diff --git a/.github/workflows/pytest.yml b/.github/workflows/pytest.yml new file mode 100644 index 00000000..ff41c997 --- /dev/null +++ b/.github/workflows/pytest.yml @@ -0,0 +1,37 @@ +name: pytest +on: [push] + +jobs: + build: + runs-on: ubuntu-latest + steps: + - uses: actions/checkout@v2 + - name: Set up Python 3.8 + uses: actions/setup-python@v1 + with: + python-version: 3.8 + - name: Install dependencies + run: | + python -m pip install --upgrade pip + pip install pipenv codecov + pip install -r requirements.txt + pipenv install --dev + - name: Build bcftools + run: | + wget https://github.com/samtools/bcftools/releases/download/1.18/bcftools-1.18.tar.bz2 + tar xf bcftools-1.18.tar.bz2 + cd bcftools-1.18 + ./configure --prefix=/usr/local/ + sudo make + sudo make install + - name: Build htslib + run: | + wget https://github.com/samtools/htslib/releases/download/1.18/htslib-1.18.tar.bz2 + tar xf htslib-1.18.tar.bz2 + cd htslib-1.18 + ./configure --prefix=/usr/local/ + sudo make + sudo make install + - name: Test with pytest + run: | + pytest -vv --cov resources/home/dnanexus/generate_workbook/ \ No newline at end of file diff --git a/Readme.md b/Readme.md index c9ba4bcc..2ab1cb8b 100644 --- a/Readme.md +++ b/Readme.md @@ -2,9 +2,11 @@ # egg_generate_workbook (DNAnexus Platform App) +![pytest](https://github.com/eastgenomics/eggd_generate_variant_workbook/actions/workflows/pytest.yml/badge.svg) + ## What does this app do? -Generate an Excel workbook from VEP annotated vcf(s) +Generates an Excel workbook from vcf(s) ## What are typical use cases for this app? @@ -21,7 +23,7 @@ This app may be executed as a standalone app. **File inputs (required)**: -- `--vcfs`: VEP annotated vcf(s) +- `--vcfs`: vcf file(s) to write to Excel workbook sheets **Other Inputs (optional):** @@ -84,7 +86,7 @@ This app may be executed as a standalone app. `--human_filter` (`string`): String to add to summary sheet with humanly readable form of the given filter string. No checking is done of this matching the actual filter(s) used. -`--acmg` (`bool`): Adds extra sheet to workbook with reporting criteria against ACMG classifications +`--acmg` (`int`): Number of extra sheet(s) to be added to workbook with reporting criteria against ACMG classifications `--panel` (`string`): Name of panel to display in summary sheet. @@ -98,6 +100,7 @@ This app may be executed as a standalone app. `--split_hgvs` (`bool`): If true, the c. and p. changes in HGVSc and HGVSp will be split out into DNA and Protein columns respectively, without the transcript +`--lock_sheet` (`bool`): If true, all sheets in the variant workbook are locked for dias pipeline except specific cells **Example**: diff --git a/dxapp.json b/dxapp.json index 37cb389d..af2317eb 100644 --- a/dxapp.json +++ b/dxapp.json @@ -3,8 +3,8 @@ "title": "eggd_generate_variant_workbook", "summary": "Create Excel workbook from VEP annotated vcf", "dxapi": "1.0.0", - "version": "2.6.0", - "whatsNew": "* v2.0.0 Rewrite of previous app to generate xlsx file from a VEP annotated VCF(s); * v2.0.1 Bug fix to correctly treat CHROM as string values; * v2.0.2 Bug fix for ACMG report template structure; * v2.0.3 Bug fixes for issues with hyperlinks, changed app name to eggd_generate_variant_workbook; * v2.1.0 Handle VCFs from GATK gCNV and Illumina TSO500, readability tweaks to variant sheets; * v2.1.1 Bug fix for typing of numeric values in hyperlinks; * v2.2.0 Added ability to pass in non VCF files (tsvs/csvs and images) to additional sheets, optional adding of links to DECIPHER with --decipher; * v2.3.0 Added conditional colouring of cells in variant sheets, new 'basic' summary sheet; * v2.4.0 Added handling for duplicate annotation in VEP fields (i.e. cosmic, CGC, etc..); * v2.5.0 Better parsing of CombinedVariantOutput files as additional files; * v2.6.0 Add variant counts as DNAnexus file details to the .xlsx workbook", + "version": "2.7.1", + "whatsNew": "* v2.0.0 Rewrite of previous app to generate xlsx file from a VEP annotated VCF(s); * v2.0.1 Bug fix to correctly treat CHROM as string values; * v2.0.2 Bug fix for ACMG report template structure; * v2.0.3 Bug fixes for issues with hyperlinks, changed app name to eggd_generate_variant_workbook; * v2.1.0 Handle VCFs from GATK gCNV and Illumina TSO500, readability tweaks to variant sheets; * v2.1.1 Bug fix for typing of numeric values in hyperlinks; * v2.2.0 Added ability to pass in non VCF files (tsvs/csvs and images) to additional sheets, optional adding of links to DECIPHER with --decipher; * v2.3.0 Added conditional colouring of cells in variant sheets, new 'basic' summary sheet; * v2.4.0 Added handling for duplicate annotation in VEP fields (i.e. cosmic, CGC, etc..); * v2.5.0 Better parsing of CombinedVariantOutput files as additional files; * v2.6.0 Add variant counts as DNAnexus file details to the .xlsx workbook; *v2.7.0 Handle pre-split and non VEP annotated VCFs, improvements to Dias reporting templates and Excel data validation; * v2.7.1 v.2.7.0 app was accidentally published on DNAnexus before testing; so a new version is created. Everything except version number is the same as v2.7.0", "authorizedUsers": [ "org-emee_1" ], @@ -210,10 +210,10 @@ { "name": "acmg", "label": "ACMG", - "class": "boolean", + "class": "int", "optional": true, - "default": false, - "help": "Determines if to add extra sheet with ACMG reporting criteria", + "default": 0, + "help": "Determines number of extra sheet(s) with ACMG reporting criteria", "group": "generate_workbook.py" }, { @@ -269,6 +269,13 @@ "class": "boolean", "optional" : true, "help": "If true, will add a column named 'rawChange' with a concatenation of columns formatted as {CHROM}:g.{POS}{REF}>{ALT}" + }, + { + "name": "lock_sheet", + "label": "lock_sheet", + "class": "boolean", + "optional" : true, + "help": "If true, all sheets in the variant workbook are locked for dias pipeline except specific cells" } ], "outputSpec": [ diff --git a/requirements.txt b/requirements.txt index 9dd46871..27388c95 100644 --- a/requirements.txt +++ b/requirements.txt @@ -6,6 +6,12 @@ filetype==1.1.0 jarowinkler==1.2.1 Levenshtein==0.20.2 numpy==1.23.2 +pytest==7.0.1 +pytest-cov==4.0.0 +pytest-html==4.1.0 +pytest-metadata==3.0.0 +pytest-mock==3.11.1 +pytest-subtests==0.11.0 python-dateutil==2.8.2 python-Levenshtein==0.12.2 pytz==2022.2.1 diff --git a/resources/home/dnanexus/generate_workbook/generate_workbook.py b/resources/home/dnanexus/generate_workbook/generate_workbook.py index 8183a5bb..ac056518 100644 --- a/resources/home/dnanexus/generate_workbook/generate_workbook.py +++ b/resources/home/dnanexus/generate_workbook/generate_workbook.py @@ -2,7 +2,6 @@ import os from pathlib import Path import re -import sys from filetype import is_image @@ -230,13 +229,18 @@ def parse_args(self) -> argparse.Namespace: ) ) parser.add_argument( - '--acmg', action='store_true', - help='add extra ACMG reporting template sheet' + '--acmg', type=int, + help='add extra ACMG reporting template sheet(s)' ) parser.add_argument( '--job_id', required=False, help='Job ID of eggd_generate_workbook to add to Dias summary' ) + parser.add_argument( + '--lock_sheet', action='store_true', + help='lock all sheets in the variant workbook in dias pipeline' + 'except specific cells' + ) parser.add_argument( '--workflow', default=('', ''), nargs=2, help='Name and ID of workflow to display in summary' @@ -424,7 +428,7 @@ def verify_images(self) -> None: if self.args.image_sizes: assert all( - [re.match('\d+:\d+', x) for x in self.args.image_sizes] + [re.match(r'\d+:\d+', x) for x in self.args.image_sizes] ), ( 'Sizes for images specified not in correct format: ' f'{self.args.image_sizes}' diff --git a/resources/home/dnanexus/generate_workbook/tests/test_columns.py b/resources/home/dnanexus/generate_workbook/tests/test_columns.py index 7ac21a2e..4c325211 100644 --- a/resources/home/dnanexus/generate_workbook/tests/test_columns.py +++ b/resources/home/dnanexus/generate_workbook/tests/test_columns.py @@ -1,10 +1,7 @@ import argparse -from cgi import test import os -from pathlib import Path import subprocess import sys -from unittest.mock import NonCallableMagicMock import pytest @@ -23,14 +20,30 @@ def read_test_vcf(vcf_file): """ # initialise vcf class with a valid argparse input to allow calling .read() vcf_handler = vcf(argparse.Namespace( - add_name=False, analysis='', clinical_indication='', exclude=None, - filter=None, include=None, keep=False, merge=False, + add_name=False, + add_classification_column=False, + analysis='', + clinical_indication='', + exclude=None, + filter=None, + include=None, + keep=False, + merge=False, add_comment_column=False, out_dir='', output='', - panel='', print_columns=False, print_header=False, reads='', - rename=None, reorder=None, sample='', sheets=['variants'], - summary=None, usable_reads='', vcfs=[vcf_file], workflow=('', '') + panel='', + print_columns=False, + print_header=False, + reads='', + rename=None, + reorder=None, + sample='', + sheets=['variants'], + summary=None, + usable_reads='', + vcfs=[vcf_file], + workflow=('', '') )) vcf_df = vcf_handler.read(vcf_file) @@ -53,7 +66,8 @@ def read_column_from_vcf(vcf, column) -> list: list : column data read from vcf """ output = subprocess.run( - f"grep -v '^#' {vcf} | cut -f{column}", shell=True, capture_output=True + f"grep -v '^#' {vcf} | cut -f{column}", + shell=True, capture_output=True, check=True ) return output.stdout.decode().splitlines() @@ -165,7 +179,7 @@ def test_parsed_correct_columns_from_info_records(self) -> None: ( f"cut -f8 {self.test_vcf} | grep -oh " f"';[A-Za-z0-9\_\-\.]*=' | sort | uniq", - ), shell=True, capture_output=True + ), shell=True, capture_output=True, check=True ) # get cleaned list that should be df column names @@ -187,7 +201,7 @@ def test_parsed_correct_gnomAD_AF_values(self): ( f"grep -v '^#' {self.test_vcf} | grep -oh " f"'gnomAD_AF=[0-9\.e\-]*;' | sort | uniq" - ), shell=True, capture_output=True + ), shell=True, capture_output=True, check=True ) # clean up values @@ -219,7 +233,7 @@ class TestFormatSample(): # get list of FORMAT fields from VCF FORMAT column output = subprocess.run(( f"grep -v '^#' {test_vcf} | cut -f9 | sort | uniq" - ), shell=True, capture_output=True) + ), shell=True, capture_output=True, check=True) format_fields = sorted(output.stdout.decode().split())[0].split(':') @@ -232,7 +246,7 @@ class TestFormatSample(): # get all SAMPLE values from vcf output = subprocess.run(( f"grep -v '^#' {test_vcf} | cut -f10" - ), shell=True, capture_output=True) + ), shell=True, capture_output=True, check=True) sample_strings_vcf = output.stdout.decode().splitlines() @@ -259,6 +273,7 @@ class TestVEPHandling(): """ # test vcf standard sample test_vcf = os.path.join(TEST_DATA_DIR, "HD753-unittest_annotated.split.vcf") + # run dataframe through splitColumns.info() to split out INFO column vcf_df = read_test_vcf(vcf_file=test_vcf) vcf_df = splitColumns().split(vcf_df) @@ -274,14 +289,16 @@ def test_parsed_correct_COSMICcMuts_values(self): ( f"grep -v '^#' {self.test_vcf} | grep -oh " f"'COSMICcMuts=[A-Z0-9&\.]*;' | sort | uniq" - ), shell=True, capture_output=True + ), shell=True, capture_output=True, check=True ) + # clean up values stdout = output.stdout.decode().splitlines() stdout = sorted(list([ x.replace(';', '').replace('COSMICcMuts=', '') for x in stdout ])) stdout = [' & '.join(set(x.split("&"))) for x in stdout] + # get COSMICcMuts values from dataframe df_values = sorted(list(self.vcf_df['CSQ_COSMICcMuts'].unique().tolist())) assert all([str(x) == str(y) for x, y in zip(stdout, df_values)]), ( @@ -289,30 +306,31 @@ def test_parsed_correct_COSMICcMuts_values(self): ) def test_parsed_correct_COSMICncMuts_values(self): - """ - Test values read into dataframe for COSMICncMuts match the values - above from the VCF - """ - # read COSMICncMuts values from vcf - output = subprocess.run( - ( - f"grep -v '^#' {self.test_vcf} | grep -oh " - f"'COSMICncMuts=[A-Z0-9&\.]*;' | sort | uniq" - ), shell=True, capture_output=True - ) - - # clean up values - stdout = output.stdout.decode().splitlines() - stdout = sorted(list([ - x.replace(';', '').replace('COSMICncMuts=', '') for x in stdout - ])) - stdout = [' & '.join(set(x.split("&"))) for x in stdout] - # get COSMICncMuts values from dataframe - df_values = sorted(list(self.vcf_df['CSQ_COSMICncMuts'].unique().tolist())) - - assert all([str(x) == str(y) for x, y in zip(stdout, df_values)]), ( - "COSMICncMuts values in VCF do not match those in dataframe" - ) + """ + Test values read into dataframe for COSMICncMuts match the values + above from the VCF + """ + # read COSMICncMuts values from vcf + output = subprocess.run( + ( + f"grep -v '^#' {self.test_vcf} | grep -oh " + f"'COSMICncMuts=[A-Z0-9&\.]*;' | sort | uniq" + ), shell=True, capture_output=True, check=True + ) + + # clean up values + stdout = output.stdout.decode().splitlines() + stdout = sorted(list([ + x.replace(';', '').replace('COSMICncMuts=', '') for x in stdout + ])) + stdout = [' & '.join(set(x.split("&"))) for x in stdout] + + # get COSMICncMuts values from dataframe + df_values = sorted(list(self.vcf_df['CSQ_COSMICncMuts'].unique().tolist())) + + assert all([str(x) == str(y) for x, y in zip(stdout, df_values)]), ( + "COSMICncMuts values in VCF do not match those in dataframe" + ) if __name__ == "__main__": diff --git a/resources/home/dnanexus/generate_workbook/tests/test_data/HD753-unittest_annotated.split.vcf b/resources/home/dnanexus/generate_workbook/tests/test_data/HD753-unittest_annotated.split.vcf new file mode 100644 index 00000000..cfb71685 --- /dev/null +++ b/resources/home/dnanexus/generate_workbook/tests/test_data/HD753-unittest_annotated.split.vcf @@ -0,0 +1,5922 @@ +##fileformat=VCFv4.1 +##FILTER= +##fileDate=20230210 +##source=Pisces 5.2.11.63 +##Pisces_cmdline=""-Bam /opt/illumina/analysis-folder/Logs_Intermediates/StitchedRealigned/HD753-218450-1-DNA-egg6/HD753-218450-1-DNA-egg6.bam -maxNumThreads 3 -outFolder /opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller -MinBQ 65 -G /opt/illumina/resources/genomes/hg19_hardPAR -I /opt/illumina/resources/TST500C_manifest_ext.interval_list -MinVF 0.0001 -SSFilter False -MinMQ 30 -MaxVQ 100 -MinDepthFilter 500 -MinVQ 0 -VQFilter 20 -gVCF True -ReportNoCalls True -CallMNVs True -MaxMNVLength 3 -MaxGapBetweenMNV 1 -Collapse True -ReportRcCounts True -ReportTsCounts True -ThreadByChr True -usestitchedxd true -outputsbfiles false"" +##VariantPhaser=Scylla 5.2.11.63 +##Scylla_cmdline="--bam /opt/illumina/analysis-folder/Logs_Intermediates/StitchedRealigned/HD753-218450-1-DNA-egg6/HD753-218450-1-DNA-egg6.bam --vcf /opt/illumina/analysis-folder/Logs_Intermediates/PhasedVariants/HD753-218450-1-DNA-egg6/HD753-218450-1-DNA-egg6_SmallVariants.filtered.genome.vcf --outFolder /opt/illumina/analysis-folder/Logs_Intermediates/PhasedVariants/HD753-218450-1-DNA-egg6 -g /opt/illumina/resources/genomes/hg19_hardPAR -PassingVariantsOnly false --minvq 0 --vqfilter 0 --vffilter 0 --gqfilter 0 --mindpfilter 100" +##VcfPostProcessingFilter=Psara 5.2.11.63 +##Psara_cmdline="--vcf /opt/illumina/analysis-folder/Logs_Intermediates/SmallVariantFilter/HD753-218450-1-DNA-egg6/HD753-218450-1-DNA-egg6_SmallVariants.genome.vcf --outFolder /opt/illumina/analysis-folder/Logs_Intermediates/PhasedVariants/HD753-218450-1-DNA-egg6 -inclusionmodel=start -roi /opt/illumina/resources/scylla/scylla.interval_list" +##Psara_cmdline="-vcf /opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/HD753-218450-1-DNA-egg6.genome.vcf -outFolder /opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller -roi /opt/illumina/resources/TST500C_manifest.interval_list -inclusionmodel expand" +##reference=/opt/illumina/resources/genomes/hg19_hardPAR +##ALT=,Description="There is an overlapping other allele that has been called in a separate VCF record"> +##filteringProgram=Pepe 2.0.0.23 +##Pepe_cmdline="-vcfFiles /opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5660-218448-1-DNA-egg6/MB5660-218448-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5654-218447-1-DNA-egg6/MB5654-218447-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/HD753-218450-1-DNA-egg6/HD753-218450-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5638R1-218444-1-DNA-egg6/MB5638R1-218444-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5629R1-218442-1-DNA-egg6/MB5629R1-218442-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5653-218446-1-DNA-egg6/MB5653-218446-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5644-218445-1-DNA-egg6/MB5644-218445-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5629R2-218451-1-DNA-egg6/MB5629R2-218451-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5633-218443-1-DNA-egg6/MB5633-218443-1-DNA-egg6.filtered.genome.vcf,/opt/illumina/analysis-folder/Logs_Intermediates/VariantCaller/MB5679-218449-1-DNA-egg6/MB5679-218449-1-DNA-egg6.filtered.genome.vcf -maxThreads 32 -outputFolder /opt/illumina/analysis-folder/Logs_Intermediates/SmallVariantFilter -genomeDirectory /opt/illumina/resources/genomes/hg19_hardPAR -blacklistBed /opt/illumina/resources/pepe2/pepe_blacklist.bed -baselineFile /opt/illumina/resources/pepe2/pepe_baseline.txt -mode likelihoodratio -depthThreshold 100 -baselineMethod binomial -priorFiles /opt/illumina/resources/pepe2/cosmic_pepe2_prior.vcf -likelihoodRatioNonPriorThreshold 60 -qscoreNonPriorThreshold 60 -qscorePriorThreshold 20 -likelihoodRatioPriorThreshold 20 -backgroundNoiseFrequencyThreshold 0.05 -LoD 0.05 -outputErrorRateTables true" +##INFO= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##contig= +##VcfMatching=Yente 2.0.0.7 +##bcftools_viewVersion=1.15+htslib-1.15 +##bcftools_viewCommand=view -m2 -o HD753-218450-1-DNA-egg6.vcf HD753-218450-1-DNA-egg6_MergedSmallVariants.genome.vcf; Date=Sun Feb 12 13:54:01 2023 +##bcftools_annotateVersion=1.15+htslib-1.15 +##bcftools_annotateCommand=annotate --rename-chrs chr_prefix_map.txt HD753-218450-1-DNA-egg6.vcf; Date=Sun Feb 12 13:54:04 2023 +##bcftools_normVersion=1.15+htslib-1.15 +##bcftools_normCommand=norm -m -any -f genome.fa -o HD753-218450-1-DNA-egg6_norm.vcf HD753-218450-1-DNA-egg6.vcf; Date=Sun Feb 12 13:54:04 2023 +##bcftools_viewCommand=view -f PASS -Oz -o HD753-218450-1-DNA-egg6_pass.vcf.gz HD753-218450-1-DNA-egg6_norm.vcf; Date=Sun Feb 12 13:54:05 2023 +##bcftools_filterVersion=1.15+htslib-1.15 +##bcftools_filterCommand=filter -i FILTER!="PASS" HD753-218450-1-DNA-egg6_norm.vcf; Date=Sun Feb 12 13:54:05 2023 +##FILTER= +##bcftools_filterCommand=filter -m + -s rescued --mask-file 220721_TSO500_hotspot_rescue.vcf -; Date=Sun Feb 12 13:54:05 2023 +##bcftools_filterCommand=filter -i FILTER~"rescued" -Oz -o HD753-218450-1-DNA-egg6.rescued.vcf.gz -; Date=Sun Feb 12 13:54:05 2023 +##bcftools_concatVersion=1.15+htslib-1.15 +##bcftools_concatCommand=concat -a -Oz -o HD753-218450-1-DNA-egg6_withLowSupportHotspots.vcf.gz HD753-218450-1-DNA-egg6_pass.vcf.gz HD753-218450-1-DNA-egg6.rescued.vcf.gz; Date=Sun Feb 12 13:54:05 2023 +##bcftools_normCommand=norm -f genome.fa -m -any --keep-sum AD -o HD753-218450-1-DNA-egg6_withLowSupportHotspots_post_filtering.vcf HD753-218450-1-DNA-egg6_withLowSupportHotspots_filtered.vcf; Date=Thu Apr 20 13:09:20 2023 +##VEP="v105" time="2023-04-20 13:11:44" cache="/opt/vep/.vep/homo_sapiens_refseq/105_GRCh37" ensembl=105.f357e33 ensembl-io=105.2a0a40c ensembl-variation=105.ac8178e ensembl-funcgen=105.660df8f 1000genomes="phase3" COSMIC="92" ClinVar="202012" HGMD-PUBLIC="20204" assembly="GRCh37.p13" dbSNP="154" gencode="GENCODE 19" genebuild="2011-04" gnomAD="r2.1" polyphen="2.2.2" refseq="2020-10-26 17:03:42 - GCF_000001405.25_GRCh37.p13_genomic.gff" regbuild="1.0" sift="sift5.2.2" +##SpliceAI_cutoff=Flag if delta score pass the cutoff (PASS) or if it does not (FAIL) +##SpliceAI_pred_DP_AG=SpliceAI predicted effect on splicing. Delta position for acceptor gain +##SpliceAI_pred_DP_AL=SpliceAI predicted effect on splicing. Delta position for acceptor loss +##SpliceAI_pred_DP_DG=SpliceAI predicted effect on splicing. Delta position for donor gain +##SpliceAI_pred_DP_DL=SpliceAI predicted effect on splicing. Delta position for donor loss +##SpliceAI_pred_DS_AG=SpliceAI predicted effect on splicing. Delta score for acceptor gain +##SpliceAI_pred_DS_AL=SpliceAI predicted effect on splicing. Delta score for acceptor loss +##SpliceAI_pred_DS_DG=SpliceAI predicted effect on splicing. Delta score for donor gain +##SpliceAI_pred_DS_DL=SpliceAI predicted effect on splicing. Delta score for donor loss +##SpliceAI_pred_SYMBOL=SpliceAI gene symbol +##REVEL=Rare Exome Variant Ensemble Learner +##Mastermind_MMID3=Mastermind MMID3 variant identifier(s), as gene:key. Link to the Genomenon Mastermind Genomic Search Engine. +##Mastermind_counts=Mastermind number of citations in the medical literature. Output includes three unique counts: MMCNT1|MMCNT2|MMCNT3. MMCNT1 - Count of Mastermind articles with cDNA matches for this specific variant; MMCNT2 - Count of Mastermind articles with variants either explicitly matching at the cDNA level or given only at protein level; MMCNT3 - Count of Mastermind articles including other DNA-level variants resulting in the same amino acid change. +##CADD_PHRED=PHRED-like scaled CADD score +##CADD_RAW=Raw CADD score +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##bcftools_split-vepVersion=1.16-90-g2191405+htslib-1.16-57-gcb8f462 +##bcftools_split-vepCommand=split-vep --columns - -a CSQ -Ou -p CSQ_ -d /home/rswilson1/Documents/old_repos/eggd_generate_variant_workbook/resources/home/dnanexus/generate_workbook/tests/test_data/HD753-unittest_annotated.vcf; Date=Thu Apr 20 15:34:56 2023 +##bcftools_annotateVersion=1.16-90-g2191405+htslib-1.16-57-gcb8f462 +##bcftools_annotateCommand=annotate -x INFO/CSQ -o HD753-unittest_annotated.split.vcf; Date=Thu Apr 20 15:34:56 2023 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HD753-218450-1-DNA-egg6.bam +1 2488153 . A G 100 PASS DP=110;CSQ_Allele=G;CSQ_SYMBOL=TNFRSF14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001297605.2;CSQ_HGVSc=NM_001297605.2:c.50A>G;CSQ_HGVSp=NP_001284534.1:p.Lys17Arg;CSQ_HGVSg=1:g.2488153A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135349;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=16778;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.544599;CSQ_gnomADe_AC=118689;CSQ_gnomADe_AN=231414;CSQ_gnomADe_AF=0.512886;CSQ_gnomADe_Hom=31103;CSQ_COSMICcMuts=COSV63186428&COSV63186428;CSQ_COSMICncMuts=COSV63186428&COSV63186428&COSV63186428&COSV63186428&COSV63186428&COSV63186428&COSV63186428;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.155;CSQ_Mastermind_MMID3=TNFRSF14:K17R;CSQ_CADD_PHRED=10.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,53:110:0.48182:65:-100:0.1603:8,23,1,11,1,9,14,46,6,25,3,16:100:100 +1 2488153 . A G 100 PASS DP=110;CSQ_Allele=G;CSQ_SYMBOL=TNFRSF14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_003820.4;CSQ_HGVSc=NM_003820.4:c.50A>G;CSQ_HGVSp=NP_003811.2:p.Lys17Arg;CSQ_HGVSg=1:g.2488153A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135349;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=16778;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.544599;CSQ_gnomADe_AC=118689;CSQ_gnomADe_AN=231414;CSQ_gnomADe_AF=0.512886;CSQ_gnomADe_Hom=31103;CSQ_COSMICcMuts=COSV63186428&COSV63186428;CSQ_COSMICncMuts=COSV63186428&COSV63186428&COSV63186428&COSV63186428&COSV63186428&COSV63186428&COSV63186428;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.155;CSQ_Mastermind_MMID3=TNFRSF14:K17R;CSQ_CADD_PHRED=10.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,53:110:0.48182:65:-100:0.1603:8,23,1,11,1,9,14,46,6,25,3,16:100:100 +1 2489805 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=TNFRSF14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/7;CSQ_INTRON=.;CSQ_Feature=NM_001297605.2;CSQ_HGVSc=NM_001297605.2:c.202G>A;CSQ_HGVSp=NP_001284534.1:p.Gly68Arg;CSQ_HGVSg=1:g.2489805G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63185913&COSV63185913;CSQ_COSMICncMuts=COSV63185913&COSV63185913&COSV63185913&COSV63185913&COSV63185913&COSV63185913&COSV63185913&COSV63185913;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.07;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=0.179;CSQ_Mastermind_MMID3=TNFRSF14:G68R;CSQ_CADD_PHRED=15.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,28:130:0.21538:65:-100:0.1558:1,16,2,3,2,4,14,62,10,16,8,20:100:100 +1 2489805 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=TNFRSF14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_003820.4;CSQ_HGVSc=NM_003820.4:c.202G>A;CSQ_HGVSp=NP_003811.2:p.Gly68Arg;CSQ_HGVSg=1:g.2489805G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63185913&COSV63185913;CSQ_COSMICncMuts=COSV63185913&COSV63185913&COSV63185913&COSV63185913&COSV63185913&COSV63185913&COSV63185913&COSV63185913;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.07;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=0.179;CSQ_Mastermind_MMID3=TNFRSF14:G68R;CSQ_CADD_PHRED=15.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,28:130:0.21538:65:-100:0.1558:1,16,2,3,2,4,14,62,10,16,8,20:100:100 +1 2491306 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=TNFRSF14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/7;CSQ_INTRON=.;CSQ_Feature=NM_001297605.2;CSQ_HGVSc=NM_001297605.2:c.349G>A;CSQ_HGVSp=NP_001284534.1:p.Ala117Thr;CSQ_HGVSg=1:g.2491306G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135353;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=469;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0151643;CSQ_gnomADe_AC=2415;CSQ_gnomADe_AN=228474;CSQ_gnomADe_AF=0.0105701;CSQ_gnomADe_Hom=31;CSQ_COSMICcMuts=COSV104672684&COSV104672684;CSQ_COSMICncMuts=COSV104672684&COSV104672684&COSV104672684&COSV104672684&COSV104672684&COSV104672684&COSV104672684;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.204;CSQ_Mastermind_MMID3=TNFRSF14:A117T;CSQ_CADD_PHRED=0.305 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,15:140:0.10714:65:-100:0.1908:2,6,1,1,3,2,24,47,15,22,12,20:100:100 +1 2491306 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=TNFRSF14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_003820.4;CSQ_HGVSc=NM_003820.4:c.349G>A;CSQ_HGVSp=NP_003811.2:p.Ala117Thr;CSQ_HGVSg=1:g.2491306G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135353;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=469;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0151643;CSQ_gnomADe_AC=2415;CSQ_gnomADe_AN=228474;CSQ_gnomADe_AF=0.0105701;CSQ_gnomADe_Hom=31;CSQ_COSMICcMuts=COSV104672684&COSV104672684;CSQ_COSMICncMuts=COSV104672684&COSV104672684&COSV104672684&COSV104672684&COSV104672684&COSV104672684&COSV104672684;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.204;CSQ_Mastermind_MMID3=TNFRSF14:A117T;CSQ_CADD_PHRED=0.305 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,15:140:0.10714:65:-100:0.1908:2,6,1,1,3,2,24,47,15,22,12,20:100:100 +1 8085030 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=ERRFI1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/3;CSQ_Feature=NM_018948.4;CSQ_HGVSc=NM_018948.4:c.-74+1188G>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.8085030C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=370;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0119517;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0.0853:3,1,1,3,3,0,21,33,18,17,13,16:100:100 +1 9775947 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=PIK3CD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/24;CSQ_INTRON=.;CSQ_Feature=NM_005026.5;CSQ_HGVSc=NM_005026.5:c.411C>T;CSQ_HGVSp=NP_005017.3:p.Asn137%3D;CSQ_HGVSg=1:g.9775947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1106158;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_14;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63127340&COSV63127340&COSV63127340;CSQ_COSMICncMuts=COSV63127340&COSV63127340;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.231 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,12:118:0.10169:65:-100:0.1918:1,5,2,3,1,0,14,48,10,22,12,12:100:100 +1 9782031 . AG A 100 PASS DP=104;CSQ_Allele=-;CSQ_SYMBOL=PIK3CD;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005026.5;CSQ_HGVSc=NM_005026.5:c.2059del;CSQ_HGVSp=NP_005017.3:p.Glu687LysfsTer3;CSQ_HGVSg=1:g.9782036del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63127904&COSV63127904&COSV63127904&COSV63127904;CSQ_COSMICncMuts=COSV63127904;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=1.00;CSQ_SpliceAI_pred_DS_AL=1.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,7:104:0.06731:65:-100:0:2,3,1,1,0,0,11,35,5,23,11,19:84.707:100 +1 9784423 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=PIK3CD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/24;CSQ_INTRON=.;CSQ_Feature=NM_005026.5;CSQ_HGVSc=NM_005026.5:c.2808C>T;CSQ_HGVSp=NP_005017.3:p.Tyr936%3D;CSQ_HGVSg=1:g.9784423C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=811566;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Combined_immunodeficiency_with_faciooculoskeletal_anomalies&Immunodeficiency_14&Immunodeficiency_14b&_autosomal_recessive¬_provided;CSQ_gnomADg_AC=6563;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.212326;CSQ_gnomADe_AC=40824;CSQ_gnomADe_AN=246254;CSQ_gnomADe_AF=0.16578;CSQ_gnomADe_Hom=5690;CSQ_COSMICcMuts=COSV63127425&COSV63127425&COSV63127425;CSQ_COSMICncMuts=COSV63127425&COSV63127425&COSV63127425&COSV63127425&COSV63127425&COSV63127425;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CD:Y907Y&PIK3CD:Y935Y&PIK3CD:Y936Y;CSQ_CADD_PHRED=8.212 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,21:136:0.15441:65:-100:0.1807:3,11,1,3,0,3,23,55,8,19,8,23:100:100 +1 11181327 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=MTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=49/58;CSQ_INTRON=.;CSQ_Feature=NM_004958.4;CSQ_HGVSc=NM_004958.4:c.6909G>A;CSQ_HGVSp=NP_004949.1:p.Leu2303%3D;CSQ_HGVSg=1:g.11181327C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=516652;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=8642;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.279694;CSQ_gnomADe_AC=52272;CSQ_gnomADe_AN=245632;CSQ_gnomADe_AF=0.212806;CSQ_gnomADe_Hom=6452;CSQ_COSMICcMuts=COSV63870864&COSV63870864;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MTOR:L1887L&MTOR:L2303L;CSQ_CADD_PHRED=11.34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,29:119:0.2437:65:-100:0.1377:4,7,1,6,4,7,23,35,12,23,9,17:100:100 +1 11184586 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=MTOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=47/58;CSQ_INTRON=.;CSQ_Feature=NM_004958.4;CSQ_HGVSc=NM_004958.4:c.6631A>G;CSQ_HGVSp=NP_004949.1:p.Asn2211Asp;CSQ_HGVSg=1:g.11184586T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.331;CSQ_Mastermind_MMID3=MTOR:N2211D;CSQ_CADD_PHRED=23.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,7:128:0.05469:65:-100:0.1523:2,2,1,2,0,0,29,37,14,25,8,15:81.274:100 +1 11190646 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=MTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=39/58;CSQ_INTRON=.;CSQ_Feature=NM_004958.4;CSQ_HGVSc=NM_004958.4:c.5553C>T;CSQ_HGVSp=NP_004949.1:p.Ser1851%3D;CSQ_HGVSg=1:g.11190646G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380311;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=8701;CSQ_gnomADg_AN=30818;CSQ_gnomADg_AF=0.282335;CSQ_gnomADe_AC=52356;CSQ_gnomADe_AN=243444;CSQ_gnomADe_AF=0.215064;CSQ_gnomADe_Hom=6513;CSQ_COSMICcMuts=COSV63871083&COSV63871083;CSQ_COSMICncMuts=COSV63871083;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MTOR:S1435S&MTOR:S1851S;CSQ_CADD_PHRED=9.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,54:163:0.33129:65:-100:0.1554:11,24,3,4,5,7,26,65,11,19,19,23:100:100 +1 11199448 . C T 100 PASS DP=115;CSQ_Allele=T;CSQ_SYMBOL=MTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=36/58;CSQ_INTRON=.;CSQ_Feature=NM_004958.4;CSQ_HGVSc=NM_004958.4:c.5043G>A;CSQ_HGVSp=NP_004949.1:p.Pro1681%3D;CSQ_HGVSg=1:g.11199448C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=414909;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=342;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0110537;CSQ_gnomADe_AC=678;CSQ_gnomADe_AN=245942;CSQ_gnomADe_AF=0.00275675;CSQ_gnomADe_Hom=10;CSQ_COSMICcMuts=COSV63879011;CSQ_COSMICncMuts=COSV63879011;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MTOR:P1681P;CSQ_CADD_PHRED=2.090 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,8:115:0.06957:65:-100:0.1154:0,2,1,2,0,3,11,46,7,24,5,22:88.992:100 +1 11205058 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=MTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=33/58;CSQ_INTRON=.;CSQ_Feature=NM_004958.4;CSQ_HGVSc=NM_004958.4:c.4731G>A;CSQ_HGVSp=NP_004949.1:p.Ala1577%3D;CSQ_HGVSg=1:g.11205058C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=516654;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=17577;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.568872;CSQ_gnomADe_AC=169036;CSQ_gnomADe_AN=246124;CSQ_gnomADe_AF=0.686792;CSQ_gnomADe_Hom=60870;CSQ_COSMICcMuts=COSV63875443;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MTOR:A1161A&MTOR:A1577A;CSQ_CADD_PHRED=10.70 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,66:122:0.54098:65:-100:0.1348:7,20,6,11,7,15,14,46,11,18,11,22:100:100 +1 11288758 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=MTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/58;CSQ_INTRON=.;CSQ_Feature=NM_004958.4;CSQ_HGVSc=NM_004958.4:c.2997C>T;CSQ_HGVSp=NP_004949.1:p.Asn999%3D;CSQ_HGVSg=1:g.11288758G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1170840;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=19920;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.644911;CSQ_gnomADe_AC=184932;CSQ_gnomADe_AN=246022;CSQ_gnomADe_AF=0.751689;CSQ_gnomADe_Hom=71307;CSQ_COSMICcMuts=COSV63873449;CSQ_COSMICncMuts=COSV63873449&COSV63873449;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MTOR:N583N&MTOR:N999N;CSQ_CADD_PHRED=9.281 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,101:154:0.65584:65:-100:0.1895:12,37,10,16,6,20,19,62,12,25,10,26:100:100 +1 11301714 . A G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=MTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/58;CSQ_INTRON=.;CSQ_Feature=NM_004958.4;CSQ_HGVSc=NM_004958.4:c.1437T>C;CSQ_HGVSp=NP_004949.1:p.Asp479%3D;CSQ_HGVSg=1:g.11301714A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=516653;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=18935;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.612942;CSQ_gnomADe_AC=178432;CSQ_gnomADe_AN=245864;CSQ_gnomADe_AF=0.725735;CSQ_gnomADe_Hom=66792;CSQ_COSMICcMuts=COSV63873456;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MTOR:D479D&MTOR:D63D;CSQ_CADD_PHRED=9.624 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,93:123:0.7561:65:-100:0.1575:13,36,4,15,6,19,16,46,6,25,6,24:100:100 +1 16255108 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=SPEN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/15;CSQ_INTRON=.;CSQ_Feature=NM_015001.3;CSQ_HGVSc=NM_015001.3:c.2373A>G;CSQ_HGVSp=NP_055816.2:p.Thr791%3D;CSQ_HGVSg=1:g.16255108A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.475 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,14:125:0.112:65:-100:0.1135:2,4,3,2,1,2,17,41,16,23,9,19:100:100 +1 16255644 . C T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=SPEN;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/15;CSQ_INTRON=.;CSQ_Feature=NM_015001.3;CSQ_HGVSc=NM_015001.3:c.2909C>T;CSQ_HGVSp=NP_055816.2:p.Ala970Val;CSQ_HGVSg=1:g.16255644C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1233038;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3167;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.102326;CSQ_gnomADe_AC=34711;CSQ_gnomADe_AN=246142;CSQ_gnomADe_AF=0.14102;CSQ_gnomADe_Hom=3528;CSQ_COSMICcMuts=COSV65357982;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.099;CSQ_Mastermind_MMID3=SPEN:A970V;CSQ_CADD_PHRED=9.026 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,33:138:0.23913:65:-100:0.121:6,9,3,5,5,5,28,37,12,22,14,25:100:100 +1 16256007 . T C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=SPEN;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/15;CSQ_INTRON=.;CSQ_Feature=NM_015001.3;CSQ_HGVSc=NM_015001.3:c.3272T>C;CSQ_HGVSp=NP_055816.2:p.Leu1091Pro;CSQ_HGVSg=1:g.16256007T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1333155;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=RADIO-TARTAGLIA_SYNDROME;CSQ_gnomADg_AC=20756;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.671324;CSQ_gnomADe_AC=150850;CSQ_gnomADe_AN=244920;CSQ_gnomADe_AF=0.615915;CSQ_gnomADe_Hom=48448;CSQ_COSMICcMuts=COSV65359297;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.060;CSQ_Mastermind_MMID3=SPEN:L1091P;CSQ_CADD_PHRED=11.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,84:124:0.67742:65:-100:0.1678:7,31,7,15,4,20,10,50,11,22,5,26:100:100 +1 16259813 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=SPEN;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/15;CSQ_INTRON=.;CSQ_Feature=NM_015001.3;CSQ_HGVSc=NM_015001.3:c.7078A>G;CSQ_HGVSp=NP_055816.2:p.Asn2360Asp;CSQ_HGVSg=1:g.16259813A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1268492;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=RADIO-TARTAGLIA_SYNDROME¬_provided;CSQ_gnomADg_AC=20707;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.670607;CSQ_gnomADe_AC=151115;CSQ_gnomADe_AN=245298;CSQ_gnomADe_AF=0.616047;CSQ_gnomADe_Hom=48535;CSQ_COSMICcMuts=COSV65359302;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.099;CSQ_Mastermind_MMID3=SPEN:N2360D;CSQ_CADD_PHRED=6.850 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,93:138:0.67391:65:-100:0.1687:18,28,7,25,4,11,27,48,11,30,6,16:100:100 +1 16260916 . C T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=SPEN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/15;CSQ_INTRON=.;CSQ_Feature=NM_015001.3;CSQ_HGVSc=NM_015001.3:c.8181C>T;CSQ_HGVSp=NP_055816.2:p.Ala2727%3D;CSQ_HGVSg=1:g.16260916C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1342068;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3202;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.103404;CSQ_gnomADe_AC=34760;CSQ_gnomADe_AN=245780;CSQ_gnomADe_AF=0.141427;CSQ_gnomADe_Hom=3539;CSQ_COSMICcMuts=COSV65357526;CSQ_COSMICncMuts=COSV65357526;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPEN:A2727A;CSQ_CADD_PHRED=0.031 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,42:145:0.28966:65:-100:0.1369:4,16,3,6,4,9,19,49,11,27,14,25:100:100 +1 16262404 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=SPEN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/15;CSQ_INTRON=.;CSQ_Feature=NM_015001.3;CSQ_HGVSc=NM_015001.3:c.9669C>T;CSQ_HGVSp=NP_055816.2:p.Ser3223%3D;CSQ_HGVSg=1:g.16262404C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3156;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.102487;CSQ_gnomADe_AC=33735;CSQ_gnomADe_AN=240958;CSQ_gnomADe_AF=0.140004;CSQ_gnomADe_Hom=3440;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.08;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPEN:S3223S;CSQ_CADD_PHRED=10.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,22:116:0.18966:65:-100:0.2418:5,7,2,1,1,6,25,41,7,18,8,17:100:100 +1 16265904 . T A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=SPEN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_015001.3;CSQ_HGVSc=NM_015001.3:c.10977T>A;CSQ_HGVSp=NP_055816.2:p.Ile3659%3D;CSQ_HGVSg=1:g.16265904T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2372;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.076734;CSQ_gnomADe_AC=14860;CSQ_gnomADe_AN=233856;CSQ_gnomADe_AF=0.0635434;CSQ_gnomADe_Hom=603;CSQ_COSMICcMuts=COSV65269487;CSQ_COSMICncMuts=COSV65269487&COSV65269487&COSV65269487&COSV65269487&COSV65269487&COSV65269487&COSV65269487&COSV65269487&COSV65269487&COSV65269487&COSV65269487&COSV65269487;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.28;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPEN:I3659I;CSQ_CADD_PHRED=11.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,25:137:0.18248:65:-100:0.1491:1,10,1,7,1,5,17,50,14,29,6,21:100:100 +1 17380507 . G C 100 PASS DP=33;CSQ_Allele=C;CSQ_SYMBOL=SDHB;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_003000.3;CSQ_HGVSc=NM_003000.3:c.8C>G;CSQ_HGVSp=NP_002991.2:p.Ala3Gly;CSQ_HGVSg=1:g.17380507G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12791;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Gastrointestinal_stromal_tumor&Paragangliomas_4&Carney-Stratakis_syndrome&Hereditary_cancer-predisposing_syndrome&Cowden_syndrome&Hereditary_pheochromocytoma-paraganglioma&Mitochondrial_complex_2_deficiency&_nuclear_type_4¬_specified¬_provided;CSQ_gnomADg_AC=385;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0124346;CSQ_gnomADe_AC=714;CSQ_gnomADe_AN=236900;CSQ_gnomADe_AF=0.00301393;CSQ_gnomADe_Hom=18;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.564;CSQ_Mastermind_MMID3=SDHB:A3G;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,8:33:0.24242:65:-100:0.2667:2,2,1,1,0,2,4,3,2,3,14,7:100:100 +1 18957987 . TA T 100 PASS DP=136;CSQ_Allele=-;CSQ_SYMBOL=PAX7;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.-103del;CSQ_HGVSp=.;CSQ_HGVSg=1:g.18957995del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64753421;CSQ_COSMICncMuts=COSV64753421&COSV64753421;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,28:136:0.20588:65:-100:0:3,2,6,6,5,6,21,34,16,28,12,25:100:100 +1 18957987 . TA T 100 PASS DP=136;CSQ_Allele=-;CSQ_SYMBOL=PAX7;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_002584.3;CSQ_HGVSc=NM_002584.3:c.-103del;CSQ_HGVSp=.;CSQ_HGVSg=1:g.18957995del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64753421;CSQ_COSMICncMuts=COSV64753421&COSV64753421;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,28:136:0.20588:65:-100:0:3,2,6,6,5,6,21,34,16,28,12,25:100:100 +1 19018405 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PAX7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.744G>A;CSQ_HGVSp=NP_001128726.1:p.Glu248%3D;CSQ_HGVSg=1:g.19018405G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1843;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.0594977;CSQ_gnomADe_AC=21227;CSQ_gnomADe_AN=244872;CSQ_gnomADe_AF=0.0866861;CSQ_gnomADe_Hom=1265;CSQ_COSMICcMuts=COSV64749067&COSV64749067&COSV64749067;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:E246E&PAX7:E248E;CSQ_CADD_PHRED=10.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,17:128:0.13281:65:-100:0.1351:2,7,1,4,0,3,15,49,9,25,13,17:100:100 +1 19018405 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PAX7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/8;CSQ_INTRON=.;CSQ_Feature=NM_002584.3;CSQ_HGVSc=NM_002584.3:c.744G>A;CSQ_HGVSp=NP_002575.1:p.Glu248%3D;CSQ_HGVSg=1:g.19018405G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1843;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.0594977;CSQ_gnomADe_AC=21227;CSQ_gnomADe_AN=244872;CSQ_gnomADe_AF=0.0866861;CSQ_gnomADe_Hom=1265;CSQ_COSMICcMuts=COSV64749067&COSV64749067&COSV64749067;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:E246E&PAX7:E248E;CSQ_CADD_PHRED=10.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,17:128:0.13281:65:-100:0.1351:2,7,1,4,0,3,15,49,9,25,13,17:100:100 +1 19018432 . A C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PAX7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.771A>C;CSQ_HGVSp=NP_001128726.1:p.Thr257%3D;CSQ_HGVSg=1:g.19018432A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2197;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0709396;CSQ_gnomADe_AC=22764;CSQ_gnomADe_AN=243414;CSQ_gnomADe_AF=0.0935197;CSQ_gnomADe_Hom=1400;CSQ_COSMICcMuts=COSV64749071&COSV64749071&COSV64749071;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:T255T&PAX7:T257T;CSQ_CADD_PHRED=4.487 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,20:128:0.15625:65:-100:0.1742:5,5,1,5,1,3,18,44,14,24,13,15:100:100 +1 19018432 . A C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PAX7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/8;CSQ_INTRON=.;CSQ_Feature=NM_002584.3;CSQ_HGVSc=NM_002584.3:c.771A>C;CSQ_HGVSp=NP_002575.1:p.Thr257%3D;CSQ_HGVSg=1:g.19018432A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2197;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0709396;CSQ_gnomADe_AC=22764;CSQ_gnomADe_AN=243414;CSQ_gnomADe_AF=0.0935197;CSQ_gnomADe_Hom=1400;CSQ_COSMICcMuts=COSV64749071&COSV64749071&COSV64749071;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:T255T&PAX7:T257T;CSQ_CADD_PHRED=4.487 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,20:128:0.15625:65:-100:0.1742:5,5,1,5,1,3,18,44,14,24,13,15:100:100 +1 19027239 . A G 100 PASS DP=83;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.879A>G;CSQ_HGVSp=NP_001128726.1:p.Pro293%3D;CSQ_HGVSg=1:g.19027239A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1326989;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Myopathy&_congenital&_progressive&_with_scoliosis;CSQ_gnomADg_AC=12078;CSQ_gnomADg_AN=30784;CSQ_gnomADg_AF=0.392347;CSQ_gnomADe_AC=82277;CSQ_gnomADe_AN=228050;CSQ_gnomADe_AF=0.360785;CSQ_gnomADe_Hom=16501;CSQ_COSMICcMuts=COSV64750413&COSV64750413&COSV64750413;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:P291P&PAX7:P293P;CSQ_CADD_PHRED=0.449 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,33:83:0.39759:65:-100:0.2315:3,9,4,8,3,6,12,25,8,14,6,18:100:100 +1 19027239 . A G 100 PASS DP=83;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_002584.3;CSQ_HGVSc=NM_002584.3:c.879A>G;CSQ_HGVSp=NP_002575.1:p.Pro293%3D;CSQ_HGVSg=1:g.19027239A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1326989;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Myopathy&_congenital&_progressive&_with_scoliosis;CSQ_gnomADg_AC=12078;CSQ_gnomADg_AN=30784;CSQ_gnomADg_AF=0.392347;CSQ_gnomADe_AC=82277;CSQ_gnomADe_AN=228050;CSQ_gnomADe_AF=0.360785;CSQ_gnomADe_Hom=16501;CSQ_COSMICcMuts=COSV64750413&COSV64750413&COSV64750413;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:P291P&PAX7:P293P;CSQ_CADD_PHRED=0.449 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,33:83:0.39759:65:-100:0.2315:3,9,4,8,3,6,12,25,8,14,6,18:100:100 +1 19071752 . T C 100 PASS DP=123;CSQ_Allele=C;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*329T>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19071752T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20366;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.660462;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:3UTR;CSQ_CADD_PHRED=1.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,97:123:0.78862:65:-100:0.1338:15,31,13,13,9,16,20,41,14,18,12,18:100:100 +1 19071934 . A T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*511A>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19071934A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=401;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0129782;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.275 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,13:122:0.10656:65:-100:0.2026:1,6,0,2,0,4,14,33,11,20,12,32:100:100 +1 19071967 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*544C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19071967C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2515;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.0814021;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:3UTR;CSQ_CADD_PHRED=2.164 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.1544:1,9,1,2,1,1,18,40,11,19,14,24:100:100 +1 19072413 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*990C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19072413C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=93;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.00300796;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.852 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,13:116:0.11207:65:-100:0.1407:4,4,1,1,1,2,20,28,10,24,12,22:100:100 +1 19072692 . AG A 100 PASS DP=131;CSQ_Allele=-;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*1270del;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19072693del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=400;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0129266;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.092 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0:2,5,3,1,0,2,16,51,9,24,6,25:100:100 +1 19072926 . A G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*1503A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19072926A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17671;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.57247;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:3UTR;CSQ_CADD_PHRED=3.887 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1553:16,25,8,7,4,9,35,44,15,17,5,20:100:100 +1 19073453 . G T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*2030G>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19073453G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=86;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0027767;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.684 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,16:159:0.10063:65:-100:0.1452:3,6,0,3,3,1,26,59,8,14,21,31:100:100 +1 19074449 . T G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*3026T>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19074449T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.877 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,10:131:0.07634:65:-100:0.0903:0,4,1,3,0,2,16,50,12,17,12,24:100:100 +1 19074516 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*3093A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19074516A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=92;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00297081;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.580 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,26:149:0.1745:65:-100:0.1024:7,8,4,1,0,6,25,58,9,22,11,24:100:100 +1 19074553 . T G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*3130T>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19074553T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=106;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.00342178;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.727 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,13:128:0.10156:65:-100:0.1293:1,6,2,0,0,4,19,52,16,12,6,23:100:100 +1 19074655 . G C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*3232G>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19074655G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=91;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00293966;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.558 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,23:153:0.15033:65:-100:0.1639:3,11,2,2,1,4,23,65,11,14,12,28:100:100 +1 19074803 . C G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*3380C>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19074803C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2173;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0702463;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:3UTR;CSQ_CADD_PHRED=1.759 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,19:135:0.14074:65:-100:0.1456:3,8,1,0,4,3,23,54,12,18,12,16:100:100 +1 19074853 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*3430A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19074853A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=397;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0128255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.006 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,15:134:0.11194:65:-100:0.1355:1,6,4,2,2,0,24,55,12,18,9,16:100:100 +1 19075225 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=PAX7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001135254.2;CSQ_HGVSc=NM_001135254.2:c.*3802A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.19075225A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19543;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.63291;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX7:3UTR;CSQ_CADD_PHRED=15.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,87:134:0.64925:65:-100:0.141:13,34,5,16,3,16,21,53,9,24,8,19:100:100 +1 23885498 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=ID3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_002167.5;CSQ_HGVSc=NM_002167.5:c.313A>G;CSQ_HGVSp=NP_002158.3:p.Thr105Ala;CSQ_HGVSg=1:g.23885498T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24981;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.808551;CSQ_gnomADe_AC=195763;CSQ_gnomADe_AN=245986;CSQ_gnomADe_AF=0.79583;CSQ_gnomADe_Hom=79148;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.044;CSQ_Mastermind_MMID3=ID3:T105A;CSQ_CADD_PHRED=0.316 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,99:114:0.86842:65:-100:0.1364:14,34,6,21,6,18,17,39,7,24,7,20:100:100 +1 23885662 . C G 100 PASS DP=124;CSQ_Allele=G;CSQ_SYMBOL=ID3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_002167.5;CSQ_HGVSc=NM_002167.5:c.256G>C;CSQ_HGVSp=NP_002158.3:p.Glu86Gln;CSQ_HGVSg=1:g.23885662C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=223;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00720517;CSQ_gnomADe_AC=534;CSQ_gnomADe_AN=246036;CSQ_gnomADe_AF=0.00217041;CSQ_gnomADe_Hom=5;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.399;CSQ_Mastermind_MMID3=ID3:E86Q;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,18:124:0.14516:65:-100:0.1842:3,8,1,2,2,2,12,52,8,20,10,22:100:100 +1 27056285 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=ARID1A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/20;CSQ_INTRON=.;CSQ_Feature=NM_006015.6;CSQ_HGVSc=NM_006015.6:c.1281G>A;CSQ_HGVSp=NP_006006.3:p.Pro427%3D;CSQ_HGVSg=1:g.27056285G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1623083;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=6.46162e-05;CSQ_gnomADe_AC=19;CSQ_gnomADe_AN=246174;CSQ_gnomADe_AF=7.71812e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.555 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,6:155:0.03871:65:-95.9852:0.1243:1,3,0,1,1,0,24,50,18,30,13,20:61.85:100 +1 27097750 . TC T 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=ARID1A;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/20;CSQ_INTRON=.;CSQ_Feature=NM_006015.6;CSQ_HGVSc=NM_006015.6:c.3344del;CSQ_HGVSp=NP_006006.3:p.Pro1115GlnfsTer46;CSQ_HGVSg=1:g.27097755del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61370484&COSV61370484&COSV61370484;CSQ_COSMICncMuts=COSV61370484&COSV61370484&COSV61370484&COSV61370484;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,17:155:0.10968:65:-100:0:4,4,0,4,2,3,24,61,2,30,13,25:100:100 +1 27101281 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ARID1A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/20;CSQ_INTRON=.;CSQ_Feature=NM_006015.6;CSQ_HGVSc=NM_006015.6:c.4563C>T;CSQ_HGVSp=NP_006006.3:p.Pro1521%3D;CSQ_HGVSg=1:g.27101281C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1225856;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.00061437;CSQ_gnomADe_AC=35;CSQ_gnomADe_AN=246058;CSQ_gnomADe_AF=0.000142243;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV104627584&COSV104627584&COSV104627584&COSV104627584;CSQ_COSMICncMuts=COSV104627584;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ARID1A:P1521P&ARID1A:Q1367int&ARID1A:Q1367inta;CSQ_CADD_PHRED=6.440 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,9:150:0.06:65:-100:0.1667:4,1,2,0,1,1,24,57,8,22,11,28:96.25:100 +1 27105930 . TG T 100 PASS DP=125;CSQ_Allele=-;CSQ_SYMBOL=ARID1A;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_006015.6;CSQ_HGVSc=NM_006015.6:c.5548del;CSQ_HGVSp=NP_006006.3:p.Asp1850ThrfsTer33;CSQ_HGVSg=1:g.27105937del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61371147&COSV61371147&COSV61371147&COSV61371147;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,15:125:0.12:65:-100:0:0,10,1,2,2,0,12,63,8,21,10,11:100:100 +1 36807481 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=STK40;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001282546.2;CSQ_HGVSc=NM_001282546.2:c.1198G>A;CSQ_HGVSp=NP_001269475.1:p.Ala400Thr;CSQ_HGVSg=1:g.36807481C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6756;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.218584;CSQ_gnomADe_AC=50716;CSQ_gnomADe_AN=244588;CSQ_gnomADe_AF=0.207353;CSQ_gnomADe_Hom=5694;CSQ_COSMICcMuts=COSV63734648&COSV63734648&COSV63734648&COSV63734648;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.080;CSQ_Mastermind_MMID3=STK40:A395T&STK40:A400T;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,18:136:0.13235:65:-100:0.1807:3,4,2,4,3,2,22,44,10,24,11,25:100:100 +1 36814314 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=STK40;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_001282546.2;CSQ_HGVSc=NM_001282546.2:c.741C>T;CSQ_HGVSp=NP_001269475.1:p.Pro247%3D;CSQ_HGVSg=1:g.36814314G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=3.23039e-05;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=237222;CSQ_gnomADe_AF=2.10773e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63734705&COSV63734705&COSV63734705&COSV63734705;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,10:146:0.06849:65:-100:0.1152:2,3,0,2,1,2,22,58,9,22,5,30:100:100 +1 36824418 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=STK40;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_001282546.2;CSQ_HGVSc=NM_001282546.2:c.133C>T;CSQ_HGVSp=NP_001269475.1:p.Arg45Cys;CSQ_HGVSg=1:g.36824418G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246200;CSQ_gnomADe_AF=8.12348e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63734773&COSV63734773&COSV63734773&COSV63734773;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.590;CSQ_Mastermind_MMID3=STK40:R40C&STK40:R45C;CSQ_CADD_PHRED=29.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,19:140:0.13571:65:-100:0.1411:4,5,1,5,1,3,23,45,14,21,13,24:100:100 +1 36937059 . A G 100 PASS DP=100;CSQ_Allele=G;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/17;CSQ_INTRON=.;CSQ_Feature=NM_000760.4;CSQ_HGVSc=NM_000760.4:c.1260T>C;CSQ_HGVSp=NP_000751.1:p.Thr420%3D;CSQ_HGVSg=1:g.36937059A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256790;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified;CSQ_gnomADg_AC=18277;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.592716;CSQ_gnomADe_AC=136428;CSQ_gnomADe_AN=246174;CSQ_gnomADe_AF=0.554193;CSQ_gnomADe_Hom=39192;CSQ_COSMICcMuts=COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206;CSQ_COSMICncMuts=COSV58963206&COSV58963206&COSV58963206;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:T420T;CSQ_CADD_PHRED=1.546 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,64:100:0.64:65:-100:0.1525:6,30,6,8,6,8,11,45,11,12,8,13:100:100 +1 36937059 . A G 100 PASS DP=100;CSQ_Allele=G;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/17;CSQ_INTRON=.;CSQ_Feature=NM_156039.3;CSQ_HGVSc=NM_156039.3:c.1260T>C;CSQ_HGVSp=NP_724781.1:p.Thr420%3D;CSQ_HGVSg=1:g.36937059A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256790;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified;CSQ_gnomADg_AC=18277;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.592716;CSQ_gnomADe_AC=136428;CSQ_gnomADe_AN=246174;CSQ_gnomADe_AF=0.554193;CSQ_gnomADe_Hom=39192;CSQ_COSMICcMuts=COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206;CSQ_COSMICncMuts=COSV58963206&COSV58963206&COSV58963206;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:T420T;CSQ_CADD_PHRED=1.546 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,64:100:0.64:65:-100:0.1525:6,30,6,8,6,8,11,45,11,12,8,13:100:100 +1 36937059 . A G 100 PASS DP=100;CSQ_Allele=G;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/18;CSQ_INTRON=.;CSQ_Feature=NM_172313.3;CSQ_HGVSc=NM_172313.3:c.1260T>C;CSQ_HGVSp=NP_758519.1:p.Thr420%3D;CSQ_HGVSg=1:g.36937059A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256790;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified;CSQ_gnomADg_AC=18277;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.592716;CSQ_gnomADe_AC=136428;CSQ_gnomADe_AN=246174;CSQ_gnomADe_AF=0.554193;CSQ_gnomADe_Hom=39192;CSQ_COSMICcMuts=COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206&COSV58963206;CSQ_COSMICncMuts=COSV58963206&COSV58963206&COSV58963206;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:T420T;CSQ_CADD_PHRED=1.546 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,64:100:0.64:65:-100:0.1525:6,30,6,8,6,8,11,45,11,12,8,13:100:100 +1 36937065 . A G 100 PASS DP=96;CSQ_Allele=G;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/17;CSQ_INTRON=.;CSQ_Feature=NM_000760.4;CSQ_HGVSc=NM_000760.4:c.1254T>C;CSQ_HGVSp=NP_000751.1:p.Arg418%3D;CSQ_HGVSg=1:g.36937065A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256789;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified;CSQ_gnomADg_AC=8689;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.281544;CSQ_gnomADe_AC=77282;CSQ_gnomADe_AN=246168;CSQ_gnomADe_AF=0.31394;CSQ_gnomADe_Hom=13084;CSQ_COSMICcMuts=COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449;CSQ_COSMICncMuts=COSV58963449&COSV58963449&COSV58963449;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:R418R;CSQ_CADD_PHRED=1.531 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,38:96:0.39583:65:-100:0.1273:4,18,1,6,2,7,11,43,9,13,5,15:100:100 +1 36937065 . A G 100 PASS DP=96;CSQ_Allele=G;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/17;CSQ_INTRON=.;CSQ_Feature=NM_156039.3;CSQ_HGVSc=NM_156039.3:c.1254T>C;CSQ_HGVSp=NP_724781.1:p.Arg418%3D;CSQ_HGVSg=1:g.36937065A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256789;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified;CSQ_gnomADg_AC=8689;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.281544;CSQ_gnomADe_AC=77282;CSQ_gnomADe_AN=246168;CSQ_gnomADe_AF=0.31394;CSQ_gnomADe_Hom=13084;CSQ_COSMICcMuts=COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449;CSQ_COSMICncMuts=COSV58963449&COSV58963449&COSV58963449;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:R418R;CSQ_CADD_PHRED=1.531 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,38:96:0.39583:65:-100:0.1273:4,18,1,6,2,7,11,43,9,13,5,15:100:100 +1 36937065 . A G 100 PASS DP=96;CSQ_Allele=G;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/18;CSQ_INTRON=.;CSQ_Feature=NM_172313.3;CSQ_HGVSc=NM_172313.3:c.1254T>C;CSQ_HGVSp=NP_758519.1:p.Arg418%3D;CSQ_HGVSg=1:g.36937065A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256789;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified;CSQ_gnomADg_AC=8689;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.281544;CSQ_gnomADe_AC=77282;CSQ_gnomADe_AN=246168;CSQ_gnomADe_AF=0.31394;CSQ_gnomADe_Hom=13084;CSQ_COSMICcMuts=COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449&COSV58963449;CSQ_COSMICncMuts=COSV58963449&COSV58963449&COSV58963449;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:R418R;CSQ_CADD_PHRED=1.531 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,38:96:0.39583:65:-100:0.1273:4,18,1,6,2,7,11,43,9,13,5,15:100:100 +1 36941231 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_000760.4;CSQ_HGVSc=NM_000760.4:c.108C>T;CSQ_HGVSp=NP_000751.1:p.Val36%3D;CSQ_HGVSg=1:g.36941231G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=434838;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified¬_provided;CSQ_gnomADg_AC=59;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.00190729;CSQ_gnomADe_AC=416;CSQ_gnomADe_AN=245164;CSQ_gnomADe_AF=0.00169682;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496;CSQ_COSMICncMuts=COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:V36V;CSQ_CADD_PHRED=8.260 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,8:140:0.05714:65:-100:0.125:1,4,1,2,0,0,15,52,17,24,9,23:88.476:100 +1 36941231 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_156039.3;CSQ_HGVSc=NM_156039.3:c.108C>T;CSQ_HGVSp=NP_724781.1:p.Val36%3D;CSQ_HGVSg=1:g.36941231G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=434838;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified¬_provided;CSQ_gnomADg_AC=59;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.00190729;CSQ_gnomADe_AC=416;CSQ_gnomADe_AN=245164;CSQ_gnomADe_AF=0.00169682;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496;CSQ_COSMICncMuts=COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:V36V;CSQ_CADD_PHRED=8.260 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,8:140:0.05714:65:-100:0.125:1,4,1,2,0,0,15,52,17,24,9,23:88.476:100 +1 36941231 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=CSF3R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/18;CSQ_INTRON=.;CSQ_Feature=NM_172313.3;CSQ_HGVSc=NM_172313.3:c.108C>T;CSQ_HGVSp=NP_758519.1:p.Val36%3D;CSQ_HGVSg=1:g.36941231G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=434838;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_severe_congenital_neutropenia_due_to_CSF3R_deficiency¬_specified¬_provided;CSQ_gnomADg_AC=59;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.00190729;CSQ_gnomADe_AC=416;CSQ_gnomADe_AN=245164;CSQ_gnomADe_AF=0.00169682;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496;CSQ_COSMICncMuts=COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496&COSV58968496;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF3R:V36V;CSQ_CADD_PHRED=8.260 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,8:140:0.05714:65:-100:0.125:1,4,1,2,0,0,15,52,17,24,9,23:88.476:100 +1 40356155 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=MYCL;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001033081.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=1:g.40356155A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4786;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.154787;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,19:94:0.20213:65:-100:0.1132:1,9,0,6,0,3,12,33,1,19,8,21:100:100 +1 40363054 . G C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=MYCL;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_001033081.3;CSQ_HGVSc=NM_001033081.3:c.1085C>G;CSQ_HGVSp=NP_001028253.1:p.Thr362Ser;CSQ_HGVSg=1:g.40363054G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28227;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.911607;CSQ_gnomADe_AC=212501;CSQ_gnomADe_AN=240322;CSQ_gnomADe_AF=0.884234;CSQ_gnomADe_Hom=94259;CSQ_COSMICcMuts=COSV65693710&COSV65693710;CSQ_COSMICncMuts=COSV65693710&COSV65693710&COSV65693710&COSV65693710;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=0.207;CSQ_Mastermind_MMID3=MYCL:T362S&MYCL:T392S;CSQ_CADD_PHRED=16.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,139:139:1:65:-100:0.0733:32,44,16,25,6,16,32,44,16,25,6,16:100:100 +1 40364803 . C A 100 PASS DP=104;CSQ_Allele=A;CSQ_SYMBOL=MYCL;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_001033081.3;CSQ_HGVSc=NM_001033081.3:c.497-1161G>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.40364803C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18263;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.590615;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYCL:E166int&MYCL:E166inta&MYCL:E196int&MYCL:E196inta;CSQ_CADD_PHRED=12.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,72:104:0.69231:65:-100:0.2296:12,31,8,9,4,8,15,44,12,15,5,13:100:100 +1 40364988 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=MYCL;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_001033081.3;CSQ_HGVSc=NM_001033081.3:c.497-1346G>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.40364988C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1280;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.041317;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.08 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1103:0,2,2,0,1,3,18,46,5,23,14,23:92.593:100 +1 40365376 . G C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=MYCL;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_001033081.3;CSQ_HGVSc=NM_001033081.3:c.496+1235C>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.40365376G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=198;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00639287;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.998 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,6:119:0.05042:65:-96.7521:0.1314:1,3,0,1,0,1,17,44,10,20,11,17:65.312:100 +1 40366768 . G A 100 PASS DP=59;CSQ_Allele=A;CSQ_SYMBOL=MYCL;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_001033081.3;CSQ_HGVSc=NM_001033081.3:c.339C>T;CSQ_HGVSp=NP_001028253.1:p.Leu113%3D;CSQ_HGVSg=1:g.40366768G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=246;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.00796477;CSQ_gnomADe_AC=1983;CSQ_gnomADe_AN=193222;CSQ_gnomADe_AF=0.0102628;CSQ_gnomADe_Hom=24;CSQ_COSMICcMuts=COSV100862380&COSV100862380&COSV100862380&COSV100862380;CSQ_COSMICncMuts=COSV100862380&COSV100862380;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,9:59:0.15254:65:-52.6955:0.1061:1,5,2,0,0,1,13,13,13,7,9,4:100:100 +1 45797505 . C G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=MUTYH;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_001048171.2;CSQ_HGVSc=NM_001048171.2:c.930G>C;CSQ_HGVSp=NP_001041636.2:p.Gln310His;CSQ_HGVSg=1:g.45797505C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41767;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Familial_adenomatous_polyposis_2&Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=7973;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.25836;CSQ_gnomADe_AC=65945;CSQ_gnomADe_AN=228086;CSQ_gnomADe_AF=0.289123;CSQ_gnomADe_Hom=10375;CSQ_COSMICcMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_COSMICncMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.043;CSQ_Mastermind_MMID3=MUTYH:Q195H&MUTYH:Q218H&MUTYH:Q310H&MUTYH:Q311H&MUTYH:Q321H&MUTYH:Q324H&MUTYH:Q325H&MUTYH:Q335H&MUTYH:Q338H;CSQ_CADD_PHRED=12.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,54:113:0.47788:65:-100:0.1439:9,19,4,9,4,9,19,43,5,18,6,22:100:100 +1 45797505 . C G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=MUTYH;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_001048172.2;CSQ_HGVSc=NM_001048172.2:c.933G>C;CSQ_HGVSp=NP_001041637.1:p.Gln311His;CSQ_HGVSg=1:g.45797505C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41767;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Familial_adenomatous_polyposis_2&Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=7973;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.25836;CSQ_gnomADe_AC=65945;CSQ_gnomADe_AN=228086;CSQ_gnomADe_AF=0.289123;CSQ_gnomADe_Hom=10375;CSQ_COSMICcMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_COSMICncMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.043;CSQ_Mastermind_MMID3=MUTYH:Q195H&MUTYH:Q218H&MUTYH:Q310H&MUTYH:Q311H&MUTYH:Q321H&MUTYH:Q324H&MUTYH:Q325H&MUTYH:Q335H&MUTYH:Q338H;CSQ_CADD_PHRED=12.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,54:113:0.47788:65:-100:0.1439:9,19,4,9,4,9,19,43,5,18,6,22:100:100 +1 45797505 . C G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=MUTYH;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_001048174.2;CSQ_HGVSc=NM_001048174.2:c.930G>C;CSQ_HGVSp=NP_001041639.1:p.Gln310His;CSQ_HGVSg=1:g.45797505C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41767;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Familial_adenomatous_polyposis_2&Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=7973;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.25836;CSQ_gnomADe_AC=65945;CSQ_gnomADe_AN=228086;CSQ_gnomADe_AF=0.289123;CSQ_gnomADe_Hom=10375;CSQ_COSMICcMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_COSMICncMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.043;CSQ_Mastermind_MMID3=MUTYH:Q195H&MUTYH:Q218H&MUTYH:Q310H&MUTYH:Q311H&MUTYH:Q321H&MUTYH:Q324H&MUTYH:Q325H&MUTYH:Q335H&MUTYH:Q338H;CSQ_CADD_PHRED=12.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,54:113:0.47788:65:-100:0.1439:9,19,4,9,4,9,19,43,5,18,6,22:100:100 +1 45797505 . C G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=MUTYH;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_001128425.2;CSQ_HGVSc=NM_001128425.2:c.1014G>C;CSQ_HGVSp=NP_001121897.1:p.Gln338His;CSQ_HGVSg=1:g.45797505C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41767;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Familial_adenomatous_polyposis_2&Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=7973;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.25836;CSQ_gnomADe_AC=65945;CSQ_gnomADe_AN=228086;CSQ_gnomADe_AF=0.289123;CSQ_gnomADe_Hom=10375;CSQ_COSMICcMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_COSMICncMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.043;CSQ_Mastermind_MMID3=MUTYH:Q195H&MUTYH:Q218H&MUTYH:Q310H&MUTYH:Q311H&MUTYH:Q321H&MUTYH:Q324H&MUTYH:Q325H&MUTYH:Q335H&MUTYH:Q338H;CSQ_CADD_PHRED=12.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,54:113:0.47788:65:-100:0.1439:9,19,4,9,4,9,19,43,5,18,6,22:100:100 +1 45797505 . C G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=MUTYH;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/17;CSQ_INTRON=.;CSQ_Feature=NM_001293195.2;CSQ_HGVSc=NM_001293195.2:c.930G>C;CSQ_HGVSp=NP_001280124.1:p.Gln310His;CSQ_HGVSg=1:g.45797505C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41767;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Familial_adenomatous_polyposis_2&Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=7973;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.25836;CSQ_gnomADe_AC=65945;CSQ_gnomADe_AN=228086;CSQ_gnomADe_AF=0.289123;CSQ_gnomADe_Hom=10375;CSQ_COSMICcMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_COSMICncMuts=COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790&COSV58343790;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.043;CSQ_Mastermind_MMID3=MUTYH:Q195H&MUTYH:Q218H&MUTYH:Q310H&MUTYH:Q311H&MUTYH:Q321H&MUTYH:Q324H&MUTYH:Q325H&MUTYH:Q335H&MUTYH:Q338H;CSQ_CADD_PHRED=12.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,54:113:0.47788:65:-100:0.1439:9,19,4,9,4,9,19,43,5,18,6,22:100:100 +1 46521517 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=PIK3R3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_001114172.1;CSQ_HGVSc=NM_001114172.1:c.891C>T;CSQ_HGVSp=NP_001107644.1:p.Ser297%3D;CSQ_HGVSg=1:g.46521517G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20785;CSQ_gnomADg_AN=30718;CSQ_gnomADg_AF=0.676639;CSQ_gnomADe_AC=164827;CSQ_gnomADe_AN=241570;CSQ_gnomADe_AF=0.682316;CSQ_gnomADe_Hom=56603;CSQ_COSMICcMuts=COSV53105695&COSV53105695&COSV53105695&COSV53105695&COSV53105695&COSV53105695&COSV53105695;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=P3R3URF-PIK3R3:S343S&PIK3R3:R255int&PIK3R3:R255intd&PIK3R3:S141S&PIK3R3:S216S&PIK3R3:S253S&PIK3R3:S297S&PIK3R3:S314S;CSQ_CADD_PHRED=11.05 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,84:121:0.69421:65:-100:0.1168:11,30,6,19,7,11,19,40,7,28,8,19:100:100 +1 46521517 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=PIK3R3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_003629.4;CSQ_HGVSc=NM_003629.4:c.891C>T;CSQ_HGVSp=NP_003620.3:p.Ser297%3D;CSQ_HGVSg=1:g.46521517G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20785;CSQ_gnomADg_AN=30718;CSQ_gnomADg_AF=0.676639;CSQ_gnomADe_AC=164827;CSQ_gnomADe_AN=241570;CSQ_gnomADe_AF=0.682316;CSQ_gnomADe_Hom=56603;CSQ_COSMICcMuts=COSV53105695&COSV53105695&COSV53105695&COSV53105695&COSV53105695&COSV53105695&COSV53105695;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=P3R3URF-PIK3R3:S343S&PIK3R3:R255int&PIK3R3:R255intd&PIK3R3:S141S&PIK3R3:S216S&PIK3R3:S253S&PIK3R3:S297S&PIK3R3:S314S;CSQ_CADD_PHRED=11.05 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,84:121:0.69421:65:-100:0.1168:11,30,6,19,7,11,19,40,7,28,8,19:100:100 +1 46521559 . A T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=PIK3R3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_001114172.1;CSQ_HGVSc=NM_001114172.1:c.849T>A;CSQ_HGVSp=NP_001107644.1:p.Asn283Lys;CSQ_HGVSg=1:g.46521559A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22152;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.718847;CSQ_gnomADe_AC=169060;CSQ_gnomADe_AN=243700;CSQ_gnomADe_AF=0.693722;CSQ_gnomADe_Hom=58962;CSQ_COSMICcMuts=COSV53106348&COSV53106348&COSV53106348&COSV53106348&COSV53106348&COSV53106348&COSV53106348;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.129;CSQ_Mastermind_MMID3=P3R3URF-PIK3R3:N329K&PIK3R3:N127K&PIK3R3:N202K&PIK3R3:N239K&PIK3R3:N283K&PIK3R3:N300K&PIK3R3:R255int&PIK3R3:R255intd;CSQ_CADD_PHRED=17.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,77:110:0.7:65:-100:0.1129:11,23,7,18,3,15,19,30,12,24,6,19:100:100 +1 46521559 . A T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=PIK3R3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_003629.4;CSQ_HGVSc=NM_003629.4:c.849T>A;CSQ_HGVSp=NP_003620.3:p.Asn283Lys;CSQ_HGVSg=1:g.46521559A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22152;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.718847;CSQ_gnomADe_AC=169060;CSQ_gnomADe_AN=243700;CSQ_gnomADe_AF=0.693722;CSQ_gnomADe_Hom=58962;CSQ_COSMICcMuts=COSV53106348&COSV53106348&COSV53106348&COSV53106348&COSV53106348&COSV53106348&COSV53106348;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.129;CSQ_Mastermind_MMID3=P3R3URF-PIK3R3:N329K&PIK3R3:N127K&PIK3R3:N202K&PIK3R3:N239K&PIK3R3:N283K&PIK3R3:N300K&PIK3R3:R255int&PIK3R3:R255intd;CSQ_CADD_PHRED=17.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,77:110:0.7:65:-100:0.1129:11,23,7,18,3,15,19,30,12,24,6,19:100:100 +1 46738433 . C A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=RAD54L;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/18;CSQ_INTRON=.;CSQ_Feature=NM_003579.4;CSQ_HGVSc=NM_003579.4:c.1334C>A;CSQ_HGVSp=NP_003570.2:p.Ser445Tyr;CSQ_HGVSg=1:g.46738433C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64336843&COSV64336843;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.23;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=0.927;CSQ_Mastermind_MMID3=RAD54L:S445Y;CSQ_CADD_PHRED=30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,5:129:0.03876:65:-96.7521:0.1623:1,1,1,0,0,2,19,44,13,32,6,15:60.557:100 +1 46743757 . CGTT C 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=RAD54L;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=18/18;CSQ_INTRON=.;CSQ_Feature=NM_003579.4;CSQ_HGVSc=NM_003579.4:c.2050_2052del;CSQ_HGVSp=NP_003570.2:p.Cys684del;CSQ_HGVSg=1:g.46743760_46743762del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,7:118:0.05932:65:-100:0:2,2,0,2,0,1,20,45,8,22,6,16:77.706:100 +1 46743923 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=RAD54L;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/18;CSQ_INTRON=.;CSQ_Feature=NM_003579.4;CSQ_HGVSc=NM_003579.4:c.2213G>A;CSQ_HGVSp=NP_003570.2:p.Arg738His;CSQ_HGVSg=1:g.46743923G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=200;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00646371;CSQ_gnomADe_AC=1211;CSQ_gnomADe_AN=245128;CSQ_gnomADe_AF=0.00494028;CSQ_gnomADe_Hom=7;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=0.235;CSQ_Mastermind_MMID3=LRRC41:3UTR&RAD54L:R558H&RAD54L:R738H;CSQ_CADD_PHRED=17.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1769:6,4,2,2,1,1,29,37,9,17,9,20:100:100 +1 51437902 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=CDKN2C;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_078626.3;CSQ_HGVSc=NM_078626.3:c.130-1663G>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.51437902G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30844;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.997026;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.91 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,112:112:1:65:-100:0.125:17,40,10,21,11,13,17,40,10,21,11,13:100:100 +1 59250710 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=JUN;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002228.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=1:g.59250710G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1860;CSQ_gnomADg_AN=30830;CSQ_gnomADg_AF=0.0603308;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,6:128:0.04688:65:-98.5248:0.1351:2,2,0,0,1,1,26,40,11,21,8,22:63.591:100 +1 65310489 . T C 100 PASS DP=147;CSQ_Allele=C;CSQ_SYMBOL=JAK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/25;CSQ_INTRON=.;CSQ_Feature=NM_002227.4;CSQ_HGVSc=NM_002227.4:c.2199A>G;CSQ_HGVSp=NP_002218.2:p.Pro733%3D;CSQ_HGVSg=1:g.65310489T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169782;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11478;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.371721;CSQ_gnomADe_AC=72460;CSQ_gnomADe_AN=246192;CSQ_gnomADe_AF=0.294323;CSQ_gnomADe_Hom=11906;CSQ_COSMICcMuts=COSV61087119;CSQ_COSMICncMuts=COSV61087119;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=JAK1:P732P&JAK1:P733P;CSQ_CADD_PHRED=0.529 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,33:147:0.22449:65:-100:0.1695:5,17,0,6,1,4,21,64,10,20,7,25:100:100 +1 65312342 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=JAK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/25;CSQ_INTRON=.;CSQ_Feature=NM_002227.4;CSQ_HGVSc=NM_002227.4:c.1977C>T;CSQ_HGVSp=NP_002218.2:p.Arg659%3D;CSQ_HGVSg=1:g.65312342G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169784;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1649;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0532967;CSQ_gnomADe_AC=7604;CSQ_gnomADe_AN=245874;CSQ_gnomADe_AF=0.0309264;CSQ_gnomADe_Hom=195;CSQ_COSMICcMuts=COSV61088458;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=JAK1:R658R&JAK1:R659R;CSQ_CADD_PHRED=1.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,9:153:0.05882:65:-100:0.1307:2,2,1,2,2,0,30,52,10,34,13,14:90.157:100 +1 65332696 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=JAK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/25;CSQ_INTRON=.;CSQ_Feature=NM_002227.4;CSQ_HGVSc=NM_002227.4:c.843C>T;CSQ_HGVSp=NP_002218.2:p.Tyr281%3D;CSQ_HGVSg=1:g.65332696G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=8;CSQ_gnomADe_AN=246094;CSQ_gnomADe_AF=3.25079e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61089663;CSQ_COSMICncMuts=COSV61089663;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.325 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,10:148:0.06757:65:-100:0.103:0,4,0,3,1,2,26,51,14,28,9,20:99.787:100 +1 71873219 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=NEGR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_173808.3;CSQ_HGVSc=NM_173808.3:c.975C>T;CSQ_HGVSp=NP_776169.2:p.Ser325%3D;CSQ_HGVSg=1:g.71873219G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=775561;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=132;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.00426936;CSQ_gnomADe_AC=348;CSQ_gnomADe_AN=245236;CSQ_gnomADe_AF=0.00141904;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.13;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,12:122:0.09836:65:-100:0.1757:1,2,2,2,3,2,18,42,17,18,13,14:100:100 +1 72058543 . A T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=NEGR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/7;CSQ_INTRON=.;CSQ_Feature=NM_173808.3;CSQ_HGVSc=NM_173808.3:c.897T>A;CSQ_HGVSp=NP_776169.2:p.Ala299%3D;CSQ_HGVSg=1:g.72058543A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1188;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0383746;CSQ_gnomADe_AC=6554;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.0266386;CSQ_gnomADe_Hom=284;CSQ_COSMICcMuts=COSV60830141&COSV60830141&COSV60830141;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NEGR1:A299A;CSQ_CADD_PHRED=13.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,7:124:0.05645:65:-97.8929:0.1389:0,3,1,1,0,2,18,42,12,16,12,24:77.678:100 +1 72058552 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=NEGR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/7;CSQ_INTRON=.;CSQ_Feature=NM_173808.3;CSQ_HGVSc=NM_173808.3:c.888C>T;CSQ_HGVSp=NP_776169.2:p.Thr296%3D;CSQ_HGVSg=1:g.72058552G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27855;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.900466;CSQ_gnomADe_AC=233115;CSQ_gnomADe_AN=246092;CSQ_gnomADe_AF=0.947268;CSQ_gnomADe_Hom=111295;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NEGR1:T296T;CSQ_CADD_PHRED=6.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,102:123:0.82927:65:-100:0.1277:16,34,10,14,10,18,19,41,13,16,12,22:100:100 +1 72748084 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=NEGR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_173808.3;CSQ_HGVSc=NM_173808.3:c.94C>G;CSQ_HGVSp=NP_776169.2:p.Leu32Val;CSQ_HGVSg=1:g.72748084G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=713750;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=201;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.00651033;CSQ_gnomADe_AC=1566;CSQ_gnomADe_AN=246158;CSQ_gnomADe_AF=0.00636177;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=COSV99080820&COSV99080820;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=NEGR1:L32V;CSQ_CADD_PHRED=20.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,6:129:0.04651:65:-97.7418:0.1103:1,2,0,1,0,2,20,39,8,24,16,22:72.976:100 +1 85733374 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=BCL10;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_003921.5;CSQ_HGVSc=NM_003921.5:c.638G>A;CSQ_HGVSp=NP_003912.1:p.Gly213Glu;CSQ_HGVSg=1:g.85733374C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402410;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_37¬_specified;CSQ_gnomADg_AC=1446;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0466903;CSQ_gnomADe_AC=15976;CSQ_gnomADe_AN=245986;CSQ_gnomADe_AF=0.0649468;CSQ_gnomADe_Hom=671;CSQ_COSMICcMuts=COSV65353501;CSQ_COSMICncMuts=COSV65353501;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.057;CSQ_Mastermind_MMID3=BCL10:G202E&BCL10:G213E;CSQ_CADD_PHRED=14.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,26:143:0.18182:65:-100:0.1588:4,6,3,7,3,3,15,47,14,24,18,25:100:100 +1 85740024 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=BCL10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_003921.5;CSQ_HGVSc=NM_003921.5:c.57+1955A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.85740024T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7094;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.229268;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL10:D19int&BCL10:D19intd;CSQ_CADD_PHRED=12.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,17:140:0.12143:65:-100:0.0968:2,6,1,6,1,1,23,56,8,29,14,10:100:100 +1 85742012 . G C 100 PASS DP=95;CSQ_Allele=C;CSQ_SYMBOL=BCL10;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_003921.5;CSQ_HGVSc=NM_003921.5:c.24C>G;CSQ_HGVSp=NP_003912.1:p.Leu8%3D;CSQ_HGVSg=1:g.85742012G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402411;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_37¬_specified;CSQ_gnomADg_AC=8733;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.282621;CSQ_gnomADe_AC=66550;CSQ_gnomADe_AN=244682;CSQ_gnomADe_AF=0.271986;CSQ_gnomADe_Hom=9768;CSQ_COSMICcMuts=COSV65353426;CSQ_COSMICncMuts=COSV65353426&COSV65353426;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL10:L8L;CSQ_CADD_PHRED=11.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,23:95:0.24211:65:-100:0.181:0,10,2,7,0,4,5,29,12,23,9,17:100:100 +1 115249725 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=NRAS;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_002524.5;CSQ_HGVSc=NM_002524.5:c.*990C>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.115249725G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.441 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,18:122:0.14754:65:-100:0.1921:4,8,0,2,3,1,24,42,7,21,9,19:100:100 +1 115257521 . C T 100 PASS DP=113;CSQ_Allele=T;CSQ_SYMBOL=NRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/6;CSQ_Feature=NM_002524.5;CSQ_HGVSc=NM_002524.5:c.112-922G>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.115257521C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23263;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.752166;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRAS:E37int&NRAS:E37inta;CSQ_CADD_PHRED=1.548 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,102:113:0.90265:65:-100:0.1504:20,38,8,15,6,15,21,43,9,15,7,18:100:100 +1 115259469 . A T 100 PASS DP=69;CSQ_Allele=T;CSQ_SYMBOL=NRAS;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002524.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=1:g.115259469A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=291980;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Noonan_syndrome¬_provided;CSQ_gnomADg_AC=548;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0177186;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54737712;CSQ_COSMICncMuts=COSV54737712&COSV54737712&COSV54737712&COSV54737712&COSV54737712&COSV54737712&COSV54737712&COSV54737712&COSV54737712&COSV54737712;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.77 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,7:69:0.10145:65:-100:0.1977:1,2,0,3,0,1,10,27,4,12,4,12:100:100 +1 115259550 . A G 100 PASS DP=83;CSQ_Allele=G;CSQ_SYMBOL=NRAS;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002524.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=1:g.115259550A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=308;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.00994061;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,9:83:0.10843:65:-100:0.1531:1,2,0,3,1,2,18,23,12,15,8,7:100:100 +1 118156053 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=FAM46C;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_017709.4;CSQ_HGVSc=NM_017709.4:c.-28+7278G>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.118156053G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3969;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.128314;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TENT5C:5UTR&TENT5C:5UTRint&TENT5C:5UTRintd;CSQ_CADD_PHRED=0.824 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,11:132:0.08333:65:-100:0.1902:1,3,1,2,0,4,20,41,7,22,13,29:100:100 +1 118165691 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=FAM46C;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_017709.4;CSQ_HGVSc=NM_017709.4:c.201C>T;CSQ_HGVSp=NP_060179.2:p.His67%3D;CSQ_HGVSg=1:g.118165691C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8766;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.283524;CSQ_gnomADe_AC=64286;CSQ_gnomADe_AN=246190;CSQ_gnomADe_AF=0.261124;CSQ_gnomADe_Hom=9135;CSQ_COSMICcMuts=COSV65616400;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TENT5C:H67H;CSQ_CADD_PHRED=11.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,38:161:0.23602:65:-100:0.1701:5,18,3,5,4,3,24,56,18,28,14,21:100:100 +1 118165973 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=FAM46C;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_017709.4;CSQ_HGVSc=NM_017709.4:c.483C>T;CSQ_HGVSp=NP_060179.2:p.Asn161%3D;CSQ_HGVSg=1:g.118165973C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7786;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.251795;CSQ_gnomADe_AC=63813;CSQ_gnomADe_AN=245838;CSQ_gnomADe_AF=0.259573;CSQ_gnomADe_Hom=8557;CSQ_COSMICcMuts=COSV65616453;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TENT5C:N161N;CSQ_CADD_PHRED=7.013 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,21:164:0.12805:65:-100:0.1633:2,7,3,2,2,5,22,62,13,28,20,19:100:100 +1 118166096 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=FAM46C;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_017709.4;CSQ_HGVSc=NM_017709.4:c.606C>T;CSQ_HGVSp=NP_060179.2:p.Ile202%3D;CSQ_HGVSg=1:g.118166096C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3881;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.125534;CSQ_gnomADe_AC=43771;CSQ_gnomADe_AN=246076;CSQ_gnomADe_AF=0.177876;CSQ_gnomADe_Hom=4400;CSQ_COSMICcMuts=COSV65616130;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TENT5C:I202I;CSQ_CADD_PHRED=10.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,16:146:0.10959:65:-100:0.1844:4,7,1,1,1,2,26,59,6,20,10,25:100:100 +1 118166353 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=FAM46C;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_017709.4;CSQ_HGVSc=NM_017709.4:c.863T>C;CSQ_HGVSp=NP_060179.2:p.Leu288Ser;CSQ_HGVSg=1:g.118166353T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65615902;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=0.300;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,14:156:0.08974:65:-100:0.1136:1,8,1,1,2,1,20,60,18,25,15,18:100:100 +1 120054208 . C T 100 PASS DP=155;CSQ_Allele=T;CSQ_SYMBOL=HSD3B1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_000862.3;CSQ_HGVSc=NM_000862.3:c.228C>T;CSQ_HGVSp=NP_000853.1:p.Val76%3D;CSQ_HGVSg=1:g.120054208C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2773;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0896599;CSQ_gnomADe_AC=9833;CSQ_gnomADe_AN=245456;CSQ_gnomADe_AF=0.0400601;CSQ_gnomADe_Hom=896;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HSD3B1:V76V;CSQ_CADD_PHRED=0.365 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,19:155:0.12258:65:-100:0.0988:0,10,0,3,0,6,19,60,12,25,14,25:100:100 +1 120054215 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=HSD3B1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_000862.3;CSQ_HGVSc=NM_000862.3:c.235A>G;CSQ_HGVSp=NP_000853.1:p.Ile79Val;CSQ_HGVSg=1:g.120054215A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1222205;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3013;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0974261;CSQ_gnomADe_AC=10258;CSQ_gnomADe_AN=245340;CSQ_gnomADe_AF=0.0418114;CSQ_gnomADe_Hom=1052;CSQ_COSMICcMuts=COSV52492575&COSV52492575&COSV52492575;CSQ_COSMICncMuts=COSV52492575;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.214;CSQ_Mastermind_MMID3=HSD3B1:I79V;CSQ_CADD_PHRED=0.064 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,17:148:0.11486:65:-100:0.119:0,9,0,3,0,5,19,61,10,24,9,25:100:100 +1 120054250 . T A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=HSD3B1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_000862.3;CSQ_HGVSc=NM_000862.3:c.270T>A;CSQ_HGVSp=NP_000853.1:p.Gly90%3D;CSQ_HGVSg=1:g.120054250T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2724;CSQ_gnomADg_AN=30300;CSQ_gnomADg_AF=0.089901;CSQ_gnomADe_AC=9898;CSQ_gnomADe_AN=245542;CSQ_gnomADe_AF=0.0403108;CSQ_gnomADe_Hom=919;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HSD3B1:G90G;CSQ_CADD_PHRED=0.523 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,14:140:0.1:65:-100:0.1667:1,5,1,4,0,3,22,56,8,25,8,21:64.495:100 +1 120057002 . T C 100 PASS DP=165;CSQ_Allele=C;CSQ_SYMBOL=HSD3B1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_000862.3;CSQ_HGVSc=NM_000862.3:c.856T>C;CSQ_HGVSp=NP_000853.1:p.Phe286Leu;CSQ_HGVSg=1:g.120057002T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3513;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.113594;CSQ_gnomADe_AC=11636;CSQ_gnomADe_AN=246114;CSQ_gnomADe_AF=0.0472789;CSQ_gnomADe_Hom=1426;CSQ_COSMICcMuts=COSV52490835&COSV52490835&COSV52490835;CSQ_COSMICncMuts=COSV52490835&COSV52490835;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.115;CSQ_Mastermind_MMID3=HSD3B1:F286L;CSQ_CADD_PHRED=0.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,12:165:0.07273:65:-100:0.1361:1,4,2,4,1,0,24,66,12,27,16,20:100:100 +1 120057024 . G T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=HSD3B1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_000862.3;CSQ_HGVSc=NM_000862.3:c.878G>T;CSQ_HGVSp=NP_000853.1:p.Trp293Leu;CSQ_HGVSg=1:g.120057024G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52491878&COSV52491878&COSV52491878;CSQ_COSMICncMuts=COSV52491878&COSV52491878;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=0.381;CSQ_Mastermind_MMID3=HSD3B1:W293L;CSQ_CADD_PHRED=22.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,6:170:0.03529:65:-94.422:0.1371:2,1,0,1,1,1,29,61,16,25,17,22:68.428:100 +1 120057158 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=HSD3B1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_000862.3;CSQ_HGVSc=NM_000862.3:c.1012C>T;CSQ_HGVSp=NP_000853.1:p.Leu338%3D;CSQ_HGVSg=1:g.120057158C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11414;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.370056;CSQ_gnomADe_AC=111134;CSQ_gnomADe_AN=245768;CSQ_gnomADe_AF=0.452191;CSQ_gnomADe_Hom=27248;CSQ_COSMICcMuts=COSV52489861&COSV52489861&COSV52489861;CSQ_COSMICncMuts=COSV52489861&COSV52489861;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HSD3B1:L338L;CSQ_CADD_PHRED=3.925 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,67:141:0.47518:65:-100:0.1506:7,28,4,7,9,12,22,49,7,15,23,25:100:100 +1 120057246 . C A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=HSD3B1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_000862.3;CSQ_HGVSc=NM_000862.3:c.1100C>A;CSQ_HGVSp=NP_000853.1:p.Thr367Asn;CSQ_HGVSg=1:g.120057246C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274004;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=23719;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.769748;CSQ_gnomADe_AC=184386;CSQ_gnomADe_AN=244358;CSQ_gnomADe_AF=0.754573;CSQ_gnomADe_Hom=70724;CSQ_COSMICcMuts=COSV52489946&COSV52489946&COSV52489946;CSQ_COSMICncMuts=COSV52489946&COSV52489946;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=0.126;CSQ_Mastermind_MMID3=HSD3B1:T367N;CSQ_CADD_PHRED=0.022 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,81:98:0.82653:65:-100:0.1833:16,33,4,6,5,17,18,41,5,9,5,20:100:100 +1 120458004 . A T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=NOTCH2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=34/34;CSQ_INTRON=.;CSQ_Feature=NM_024408.4;CSQ_HGVSc=NM_024408.4:c.7341T>A;CSQ_HGVSp=NP_077719.2:p.Gly2447%3D;CSQ_HGVSg=1:g.120458004A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=261705;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hajdu-Cheney_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5212;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.168695;CSQ_gnomADe_AC=30225;CSQ_gnomADe_AN=246168;CSQ_gnomADe_AF=0.122782;CSQ_gnomADe_Hom=2517;CSQ_COSMICcMuts=COSV56683182;CSQ_COSMICncMuts=COSV56683182;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH2:G2447G;CSQ_CADD_PHRED=5.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,34:141:0.24113:65:-100:0.1706:5,15,3,5,2,4,23,55,15,18,13,17:100:100 +1 120458122 . A T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=NOTCH2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=34/34;CSQ_INTRON=.;CSQ_Feature=NM_024408.4;CSQ_HGVSc=NM_024408.4:c.7223T>A;CSQ_HGVSp=NP_077719.2:p.Leu2408His;CSQ_HGVSg=1:g.120458122A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134987;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=See_cases&Hajdu-Cheney_syndrome&Hirschsprung_disease&_susceptibility_to&_1&Alagille_syndrome_due_to_a_NOTCH2_point_mutation¬_specified¬_provided;CSQ_gnomADg_AC=73;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00235971;CSQ_gnomADe_AC=496;CSQ_gnomADe_AN=246068;CSQ_gnomADe_AF=0.0020157;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV104375134;CSQ_COSMICncMuts=COSV104375134;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=0.392;CSQ_Mastermind_MMID3=NOTCH2:L2408H;CSQ_CADD_PHRED=25.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,8:135:0.05926:65:-100:0.1916:1,2,1,3,0,1,14,48,14,25,11,23:99.475:100 +1 120471712 . C T 100 PASS DP=154;CSQ_Allele=T;CSQ_SYMBOL=NOTCH2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/34;CSQ_INTRON=.;CSQ_Feature=NM_024408.4;CSQ_HGVSc=NM_024408.4:c.3779G>A;CSQ_HGVSp=NP_077719.2:p.Arg1260His;CSQ_HGVSg=1:g.120471712C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134971;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hajdu-Cheney_syndrome¬_specified;CSQ_gnomADg_AC=14;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00045208;CSQ_gnomADe_AC=347;CSQ_gnomADe_AN=246250;CSQ_gnomADe_AF=0.00140914;CSQ_gnomADe_Hom=5;CSQ_COSMICcMuts=COSV56695663;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.230;CSQ_Mastermind_MMID3=NOTCH2:R1260H;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-100:0.12:1,1,0,0,3,2,25,48,18,24,15,24:73.071:100 +1 120477998 . C A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=NOTCH2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=22/22;CSQ_INTRON=.;CSQ_Feature=NM_001200001.2;CSQ_HGVSc=NM_001200001.2:c.*44G>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.120477998C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1179326;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7504;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.242628;CSQ_gnomADe_AC=43538;CSQ_gnomADe_AN=239660;CSQ_gnomADe_AF=0.181666;CSQ_gnomADe_Hom=5479;CSQ_COSMICcMuts=COSV104375007;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.296 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,27:145:0.18621:65:-100:0.1104:6,9,2,4,2,4,25,55,8,20,12,25:100:100 +1 120477998 . C A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=NOTCH2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=22/33;CSQ_Feature=NM_024408.4;CSQ_HGVSc=NM_024408.4:c.3655+97G>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.120477998C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1179326;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7504;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.242628;CSQ_gnomADe_AC=43538;CSQ_gnomADe_AN=239660;CSQ_gnomADe_AF=0.181666;CSQ_gnomADe_Hom=5479;CSQ_COSMICcMuts=COSV104375007;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH2:3UTR&NOTCH2:G1219int&NOTCH2:G1219intd;CSQ_CADD_PHRED=5.296 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,27:145:0.18621:65:-100:0.1104:6,9,2,4,2,4,25,55,8,20,12,25:100:100 +1 155880573 . C G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=RIT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_001256820.2;CSQ_HGVSc=NM_001256820.2:c.-2-276G>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.155880573C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=227047;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Noonan_syndrome_8¬_specified¬_provided;CSQ_gnomADg_AC=25276;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.817412;CSQ_gnomADe_AC=218276;CSQ_gnomADe_AN=246174;CSQ_gnomADe_AF=0.886674;CSQ_gnomADe_Hom=97940;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RIT1:5UTR&RIT1:5UTRint&RIT1:5UTRinta&RIT1:E11Q;CSQ_CADD_PHRED=1.021 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,135:146:0.92466:65:-100:0.1609:15,54,13,24,10,19,17,57,14,27,11,20:100:100 +1 155880573 . C G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=RIT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_001256821.2;CSQ_HGVSc=NM_001256821.2:c.31G>C;CSQ_HGVSp=NP_001243750.1:p.Glu11Gln;CSQ_HGVSg=1:g.155880573C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=227047;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Noonan_syndrome_8¬_specified¬_provided;CSQ_gnomADg_AC=25276;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.817412;CSQ_gnomADe_AC=218276;CSQ_gnomADe_AN=246174;CSQ_gnomADe_AF=0.886674;CSQ_gnomADe_Hom=97940;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=RIT1:5UTR&RIT1:5UTRint&RIT1:5UTRinta&RIT1:E11Q;CSQ_CADD_PHRED=1.021 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,135:146:0.92466:65:-100:0.1609:15,54,13,24,10,19,17,57,14,27,11,20:100:100 +1 156843543 . T C 100 PASS DP=191;CSQ_Allele=C;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/17;CSQ_INTRON=.;CSQ_Feature=NM_001007792.1;CSQ_HGVSc=NM_001007792.1:c.879T>C;CSQ_HGVSp=NP_001007793.1:p.Asn293%3D;CSQ_HGVSg=1:g.156843543T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1117653;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=7;CSQ_gnomADe_AN=243434;CSQ_gnomADe_AF=2.87552e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62323957&COSV62323957&COSV62323957&COSV62323957;CSQ_COSMICncMuts=COSV62323957;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.951 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:175,16:191:0.08377:65:-100:0.1549:1,7,1,1,3,3,32,75,12,32,14,26:100:100 +1 156843543 . T C 100 PASS DP=191;CSQ_Allele=C;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/16;CSQ_INTRON=.;CSQ_Feature=NM_001012331.2;CSQ_HGVSc=NM_001012331.2:c.969T>C;CSQ_HGVSp=NP_001012331.1:p.Asn323%3D;CSQ_HGVSg=1:g.156843543T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1117653;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=7;CSQ_gnomADe_AN=243434;CSQ_gnomADe_AF=2.87552e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62323957&COSV62323957&COSV62323957&COSV62323957;CSQ_COSMICncMuts=COSV62323957;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK1:N323N;CSQ_CADD_PHRED=2.951 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:175,16:191:0.08377:65:-100:0.1549:1,7,1,1,3,3,32,75,12,32,14,26:100:100 +1 156843543 . T C 100 PASS DP=191;CSQ_Allele=C;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/17;CSQ_INTRON=.;CSQ_Feature=NM_002529.4;CSQ_HGVSc=NM_002529.4:c.969T>C;CSQ_HGVSp=NP_002520.2:p.Asn323%3D;CSQ_HGVSg=1:g.156843543T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1117653;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=7;CSQ_gnomADe_AN=243434;CSQ_gnomADe_AF=2.87552e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62323957&COSV62323957&COSV62323957&COSV62323957;CSQ_COSMICncMuts=COSV62323957;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK1:N323N;CSQ_CADD_PHRED=2.951 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:175,16:191:0.08377:65:-100:0.1549:1,7,1,1,3,3,32,75,12,32,14,26:100:100 +1 156846233 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/17;CSQ_INTRON=.;CSQ_Feature=NM_001007792.1;CSQ_HGVSc=NM_001007792.1:c.1566G>A;CSQ_HGVSp=NP_001007793.1:p.Gln522%3D;CSQ_HGVSg=1:g.156846233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=292889;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis¬_specified¬_provided;CSQ_gnomADg_AC=6164;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.199547;CSQ_gnomADe_AC=54107;CSQ_gnomADe_AN=245664;CSQ_gnomADe_AF=0.220248;CSQ_gnomADe_Hom=6246;CSQ_COSMICcMuts=COSV62323674&COSV62323674&COSV62323674&COSV62323674;CSQ_COSMICncMuts=COSV62323674&COSV62323674&COSV62323674;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK1:Q522Q&NTRK1:Q552Q&NTRK1:Q558Q;CSQ_CADD_PHRED=10.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,54:169:0.31953:65:-100:0.1105:9,18,4,9,2,12,28,58,14,22,16,31:100:100 +1 156846233 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/16;CSQ_INTRON=.;CSQ_Feature=NM_001012331.2;CSQ_HGVSc=NM_001012331.2:c.1656G>A;CSQ_HGVSp=NP_001012331.1:p.Gln552%3D;CSQ_HGVSg=1:g.156846233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=292889;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis¬_specified¬_provided;CSQ_gnomADg_AC=6164;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.199547;CSQ_gnomADe_AC=54107;CSQ_gnomADe_AN=245664;CSQ_gnomADe_AF=0.220248;CSQ_gnomADe_Hom=6246;CSQ_COSMICcMuts=COSV62323674&COSV62323674&COSV62323674&COSV62323674;CSQ_COSMICncMuts=COSV62323674&COSV62323674&COSV62323674;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK1:Q522Q&NTRK1:Q552Q&NTRK1:Q558Q;CSQ_CADD_PHRED=10.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,54:169:0.31953:65:-100:0.1105:9,18,4,9,2,12,28,58,14,22,16,31:100:100 +1 156846233 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/17;CSQ_INTRON=.;CSQ_Feature=NM_002529.4;CSQ_HGVSc=NM_002529.4:c.1674G>A;CSQ_HGVSp=NP_002520.2:p.Gln558%3D;CSQ_HGVSg=1:g.156846233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=292889;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis¬_specified¬_provided;CSQ_gnomADg_AC=6164;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.199547;CSQ_gnomADe_AC=54107;CSQ_gnomADe_AN=245664;CSQ_gnomADe_AF=0.220248;CSQ_gnomADe_Hom=6246;CSQ_COSMICcMuts=COSV62323674&COSV62323674&COSV62323674&COSV62323674;CSQ_COSMICncMuts=COSV62323674&COSV62323674&COSV62323674;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK1:Q522Q&NTRK1:Q552Q&NTRK1:Q558Q;CSQ_CADD_PHRED=10.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,54:169:0.31953:65:-100:0.1105:9,18,4,9,2,12,28,58,14,22,16,31:100:100 +1 156846307 . GC G 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=NTRK1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=14/17;CSQ_INTRON=.;CSQ_Feature=NM_001007792.1;CSQ_HGVSc=NM_001007792.1:c.1645del;CSQ_HGVSp=NP_001007793.1:p.Leu549CysfsTer73;CSQ_HGVSg=1:g.156846312del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62323447&COSV62323447&COSV62323447&COSV62323447;CSQ_COSMICncMuts=COSV62323447&COSV62323447&COSV62323447;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,8:153:0.05229:65:-100:0:0,3,0,3,1,1,25,50,12,27,12,27:90.665:100 +1 156846307 . GC G 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=NTRK1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=13/16;CSQ_INTRON=.;CSQ_Feature=NM_001012331.2;CSQ_HGVSc=NM_001012331.2:c.1735del;CSQ_HGVSp=NP_001012331.1:p.Leu579CysfsTer73;CSQ_HGVSg=1:g.156846312del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62323447&COSV62323447&COSV62323447&COSV62323447;CSQ_COSMICncMuts=COSV62323447&COSV62323447&COSV62323447;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,8:153:0.05229:65:-100:0:0,3,0,3,1,1,25,50,12,27,12,27:90.665:100 +1 156846307 . GC G 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=NTRK1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=14/17;CSQ_INTRON=.;CSQ_Feature=NM_002529.4;CSQ_HGVSc=NM_002529.4:c.1753del;CSQ_HGVSp=NP_002520.2:p.Leu585CysfsTer73;CSQ_HGVSg=1:g.156846312del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62323447&COSV62323447&COSV62323447&COSV62323447;CSQ_COSMICncMuts=COSV62323447&COSV62323447&COSV62323447;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,8:153:0.05229:65:-100:0:0,3,0,3,1,1,25,50,12,27,12,27:90.665:100 +1 156848995 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/17;CSQ_INTRON=.;CSQ_Feature=NM_001007792.1;CSQ_HGVSc=NM_001007792.1:c.1779C>T;CSQ_HGVSp=NP_001007793.1:p.Ala593%3D;CSQ_HGVSg=1:g.156848995C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=138564;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis¬_specified;CSQ_gnomADg_AC=16583;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.53785;CSQ_gnomADe_AC=141461;CSQ_gnomADe_AN=243642;CSQ_gnomADe_AF=0.58061;CSQ_gnomADe_Hom=46764;CSQ_COSMICcMuts=COSV62325231&COSV62325231&COSV62325231&COSV62325231;CSQ_COSMICncMuts=COSV62325231&COSV62325231;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK1:A593A&NTRK1:A623A&NTRK1:A629A;CSQ_CADD_PHRED=7.514 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,84:139:0.60432:65:-100:0.1677:9,31,7,16,5,16,16,54,11,23,13,22:100:100 +1 156848995 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/16;CSQ_INTRON=.;CSQ_Feature=NM_001012331.2;CSQ_HGVSc=NM_001012331.2:c.1869C>T;CSQ_HGVSp=NP_001012331.1:p.Ala623%3D;CSQ_HGVSg=1:g.156848995C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=138564;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis¬_specified;CSQ_gnomADg_AC=16583;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.53785;CSQ_gnomADe_AC=141461;CSQ_gnomADe_AN=243642;CSQ_gnomADe_AF=0.58061;CSQ_gnomADe_Hom=46764;CSQ_COSMICcMuts=COSV62325231&COSV62325231&COSV62325231&COSV62325231;CSQ_COSMICncMuts=COSV62325231&COSV62325231;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK1:A593A&NTRK1:A623A&NTRK1:A629A;CSQ_CADD_PHRED=7.514 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,84:139:0.60432:65:-100:0.1677:9,31,7,16,5,16,16,54,11,23,13,22:100:100 +1 156848995 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=NTRK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/17;CSQ_INTRON=.;CSQ_Feature=NM_002529.4;CSQ_HGVSc=NM_002529.4:c.1887C>T;CSQ_HGVSp=NP_002520.2:p.Ala629%3D;CSQ_HGVSg=1:g.156848995C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=138564;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis¬_specified;CSQ_gnomADg_AC=16583;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.53785;CSQ_gnomADe_AC=141461;CSQ_gnomADe_AN=243642;CSQ_gnomADe_AF=0.58061;CSQ_gnomADe_Hom=46764;CSQ_COSMICcMuts=COSV62325231&COSV62325231&COSV62325231&COSV62325231;CSQ_COSMICncMuts=COSV62325231&COSV62325231;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK1:A593A&NTRK1:A623A&NTRK1:A629A;CSQ_CADD_PHRED=7.514 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,84:139:0.60432:65:-100:0.1677:9,31,7,16,5,16,16,54,11,23,13,22:100:100 +1 158582646 . T C 100 PASS DP=123;CSQ_Allele=C;CSQ_SYMBOL=SPTA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=51/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.7095A>G;CSQ_HGVSp=NP_003117.2:p.Ala2365%3D;CSQ_HGVSg=1:g.158582646T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258958;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=16439;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.533111;CSQ_gnomADe_AC=132865;CSQ_gnomADe_AN=245238;CSQ_gnomADe_AF=0.54178;CSQ_gnomADe_Hom=36668;CSQ_COSMICcMuts=COSV63755039;CSQ_COSMICncMuts=COSV63755039&COSV63755039;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPTA1:A2365A;CSQ_CADD_PHRED=8.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,64:123:0.52033:65:-100:0.1022:12,26,7,10,4,5,23,45,17,18,6,14:100:100 +1 158584091 . A G 100 PASS DP=86;CSQ_Allele=G;CSQ_SYMBOL=SPTA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=49/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.6794T>C;CSQ_HGVSp=NP_003117.2:p.Ile2265Thr;CSQ_HGVSg=1:g.158584091A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258957;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=15907;CSQ_gnomADg_AN=30070;CSQ_gnomADg_AF=0.528999;CSQ_gnomADe_AC=127624;CSQ_gnomADe_AN=237466;CSQ_gnomADe_AF=0.537441;CSQ_gnomADe_Hom=35337;CSQ_COSMICcMuts=COSV63754417;CSQ_COSMICncMuts=COSV63754417&COSV63754417&COSV63754417;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.047;CSQ_Mastermind_MMID3=SPTA1:I2265T;CSQ_CADD_PHRED=9.992 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,37:86:0.43023:65:-100:0.1887:6,11,3,12,2,3,11,29,8,16,9,13:100:100 +1 158590055 . G T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=SPTA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=44/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.6322C>A;CSQ_HGVSp=NP_003117.2:p.Gln2108Lys;CSQ_HGVSg=1:g.158590055G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63751220;CSQ_COSMICncMuts=COSV63751220&COSV63751220&COSV63751220;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=0.136;CSQ_Mastermind_MMID3=SPTA1:Q2108K;CSQ_CADD_PHRED=20.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,8:144:0.05556:65:-100:0.1:0,2,1,1,2,2,26,50,12,21,14,21:93.675:100 +1 158592935 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=SPTA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=43/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.5958C>T;CSQ_HGVSp=NP_003117.2:p.Pro1986%3D;CSQ_HGVSg=1:g.158592935G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258949;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=10313;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.333949;CSQ_gnomADe_AC=71473;CSQ_gnomADe_AN=245980;CSQ_gnomADe_AF=0.290564;CSQ_gnomADe_Hom=10878;CSQ_COSMICcMuts=COSV63748986;CSQ_COSMICncMuts=COSV63748986;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPTA1:P1986P;CSQ_CADD_PHRED=0.362 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,40:113:0.35398:65:-100:0.1567:10,20,1,2,2,5,17,52,4,16,8,16:100:100 +1 158592969 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=SPTA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=43/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.5924C>T;CSQ_HGVSp=NP_003117.2:p.Ala1975Val;CSQ_HGVSg=1:g.158592969G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=245690;CSQ_gnomADe_AF=1.62807e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63749600;CSQ_COSMICncMuts=COSV63749600;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.174;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,15:124:0.12097:65:-100:0.0882:2,6,1,3,1,2,22,50,5,18,10,19:100:100 +1 158597507 . G C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=SPTA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=40/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.5572C>G;CSQ_HGVSp=NP_003117.2:p.Leu1858Val;CSQ_HGVSg=1:g.158597507G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258948;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Pathogenic(1)&Benign(9)&Likely_benign(1);CSQ_ClinVar_CLNDN=Hemolytic_anemia&Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=8053;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.260396;CSQ_gnomADe_AC=62420;CSQ_gnomADe_AN=244830;CSQ_gnomADe_AF=0.254952;CSQ_gnomADe_Hom=8288;CSQ_COSMICcMuts=COSV63752283;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=0.176;CSQ_Mastermind_MMID3=SPTA1:L1858V;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,36:134:0.26866:65:-100:0.0946:6,12,5,7,2,4,22,43,13,26,14,16:100:100 +1 158606449 . G T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=SPTA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=37/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.5292C>A;CSQ_HGVSp=NP_003117.2:p.Ala1764%3D;CSQ_HGVSg=1:g.158606449G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258945;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=10601;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.34343;CSQ_gnomADe_AC=71963;CSQ_gnomADe_AN=245860;CSQ_gnomADe_AF=0.292699;CSQ_gnomADe_Hom=11122;CSQ_COSMICcMuts=COSV63752352;CSQ_COSMICncMuts=COSV63752352&COSV63752352;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPTA1:A1764A;CSQ_CADD_PHRED=2.777 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,40:110:0.36364:65:-100:0.1473:7,15,7,3,1,7,23,37,13,11,7,19:100:100 +1 158607935 . T G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=SPTA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=36/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.5077A>C;CSQ_HGVSp=NP_003117.2:p.Lys1693Gln;CSQ_HGVSg=1:g.158607935T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258943;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=7558;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.244437;CSQ_gnomADe_AC=68732;CSQ_gnomADe_AN=245636;CSQ_gnomADe_AF=0.279812;CSQ_gnomADe_Hom=10526;CSQ_COSMICcMuts=COSV63750569;CSQ_COSMICncMuts=COSV63750569&COSV63750569;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.013;CSQ_Mastermind_MMID3=SPTA1:K1693Q;CSQ_CADD_PHRED=2.110 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,18:143:0.12587:65:-100:0.0654:3,8,1,3,1,2,14,55,16,18,10,30:100:100 +1 158612236 . A G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=SPTA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=33/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.4702T>C;CSQ_HGVSp=NP_003117.2:p.Cys1568Arg;CSQ_HGVSg=1:g.158612236A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258942;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=18881;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.612224;CSQ_gnomADe_AC=142063;CSQ_gnomADe_AN=245618;CSQ_gnomADe_AF=0.57839;CSQ_gnomADe_Hom=41592;CSQ_COSMICcMuts=COSV63754161;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.049;CSQ_Mastermind_MMID3=SPTA1:C1568R;CSQ_CADD_PHRED=9.285 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,71:131:0.54198:65:-100:0.1709:11,22,7,11,5,15,22,46,12,25,6,20:100:100 +1 158619728 . A C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=SPTA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=25/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.3487T>G;CSQ_HGVSp=NP_003117.2:p.Ser1163Ala;CSQ_HGVSg=1:g.158619728A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258929;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=30791;CSQ_gnomADg_AN=30990;CSQ_gnomADg_AF=0.993579;CSQ_gnomADe_AC=244065;CSQ_gnomADe_AN=244444;CSQ_gnomADe_AF=0.99845;CSQ_gnomADe_Hom=121848;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.069;CSQ_Mastermind_MMID3=SPTA1:S1163A;CSQ_CADD_PHRED=12.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,127:127:1:65:-100:0.1056:22,42,6,28,7,22,22,42,6,28,7,22:100:100 +1 158626378 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=SPTA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.2874G>A;CSQ_HGVSp=NP_003117.2:p.Leu958%3D;CSQ_HGVSg=1:g.158626378C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258926;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=12521;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.405184;CSQ_gnomADe_AC=75361;CSQ_gnomADe_AN=245718;CSQ_gnomADe_AF=0.306697;CSQ_gnomADe_Hom=13796;CSQ_COSMICcMuts=COSV63748240;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPTA1:L958L;CSQ_CADD_PHRED=0.364 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,29:131:0.22137:65:-100:0.1709:9,11,3,2,3,1,26,47,11,17,8,22:100:100 +1 158631171 . A C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=SPTA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.2493T>G;CSQ_HGVSp=NP_003117.2:p.Leu831%3D;CSQ_HGVSg=1:g.158631171A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258922;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=7820;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.253173;CSQ_gnomADe_AC=65683;CSQ_gnomADe_AN=245638;CSQ_gnomADe_AF=0.267398;CSQ_gnomADe_Hom=9578;CSQ_COSMICcMuts=COSV63748244;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPTA1:L831L;CSQ_CADD_PHRED=8.725 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,20:137:0.14599:65:-100:0.1747:3,5,1,4,3,4,18,48,8,23,16,24:100:100 +1 158639341 . G A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=SPTA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.1690C>T;CSQ_HGVSp=NP_003117.2:p.Arg564Trp;CSQ_HGVSg=1:g.158639341G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246066;CSQ_gnomADe_AF=8.1279e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63749606;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.287;CSQ_Mastermind_MMID3=SPTA1:R564W;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,12:98:0.12245:65:-100:0.1552:2,2,1,1,2,4,14,34,8,12,7,23:100:100 +1 158647495 . A T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=SPTA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.942T>A;CSQ_HGVSp=NP_003117.2:p.Ala314%3D;CSQ_HGVSg=1:g.158647495A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258962;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=29603;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.956416;CSQ_gnomADe_AC=242048;CSQ_gnomADe_AN=245280;CSQ_gnomADe_AF=0.986823;CSQ_gnomADe_Hom=119560;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPTA1:A314A;CSQ_CADD_PHRED=10.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,145:145:1:65:-100:0.0938:24,56,10,26,7,22,24,56,10,26,7,22:100:100 +1 158647522 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=SPTA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.915T>C;CSQ_HGVSp=NP_003117.2:p.Ser305%3D;CSQ_HGVSg=1:g.158647522A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258961;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=15804;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.512186;CSQ_gnomADe_AC=134894;CSQ_gnomADe_AN=245246;CSQ_gnomADe_AF=0.550035;CSQ_gnomADe_Hom=38149;CSQ_COSMICcMuts=COSV63750610;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPTA1:S305S;CSQ_CADD_PHRED=10.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,88:157:0.56051:65:-100:0.0925:14,30,11,13,5,15,24,55,18,25,13,22:100:100 +1 158655036 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=SPTA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/52;CSQ_INTRON=.;CSQ_Feature=NM_003126.4;CSQ_HGVSc=NM_003126.4:c.126C>T;CSQ_HGVSp=NP_003117.2:p.Val42%3D;CSQ_HGVSg=1:g.158655036G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258916;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pyropoikilocytosis&_hereditary&Elliptocytosis_2&Hereditary_spherocytosis_type_3¬_specified¬_provided;CSQ_gnomADg_AC=30144;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.974021;CSQ_gnomADe_AC=241878;CSQ_gnomADe_AN=243572;CSQ_gnomADe_AF=0.993045;CSQ_gnomADe_Hom=120151;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SPTA1:V42V;CSQ_CADD_PHRED=9.730 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,143:143:1:65:-100:0.1734:21,48,13,25,10,26,21,48,13,25,10,26:100:100 +1 162724579 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=DDR2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/18;CSQ_INTRON=.;CSQ_Feature=NM_006182.4;CSQ_HGVSc=NM_006182.4:c.351G>A;CSQ_HGVSp=NP_006173.2:p.Met117Ile;CSQ_HGVSg=1:g.162724579G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63370313&COSV63370313;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.507;CSQ_Mastermind_MMID3=DDR2:M117I;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,8:177:0.0452:65:-100:0.0829:1,2,1,2,2,0,23,55,12,27,20,40:86.389:100 +1 162737116 . C G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=DDR2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/18;CSQ_INTRON=.;CSQ_Feature=NM_006182.4;CSQ_HGVSc=NM_006182.4:c.1260C>G;CSQ_HGVSp=NP_006173.2:p.Leu420%3D;CSQ_HGVSg=1:g.162737116C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259929;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome&Warburg-cinotti_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=7646;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.247347;CSQ_gnomADe_AC=55460;CSQ_gnomADe_AN=245960;CSQ_gnomADe_AF=0.225484;CSQ_gnomADe_Hom=8513;CSQ_COSMICcMuts=COSV63369342&COSV63369342;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DDR2:L420L;CSQ_CADD_PHRED=10.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,27:133:0.20301:65:-100:0.1739:4,10,2,5,2,4,23,49,13,15,15,18:100:100 +1 179077444 . TG T 100 PASS DP=145;CSQ_Allele=-;CSQ_SYMBOL=ABL2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001136000.3;CSQ_HGVSc=NM_001136000.3:c.2603del;CSQ_HGVSp=NP_001129472.1:p.Pro868HisfsTer4;CSQ_HGVSg=1:g.179077449del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434;CSQ_COSMICncMuts=COSV61011434;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0:2,1,2,3,1,1,31,40,18,21,10,25:98.817:100 +1 179077444 . TG T 100 PASS DP=145;CSQ_Allele=-;CSQ_SYMBOL=ABL2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001136001.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=1:g.179077449del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434;CSQ_COSMICncMuts=COSV61011434;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0:2,1,2,3,1,1,31,40,18,21,10,25:98.817:100 +1 179077444 . TG T 100 PASS DP=145;CSQ_Allele=-;CSQ_SYMBOL=ABL2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001168236.2;CSQ_HGVSc=NM_001168236.2:c.2894del;CSQ_HGVSp=NP_001161708.1:p.Pro965HisfsTer4;CSQ_HGVSg=1:g.179077449del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434;CSQ_COSMICncMuts=COSV61011434;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0:2,1,2,3,1,1,31,40,18,21,10,25:98.817:100 +1 179077444 . TG T 100 PASS DP=145;CSQ_Allele=-;CSQ_SYMBOL=ABL2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_007314.4;CSQ_HGVSc=NM_007314.4:c.2957del;CSQ_HGVSp=NP_009298.1:p.Pro986HisfsTer4;CSQ_HGVSg=1:g.179077449del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434&COSV61011434;CSQ_COSMICncMuts=COSV61011434;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0:2,1,2,3,1,1,31,40,18,21,10,25:98.817:100 +1 179084080 . T G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001136000.3;CSQ_HGVSc=NM_001136000.3:c.1449A>C;CSQ_HGVSp=NP_001129472.1:p.Leu483%3D;CSQ_HGVSg=1:g.179084080T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2473;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0798463;CSQ_gnomADe_AC=16657;CSQ_gnomADe_AN=244604;CSQ_gnomADe_AF=0.0680978;CSQ_gnomADe_Hom=897;CSQ_COSMICcMuts=COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927;CSQ_COSMICncMuts=COSV61014927&COSV61014927;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:L462L&ABL2:L477L&ABL2:L483L&ABL2:L498L;CSQ_CADD_PHRED=10.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,20:150:0.13333:65:-100:0.1279:3,6,1,5,2,3,22,49,7,29,16,27:100:100 +1 179084080 . T G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_001136001.2;CSQ_HGVSc=NM_001136001.2:c.1431A>C;CSQ_HGVSp=NP_001129473.1:p.Leu477%3D;CSQ_HGVSg=1:g.179084080T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2473;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0798463;CSQ_gnomADe_AC=16657;CSQ_gnomADe_AN=244604;CSQ_gnomADe_AF=0.0680978;CSQ_gnomADe_Hom=897;CSQ_COSMICcMuts=COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927;CSQ_COSMICncMuts=COSV61014927&COSV61014927;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:L462L&ABL2:L477L&ABL2:L483L&ABL2:L498L;CSQ_CADD_PHRED=10.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,20:150:0.13333:65:-100:0.1279:3,6,1,5,2,3,22,49,7,29,16,27:100:100 +1 179084080 . T G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_001168236.2;CSQ_HGVSc=NM_001168236.2:c.1431A>C;CSQ_HGVSp=NP_001161708.1:p.Leu477%3D;CSQ_HGVSg=1:g.179084080T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2473;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0798463;CSQ_gnomADe_AC=16657;CSQ_gnomADe_AN=244604;CSQ_gnomADe_AF=0.0680978;CSQ_gnomADe_Hom=897;CSQ_COSMICcMuts=COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927;CSQ_COSMICncMuts=COSV61014927&COSV61014927;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:L462L&ABL2:L477L&ABL2:L483L&ABL2:L498L;CSQ_CADD_PHRED=10.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,20:150:0.13333:65:-100:0.1279:3,6,1,5,2,3,22,49,7,29,16,27:100:100 +1 179084080 . T G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_007314.4;CSQ_HGVSc=NM_007314.4:c.1494A>C;CSQ_HGVSp=NP_009298.1:p.Leu498%3D;CSQ_HGVSg=1:g.179084080T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2473;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0798463;CSQ_gnomADe_AC=16657;CSQ_gnomADe_AN=244604;CSQ_gnomADe_AF=0.0680978;CSQ_gnomADe_Hom=897;CSQ_COSMICcMuts=COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927&COSV61014927;CSQ_COSMICncMuts=COSV61014927&COSV61014927;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:L462L&ABL2:L477L&ABL2:L483L&ABL2:L498L;CSQ_CADD_PHRED=10.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,20:150:0.13333:65:-100:0.1279:3,6,1,5,2,3,22,49,7,29,16,27:100:100 +1 179084092 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001136000.3;CSQ_HGVSc=NM_001136000.3:c.1437C>T;CSQ_HGVSp=NP_001129472.1:p.Val479%3D;CSQ_HGVSg=1:g.179084092G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440;CSQ_COSMICncMuts=COSV61012440&COSV61012440;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1345:1,5,0,3,0,0,26,52,7,25,15,23:100:100 +1 179084092 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_001136001.2;CSQ_HGVSc=NM_001136001.2:c.1419C>T;CSQ_HGVSp=NP_001129473.1:p.Val473%3D;CSQ_HGVSg=1:g.179084092G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440;CSQ_COSMICncMuts=COSV61012440&COSV61012440;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1345:1,5,0,3,0,0,26,52,7,25,15,23:100:100 +1 179084092 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_001168236.2;CSQ_HGVSc=NM_001168236.2:c.1419C>T;CSQ_HGVSp=NP_001161708.1:p.Val473%3D;CSQ_HGVSg=1:g.179084092G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440;CSQ_COSMICncMuts=COSV61012440&COSV61012440;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1345:1,5,0,3,0,0,26,52,7,25,15,23:100:100 +1 179084092 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_007314.4;CSQ_HGVSc=NM_007314.4:c.1482C>T;CSQ_HGVSp=NP_009298.1:p.Val494%3D;CSQ_HGVSg=1:g.179084092G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440&COSV61012440;CSQ_COSMICncMuts=COSV61012440&COSV61012440;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1345:1,5,0,3,0,0,26,52,7,25,15,23:100:100 +1 179089336 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/13;CSQ_INTRON=.;CSQ_Feature=NM_001136000.3;CSQ_HGVSc=NM_001136000.3:c.989T>C;CSQ_HGVSp=NP_001129472.1:p.Val330Ala;CSQ_HGVSg=1:g.179089336A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.786;CSQ_Mastermind_MMID3=ABL2:V309A&ABL2:V324A&ABL2:V330A&ABL2:V345A;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,9:117:0.07692:65:-100:0.0787:0,1,0,2,2,4,11,36,10,26,11,23:100:100 +1 179089336 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001136001.2;CSQ_HGVSc=NM_001136001.2:c.971T>C;CSQ_HGVSp=NP_001129473.1:p.Val324Ala;CSQ_HGVSg=1:g.179089336A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.786;CSQ_Mastermind_MMID3=ABL2:V309A&ABL2:V324A&ABL2:V330A&ABL2:V345A;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,9:117:0.07692:65:-100:0.0787:0,1,0,2,2,4,11,36,10,26,11,23:100:100 +1 179089336 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001168236.2;CSQ_HGVSc=NM_001168236.2:c.971T>C;CSQ_HGVSp=NP_001161708.1:p.Val324Ala;CSQ_HGVSg=1:g.179089336A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.786;CSQ_Mastermind_MMID3=ABL2:V309A&ABL2:V324A&ABL2:V330A&ABL2:V345A;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,9:117:0.07692:65:-100:0.0787:0,1,0,2,2,4,11,36,10,26,11,23:100:100 +1 179089336 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_007314.4;CSQ_HGVSc=NM_007314.4:c.1034T>C;CSQ_HGVSp=NP_009298.1:p.Val345Ala;CSQ_HGVSg=1:g.179089336A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711&COSV61014711;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.786;CSQ_Mastermind_MMID3=ABL2:V309A&ABL2:V324A&ABL2:V330A&ABL2:V345A;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,9:117:0.07692:65:-100:0.0787:0,1,0,2,2,4,11,36,10,26,11,23:100:100 +1 179090751 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/13;CSQ_INTRON=.;CSQ_Feature=NM_001136000.3;CSQ_HGVSc=NM_001136000.3:c.894A>G;CSQ_HGVSp=NP_001129472.1:p.Thr298%3D;CSQ_HGVSg=1:g.179090751T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=500;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0161405;CSQ_gnomADe_AC=1163;CSQ_gnomADe_AN=245930;CSQ_gnomADe_AF=0.00472899;CSQ_gnomADe_Hom=24;CSQ_COSMICcMuts=COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:T277T&ABL2:T292T&ABL2:T298T&ABL2:T313T;CSQ_CADD_PHRED=6.116 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,9:132:0.06818:65:-100:0.1646:2,4,0,0,2,1,22,54,12,14,9,21:100:100 +1 179090751 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001136001.2;CSQ_HGVSc=NM_001136001.2:c.876A>G;CSQ_HGVSp=NP_001129473.1:p.Thr292%3D;CSQ_HGVSg=1:g.179090751T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=500;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0161405;CSQ_gnomADe_AC=1163;CSQ_gnomADe_AN=245930;CSQ_gnomADe_AF=0.00472899;CSQ_gnomADe_Hom=24;CSQ_COSMICcMuts=COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:T277T&ABL2:T292T&ABL2:T298T&ABL2:T313T;CSQ_CADD_PHRED=6.116 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,9:132:0.06818:65:-100:0.1646:2,4,0,0,2,1,22,54,12,14,9,21:100:100 +1 179090751 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_001168236.2;CSQ_HGVSc=NM_001168236.2:c.876A>G;CSQ_HGVSp=NP_001161708.1:p.Thr292%3D;CSQ_HGVSg=1:g.179090751T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=500;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0161405;CSQ_gnomADe_AC=1163;CSQ_gnomADe_AN=245930;CSQ_gnomADe_AF=0.00472899;CSQ_gnomADe_Hom=24;CSQ_COSMICcMuts=COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:T277T&ABL2:T292T&ABL2:T298T&ABL2:T313T;CSQ_CADD_PHRED=6.116 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,9:132:0.06818:65:-100:0.1646:2,4,0,0,2,1,22,54,12,14,9,21:100:100 +1 179090751 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/12;CSQ_INTRON=.;CSQ_Feature=NM_007314.4;CSQ_HGVSc=NM_007314.4:c.939A>G;CSQ_HGVSp=NP_009298.1:p.Thr313%3D;CSQ_HGVSg=1:g.179090751T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=500;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0161405;CSQ_gnomADe_AC=1163;CSQ_gnomADe_AN=245930;CSQ_gnomADe_AF=0.00472899;CSQ_gnomADe_Hom=24;CSQ_COSMICcMuts=COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014&COSV61012014;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:T277T&ABL2:T292T&ABL2:T298T&ABL2:T313T;CSQ_CADD_PHRED=6.116 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,9:132:0.06818:65:-100:0.1646:2,4,0,0,2,1,22,54,12,14,9,21:100:100 +1 179095548 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/13;CSQ_INTRON=.;CSQ_Feature=NM_001136000.3;CSQ_HGVSc=NM_001136000.3:c.606G>A;CSQ_HGVSp=NP_001129472.1:p.Val202%3D;CSQ_HGVSg=1:g.179095548C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=150;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00484246;CSQ_gnomADe_AC=3930;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.0159659;CSQ_gnomADe_Hom=106;CSQ_COSMICcMuts=COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112;CSQ_COSMICncMuts=COSV61015112;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,6:127:0.04724:65:-96.7521:0.1477:2,0,2,0,0,2,19,54,11,20,8,15:70.648:100 +1 179095548 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001136001.2;CSQ_HGVSc=NM_001136001.2:c.588G>A;CSQ_HGVSp=NP_001129473.1:p.Val196%3D;CSQ_HGVSg=1:g.179095548C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=150;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00484246;CSQ_gnomADe_AC=3930;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.0159659;CSQ_gnomADe_Hom=106;CSQ_COSMICcMuts=COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112;CSQ_COSMICncMuts=COSV61015112;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,6:127:0.04724:65:-96.7521:0.1477:2,0,2,0,0,2,19,54,11,20,8,15:70.648:100 +1 179095548 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_001168236.2;CSQ_HGVSc=NM_001168236.2:c.588G>A;CSQ_HGVSp=NP_001161708.1:p.Val196%3D;CSQ_HGVSg=1:g.179095548C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=150;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00484246;CSQ_gnomADe_AC=3930;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.0159659;CSQ_gnomADe_Hom=106;CSQ_COSMICcMuts=COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112;CSQ_COSMICncMuts=COSV61015112;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,6:127:0.04724:65:-96.7521:0.1477:2,0,2,0,0,2,19,54,11,20,8,15:70.648:100 +1 179095548 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ABL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_007314.4;CSQ_HGVSc=NM_007314.4:c.651G>A;CSQ_HGVSp=NP_009298.1:p.Val217%3D;CSQ_HGVSg=1:g.179095548C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=150;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00484246;CSQ_gnomADe_AC=3930;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.0159659;CSQ_gnomADe_Hom=106;CSQ_COSMICcMuts=COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112&COSV61015112;CSQ_COSMICncMuts=COSV61015112;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,6:127:0.04724:65:-96.7521:0.1477:2,0,2,0,0,2,19,54,11,20,8,15:70.648:100 +1 179112145 . C G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001136000.3;CSQ_HGVSc=NM_001136000.3:c.35G>C;CSQ_HGVSp=NP_001129472.1:p.Ser12Thr;CSQ_HGVSg=1:g.179112145C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2587;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0835432;CSQ_gnomADe_AC=17655;CSQ_gnomADe_AN=246156;CSQ_gnomADe_AF=0.0717228;CSQ_gnomADe_Hom=736;CSQ_COSMICcMuts=COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.092;CSQ_Mastermind_MMID3=ABL2:D53int&ABL2:D53inta&ABL2:E53int&ABL2:E53inta&ABL2:S12T;CSQ_CADD_PHRED=11.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1181:3,4,1,2,0,0,18,36,10,27,11,25:100:100 +1 179112145 . C G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/9;CSQ_Feature=NM_001136001.2;CSQ_HGVSc=NM_001136001.2:c.158-11529G>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.179112145C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2587;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0835432;CSQ_gnomADe_AC=17655;CSQ_gnomADe_AN=246156;CSQ_gnomADe_AF=0.0717228;CSQ_gnomADe_Hom=736;CSQ_COSMICcMuts=COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:D53int&ABL2:D53inta&ABL2:E53int&ABL2:E53inta&ABL2:S12T;CSQ_CADD_PHRED=11.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1181:3,4,1,2,0,0,18,36,10,27,11,25:100:100 +1 179112145 . C G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001168236.2;CSQ_HGVSc=NM_001168236.2:c.158-11529G>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.179112145C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2587;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0835432;CSQ_gnomADe_AC=17655;CSQ_gnomADe_AN=246156;CSQ_gnomADe_AF=0.0717228;CSQ_gnomADe_Hom=736;CSQ_COSMICcMuts=COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:D53int&ABL2:D53inta&ABL2:E53int&ABL2:E53inta&ABL2:S12T;CSQ_CADD_PHRED=11.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1181:3,4,1,2,0,0,18,36,10,27,11,25:100:100 +1 179112145 . C G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=ABL2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_007314.4;CSQ_HGVSc=NM_007314.4:c.158-9636G>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.179112145C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2587;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0835432;CSQ_gnomADe_AC=17655;CSQ_gnomADe_AN=246156;CSQ_gnomADe_AF=0.0717228;CSQ_gnomADe_Hom=736;CSQ_COSMICcMuts=COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512&COSV61011512;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL2:D53int&ABL2:D53inta&ABL2:E53int&ABL2:E53inta&ABL2:S12T;CSQ_CADD_PHRED=11.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1181:3,4,1,2,0,0,18,36,10,27,11,25:100:100 +1 193202153 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=CDC73;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/17;CSQ_INTRON=.;CSQ_Feature=NM_024529.5;CSQ_HGVSc=NM_024529.5:c.1185A>G;CSQ_HGVSp=NP_078805.3:p.Gln395%3D;CSQ_HGVSg=1:g.193202153A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=241491;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Parathyroid_carcinoma&Hyperparathyroidism_1&Hyperparathyroidism_2_with_jaw_tumors&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=155;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.00500355;CSQ_gnomADe_AC=275;CSQ_gnomADe_AN=246058;CSQ_gnomADe_AF=0.00111762;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.19;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDC73:Q395Q;CSQ_CADD_PHRED=12.10 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,10:112:0.08929:65:-100:0.2:1,5,1,2,0,1,22,39,11,13,5,22:100:100 +1 204396830 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=33/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.4533C>T;CSQ_HGVSp=NP_002637.3:p.Ser1511%3D;CSQ_HGVSg=1:g.204396830G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4750;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.153543;CSQ_gnomADe_AC=25871;CSQ_gnomADe_AN=246234;CSQ_gnomADe_AF=0.105067;CSQ_gnomADe_Hom=1755;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:S1483S&PIK3C2B:S1511S;CSQ_CADD_PHRED=4.971 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,10:165:0.06061:65:-100:0.1361:2,5,0,2,1,0,29,63,9,23,11,30:87.328:100 +1 204396867 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=33/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.4496G>A;CSQ_HGVSp=NP_002637.3:p.Arg1499Gln;CSQ_HGVSg=1:g.204396867C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.000645619;CSQ_gnomADe_AC=51;CSQ_gnomADe_AN=246262;CSQ_gnomADe_AF=0.000207097;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.084;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.71 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,15:163:0.09202:65:-100:0.1283:4,3,0,2,2,4,27,63,12,19,15,27:100:100 +1 204399061 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.4386T>C;CSQ_HGVSp=NP_002637.3:p.Pro1462%3D;CSQ_HGVSg=1:g.204399061A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4714;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.152794;CSQ_gnomADe_AC=25530;CSQ_gnomADe_AN=244618;CSQ_gnomADe_AF=0.104367;CSQ_gnomADe_Hom=1688;CSQ_COSMICcMuts=COSV65810639&COSV65810639;CSQ_COSMICncMuts=COSV65810639;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:P1434P&PIK3C2B:P1462P;CSQ_CADD_PHRED=1.419 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,18:149:0.12081:65:-100:0.1287:3,3,4,4,3,1,24,56,13,20,18,18:100:100 +1 204399064 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.4383C>T;CSQ_HGVSp=NP_002637.3:p.Pro1461%3D;CSQ_HGVSg=1:g.204399064G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4717;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.152782;CSQ_gnomADe_AC=25552;CSQ_gnomADe_AN=244798;CSQ_gnomADe_AF=0.10438;CSQ_gnomADe_Hom=1689;CSQ_COSMICcMuts=COSV65809236&COSV65809236;CSQ_COSMICncMuts=COSV65809236;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:P1433P&PIK3C2B:P1461P;CSQ_CADD_PHRED=11.28 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,17:150:0.11333:65:-100:0.1124:3,3,3,4,3,1,26,53,14,19,18,20:100:100 +1 204401488 . T A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=29/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.3995A>T;CSQ_HGVSp=NP_002637.3:p.Asn1332Ile;CSQ_HGVSg=1:g.204401488T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65813713&COSV65813713;CSQ_COSMICncMuts=COSV65813713;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.17;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=0.723;CSQ_Mastermind_MMID3=PIK3C2B:N1332I;CSQ_CADD_PHRED=27.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,6:129:0.04651:65:-95.3941:0.2086:1,1,1,1,0,2,19,67,3,17,4,19:80.477:100 +1 204402500 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=28/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.3897G>A;CSQ_HGVSp=NP_002637.3:p.Val1299%3D;CSQ_HGVSg=1:g.204402500C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=907;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0292997;CSQ_gnomADe_AC=6526;CSQ_gnomADe_AN=246122;CSQ_gnomADe_AF=0.0265153;CSQ_gnomADe_Hom=263;CSQ_COSMICcMuts=COSV65809381&COSV65809381;CSQ_COSMICncMuts=COSV65809381;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.26;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:V1271V&PIK3C2B:V1299V;CSQ_CADD_PHRED=10.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,15:151:0.09934:65:-100:0.1517:1,8,2,2,0,2,23,56,13,29,13,17:100:100 +1 204403659 . A G 100 PASS DP=172;CSQ_Allele=G;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=26/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.3594T>C;CSQ_HGVSp=NP_002637.3:p.Asn1198%3D;CSQ_HGVSg=1:g.204403659A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10613;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.343085;CSQ_gnomADe_AC=72598;CSQ_gnomADe_AN=245582;CSQ_gnomADe_AF=0.295616;CSQ_gnomADe_Hom=11980;CSQ_COSMICcMuts=COSV65811498&COSV65811498;CSQ_COSMICncMuts=COSV65811498;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:N1170N&PIK3C2B:N1198N;CSQ_CADD_PHRED=6.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,44:172:0.25581:65:-100:0.1042:9,16,3,8,3,5,30,61,16,29,13,23:100:100 +1 204408135 . G A 100 PASS DP=178;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.3444C>T;CSQ_HGVSp=NP_002637.3:p.Thr1148%3D;CSQ_HGVSg=1:g.204408135G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=954;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0308259;CSQ_gnomADe_AC=6669;CSQ_gnomADe_AN=245914;CSQ_gnomADe_AF=0.0271192;CSQ_gnomADe_Hom=269;CSQ_COSMICcMuts=COSV65809391&COSV65809391;CSQ_COSMICncMuts=COSV65809391;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:T1120T&PIK3C2B:T1148T;CSQ_CADD_PHRED=7.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,16:178:0.08989:65:-100:0.1359:1,6,4,2,2,1,31,61,21,28,9,28:100:100 +1 204418364 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.2295C>T;CSQ_HGVSp=NP_002637.3:p.Ser765%3D;CSQ_HGVSg=1:g.204418364G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=494;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0159643;CSQ_gnomADe_AC=4081;CSQ_gnomADe_AN=244060;CSQ_gnomADe_AF=0.0167213;CSQ_gnomADe_Hom=162;CSQ_COSMICcMuts=COSV65809406&COSV65809406;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:S765S;CSQ_CADD_PHRED=9.482 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,10:168:0.05952:65:-100:0.1429:1,7,0,2,0,0,36,65,7,24,18,18:100:100 +1 204425028 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.1899C>T;CSQ_HGVSp=NP_002637.3:p.Phe633%3D;CSQ_HGVSg=1:g.204425028G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5237;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.169471;CSQ_gnomADe_AC=46014;CSQ_gnomADe_AN=245238;CSQ_gnomADe_AF=0.18763;CSQ_gnomADe_Hom=5386;CSQ_COSMICcMuts=COSV65808813&COSV65808813;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.04;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:F633F;CSQ_CADD_PHRED=11.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,23:151:0.15232:65:-100:0.1838:1,9,1,6,1,5,18,54,11,33,11,24:100:100 +1 204429493 . G A 100 PASS DP=175;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.1461C>T;CSQ_HGVSp=NP_002637.3:p.Leu487%3D;CSQ_HGVSg=1:g.204429493G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.000420331;CSQ_gnomADe_AC=43;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.000174646;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,15:175:0.08571:65:-100:0.1071:2,6,1,3,0,3,24,64,11,28,17,31:100:100 +1 204438076 . G C 100 PASS DP=177;CSQ_Allele=C;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.855C>G;CSQ_HGVSp=NP_002637.3:p.Pro285%3D;CSQ_HGVSg=1:g.204438076G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000387622;CSQ_gnomADe_AC=69;CSQ_gnomADe_AN=246054;CSQ_gnomADe_AF=0.000280426;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.619 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,8:177:0.0452:65:-100:0.1324:1,4,1,2,0,0,31,72,11,23,13,27:82.329:100 +1 204438334 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.597G>A;CSQ_HGVSp=NP_002637.3:p.Pro199%3D;CSQ_HGVSg=1:g.204438334C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24366;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.78783;CSQ_gnomADe_AC=219355;CSQ_gnomADe_AN=243704;CSQ_gnomADe_AF=0.900088;CSQ_gnomADe_Hom=101843;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:P199P;CSQ_CADD_PHRED=0.049 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,122:146:0.83562:65:-100:0.131:17,55,3,20,8,19,20,62,5,25,11,23:100:100 +1 204438643 . G T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/35;CSQ_INTRON=.;CSQ_Feature=NM_002646.4;CSQ_HGVSc=NM_002646.4:c.288C>A;CSQ_HGVSp=NP_002637.3:p.Leu96%3D;CSQ_HGVSg=1:g.204438643G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24281;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.786913;CSQ_gnomADe_AC=214381;CSQ_gnomADe_AN=238634;CSQ_gnomADe_AF=0.898367;CSQ_gnomADe_Hom=99428;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2B:L96L;CSQ_CADD_PHRED=9.522 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,149:183:0.81421:65:-100:0.183:19,55,8,32,8,27,22,66,12,38,13,32:100:100 +1 204485572 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=MDM4;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/10;CSQ_INTRON=.;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.-101T>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204485572T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=288;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.00931195;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:5UTR;CSQ_CADD_PHRED=8.747 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,8:118:0.0678:65:-100:0.1511:4,1,1,1,1,0,21,46,11,17,9,14:100:100 +1 204485572 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=MDM4;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/11;CSQ_INTRON=.;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.-101T>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204485572T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=288;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.00931195;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:5UTR;CSQ_CADD_PHRED=8.747 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,8:118:0.0678:65:-100:0.1511:4,1,1,1,1,0,21,46,11,17,9,14:100:100 +1 204490311 . A T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/9;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.-35-4301A>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204490311A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=307;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00991346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:5UTR&MDM4:5UTRint&MDM4:5UTRinta;CSQ_CADD_PHRED=2.226 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,6:145:0.04138:65:-97.3038:0.1159:1,4,0,0,1,0,20,54,7,29,11,24:84.267:100 +1 204490311 . A T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.-35-4301A>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204490311A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=307;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00991346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:5UTR&MDM4:5UTRint&MDM4:5UTRinta;CSQ_CADD_PHRED=2.226 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,6:145:0.04138:65:-97.3038:0.1159:1,4,0,0,1,0,20,54,7,29,11,24:84.267:100 +1 204494283 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/9;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.-35-329C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204494283C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11990;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.388328;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:5UTR&MDM4:5UTRint&MDM4:5UTRinta;CSQ_CADD_PHRED=8.101 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,19:99:0.19192:65:-100:0.175:4,8,1,1,2,3,15,40,6,16,8,14:100:100 +1 204494283 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.-35-329C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204494283C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11990;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.388328;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:5UTR&MDM4:5UTRint&MDM4:5UTRinta;CSQ_CADD_PHRED=8.101 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,19:99:0.19192:65:-100:0.175:4,8,1,1,2,3,15,40,6,16,8,14:100:100 +1 204499880 . A T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.222A>T;CSQ_HGVSp=NP_001191100.1:p.Val74%3D;CSQ_HGVSg=1:g.204499880A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=774283;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=281;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00907505;CSQ_gnomADe_AC=1672;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0.00678979;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=COSV65798272&COSV65798272&COSV65798272&COSV65798272&COSV65798272&COSV65798272;CSQ_COSMICncMuts=COSV65798272;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:E51int&MDM4:E51intd&MDM4:Q26int&MDM4:Q26intd&MDM4:V74V;CSQ_CADD_PHRED=4.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,11:156:0.07051:65:-100:0.1236:1,5,0,1,1,3,29,53,7,27,16,24:100:100 +1 204499880 . A T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.222A>T;CSQ_HGVSp=NP_002384.2:p.Val74%3D;CSQ_HGVSg=1:g.204499880A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=774283;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=281;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00907505;CSQ_gnomADe_AC=1672;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0.00678979;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=COSV65798272&COSV65798272&COSV65798272&COSV65798272&COSV65798272&COSV65798272;CSQ_COSMICncMuts=COSV65798272;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:E51int&MDM4:E51intd&MDM4:Q26int&MDM4:Q26intd&MDM4:V74V;CSQ_CADD_PHRED=4.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,11:156:0.07051:65:-100:0.1236:1,5,0,1,1,3,29,53,7,27,16,24:100:100 +1 204511602 . C A 100 PASS DP=111;CSQ_Allele=A;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.512-310C>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204511602C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19950;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.647265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:3UTR&MDM4:3UTRint&MDM4:3UTRinta&MDM4:D171int&MDM4:D171inta&MDM4:D73int&MDM4:D73inta&MDM4:E51int&MDM4:E51inta&MDM4:G115int&MDM4:G115inta&MDM4:Q26int&MDM4:Q26inta;CSQ_CADD_PHRED=3.501 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,64:111:0.57658:65:-100:0.2449:15,15,10,5,15,4,25,25,16,16,20,9:100:100 +1 204511602 . C A 100 PASS DP=111;CSQ_Allele=A;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/10;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.512-310C>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204511602C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19950;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.647265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:3UTR&MDM4:3UTRint&MDM4:3UTRinta&MDM4:D171int&MDM4:D171inta&MDM4:D73int&MDM4:D73inta&MDM4:E51int&MDM4:E51inta&MDM4:G115int&MDM4:G115inta&MDM4:Q26int&MDM4:Q26inta;CSQ_CADD_PHRED=3.501 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,64:111:0.57658:65:-100:0.2449:15,15,10,5,15,4,25,25,16,16,20,9:100:100 +1 204511704 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.512-208T>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204511704T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3057;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0988936;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:3UTR&MDM4:3UTRint&MDM4:3UTRinta&MDM4:D171int&MDM4:D171inta&MDM4:D73int&MDM4:D73inta&MDM4:E51int&MDM4:E51inta&MDM4:G115int&MDM4:G115inta&MDM4:Q26int&MDM4:Q26inta;CSQ_CADD_PHRED=3.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,14:108:0.12963:65:-100:0.1692:2,5,2,2,2,1,15,42,10,16,15,10:100:100 +1 204511704 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/10;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.512-208T>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204511704T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3057;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0988936;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:3UTR&MDM4:3UTRint&MDM4:3UTRinta&MDM4:D171int&MDM4:D171inta&MDM4:D73int&MDM4:D73inta&MDM4:E51int&MDM4:E51inta&MDM4:G115int&MDM4:G115inta&MDM4:Q26int&MDM4:Q26inta;CSQ_CADD_PHRED=3.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,14:108:0.12963:65:-100:0.1692:2,5,2,2,2,1,15,42,10,16,15,10:100:100 +1 204512798 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/9;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.672+726C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204512798C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=886;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0286065;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:3UTR&MDM4:3UTRint&MDM4:3UTRintd&MDM4:E51int&MDM4:E51inta&MDM4:G115int&MDM4:G115inta&MDM4:Q126int&MDM4:Q126intd&MDM4:Q224int&MDM4:Q224intd&MDM4:Q26int&MDM4:Q26inta;CSQ_CADD_PHRED=4.246 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,20:116:0.17241:65:-100:0.1888:2,7,2,1,1,7,13,43,10,21,10,19:100:100 +1 204512798 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/10;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.672+726C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204512798C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=886;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0286065;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:3UTR&MDM4:3UTRint&MDM4:3UTRintd&MDM4:E51int&MDM4:E51inta&MDM4:G115int&MDM4:G115inta&MDM4:Q126int&MDM4:Q126intd&MDM4:Q224int&MDM4:Q224intd&MDM4:Q26int&MDM4:Q26inta;CSQ_CADD_PHRED=4.246 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,20:116:0.17241:65:-100:0.1888:2,7,2,1,1,7,13,43,10,21,10,19:100:100 +1 204513256 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/9;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.672+1184A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204513256A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18919;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.612147;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:3UTR&MDM4:3UTRint&MDM4:3UTRinta&MDM4:E51int&MDM4:E51inta&MDM4:G115int&MDM4:G115inta&MDM4:Q126int&MDM4:Q126inta&MDM4:Q224int&MDM4:Q224inta&MDM4:Q224intd&MDM4:Q26int&MDM4:Q26inta;CSQ_CADD_PHRED=7.355 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,46:140:0.32857:65:-100:0.125:9,19,2,9,3,4,23,55,10,26,5,21:100:100 +1 204513256 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=MDM4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/10;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.673-407A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204513256A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18919;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.612147;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM4:3UTR&MDM4:3UTRint&MDM4:3UTRinta&MDM4:E51int&MDM4:E51inta&MDM4:G115int&MDM4:G115inta&MDM4:Q126int&MDM4:Q126inta&MDM4:Q224int&MDM4:Q224inta&MDM4:Q224intd&MDM4:Q26int&MDM4:Q26inta;CSQ_CADD_PHRED=7.355 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,46:140:0.32857:65:-100:0.125:9,19,2,9,3,4,23,55,10,26,5,21:100:100 +1 204515938 . GA G 100 PASS DP=130;CSQ_Allele=-;CSQ_SYMBOL=MDM4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.692del;CSQ_HGVSp=NP_001191100.1:p.Asn231MetfsTer10;CSQ_HGVSg=1:g.204515944del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65795349&COSV65795349&COSV65795349&COSV65795349&COSV65795349;CSQ_COSMICncMuts=COSV65795349&COSV65795349;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,6:130:0.04615:65:-95.7439:0:2,0,0,1,1,2,31,35,9,25,11,19:62.76:100 +1 204515938 . GA G 100 PASS DP=130;CSQ_Allele=-;CSQ_SYMBOL=MDM4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.842del;CSQ_HGVSp=NP_002384.2:p.Asn281MetfsTer10;CSQ_HGVSg=1:g.204515944del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65795349&COSV65795349&COSV65795349&COSV65795349&COSV65795349;CSQ_COSMICncMuts=COSV65795349&COSV65795349;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,6:130:0.04615:65:-95.7439:0:2,0,0,1,1,2,31,35,9,25,11,19:62.76:100 +1 204526255 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001204171.2;CSQ_HGVSc=NM_001204171.2:c.*7445C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204526255C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=37;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00119501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.743 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,10:161:0.06211:65:-100:0.1344:0,3,0,4,1,2,18,43,14,34,23,29:100:100 +1 204526255 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=MDM4;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_002393.5;CSQ_HGVSc=NM_002393.5:c.*7445C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.204526255C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=37;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00119501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.743 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,10:161:0.06211:65:-100:0.1344:0,3,0,4,1,2,18,43,14,34,23,29:100:100 +1 206647742 . A G 100 PASS DP=170;CSQ_Allele=G;CSQ_SYMBOL=IKBKE;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/21;CSQ_INTRON=.;CSQ_Feature=NM_001193321.2;CSQ_HGVSc=NM_001193321.2:c.-100A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.206647742A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30927;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.998483;CSQ_gnomADe_AC=245858;CSQ_gnomADe_AN=246210;CSQ_gnomADe_AF=0.99857;CSQ_gnomADe_Hom=122756;CSQ_COSMICcMuts=COSV65626479&COSV65626479;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.27;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,170:170:1:65:-100:0.1327:27,61,11,29,11,31,27,61,11,29,11,31:100:100 +1 206647742 . A G 100 PASS DP=170;CSQ_Allele=G;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/21;CSQ_INTRON=.;CSQ_Feature=NM_001193322.2;CSQ_HGVSc=NM_001193322.2:c.156A>G;CSQ_HGVSp=NP_001180251.1:p.Gln52%3D;CSQ_HGVSg=1:g.206647742A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30927;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.998483;CSQ_gnomADe_AC=245858;CSQ_gnomADe_AN=246210;CSQ_gnomADe_AF=0.99857;CSQ_gnomADe_Hom=122756;CSQ_COSMICcMuts=COSV65626479&COSV65626479;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.27;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,170:170:1:65:-100:0.1327:27,61,11,29,11,31,27,61,11,29,11,31:100:100 +1 206647742 . A G 100 PASS DP=170;CSQ_Allele=G;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/22;CSQ_INTRON=.;CSQ_Feature=NM_014002.4;CSQ_HGVSc=NM_014002.4:c.156A>G;CSQ_HGVSp=NP_054721.1:p.Gln52%3D;CSQ_HGVSg=1:g.206647742A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30927;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.998483;CSQ_gnomADe_AC=245858;CSQ_gnomADe_AN=246210;CSQ_gnomADe_AF=0.99857;CSQ_gnomADe_Hom=122756;CSQ_COSMICcMuts=COSV65626479&COSV65626479;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.27;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,170:170:1:65:-100:0.1327:27,61,11,29,11,31,27,61,11,29,11,31:100:100 +1 206647787 . T C 100 PASS DP=170;CSQ_Allele=C;CSQ_SYMBOL=IKBKE;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/21;CSQ_INTRON=.;CSQ_Feature=NM_001193321.2;CSQ_HGVSc=NM_001193321.2:c.-55T>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.206647787T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26375;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.852511;CSQ_gnomADe_AC=211495;CSQ_gnomADe_AN=245630;CSQ_gnomADe_AF=0.861031;CSQ_gnomADe_Hom=91382;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.402 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,153:170:0.9:65:-100:0.1192:30,52,9,23,11,28,33,55,9,27,14,32:100:100 +1 206647787 . T C 100 PASS DP=170;CSQ_Allele=C;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/21;CSQ_INTRON=.;CSQ_Feature=NM_001193322.2;CSQ_HGVSc=NM_001193322.2:c.201T>C;CSQ_HGVSp=NP_001180251.1:p.Ile67%3D;CSQ_HGVSg=1:g.206647787T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26375;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.852511;CSQ_gnomADe_AC=211495;CSQ_gnomADe_AN=245630;CSQ_gnomADe_AF=0.861031;CSQ_gnomADe_Hom=91382;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKBKE:5UTR&IKBKE:I67I;CSQ_CADD_PHRED=8.402 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,153:170:0.9:65:-100:0.1192:30,52,9,23,11,28,33,55,9,27,14,32:100:100 +1 206647787 . T C 100 PASS DP=170;CSQ_Allele=C;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/22;CSQ_INTRON=.;CSQ_Feature=NM_014002.4;CSQ_HGVSc=NM_014002.4:c.201T>C;CSQ_HGVSp=NP_054721.1:p.Ile67%3D;CSQ_HGVSg=1:g.206647787T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26375;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.852511;CSQ_gnomADe_AC=211495;CSQ_gnomADe_AN=245630;CSQ_gnomADe_AF=0.861031;CSQ_gnomADe_Hom=91382;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKBKE:5UTR&IKBKE:I67I;CSQ_CADD_PHRED=8.402 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,153:170:0.9:65:-100:0.1192:30,52,9,23,11,28,33,55,9,27,14,32:100:100 +1 206649681 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/21;CSQ_INTRON=.;CSQ_Feature=NM_001193321.2;CSQ_HGVSc=NM_001193321.2:c.261G>A;CSQ_HGVSp=NP_001180250.1:p.Ser87%3D;CSQ_HGVSg=1:g.206649681G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=721003;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=120;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.00388249;CSQ_gnomADe_AC=249;CSQ_gnomADe_AN=245220;CSQ_gnomADe_AF=0.00101541;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV65625429&COSV65625429;CSQ_COSMICncMuts=COSV65625429&COSV65625429;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.009 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,22:177:0.12429:65:-100:0.115:2,11,2,7,0,0,23,68,13,30,14,29:100:100 +1 206649681 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/21;CSQ_INTRON=.;CSQ_Feature=NM_001193322.2;CSQ_HGVSc=NM_001193322.2:c.516G>A;CSQ_HGVSp=NP_001180251.1:p.Ser172%3D;CSQ_HGVSg=1:g.206649681G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=721003;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=120;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.00388249;CSQ_gnomADe_AC=249;CSQ_gnomADe_AN=245220;CSQ_gnomADe_AF=0.00101541;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV65625429&COSV65625429;CSQ_COSMICncMuts=COSV65625429&COSV65625429;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.009 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,22:177:0.12429:65:-100:0.115:2,11,2,7,0,0,23,68,13,30,14,29:100:100 +1 206649681 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/22;CSQ_INTRON=.;CSQ_Feature=NM_014002.4;CSQ_HGVSc=NM_014002.4:c.516G>A;CSQ_HGVSp=NP_054721.1:p.Ser172%3D;CSQ_HGVSg=1:g.206649681G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=721003;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=120;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.00388249;CSQ_gnomADe_AC=249;CSQ_gnomADe_AN=245220;CSQ_gnomADe_AF=0.00101541;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV65625429&COSV65625429;CSQ_COSMICncMuts=COSV65625429&COSV65625429;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.009 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,22:177:0.12429:65:-100:0.115:2,11,2,7,0,0,23,68,13,30,14,29:100:100 +1 206651107 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_001193321.2;CSQ_HGVSc=NM_001193321.2:c.462G>A;CSQ_HGVSp=NP_001180250.1:p.Thr154%3D;CSQ_HGVSg=1:g.206651107G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7173;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.232377;CSQ_gnomADe_AC=44421;CSQ_gnomADe_AN=166656;CSQ_gnomADe_AF=0.266543;CSQ_gnomADe_Hom=7109;CSQ_COSMICcMuts=COSV65624190&COSV65624190;CSQ_COSMICncMuts=COSV65624190&COSV65624190;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKBKE:T154T&IKBKE:T239T;CSQ_CADD_PHRED=0.037 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0.1317:1,3,1,3,1,1,21,58,8,24,13,21:100:100 +1 206651107 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/21;CSQ_INTRON=.;CSQ_Feature=NM_001193322.2;CSQ_HGVSc=NM_001193322.2:c.717G>A;CSQ_HGVSp=NP_001180251.1:p.Thr239%3D;CSQ_HGVSg=1:g.206651107G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7173;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.232377;CSQ_gnomADe_AC=44421;CSQ_gnomADe_AN=166656;CSQ_gnomADe_AF=0.266543;CSQ_gnomADe_Hom=7109;CSQ_COSMICcMuts=COSV65624190&COSV65624190;CSQ_COSMICncMuts=COSV65624190&COSV65624190;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKBKE:T154T&IKBKE:T239T;CSQ_CADD_PHRED=0.037 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0.1317:1,3,1,3,1,1,21,58,8,24,13,21:100:100 +1 206651107 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/22;CSQ_INTRON=.;CSQ_Feature=NM_014002.4;CSQ_HGVSc=NM_014002.4:c.717G>A;CSQ_HGVSp=NP_054721.1:p.Thr239%3D;CSQ_HGVSg=1:g.206651107G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7173;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.232377;CSQ_gnomADe_AC=44421;CSQ_gnomADe_AN=166656;CSQ_gnomADe_AF=0.266543;CSQ_gnomADe_Hom=7109;CSQ_COSMICcMuts=COSV65624190&COSV65624190;CSQ_COSMICncMuts=COSV65624190&COSV65624190;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKBKE:T154T&IKBKE:T239T;CSQ_CADD_PHRED=0.037 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0.1317:1,3,1,3,1,1,21,58,8,24,13,21:100:100 +1 206651143 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_001193321.2;CSQ_HGVSc=NM_001193321.2:c.498G>A;CSQ_HGVSp=NP_001180250.1:p.Arg166%3D;CSQ_HGVSg=1:g.206651143G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=593;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0191698;CSQ_gnomADe_AC=3330;CSQ_gnomADe_AN=165818;CSQ_gnomADe_AF=0.0200823;CSQ_gnomADe_Hom=49;CSQ_COSMICcMuts=COSV65626718&COSV65626718;CSQ_COSMICncMuts=COSV65626718&COSV65626718;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKBKE:R166R&IKBKE:R251R;CSQ_CADD_PHRED=7.460 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,9:159:0.0566:65:-100:0.1632:1,4,2,2,0,0,27,58,11,31,9,23:100:100 +1 206651143 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/21;CSQ_INTRON=.;CSQ_Feature=NM_001193322.2;CSQ_HGVSc=NM_001193322.2:c.753G>A;CSQ_HGVSp=NP_001180251.1:p.Arg251%3D;CSQ_HGVSg=1:g.206651143G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=593;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0191698;CSQ_gnomADe_AC=3330;CSQ_gnomADe_AN=165818;CSQ_gnomADe_AF=0.0200823;CSQ_gnomADe_Hom=49;CSQ_COSMICcMuts=COSV65626718&COSV65626718;CSQ_COSMICncMuts=COSV65626718&COSV65626718;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKBKE:R166R&IKBKE:R251R;CSQ_CADD_PHRED=7.460 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,9:159:0.0566:65:-100:0.1632:1,4,2,2,0,0,27,58,11,31,9,23:100:100 +1 206651143 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=IKBKE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/22;CSQ_INTRON=.;CSQ_Feature=NM_014002.4;CSQ_HGVSc=NM_014002.4:c.753G>A;CSQ_HGVSp=NP_054721.1:p.Arg251%3D;CSQ_HGVSg=1:g.206651143G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=593;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0191698;CSQ_gnomADe_AC=3330;CSQ_gnomADe_AN=165818;CSQ_gnomADe_AF=0.0200823;CSQ_gnomADe_Hom=49;CSQ_COSMICcMuts=COSV65626718&COSV65626718;CSQ_COSMICncMuts=COSV65626718&COSV65626718;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKBKE:R166R&IKBKE:R251R;CSQ_CADD_PHRED=7.460 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,9:159:0.0566:65:-100:0.1632:1,4,2,2,0,0,27,58,11,31,9,23:100:100 +1 206665052 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=IKBKE;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/21;CSQ_INTRON=.;CSQ_Feature=NM_001193321.2;CSQ_HGVSc=NM_001193321.2:c.1550C>T;CSQ_HGVSp=NP_001180250.1:p.Ala517Val;CSQ_HGVSg=1:g.206665052C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3083;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.0998575;CSQ_gnomADe_AC=24408;CSQ_gnomADe_AN=246244;CSQ_gnomADe_AF=0.0991212;CSQ_gnomADe_Hom=3593;CSQ_COSMICcMuts=COSV65622897&COSV65622897&COSV65622897;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=0.017;CSQ_Mastermind_MMID3=IKBKE:A517V&IKBKE:A602V;CSQ_CADD_PHRED=12.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,15:162:0.09259:65:-100:0.1474:4,3,1,6,1,0,23,60,16,29,14,20:100:100 +1 206665052 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=IKBKE;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/21;CSQ_INTRON=.;CSQ_Feature=NM_001193322.2;CSQ_HGVSc=NM_001193322.2:c.1805C>T;CSQ_HGVSp=NP_001180251.1:p.Ala602Val;CSQ_HGVSg=1:g.206665052C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3083;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.0998575;CSQ_gnomADe_AC=24408;CSQ_gnomADe_AN=246244;CSQ_gnomADe_AF=0.0991212;CSQ_gnomADe_Hom=3593;CSQ_COSMICcMuts=COSV65622897&COSV65622897&COSV65622897;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=0.017;CSQ_Mastermind_MMID3=IKBKE:A517V&IKBKE:A602V;CSQ_CADD_PHRED=12.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,15:162:0.09259:65:-100:0.1474:4,3,1,6,1,0,23,60,16,29,14,20:100:100 +1 206665052 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=IKBKE;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/22;CSQ_INTRON=.;CSQ_Feature=NM_014002.4;CSQ_HGVSc=NM_014002.4:c.1805C>T;CSQ_HGVSp=NP_054721.1:p.Ala602Val;CSQ_HGVSg=1:g.206665052C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3083;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.0998575;CSQ_gnomADe_AC=24408;CSQ_gnomADe_AN=246244;CSQ_gnomADe_AF=0.0991212;CSQ_gnomADe_Hom=3593;CSQ_COSMICcMuts=COSV65622897&COSV65622897&COSV65622897;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=0.017;CSQ_Mastermind_MMID3=IKBKE:A517V&IKBKE:A602V;CSQ_CADD_PHRED=12.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,15:162:0.09259:65:-100:0.1474:4,3,1,6,1,0,23,60,16,29,14,20:100:100 +1 206669465 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=IKBKE;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_001193321.2;CSQ_HGVSc=NM_001193321.2:c.1883C>T;CSQ_HGVSp=NP_001180250.1:p.Pro628Leu;CSQ_HGVSg=1:g.206669465C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5172;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.16753;CSQ_gnomADe_AC=49045;CSQ_gnomADe_AN=245734;CSQ_gnomADe_AF=0.199586;CSQ_gnomADe_Hom=5467;CSQ_COSMICcMuts=COSV65622766&COSV65622766&COSV65622766;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.056;CSQ_Mastermind_MMID3=IKBKE:3UTR&IKBKE:P628L&IKBKE:P713L;CSQ_CADD_PHRED=17.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,15:136:0.11029:65:-100:0.1338:2,6,3,1,0,3,26,48,15,20,6,21:100:100 +1 206669465 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=IKBKE;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_001193322.2;CSQ_HGVSc=NM_001193322.2:c.*51C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.206669465C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5172;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.16753;CSQ_gnomADe_AC=49045;CSQ_gnomADe_AN=245734;CSQ_gnomADe_AF=0.199586;CSQ_gnomADe_Hom=5467;CSQ_COSMICcMuts=COSV65622766&COSV65622766&COSV65622766;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,15:136:0.11029:65:-100:0.1338:2,6,3,1,0,3,26,48,15,20,6,21:100:100 +1 206669465 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=IKBKE;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/22;CSQ_INTRON=.;CSQ_Feature=NM_014002.4;CSQ_HGVSc=NM_014002.4:c.2138C>T;CSQ_HGVSp=NP_054721.1:p.Pro713Leu;CSQ_HGVSg=1:g.206669465C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5172;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.16753;CSQ_gnomADe_AC=49045;CSQ_gnomADe_AN=245734;CSQ_gnomADe_AF=0.199586;CSQ_gnomADe_Hom=5467;CSQ_COSMICcMuts=COSV65622766&COSV65622766&COSV65622766;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.056;CSQ_Mastermind_MMID3=IKBKE:3UTR&IKBKE:P628L&IKBKE:P713L;CSQ_CADD_PHRED=17.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,15:136:0.11029:65:-100:0.1338:2,6,3,1,0,3,26,48,15,20,6,21:100:100 +1 226555302 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=PARP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/23;CSQ_INTRON=.;CSQ_Feature=NM_001618.4;CSQ_HGVSc=NM_001618.4:c.2285T>C;CSQ_HGVSp=NP_001609.2:p.Val762Ala;CSQ_HGVSg=1:g.226555302A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1261945;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5010;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.161979;CSQ_gnomADe_AC=52358;CSQ_gnomADe_AN=246194;CSQ_gnomADe_AF=0.21267;CSQ_gnomADe_Hom=7526;CSQ_COSMICcMuts=COSV64689246;CSQ_COSMICncMuts=COSV64689246&COSV64689246;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.180;CSQ_Mastermind_MMID3=PARP1:V762A;CSQ_CADD_PHRED=27.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,35:150:0.23333:65:-100:0.1477:6,13,2,8,1,5,27,51,9,21,11,31:100:100 +1 226567847 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=PARP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_001618.4;CSQ_HGVSc=NM_001618.4:c.1319A>G;CSQ_HGVSp=NP_001609.2:p.Asn440Ser;CSQ_HGVSg=1:g.226567847T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=9.68367e-05;CSQ_gnomADe_AC=17;CSQ_gnomADe_AN=245920;CSQ_gnomADe_AF=6.91282e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=0.024;CSQ_Mastermind_MMID3=PARP1:N440S;CSQ_CADD_PHRED=9.449 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,7:148:0.0473:65:-46.9382:0.1294:1,2,0,2,0,2,29,50,15,25,7,22:88.391:100 +1 226568817 . TC T 100 PASS DP=178;CSQ_Allele=-;CSQ_SYMBOL=PARP1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/23;CSQ_INTRON=.;CSQ_Feature=NM_001618.4;CSQ_HGVSc=NM_001618.4:c.1251del;CSQ_HGVSp=NP_001609.2:p.Lys418SerfsTer2;CSQ_HGVSg=1:g.226568823del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64689421;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,18:178:0.10112:65:-100:0:3,7,3,4,0,1,33,60,18,26,7,34:100:100 +1 226570840 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=PARP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/23;CSQ_INTRON=.;CSQ_Feature=NM_001618.4;CSQ_HGVSc=NM_001618.4:c.1056A>G;CSQ_HGVSp=NP_001609.2:p.Lys352%3D;CSQ_HGVSg=1:g.226570840T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25447;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.822782;CSQ_gnomADe_AC=193022;CSQ_gnomADe_AN=246232;CSQ_gnomADe_AF=0.783903;CSQ_gnomADe_Hom=77527;CSQ_COSMICcMuts=COSV64689254;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PARP1:K352K;CSQ_CADD_PHRED=9.965 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,88:118:0.74576:65:-100:0.1511:23,33,4,14,7,7,28,41,6,20,10,13:100:100 +1 226573274 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=PARP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/23;CSQ_INTRON=.;CSQ_Feature=NM_001618.4;CSQ_HGVSc=NM_001618.4:c.942C>T;CSQ_HGVSp=NP_001609.2:p.Asp314%3D;CSQ_HGVSg=1:g.226573274G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=715247;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=60;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00193786;CSQ_gnomADe_AC=1410;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.00572556;CSQ_gnomADe_Hom=16;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PARP1:D314D;CSQ_CADD_PHRED=8.248 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,7:153:0.04575:65:-96.3602:0.0947:2,2,1,1,0,1,22,53,14,27,17,20:68.237:100 +1 226573364 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=PARP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/23;CSQ_INTRON=.;CSQ_Feature=NM_001618.4;CSQ_HGVSc=NM_001618.4:c.852T>C;CSQ_HGVSp=NP_001609.2:p.Ala284%3D;CSQ_HGVSg=1:g.226573364A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13313;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.430618;CSQ_gnomADe_AC=104491;CSQ_gnomADe_AN=246118;CSQ_gnomADe_AF=0.424557;CSQ_gnomADe_Hom=24697;CSQ_COSMICcMuts=COSV64689261;CSQ_COSMICncMuts=COSV64689261;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PARP1:A284A;CSQ_CADD_PHRED=5.442 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,66:121:0.54545:65:-100:0.1597:11,24,8,10,7,6,19,42,12,15,16,17:100:100 +1 226589958 . G A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=PARP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/23;CSQ_INTRON=.;CSQ_Feature=NM_001618.4;CSQ_HGVSc=NM_001618.4:c.243C>T;CSQ_HGVSp=NP_001609.2:p.Asp81%3D;CSQ_HGVSg=1:g.226589958G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5694;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.1842;CSQ_gnomADe_AC=53622;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.217839;CSQ_gnomADe_Hom=7684;CSQ_COSMICcMuts=COSV64687027&COSV64687027&COSV64687027&COSV64687027;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PARP1:D81D;CSQ_CADD_PHRED=11.66 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,29:158:0.18354:65:-100:0.1319:5,12,3,4,1,4,22,64,14,28,12,18:100:100 +1 228612838 . G T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=HIST3H3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_003493.3;CSQ_HGVSc=NM_003493.3:c.189C>A;CSQ_HGVSp=NP_003484.1:p.Ile63%3D;CSQ_HGVSg=1:g.228612838G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22467;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.726711;CSQ_gnomADe_AC=205157;CSQ_gnomADe_AN=246254;CSQ_gnomADe_AF=0.833111;CSQ_gnomADe_Hom=87671;CSQ_COSMICcMuts=COSV64210568;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H3-4:I63I;CSQ_CADD_PHRED=4.433 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,108:141:0.76596:65:-100:0.1607:26,34,2,15,14,17,29,47,6,21,16,22:100:100 +1 241663825 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=FH;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_000143.4;CSQ_HGVSc=NM_000143.4:c.1302C>T;CSQ_HGVSp=NP_000134.2:p.Cys434%3D;CSQ_HGVSg=1:g.241663825G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137372;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_leiomyomatosis_and_renal_cell_cancer&Fumarase_deficiency&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=947;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0306492;CSQ_gnomADe_AC=1816;CSQ_gnomADe_AN=246078;CSQ_gnomADe_AF=0.00737977;CSQ_gnomADe_Hom=89;CSQ_COSMICcMuts=COSV63818880;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FH:C434C;CSQ_CADD_PHRED=8.797 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,8:119:0.06723:65:-100:0.2067:0,3,0,1,2,2,14,45,6,13,14,27:71.586:100 +1 241676972 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=FH;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_000143.4;CSQ_HGVSc=NM_000143.4:c.309C>T;CSQ_HGVSp=NP_000134.2:p.Ala103%3D;CSQ_HGVSg=1:g.241676972G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137373;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_leiomyomatosis_and_renal_cell_cancer&Fumarase_deficiency&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=857;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0276845;CSQ_gnomADe_AC=1653;CSQ_gnomADe_AN=246214;CSQ_gnomADe_AF=0.00671367;CSQ_gnomADe_Hom=74;CSQ_COSMICcMuts=COSV63817865;CSQ_COSMICncMuts=COSV63817865;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FH:A103A;CSQ_CADD_PHRED=11.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,10:135:0.07407:65:-100:0.1401:4,4,2,0,0,0,26,44,15,21,10,19:100:100 +1 243663604 . ACAAT A 100 PASS DP=138;CSQ_Allele=-;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*4943_*4946del;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243663615_243663618del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10932;CSQ_gnomADg_AN=30686;CSQ_gnomADg_AF=0.356254;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,78:138:0.56522:65:-100:0:16,29,7,10,3,13,28,49,15,13,6,27:100:100 +1 243663716 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*4835A>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243663716T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=55;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00177603;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.22 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,13:150:0.08667:65:-100:0.0741:1,9,0,0,0,3,23,52,10,26,19,20:100:100 +1 243663893 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*4658G>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243663893C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5440;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.175847;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.289 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,48:147:0.32653:65:-100:0.2097:12,11,2,15,2,6,28,54,6,30,8,21:100:100 +1 243664098 . G C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*4453C>G;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243664098G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=928;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0299742;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,13:152:0.08553:65:-100:0.1214:1,8,0,0,3,1,30,57,8,23,14,20:100:100 +1 243664642 . A G 100 PASS DP=171;CSQ_Allele=G;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*3909T>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243664642A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11464;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.370835;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,80:171:0.46784:65:-100:0.1094:10,32,7,14,5,12,18,67,12,35,13,26:100:100 +1 243664857 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*3694G>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243664857C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11278;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.365055;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,88:147:0.59864:65:-100:0.0926:14,32,5,16,6,15,21,53,9,28,10,26:100:100 +1 243664925 . A AATT 100 PASS DP=134;CSQ_Allele=ATT;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*3623_*3625dup;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243664929_243664931dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6445;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.208684;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.762 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,32:134:0.23881:65:-100:0:5,15,1,5,4,2,18,50,13,22,13,17:100:100 +1 243666469 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*2082T>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243666469A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.541 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-95.8637:0.1067:2,1,0,1,0,2,23,40,10,30,7,24:81.16:100 +1 243666643 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*1908C>T;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243666643G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,16:167:0.09581:65:-100:0.1692:1,7,1,4,0,3,24,59,15,35,9,25:100:100 +1 243666694 . GCT G 100 PASS DP=171;CSQ_Allele=-;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*1855_*1856del;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243666697_243666698del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8701;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.281859;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55626417&COSV55626417&COSV55626417&COSV55626417;CSQ_COSMICncMuts=COSV55626417&COSV55626417&COSV55626417&COSV55626417&COSV55626417;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,80:171:0.46784:65:-100:0:14,22,7,25,5,7,32,54,17,41,8,19:100:100 +1 243667216 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*1335G>A;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243667216C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6352;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.2055;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55610555&COSV55610555&COSV55610555&COSV55610555;CSQ_COSMICncMuts=COSV55610555&COSV55610555&COSV55610555&COSV55610555&COSV55610555;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.099 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,48:146:0.32877:65:-100:0.1657:11,15,6,6,3,7,32,46,15,24,9,20:100:100 +1 243667900 . T G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=AKT3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.*651A>C;CSQ_HGVSp=.;CSQ_HGVSg=1:g.243667900T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11176;CSQ_gnomADg_AN=30322;CSQ_gnomADg_AF=0.368577;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,80:122:0.65574:65:-100:0.1286:8,29,14,6,4,19,15,45,21,12,5,24:100:100 +1 243668597 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=AKT3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.1394G>A;CSQ_HGVSp=NP_005456.1:p.Arg465Gln;CSQ_HGVSg=1:g.243668597C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55629231&COSV55629231&COSV55629231&COSV55629231;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=0.189;CSQ_Mastermind_MMID3=AKT3:R465Q;CSQ_CADD_PHRED=23.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,11:160:0.06875:65:-100:0.1398:4,3,0,2,1,1,34,47,10,29,13,27:100:100 +1 243828126 . G T 100 LowSupport;rescued DP=114;CSQ_Allele=T;CSQ_SYMBOL=AKT3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.232C>A;CSQ_HGVSp=NP_005456.1:p.Gln78Lys;CSQ_HGVSg=1:g.243828126G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55609219&COSV55609219&COSV55609219&COSV55609219;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=0.561;CSQ_Mastermind_MMID3=AKT3:Q78K;CSQ_CADD_PHRED=28.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,3:114:0.02632:65:-47.1467:0.1163:0,2,1,0,0,0,19,40,13,9,9,24:26.994:80.936 +1 243828180 . G C 100 PASS DP=102;CSQ_Allele=C;CSQ_SYMBOL=AKT3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/14;CSQ_INTRON=.;CSQ_Feature=NM_005465.7;CSQ_HGVSc=NM_005465.7:c.178C>G;CSQ_HGVSp=NP_005456.1:p.Gln60Glu;CSQ_HGVSg=1:g.243828180G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55609241&COSV55609241&COSV55609241&COSV55609241;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.245;CSQ_Mastermind_MMID3=AKT3:Q60E;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,8:102:0.07843:65:-100:0.1707:1,3,1,2,0,1,12,38,8,13,11,20:95.225:100 +2 16081296 . G A 100 PASS DP=571;CSQ_Allele=A;CSQ_SYMBOL=MYCN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_001293231.2;CSQ_HGVSc=NM_001293231.2:c.157+431G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16081296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:560,11:571:0.01926:65:-100:0.1188:2,4,0,2,0,3,62,200,43,117,43,106:91.529:100 +2 16081296 . G A 100 PASS DP=571;CSQ_Allele=A;CSQ_SYMBOL=MYCN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_005378.6;CSQ_HGVSc=NM_005378.6:c.-118+431G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16081296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:560,11:571:0.01926:65:-100:0.1188:2,4,0,2,0,3,62,200,43,117,43,106:91.529:100 +2 16084594 . T C 100 PASS DP=603;CSQ_Allele=C;CSQ_SYMBOL=MYCN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_001293231.2;CSQ_HGVSc=NM_001293231.2:c.158-1021T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16084594T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13480;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.436246;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:538,65:603:0.10779:65:-100:0.1248:8,18,5,13,4,17,88,189,54,130,29,113:100:100 +2 16084594 . T C 100 PASS DP=603;CSQ_Allele=C;CSQ_SYMBOL=MYCN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005378.6;CSQ_HGVSc=NM_005378.6:c.791-1021T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16084594T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13480;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.436246;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:538,65:603:0.10779:65:-100:0.1248:8,18,5,13,4,17,88,189,54,130,29,113:100:100 +2 16086469 . C T 100 PASS DP=611;CSQ_Allele=T;CSQ_SYMBOL=MYCN;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_001293231.2;CSQ_HGVSc=NM_001293231.2:c.*250C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16086469C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1276196;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5837;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.188777;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55258890;CSQ_COSMICncMuts=COSV55258890&COSV55258890&COSV55258890&COSV55258890;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYCN:3UTR;CSQ_CADD_PHRED=9.367 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:573,38:611:0.06219:65:-100:0.149:5,12,3,11,3,4,95,218,46,109,41,102:100:100 +2 16086469 . C T 100 PASS DP=611;CSQ_Allele=T;CSQ_SYMBOL=MYCN;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_005378.6;CSQ_HGVSc=NM_005378.6:c.*250C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16086469C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1276196;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5837;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.188777;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55258890;CSQ_COSMICncMuts=COSV55258890&COSV55258890&COSV55258890&COSV55258890;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYCN:3UTR;CSQ_CADD_PHRED=9.367 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:573,38:611:0.06219:65:-100:0.149:5,12,3,11,3,4,95,218,46,109,41,102:100:100 +2 16089359 . T C 100 PASS DP=647;CSQ_Allele=C;CSQ_SYMBOL=MYCN;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001293231.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16089359T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13553;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.438381;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:592,55:647:0.08501:65:-100:0.1269:12,19,7,9,1,7,115,219,41,111,58,103:100:100 +2 16089359 . T C 100 PASS DP=647;CSQ_Allele=C;CSQ_SYMBOL=MYCN;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005378.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16089359T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13553;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.438381;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:592,55:647:0.08501:65:-100:0.1269:12,19,7,9,1,7,115,219,41,111,58,103:100:100 +2 16089442 . T A 100 PASS DP=672;CSQ_Allele=A;CSQ_SYMBOL=MYCN;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001293231.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16089442T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13512;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.438104;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:607,65:672:0.09673:65:-100:0.1227:6,22,8,15,4,10,108,233,49,123,57,102:100:100 +2 16089442 . T A 100 PASS DP=672;CSQ_Allele=A;CSQ_SYMBOL=MYCN;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005378.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.16089442T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13512;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.438104;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:607,65:672:0.09673:65:-100:0.1227:6,22,8,15,4,10,108,233,49,123,57,102:100:100 +2 17942775 . T A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=GEN1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/14;CSQ_INTRON=.;CSQ_Feature=NM_001130009.3;CSQ_HGVSc=NM_001130009.3:c.274T>A;CSQ_HGVSp=NP_001123481.3:p.Ser92Thr;CSQ_HGVSg=2:g.17942775T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169875;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=21152;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.684885;CSQ_gnomADe_AC=176201;CSQ_gnomADe_AN=246024;CSQ_gnomADe_AF=0.716194;CSQ_gnomADe_Hom=65292;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.034;CSQ_Mastermind_MMID3=GEN1:S92T;CSQ_CADD_PHRED=12.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,128:161:0.79503:65:-100:0.1436:13,43,13,24,7,28,16,53,15,31,9,37:100:100 +2 17946243 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=GEN1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/14;CSQ_INTRON=.;CSQ_Feature=NM_001130009.3;CSQ_HGVSc=NM_001130009.3:c.428A>G;CSQ_HGVSp=NP_001123481.3:p.Asn143Ser;CSQ_HGVSg=2:g.17946243A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1167514;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4303;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.139058;CSQ_gnomADe_AC=24683;CSQ_gnomADe_AN=246224;CSQ_gnomADe_AF=0.100246;CSQ_gnomADe_Hom=1517;CSQ_COSMICcMuts=COSV58057028&COSV58057028&COSV58057028;CSQ_COSMICncMuts=COSV58057028&COSV58057028;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=0.291;CSQ_Mastermind_MMID3=GEN1:N143S;CSQ_CADD_PHRED=19.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,12:161:0.07453:65:-100:0.1202:1,6,0,2,1,2,26,57,16,28,11,23:100:100 +2 17947927 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=GEN1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/14;CSQ_INTRON=.;CSQ_Feature=NM_001130009.3;CSQ_HGVSc=NM_001130009.3:c.607A>G;CSQ_HGVSp=NP_001123481.3:p.Ile203Val;CSQ_HGVSg=2:g.17947927A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169750;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1115;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0360026;CSQ_gnomADe_AC=3389;CSQ_gnomADe_AN=245506;CSQ_gnomADe_AF=0.0138041;CSQ_gnomADe_Hom=109;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=0.090;CSQ_Mastermind_MMID3=GEN1:I203V;CSQ_CADD_PHRED=1.525 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,16:149:0.10738:65:-100:0.0629:2,5,2,3,2,2,20,45,11,30,13,30:100:100 +2 17954027 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=GEN1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/14;CSQ_INTRON=.;CSQ_Feature=NM_001130009.3;CSQ_HGVSc=NM_001130009.3:c.929G>A;CSQ_HGVSp=NP_001123481.3:p.Ser310Asn;CSQ_HGVSg=2:g.17954027G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169876;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30560;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.988165;CSQ_gnomADe_AC=243107;CSQ_gnomADe_AN=244466;CSQ_gnomADe_AF=0.994441;CSQ_gnomADe_Hom=120899;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.020;CSQ_Mastermind_MMID3=GEN1:S310N;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,125:125:1:65:-100:0.1319:23,44,11,27,7,13,23,44,11,27,7,13:100:100 +2 17961321 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=GEN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/14;CSQ_INTRON=.;CSQ_Feature=NM_001130009.3;CSQ_HGVSc=NM_001130009.3:c.1341A>G;CSQ_HGVSp=NP_001123481.3:p.Ala447%3D;CSQ_HGVSg=2:g.17961321A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169751;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1116;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.0360186;CSQ_gnomADe_AC=3393;CSQ_gnomADe_AN=245562;CSQ_gnomADe_AF=0.0138173;CSQ_gnomADe_Hom=108;CSQ_COSMICcMuts=COSV58057747&COSV58057747&COSV58057747;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GEN1:A447A;CSQ_CADD_PHRED=8.739 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,12:149:0.08054:65:-100:0.0688:4,1,3,2,0,2,34,45,11,31,10,18:100:100 +2 17962450 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=GEN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001130009.3;CSQ_HGVSc=NM_001130009.3:c.1971A>G;CSQ_HGVSp=NP_001123481.3:p.Glu657%3D;CSQ_HGVSg=2:g.17962450A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169877;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=14055;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.455178;CSQ_gnomADe_AC=144452;CSQ_gnomADe_AN=245424;CSQ_gnomADe_AF=0.588581;CSQ_gnomADe_Hom=46195;CSQ_COSMICcMuts=COSV58057416&COSV58057416&COSV58057416;CSQ_COSMICncMuts=COSV58057416;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GEN1:E657E;CSQ_CADD_PHRED=10.34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,96:156:0.61538:65:-100:0.1186:14,23,7,22,11,19,23,47,12,30,18,26:100:100 +2 17962518 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=GEN1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001130009.3;CSQ_HGVSc=NM_001130009.3:c.2039C>T;CSQ_HGVSp=NP_001123481.3:p.Thr680Ile;CSQ_HGVSg=2:g.17962518C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169878;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19751;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.639191;CSQ_gnomADe_AC=172672;CSQ_gnomADe_AN=245340;CSQ_gnomADe_AF=0.703807;CSQ_gnomADe_Hom=63048;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=0.047;CSQ_Mastermind_MMID3=GEN1:T680I;CSQ_CADD_PHRED=8.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,103:140:0.73571:65:-100:0.1195:16,28,6,27,10,16,20,45,8,34,12,21:100:100 +2 17963123 . A G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=GEN1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001130009.3;CSQ_HGVSc=NM_001130009.3:c.2644A>G;CSQ_HGVSp=NP_001123481.3:p.Lys882Glu;CSQ_HGVSg=2:g.17963123A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1165015;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=650;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0209921;CSQ_gnomADe_AC=4263;CSQ_gnomADe_AN=235676;CSQ_gnomADe_AF=0.0180884;CSQ_gnomADe_Hom=49;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=GEN1:K882E;CSQ_CADD_PHRED=11.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,6:129:0.04651:65:-47.2915:0.1513:1,2,0,1,0,2,19,51,13,20,5,21:66.681:100 +2 25469502 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=DNMT3A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_022552.5;CSQ_HGVSc=NM_022552.5:c.1266G>A;CSQ_HGVSp=NP_072046.2:p.Leu422%3D;CSQ_HGVSg=2:g.25469502C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1164958;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tall_stature-intellectual_disability-facial_dysmorphism_syndrome¬_provided;CSQ_gnomADg_AC=6801;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.220225;CSQ_gnomADe_AC=46010;CSQ_gnomADe_AN=242724;CSQ_gnomADe_AF=0.189557;CSQ_gnomADe_Hom=4760;CSQ_COSMICcMuts=COSV53040646&COSV53040646&COSV53040646&COSV53040646;CSQ_COSMICncMuts=COSV53040646&COSV53040646&COSV53040646&COSV53040646&COSV53040646&COSV53040646&COSV53040646&COSV53040646;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3A:L199L&DNMT3A:L233L&DNMT3A:L270L&DNMT3A:L422L;CSQ_CADD_PHRED=10.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,46:134:0.34328:65:-100:0.1829:7,18,2,7,8,4,27,45,18,14,12,18:100:100 +2 25469502 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=DNMT3A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/19;CSQ_INTRON=.;CSQ_Feature=NM_153759.3;CSQ_HGVSc=NM_153759.3:c.699G>A;CSQ_HGVSp=NP_715640.2:p.Leu233%3D;CSQ_HGVSg=2:g.25469502C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1164958;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tall_stature-intellectual_disability-facial_dysmorphism_syndrome¬_provided;CSQ_gnomADg_AC=6801;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.220225;CSQ_gnomADe_AC=46010;CSQ_gnomADe_AN=242724;CSQ_gnomADe_AF=0.189557;CSQ_gnomADe_Hom=4760;CSQ_COSMICcMuts=COSV53040646&COSV53040646&COSV53040646&COSV53040646;CSQ_COSMICncMuts=COSV53040646&COSV53040646&COSV53040646&COSV53040646&COSV53040646&COSV53040646&COSV53040646&COSV53040646;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3A:L199L&DNMT3A:L233L&DNMT3A:L270L&DNMT3A:L422L;CSQ_CADD_PHRED=10.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,46:134:0.34328:65:-100:0.1829:7,18,2,7,8,4,27,45,18,14,12,18:100:100 +2 25471002 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=DNMT3A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/23;CSQ_INTRON=.;CSQ_Feature=NM_022552.5;CSQ_HGVSc=NM_022552.5:c.759C>T;CSQ_HGVSp=NP_072046.2:p.Pro253%3D;CSQ_HGVSg=2:g.25471002G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=434955;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tall_stature-intellectual_disability-facial_dysmorphism_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=226;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0073021;CSQ_gnomADe_AC=429;CSQ_gnomADe_AN=244206;CSQ_gnomADe_AF=0.00175671;CSQ_gnomADe_Hom=5;CSQ_COSMICcMuts=COSV99259828&COSV99259828&COSV99259828&COSV99259828;CSQ_COSMICncMuts=COSV99259828&COSV99259828&COSV99259828&COSV99259828&COSV99259828&COSV99259828;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3A:P101P&DNMT3A:P253P&DNMT3A:P30P&DNMT3A:P64P;CSQ_CADD_PHRED=5.478 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,14:143:0.0979:65:-100:0.1118:1,3,2,5,0,3,21,49,12,25,12,24:100:100 +2 25471002 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=DNMT3A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/19;CSQ_INTRON=.;CSQ_Feature=NM_153759.3;CSQ_HGVSc=NM_153759.3:c.192C>T;CSQ_HGVSp=NP_715640.2:p.Pro64%3D;CSQ_HGVSg=2:g.25471002G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=434955;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tall_stature-intellectual_disability-facial_dysmorphism_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=226;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0073021;CSQ_gnomADe_AC=429;CSQ_gnomADe_AN=244206;CSQ_gnomADe_AF=0.00175671;CSQ_gnomADe_Hom=5;CSQ_COSMICcMuts=COSV99259828&COSV99259828&COSV99259828&COSV99259828;CSQ_COSMICncMuts=COSV99259828&COSV99259828&COSV99259828&COSV99259828&COSV99259828&COSV99259828;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3A:P101P&DNMT3A:P253P&DNMT3A:P30P&DNMT3A:P64P;CSQ_CADD_PHRED=5.478 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,14:143:0.0979:65:-100:0.1118:1,3,2,5,0,3,21,49,12,25,12,24:100:100 +2 25504665 . CA C 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=DNMT3A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/22;CSQ_Feature=NM_022552.5;CSQ_HGVSc=NM_022552.5:c.448+644del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.25504670del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,6:155:0.03871:65:-45.9152:0:0,4,1,0,0,1,30,54,9,17,18,27:61.419:100 +2 25504665 . CA C 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=DNMT3A;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_175630.1;CSQ_HGVSc=NM_175630.1:c.*591del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.25504670del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,6:155:0.03871:65:-45.9152:0:0,4,1,0,0,1,30,54,9,17,18,27:61.419:100 +2 25536827 . G A 100 PASS DP=67;CSQ_Allele=A;CSQ_SYMBOL=DNMT3A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/23;CSQ_INTRON=.;CSQ_Feature=NM_022552.5;CSQ_HGVSc=NM_022552.5:c.27C>T;CSQ_HGVSp=NP_072046.2:p.Pro9%3D;CSQ_HGVSg=2:g.25536827G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169865;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tall_stature-intellectual_disability-facial_dysmorphism_syndrome¬_provided;CSQ_gnomADg_AC=2502;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.080908;CSQ_gnomADe_AC=14103;CSQ_gnomADe_AN=146206;CSQ_gnomADe_AF=0.0964598;CSQ_gnomADe_Hom=838;CSQ_COSMICcMuts=COSV53040679&COSV53040679&COSV53040679;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3A:P9P;CSQ_CADD_PHRED=12.91 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,13:67:0.19403:65:-100:0.2637:3,2,3,2,1,2,18,15,8,10,9,7:100:100 +2 25536827 . G A 100 PASS DP=67;CSQ_Allele=A;CSQ_SYMBOL=DNMT3A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_175630.1;CSQ_HGVSc=NM_175630.1:c.27C>T;CSQ_HGVSp=NP_783329.1:p.Pro9%3D;CSQ_HGVSg=2:g.25536827G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169865;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tall_stature-intellectual_disability-facial_dysmorphism_syndrome¬_provided;CSQ_gnomADg_AC=2502;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.080908;CSQ_gnomADe_AC=14103;CSQ_gnomADe_AN=146206;CSQ_gnomADe_AF=0.0964598;CSQ_gnomADe_Hom=838;CSQ_COSMICcMuts=COSV53040679&COSV53040679&COSV53040679;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3A:P9P;CSQ_CADD_PHRED=12.91 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,13:67:0.19403:65:-100:0.2637:3,2,3,2,1,2,18,15,8,10,9,7:100:100 +2 26022277 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=ASXL2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/13;CSQ_INTRON=.;CSQ_Feature=NM_018263.6;CSQ_HGVSc=NM_018263.6:c.380A>G;CSQ_HGVSp=NP_060733.4:p.Lys127Arg;CSQ_HGVSg=2:g.26022277T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1167925;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1722;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0555986;CSQ_gnomADe_AC=12066;CSQ_gnomADe_AN=245888;CSQ_gnomADe_AF=0.0490711;CSQ_gnomADe_Hom=392;CSQ_COSMICcMuts=COSV55458187&COSV55458187&COSV55458187;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.069;CSQ_Mastermind_MMID3=ASXL2:K127R&ASXL2:K69R;CSQ_CADD_PHRED=16.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,16:169:0.09467:65:-100:0.155:2,4,3,2,4,1,32,61,17,26,17,16:100:100 +2 29416326 . G A 100 PASS DP=186;CSQ_Allele=A;CSQ_SYMBOL=ALK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=29/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.4627C>T;CSQ_HGVSp=NP_004295.2:p.Pro1543Ser;CSQ_HGVSg=2:g.29416326G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245896;CSQ_gnomADe_AF=8.13352e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV66585812&COSV66585812;CSQ_COSMICncMuts=COSV66585812;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.036;CSQ_Mastermind_MMID3=ALK:P1543S;CSQ_CADD_PHRED=11.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:178,8:186:0.04301:65:-100:0.1545:3,1,2,0,0,2,30,70,21,32,11,22:86.781:100 +2 29416357 . G A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=29/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.4596C>T;CSQ_HGVSp=NP_004295.2:p.Asn1532%3D;CSQ_HGVSg=2:g.29416357G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=335687;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=509;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0164384;CSQ_gnomADe_AC=1117;CSQ_gnomADe_AN=245896;CSQ_gnomADe_AF=0.00454257;CSQ_gnomADe_Hom=28;CSQ_COSMICcMuts=COSV104692661&COSV104692661;CSQ_COSMICncMuts=COSV104692661;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:N1532N&ALK:N464N;CSQ_CADD_PHRED=0.829 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,20:170:0.11765:65:-100:0.15:2,9,1,5,1,2,27,57,20,27,15,24:100:100 +2 29416366 . G C 100 PASS DP=175;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=29/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.4587C>G;CSQ_HGVSp=NP_004295.2:p.Asp1529Glu;CSQ_HGVSg=2:g.29416366G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=133476;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=14854;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.480836;CSQ_gnomADe_AC=115007;CSQ_gnomADe_AN=245880;CSQ_gnomADe_AF=0.467736;CSQ_gnomADe_Hom=29583;CSQ_COSMICcMuts=COSV66569695&COSV66569695;CSQ_COSMICncMuts=COSV66569695;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.063;CSQ_Mastermind_MMID3=ALK:D1529E&ALK:D461E;CSQ_CADD_PHRED=0.054 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,90:175:0.51429:65:-100:0.1463:10,32,10,16,4,18,21,66,20,29,13,26:100:100 +2 29416481 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=29/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.4472A>G;CSQ_HGVSp=NP_004295.2:p.Lys1491Arg;CSQ_HGVSg=2:g.29416481T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=133474;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=8462;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.273709;CSQ_gnomADe_AC=84463;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=0.343097;CSQ_gnomADe_Hom=18527;CSQ_COSMICcMuts=COSV66555753&COSV66555753;CSQ_COSMICncMuts=COSV66555753;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.088;CSQ_Mastermind_MMID3=ALK:K1491R&ALK:K423R;CSQ_CADD_PHRED=17.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,62:160:0.3875:65:-100:0.1534:12,17,4,14,3,12,27,52,14,27,13,27:100:100 +2 29416572 . T C 100 PASS DP=179;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=29/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.4381A>G;CSQ_HGVSp=NP_004295.2:p.Ile1461Val;CSQ_HGVSg=2:g.29416572T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=133472;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=30664;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.990695;CSQ_gnomADe_AC=244651;CSQ_gnomADe_AN=245250;CSQ_gnomADe_AF=0.997558;CSQ_gnomADe_Hom=122036;CSQ_COSMICcMuts=COSV101201052&COSV101201052;CSQ_COSMICncMuts=COSV101201052;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.021;CSQ_Mastermind_MMID3=ALK:I1461V&ALK:I393V;CSQ_CADD_PHRED=0.648 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,179:179:1:65:-100:0.1353:27,64,14,35,13,26,27,64,14,35,13,26:100:100 +2 29416615 . G A 100 PASS DP=181;CSQ_Allele=A;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=29/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.4338C>T;CSQ_HGVSp=NP_004295.2:p.Thr1446%3D;CSQ_HGVSg=2:g.29416615G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259273;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3525;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.113938;CSQ_gnomADe_AC=21918;CSQ_gnomADe_AN=234410;CSQ_gnomADe_AF=0.0935028;CSQ_gnomADe_Hom=1333;CSQ_COSMICcMuts=COSV66564612&COSV66564612;CSQ_COSMICncMuts=COSV66564612;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:T1446T&ALK:T378T;CSQ_CADD_PHRED=0.239 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:174,7:181:0.03867:65:-100:0.1581:0,3,1,1,1,1,34,60,20,32,14,21:83.23:100 +2 29420501 . T C 100 PASS DP=149;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=27/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3980A>G;CSQ_HGVSp=NP_004295.2:p.Tyr1327Cys;CSQ_HGVSg=2:g.29420501T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.564;CSQ_Mastermind_MMID3=ALK:Y1327C;CSQ_CADD_PHRED=23.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,21:149:0.14094:65:-100:0.1582:6,5,0,3,2,5,33,40,13,25,14,24:100:100 +2 29436858 . G T 43 LowSupport;rescued DP=165;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3735C>A;CSQ_HGVSp=NP_004295.2:p.Phe1245Leu;CSQ_HGVSg=2:g.29436858G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=217857;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66575437&COSV66575437;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.07;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=0.774;CSQ_Mastermind_MMID3=ALK:F1245L&ALK:F177L;CSQ_CADD_PHRED=29.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:43:164,1:165:0.00606:65:-45.6047:0.1582:0,0,1,0,0,0,30,57,13,25,15,25:7.051:0 +2 29445458 . G T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3375C>A;CSQ_HGVSp=NP_004295.2:p.Gly1125%3D;CSQ_HGVSg=2:g.29445458G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=335694;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=8462;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.274242;CSQ_gnomADe_AC=82485;CSQ_gnomADe_AN=245248;CSQ_gnomADe_AF=0.336333;CSQ_gnomADe_Hom=17926;CSQ_COSMICcMuts=COSV66569704&COSV66569704;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:G1125G&ALK:G57G;CSQ_CADD_PHRED=4.230 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,46:135:0.34074:65:-100:0.1615:7,17,1,9,6,6,16,43,7,28,15,26:100:100 +2 29445798 . T C 100 PASS DP=197;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3360-325A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29445798T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28963;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.937071;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:R1120int&ALK:R1120inta&ALK:R52int&ALK:R52inta;CSQ_CADD_PHRED=3.449 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,197:197:1:65:-100:0.1322:32,64,13,31,17,40,32,64,13,31,17,40:100:100 +2 29445809 . T C 100 PASS DP=185;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3360-336A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29445809T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6684;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.216563;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:R1120int&ALK:R1120inta&ALK:R52int&ALK:R52inta;CSQ_CADD_PHRED=3.274 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,27:185:0.14595:65:-100:0.1514:6,7,1,6,1,6,28,60,16,29,13,39:100:100 +2 29445982 . G C 100 PASS DP=165;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3359+226C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29445982G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1224558;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11923;CSQ_gnomADg_AN=30784;CSQ_gnomADg_AF=0.387312;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:R1120int&ALK:R1120intd&ALK:R52int&ALK:R52intd;CSQ_CADD_PHRED=6.988 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,44:165:0.26667:65:-100:0.1361:5,23,5,5,0,6,23,73,11,27,9,22:100:100 +2 29446043 . C A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3359+165G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29446043C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1208516;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=415;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0134174;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.907 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,12:168:0.07143:65:-100:0.1683:1,6,1,1,1,2,22,69,12,22,12,31:100:100 +2 29446128 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3359+80T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29446128A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=677559;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3709;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.120118;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66564618&COSV66564618;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:R1120int&ALK:R1120intd&ALK:R52int&ALK:R52intd;CSQ_CADD_PHRED=0.666 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,15:166:0.09036:65:-100:0.1531:4,8,0,0,1,2,20,80,12,16,13,25:100:100 +2 29446184 . C G 100 PASS DP=173;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3359+24G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29446184C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=873174;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma¬_provided;CSQ_gnomADg_AC=8530;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.276338;CSQ_gnomADe_AC=83306;CSQ_gnomADe_AN=243758;CSQ_gnomADe_AF=0.341757;CSQ_gnomADe_Hom=18414;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:R1120int&ALK:R1120intd&ALK:R52int&ALK:R52intd;CSQ_CADD_PHRED=1.481 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,67:173:0.38728:65:-100:0.1602:7,30,7,9,1,13,29,64,16,24,12,28:100:100 +2 29446202 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ALK;CSQ_Consequence=splice_donor_region_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=20/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3359+6C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29446202G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259271;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3¬_specified¬_provided;CSQ_gnomADg_AC=7784;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.251991;CSQ_gnomADe_AC=70160;CSQ_gnomADe_AN=244908;CSQ_gnomADe_AF=0.286475;CSQ_gnomADe_Hom=11931;CSQ_COSMICcMuts=COSV66569119&COSV66569119;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:R1120int&ALK:R1120intd&ALK:R1120srd&ALK:R52int&ALK:R52intd&ALK:R52srd;CSQ_CADD_PHRED=6.331 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,23:165:0.13939:65:-100:0.1176:5,6,2,2,5,3,29,57,14,21,18,26:100:100 +2 29446701 . T C 100 PASS DP=172;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3173-307A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29446701T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1270699;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12148;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.393216;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66558292&COSV66558292;CSQ_COSMICncMuts=COSV66558292;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:V1058int&ALK:V1058inta;CSQ_CADD_PHRED=2.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,67:172:0.38953:65:-100:0.0995:7,19,9,10,5,17,13,61,22,26,11,39:100:100 +2 29446721 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3173-327T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29446721A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27188;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.879415;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:V1058int&ALK:V1058inta;CSQ_CADD_PHRED=4.183 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:10,151:161:0.93789:65:-100:0.1297:21,45,15,29,10,31,21,49,16,30,11,34:100:100 +2 29447108 . G A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3173-714C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29447108G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21828;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.708563;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:V1058int&ALK:V1058inta;CSQ_CADD_PHRED=0.516 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,107:170:0.62941:65:-100:0.1282:15,43,5,19,7,18,19,70,9,28,14,30:100:100 +2 29447253 . A G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3173-859T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29447253A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16427;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.532204;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:V1058int&ALK:V1058inta;CSQ_CADD_PHRED=0.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,137:154:0.88961:65:-100:0.1348:29,49,12,17,13,17,29,55,13,20,17,20:100:100 +2 29447980 . C T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3172+347G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29447980C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1711496;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=273;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.00882353;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.166 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,9:172:0.05233:65:-100:0.1269:0,5,0,2,2,0,21,65,10,34,19,23:99.677:100 +2 29448206 . C A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3172+121G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29448206C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.117 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,20:165:0.12121:65:-100:0.1624:3,10,0,2,2,3,26,65,12,33,8,21:100:100 +2 29448760 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3068-329G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29448760C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1277832;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6419;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.208085;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66558297&COSV66558297;CSQ_COSMICncMuts=COSV66558297;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:V1023int&ALK:V1023inta;CSQ_CADD_PHRED=1.763 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,15:158:0.09494:65:-100:0.1319:5,5,1,1,0,3,32,56,15,20,12,23:100:100 +2 29448846 . C G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3068-415G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29448846C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10854;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.352105;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:V1023int&ALK:V1023inta;CSQ_CADD_PHRED=1.428 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,50:153:0.3268:65:-100:0.1356:6,16,2,11,7,8,25,60,6,24,16,22:100:100 +2 29449005 . G T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3068-574C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29449005G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3975;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.128799;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66564624&COSV66564624;CSQ_COSMICncMuts=COSV66564624;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:V1023int&ALK:V1023inta;CSQ_CADD_PHRED=1.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,28:172:0.16279:65:-100:0.177:4,8,2,6,2,6,24,64,15,35,8,26:100:100 +2 29449423 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3067+365C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29449423G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13480;CSQ_gnomADg_AN=30618;CSQ_gnomADg_AF=0.440264;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:V1023int&ALK:V1023intd;CSQ_CADD_PHRED=1.198 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,71:137:0.51825:65:-100:0.2902:11,23,4,14,7,12,19,45,11,24,15,23:100:100 +2 29449526 . C T 100 PASS DP=188;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3067+262G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29449526C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1279411;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9254;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.300396;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.251 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,53:188:0.28191:65:-100:0.157:3,16,8,9,2,15,26,55,23,36,14,34:100:100 +2 29449819 . C T 100 PASS DP=167;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.3036G>A;CSQ_HGVSp=NP_004295.2:p.Thr1012%3D;CSQ_HGVSg=2:g.29449819C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259270;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5216;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.168563;CSQ_gnomADe_AC=38397;CSQ_gnomADe_AN=246190;CSQ_gnomADe_AF=0.155965;CSQ_gnomADe_Hom=3212;CSQ_COSMICcMuts=COSV66557745&COSV66557745;CSQ_COSMICncMuts=COSV66557745;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:T1012T;CSQ_CADD_PHRED=0.088 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,20:167:0.11976:65:-100:0.1566:2,7,3,6,1,1,21,55,12,37,17,25:100:100 +2 29455267 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.2535T>C;CSQ_HGVSp=NP_004295.2:p.Gly845%3D;CSQ_HGVSg=2:g.29455267A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259268;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=19184;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.620841;CSQ_gnomADe_AC=149770;CSQ_gnomADe_AN=246202;CSQ_gnomADe_AF=0.608322;CSQ_gnomADe_Hom=48751;CSQ_COSMICcMuts=COSV66555763&COSV66555763;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:G845G;CSQ_CADD_PHRED=6.297 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,71:153:0.46405:65:-100:0.1105:8,29,8,13,8,5,23,59,16,23,15,17:100:100 +2 29462643 . C T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.2258G>A;CSQ_HGVSp=NP_004295.2:p.Arg753Gln;CSQ_HGVSg=2:g.29462643C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=404365;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245980;CSQ_gnomADe_AF=8.13074e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV66585781&COSV66585781;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.080;CSQ_Mastermind_MMID3=ALK:R753Q;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,8:170:0.04706:65:-100:0.1371:1,5,0,1,0,1,29,56,18,22,17,28:77.328:100 +2 29490349 . G C 100 PASS DP=155;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.2041+7616C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29490349G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=156;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00503843;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.805 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,11:155:0.07097:65:-100:0.1243:1,3,2,4,1,0,26,49,13,30,13,24:100:100 +2 29543663 . T C 100 PASS DP=159;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.1500A>G;CSQ_HGVSp=NP_004295.2:p.Gln500%3D;CSQ_HGVSg=2:g.29543663T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259266;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=24786;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.802292;CSQ_gnomADe_AC=216269;CSQ_gnomADe_AN=246242;CSQ_gnomADe_AF=0.878278;CSQ_gnomADe_Hom=96227;CSQ_COSMICcMuts=COSV66566490&COSV66566490;CSQ_COSMICncMuts=COSV66566490;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:Q500Q;CSQ_CADD_PHRED=1.005 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,123:159:0.77358:65:-100:0.1497:16,44,8,29,9,17,23,56,9,33,13,25:100:100 +2 29543736 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.1427T>C;CSQ_HGVSp=NP_004295.2:p.Val476Ala;CSQ_HGVSg=2:g.29543736A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=133485;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=659;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.021291;CSQ_gnomADe_AC=7031;CSQ_gnomADe_AN=246006;CSQ_gnomADe_AF=0.0285806;CSQ_gnomADe_Hom=129;CSQ_COSMICcMuts=COSV66568530&COSV66568530;CSQ_COSMICncMuts=COSV66568530;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.038;CSQ_Mastermind_MMID3=ALK:V476A;CSQ_CADD_PHRED=10.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,8:145:0.05517:65:-100:0.1317:1,2,1,3,0,1,13,55,8,25,16,28:92.183:100 +2 29670877 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.1155-64152A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.29670877T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16732;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.541454;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,83:152:0.54605:65:-100:0.1412:10,30,6,22,6,9,22,60,12,28,14,16:100:100 +2 29940529 . A T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.702T>A;CSQ_HGVSp=NP_004295.2:p.Pro234%3D;CSQ_HGVSg=2:g.29940529A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259274;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=19656;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.636075;CSQ_gnomADe_AC=182599;CSQ_gnomADe_AN=246184;CSQ_gnomADe_AF=0.741718;CSQ_gnomADe_Hom=70228;CSQ_COSMICcMuts=COSV66584548&COSV66584548;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:P234P;CSQ_CADD_PHRED=4.814 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,91:143:0.63636:65:-100:0.1488:20,28,5,19,14,5,33,45,9,28,16,12:100:100 +2 30134745 . T G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/28;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.667+8114A>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.30134745T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30541;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.985702;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.682 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,126:126:1:65:-100:0.131:18,47,18,20,6,17,18,47,18,20,6,17:100:100 +2 30143058 . C G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.468G>C;CSQ_HGVSp=NP_004295.2:p.Gly156%3D;CSQ_HGVSg=2:g.30143058C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1139085;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=241752;CSQ_gnomADe_AF=4.13647e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:G156G;CSQ_CADD_PHRED=6.268 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,7:131:0.05344:65:-48.5655:0.1325:2,2,0,2,0,1,27,43,7,22,16,16:83.064:100 +2 30143499 . G C 100 PASS DP=72;CSQ_Allele=C;CSQ_SYMBOL=ALK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/29;CSQ_INTRON=.;CSQ_Feature=NM_004304.5;CSQ_HGVSc=NM_004304.5:c.27C>G;CSQ_HGVSp=NP_004295.2:p.Leu9%3D;CSQ_HGVSg=2:g.30143499G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259269;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neuroblastoma&_susceptibility_to&_3&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=27388;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.889163;CSQ_gnomADe_AC=124133;CSQ_gnomADe_AN=136918;CSQ_gnomADe_AF=0.906623;CSQ_gnomADe_Hom=56407;CSQ_COSMICcMuts=COSV66573286&COSV66573286;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALK:L9L;CSQ_CADD_PHRED=8.136 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,65:72:0.90278:65:-100:0.1628:11,15,16,7,11,5,12,17,17,8,12,6:100:100 +2 42396636 . G A 100 PASS DP=68;CSQ_Allele=A;CSQ_SYMBOL=EML4;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.-116G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.42396636G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.622 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,5:68:0.07353:65:-100:0.1392:2,2,0,1,0,0,14,20,5,12,9,8:74.822:100 +2 42396722 . A G 100 PASS DP=99;CSQ_Allele=G;CSQ_SYMBOL=EML4;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.-30A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.42396722A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20452;CSQ_gnomADg_AN=30572;CSQ_gnomADg_AF=0.668978;CSQ_gnomADe_AC=160665;CSQ_gnomADe_AN=228592;CSQ_gnomADe_AF=0.702846;CSQ_gnomADe_Hom=57881;CSQ_COSMICcMuts=COSV59296770&COSV59296770&COSV59296770;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EML4:5UTR;CSQ_CADD_PHRED=20.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,84:99:0.84848:65:-100:0.1538:9,41,5,12,7,10,12,45,9,14,8,11:100:100 +2 42510014 . C T 100 PASS DP=115;CSQ_Allele=T;CSQ_SYMBOL=EML4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.843C>T;CSQ_HGVSp=NP_061936.3:p.Thr281%3D;CSQ_HGVSg=2:g.42510014C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=6.46037e-05;CSQ_gnomADe_AC=24;CSQ_gnomADe_AN=245946;CSQ_gnomADe_AF=9.75824e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.232 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,10:115:0.08696:65:-100:0.1085:0,3,0,4,0,3,10,46,7,17,10,25:95.829:100 +2 42510018 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=EML4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.847A>G;CSQ_HGVSp=NP_061936.3:p.Lys283Glu;CSQ_HGVSg=2:g.42510018A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1227684;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30669;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.989961;CSQ_gnomADe_AC=243701;CSQ_gnomADe_AN=246074;CSQ_gnomADe_AF=0.990357;CSQ_gnomADe_Hom=120681;CSQ_COSMICcMuts=COSV59293461&COSV59293461&COSV59293461;CSQ_COSMICncMuts=COSV59293461&COSV59293461;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.197;CSQ_Mastermind_MMID3=EML4:K225E&EML4:K283E;CSQ_CADD_PHRED=22.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,113:113:1:65:-100:0.1374:9,45,7,17,9,26,9,45,7,17,9,26:100:100 +2 42515388 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=EML4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.1144A>G;CSQ_HGVSp=NP_061936.3:p.Ile382Val;CSQ_HGVSg=2:g.42515388A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27942;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.903745;CSQ_gnomADe_AC=191287;CSQ_gnomADe_AN=227008;CSQ_gnomADe_AF=0.842644;CSQ_gnomADe_Hom=82833;CSQ_COSMICcMuts=COSV59293527&COSV59293527&COSV59293527;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.165;CSQ_Mastermind_MMID3=EML4:I324V&EML4:I382V;CSQ_CADD_PHRED=19.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,83:94:0.88298:65:-100:0.0962:16,32,4,16,5,10,17,35,6,16,7,13:100:100 +2 42515437 . A G 100 PASS DP=98;CSQ_Allele=G;CSQ_SYMBOL=EML4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.1193A>G;CSQ_HGVSp=NP_061936.3:p.Lys398Arg;CSQ_HGVSg=2:g.42515437A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9182;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.297692;CSQ_gnomADe_AC=65431;CSQ_gnomADe_AN=235632;CSQ_gnomADe_AF=0.277683;CSQ_gnomADe_Hom=10591;CSQ_COSMICcMuts=COSV59293537&COSV59293537&COSV59293537;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=0.059;CSQ_Mastermind_MMID3=EML4:K340R&EML4:K398R;CSQ_CADD_PHRED=18.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,22:98:0.22449:65:-100:0.0667:5,5,3,6,1,2,16,37,12,13,3,17:100:100 +2 42558476 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=EML4;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.*1129C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.42558476C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3240;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.104882;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EML4:3UTR;CSQ_CADD_PHRED=1.290 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,20:118:0.16949:65:-100:0.1259:5,8,2,1,1,3,24,44,8,15,8,19:100:100 +2 42559256 . A C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=EML4;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.*1909A>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.42559256A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4587;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.148312;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EML4:3UTR;CSQ_CADD_PHRED=11.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,42:144:0.29167:65:-100:0.1273:9,10,1,11,2,9,28,43,7,26,8,32:100:100 +2 42559288 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=EML4;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_019063.5;CSQ_HGVSc=NM_019063.5:c.*1941A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.42559288A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6125;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.198182;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59304620;CSQ_COSMICncMuts=COSV59304620&COSV59304620&COSV59304620&COSV59304620;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EML4:3UTR;CSQ_CADD_PHRED=10.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,31:146:0.21233:65:-100:0.1205:4,16,1,3,2,5,19,55,12,25,11,24:100:100 +2 47601106 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=EPCAM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_002354.3;CSQ_HGVSc=NM_002354.3:c.344T>C;CSQ_HGVSp=NP_002345.2:p.Met115Thr;CSQ_HGVSg=2:g.47601106T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=183700;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome_1&Congenital_diarrhea_5_with_tufting_enteropathy&Hereditary_cancer-predisposing_syndrome&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified¬_provided;CSQ_gnomADg_AC=18629;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.60331;CSQ_gnomADe_AC=126143;CSQ_gnomADe_AN=246198;CSQ_gnomADe_AF=0.512364;CSQ_gnomADe_Hom=34881;CSQ_COSMICcMuts=COSV55392922&COSV55392922;CSQ_COSMICncMuts=COSV55392922;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.183;CSQ_Mastermind_MMID3=EPCAM:M115T;CSQ_CADD_PHRED=11.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,94:135:0.6963:65:-100:0.1718:13,38,5,16,7,15,19,47,10,25,14,20:100:100 +2 47702191 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=MSH2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_000251.3;CSQ_HGVSc=NM_000251.3:c.1787A>G;CSQ_HGVSp=NP_000242.1:p.Asn596Ser;CSQ_HGVSg=2:g.47702191A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41646;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(6)&Benign(3)&Likely_benign(6);CSQ_ClinVar_CLNDN=Lynch_syndrome&Lynch_syndrome_1&Muir-Torré_syndrome&Turcot_syndrome&Hereditary_cancer-predisposing_syndrome&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified&Colorectal_cancer&_non-polyposis¬_provided;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.000193761;CSQ_gnomADe_AC=76;CSQ_gnomADe_AN=246246;CSQ_gnomADe_AF=0.000308634;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.385;CSQ_Mastermind_MMID3=MSH2:N530S&MSH2:N596S;CSQ_CADD_PHRED=20.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,7:143:0.04895:65:-100:0.0892:1,3,0,1,1,1,21,45,16,21,11,29:84.154:100 +2 48018236 . G T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=MSH6;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_000179.3;CSQ_HGVSc=NM_000179.3:c.431G>T;CSQ_HGVSp=NP_000170.1:p.Ser144Ile;CSQ_HGVSg=2:g.48018236G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41596;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Endometrial_carcinoma&Carcinoma_of_colon&Lynch_syndrome&Colorectal_cancer&_hereditary_nonpolyposis&_type_5&Hereditary_cancer-predisposing_syndrome&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified&Breast_and/or_ovarian_cancer&Colorectal_cancer&_non-polyposis¬_provided;CSQ_gnomADg_AC=36;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00116242;CSQ_gnomADe_AC=239;CSQ_gnomADe_AN=246246;CSQ_gnomADe_AF=0.000970574;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52277295&COSV52277295&COSV52277295&COSV52277295;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.539;CSQ_Mastermind_MMID3=MSH6:5UTR&MSH6:S144I&MSH6:S79int&MSH6:S79inta;CSQ_CADD_PHRED=23.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,9:110:0.08182:65:-100:0.1667:3,1,3,1,1,0,22,28,12,20,7,21:100:100 +2 48018236 . G T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=MSH6;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_001281494.2;CSQ_HGVSc=NM_001281494.2:c.-472G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.48018236G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41596;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Endometrial_carcinoma&Carcinoma_of_colon&Lynch_syndrome&Colorectal_cancer&_hereditary_nonpolyposis&_type_5&Hereditary_cancer-predisposing_syndrome&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified&Breast_and/or_ovarian_cancer&Colorectal_cancer&_non-polyposis¬_provided;CSQ_gnomADg_AC=36;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00116242;CSQ_gnomADe_AC=239;CSQ_gnomADe_AN=246246;CSQ_gnomADe_AF=0.000970574;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52277295&COSV52277295&COSV52277295&COSV52277295;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,9:110:0.08182:65:-100:0.1667:3,1,3,1,1,0,22,28,12,20,7,21:100:100 +2 48023115 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=MSH6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_000179.3;CSQ_HGVSc=NM_000179.3:c.540T>C;CSQ_HGVSp=NP_000170.1:p.Asp180%3D;CSQ_HGVSg=2:g.48023115T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=36597;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Endometrial_carcinoma&Lynch_syndrome&Colorectal_cancer&_hereditary_nonpolyposis&_type_5&Hereditary_cancer-predisposing_syndrome&Mismatch_repair_cancer_syndrome_3&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified¬_provided;CSQ_gnomADg_AC=7050;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.228141;CSQ_gnomADe_AC=52613;CSQ_gnomADe_AN=246110;CSQ_gnomADe_AF=0.213778;CSQ_gnomADe_Hom=7023;CSQ_COSMICcMuts=COSV52274383&COSV52274383&COSV52274383&COSV52274383;CSQ_COSMICncMuts=COSV52274383&COSV52274383;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MSH6:5UTR&MSH6:5UTRint&MSH6:5UTRinta&MSH6:D180D&MSH6:S79int&MSH6:S79inta;CSQ_CADD_PHRED=10.13 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-99.7552:0.1462:2,4,2,1,0,0,15,41,9,18,8,20:100:100 +2 48023115 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=MSH6;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001281494.2;CSQ_HGVSc=NM_001281494.2:c.-363T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.48023115T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=36597;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Endometrial_carcinoma&Lynch_syndrome&Colorectal_cancer&_hereditary_nonpolyposis&_type_5&Hereditary_cancer-predisposing_syndrome&Mismatch_repair_cancer_syndrome_3&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified¬_provided;CSQ_gnomADg_AC=7050;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.228141;CSQ_gnomADe_AC=52613;CSQ_gnomADe_AN=246110;CSQ_gnomADe_AF=0.213778;CSQ_gnomADe_Hom=7023;CSQ_COSMICcMuts=COSV52274383&COSV52274383&COSV52274383&COSV52274383;CSQ_COSMICncMuts=COSV52274383&COSV52274383;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MSH6:5UTR&MSH6:5UTRint&MSH6:5UTRinta&MSH6:D180D&MSH6:S79int&MSH6:S79inta;CSQ_CADD_PHRED=10.13 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-99.7552:0.1462:2,4,2,1,0,0,15,41,9,18,8,20:100:100 +2 48027921 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=MSH6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_000179.3;CSQ_HGVSc=NM_000179.3:c.2799T>C;CSQ_HGVSp=NP_000170.1:p.Phe933%3D;CSQ_HGVSg=2:g.48027921T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245574;CSQ_gnomADe_AF=8.14418e-06;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,8:121:0.06612:65:-100:0.1655:1,3,1,2,1,0,24,50,7,13,10,17:100:100 +2 48027921 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=MSH6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001281494.2;CSQ_HGVSc=NM_001281494.2:c.1893T>C;CSQ_HGVSp=NP_001268423.1:p.Phe631%3D;CSQ_HGVSg=2:g.48027921T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245574;CSQ_gnomADe_AF=8.14418e-06;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,8:121:0.06612:65:-100:0.1655:1,3,1,2,1,0,24,50,7,13,10,17:100:100 +2 58388696 . A G 100 PASS DP=104;CSQ_Allele=G;CSQ_SYMBOL=FANCL;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/14;CSQ_INTRON=.;CSQ_Feature=NM_001114636.1;CSQ_HGVSc=NM_001114636.1:c.996T>C;CSQ_HGVSp=NP_001108108.1:p.Ser332%3D;CSQ_HGVSg=2:g.58388696A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257495;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_L&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=21535;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.697558;CSQ_gnomADe_AC=158013;CSQ_gnomADe_AN=245400;CSQ_gnomADe_AF=0.6439;CSQ_gnomADe_Hom=51698;CSQ_COSMICcMuts=COSV52073421&COSV52073421&COSV52073421&COSV52073421;CSQ_COSMICncMuts=COSV52073421&COSV52073421&COSV52073421&COSV52073421&COSV52073421&COSV52073421&COSV52073421&COSV52073421&COSV52073421&COSV52073421&COSV52073421;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCL:S327S&FANCL:S332S&FANCL:S342S;CSQ_CADD_PHRED=7.725 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,80:104:0.76923:65:-100:0.1111:13,32,5,11,5,14,16,39,7,14,8,20:100:100 +2 61711211 . C T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=XPO1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/25;CSQ_INTRON=.;CSQ_Feature=NM_003400.4;CSQ_HGVSc=NM_003400.4:c.2538G>A;CSQ_HGVSp=NP_003391.1:p.Thr846%3D;CSQ_HGVSg=2:g.61711211C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=775172;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=602;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0194507;CSQ_gnomADe_AC=1316;CSQ_gnomADe_AN=245926;CSQ_gnomADe_AF=0.0053512;CSQ_gnomADe_Hom=38;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.12;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=XPO1:T846T;CSQ_CADD_PHRED=8.876 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,13:103:0.12621:65:-100:0.1345:2,4,4,1,2,0,7,44,10,15,12,15:100:100 +2 99149946 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/26;CSQ_INTRON=.;CSQ_Feature=NM_001134224.2;CSQ_HGVSc=NM_001134224.2:c.258G>A;CSQ_HGVSp=NP_001127696.1:p.Thr86%3D;CSQ_HGVSg=2:g.99149946G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6582;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.212858;CSQ_gnomADe_AC=62129;CSQ_gnomADe_AN=245968;CSQ_gnomADe_AF=0.25259;CSQ_gnomADe_Hom=8351;CSQ_COSMICcMuts=COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4A:T86T;CSQ_CADD_PHRED=10.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,17:127:0.13386:65:-100:0.1361:4,4,2,2,3,2,25,40,14,16,14,18:100:100 +2 99149946 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/25;CSQ_INTRON=.;CSQ_Feature=NM_001134225.2;CSQ_HGVSc=NM_001134225.2:c.258G>A;CSQ_HGVSp=NP_001127697.1:p.Thr86%3D;CSQ_HGVSg=2:g.99149946G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6582;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.212858;CSQ_gnomADe_AC=62129;CSQ_gnomADe_AN=245968;CSQ_gnomADe_AF=0.25259;CSQ_gnomADe_Hom=8351;CSQ_COSMICcMuts=COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4A:T86T;CSQ_CADD_PHRED=10.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,17:127:0.13386:65:-100:0.1361:4,4,2,2,3,2,25,40,14,16,14,18:100:100 +2 99149946 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/26;CSQ_INTRON=.;CSQ_Feature=NM_001566.2;CSQ_HGVSc=NM_001566.2:c.258G>A;CSQ_HGVSp=NP_001557.1:p.Thr86%3D;CSQ_HGVSg=2:g.99149946G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6582;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.212858;CSQ_gnomADe_AC=62129;CSQ_gnomADe_AN=245968;CSQ_gnomADe_AF=0.25259;CSQ_gnomADe_Hom=8351;CSQ_COSMICcMuts=COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687&COSV50812687;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4A:T86T;CSQ_CADD_PHRED=10.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,17:127:0.13386:65:-100:0.1361:4,4,2,2,3,2,25,40,14,16,14,18:100:100 +2 99154426 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=INPP4A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/26;CSQ_INTRON=.;CSQ_Feature=NM_001134224.2;CSQ_HGVSc=NM_001134224.2:c.568G>A;CSQ_HGVSp=NP_001127696.1:p.Val190Ile;CSQ_HGVSg=2:g.99154426G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.027;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-47.9243:0.1702:2,3,1,0,0,0,19,47,6,17,12,16:76.204:100 +2 99154426 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=INPP4A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/25;CSQ_INTRON=.;CSQ_Feature=NM_001134225.2;CSQ_HGVSc=NM_001134225.2:c.568G>A;CSQ_HGVSp=NP_001127697.1:p.Val190Ile;CSQ_HGVSg=2:g.99154426G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.027;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-47.9243:0.1702:2,3,1,0,0,0,19,47,6,17,12,16:76.204:100 +2 99154426 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=INPP4A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/26;CSQ_INTRON=.;CSQ_Feature=NM_001566.2;CSQ_HGVSc=NM_001566.2:c.568G>A;CSQ_HGVSp=NP_001557.1:p.Val190Ile;CSQ_HGVSg=2:g.99154426G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933&COSV50811933;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.027;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-47.9243:0.1702:2,3,1,0,0,0,19,47,6,17,12,16:76.204:100 +2 99155998 . T C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/26;CSQ_INTRON=.;CSQ_Feature=NM_001134224.2;CSQ_HGVSc=NM_001134224.2:c.678T>C;CSQ_HGVSp=NP_001127696.1:p.Gly226%3D;CSQ_HGVSg=2:g.99155998T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=783335;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=708;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0228726;CSQ_gnomADe_AC=1430;CSQ_gnomADe_AN=243186;CSQ_gnomADe_AF=0.00588027;CSQ_gnomADe_Hom=54;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.031 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,16:116:0.13793:65:-100:0.1407:2,6,0,4,1,3,13,43,17,25,6,12:100:100 +2 99155998 . T C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/25;CSQ_INTRON=.;CSQ_Feature=NM_001134225.2;CSQ_HGVSc=NM_001134225.2:c.678T>C;CSQ_HGVSp=NP_001127697.1:p.Gly226%3D;CSQ_HGVSg=2:g.99155998T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=783335;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=708;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0228726;CSQ_gnomADe_AC=1430;CSQ_gnomADe_AN=243186;CSQ_gnomADe_AF=0.00588027;CSQ_gnomADe_Hom=54;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.031 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,16:116:0.13793:65:-100:0.1407:2,6,0,4,1,3,13,43,17,25,6,12:100:100 +2 99155998 . T C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/26;CSQ_INTRON=.;CSQ_Feature=NM_001566.2;CSQ_HGVSc=NM_001566.2:c.678T>C;CSQ_HGVSp=NP_001557.1:p.Gly226%3D;CSQ_HGVSg=2:g.99155998T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=783335;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=708;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0228726;CSQ_gnomADe_AC=1430;CSQ_gnomADe_AN=243186;CSQ_gnomADe_AF=0.00588027;CSQ_gnomADe_Hom=54;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.031 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,16:116:0.13793:65:-100:0.1407:2,6,0,4,1,3,13,43,17,25,6,12:100:100 +2 99172243 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/26;CSQ_INTRON=.;CSQ_Feature=NM_001134224.2;CSQ_HGVSc=NM_001134224.2:c.1809C>T;CSQ_HGVSp=NP_001127696.1:p.Ser603%3D;CSQ_HGVSg=2:g.99172243C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2392;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0772859;CSQ_gnomADe_AC=11776;CSQ_gnomADe_AN=176882;CSQ_gnomADe_AF=0.0665755;CSQ_gnomADe_Hom=701;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,11:160:0.06875:65:-100:0.1011:3,1,1,2,2,2,36,47,15,24,11,27:84.167:100 +2 99172243 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/25;CSQ_INTRON=.;CSQ_Feature=NM_001134225.2;CSQ_HGVSc=NM_001134225.2:c.1794C>T;CSQ_HGVSp=NP_001127697.1:p.Ser598%3D;CSQ_HGVSg=2:g.99172243C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2392;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0772859;CSQ_gnomADe_AC=11776;CSQ_gnomADe_AN=176882;CSQ_gnomADe_AF=0.0665755;CSQ_gnomADe_Hom=701;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,11:160:0.06875:65:-100:0.1011:3,1,1,2,2,2,36,47,15,24,11,27:84.167:100 +2 99172243 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=INPP4A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/25;CSQ_Feature=NM_001566.2;CSQ_HGVSc=NM_001566.2:c.1720+89C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.99172243C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2392;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0772859;CSQ_gnomADe_AC=11776;CSQ_gnomADe_AN=176882;CSQ_gnomADe_AF=0.0665755;CSQ_gnomADe_Hom=701;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4A:D575int;CSQ_CADD_PHRED=8.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,11:160:0.06875:65:-100:0.1011:3,1,1,2,2,2,36,47,15,24,11,27:84.167:100 +2 99172244 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=INPP4A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/26;CSQ_INTRON=.;CSQ_Feature=NM_001134224.2;CSQ_HGVSc=NM_001134224.2:c.1810A>G;CSQ_HGVSp=NP_001127696.1:p.Thr604Ala;CSQ_HGVSg=2:g.99172244A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7707;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.249337;CSQ_gnomADe_AC=46604;CSQ_gnomADe_AN=175300;CSQ_gnomADe_AF=0.265853;CSQ_gnomADe_Hom=6425;CSQ_COSMICcMuts=COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.16;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.049;CSQ_Mastermind_MMID3=INPP4A:D569int&INPP4A:D569intd&INPP4A:D574int&INPP4A:D574intd&INPP4A:D575int&INPP4A:D575intd&INPP4A:G569int&INPP4A:G569intd&INPP4A:T599A&INPP4A:T604A;CSQ_CADD_PHRED=9.259 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,46:159:0.28931:65:-100:0.1167:9,14,4,9,2,8,35,48,14,24,12,26:100:100 +2 99172244 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=INPP4A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/25;CSQ_INTRON=.;CSQ_Feature=NM_001134225.2;CSQ_HGVSc=NM_001134225.2:c.1795A>G;CSQ_HGVSp=NP_001127697.1:p.Thr599Ala;CSQ_HGVSg=2:g.99172244A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7707;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.249337;CSQ_gnomADe_AC=46604;CSQ_gnomADe_AN=175300;CSQ_gnomADe_AF=0.265853;CSQ_gnomADe_Hom=6425;CSQ_COSMICcMuts=COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.16;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.049;CSQ_Mastermind_MMID3=INPP4A:D569int&INPP4A:D569intd&INPP4A:D574int&INPP4A:D574intd&INPP4A:D575int&INPP4A:D575intd&INPP4A:G569int&INPP4A:G569intd&INPP4A:T599A&INPP4A:T604A;CSQ_CADD_PHRED=9.259 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,46:159:0.28931:65:-100:0.1167:9,14,4,9,2,8,35,48,14,24,12,26:100:100 +2 99172244 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=INPP4A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/25;CSQ_Feature=NM_001566.2;CSQ_HGVSc=NM_001566.2:c.1720+90A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.99172244A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7707;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.249337;CSQ_gnomADe_AC=46604;CSQ_gnomADe_AN=175300;CSQ_gnomADe_AF=0.265853;CSQ_gnomADe_Hom=6425;CSQ_COSMICcMuts=COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983&COSV50818983;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.16;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4A:D569int&INPP4A:D569intd&INPP4A:D574int&INPP4A:D574intd&INPP4A:D575int&INPP4A:D575intd&INPP4A:G569int&INPP4A:G569intd&INPP4A:T599A&INPP4A:T604A;CSQ_CADD_PHRED=9.259 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,46:159:0.28931:65:-100:0.1167:9,14,4,9,2,8,35,48,14,24,12,26:100:100 +2 99185096 . A G 100 PASS DP=169;CSQ_Allele=G;CSQ_SYMBOL=INPP4A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/26;CSQ_INTRON=.;CSQ_Feature=NM_001134224.2;CSQ_HGVSc=NM_001134224.2:c.2498A>G;CSQ_HGVSp=NP_001127696.1:p.Tyr833Cys;CSQ_HGVSg=2:g.99185096A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.766;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,20:169:0.11834:65:-100:0.0963:5,8,2,1,3,1,31,54,19,32,11,22:100:100 +2 99185096 . A G 100 PASS DP=169;CSQ_Allele=G;CSQ_SYMBOL=INPP4A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/25;CSQ_INTRON=.;CSQ_Feature=NM_001134225.2;CSQ_HGVSc=NM_001134225.2:c.2483A>G;CSQ_HGVSp=NP_001127697.1:p.Tyr828Cys;CSQ_HGVSg=2:g.99185096A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.766;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,20:169:0.11834:65:-100:0.0963:5,8,2,1,3,1,31,54,19,32,11,22:100:100 +2 99185096 . A G 100 PASS DP=169;CSQ_Allele=G;CSQ_SYMBOL=INPP4A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/26;CSQ_INTRON=.;CSQ_Feature=NM_001566.2;CSQ_HGVSc=NM_001566.2:c.2381A>G;CSQ_HGVSp=NP_001557.1:p.Tyr794Cys;CSQ_HGVSg=2:g.99185096A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.766;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,20:169:0.11834:65:-100:0.0963:5,8,2,1,3,1,31,54,19,32,11,22:100:100 +2 99193496 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/26;CSQ_INTRON=.;CSQ_Feature=NM_001134224.2;CSQ_HGVSc=NM_001134224.2:c.2691C>T;CSQ_HGVSp=NP_001127696.1:p.Ser897%3D;CSQ_HGVSg=2:g.99193496C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7079;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.229391;CSQ_gnomADe_AC=63680;CSQ_gnomADe_AN=245576;CSQ_gnomADe_AF=0.259309;CSQ_gnomADe_Hom=8636;CSQ_COSMICcMuts=COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4A:S842S&INPP4A:S853S&INPP4A:S858S&INPP4A:S859S&INPP4A:S892S&INPP4A:S897S;CSQ_CADD_PHRED=9.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,32:127:0.25197:65:-100:0.1753:5,14,1,8,1,3,18,57,10,23,3,16:100:100 +2 99193496 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/25;CSQ_INTRON=.;CSQ_Feature=NM_001134225.2;CSQ_HGVSc=NM_001134225.2:c.2676C>T;CSQ_HGVSp=NP_001127697.1:p.Ser892%3D;CSQ_HGVSg=2:g.99193496C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7079;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.229391;CSQ_gnomADe_AC=63680;CSQ_gnomADe_AN=245576;CSQ_gnomADe_AF=0.259309;CSQ_gnomADe_Hom=8636;CSQ_COSMICcMuts=COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4A:S842S&INPP4A:S853S&INPP4A:S858S&INPP4A:S859S&INPP4A:S892S&INPP4A:S897S;CSQ_CADD_PHRED=9.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,32:127:0.25197:65:-100:0.1753:5,14,1,8,1,3,18,57,10,23,3,16:100:100 +2 99193496 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=INPP4A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/26;CSQ_INTRON=.;CSQ_Feature=NM_001566.2;CSQ_HGVSc=NM_001566.2:c.2574C>T;CSQ_HGVSp=NP_001557.1:p.Ser858%3D;CSQ_HGVSg=2:g.99193496C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7079;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.229391;CSQ_gnomADe_AC=63680;CSQ_gnomADe_AN=245576;CSQ_gnomADe_AF=0.259309;CSQ_gnomADe_Hom=8636;CSQ_COSMICcMuts=COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142&COSV50785142;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4A:S842S&INPP4A:S853S&INPP4A:S858S&INPP4A:S859S&INPP4A:S892S&INPP4A:S897S;CSQ_CADD_PHRED=9.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,32:127:0.25197:65:-100:0.1753:5,14,1,8,1,3,18,57,10,23,3,16:100:100 +2 109379761 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=RANBP2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/29;CSQ_INTRON=.;CSQ_Feature=NM_006267.5;CSQ_HGVSc=NM_006267.5:c.2766C>T;CSQ_HGVSp=NP_006258.3:p.His922%3D;CSQ_HGVSg=2:g.109379761C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1132361;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_acute_necrotizing_encephalopathy;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99313568;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,6:147:0.04082:65:-96.4889:0.16:3,1,0,0,1,1,20,51,14,25,8,29:64.878:100 +2 109381438 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=RANBP2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/29;CSQ_INTRON=.;CSQ_Feature=NM_006267.5;CSQ_HGVSc=NM_006267.5:c.4443A>G;CSQ_HGVSp=NP_006258.3:p.Gly1481%3D;CSQ_HGVSg=2:g.109381438A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=380048;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_acute_necrotizing_encephalopathy¬_specified;CSQ_gnomADg_AC=1451;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0468488;CSQ_gnomADe_AC=14411;CSQ_gnomADe_AN=245776;CSQ_gnomADe_AF=0.0586347;CSQ_gnomADe_Hom=647;CSQ_COSMICcMuts=COSV51698293;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RANBP2:G1481G;CSQ_CADD_PHRED=8.804 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,6:121:0.04959:65:-100:0.1103:0,5,0,0,0,1,10,45,12,29,7,18:61.763:100 +2 109389463 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=RANBP2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/29;CSQ_INTRON=.;CSQ_Feature=NM_006267.5;CSQ_HGVSc=NM_006267.5:c.8253G>A;CSQ_HGVSp=NP_006258.3:p.Glu2751%3D;CSQ_HGVSg=2:g.109389463G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169866;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_acute_necrotizing_encephalopathy;CSQ_gnomADg_AC=30624;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.988381;CSQ_gnomADe_AC=244908;CSQ_gnomADe_AN=245660;CSQ_gnomADe_AF=0.996939;CSQ_gnomADe_Hom=122099;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RANBP2:E2751E;CSQ_CADD_PHRED=9.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,117:117:1:65:-100:0.1203:15,40,3,23,15,21,15,40,3,23,15,21:100:100 +2 111883020 . GAAGT G 100 PASS DP=106;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204106.2;CSQ_HGVSc=NM_001204106.2:c.124+1579_124+1582del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883025_111883028del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=484;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.015627;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,10:106:0.09434:65:-100:0:1,4,0,4,1,0,13,52,3,17,5,13:100:100 +2 111883020 . GAAGT G 100 PASS DP=106;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_001204107.1;CSQ_HGVSc=NM_001204107.1:c.124+1579_124+1582del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883025_111883028del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=484;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.015627;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,10:106:0.09434:65:-100:0:1,4,0,4,1,0,13,52,3,17,5,13:100:100 +2 111883020 . 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GAAGT G 100 PASS DP=106;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_207002.3;CSQ_HGVSc=NM_207002.3:c.214+1309_214+1312del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883025_111883028del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=484;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.015627;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,10:106:0.09434:65:-100:0:1,4,0,4,1,0,13,52,3,17,5,13:100:100 +2 111883332 . 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T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_001204107.1;CSQ_HGVSc=NM_001204107.1:c.124+1886T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883332T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0179968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,19:142:0.1338:65:-100:0.1446:5,6,1,3,2,2,22,47,10,30,16,17:100:100 +2 111883332 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001204108.1;CSQ_HGVSc=NM_001204108.1:c.394+1616T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883332T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0179968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,19:142:0.1338:65:-100:0.1446:5,6,1,3,2,2,22,47,10,30,16,17:100:100 +2 111883332 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204109.2;CSQ_HGVSc=NM_001204109.2:c.394+1616T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883332T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0179968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,19:142:0.1338:65:-100:0.1446:5,6,1,3,2,2,22,47,10,30,16,17:100:100 +2 111883332 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/5;CSQ_Feature=NM_001204113.1;CSQ_HGVSc=NM_001204113.1:c.214+1616T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883332T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0179968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,19:142:0.1338:65:-100:0.1446:5,6,1,3,2,2,22,47,10,30,16,17:100:100 +2 111883332 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_138621.5;CSQ_HGVSc=NM_138621.5:c.394+1616T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883332T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0179968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,19:142:0.1338:65:-100:0.1446:5,6,1,3,2,2,22,47,10,30,16,17:100:100 +2 111883332 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_138624.4;CSQ_HGVSc=NM_138624.4:c.394+1616T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883332T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0179968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,19:142:0.1338:65:-100:0.1446:5,6,1,3,2,2,22,47,10,30,16,17:100:100 +2 111883332 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_138625.4;CSQ_HGVSc=NM_138625.4:c.124+1886T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883332T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0179968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,19:142:0.1338:65:-100:0.1446:5,6,1,3,2,2,22,47,10,30,16,17:100:100 +2 111883332 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_207002.3;CSQ_HGVSc=NM_207002.3:c.214+1616T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883332T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0179968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,19:142:0.1338:65:-100:0.1446:5,6,1,3,2,2,22,47,10,30,16,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204106.2;CSQ_HGVSc=NM_001204106.2:c.124+2123del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_001204107.1;CSQ_HGVSc=NM_001204107.1:c.124+2123del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001204108.1;CSQ_HGVSc=NM_001204108.1:c.394+1853del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204109.2;CSQ_HGVSc=NM_001204109.2:c.394+1853del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/5;CSQ_Feature=NM_001204113.1;CSQ_HGVSc=NM_001204113.1:c.214+1853del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_138621.5;CSQ_HGVSc=NM_138621.5:c.394+1853del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_138624.4;CSQ_HGVSc=NM_138624.4:c.394+1853del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_138625.4;CSQ_HGVSc=NM_138625.4:c.124+2123del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883568 . AC A 100 PASS DP=135;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_207002.3;CSQ_HGVSc=NM_207002.3:c.214+1853del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883569del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0:3,7,1,5,0,2,28,40,13,28,9,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204106.2;CSQ_HGVSc=NM_001204106.2:c.124+2358del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_001204107.1;CSQ_HGVSc=NM_001204107.1:c.124+2358del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001204108.1;CSQ_HGVSc=NM_001204108.1:c.394+2088del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204109.2;CSQ_HGVSc=NM_001204109.2:c.394+2088del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/5;CSQ_Feature=NM_001204113.1;CSQ_HGVSc=NM_001204113.1:c.214+2088del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_138621.5;CSQ_HGVSc=NM_138621.5:c.394+2088del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_138624.4;CSQ_HGVSc=NM_138624.4:c.394+2088del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_138625.4;CSQ_HGVSc=NM_138625.4:c.124+2358del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111883797 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_207002.3;CSQ_HGVSc=NM_207002.3:c.214+2088del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111883804del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0:2,5,1,4,1,3,17,44,13,28,7,17:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204106.2;CSQ_HGVSc=NM_001204106.2:c.124+4886C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:A132int&BCL2L11:A132intd&BCL2L11:A42int&BCL2L11:A42intd&BCL2L11:A72int&BCL2L11:A72intd&BCL2L11:D72int&BCL2L11:D72intd&BCL2L11:G132int&BCL2L11:G132intd&BCL2L11:G42int&BCL2L11:G42intd&BCL2L11:G72int&BCL2L11:G72intd&BCL2L11:V132int&BCL2L11:V132intd&BCL2L11:V42int&BCL2L11:V42inta&BCL2L11:V72int&BCL2L11:V72intd;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_001204107.1;CSQ_HGVSc=NM_001204107.1:c.124+4886C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:A132int&BCL2L11:A132intd&BCL2L11:A42int&BCL2L11:A42intd&BCL2L11:A72int&BCL2L11:A72intd&BCL2L11:D72int&BCL2L11:D72intd&BCL2L11:G132int&BCL2L11:G132intd&BCL2L11:G42int&BCL2L11:G42intd&BCL2L11:G72int&BCL2L11:G72intd&BCL2L11:V132int&BCL2L11:V132intd&BCL2L11:V42int&BCL2L11:V42inta&BCL2L11:V72int&BCL2L11:V72intd;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001204108.1;CSQ_HGVSc=NM_001204108.1:c.394+4616C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:A132int&BCL2L11:A132intd&BCL2L11:A42int&BCL2L11:A42intd&BCL2L11:A72int&BCL2L11:A72intd&BCL2L11:D72int&BCL2L11:D72intd&BCL2L11:G132int&BCL2L11:G132intd&BCL2L11:G42int&BCL2L11:G42intd&BCL2L11:G72int&BCL2L11:G72intd&BCL2L11:V132int&BCL2L11:V132intd&BCL2L11:V42int&BCL2L11:V42inta&BCL2L11:V72int&BCL2L11:V72intd;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204109.2;CSQ_HGVSc=NM_001204109.2:c.394+4616C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:A132int&BCL2L11:A132intd&BCL2L11:A42int&BCL2L11:A42intd&BCL2L11:A72int&BCL2L11:A72intd&BCL2L11:D72int&BCL2L11:D72intd&BCL2L11:G132int&BCL2L11:G132intd&BCL2L11:G42int&BCL2L11:G42intd&BCL2L11:G72int&BCL2L11:G72intd&BCL2L11:V132int&BCL2L11:V132intd&BCL2L11:V42int&BCL2L11:V42inta&BCL2L11:V72int&BCL2L11:V72intd;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/5;CSQ_Feature=NM_001204113.1;CSQ_HGVSc=NM_001204113.1:c.214+4616C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:A132int&BCL2L11:A132intd&BCL2L11:A42int&BCL2L11:A42intd&BCL2L11:A72int&BCL2L11:A72intd&BCL2L11:D72int&BCL2L11:D72intd&BCL2L11:G132int&BCL2L11:G132intd&BCL2L11:G42int&BCL2L11:G42intd&BCL2L11:G72int&BCL2L11:G72intd&BCL2L11:V132int&BCL2L11:V132intd&BCL2L11:V42int&BCL2L11:V42inta&BCL2L11:V72int&BCL2L11:V72intd;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_138621.5;CSQ_HGVSc=NM_138621.5:c.394+4616C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:A132int&BCL2L11:A132intd&BCL2L11:A42int&BCL2L11:A42intd&BCL2L11:A72int&BCL2L11:A72intd&BCL2L11:D72int&BCL2L11:D72intd&BCL2L11:G132int&BCL2L11:G132intd&BCL2L11:G42int&BCL2L11:G42intd&BCL2L11:G72int&BCL2L11:G72intd&BCL2L11:V132int&BCL2L11:V132intd&BCL2L11:V42int&BCL2L11:V42inta&BCL2L11:V72int&BCL2L11:V72intd;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_138624.4;CSQ_HGVSc=NM_138624.4:c.394+4616C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:A132int&BCL2L11:A132intd&BCL2L11:A42int&BCL2L11:A42intd&BCL2L11:A72int&BCL2L11:A72intd&BCL2L11:D72int&BCL2L11:D72intd&BCL2L11:G132int&BCL2L11:G132intd&BCL2L11:G42int&BCL2L11:G42intd&BCL2L11:G72int&BCL2L11:G72intd&BCL2L11:V132int&BCL2L11:V132intd&BCL2L11:V42int&BCL2L11:V42inta&BCL2L11:V72int&BCL2L11:V72intd;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_138625.4;CSQ_HGVSc=NM_138625.4:c.125-1377C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:A132int&BCL2L11:A132intd&BCL2L11:A42int&BCL2L11:A42intd&BCL2L11:A72int&BCL2L11:A72intd&BCL2L11:D72int&BCL2L11:D72intd&BCL2L11:G132int&BCL2L11:G132intd&BCL2L11:G42int&BCL2L11:G42intd&BCL2L11:G72int&BCL2L11:G72intd&BCL2L11:V132int&BCL2L11:V132intd&BCL2L11:V42int&BCL2L11:V42inta&BCL2L11:V72int&BCL2L11:V72intd;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111886332 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_207002.3;CSQ_HGVSc=NM_207002.3:c.*4C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111886332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8023;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.259779;CSQ_gnomADe_AC=32916;CSQ_gnomADe_AN=140196;CSQ_gnomADe_AF=0.234786;CSQ_gnomADe_Hom=4276;CSQ_COSMICcMuts=COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793&COSV58029793;CSQ_COSMICncMuts=COSV58029793&COSV58029793;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:0,5,1,3,1,2,12,40,9,23,7,18:100:100 +2 111907691 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_001204106.2;CSQ_HGVSc=NM_001204106.2:c.195T>C;CSQ_HGVSp=NP_001191035.1:p.Ile65%3D;CSQ_HGVSg=2:g.111907691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21940;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.709481;CSQ_gnomADe_AC=158117;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.643139;CSQ_gnomADe_Hom=52591;CSQ_COSMICcMuts=COSV58033046&COSV58033046&COSV58033046&COSV58033046;CSQ_COSMICncMuts=COSV58033046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:G132int&BCL2L11:G132inta&BCL2L11:G42int&BCL2L11:G42inta&BCL2L11:G72int&BCL2L11:G72inta&BCL2L11:I155I&BCL2L11:I65I&BCL2L11:I95I&BCL2L11:V132int&BCL2L11:V132inta&BCL2L11:V72int&BCL2L11:V72inta;CSQ_CADD_PHRED=8.912 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1282:11,18,7,14,7,12,19,42,16,23,14,22:100:100 +2 111907691 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_001204107.1;CSQ_HGVSc=NM_001204107.1:c.195T>C;CSQ_HGVSp=NP_001191036.1:p.Ile65%3D;CSQ_HGVSg=2:g.111907691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21940;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.709481;CSQ_gnomADe_AC=158117;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.643139;CSQ_gnomADe_Hom=52591;CSQ_COSMICcMuts=COSV58033046&COSV58033046&COSV58033046&COSV58033046;CSQ_COSMICncMuts=COSV58033046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:G132int&BCL2L11:G132inta&BCL2L11:G42int&BCL2L11:G42inta&BCL2L11:G72int&BCL2L11:G72inta&BCL2L11:I155I&BCL2L11:I65I&BCL2L11:I95I&BCL2L11:V132int&BCL2L11:V132inta&BCL2L11:V72int&BCL2L11:V72inta;CSQ_CADD_PHRED=8.912 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1282:11,18,7,14,7,12,19,42,16,23,14,22:100:100 +2 111907691 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/5;CSQ_INTRON=.;CSQ_Feature=NM_001204108.1;CSQ_HGVSc=NM_001204108.1:c.465T>C;CSQ_HGVSp=NP_001191037.1:p.Ile155%3D;CSQ_HGVSg=2:g.111907691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21940;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.709481;CSQ_gnomADe_AC=158117;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.643139;CSQ_gnomADe_Hom=52591;CSQ_COSMICcMuts=COSV58033046&COSV58033046&COSV58033046&COSV58033046;CSQ_COSMICncMuts=COSV58033046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:G132int&BCL2L11:G132inta&BCL2L11:G42int&BCL2L11:G42inta&BCL2L11:G72int&BCL2L11:G72inta&BCL2L11:I155I&BCL2L11:I65I&BCL2L11:I95I&BCL2L11:V132int&BCL2L11:V132inta&BCL2L11:V72int&BCL2L11:V72inta;CSQ_CADD_PHRED=8.912 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1282:11,18,7,14,7,12,19,42,16,23,14,22:100:100 +2 111907691 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001204109.2;CSQ_HGVSc=NM_001204109.2:c.395-3666T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111907691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21940;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.709481;CSQ_gnomADe_AC=158117;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.643139;CSQ_gnomADe_Hom=52591;CSQ_COSMICcMuts=COSV58033046&COSV58033046&COSV58033046&COSV58033046;CSQ_COSMICncMuts=COSV58033046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:G132int&BCL2L11:G132inta&BCL2L11:G42int&BCL2L11:G42inta&BCL2L11:G72int&BCL2L11:G72inta&BCL2L11:I155I&BCL2L11:I65I&BCL2L11:I95I&BCL2L11:V132int&BCL2L11:V132inta&BCL2L11:V72int&BCL2L11:V72inta;CSQ_CADD_PHRED=8.912 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1282:11,18,7,14,7,12,19,42,16,23,14,22:100:100 +2 111907691 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001204113.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111907691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21940;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.709481;CSQ_gnomADe_AC=158117;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.643139;CSQ_gnomADe_Hom=52591;CSQ_COSMICcMuts=COSV58033046&COSV58033046&COSV58033046&COSV58033046;CSQ_COSMICncMuts=COSV58033046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.912 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1282:11,18,7,14,7,12,19,42,16,23,14,22:100:100 +2 111907691 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_138621.5;CSQ_HGVSc=NM_138621.5:c.465T>C;CSQ_HGVSp=NP_619527.1:p.Ile155%3D;CSQ_HGVSg=2:g.111907691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21940;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.709481;CSQ_gnomADe_AC=158117;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.643139;CSQ_gnomADe_Hom=52591;CSQ_COSMICcMuts=COSV58033046&COSV58033046&COSV58033046&COSV58033046;CSQ_COSMICncMuts=COSV58033046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L11:3UTR&BCL2L11:G132int&BCL2L11:G132inta&BCL2L11:G42int&BCL2L11:G42inta&BCL2L11:G72int&BCL2L11:G72inta&BCL2L11:I155I&BCL2L11:I65I&BCL2L11:I95I&BCL2L11:V132int&BCL2L11:V132inta&BCL2L11:V72int&BCL2L11:V72inta;CSQ_CADD_PHRED=8.912 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1282:11,18,7,14,7,12,19,42,16,23,14,22:100:100 +2 111907691 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/5;CSQ_INTRON=.;CSQ_Feature=NM_138624.4;CSQ_HGVSc=NM_138624.4:c.*90T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111907691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21940;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.709481;CSQ_gnomADe_AC=158117;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.643139;CSQ_gnomADe_Hom=52591;CSQ_COSMICcMuts=COSV58033046&COSV58033046&COSV58033046&COSV58033046;CSQ_COSMICncMuts=COSV58033046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.912 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1282:11,18,7,14,7,12,19,42,16,23,14,22:100:100 +2 111907691 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/5;CSQ_INTRON=.;CSQ_Feature=NM_138625.4;CSQ_HGVSc=NM_138625.4:c.*83T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111907691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21940;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.709481;CSQ_gnomADe_AC=158117;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.643139;CSQ_gnomADe_Hom=52591;CSQ_COSMICcMuts=COSV58033046&COSV58033046&COSV58033046&COSV58033046;CSQ_COSMICncMuts=COSV58033046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.912 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,69:136:0.50735:65:-100:0.1282:11,18,7,14,7,12,19,42,16,23,14,22:100:100 +2 111918994 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_001204106.2;CSQ_HGVSc=NM_001204106.2:c.229-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111918994A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1242068;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=680;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.021961;CSQ_gnomADe_AC=627;CSQ_gnomADe_AN=143622;CSQ_gnomADe_AF=0.00436563;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-97.1625:0.1274:1,4,0,0,3,5,22,47,14,20,15,19:100:100 +2 111918994 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001204107.1;CSQ_HGVSc=NM_001204107.1:c.*168-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111918994A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1242068;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=680;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.021961;CSQ_gnomADe_AC=627;CSQ_gnomADe_AN=143622;CSQ_gnomADe_AF=0.00436563;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-97.1625:0.1274:1,4,0,0,3,5,22,47,14,20,15,19:100:100 +2 111918994 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=splice_acceptor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_001204108.1;CSQ_HGVSc=NM_001204108.1:c.499-2A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111918994A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1242068;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=680;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.021961;CSQ_gnomADe_AC=627;CSQ_gnomADe_AN=143622;CSQ_gnomADe_AF=0.00436563;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-97.1625:0.1274:1,4,0,0,3,5,22,47,14,20,15,19:100:100 +2 111918994 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_001204109.2;CSQ_HGVSc=NM_001204109.2:c.*97-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111918994A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1242068;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=680;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.021961;CSQ_gnomADe_AC=627;CSQ_gnomADe_AN=143622;CSQ_gnomADe_AF=0.00436563;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-97.1625:0.1274:1,4,0,0,3,5,22,47,14,20,15,19:100:100 +2 111918994 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_138621.5;CSQ_HGVSc=NM_138621.5:c.499-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111918994A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1242068;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=680;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.021961;CSQ_gnomADe_AC=627;CSQ_gnomADe_AN=143622;CSQ_gnomADe_AF=0.00436563;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-97.1625:0.1274:1,4,0,0,3,5,22,47,14,20,15,19:100:100 +2 111918994 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_138624.4;CSQ_HGVSc=NM_138624.4:c.*124-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111918994A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1242068;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=680;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.021961;CSQ_gnomADe_AC=627;CSQ_gnomADe_AN=143622;CSQ_gnomADe_AF=0.00436563;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-97.1625:0.1274:1,4,0,0,3,5,22,47,14,20,15,19:100:100 +2 111918994 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=BCL2L11;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_138625.4;CSQ_HGVSc=NM_138625.4:c.*117-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.111918994A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1242068;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=680;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.021961;CSQ_gnomADe_AC=627;CSQ_gnomADe_AN=143622;CSQ_gnomADe_AF=0.00436563;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-97.1625:0.1274:1,4,0,0,3,5,22,47,14,20,15,19:100:100 +2 113977862 . T G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-107A>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113977862T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1271887;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30669;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.99169;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.799 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,136:136:1:65:-100:0.1447:17,55,7,23,15,19,17,55,7,23,15,19:100:100 +2 113977862 . T G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-107A>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113977862T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1271887;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30669;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.99169;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.799 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,136:136:1:65:-100:0.1447:17,55,7,23,15,19,17,55,7,23,15,19:100:100 +2 113977936 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-181G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113977936C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1264919;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12300;CSQ_gnomADg_AN=30804;CSQ_gnomADg_AF=0.399299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=3.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,63:142:0.44366:65:-100:0.1696:5,25,10,6,4,13,20,57,15,10,12,28:100:100 +2 113977936 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-181G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113977936C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1264919;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12300;CSQ_gnomADg_AN=30804;CSQ_gnomADg_AF=0.399299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=3.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,63:142:0.44366:65:-100:0.1696:5,25,10,6,4,13,20,57,15,10,12,28:100:100 +2 113978183 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-428T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113978183A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1493;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.0483422;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.246 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,17:135:0.12593:65:-100:0.1176:0,3,3,3,2,6,17,49,15,21,12,21:100:100 +2 113978183 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-428T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113978183A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1493;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.0483422;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.246 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,17:135:0.12593:65:-100:0.1176:0,3,3,3,2,6,17,49,15,21,12,21:100:100 +2 113978650 . C T 100 PASS DP=113;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-895G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113978650C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11076;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.358772;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=3.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,40:113:0.35398:65:-100:0.1032:7,13,1,4,7,8,17,41,6,11,12,26:100:100 +2 113978650 . C T 100 PASS DP=113;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-895G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113978650C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11076;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.358772;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=3.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,40:113:0.35398:65:-100:0.1032:7,13,1,4,7,8,17,41,6,11,12,26:100:100 +2 113978906 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-1151G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113978906C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1407;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0454457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.610 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,16:128:0.125:65:-100:0.1688:3,6,1,2,0,4,20,46,9,21,8,24:100:100 +2 113978906 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-1151G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113978906C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1407;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0454457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.610 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,16:128:0.125:65:-100:0.1688:3,6,1,2,0,4,20,46,9,21,8,24:100:100 +2 113978940 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-1185G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113978940C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11088;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.359021;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.18;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=0.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,43:123:0.34959:65:-100:0.1745:9,17,1,6,2,8,25,49,5,20,6,18:100:100 +2 113978940 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-1185G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113978940C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11088;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.359021;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.18;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=0.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,43:123:0.34959:65:-100:0.1745:9,17,1,6,2,8,25,49,5,20,6,18:100:100 +2 113979160 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-1405T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113979160A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5346;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.172831;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=1.476 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,34:126:0.26984:65:-100:0.1189:5,8,0,4,8,9,19,48,5,17,14,23:100:100 +2 113979160 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-1405T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113979160A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5346;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.172831;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=1.476 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,34:126:0.26984:65:-100:0.1189:5,8,0,4,8,9,19,48,5,17,14,23:100:100 +2 113979446 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-1691G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113979446C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1489;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.0483065;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.866 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,10:121:0.08264:65:-100:0.1037:1,5,0,1,2,1,22,41,12,26,9,11:100:100 +2 113979446 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-1691G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113979446C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1489;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.0483065;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.866 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,10:121:0.08264:65:-100:0.1037:1,5,0,1,2,1,22,41,12,26,9,11:100:100 +2 113979508 . TA T 100 PASS DP=131;CSQ_Allele=-;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-1754del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113979515del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,18:131:0.1374:65:-100:0:3,5,2,4,2,2,25,35,20,17,14,20:100:100 +2 113979508 . TA T 100 PASS DP=131;CSQ_Allele=-;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-1754del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113979515del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,18:131:0.1374:65:-100:0:3,5,2,4,2,2,25,35,20,17,14,20:100:100 +2 113979580 . T A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-1825A>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113979580T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1495;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0483068;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.246 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,13:115:0.11304:65:-100:0.1353:3,4,0,1,4,1,25,34,9,13,16,18:100:100 +2 113979580 . T A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-1825A>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113979580T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1495;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0483068;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.246 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,13:115:0.11304:65:-100:0.1353:3,4,0,1,4,1,25,34,9,13,16,18:100:100 +2 113980189 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-2434C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113980189G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1416;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0457719;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.058 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,12:166:0.07229:65:-100:0.1782:1,2,4,1,1,3,27,55,22,25,14,23:100:100 +2 113980189 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-2434C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113980189G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1416;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0457719;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.058 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,12:166:0.07229:65:-100:0.1782:1,2,4,1,1,3,27,55,22,25,14,23:100:100 +2 113980645 . C G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-2890G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113980645C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5511;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.178223;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=4.598 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,25:125:0.2:65:-100:0.1197:5,8,3,5,0,4,19,42,11,27,7,19:100:100 +2 113980645 . C G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-2890G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113980645C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5511;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.178223;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=4.598 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,25:125:0.2:65:-100:0.1197:5,8,3,5,0,4,19,42,11,27,7,19:100:100 +2 113980736 . C T 100 PASS DP=114;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-2981G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113980736C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3858;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.125008;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=2.534 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,10:114:0.08772:65:-100:0.1556:2,3,0,2,2,1,18,48,8,14,11,15:100:100 +2 113980736 . C T 100 PASS DP=114;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-2981G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113980736C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3858;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.125008;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=2.534 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,10:114:0.08772:65:-100:0.1556:2,3,0,2,2,1,18,48,8,14,11,15:100:100 +2 113981022 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-3267C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113981022G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11077;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.358479;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=4.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,57:132:0.43182:65:-100:0.1316:7,21,3,11,5,10,16,44,15,27,10,20:100:100 +2 113981022 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-3267C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113981022G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11077;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.358479;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=4.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,57:132:0.43182:65:-100:0.1316:7,21,3,11,5,10,16,44,15,27,10,20:100:100 +2 113981137 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1190-3382A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113981137T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11672;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.378151;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=13.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,57:140:0.40714:65:-100:0.1566:3,21,1,13,4,15,13,47,13,24,13,30:100:100 +2 113981137 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1111-3382A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113981137T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11672;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.378151;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293inta&PAX8:Q370int&PAX8:Q370inta;CSQ_CADD_PHRED=13.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,57:140:0.40714:65:-100:0.1566:3,21,1,13,4,15,13,47,13,24,13,30:100:100 +2 113981265 . C A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+3467G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113981265C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-100:0.1218:1,4,2,2,1,3,22,41,14,18,14,28:100:100 +2 113981265 . C A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+3467G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113981265C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-100:0.1218:1,4,2,2,1,3,22,41,14,18,14,28:100:100 +2 113981810 . A G 100 PASS DP=155;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+2922T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113981810A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17501;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.568214;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=3.225 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,109:155:0.70323:65:-100:0.1243:21,36,14,15,10,13,29,46,16,24,14,26:100:100 +2 113981810 . A G 100 PASS DP=155;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+2922T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113981810A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17501;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.568214;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=3.225 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,109:155:0.70323:65:-100:0.1243:21,36,14,15,10,13,29,46,16,24,14,26:100:100 +2 113982584 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+2148A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113982584T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11599;CSQ_gnomADg_AN=30738;CSQ_gnomADg_AF=0.377351;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=4.079 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,55:128:0.42969:65:-100:0.1634:10,23,1,11,2,8,20,54,7,23,6,18:100:100 +2 113982584 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+2148A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113982584T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11599;CSQ_gnomADg_AN=30738;CSQ_gnomADg_AF=0.377351;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=4.079 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,55:128:0.42969:65:-100:0.1634:10,23,1,11,2,8,20,54,7,23,6,18:100:100 +2 113982608 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+2124C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113982608G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5467;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.177304;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=1.671 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,23:139:0.16547:65:-100:0.1524:5,11,0,3,1,3,22,66,6,21,5,19:100:100 +2 113982608 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+2124C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113982608G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5467;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.177304;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=1.671 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,23:139:0.16547:65:-100:0.1524:5,11,0,3,1,3,22,66,6,21,5,19:100:100 +2 113983115 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+1617G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113983115C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.500 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,7:112:0.0625:65:-48.0103:0.1385:0,3,2,1,0,1,15,50,9,14,8,16:84.627:100 +2 113983115 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+1617G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113983115C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.500 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,7:112:0.0625:65:-48.0103:0.1385:0,3,2,1,0,1,15,50,9,14,8,16:84.627:100 +2 113983937 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+795A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113983937T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5547;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.179561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=4.047 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,29:145:0.2:65:-100:0.1317:4,14,2,3,2,4,17,61,7,30,10,20:100:100 +2 113983937 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+795A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113983937T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5547;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.179561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=4.047 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,29:145:0.2:65:-100:0.1317:4,14,2,3,2,4,17,61,7,30,10,20:100:100 +2 113984033 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+699C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984033G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12321;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.399074;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=4.478 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,55:145:0.37931:65:-100:0.0994:11,18,7,12,0,7,25,60,17,21,6,16:100:100 +2 113984033 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+699C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984033G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12321;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.399074;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=4.478 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,55:145:0.37931:65:-100:0.0994:11,18,7,12,0,7,25,60,17,21,6,16:100:100 +2 113984303 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+429A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984303T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11644;CSQ_gnomADg_AN=30798;CSQ_gnomADg_AF=0.378076;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105840654&COSV105840654&COSV105840654&COSV105840654&COSV105840654;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=1.039 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,68:132:0.51515:65:-100:0.1429:10,18,12,15,4,9,24,41,18,24,8,17:100:100 +2 113984303 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+429A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984303T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11644;CSQ_gnomADg_AN=30798;CSQ_gnomADg_AF=0.378076;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105840654&COSV105840654&COSV105840654&COSV105840654&COSV105840654;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=1.039 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,68:132:0.51515:65:-100:0.1429:10,18,12,15,4,9,24,41,18,24,8,17:100:100 +2 113984503 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+229G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984503C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243803;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3389;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.109712;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=3.519 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,20:140:0.14286:65:-100:0.1411:4,8,1,2,0,5,24,60,12,17,8,19:100:100 +2 113984503 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+229G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984503C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243803;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3389;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.109712;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q293int&PAX8:Q293intd&PAX8:Q370int&PAX8:Q370intd;CSQ_CADD_PHRED=3.519 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,20:140:0.14286:65:-100:0.1411:4,8,1,2,0,5,24,60,12,17,8,19:100:100 +2 113984594 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+138A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984594T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1287109;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5328;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.172371;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.027 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,37:142:0.26056:65:-100:0.118:9,15,4,5,2,2,28,58,13,22,6,15:100:100 +2 113984594 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+138A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984594T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1287109;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5328;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.172371;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.027 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,37:142:0.26056:65:-100:0.118:9,15,4,5,2,2,28,58,13,22,6,15:100:100 +2 113984703 . G T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+29C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984703G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=14;CSQ_gnomADe_AN=162420;CSQ_gnomADe_AF=8.61963e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.317 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,7:147:0.04762:65:-95.7439:0.125:1,1,0,2,0,3,19,57,9,22,12,28:77.036:100 +2 113984703 . G T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+29C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984703G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=14;CSQ_gnomADe_AN=162420;CSQ_gnomADe_AF=8.61963e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.317 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,7:147:0.04762:65:-95.7439:0.125:1,1,0,2,0,3,19,57,9,22,12,28:77.036:100 +2 113984717 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1189+15G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984717C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330886;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism&_congenital&_nongoitrous&_2¬_specified¬_provided;CSQ_gnomADg_AC=62;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.00200388;CSQ_gnomADe_AC=500;CSQ_gnomADe_AN=184988;CSQ_gnomADe_AF=0.00270288;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV99639119&COSV99639119&COSV99639119&COSV99639119&COSV99639119;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd;CSQ_CADD_PHRED=1.472 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,15:143:0.1049:65:-100:0.1386:0,7,3,0,0,5,19,55,8,21,12,28:100:100 +2 113984717 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1110+15G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113984717C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330886;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism&_congenital&_nongoitrous&_2¬_specified¬_provided;CSQ_gnomADg_AC=62;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.00200388;CSQ_gnomADe_AC=500;CSQ_gnomADe_AN=184988;CSQ_gnomADe_AF=0.00270288;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV99639119&COSV99639119&COSV99639119&COSV99639119&COSV99639119;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G397int&PAX8:G397intd;CSQ_CADD_PHRED=1.472 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,15:143:0.1049:65:-100:0.1386:0,7,3,0,0,5,19,55,8,21,12,28:100:100 +2 113985170 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1088-337G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113985170C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1260851;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11655;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.377209;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q336int&PAX8:Q336inta;CSQ_CADD_PHRED=6.135 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,56:119:0.47059:65:-100:0.0846:7,22,7,11,4,5,15,47,12,21,6,18:100:100 +2 113985170 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1009-337G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113985170C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1260851;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11655;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.377209;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q336int&PAX8:Q336inta;CSQ_CADD_PHRED=6.135 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,56:119:0.47059:65:-100:0.0846:7,22,7,11,4,5,15,47,12,21,6,18:100:100 +2 113985186 . C G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1088-353G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113985186C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1266961;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5554;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.179462;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q336int&PAX8:Q336inta;CSQ_CADD_PHRED=0.273 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,20:113:0.17699:65:-100:0.1691:3,7,1,4,4,1,18,36,9,22,10,18:100:100 +2 113985186 . C G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1009-353G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113985186C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1266961;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5554;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.179462;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q336int&PAX8:Q336inta;CSQ_CADD_PHRED=0.273 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,20:113:0.17699:65:-100:0.1691:3,7,1,4,4,1,18,36,9,22,10,18:100:100 +2 113985434 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1088-601C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113985434G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=75;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00242232;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.889 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,20:145:0.13793:65:-100:0.1212:4,9,4,2,0,1,23,54,8,27,12,21:100:100 +2 113985434 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1009-601C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113985434G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=75;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00242232;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.889 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,20:145:0.13793:65:-100:0.1212:4,9,4,2,0,1,23,54,8,27,12,21:100:100 +2 113986629 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1088-1796G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113986629C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5562;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.179709;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q336int&PAX8:Q336inta;CSQ_CADD_PHRED=8.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,23:134:0.17164:65:-100:0.2118:7,9,2,4,0,1,25,61,7,20,9,12:100:100 +2 113986629 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1009-1796G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113986629C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5562;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.179709;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q336int&PAX8:Q336inta;CSQ_CADD_PHRED=8.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,23:134:0.17164:65:-100:0.2118:7,9,2,4,0,1,25,61,7,20,9,12:100:100 +2 113986881 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1088-2048T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113986881A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5333;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.172611;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.809 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,36:132:0.27273:65:-100:0.1538:5,13,4,5,1,8,17,48,16,25,4,22:100:100 +2 113986881 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1009-2048T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113986881A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5333;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.172611;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.809 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,36:132:0.27273:65:-100:0.1538:5,13,4,5,1,8,17,48,16,25,4,22:100:100 +2 113988492 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1088-3659C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113988492G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11652;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.377185;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336inta;CSQ_CADD_PHRED=7.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,42:120:0.35:65:-100:0.1304:11,13,3,9,0,6,22,40,7,22,8,21:100:100 +2 113988492 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1009-3659C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113988492G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11652;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.377185;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363inta&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336inta;CSQ_CADD_PHRED=7.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,42:120:0.35:65:-100:0.1304:11,13,3,9,0,6,22,40,7,22,8,21:100:100 +2 113988729 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1088-3896A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113988729T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5346;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.172775;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,25:128:0.19531:65:-100:0.1523:4,11,3,5,0,2,20,45,16,24,8,15:100:100 +2 113988729 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1009-3896A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113988729T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5346;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.172775;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,25:128:0.19531:65:-100:0.1523:4,11,3,5,0,2,20,45,16,24,8,15:100:100 +2 113989122 . A AG 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+3848dup;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989123dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12149;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.393197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=7.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,56:138:0.4058:65:-100:0:11,22,5,9,2,7,26,58,11,23,3,16:100:100 +2 113989122 . A AG 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+3848dup;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989123dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12149;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.393197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=7.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,56:138:0.4058:65:-100:0:11,22,5,9,2,7,26,58,11,23,3,16:100:100 +2 113989236 . C T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+3735G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989236C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5507;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.177944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=4.240 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,30:180:0.16667:65:-100:0.1705:8,12,1,3,6,0,38,48,20,26,28,20:100:100 +2 113989236 . C T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+3735G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989236C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5507;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.177944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=4.240 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,30:180:0.16667:65:-100:0.1705:8,12,1,3,6,0,38,48,20,26,28,20:100:100 +2 113989267 . T C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+3704A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989267T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11651;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.377202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=3.660 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,59:181:0.32597:65:-100:0.134:9,22,6,8,10,4,31,50,18,30,28,24:100:100 +2 113989267 . T C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+3704A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989267T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11651;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.377202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=3.660 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,59:181:0.32597:65:-100:0.134:9,22,6,8,10,4,31,50,18,30,28,24:100:100 +2 113989558 . G A 100 PASS DP=63;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+3413C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989558G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5464;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.17692;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=3.179 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,14:63:0.22222:65:-100:0.1127:2,2,2,4,0,4,5,25,6,12,2,13:100:100 +2 113989558 . G A 100 PASS DP=63;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+3413C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989558G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5464;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.17692;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=3.179 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,14:63:0.22222:65:-100:0.1127:2,2,2,4,0,4,5,25,6,12,2,13:100:100 +2 113989659 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+3312C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989659G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=72;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.00232754;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.784 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,13:117:0.11111:65:-100:0.1397:4,9,0,0,0,0,25,42,9,19,1,21:100:100 +2 113989659 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+3312C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113989659G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=72;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.00232754;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.784 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,13:117:0.11111:65:-100:0.1397:4,9,0,0,0,0,25,42,9,19,1,21:100:100 +2 113990242 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+2729A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113990242T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5447;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.176267;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=8.682 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,25:152:0.16447:65:-100:0.1556:6,10,0,2,2,5,21,60,14,33,6,18:100:100 +2 113990242 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+2729A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113990242T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5447;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.176267;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=8.682 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,25:152:0.16447:65:-100:0.1556:6,10,0,2,2,5,21,60,14,33,6,18:100:100 +2 113990261 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+2710C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113990261G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11010;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.356888;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=1.715 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,53:139:0.3813:65:-100:0.1472:8,24,5,8,0,8,19,57,15,28,3,17:100:100 +2 113990261 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+2710C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113990261G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11010;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.356888;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=1.715 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,53:139:0.3813:65:-100:0.1472:8,24,5,8,0,8,19,57,15,28,3,17:100:100 +2 113990393 . C A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+2578G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113990393C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10955;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.356562;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=0.817 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,37:125:0.296:65:-100:0.1319:2,19,1,6,4,5,15,50,6,22,11,21:100:100 +2 113990393 . C A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+2578G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113990393C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10955;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.356562;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=0.817 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,37:125:0.296:65:-100:0.1319:2,19,1,6,4,5,15,50,6,22,11,21:100:100 +2 113990941 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+2030T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113990941A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1316;CSQ_gnomADg_AN=29954;CSQ_gnomADg_AF=0.043934;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.306 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,6:94:0.06383:65:-99.9461:0.2879:0,2,1,1,1,1,11,24,4,25,9,21:68.643:100 +2 113990941 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+2030T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113990941A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1316;CSQ_gnomADg_AN=29954;CSQ_gnomADg_AF=0.043934;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.306 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,6:94:0.06383:65:-99.9461:0.2879:0,2,1,1,1,1,11,24,4,25,9,21:68.643:100 +2 113991970 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+1001T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113991970A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11678;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.377807;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=1.218 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,50:117:0.42735:65:-100:0.146:7,13,2,18,5,5,15,46,8,33,6,9:100:100 +2 113991970 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+1001T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113991970A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11678;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.377807;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259inta&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=1.218 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,50:117:0.42735:65:-100:0.146:7,13,2,18,5,5,15,46,8,33,6,9:100:100 +2 113991999 . G A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+972C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113991999G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=47;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0015176;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.692 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,9:107:0.08411:65:-100:0.1508:1,2,2,4,0,0,22,28,18,22,5,12:100:100 +2 113991999 . G A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+972C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113991999G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=47;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0015176;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.692 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,9:107:0.08411:65:-100:0.1508:1,2,2,4,0,0,22,28,18,22,5,12:100:100 +2 113992374 . G C 100 PASS DP=82;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+597C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113992374G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17534;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.56748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=1.387 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,54:82:0.65854:65:-100:0.219:7,15,5,12,3,12,10,28,5,15,5,19:100:100 +2 113992374 . G C 100 PASS DP=82;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+597C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113992374G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17534;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.56748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=1.387 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,54:82:0.65854:65:-100:0.219:7,15,5,12,3,12,10,28,5,15,5,19:100:100 +2 113992624 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+347A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113992624T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5442;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.175968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=5.151 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,38:144:0.26389:65:-100:0.1579:4,15,1,11,3,4,19,47,13,31,14,20:100:100 +2 113992624 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+347A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113992624T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5442;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.175968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=5.151 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,38:144:0.26389:65:-100:0.1579:4,15,1,11,3,4,19,47,13,31,14,20:100:100 +2 113992800 . TCC T 100 PASS DP=111;CSQ_Allele=-;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.1087+169_1087+170del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113992803_113992804del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1272059;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10934;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.354747;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=4.385 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,50:111:0.45045:65:-100:0:6,19,7,10,2,6,17,43,12,14,3,22:100:100 +2 113992800 . TCC T 100 PASS DP=111;CSQ_Allele=-;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.1008+169_1008+170del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113992803_113992804del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1272059;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10934;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.354747;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:G363int&PAX8:G363intd&PAX8:Q259int&PAX8:Q259intd&PAX8:Q336int&PAX8:Q336intd;CSQ_CADD_PHRED=4.385 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,50:111:0.45045:65:-100:0:6,19,7,10,2,6,17,43,12,14,3,22:100:100 +2 113993344 . A C 100 PASS DP=95;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.899-185T>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113993344A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1227992;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10796;CSQ_gnomADg_AN=30760;CSQ_gnomADg_AF=0.350975;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:A300int&PAX8:A300inta&PAX8:D300int&PAX8:D300inta&PAX8:Q259int&PAX8:Q259intd;CSQ_CADD_PHRED=10.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,36:95:0.37895:65:-100:0.1441:5,15,4,3,3,6,15,37,12,10,8,13:100:100 +2 113993344 . A C 100 PASS DP=95;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.899-264T>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113993344A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1227992;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10796;CSQ_gnomADg_AN=30760;CSQ_gnomADg_AF=0.350975;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:A300int&PAX8:A300inta&PAX8:D300int&PAX8:D300inta&PAX8:Q259int&PAX8:Q259intd;CSQ_CADD_PHRED=10.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,36:95:0.37895:65:-100:0.1441:5,15,4,3,3,6,15,37,12,10,8,13:100:100 +2 113993385 . C G 100 PASS DP=86;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.899-226G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113993385C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1253765;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10975;CSQ_gnomADg_AN=30764;CSQ_gnomADg_AF=0.356748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:A300int&PAX8:A300inta&PAX8:D300int&PAX8:D300inta&PAX8:Q259int&PAX8:Q259intd;CSQ_CADD_PHRED=6.491 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,32:86:0.37209:65:-100:0.14:7,9,7,2,4,3,23,27,11,9,9,7:100:100 +2 113993385 . C G 100 PASS DP=86;CSQ_Allele=G;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.899-305G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113993385C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1253765;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10975;CSQ_gnomADg_AN=30764;CSQ_gnomADg_AF=0.356748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:A300int&PAX8:A300inta&PAX8:D300int&PAX8:D300inta&PAX8:Q259int&PAX8:Q259intd;CSQ_CADD_PHRED=6.491 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,32:86:0.37209:65:-100:0.14:7,9,7,2,4,3,23,27,11,9,9,7:100:100 +2 113994079 . C T 100 PASS DP=13;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/11;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.898+99G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113994079C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1234501;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5355;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.173785;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54511889&COSV54511889&COSV54511889&COSV54511889&COSV54511889;CSQ_COSMICncMuts=COSV54511889&COSV54511889&COSV54511889&COSV54511889&COSV54511889;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:A300int&PAX8:A300intd&PAX8:D300int&PAX8:D300intd&PAX8:Q259int&PAX8:Q259intd;CSQ_CADD_PHRED=14.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,5:13:0.38462:65:-100:0.2778:2,0,2,0,1,0,7,1,2,0,3,0:100:100 +2 113994079 . C T 100 PASS DP=13;CSQ_Allele=T;CSQ_SYMBOL=PAX8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/11;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.898+99G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.113994079C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1234501;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5355;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.173785;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54511889&COSV54511889&COSV54511889&COSV54511889&COSV54511889;CSQ_COSMICncMuts=COSV54511889&COSV54511889&COSV54511889&COSV54511889&COSV54511889;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX8:A300int&PAX8:A300intd&PAX8:D300int&PAX8:D300intd&PAX8:Q259int&PAX8:Q259intd;CSQ_CADD_PHRED=14.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,5:13:0.38462:65:-100:0.2778:2,0,2,0,1,0,7,1,2,0,3,0:100:100 +2 114036436 . G C 100 PASS DP=154;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/12;CSQ_INTRON=.;CSQ_Feature=NM_003466.4;CSQ_HGVSc=NM_003466.4:c.-104C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.114036436G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30339;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.980892;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,154:154:1:65:-100:0.1149:22,45,18,30,13,26,22,45,18,30,13,26:100:100 +2 114036436 . G C 100 PASS DP=154;CSQ_Allele=C;CSQ_SYMBOL=PAX8;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/12;CSQ_INTRON=.;CSQ_Feature=NM_013952.4;CSQ_HGVSc=NM_013952.4:c.-104C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.114036436G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30339;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.980892;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,154:154:1:65:-100:0.1149:22,45,18,30,13,26,22,45,18,30,13,26:100:100 +2 136872508 . G T 100 PASS DP=114;CSQ_Allele=T;CSQ_SYMBOL=CXCR4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_003467.3;CSQ_HGVSc=NM_003467.3:c.990C>A;CSQ_HGVSp=NP_003458.1:p.Ser330%3D;CSQ_HGVSg=2:g.136872508G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54011351&COSV54011351;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.28 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,8:114:0.07018:65:-100:0.1163:1,4,1,1,1,0,23,27,8,24,14,18:100:100 +2 136873084 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=CXCR4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_003467.3;CSQ_HGVSc=NM_003467.3:c.414C>T;CSQ_HGVSp=NP_003458.1:p.Ile138%3D;CSQ_HGVSg=2:g.136873084G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259052;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Warts&_hypogammaglobulinemia&_infections&_and_myelokathexis¬_specified¬_provided;CSQ_gnomADg_AC=1093;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0352968;CSQ_gnomADe_AC=11150;CSQ_gnomADe_AN=246248;CSQ_gnomADe_AF=0.0452796;CSQ_gnomADe_Hom=426;CSQ_COSMICcMuts=COSV54010972&COSV54010972;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CXCR4:I123I&CXCR4:I138I&CXCR4:I142I&CXCR4:I171I&CXCR4:I209I;CSQ_CADD_PHRED=5.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,10:150:0.06667:65:-96.6195:0.1525:0,6,0,1,1,2,21,57,7,21,14,30:100:100 +2 136873271 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=CXCR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_003467.3;CSQ_HGVSc=NM_003467.3:c.227A>G;CSQ_HGVSp=NP_003458.1:p.Tyr76Cys;CSQ_HGVSg=2:g.136873271T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54010069&COSV54010069;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.925;CSQ_Mastermind_MMID3=CXCR4:Y76C&CXCR4:Y80C;CSQ_CADD_PHRED=28.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,7:156:0.04487:65:-95.7439:0.1522:0,5,0,1,1,0,22,65,7,31,8,23:84.954:100 +2 136873370 . G T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=CXCR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_003467.3;CSQ_HGVSc=NM_003467.3:c.128C>A;CSQ_HGVSp=NP_003458.1:p.Thr43Asn;CSQ_HGVSg=2:g.136873370G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.191;CSQ_Mastermind_MMID3=CXCR4:T114N&CXCR4:T28N&CXCR4:T43N&CXCR4:T76N;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,24:133:0.18045:65:-100:0.1074:2,8,1,6,1,6,15,55,10,20,10,23:100:100 +2 136877069 . G T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=CXCR4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_003467.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.136877069G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=3.23018e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,7:130:0.05385:65:-98.2031:0.172:0,1,0,2,0,4,28,46,11,16,11,18:95.868:100 +2 140997076 . G A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=88/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.13350C>T;CSQ_HGVSp=NP_061027.2:p.Leu4450%3D;CSQ_HGVSg=2:g.140997076G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30762;CSQ_gnomADg_AF=9.75229e-05;CSQ_gnomADe_AC=15;CSQ_gnomADe_AN=241962;CSQ_gnomADe_AF=6.19932e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV67196410;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.17;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:L4450L;CSQ_CADD_PHRED=1.327 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,7:107:0.06542:65:-100:0.0696:1,3,0,1,0,2,18,36,10,15,5,23:78.366:100 +2 141032088 . C T 100 PASS DP=95;CSQ_Allele=T;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=85/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.13047G>A;CSQ_HGVSp=NP_061027.2:p.Thr4349%3D;CSQ_HGVSg=2:g.141032088C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16675;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.54115;CSQ_gnomADe_AC=149628;CSQ_gnomADe_AN=245516;CSQ_gnomADe_AF=0.609443;CSQ_gnomADe_Hom=47408;CSQ_COSMICcMuts=COSV67186048;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:T4349T;CSQ_CADD_PHRED=6.949 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,49:95:0.51579:65:-100:0.1441:5,21,8,4,5,6,11,34,12,13,8,17:100:100 +2 141116447 . G T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=LRP1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=73/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.11200C>A;CSQ_HGVSp=NP_061027.2:p.Gln3734Lys;CSQ_HGVSg=2:g.141116447G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1136;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.0368496;CSQ_gnomADe_AC=8502;CSQ_gnomADe_AN=244580;CSQ_gnomADe_AF=0.0347616;CSQ_gnomADe_Hom=216;CSQ_COSMICcMuts=COSV67187972;CSQ_COSMICncMuts=COSV67187972;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.083;CSQ_Mastermind_MMID3=LRP1B:Q3734K;CSQ_CADD_PHRED=15.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,12:139:0.08633:65:-100:0.1258:1,4,1,2,3,1,21,42,18,23,12,23:100:100 +2 141135765 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=LRP1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=68/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.10622C>T;CSQ_HGVSp=NP_061027.2:p.Ala3541Val;CSQ_HGVSg=2:g.141135765G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67202965;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=0.340;CSQ_Mastermind_MMID3=LRP1B:A3541V;CSQ_CADD_PHRED=23.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,8:128:0.0625:65:-100:0.1293:0,1,2,2,2,1,28,39,16,19,10,16:91.919:100 +2 141215082 . C A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=LRP1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=61/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.9764G>T;CSQ_HGVSp=NP_061027.2:p.Trp3255Leu;CSQ_HGVSg=2:g.141215082C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67194773;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=0.439;CSQ_Mastermind_MMID3=LRP1B:W3255L;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,6:120:0.05:65:-100:0.1176:2,3,0,1,0,0,21,35,21,20,8,15:64.495:100 +2 141232800 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=LRP1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=60/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.9532G>A;CSQ_HGVSp=NP_061027.2:p.Ala3178Thr;CSQ_HGVSg=2:g.141232800C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=342;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.0110816;CSQ_gnomADe_AC=2544;CSQ_gnomADe_AN=245438;CSQ_gnomADe_AF=0.0103651;CSQ_gnomADe_Hom=25;CSQ_COSMICcMuts=COSV67189524;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.734;CSQ_Mastermind_MMID3=LRP1B:A3178T;CSQ_CADD_PHRED=29.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,7:118:0.05932:65:-96.8868:0.1631:0,3,1,2,1,0,15,52,15,15,3,18:81.765:100 +2 141259283 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=55/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.8823C>T;CSQ_HGVSp=NP_061027.2:p.Asp2941%3D;CSQ_HGVSg=2:g.141259283G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4841;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.156799;CSQ_gnomADe_AC=41949;CSQ_gnomADe_AN=244422;CSQ_gnomADe_AF=0.171625;CSQ_gnomADe_Hom=4248;CSQ_COSMICcMuts=COSV67187974;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:D2941D;CSQ_CADD_PHRED=6.688 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,6:102:0.05882:65:-99.9461:0.0811:1,3,0,0,0,2,18,29,6,22,6,21:69.119:100 +2 141259376 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=55/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.8730C>T;CSQ_HGVSp=NP_061027.2:p.Cys2910%3D;CSQ_HGVSg=2:g.141259376G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6362;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.206317;CSQ_gnomADe_AC=52113;CSQ_gnomADe_AN=244490;CSQ_gnomADe_AF=0.21315;CSQ_gnomADe_Hom=6556;CSQ_COSMICcMuts=COSV67182519;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:C2910C;CSQ_CADD_PHRED=8.813 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,15:117:0.12821:65:-100:0.1069:4,4,1,2,0,4,23,38,11,18,9,18:100:100 +2 141260668 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=54/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.8526T>C;CSQ_HGVSp=NP_061027.2:p.Tyr2842%3D;CSQ_HGVSg=2:g.141260668A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16837;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.546301;CSQ_gnomADe_AC=134430;CSQ_gnomADe_AN=245472;CSQ_gnomADe_AF=0.547639;CSQ_gnomADe_Hom=37632;CSQ_COSMICcMuts=COSV67186049;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:Y2842Y;CSQ_CADD_PHRED=7.386 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,74:94:0.78723:65:-100:0.1048:9,28,10,10,8,9,12,35,13,15,8,11:100:100 +2 141267573 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=52/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.8322C>T;CSQ_HGVSp=NP_061027.2:p.Cys2774%3D;CSQ_HGVSg=2:g.141267573G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2135;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0689733;CSQ_gnomADe_AC=14100;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.0572835;CSQ_gnomADe_Hom=564;CSQ_COSMICcMuts=COSV67206921;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:C2774C;CSQ_CADD_PHRED=8.274 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,6:119:0.05042:65:-97.8929:0.1793:1,0,0,1,2,2,23,42,11,13,10,20:64.293:100 +2 141274576 . T C 100 PASS DP=85;CSQ_Allele=C;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=50/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.8031A>G;CSQ_HGVSp=NP_061027.2:p.Gln2677%3D;CSQ_HGVSg=2:g.141274576T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22051;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.713717;CSQ_gnomADe_AC=175065;CSQ_gnomADe_AN=245310;CSQ_gnomADe_AF=0.713648;CSQ_gnomADe_Hom=63768;CSQ_COSMICcMuts=COSV67186053;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:Q2677Q;CSQ_CADD_PHRED=8.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,53:85:0.62353:65:-100:0.1414:9,22,4,6,4,8,14,29,9,15,5,13:100:100 +2 141291600 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=47/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.7752A>G;CSQ_HGVSp=NP_061027.2:p.Leu2584%3D;CSQ_HGVSg=2:g.141291600T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=245526;CSQ_gnomADe_AF=1.22187e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.814 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,11:130:0.08462:65:-100:0.1333:5,1,2,1,1,1,23,41,15,17,15,19:100:100 +2 141359170 . A G 100 PASS DP=102;CSQ_Allele=G;CSQ_SYMBOL=LRP1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=42/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.6838T>C;CSQ_HGVSp=NP_061027.2:p.Trp2280Arg;CSQ_HGVSg=2:g.141359170A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67191337;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=0.803;CSQ_Mastermind_MMID3=LRP1B:W2280R;CSQ_CADD_PHRED=29.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,15:102:0.14706:65:-100:0.1969:1,7,2,3,0,2,16,34,8,20,11,13:100:100 +2 141457985 . T A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=41/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.6633A>T;CSQ_HGVSp=NP_061027.2:p.Pro2211%3D;CSQ_HGVSg=2:g.141457985T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7145;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.231514;CSQ_gnomADe_AC=46300;CSQ_gnomADe_AN=245710;CSQ_gnomADe_AF=0.188434;CSQ_gnomADe_Hom=5121;CSQ_COSMICcMuts=COSV67186055;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:P2211P;CSQ_CADD_PHRED=10.30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,34:109:0.31193:65:-100:0.121:6,10,3,7,3,5,21,42,7,17,11,11:100:100 +2 141571329 . T C 100 PASS DP=95;CSQ_Allele=C;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=32/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.5256A>G;CSQ_HGVSp=NP_061027.2:p.Ser1752%3D;CSQ_HGVSg=2:g.141571329T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26277;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.849069;CSQ_gnomADe_AC=213843;CSQ_gnomADe_AN=245648;CSQ_gnomADe_AF=0.870526;CSQ_gnomADe_Hom=93573;CSQ_COSMICcMuts=COSV67186059;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:S1752S;CSQ_CADD_PHRED=4.078 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,63:95:0.66316:65:-100:0.1593:7,16,7,15,8,10,12,22,11,26,10,14:100:100 +2 141707868 . G T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.3072C>A;CSQ_HGVSp=NP_061027.2:p.Ala1024%3D;CSQ_HGVSg=2:g.141707868G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6204;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.20105;CSQ_gnomADe_AC=42381;CSQ_gnomADe_AN=244720;CSQ_gnomADe_AF=0.173182;CSQ_gnomADe_Hom=4584;CSQ_COSMICcMuts=COSV67185870;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:A1024A;CSQ_CADD_PHRED=10.11 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,10:105:0.09524:65:-100:0.087:1,1,1,4,1,2,16,30,10,21,14,14:98.536:100 +2 141751592 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=LRP1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.2616C>T;CSQ_HGVSp=NP_061027.2:p.Asp872%3D;CSQ_HGVSg=2:g.141751592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11916;CSQ_gnomADg_AN=30762;CSQ_gnomADg_AF=0.387361;CSQ_gnomADe_AC=93579;CSQ_gnomADe_AN=245100;CSQ_gnomADe_AF=0.381799;CSQ_gnomADe_Hom=19264;CSQ_COSMICcMuts=COSV63341570;CSQ_COSMICncMuts=COSV63341570;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:D872D;CSQ_CADD_PHRED=0.338 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,69:112:0.61607:65:-100:0.1111:10,22,4,13,4,16,18,42,6,16,8,22:100:100 +2 141816621 . A G 100 PASS DP=57;CSQ_Allele=G;CSQ_SYMBOL=LRP1B;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.1239T>C;CSQ_HGVSp=NP_061027.2:p.Val413%3D;CSQ_HGVSg=2:g.141816621A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29311;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.949929;CSQ_gnomADe_AC=196498;CSQ_gnomADe_AN=198916;CSQ_gnomADe_AF=0.987844;CSQ_gnomADe_Hom=97249;CSQ_COSMICcMuts=COSV67186066;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LRP1B:V413V;CSQ_CADD_PHRED=11.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,57:57:1:65:-100:0.1094:12,13,9,12,3,8,12,13,9,12,3,8:100:100 +2 142567910 . T C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=LRP1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/91;CSQ_INTRON=.;CSQ_Feature=NM_018557.3;CSQ_HGVSc=NM_018557.3:c.143A>G;CSQ_HGVSp=NP_061027.2:p.Gln48Arg;CSQ_HGVSg=2:g.142567910T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5733;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.185582;CSQ_gnomADe_AC=58022;CSQ_gnomADe_AN=245280;CSQ_gnomADe_AF=0.236554;CSQ_gnomADe_Hom=7686;CSQ_COSMICcMuts=COSV67182532;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.230;CSQ_Mastermind_MMID3=LRP1B:Q48R;CSQ_CADD_PHRED=19.92 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.155:0,4,1,2,1,4,10,48,4,18,8,21:100:100 +2 158626980 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ACVR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_001105.5;CSQ_HGVSc=NM_001105.5:c.690G>A;CSQ_HGVSp=NP_001096.1:p.Glu230%3D;CSQ_HGVSg=2:g.158626980C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257466;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Progressive_myositis_ossificans¬_specified¬_provided;CSQ_gnomADg_AC=28444;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.919625;CSQ_gnomADe_AC=238385;CSQ_gnomADe_AN=245882;CSQ_gnomADe_AF=0.96951;CSQ_gnomADe_Hom=115934;CSQ_COSMICcMuts=COSV99717424&COSV99717424&COSV99717424&COSV99717424;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ACVR1:E230E;CSQ_CADD_PHRED=10.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:10,117:127:0.92126:65:-100:0.1645:17,32,15,20,7,26,19,37,15,20,8,28:100:100 +2 158636910 . G A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=ACVR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_001105.5;CSQ_HGVSc=NM_001105.5:c.270C>T;CSQ_HGVSp=NP_001096.1:p.Ala90%3D;CSQ_HGVSg=2:g.158636910G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257464;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Progressive_myositis_ossificans¬_specified¬_provided;CSQ_gnomADg_AC=19812;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.641663;CSQ_gnomADe_AC=187684;CSQ_gnomADe_AN=246000;CSQ_gnomADe_AF=0.762943;CSQ_gnomADe_Hom=74064;CSQ_COSMICcMuts=COSV99717425&COSV99717425&COSV99717425&COSV99717425;CSQ_COSMICncMuts=COSV99717425&COSV99717425&COSV99717425&COSV99717425;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ACVR1:A90A;CSQ_CADD_PHRED=8.699 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,97:134:0.72388:65:-100:0.1355:18,37,7,9,16,10,26,51,11,11,17,18:100:100 +2 173433506 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=PDK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/12;CSQ_INTRON=.;CSQ_Feature=NM_001278549.2;CSQ_HGVSc=NM_001278549.2:c.867A>G;CSQ_HGVSp=NP_001265478.1:p.Val289%3D;CSQ_HGVSg=2:g.173433506A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56374486&COSV56374486&COSV56374486&COSV56374486&COSV56374486;CSQ_COSMICncMuts=COSV56374486&COSV56374486&COSV56374486&COSV56374486;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.67 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,9:130:0.06923:65:-100:0.1156:1,4,1,1,1,1,23,51,11,19,14,12:100:100 +2 173433506 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=PDK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_002610.5;CSQ_HGVSc=NM_002610.5:c.807A>G;CSQ_HGVSp=NP_002601.1:p.Val269%3D;CSQ_HGVSg=2:g.173433506A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56374486&COSV56374486&COSV56374486&COSV56374486&COSV56374486;CSQ_COSMICncMuts=COSV56374486&COSV56374486&COSV56374486&COSV56374486;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDK1:V269V;CSQ_CADD_PHRED=11.67 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,9:130:0.06923:65:-100:0.1156:1,4,1,1,1,1,23,51,11,19,14,12:100:100 +2 173460640 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=PDK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001278549.2;CSQ_HGVSc=NM_001278549.2:c.1314T>C;CSQ_HGVSp=NP_001265478.1:p.Asp438%3D;CSQ_HGVSg=2:g.173460640T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2844;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0918901;CSQ_gnomADe_AC=23156;CSQ_gnomADe_AN=245684;CSQ_gnomADe_AF=0.0942512;CSQ_gnomADe_Hom=1304;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDK1:D418D&PDK1:D438D;CSQ_CADD_PHRED=9.586 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,40:125:0.32:65:-100:0.1611:7,13,2,6,5,7,20,38,14,16,12,25:100:100 +2 173460640 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=PDK1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_002610.5;CSQ_HGVSc=NM_002610.5:c.1254T>C;CSQ_HGVSp=NP_002601.1:p.Asp418%3D;CSQ_HGVSg=2:g.173460640T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2844;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0918901;CSQ_gnomADe_AC=23156;CSQ_gnomADe_AN=245684;CSQ_gnomADe_AF=0.0942512;CSQ_gnomADe_Hom=1304;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDK1:D418D&PDK1:D438D;CSQ_CADD_PHRED=9.586 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,40:125:0.32:65:-100:0.1611:7,13,2,6,5,7,20,38,14,16,12,25:100:100 +2 178095900 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=NFE2L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_001145412.3;CSQ_HGVSc=NM_001145412.3:c.1383T>C;CSQ_HGVSp=NP_001138884.1:p.Pro461%3D;CSQ_HGVSg=2:g.178095900A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245276;CSQ_gnomADe_AF=4.07704e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV67962194&COSV67962194&COSV67962194&COSV67962194;CSQ_COSMICncMuts=COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,6:120:0.05:65:-98.0466:0.1724:1,4,0,0,0,1,17,49,10,16,4,24:70.688:100 +2 178095900 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=NFE2L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_006164.5;CSQ_HGVSc=NM_006164.5:c.1431T>C;CSQ_HGVSp=NP_006155.2:p.Pro477%3D;CSQ_HGVSg=2:g.178095900A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245276;CSQ_gnomADe_AF=4.07704e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV67962194&COSV67962194&COSV67962194&COSV67962194;CSQ_COSMICncMuts=COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194&COSV67962194;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,6:120:0.05:65:-98.0466:0.1724:1,4,0,0,0,1,17,49,10,16,4,24:70.688:100 +2 178098815 . T A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=NFE2L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_001145412.3;CSQ_HGVSc=NM_001145412.3:c.182A>T;CSQ_HGVSp=NP_001138884.1:p.Asp61Val;CSQ_HGVSg=2:g.178098815T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67960411&COSV67960411&COSV67960411&COSV67960411&COSV67960411;CSQ_COSMICncMuts=COSV67960411&COSV67960411;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=0.517;CSQ_Mastermind_MMID3=NFE2L2:D61V&NFE2L2:D77V;CSQ_CADD_PHRED=28.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,6:123:0.04878:65:-97.8929:0.1633:3,0,1,0,1,1,20,45,8,19,8,23:67.671:100 +2 178098815 . T A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=NFE2L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_006164.5;CSQ_HGVSc=NM_006164.5:c.230A>T;CSQ_HGVSp=NP_006155.2:p.Asp77Val;CSQ_HGVSg=2:g.178098815T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67960411&COSV67960411&COSV67960411&COSV67960411&COSV67960411;CSQ_COSMICncMuts=COSV67960411&COSV67960411;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=0.517;CSQ_Mastermind_MMID3=NFE2L2:D61V&NFE2L2:D77V;CSQ_CADD_PHRED=28.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,6:123:0.04878:65:-97.8929:0.1633:3,0,1,0,1,1,20,45,8,19,8,23:67.671:100 +2 178098917 . C T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=NFE2L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_001145412.3;CSQ_HGVSc=NM_001145412.3:c.80G>A;CSQ_HGVSp=NP_001138884.1:p.Arg27Gln;CSQ_HGVSg=2:g.178098917C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134900;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=112;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0036178;CSQ_gnomADe_AC=278;CSQ_gnomADe_AN=245850;CSQ_gnomADe_AF=0.00113077;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV67961640&COSV67961640&COSV67961640&COSV67961640&COSV67961640;CSQ_COSMICncMuts=COSV67961640&COSV67961640;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=0.061;CSQ_Mastermind_MMID3=NFE2L2:5UTR&NFE2L2:G31int&NFE2L2:G31intd&NFE2L2:R27Q&NFE2L2:R43Q;CSQ_CADD_PHRED=15.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,13:104:0.125:65:-100:0.1475:2,3,1,2,2,3,18,29,6,18,16,17:100:100 +2 178098917 . C T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=NFE2L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_006164.5;CSQ_HGVSc=NM_006164.5:c.128G>A;CSQ_HGVSp=NP_006155.2:p.Arg43Gln;CSQ_HGVSg=2:g.178098917C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134900;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=112;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0036178;CSQ_gnomADe_AC=278;CSQ_gnomADe_AN=245850;CSQ_gnomADe_AF=0.00113077;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV67961640&COSV67961640&COSV67961640&COSV67961640&COSV67961640;CSQ_COSMICncMuts=COSV67961640&COSV67961640;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=0.061;CSQ_Mastermind_MMID3=NFE2L2:5UTR&NFE2L2:G31int&NFE2L2:G31intd&NFE2L2:R27Q&NFE2L2:R43Q;CSQ_CADD_PHRED=15.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,13:104:0.125:65:-100:0.1475:2,3,1,2,2,3,18,29,6,18,16,17:100:100 +2 192012816 . A G 100 PASS DP=95;CSQ_Allele=G;CSQ_SYMBOL=STAT4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/24;CSQ_INTRON=.;CSQ_Feature=NM_001243835.2;CSQ_HGVSc=NM_001243835.2:c.114T>C;CSQ_HGVSp=NP_001230764.1:p.Ile38%3D;CSQ_HGVSg=2:g.192012816A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=714164;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=92;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00297158;CSQ_gnomADe_AC=154;CSQ_gnomADe_AN=246054;CSQ_gnomADe_AF=0.000625879;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,10:95:0.10526:65:-100:0.1284:1,4,0,0,2,3,20,29,6,13,9,18:100:100 +2 198257795 . T C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=SF3B1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/25;CSQ_INTRON=.;CSQ_Feature=NM_012433.4;CSQ_HGVSc=NM_012433.4:c.3657A>G;CSQ_HGVSp=NP_036565.2:p.Val1219%3D;CSQ_HGVSg=2:g.198257795T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1250652;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=21035;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.680436;CSQ_gnomADe_AC=161990;CSQ_gnomADe_AN=246032;CSQ_gnomADe_AF=0.65841;CSQ_gnomADe_Hom=54898;CSQ_COSMICcMuts=COSV59206298;CSQ_COSMICncMuts=COSV59206298;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SF3B1:V1219V;CSQ_CADD_PHRED=11.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,89:116:0.76724:65:-100:0.1343:20,25,11,13,6,14,25,34,13,16,9,19:100:100 +2 198265526 . A G 100 PASS DP=96;CSQ_Allele=G;CSQ_SYMBOL=SF3B1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/25;CSQ_INTRON=.;CSQ_Feature=NM_012433.4;CSQ_HGVSc=NM_012433.4:c.2631T>C;CSQ_HGVSp=NP_036565.2:p.Gly877%3D;CSQ_HGVSg=2:g.198265526A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1228123;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=21015;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.680626;CSQ_gnomADe_AC=161755;CSQ_gnomADe_AN=245876;CSQ_gnomADe_AF=0.657872;CSQ_gnomADe_Hom=54783;CSQ_COSMICcMuts=COSV59206309;CSQ_COSMICncMuts=COSV59206309&COSV59206309&COSV59206309&COSV59206309;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SF3B1:G877G;CSQ_CADD_PHRED=11.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,69:96:0.71875:65:-100:0.1111:9,32,4,11,3,10,13,45,5,16,5,12:100:100 +2 198283305 . T C 100 PASS DP=97;CSQ_Allele=C;CSQ_SYMBOL=SF3B1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001005526.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.198283305T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1327755;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=21103;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.683786;CSQ_gnomADe_AC=160602;CSQ_gnomADe_AN=243922;CSQ_gnomADe_AF=0.658415;CSQ_gnomADe_Hom=54479;CSQ_COSMICcMuts=COSV59205521&COSV59205521;CSQ_COSMICncMuts=COSV59205521&COSV59205521&COSV59205521;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,66:97:0.68041:65:-100:0.1709:9,15,5,17,3,17,13,29,7,20,7,21:100:100 +2 198283305 . T C 100 PASS DP=97;CSQ_Allele=C;CSQ_SYMBOL=SF3B1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/25;CSQ_INTRON=.;CSQ_Feature=NM_012433.4;CSQ_HGVSc=NM_012433.4:c.423A>G;CSQ_HGVSp=NP_036565.2:p.Lys141%3D;CSQ_HGVSg=2:g.198283305T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1327755;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=21103;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.683786;CSQ_gnomADe_AC=160602;CSQ_gnomADe_AN=243922;CSQ_gnomADe_AF=0.658415;CSQ_gnomADe_Hom=54479;CSQ_COSMICcMuts=COSV59205521&COSV59205521;CSQ_COSMICncMuts=COSV59205521&COSV59205521&COSV59205521;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SF3B1:K141K;CSQ_CADD_PHRED=12.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,66:97:0.68041:65:-100:0.1709:9,15,5,17,3,17,13,29,7,20,7,21:100:100 +2 202122956 . T C 100 PASS DP=90;CSQ_Allele=C;CSQ_SYMBOL=CASP8;CSQ_Consequence=start_lost;CSQ_IMPACT=HIGH;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001080125.2;CSQ_HGVSc=NM_001080125.2:c.2T>C;CSQ_HGVSp=NP_001073594.1:p.Met1?;CSQ_HGVSg=2:g.202122956T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=402493;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1150;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.0372747;CSQ_gnomADe_AC=12094;CSQ_gnomADe_AN=245892;CSQ_gnomADe_AF=0.0491842;CSQ_gnomADe_Hom=483;CSQ_COSMICcMuts=COSV99965599&COSV99965599&COSV99965599&COSV99965599&COSV99965599&COSV99965599&COSV99965599;CSQ_COSMICncMuts=COSV99965599&COSV99965599&COSV99965599;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CASP8:5UTR&CASP8:5UTRint&CASP8:5UTRinta&CASP8:M1T&CASP8:M1del;CSQ_CADD_PHRED=2.553 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,7:90:0.07778:65:-49.318:0.1892:0,2,1,3,0,1,17,27,7,15,11,13:99.729:100 +2 202122956 . T C 100 PASS DP=90;CSQ_Allele=C;CSQ_SYMBOL=CASP8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/9;CSQ_Feature=NM_001228.4;CSQ_HGVSc=NM_001228.4:c.-26-8228T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.202122956T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=402493;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1150;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.0372747;CSQ_gnomADe_AC=12094;CSQ_gnomADe_AN=245892;CSQ_gnomADe_AF=0.0491842;CSQ_gnomADe_Hom=483;CSQ_COSMICcMuts=COSV99965599&COSV99965599&COSV99965599&COSV99965599&COSV99965599&COSV99965599&COSV99965599;CSQ_COSMICncMuts=COSV99965599&COSV99965599&COSV99965599;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CASP8:5UTR&CASP8:5UTRint&CASP8:5UTRinta&CASP8:M1T&CASP8:M1del;CSQ_CADD_PHRED=2.553 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,7:90:0.07778:65:-49.318:0.1892:0,2,1,3,0,1,17,27,7,15,11,13:99.729:100 +2 202122995 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=CASP8;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001080125.2;CSQ_HGVSc=NM_001080125.2:c.41A>G;CSQ_HGVSp=NP_001073594.1:p.Lys14Arg;CSQ_HGVSg=2:g.202122995A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=402492;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_2B¬_specified¬_provided;CSQ_gnomADg_AC=20381;CSQ_gnomADg_AN=30798;CSQ_gnomADg_AF=0.661764;CSQ_gnomADe_AC=162482;CSQ_gnomADe_AN=246142;CSQ_gnomADe_AF=0.660115;CSQ_gnomADe_Hom=54237;CSQ_COSMICcMuts=COSV51848843&COSV51848843&COSV51848843&COSV51848843&COSV51848843&COSV51848843&COSV51848843;CSQ_COSMICncMuts=COSV51848843&COSV51848843&COSV51848843;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.123;CSQ_Mastermind_MMID3=CASP8:5UTR&CASP8:5UTRint&CASP8:5UTRinta&CASP8:K14R;CSQ_CADD_PHRED=9.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,83:122:0.68033:65:-100:0.1348:13,36,6,16,4,8,19,48,11,18,11,15:100:100 +2 202122995 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=CASP8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/9;CSQ_Feature=NM_001228.4;CSQ_HGVSc=NM_001228.4:c.-26-8189A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.202122995A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=402492;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_2B¬_specified¬_provided;CSQ_gnomADg_AC=20381;CSQ_gnomADg_AN=30798;CSQ_gnomADg_AF=0.661764;CSQ_gnomADe_AC=162482;CSQ_gnomADe_AN=246142;CSQ_gnomADe_AF=0.660115;CSQ_gnomADe_Hom=54237;CSQ_COSMICcMuts=COSV51848843&COSV51848843&COSV51848843&COSV51848843&COSV51848843&COSV51848843&COSV51848843;CSQ_COSMICncMuts=COSV51848843&COSV51848843&COSV51848843;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CASP8:5UTR&CASP8:5UTRint&CASP8:5UTRinta&CASP8:K14R;CSQ_CADD_PHRED=9.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,83:122:0.68033:65:-100:0.1348:13,36,6,16,4,8,19,48,11,18,11,15:100:100 +2 202136289 . CTTT C 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=CASP8;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_001080125.2;CSQ_HGVSc=NM_001080125.2:c.535_537del;CSQ_HGVSp=NP_001073594.1:p.Phe179del;CSQ_HGVSg=2:g.202136291_202136293del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51846372&COSV51846372&COSV51846372&COSV51846372&COSV51846372&COSV51846372&COSV51846372&COSV51846372;CSQ_COSMICncMuts=COSV51846372&COSV51846372&COSV51846372;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,17:118:0.14407:65:-100:0:5,3,2,3,2,2,22,31,16,23,10,16:100:100 +2 202136289 . CTTT C 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=CASP8;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001228.4;CSQ_HGVSc=NM_001228.4:c.454_456del;CSQ_HGVSp=NP_001219.2:p.Phe152del;CSQ_HGVSg=2:g.202136291_202136293del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51846372&COSV51846372&COSV51846372&COSV51846372&COSV51846372&COSV51846372&COSV51846372&COSV51846372;CSQ_COSMICncMuts=COSV51846372&COSV51846372&COSV51846372;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,17:118:0.14407:65:-100:0:5,3,2,3,2,2,22,31,16,23,10,16:100:100 +2 202149589 . G C 100 PASS DP=99;CSQ_Allele=C;CSQ_SYMBOL=CASP8;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/9;CSQ_INTRON=.;CSQ_Feature=NM_001080125.2;CSQ_HGVSc=NM_001080125.2:c.1030G>C;CSQ_HGVSp=NP_001073594.1:p.Asp344His;CSQ_HGVSg=2:g.202149589G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=7762;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_2B&Breast_cancer&_protection_against¬_specified¬_provided;CSQ_gnomADg_AC=3010;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0973354;CSQ_gnomADe_AC=22122;CSQ_gnomADe_AN=246230;CSQ_gnomADe_AF=0.0898428;CSQ_gnomADe_Hom=1269;CSQ_COSMICcMuts=COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733;CSQ_COSMICncMuts=COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.000;CSQ_Mastermind_MMID3=CASP8:D270H&CASP8:D285H&CASP8:D302H&CASP8:D344H;CSQ_CADD_PHRED=0.680 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,9:99:0.09091:65:-100:0.175:3,1,2,0,1,2,15,27,17,10,12,18:100:100 +2 202149589 . G C 100 PASS DP=99;CSQ_Allele=C;CSQ_SYMBOL=CASP8;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_001228.4;CSQ_HGVSc=NM_001228.4:c.904G>C;CSQ_HGVSp=NP_001219.2:p.Asp302His;CSQ_HGVSg=2:g.202149589G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=7762;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_2B&Breast_cancer&_protection_against¬_specified¬_provided;CSQ_gnomADg_AC=3010;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0973354;CSQ_gnomADe_AC=22122;CSQ_gnomADe_AN=246230;CSQ_gnomADe_AF=0.0898428;CSQ_gnomADe_Hom=1269;CSQ_COSMICcMuts=COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733;CSQ_COSMICncMuts=COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733&COSV51850733;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.000;CSQ_Mastermind_MMID3=CASP8:D270H&CASP8:D285H&CASP8:D302H&CASP8:D344H;CSQ_CADD_PHRED=0.680 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,9:99:0.09091:65:-100:0.175:3,1,2,0,1,2,15,27,17,10,12,18:100:100 +2 202149671 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=CASP8;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/9;CSQ_INTRON=.;CSQ_Feature=NM_001080125.2;CSQ_HGVSc=NM_001080125.2:c.1112G>A;CSQ_HGVSp=NP_001073594.1:p.Cys371Tyr;CSQ_HGVSg=2:g.202149671G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679;CSQ_COSMICncMuts=COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=0.605;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,7:119:0.05882:65:-98.5248:0.1793:4,1,0,2,0,0,22,33,8,22,11,23:82.925:100 +2 202149671 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=CASP8;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_001228.4;CSQ_HGVSc=NM_001228.4:c.986G>A;CSQ_HGVSp=NP_001219.2:p.Cys329Tyr;CSQ_HGVSg=2:g.202149671G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679;CSQ_COSMICncMuts=COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679&COSV51857679;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=0.605;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,7:119:0.05882:65:-98.5248:0.1793:4,1,0,2,0,0,22,33,8,22,11,23:82.925:100 +2 204732714 . A G 100 PASS DP=114;CSQ_Allele=G;CSQ_SYMBOL=CTLA4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_001037631.3;CSQ_HGVSc=NM_001037631.3:c.49A>G;CSQ_HGVSp=NP_001032720.1:p.Thr17Ala;CSQ_HGVSg=2:g.204732714A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=16921;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hashimoto_thyroiditis&_susceptibility_to&TYPE_1_DIABETES_MELLITUS_12&_SUSCEPTIBILITY_TO&Thyroid-associated_orbitopathy&_susceptibility_to&Celiac_disease&_susceptibility_to&_3&Autoimmune_lymphoproliferative_syndrome_due_to_CTLA4_haploinsuffiency&Systemic_lupus_erythematosus&_susceptibility_to¬_specified¬_provided;CSQ_gnomADg_AC=13128;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.424992;CSQ_gnomADe_AC=102096;CSQ_gnomADe_AN=246014;CSQ_gnomADe_AF=0.415001;CSQ_gnomADe_Hom=22446;CSQ_COSMICcMuts=COSV55592023&COSV55592023&COSV55592023;CSQ_COSMICncMuts=COSV55592023;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.007;CSQ_Mastermind_MMID3=CTLA4:T17A;CSQ_CADD_PHRED=0.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,68:114:0.59649:65:-100:0.1231:9,16,7,17,2,17,20,29,9,27,6,23:100:100 +2 204732714 . A G 100 PASS DP=114;CSQ_Allele=G;CSQ_SYMBOL=CTLA4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/4;CSQ_INTRON=.;CSQ_Feature=NM_005214.5;CSQ_HGVSc=NM_005214.5:c.49A>G;CSQ_HGVSp=NP_005205.2:p.Thr17Ala;CSQ_HGVSg=2:g.204732714A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=16921;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hashimoto_thyroiditis&_susceptibility_to&TYPE_1_DIABETES_MELLITUS_12&_SUSCEPTIBILITY_TO&Thyroid-associated_orbitopathy&_susceptibility_to&Celiac_disease&_susceptibility_to&_3&Autoimmune_lymphoproliferative_syndrome_due_to_CTLA4_haploinsuffiency&Systemic_lupus_erythematosus&_susceptibility_to¬_specified¬_provided;CSQ_gnomADg_AC=13128;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.424992;CSQ_gnomADe_AC=102096;CSQ_gnomADe_AN=246014;CSQ_gnomADe_AF=0.415001;CSQ_gnomADe_Hom=22446;CSQ_COSMICcMuts=COSV55592023&COSV55592023&COSV55592023;CSQ_COSMICncMuts=COSV55592023;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.007;CSQ_Mastermind_MMID3=CTLA4:T17A;CSQ_CADD_PHRED=0.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,68:114:0.59649:65:-100:0.1231:9,16,7,17,2,17,20,29,9,27,6,23:100:100 +2 204736108 . A G 100 PASS DP=106;CSQ_Allele=G;CSQ_SYMBOL=CTLA4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001037631.3;CSQ_HGVSc=NM_001037631.3:c.457+452A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.204736108A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55592051&COSV55592051&COSV55592051&COSV55592051;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,9:106:0.08491:65:-48.8722:0.1654:0,1,3,4,0,1,16,38,14,18,5,15:100:100 +2 204736108 . A G 100 PASS DP=106;CSQ_Allele=G;CSQ_SYMBOL=CTLA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_005214.5;CSQ_HGVSc=NM_005214.5:c.465A>G;CSQ_HGVSp=NP_005205.2:p.Glu155%3D;CSQ_HGVSg=2:g.204736108A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55592051&COSV55592051&COSV55592051&COSV55592051;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,9:106:0.08491:65:-48.8722:0.1654:0,1,3,4,0,1,16,38,14,18,5,15:100:100 +2 209106786 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=IDH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_001282386.1;CSQ_HGVSc=NM_001282386.1:c.782C>T;CSQ_HGVSp=NP_001269315.1:p.Ser261Leu;CSQ_HGVSg=2:g.209106786G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61615817&COSV61615817&COSV61615817;CSQ_COSMICncMuts=COSV61615817&COSV61615817;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=0.600;CSQ_Mastermind_MMID3=IDH1:S261L;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,9:135:0.06667:65:-100:0.0753:0,3,1,4,1,0,18,44,12,23,12,26:100:100 +2 209106786 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=IDH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_001282387.1;CSQ_HGVSc=NM_001282387.1:c.782C>T;CSQ_HGVSp=NP_001269316.1:p.Ser261Leu;CSQ_HGVSg=2:g.209106786G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61615817&COSV61615817&COSV61615817;CSQ_COSMICncMuts=COSV61615817&COSV61615817;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=0.600;CSQ_Mastermind_MMID3=IDH1:S261L;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,9:135:0.06667:65:-100:0.0753:0,3,1,4,1,0,18,44,12,23,12,26:100:100 +2 209108317 . C T 100 PASS DP=113;CSQ_Allele=T;CSQ_SYMBOL=IDH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001282386.1;CSQ_HGVSc=NM_001282386.1:c.532G>A;CSQ_HGVSp=NP_001269315.1:p.Val178Ile;CSQ_HGVSg=2:g.209108317C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134520;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1716;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0554192;CSQ_gnomADe_AC=11965;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.0486078;CSQ_gnomADe_Hom=364;CSQ_COSMICcMuts=COSV61616229&COSV61616229&COSV61616229;CSQ_COSMICncMuts=COSV61616229&COSV61616229&COSV61616229&COSV61616229;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.421;CSQ_Mastermind_MMID3=IDH1:V178I;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,17:113:0.15044:65:-100:0.124:3,4,4,2,3,1,19,32,13,15,11,23:100:100 +2 209108317 . C T 100 PASS DP=113;CSQ_Allele=T;CSQ_SYMBOL=IDH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001282387.1;CSQ_HGVSc=NM_001282387.1:c.532G>A;CSQ_HGVSp=NP_001269316.1:p.Val178Ile;CSQ_HGVSg=2:g.209108317C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134520;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1716;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0554192;CSQ_gnomADe_AC=11965;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.0486078;CSQ_gnomADe_Hom=364;CSQ_COSMICcMuts=COSV61616229&COSV61616229&COSV61616229;CSQ_COSMICncMuts=COSV61616229&COSV61616229&COSV61616229&COSV61616229;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.421;CSQ_Mastermind_MMID3=IDH1:V178I;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,17:113:0.15044:65:-100:0.124:3,4,4,2,3,1,19,32,13,15,11,23:100:100 +2 209113192 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=IDH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001282386.1;CSQ_HGVSc=NM_001282386.1:c.315C>T;CSQ_HGVSp=NP_001269315.1:p.Gly105%3D;CSQ_HGVSg=2:g.209113192G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402961;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1956;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0632028;CSQ_gnomADe_AC=12436;CSQ_gnomADe_AN=246250;CSQ_gnomADe_AF=0.0505015;CSQ_gnomADe_Hom=415;CSQ_COSMICcMuts=COSV61616039&COSV61616039&COSV61616039;CSQ_COSMICncMuts=COSV61616039&COSV61616039&COSV61616039;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.18;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IDH1:G105G;CSQ_CADD_PHRED=13.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,25:152:0.16447:65:-100:0.1214:2,9,2,7,0,5,19,54,15,26,10,28:100:100 +2 209113192 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=IDH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001282387.1;CSQ_HGVSc=NM_001282387.1:c.315C>T;CSQ_HGVSp=NP_001269316.1:p.Gly105%3D;CSQ_HGVSg=2:g.209113192G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402961;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1956;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0632028;CSQ_gnomADe_AC=12436;CSQ_gnomADe_AN=246250;CSQ_gnomADe_AF=0.0505015;CSQ_gnomADe_Hom=415;CSQ_COSMICcMuts=COSV61616039&COSV61616039&COSV61616039;CSQ_COSMICncMuts=COSV61616039&COSV61616039&COSV61616039;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.18;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IDH1:G105G;CSQ_CADD_PHRED=13.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,25:152:0.16447:65:-100:0.1214:2,9,2,7,0,5,19,54,15,26,10,28:100:100 +2 212251864 . T C 100 PASS DP=80;CSQ_Allele=C;CSQ_SYMBOL=ERBB4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=26/27;CSQ_INTRON=.;CSQ_Feature=NM_001042599.1;CSQ_HGVSc=NM_001042599.1:c.3147A>G;CSQ_HGVSp=NP_001036064.1:p.Val1049%3D;CSQ_HGVSg=2:g.212251864T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1210024;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=8337;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.269823;CSQ_gnomADe_AC=73672;CSQ_gnomADe_AN=245220;CSQ_gnomADe_AF=0.300432;CSQ_gnomADe_Hom=11872;CSQ_COSMICcMuts=COSV61463116&COSV61463116&COSV61463116;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB4:V1049V&ERBB4:V1065V;CSQ_CADD_PHRED=0.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,9:80:0.1125:65:-100:0.1398:1,2,0,4,1,1,9,22,9,22,5,13:93.572:100 +2 212251864 . T C 100 PASS DP=80;CSQ_Allele=C;CSQ_SYMBOL=ERBB4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=27/28;CSQ_INTRON=.;CSQ_Feature=NM_005235.3;CSQ_HGVSc=NM_005235.3:c.3195A>G;CSQ_HGVSp=NP_005226.1:p.Val1065%3D;CSQ_HGVSg=2:g.212251864T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1210024;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=8337;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.269823;CSQ_gnomADe_AC=73672;CSQ_gnomADe_AN=245220;CSQ_gnomADe_AF=0.300432;CSQ_gnomADe_Hom=11872;CSQ_COSMICcMuts=COSV61463116&COSV61463116&COSV61463116;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB4:V1049V&ERBB4:V1065V;CSQ_CADD_PHRED=0.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,9:80:0.1125:65:-100:0.1398:1,2,0,4,1,1,9,22,9,22,5,13:93.572:100 +2 215617178 . C G 100 PASS DP=108;CSQ_Allele=G;CSQ_SYMBOL=BARD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_000465.4;CSQ_HGVSc=NM_000465.4:c.1670G>C;CSQ_HGVSp=NP_000456.2:p.Cys557Ser;CSQ_HGVSg=2:g.215617178C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=8045;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Breast_cancer&_susceptibility_to¬_specified;CSQ_gnomADg_AC=432;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0139481;CSQ_gnomADe_AC=3765;CSQ_gnomADe_AN=246044;CSQ_gnomADe_AF=0.0153021;CSQ_gnomADe_Hom=54;CSQ_COSMICcMuts=COSV104530488&COSV104530488;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.142;CSQ_Mastermind_MMID3=BARD1:C106S&BARD1:C538S&BARD1:C557S&BARD1:C87S&BARD1:G122int&BARD1:G122inta;CSQ_CADD_PHRED=5.906 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,6:108:0.05556:65:-99.7552:0.1692:1,1,0,2,1,1,14,42,8,18,9,17:75.764:100 +2 215617178 . C G 100 PASS DP=108;CSQ_Allele=G;CSQ_SYMBOL=BARD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001282543.2;CSQ_HGVSc=NM_001282543.2:c.1613G>C;CSQ_HGVSp=NP_001269472.1:p.Cys538Ser;CSQ_HGVSg=2:g.215617178C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=8045;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Breast_cancer&_susceptibility_to¬_specified;CSQ_gnomADg_AC=432;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0139481;CSQ_gnomADe_AC=3765;CSQ_gnomADe_AN=246044;CSQ_gnomADe_AF=0.0153021;CSQ_gnomADe_Hom=54;CSQ_COSMICcMuts=COSV104530488&COSV104530488;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.142;CSQ_Mastermind_MMID3=BARD1:C106S&BARD1:C538S&BARD1:C557S&BARD1:C87S&BARD1:G122int&BARD1:G122inta;CSQ_CADD_PHRED=5.906 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,6:108:0.05556:65:-99.7552:0.1692:1,1,0,2,1,1,14,42,8,18,9,17:75.764:100 +2 215632255 . CA TG 100 PASS DP=93;CSQ_Allele=TG;CSQ_SYMBOL=BARD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_000465.4;CSQ_HGVSc=NM_000465.4:c.1518_1519inv;CSQ_HGVSp=NP_000456.2:p.Val507Met;CSQ_HGVSg=2:g.215632255_215632256inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=215471;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105837301&COSV105837301;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BARD1:C53int&BARD1:C53inta&BARD1:G122int&BARD1:G122intd&BARD1:S72int&BARD1:S72inta&BARD1:V488M&BARD1:V507M;CSQ_CADD_PHRED=10.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,34:93:0.36559:65:-100:0:4,14,3,9,2,2,40,66,8,32,16,24:100:100 +2 215632255 . CA TG 100 PASS DP=93;CSQ_Allele=TG;CSQ_SYMBOL=BARD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001282543.2;CSQ_HGVSc=NM_001282543.2:c.1461_1462inv;CSQ_HGVSp=NP_001269472.1:p.Val488Met;CSQ_HGVSg=2:g.215632255_215632256inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=215471;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105837301&COSV105837301;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BARD1:C53int&BARD1:C53inta&BARD1:G122int&BARD1:G122intd&BARD1:S72int&BARD1:S72inta&BARD1:V488M&BARD1:V507M;CSQ_CADD_PHRED=10.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,34:93:0.36559:65:-100:0:4,14,3,9,2,2,40,66,8,32,16,24:100:100 +2 215632256 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=BARD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_000465.4;CSQ_HGVSc=NM_000465.4:c.1518T>C;CSQ_HGVSp=NP_000456.2:p.His506%3D;CSQ_HGVSg=2:g.215632256A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183704;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=23664;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.765825;CSQ_gnomADe_AC=201220;CSQ_gnomADe_AN=246078;CSQ_gnomADe_AF=0.817708;CSQ_gnomADe_Hom=83030;CSQ_COSMICcMuts=COSV53617490&COSV53617490;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BARD1:C53int&BARD1:C53inta&BARD1:G122int&BARD1:G122intd&BARD1:H487H&BARD1:H506H&BARD1:S72int&BARD1:S72inta;CSQ_CADD_PHRED=4.570 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,24:94:0.25532:65:-100:0.1966:4,5,1,5,2,7,19,34,4,15,8,14:100:100 +2 215632256 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=BARD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001282543.2;CSQ_HGVSc=NM_001282543.2:c.1461T>C;CSQ_HGVSp=NP_001269472.1:p.His487%3D;CSQ_HGVSg=2:g.215632256A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183704;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=23664;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.765825;CSQ_gnomADe_AC=201220;CSQ_gnomADe_AN=246078;CSQ_gnomADe_AF=0.817708;CSQ_gnomADe_Hom=83030;CSQ_COSMICcMuts=COSV53617490&COSV53617490;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BARD1:C53int&BARD1:C53inta&BARD1:G122int&BARD1:G122intd&BARD1:H487H&BARD1:H506H&BARD1:S72int&BARD1:S72inta;CSQ_CADD_PHRED=4.570 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,24:94:0.25532:65:-100:0.1966:4,5,1,5,2,7,19,34,4,15,8,14:100:100 +2 215645464 . C G 100 PASS DP=115;CSQ_Allele=G;CSQ_SYMBOL=BARD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_000465.4;CSQ_HGVSc=NM_000465.4:c.1134G>C;CSQ_HGVSp=NP_000456.2:p.Arg378Ser;CSQ_HGVSg=2:g.215645464C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=142769;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=17011;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.551947;CSQ_gnomADe_AC=134062;CSQ_gnomADe_AN=246028;CSQ_gnomADe_AF=0.544905;CSQ_gnomADe_Hom=38019;CSQ_COSMICcMuts=COSV53612030&COSV53612030;CSQ_COSMICncMuts=COSV53612030;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=0.111;CSQ_Mastermind_MMID3=BARD1:C53int&BARD1:C53inta&BARD1:G122int&BARD1:G122intd&BARD1:R359S&BARD1:R378S&BARD1:S72int&BARD1:S72intd;CSQ_CADD_PHRED=9.277 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,66:115:0.57391:65:-100:0.1667:10,30,4,10,4,8,18,48,9,15,7,18:100:100 +2 215645464 . C G 100 PASS DP=115;CSQ_Allele=G;CSQ_SYMBOL=BARD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001282543.2;CSQ_HGVSc=NM_001282543.2:c.1077G>C;CSQ_HGVSp=NP_001269472.1:p.Arg359Ser;CSQ_HGVSg=2:g.215645464C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=142769;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=17011;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.551947;CSQ_gnomADe_AC=134062;CSQ_gnomADe_AN=246028;CSQ_gnomADe_AF=0.544905;CSQ_gnomADe_Hom=38019;CSQ_COSMICcMuts=COSV53612030&COSV53612030;CSQ_COSMICncMuts=COSV53612030;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=0.111;CSQ_Mastermind_MMID3=BARD1:C53int&BARD1:C53inta&BARD1:G122int&BARD1:G122intd&BARD1:R359S&BARD1:R378S&BARD1:S72int&BARD1:S72intd;CSQ_CADD_PHRED=9.277 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,66:115:0.57391:65:-100:0.1667:10,30,4,10,4,8,18,48,9,15,7,18:100:100 +2 215645545 . C G 100 PASS DP=96;CSQ_Allele=G;CSQ_SYMBOL=BARD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_000465.4;CSQ_HGVSc=NM_000465.4:c.1053G>C;CSQ_HGVSp=NP_000456.2:p.Thr351%3D;CSQ_HGVSg=2:g.215645545C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=142025;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=5684;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.183829;CSQ_gnomADe_AC=50713;CSQ_gnomADe_AN=246002;CSQ_gnomADe_AF=0.206149;CSQ_gnomADe_Hom=5414;CSQ_COSMICcMuts=COSV53608946&COSV53608946;CSQ_COSMICncMuts=COSV53608946;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BARD1:C53int&BARD1:C53inta&BARD1:G122int&BARD1:G122intd&BARD1:S72int&BARD1:S72intd&BARD1:T332T&BARD1:T351T;CSQ_CADD_PHRED=0.088 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,9:96:0.09375:65:-100:0.1933:1,2,0,4,0,2,8,41,3,18,5,21:100:100 +2 215645545 . C G 100 PASS DP=96;CSQ_Allele=G;CSQ_SYMBOL=BARD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001282543.2;CSQ_HGVSc=NM_001282543.2:c.996G>C;CSQ_HGVSp=NP_001269472.1:p.Thr332%3D;CSQ_HGVSg=2:g.215645545C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=142025;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=5684;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.183829;CSQ_gnomADe_AC=50713;CSQ_gnomADe_AN=246002;CSQ_gnomADe_AF=0.206149;CSQ_gnomADe_Hom=5414;CSQ_COSMICcMuts=COSV53608946&COSV53608946;CSQ_COSMICncMuts=COSV53608946;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BARD1:C53int&BARD1:C53inta&BARD1:G122int&BARD1:G122intd&BARD1:S72int&BARD1:S72intd&BARD1:T332T&BARD1:T351T;CSQ_CADD_PHRED=0.088 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,9:96:0.09375:65:-100:0.1933:1,2,0,4,0,2,8,41,3,18,5,21:100:100 +2 215674224 . G A 100 PASS DP=77;CSQ_Allele=A;CSQ_SYMBOL=BARD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/11;CSQ_INTRON=.;CSQ_Feature=NM_000465.4;CSQ_HGVSc=NM_000465.4:c.70C>T;CSQ_HGVSp=NP_000456.2:p.Pro24Ser;CSQ_HGVSg=2:g.215674224G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183698;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=10518;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.34083;CSQ_gnomADe_AC=86043;CSQ_gnomADe_AN=223960;CSQ_gnomADe_AF=0.384189;CSQ_gnomADe_Hom=16630;CSQ_COSMICcMuts=COSV53608734&COSV53608734;CSQ_COSMICncMuts=COSV53608734;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.260;CSQ_Mastermind_MMID3=BARD1:P24S;CSQ_CADD_PHRED=17.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,18:77:0.23377:65:-100:0.2376:2,9,2,2,1,2,16,28,6,9,9,9:100:100 +2 215674224 . G A 100 PASS DP=77;CSQ_Allele=A;CSQ_SYMBOL=BARD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/10;CSQ_INTRON=.;CSQ_Feature=NM_001282543.2;CSQ_HGVSc=NM_001282543.2:c.70C>T;CSQ_HGVSp=NP_001269472.1:p.Pro24Ser;CSQ_HGVSg=2:g.215674224G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183698;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=10518;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.34083;CSQ_gnomADe_AC=86043;CSQ_gnomADe_AN=223960;CSQ_gnomADe_AF=0.384189;CSQ_gnomADe_Hom=16630;CSQ_COSMICcMuts=COSV53608734&COSV53608734;CSQ_COSMICncMuts=COSV53608734;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.260;CSQ_Mastermind_MMID3=BARD1:P24S;CSQ_CADD_PHRED=17.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,18:77:0.23377:65:-100:0.2376:2,9,2,2,1,2,16,28,6,9,9,9:100:100 +2 220439678 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=INHA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_002191.4;CSQ_HGVSc=NM_002191.4:c.531C>T;CSQ_HGVSp=NP_002182.1:p.Ala177%3D;CSQ_HGVSg=2:g.220439678C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5372;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.173772;CSQ_gnomADe_AC=46162;CSQ_gnomADe_AN=245796;CSQ_gnomADe_AF=0.187806;CSQ_gnomADe_Hom=4654;CSQ_COSMICcMuts=COSV54715323;CSQ_COSMICncMuts=COSV54715323&COSV54715323&COSV54715323&COSV54715323&COSV54715323&COSV54715323&COSV54715323&COSV54715323&COSV54715323;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INHA:A177A;CSQ_CADD_PHRED=0.575 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,23:112:0.20536:65:-100:0.1642:2,9,2,1,3,6,22,34,10,18,8,20:100:100 +2 220439876 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=INHA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_002191.4;CSQ_HGVSc=NM_002191.4:c.729C>T;CSQ_HGVSp=NP_002182.1:p.Pro243%3D;CSQ_HGVSg=2:g.220439876C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246126;CSQ_gnomADe_AF=4.06296e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54728404;CSQ_COSMICncMuts=COSV54728404&COSV54728404&COSV54728404&COSV54728404&COSV54728404&COSV54728404&COSV54728404&COSV54728404&COSV54728404&COSV54728404;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.744 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,13:132:0.09848:65:-100:0.0833:0,8,0,3,0,2,22,44,10,21,12,23:100:100 +2 223064768 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.*1359C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223064768G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4606;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.148898;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=6.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,32:127:0.25197:65:-100:0.1056:5,12,6,5,3,1,15,51,16,24,11,10:100:100 +2 223064768 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_181457.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223064768G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4606;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.148898;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,32:127:0.25197:65:-100:0.1056:5,12,6,5,3,1,15,51,16,24,11,10:100:100 +2 223064768 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.*1125C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223064768G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4606;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.148898;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=6.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,32:127:0.25197:65:-100:0.1056:5,12,6,5,3,1,15,51,16,24,11,10:100:100 +2 223064768 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.*1355C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223064768G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4606;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.148898;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=6.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,32:127:0.25197:65:-100:0.1056:5,12,6,5,3,1,15,51,16,24,11,10:100:100 +2 223065404 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.*723G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065404C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2108;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0681407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60591104&COSV60591104&COSV60591104;CSQ_COSMICncMuts=COSV60591104&COSV60591104&COSV60591104&COSV60591104&COSV60591104;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=3.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,15:111:0.13514:65:-100:0.1716:3,5,1,3,1,2,15,45,10,24,7,10:100:100 +2 223065404 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_181457.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065404C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2108;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0681407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60591104&COSV60591104&COSV60591104;CSQ_COSMICncMuts=COSV60591104&COSV60591104&COSV60591104&COSV60591104&COSV60591104;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,15:111:0.13514:65:-100:0.1716:3,5,1,3,1,2,15,45,10,24,7,10:100:100 +2 223065404 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.*489G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065404C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2108;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0681407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60591104&COSV60591104&COSV60591104;CSQ_COSMICncMuts=COSV60591104&COSV60591104&COSV60591104&COSV60591104&COSV60591104;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=3.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,15:111:0.13514:65:-100:0.1716:3,5,1,3,1,2,15,45,10,24,7,10:100:100 +2 223065404 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.*719G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065404C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2108;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0681407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60591104&COSV60591104&COSV60591104;CSQ_COSMICncMuts=COSV60591104&COSV60591104&COSV60591104&COSV60591104&COSV60591104;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=3.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,15:111:0.13514:65:-100:0.1716:3,5,1,3,1,2,15,45,10,24,7,10:100:100 +2 223065552 . G C 100 PASS DP=110;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.*575C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065552G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=188;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00607;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,6:110:0.05455:65:-100:0.1729:2,2,0,2,0,0,15,42,5,15,11,22:71.96:100 +2 223065552 . G C 100 PASS DP=110;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_181457.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065552G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=188;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00607;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,6:110:0.05455:65:-100:0.1729:2,2,0,2,0,0,15,42,5,15,11,22:71.96:100 +2 223065552 . G C 100 PASS DP=110;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.*341C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065552G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=188;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00607;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,6:110:0.05455:65:-100:0.1729:2,2,0,2,0,0,15,42,5,15,11,22:71.96:100 +2 223065552 . G C 100 PASS DP=110;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.*571C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065552G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=188;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00607;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,6:110:0.05455:65:-100:0.1729:2,2,0,2,0,0,15,42,5,15,11,22:71.96:100 +2 223065870 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.*257G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065870C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1244902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4590;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.148611;CSQ_gnomADe_AC=46892;CSQ_gnomADe_AN=245240;CSQ_gnomADe_AF=0.191209;CSQ_gnomADe_Hom=4866;CSQ_COSMICcMuts=COSV60588606&COSV60588606&COSV60588606&COSV60588606&COSV60588606;CSQ_COSMICncMuts=COSV60588606&COSV60588606&COSV60588606;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=9.252 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,28:123:0.22764:65:-100:0.1022:3,7,3,6,1,8,20,34,13,31,6,19:100:100 +2 223065870 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_181457.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065870C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1244902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4590;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.148611;CSQ_gnomADe_AC=46892;CSQ_gnomADe_AN=245240;CSQ_gnomADe_AF=0.191209;CSQ_gnomADe_Hom=4866;CSQ_COSMICcMuts=COSV60588606&COSV60588606&COSV60588606&COSV60588606&COSV60588606;CSQ_COSMICncMuts=COSV60588606&COSV60588606&COSV60588606;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.252 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,28:123:0.22764:65:-100:0.1022:3,7,3,6,1,8,20,34,13,31,6,19:100:100 +2 223065870 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.*23G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065870C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1244902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4590;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.148611;CSQ_gnomADe_AC=46892;CSQ_gnomADe_AN=245240;CSQ_gnomADe_AF=0.191209;CSQ_gnomADe_Hom=4866;CSQ_COSMICcMuts=COSV60588606&COSV60588606&COSV60588606&COSV60588606&COSV60588606;CSQ_COSMICncMuts=COSV60588606&COSV60588606&COSV60588606;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=9.252 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,28:123:0.22764:65:-100:0.1022:3,7,3,6,1,8,20,34,13,31,6,19:100:100 +2 223065870 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.*253G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223065870C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1244902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4590;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.148611;CSQ_gnomADe_AC=46892;CSQ_gnomADe_AN=245240;CSQ_gnomADe_AF=0.191209;CSQ_gnomADe_Hom=4866;CSQ_COSMICcMuts=COSV60588606&COSV60588606&COSV60588606&COSV60588606&COSV60588606;CSQ_COSMICncMuts=COSV60588606&COSV60588606&COSV60588606;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:3UTR;CSQ_CADD_PHRED=9.252 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,28:123:0.22764:65:-100:0.1022:3,7,3,6,1,8,20,34,13,31,6,19:100:100 +2 223066919 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-10G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223066919C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=226998;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3232;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.104508;CSQ_gnomADe_AC=20418;CSQ_gnomADe_AN=189056;CSQ_gnomADe_AF=0.108;CSQ_gnomADe_Hom=1365;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=11.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:132:0.09848:65:-100:0.12:1,5,1,2,0,4,25,42,9,27,9,20:100:100 +2 223066919 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-10G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223066919C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=226998;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3232;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.104508;CSQ_gnomADe_AC=20418;CSQ_gnomADe_AN=189056;CSQ_gnomADe_AF=0.108;CSQ_gnomADe_Hom=1365;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=11.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:132:0.09848:65:-100:0.12:1,5,1,2,0,4,25,42,9,27,9,20:100:100 +2 223066919 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-10G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223066919C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=226998;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3232;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.104508;CSQ_gnomADe_AC=20418;CSQ_gnomADe_AN=189056;CSQ_gnomADe_AF=0.108;CSQ_gnomADe_Hom=1365;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=11.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:132:0.09848:65:-100:0.12:1,5,1,2,0,4,25,42,9,27,9,20:100:100 +2 223066919 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-758G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223066919C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=226998;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3232;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.104508;CSQ_gnomADe_AC=20418;CSQ_gnomADe_AN=189056;CSQ_gnomADe_AF=0.108;CSQ_gnomADe_Hom=1365;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=11.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:132:0.09848:65:-100:0.12:1,5,1,2,0,4,25,42,9,27,9,20:100:100 +2 223067731 . CATATATATATATATATATATAT C 100 PASS DP=17;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-844_1171-823del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223067754_223067775del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.961 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,5:17:0.29412:65:-55.4576:0:1,2,1,0,0,1,4,5,2,4,3,5:60.21:100 +2 223067731 . CATATATATATATATATATATAT C 100 PASS DP=17;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-844_1174-823del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223067754_223067775del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.961 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,5:17:0.29412:65:-55.4576:0:1,2,1,0,0,1,4,5,2,4,3,5:60.21:100 +2 223067731 . CATATATATATATATATATATAT C 100 PASS DP=17;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-844_1174-823del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223067754_223067775del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.961 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,5:17:0.29412:65:-55.4576:0:1,2,1,0,0,1,4,5,2,4,3,5:60.21:100 +2 223067731 . CATATATATATATATATATATAT C 100 PASS DP=17;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-1592_1174-1571del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223067754_223067775del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.961 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,5:17:0.29412:65:-55.4576:0:1,2,1,0,0,1,4,5,2,4,3,5:60.21:100 +2 223068134 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-1225G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068134C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.552 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,7:127:0.05512:65:-46.8709:0.1241:0,5,0,0,1,1,18,50,15,15,7,22:84.422:100 +2 223068134 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-1225G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068134C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.552 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,7:127:0.05512:65:-46.8709:0.1241:0,5,0,0,1,1,18,50,15,15,7,22:84.422:100 +2 223068134 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-1225G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068134C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.552 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,7:127:0.05512:65:-46.8709:0.1241:0,5,0,0,1,1,18,50,15,15,7,22:84.422:100 +2 223068134 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-1973G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068134C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.552 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,7:127:0.05512:65:-46.8709:0.1241:0,5,0,0,1,1,18,50,15,15,7,22:84.422:100 +2 223068286 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-1377C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068286G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17201;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.55822;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=1.853 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,56:112:0.5:65:-100:0.145:7,20,7,11,3,8,15,42,12,18,5,20:100:100 +2 223068286 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-1377C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068286G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17201;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.55822;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=1.853 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,56:112:0.5:65:-100:0.145:7,20,7,11,3,8,15,42,12,18,5,20:100:100 +2 223068286 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-1377C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068286G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17201;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.55822;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=1.853 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,56:112:0.5:65:-100:0.145:7,20,7,11,3,8,15,42,12,18,5,20:100:100 +2 223068286 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-2125C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068286G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17201;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.55822;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=1.853 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,56:112:0.5:65:-100:0.145:7,20,7,11,3,8,15,42,12,18,5,20:100:100 +2 223068821 . A T 100 PASS DP=92;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-1912T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068821A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9858;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.31965;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60586244&COSV60586244&COSV60586244&COSV60586244&COSV60586244&COSV60586244;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=3.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,15:92:0.16304:65:-100:0.1786:2,4,3,2,0,4,10,30,9,19,4,20:100:100 +2 223068821 . A T 100 PASS DP=92;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-1912T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068821A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9858;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.31965;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60586244&COSV60586244&COSV60586244&COSV60586244&COSV60586244&COSV60586244;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=3.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,15:92:0.16304:65:-100:0.1786:2,4,3,2,0,4,10,30,9,19,4,20:100:100 +2 223068821 . A T 100 PASS DP=92;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-1912T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068821A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9858;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.31965;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60586244&COSV60586244&COSV60586244&COSV60586244&COSV60586244&COSV60586244;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=3.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,15:92:0.16304:65:-100:0.1786:2,4,3,2,0,4,10,30,9,19,4,20:100:100 +2 223068821 . A T 100 PASS DP=92;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-2660T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223068821A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9858;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.31965;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60586244&COSV60586244&COSV60586244&COSV60586244&COSV60586244&COSV60586244;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=3.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,15:92:0.16304:65:-100:0.1786:2,4,3,2,0,4,10,30,9,19,4,20:100:100 +2 223069079 . T C 100 PASS DP=97;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-2170A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28577;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.923567;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,90:97:0.92784:65:-100:0.1339:12,34,8,16,4,16,14,36,8,16,6,17:100:100 +2 223069079 . T C 100 PASS DP=97;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-2170A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28577;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.923567;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,90:97:0.92784:65:-100:0.1339:12,34,8,16,4,16,14,36,8,16,6,17:100:100 +2 223069079 . T C 100 PASS DP=97;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-2170A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28577;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.923567;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,90:97:0.92784:65:-100:0.1339:12,34,8,16,4,16,14,36,8,16,6,17:100:100 +2 223069079 . T C 100 PASS DP=97;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-2918A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28577;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.923567;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,90:97:0.92784:65:-100:0.1339:12,34,8,16,4,16,14,36,8,16,6,17:100:100 +2 223069625 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069625T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11942;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.386573;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=17.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,38:119:0.31933:65:-100:0.0985:5,6,3,7,4,13,24,26,11,17,11,30:100:100 +2 223069625 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069625T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11942;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.386573;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=17.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,38:119:0.31933:65:-100:0.0985:5,6,3,7,4,13,24,26,11,17,11,30:100:100 +2 223069625 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-2716A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069625T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11942;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.386573;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=17.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,38:119:0.31933:65:-100:0.0985:5,6,3,7,4,13,24,26,11,17,11,30:100:100 +2 223069625 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-3464A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069625T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11942;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.386573;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=17.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,38:119:0.31933:65:-100:0.0985:5,6,3,7,4,13,24,26,11,17,11,30:100:100 +2 223069868 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-2959A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069868T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9840;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.318508;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=5.655 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1037:1,9,2,2,0,2,11,46,10,24,8,22:100:100 +2 223069868 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-2959A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069868T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9840;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.318508;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=5.655 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1037:1,9,2,2,0,2,11,46,10,24,8,22:100:100 +2 223069868 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-2959A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069868T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9840;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.318508;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=5.655 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1037:1,9,2,2,0,2,11,46,10,24,8,22:100:100 +2 223069868 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-3707A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223069868T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9840;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.318508;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=5.655 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1037:1,9,2,2,0,2,11,46,10,24,8,22:100:100 +2 223070813 . C T 100 PASS DP=95;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-3904G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223070813C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2105;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0682334;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=1.582 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,13:95:0.13684:65:-100:0.1121:3,3,0,2,1,4,18,31,3,19,4,20:100:100 +2 223070813 . C T 100 PASS DP=95;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-3904G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223070813C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2105;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0682334;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=1.582 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,13:95:0.13684:65:-100:0.1121:3,3,0,2,1,4,18,31,3,19,4,20:100:100 +2 223070813 . C T 100 PASS DP=95;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-3904G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223070813C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2105;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0682334;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=1.582 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,13:95:0.13684:65:-100:0.1121:3,3,0,2,1,4,18,31,3,19,4,20:100:100 +2 223070813 . C T 100 PASS DP=95;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-4652G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223070813C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2105;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0682334;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=1.582 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,13:95:0.13684:65:-100:0.1121:3,3,0,2,1,4,18,31,3,19,4,20:100:100 +2 223072019 . T A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-5110A>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072019T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3262;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.105553;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=21.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,7:103:0.06796:65:-100:0.1417:1,2,1,2,0,1,10,32,8,16,12,25:79.261:100 +2 223072019 . T A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-5110A>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072019T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3262;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.105553;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=21.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,7:103:0.06796:65:-100:0.1417:1,2,1,2,0,1,10,32,8,16,12,25:79.261:100 +2 223072019 . T A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-5110A>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072019T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3262;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.105553;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=21.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,7:103:0.06796:65:-100:0.1417:1,2,1,2,0,1,10,32,8,16,12,25:79.261:100 +2 223072019 . T A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-5858A>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072019T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3262;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.105553;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=21.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,7:103:0.06796:65:-100:0.1417:1,2,1,2,0,1,10,32,8,16,12,25:79.261:100 +2 223072155 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-5246T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072155A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=338;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0109251;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,20:126:0.15873:65:-100:0.1486:3,6,4,1,0,6,14,44,15,22,4,27:100:100 +2 223072155 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-5246T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072155A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=338;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0109251;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,20:126:0.15873:65:-100:0.1486:3,6,4,1,0,6,14,44,15,22,4,27:100:100 +2 223072155 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-5246T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072155A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=338;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0109251;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,20:126:0.15873:65:-100:0.1486:3,6,4,1,0,6,14,44,15,22,4,27:100:100 +2 223072155 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-5994T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072155A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=338;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0109251;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,20:126:0.15873:65:-100:0.1486:3,6,4,1,0,6,14,44,15,22,4,27:100:100 +2 223072301 . A T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-5392T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072301A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4604;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.148968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.818 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,24:128:0.1875:65:-100:0.1579:4,10,2,2,3,3,20,51,6,20,11,20:100:100 +2 223072301 . A T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-5392T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072301A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4604;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.148968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.818 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,24:128:0.1875:65:-100:0.1579:4,10,2,2,3,3,20,51,6,20,11,20:100:100 +2 223072301 . A T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-5392T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072301A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4604;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.148968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.818 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,24:128:0.1875:65:-100:0.1579:4,10,2,2,3,3,20,51,6,20,11,20:100:100 +2 223072301 . A T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-6140T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072301A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4604;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.148968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.818 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,24:128:0.1875:65:-100:0.1579:4,10,2,2,3,3,20,51,6,20,11,20:100:100 +2 223072553 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-5644T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072553A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6009;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.194605;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,26:126:0.20635:65:-100:0.0803:1,14,1,2,3,5,11,43,20,24,11,17:100:100 +2 223072553 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-5644T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072553A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6009;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.194605;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,26:126:0.20635:65:-100:0.0803:1,14,1,2,3,5,11,43,20,24,11,17:100:100 +2 223072553 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-5644T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072553A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6009;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.194605;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,26:126:0.20635:65:-100:0.0803:1,14,1,2,3,5,11,43,20,24,11,17:100:100 +2 223072553 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-6392T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072553A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6009;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.194605;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,26:126:0.20635:65:-100:0.0803:1,14,1,2,3,5,11,43,20,24,11,17:100:100 +2 223072682 . G GTA 100 PASS DP=105;CSQ_Allele=TA;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-5774_1171-5773insTA;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072683_223072684insAT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.2064:0:1,3,1,3,0,1,7,39,13,25,4,17:100:100 +2 223072682 . G GTA 100 PASS DP=105;CSQ_Allele=TA;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-5774_1174-5773insTA;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072683_223072684insAT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.2064:0:1,3,1,3,0,1,7,39,13,25,4,17:100:100 +2 223072682 . G GTA 100 PASS DP=105;CSQ_Allele=TA;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-5774_1174-5773insTA;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072683_223072684insAT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.2064:0:1,3,1,3,0,1,7,39,13,25,4,17:100:100 +2 223072682 . G GTA 100 PASS DP=105;CSQ_Allele=TA;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-6522_1174-6521insTA;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072683_223072684insAT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.2064:0:1,3,1,3,0,1,7,39,13,25,4,17:100:100 +2 223072684 . G A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-5775C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072684G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.094 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.0309:0.1532:1,3,1,3,0,1,7,40,12,25,5,16:97.471:100 +2 223072684 . G A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-5775C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072684G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.094 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.0309:0.1532:1,3,1,3,0,1,7,40,12,25,5,16:97.471:100 +2 223072684 . G A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-5775C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072684G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.094 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.0309:0.1532:1,3,1,3,0,1,7,40,12,25,5,16:97.471:100 +2 223072684 . G A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-6523C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223072684G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.094 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.0309:0.1532:1,3,1,3,0,1,7,40,12,25,5,16:97.471:100 +2 223074399 . C A 100 PASS DP=47;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-7490G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074399C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.226 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,10:47:0.21277:65:-100:0.4405:1,4,1,1,2,1,3,22,3,9,3,7:85.543:100 +2 223074399 . C A 100 PASS DP=47;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-7490G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074399C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.226 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,10:47:0.21277:65:-100:0.4405:1,4,1,1,2,1,3,22,3,9,3,7:85.543:100 +2 223074399 . C A 100 PASS DP=47;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-7490G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074399C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.226 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,10:47:0.21277:65:-100:0.4405:1,4,1,1,2,1,3,22,3,9,3,7:85.543:100 +2 223074399 . C A 100 PASS DP=47;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-8238G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074399C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.226 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,10:47:0.21277:65:-100:0.4405:1,4,1,1,2,1,3,22,3,9,3,7:85.543:100 +2 223074558 . CA C 100 PASS DP=68;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-7650del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074559del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2090;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.0678043;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,13:68:0.19118:65:-100:0:1,5,2,2,1,2,12,18,8,10,7,13:100:100 +2 223074558 . CA C 100 PASS DP=68;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-7650del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074559del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2090;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.0678043;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,13:68:0.19118:65:-100:0:1,5,2,2,1,2,12,18,8,10,7,13:100:100 +2 223074558 . CA C 100 PASS DP=68;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-7650del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074559del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2090;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.0678043;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,13:68:0.19118:65:-100:0:1,5,2,2,1,2,12,18,8,10,7,13:100:100 +2 223074558 . CA C 100 PASS DP=68;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-8398del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074559del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2090;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.0678043;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,13:68:0.19118:65:-100:0:1,5,2,2,1,2,12,18,8,10,7,13:100:100 +2 223074560 . T C 100 PASS DP=69;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-7651A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074560T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4582;CSQ_gnomADg_AN=27510;CSQ_gnomADg_AF=0.166558;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,15:69:0.21739:65:-100:0.2069:3,4,1,2,2,3,13,18,8,10,7,13:100:100 +2 223074560 . T C 100 PASS DP=69;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-7651A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074560T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4582;CSQ_gnomADg_AN=27510;CSQ_gnomADg_AF=0.166558;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,15:69:0.21739:65:-100:0.2069:3,4,1,2,2,3,13,18,8,10,7,13:100:100 +2 223074560 . T C 100 PASS DP=69;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-7651A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074560T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4582;CSQ_gnomADg_AN=27510;CSQ_gnomADg_AF=0.166558;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,15:69:0.21739:65:-100:0.2069:3,4,1,2,2,3,13,18,8,10,7,13:100:100 +2 223074560 . T C 100 PASS DP=69;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-8399A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074560T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4582;CSQ_gnomADg_AN=27510;CSQ_gnomADg_AF=0.166558;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,15:69:0.21739:65:-100:0.2069:3,4,1,2,2,3,13,18,8,10,7,13:100:100 +2 223074651 . A G 100 PASS DP=91;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-7742T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074651A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9784;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.317415;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=0.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,20:91:0.21978:65:-100:0.1875:4,4,2,3,2,5,18,32,5,17,9,10:100:100 +2 223074651 . A G 100 PASS DP=91;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-7742T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074651A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9784;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.317415;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=0.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,20:91:0.21978:65:-100:0.1875:4,4,2,3,2,5,18,32,5,17,9,10:100:100 +2 223074651 . A G 100 PASS DP=91;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-7742T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074651A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9784;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.317415;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=0.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,20:91:0.21978:65:-100:0.1875:4,4,2,3,2,5,18,32,5,17,9,10:100:100 +2 223074651 . A G 100 PASS DP=91;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-8490T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074651A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9784;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.317415;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=0.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,20:91:0.21978:65:-100:0.1875:4,4,2,3,2,5,18,32,5,17,9,10:100:100 +2 223074704 . C T 100 PASS DP=91;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-7795G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074704C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00041987;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.807 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,8:91:0.08791:65:-100:0.1875:2,2,0,1,1,2,19,33,4,17,3,15:100:100 +2 223074704 . C T 100 PASS DP=91;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-7795G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074704C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00041987;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.807 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,8:91:0.08791:65:-100:0.1875:2,2,0,1,1,2,19,33,4,17,3,15:100:100 +2 223074704 . C T 100 PASS DP=91;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-7795G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074704C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00041987;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.807 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,8:91:0.08791:65:-100:0.1875:2,2,0,1,1,2,19,33,4,17,3,15:100:100 +2 223074704 . C T 100 PASS DP=91;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-8543G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223074704C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00041987;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.807 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,8:91:0.08791:65:-100:0.1875:2,2,0,1,1,2,19,33,4,17,3,15:100:100 +2 223075071 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-8162G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223075071C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9827;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.317882;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=3.908 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,29:120:0.24167:65:-100:0.1241:3,9,5,3,2,7,17,42,12,25,8,16:100:100 +2 223075071 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-8162G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223075071C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9827;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.317882;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=3.908 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,29:120:0.24167:65:-100:0.1241:3,9,5,3,2,7,17,42,12,25,8,16:100:100 +2 223075071 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-8162G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223075071C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9827;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.317882;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=3.908 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,29:120:0.24167:65:-100:0.1241:3,9,5,3,2,7,17,42,12,25,8,16:100:100 +2 223075071 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-8910G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223075071C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9827;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.317882;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=3.908 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,29:120:0.24167:65:-100:0.1241:3,9,5,3,2,7,17,42,12,25,8,16:100:100 +2 223075268 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1171-8359G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223075268C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9825;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.31825;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=2.541 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,24:131:0.18321:65:-100:0.1149:1,6,2,4,2,9,27,37,8,20,16,23:100:100 +2 223075268 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1174-8359G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223075268C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9825;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.31825;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=2.541 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,24:131:0.18321:65:-100:0.1149:1,6,2,4,2,9,27,37,8,20,16,23:100:100 +2 223075268 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1174-8359G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223075268C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9825;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.31825;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=2.541 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,24:131:0.18321:65:-100:0.1149:1,6,2,4,2,9,27,37,8,20,16,23:100:100 +2 223075268 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1174-9107G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223075268C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9825;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.31825;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390inta&PAX3:Q391int&PAX3:Q391inta;CSQ_CADD_PHRED=2.541 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,24:131:0.18321:65:-100:0.1149:1,6,2,4,2,9,27,37,8,20,16,23:100:100 +2 223076939 . A T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+7920T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223076939A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4596;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.148786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,37:131:0.28244:65:-100:0.1267:5,11,5,5,2,9,15,42,18,25,9,22:100:100 +2 223076939 . A T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+7920T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223076939A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4596;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.148786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,37:131:0.28244:65:-100:0.1267:5,11,5,5,2,9,15,42,18,25,9,22:100:100 +2 223076939 . A T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+7920T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223076939A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4596;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.148786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,37:131:0.28244:65:-100:0.1267:5,11,5,5,2,9,15,42,18,25,9,22:100:100 +2 223076939 . A T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+7920T>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223076939A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4596;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.148786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,37:131:0.28244:65:-100:0.1267:5,11,5,5,2,9,15,42,18,25,9,22:100:100 +2 223077117 . A G 100 PASS DP=95;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+7742T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223077117A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.523 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,9:95:0.09474:65:-99.7552:0.1038:3,4,0,0,0,2,19,37,7,13,7,12:100:100 +2 223077117 . A G 100 PASS DP=95;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+7742T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223077117A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.523 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,9:95:0.09474:65:-99.7552:0.1038:3,4,0,0,0,2,19,37,7,13,7,12:100:100 +2 223077117 . A G 100 PASS DP=95;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+7742T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223077117A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.523 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,9:95:0.09474:65:-99.7552:0.1038:3,4,0,0,0,2,19,37,7,13,7,12:100:100 +2 223077117 . A G 100 PASS DP=95;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+7742T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223077117A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.523 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,9:95:0.09474:65:-99.7552:0.1038:3,4,0,0,0,2,19,37,7,13,7,12:100:100 +2 223077547 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+7312C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223077547G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=212;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.00685109;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,5:103:0.04854:65:-98.3625:0.1271:0,2,1,1,1,0,17,33,11,15,12,15:66.895:100 +2 223077547 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+7312C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223077547G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=212;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.00685109;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,5:103:0.04854:65:-98.3625:0.1271:0,2,1,1,1,0,17,33,11,15,12,15:66.895:100 +2 223077547 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+7312C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223077547G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=212;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.00685109;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,5:103:0.04854:65:-98.3625:0.1271:0,2,1,1,1,0,17,33,11,15,12,15:66.895:100 +2 223077547 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+7312C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223077547G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=212;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.00685109;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,5:103:0.04854:65:-98.3625:0.1271:0,2,1,1,1,0,17,33,11,15,12,15:66.895:100 +2 223078010 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+6849G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078010C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=38;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0012281;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.707 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.0992:3,3,2,0,0,1,20,30,13,16,12,18:100:100 +2 223078010 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+6849G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078010C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=38;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0012281;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.707 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.0992:3,3,2,0,0,1,20,30,13,16,12,18:100:100 +2 223078010 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+6849G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078010C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=38;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0012281;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.707 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.0992:3,3,2,0,0,1,20,30,13,16,12,18:100:100 +2 223078010 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+6849G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078010C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=38;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0012281;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.707 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.0992:3,3,2,0,0,1,20,30,13,16,12,18:100:100 +2 223078070 . C A 100 PASS DP=92;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+6789G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078070C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,9:92:0.09783:65:-100:0.2:0,2,0,4,0,3,9,26,5,23,7,22:100:100 +2 223078070 . C A 100 PASS DP=92;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+6789G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078070C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,9:92:0.09783:65:-100:0.2:0,2,0,4,0,3,9,26,5,23,7,22:100:100 +2 223078070 . C A 100 PASS DP=92;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+6789G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078070C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,9:92:0.09783:65:-100:0.2:0,2,0,4,0,3,9,26,5,23,7,22:100:100 +2 223078070 . C A 100 PASS DP=92;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+6789G>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078070C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,9:92:0.09783:65:-100:0.2:0,2,0,4,0,3,9,26,5,23,7,22:100:100 +2 223078305 . G T 100 PASS DP=115;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+6554C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078305G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,10:115:0.08696:65:-100:0.1481:3,2,1,4,0,0,18,33,3,33,8,20:100:100 +2 223078305 . G T 100 PASS DP=115;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+6554C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078305G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,10:115:0.08696:65:-100:0.1481:3,2,1,4,0,0,18,33,3,33,8,20:100:100 +2 223078305 . G T 100 PASS DP=115;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+6554C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078305G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,10:115:0.08696:65:-100:0.1481:3,2,1,4,0,0,18,33,3,33,8,20:100:100 +2 223078305 . G T 100 PASS DP=115;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+6554C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078305G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,10:115:0.08696:65:-100:0.1481:3,2,1,4,0,0,18,33,3,33,8,20:100:100 +2 223078592 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+6267C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4610;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.14921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.203 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,31:115:0.26957:65:-100:0.1016:6,11,2,4,4,4,20,43,5,20,13,14:100:100 +2 223078592 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+6267C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4610;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.14921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.203 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,31:115:0.26957:65:-100:0.1016:6,11,2,4,4,4,20,43,5,20,13,14:100:100 +2 223078592 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+6267C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4610;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.14921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.203 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,31:115:0.26957:65:-100:0.1016:6,11,2,4,4,4,20,43,5,20,13,14:100:100 +2 223078592 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+6267C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223078592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4610;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.14921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.203 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,31:115:0.26957:65:-100:0.1016:6,11,2,4,4,4,20,43,5,20,13,14:100:100 +2 223079344 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+5515C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079344G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3872;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.125275;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=12.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,7:117:0.05983:65:-98.0466:0.1333:2,2,1,0,0,2,18,38,12,16,16,17:61.61:100 +2 223079344 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+5515C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079344G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3872;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.125275;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=12.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,7:117:0.05983:65:-98.0466:0.1333:2,2,1,0,0,2,18,38,12,16,16,17:61.61:100 +2 223079344 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+5515C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079344G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3872;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.125275;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=12.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,7:117:0.05983:65:-98.0466:0.1333:2,2,1,0,0,2,18,38,12,16,16,17:61.61:100 +2 223079344 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+5515C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079344G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3872;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.125275;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=12.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,7:117:0.05983:65:-98.0466:0.1333:2,2,1,0,0,2,18,38,12,16,16,17:61.61:100 +2 223079420 . C G 100 PASS DP=102;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+5439G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079420C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=335;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0108407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,22:102:0.21569:65:-100:0.1639:8,1,1,4,5,3,20,33,7,17,13,12:100:100 +2 223079420 . C G 100 PASS DP=102;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+5439G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079420C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=335;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0108407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,22:102:0.21569:65:-100:0.1639:8,1,1,4,5,3,20,33,7,17,13,12:100:100 +2 223079420 . C G 100 PASS DP=102;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+5439G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079420C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=335;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0108407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,22:102:0.21569:65:-100:0.1639:8,1,1,4,5,3,20,33,7,17,13,12:100:100 +2 223079420 . C G 100 PASS DP=102;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+5439G>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079420C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=335;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0108407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,22:102:0.21569:65:-100:0.1639:8,1,1,4,5,3,20,33,7,17,13,12:100:100 +2 223079894 . GA G 100 PASS DP=97;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+4964del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079901del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,7:97:0.07216:65:-100:0:2,2,2,0,0,1,20,31,11,14,4,17:76.265:100 +2 223079894 . GA G 100 PASS DP=97;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+4964del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079901del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,7:97:0.07216:65:-100:0:2,2,2,0,0,1,20,31,11,14,4,17:76.265:100 +2 223079894 . GA G 100 PASS DP=97;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+4964del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079901del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,7:97:0.07216:65:-100:0:2,2,2,0,0,1,20,31,11,14,4,17:76.265:100 +2 223079894 . GA G 100 PASS DP=97;CSQ_Allele=-;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+4964del;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223079901del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,7:97:0.07216:65:-100:0:2,2,2,0,0,1,20,31,11,14,4,17:76.265:100 +2 223080192 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+4667C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223080192G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3672;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.118866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.388 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,15:128:0.11719:65:-100:0.1409:4,7,0,0,1,3,24,42,15,15,12,20:100:100 +2 223080192 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+4667C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223080192G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3672;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.118866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.388 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,15:128:0.11719:65:-100:0.1409:4,7,0,0,1,3,24,42,15,15,12,20:100:100 +2 223080192 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+4667C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223080192G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3672;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.118866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.388 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,15:128:0.11719:65:-100:0.1409:4,7,0,0,1,3,24,42,15,15,12,20:100:100 +2 223080192 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+4667C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223080192G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3672;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.118866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.388 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,15:128:0.11719:65:-100:0.1409:4,7,0,0,1,3,24,42,15,15,12,20:100:100 +2 223081784 . A C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+3075T>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223081784A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2105;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0680173;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.182 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,13:108:0.12037:65:-100:0.1:3,5,0,2,1,2,14,40,10,14,13,17:100:100 +2 223081784 . A C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+3075T>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223081784A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2105;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0680173;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.182 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,13:108:0.12037:65:-100:0.1:3,5,0,2,1,2,14,40,10,14,13,17:100:100 +2 223081784 . A C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+3075T>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223081784A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2105;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0680173;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.182 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,13:108:0.12037:65:-100:0.1:3,5,0,2,1,2,14,40,10,14,13,17:100:100 +2 223081784 . A C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+3075T>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223081784A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2105;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0680173;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.182 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,13:108:0.12037:65:-100:0.1:3,5,0,2,1,2,14,40,10,14,13,17:100:100 +2 223082331 . C T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+2528G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223082331C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7853;CSQ_gnomADg_AN=17540;CSQ_gnomADg_AF=0.447719;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.165 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,27:101:0.26733:65:-100:0.1441:4,10,1,6,2,4,18,42,5,16,5,15:100:100 +2 223082331 . C T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+2528G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223082331C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7853;CSQ_gnomADg_AN=17540;CSQ_gnomADg_AF=0.447719;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.165 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,27:101:0.26733:65:-100:0.1441:4,10,1,6,2,4,18,42,5,16,5,15:100:100 +2 223082331 . C T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+2528G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223082331C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7853;CSQ_gnomADg_AN=17540;CSQ_gnomADg_AF=0.447719;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.165 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,27:101:0.26733:65:-100:0.1441:4,10,1,6,2,4,18,42,5,16,5,15:100:100 +2 223082331 . C T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+2528G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223082331C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7853;CSQ_gnomADg_AN=17540;CSQ_gnomADg_AF=0.447719;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=0.165 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,27:101:0.26733:65:-100:0.1441:4,10,1,6,2,4,18,42,5,16,5,15:100:100 +2 223082526 . G C 100 PASS DP=93;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+2333C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223082526G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24934;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.806456;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,78:93:0.83871:65:-100:0.1913:15,22,11,14,8,8,18,27,11,16,9,12:100:100 +2 223082526 . G C 100 PASS DP=93;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+2333C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223082526G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24934;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.806456;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,78:93:0.83871:65:-100:0.1913:15,22,11,14,8,8,18,27,11,16,9,12:100:100 +2 223082526 . G C 100 PASS DP=93;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+2333C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223082526G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24934;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.806456;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,78:93:0.83871:65:-100:0.1913:15,22,11,14,8,8,18,27,11,16,9,12:100:100 +2 223082526 . G C 100 PASS DP=93;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+2333C>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223082526G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24934;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.806456;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,78:93:0.83871:65:-100:0.1913:15,22,11,14,8,8,18,27,11,16,9,12:100:100 +2 223083079 . T C 100 PASS DP=99;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+1780A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29827;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.963965;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.647 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,94:99:0.9495:65:-100:0.161:11,41,8,12,9,13,11,42,8,15,10,13:100:100 +2 223083079 . T C 100 PASS DP=99;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+1780A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29827;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.963965;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.647 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,94:99:0.9495:65:-100:0.161:11,41,8,12,9,13,11,42,8,15,10,13:100:100 +2 223083079 . T C 100 PASS DP=99;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+1780A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29827;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.963965;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.647 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,94:99:0.9495:65:-100:0.161:11,41,8,12,9,13,11,42,8,15,10,13:100:100 +2 223083079 . T C 100 PASS DP=99;CSQ_Allele=C;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+1780A>G;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29827;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.963965;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=1.647 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,94:99:0.9495:65:-100:0.161:11,41,8,12,9,13,11,42,8,15,10,13:100:100 +2 223083507 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+1352C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083507G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=348;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0112505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,11:101:0.10891:65:-100:0.114:2,4,1,1,0,3,17,37,11,14,8,14:100:100 +2 223083507 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+1352C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083507G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=348;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0112505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,11:101:0.10891:65:-100:0.114:2,4,1,1,0,3,17,37,11,14,8,14:100:100 +2 223083507 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+1352C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083507G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=348;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0112505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,11:101:0.10891:65:-100:0.114:2,4,1,1,0,3,17,37,11,14,8,14:100:100 +2 223083507 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+1352C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083507G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=348;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0112505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,11:101:0.10891:65:-100:0.114:2,4,1,1,0,3,17,37,11,14,8,14:100:100 +2 223083967 . G T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+892C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083967G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2097;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0678465;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,10:103:0.09709:65:-100:0.1121:2,2,1,2,0,3,23,30,8,22,5,15:100:100 +2 223083967 . G T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+892C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083967G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2097;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0678465;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,10:103:0.09709:65:-100:0.1121:2,2,1,2,0,3,23,30,8,22,5,15:100:100 +2 223083967 . G T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+892C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083967G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2097;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0678465;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,10:103:0.09709:65:-100:0.1121:2,2,1,2,0,3,23,30,8,22,5,15:100:100 +2 223083967 . G T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+892C>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223083967G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2097;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0678465;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,10:103:0.09709:65:-100:0.1121:2,2,1,2,0,3,23,30,8,22,5,15:100:100 +2 223084833 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.1170+26G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223084833C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1250844;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2114;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0682905;CSQ_gnomADe_AC=25953;CSQ_gnomADe_AN=242668;CSQ_gnomADe_AF=0.106949;CSQ_gnomADe_Hom=2360;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=18.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,13:120:0.10833:65:-100:0.2105:4,3,1,2,1,2,23,45,11,13,8,20:100:100 +2 223084833 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.1173+26G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223084833C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1250844;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2114;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0682905;CSQ_gnomADe_AC=25953;CSQ_gnomADe_AN=242668;CSQ_gnomADe_AF=0.106949;CSQ_gnomADe_Hom=2360;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=18.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,13:120:0.10833:65:-100:0.2105:4,3,1,2,1,2,23,45,11,13,8,20:100:100 +2 223084833 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.1173+26G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223084833C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1250844;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2114;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0682905;CSQ_gnomADe_AC=25953;CSQ_gnomADe_AN=242668;CSQ_gnomADe_AF=0.106949;CSQ_gnomADe_Hom=2360;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=18.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,13:120:0.10833:65:-100:0.2105:4,3,1,2,1,2,23,45,11,13,8,20:100:100 +2 223084833 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.1173+26G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223084833C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1250844;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2114;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0682905;CSQ_gnomADe_AC=25953;CSQ_gnomADe_AN=242668;CSQ_gnomADe_AF=0.106949;CSQ_gnomADe_Hom=2360;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:Q390int&PAX3:Q390intd&PAX3:Q391int&PAX3:Q391intd;CSQ_CADD_PHRED=18.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,13:120:0.10833:65:-100:0.2105:4,3,1,2,1,2,23,45,11,13,8,20:100:100 +2 223085296 . G A 100 PASS DP=100;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.956-223C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223085296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,7:100:0.07:65:-100:0.115:0,2,1,2,1,1,17,35,8,14,11,15:72.581:100 +2 223085296 . G A 100 PASS DP=100;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/7;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.959-223C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223085296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,7:100:0.07:65:-100:0.115:0,2,1,2,1,1,17,35,8,14,11,15:72.581:100 +2 223085296 . G A 100 PASS DP=100;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.959-223C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223085296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,7:100:0.07:65:-100:0.115:0,2,1,2,1,1,17,35,8,14,11,15:72.581:100 +2 223085296 . G A 100 PASS DP=100;CSQ_Allele=A;CSQ_SYMBOL=PAX3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/7;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.959-223C>T;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223085296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,7:100:0.07:65:-100:0.115:0,2,1,2,1,1,17,35,8,14,11,15:72.581:100 +2 223085955 . G T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/9;CSQ_INTRON=.;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.941C>A;CSQ_HGVSp=NP_001120838.1:p.Thr314Lys;CSQ_HGVSg=2:g.223085955G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=218940;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(7)&Likely_benign(1);CSQ_ClinVar_CLNDN=Congenital_diaphragmatic_hernia&Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=830;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0268174;CSQ_gnomADe_AC=6619;CSQ_gnomADe_AN=245938;CSQ_gnomADe_AF=0.0269133;CSQ_gnomADe_Hom=121;CSQ_COSMICcMuts=COSV100399889&COSV100399889&COSV100399889&COSV100399889&COSV100399889&COSV100399889;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.396;CSQ_Mastermind_MMID3=PAX3:T314K&PAX3:T315K;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,14:116:0.12069:65:-100:0.1343:0,3,1,5,1,4,12,40,11,24,7,22:100:100 +2 223085955 . G T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.944C>A;CSQ_HGVSp=NP_852122.1:p.Thr315Lys;CSQ_HGVSg=2:g.223085955G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=218940;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(7)&Likely_benign(1);CSQ_ClinVar_CLNDN=Congenital_diaphragmatic_hernia&Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=830;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0268174;CSQ_gnomADe_AC=6619;CSQ_gnomADe_AN=245938;CSQ_gnomADe_AF=0.0269133;CSQ_gnomADe_Hom=121;CSQ_COSMICcMuts=COSV100399889&COSV100399889&COSV100399889&COSV100399889&COSV100399889&COSV100399889;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.396;CSQ_Mastermind_MMID3=PAX3:T314K&PAX3:T315K;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,14:116:0.12069:65:-100:0.1343:0,3,1,5,1,4,12,40,11,24,7,22:100:100 +2 223085955 . G T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.944C>A;CSQ_HGVSp=NP_852124.1:p.Thr315Lys;CSQ_HGVSg=2:g.223085955G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=218940;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(7)&Likely_benign(1);CSQ_ClinVar_CLNDN=Congenital_diaphragmatic_hernia&Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=830;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0268174;CSQ_gnomADe_AC=6619;CSQ_gnomADe_AN=245938;CSQ_gnomADe_AF=0.0269133;CSQ_gnomADe_Hom=121;CSQ_COSMICcMuts=COSV100399889&COSV100399889&COSV100399889&COSV100399889&COSV100399889&COSV100399889;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.396;CSQ_Mastermind_MMID3=PAX3:T314K&PAX3:T315K;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,14:116:0.12069:65:-100:0.1343:0,3,1,5,1,4,12,40,11,24,7,22:100:100 +2 223085955 . G T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.944C>A;CSQ_HGVSp=NP_852126.1:p.Thr315Lys;CSQ_HGVSg=2:g.223085955G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=218940;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(7)&Likely_benign(1);CSQ_ClinVar_CLNDN=Congenital_diaphragmatic_hernia&Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=830;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0268174;CSQ_gnomADe_AC=6619;CSQ_gnomADe_AN=245938;CSQ_gnomADe_AF=0.0269133;CSQ_gnomADe_Hom=121;CSQ_COSMICcMuts=COSV100399889&COSV100399889&COSV100399889&COSV100399889&COSV100399889&COSV100399889;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.396;CSQ_Mastermind_MMID3=PAX3:T314K&PAX3:T315K;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,14:116:0.12069:65:-100:0.1343:0,3,1,5,1,4,12,40,11,24,7,22:100:100 +2 223161889 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_000438.6;CSQ_HGVSc=NM_000438.6:c.129T>C;CSQ_HGVSp=NP_000429.2:p.Gly43%3D;CSQ_HGVSg=2:g.223161889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=195432;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_3&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=26363;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.851408;CSQ_gnomADe_AC=192383;CSQ_gnomADe_AN=217550;CSQ_gnomADe_AF=0.884316;CSQ_gnomADe_Hom=85349;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:G43G;CSQ_CADD_PHRED=10.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,158:158:1:65:-100:0.1124:22,55,14,24,9,34,22,55,14,24,9,34:100:100 +2 223161889 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.129T>C;CSQ_HGVSp=NP_001120838.1:p.Gly43%3D;CSQ_HGVSg=2:g.223161889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=195432;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_3&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=26363;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.851408;CSQ_gnomADe_AC=192383;CSQ_gnomADe_AN=217550;CSQ_gnomADe_AF=0.884316;CSQ_gnomADe_Hom=85349;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:G43G;CSQ_CADD_PHRED=10.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,158:158:1:65:-100:0.1124:22,55,14,24,9,34,22,55,14,24,9,34:100:100 +2 223161889 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.129T>C;CSQ_HGVSp=NP_852122.1:p.Gly43%3D;CSQ_HGVSg=2:g.223161889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=195432;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_3&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=26363;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.851408;CSQ_gnomADe_AC=192383;CSQ_gnomADe_AN=217550;CSQ_gnomADe_AF=0.884316;CSQ_gnomADe_Hom=85349;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:G43G;CSQ_CADD_PHRED=10.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,158:158:1:65:-100:0.1124:22,55,14,24,9,34,22,55,14,24,9,34:100:100 +2 223161889 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.129T>C;CSQ_HGVSp=NP_852124.1:p.Gly43%3D;CSQ_HGVSg=2:g.223161889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=195432;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_3&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=26363;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.851408;CSQ_gnomADe_AC=192383;CSQ_gnomADe_AN=217550;CSQ_gnomADe_AF=0.884316;CSQ_gnomADe_Hom=85349;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:G43G;CSQ_CADD_PHRED=10.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,158:158:1:65:-100:0.1124:22,55,14,24,9,34,22,55,14,24,9,34:100:100 +2 223161889 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=PAX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.129T>C;CSQ_HGVSp=NP_852126.1:p.Gly43%3D;CSQ_HGVSg=2:g.223161889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=195432;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniofacial-deafness-hand_syndrome&Waardenburg_syndrome_type_3&Waardenburg_syndrome_type_1&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=26363;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.851408;CSQ_gnomADe_AC=192383;CSQ_gnomADe_AN=217550;CSQ_gnomADe_AF=0.884316;CSQ_gnomADe_Hom=85349;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX3:G43G;CSQ_CADD_PHRED=10.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,158:158:1:65:-100:0.1124:22,55,14,24,9,34,22,55,14,24,9,34:100:100 +2 223163695 . C T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/4;CSQ_INTRON=.;CSQ_Feature=NM_000438.6;CSQ_HGVSc=NM_000438.6:c.-361G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223163695C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,14:103:0.13592:65:-100:0.1271:4,3,1,2,1,3,12,34,11,17,8,21:100:100 +2 223163695 . C T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001127366.3;CSQ_HGVSc=NM_001127366.3:c.-361G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223163695C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,14:103:0.13592:65:-100:0.1271:4,3,1,2,1,3,12,34,11,17,8,21:100:100 +2 223163695 . C T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_181457.4;CSQ_HGVSc=NM_181457.4:c.-361G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223163695C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,14:103:0.13592:65:-100:0.1271:4,3,1,2,1,3,12,34,11,17,8,21:100:100 +2 223163695 . C T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/10;CSQ_INTRON=.;CSQ_Feature=NM_181459.4;CSQ_HGVSc=NM_181459.4:c.-361G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223163695C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,14:103:0.13592:65:-100:0.1271:4,3,1,2,1,3,12,34,11,17,8,21:100:100 +2 223163695 . C T 100 PASS DP=103;CSQ_Allele=T;CSQ_SYMBOL=PAX3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_181461.4;CSQ_HGVSc=NM_181461.4:c.-361G>A;CSQ_HGVSp=.;CSQ_HGVSg=2:g.223163695C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,14:103:0.13592:65:-100:0.1271:4,3,1,2,1,3,12,34,11,17,8,21:100:100 +2 225346646 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=CUL3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/15;CSQ_INTRON=.;CSQ_Feature=NM_001257197.2;CSQ_HGVSc=NM_001257197.2:c.1794A>G;CSQ_HGVSp=NP_001244126.1:p.Gln598%3D;CSQ_HGVSg=2:g.225346646T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259092;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_dominant_pseudohypoaldosteronism_type_1&Pseudohypoaldosteronism_type_2E¬_specified¬_provided;CSQ_gnomADg_AC=5676;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.183689;CSQ_gnomADe_AC=42805;CSQ_gnomADe_AN=232492;CSQ_gnomADe_AF=0.184114;CSQ_gnomADe_Hom=4581;CSQ_COSMICcMuts=COSV52361484&COSV52361484&COSV52361484&COSV52361484;CSQ_COSMICncMuts=COSV52361484;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUL3:Q598Q&CUL3:Q664Q&CUL3:Q670Q;CSQ_CADD_PHRED=9.394 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,19:114:0.16667:65:-100:0.088:1,10,1,2,2,3,19,45,8,18,12,12:100:100 +2 225346646 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=CUL3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/16;CSQ_INTRON=.;CSQ_Feature=NM_001257198.2;CSQ_HGVSc=NM_001257198.2:c.2010A>G;CSQ_HGVSp=NP_001244127.1:p.Gln670%3D;CSQ_HGVSg=2:g.225346646T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259092;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_dominant_pseudohypoaldosteronism_type_1&Pseudohypoaldosteronism_type_2E¬_specified¬_provided;CSQ_gnomADg_AC=5676;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.183689;CSQ_gnomADe_AC=42805;CSQ_gnomADe_AN=232492;CSQ_gnomADe_AF=0.184114;CSQ_gnomADe_Hom=4581;CSQ_COSMICcMuts=COSV52361484&COSV52361484&COSV52361484&COSV52361484;CSQ_COSMICncMuts=COSV52361484;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUL3:Q598Q&CUL3:Q664Q&CUL3:Q670Q;CSQ_CADD_PHRED=9.394 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,19:114:0.16667:65:-100:0.088:1,10,1,2,2,3,19,45,8,18,12,12:100:100 +2 225434445 . A G 100 PASS DP=97;CSQ_Allele=G;CSQ_SYMBOL=CUL3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_001257197.2;CSQ_HGVSc=NM_001257197.2:c.66+15216T>C;CSQ_HGVSp=.;CSQ_HGVSg=2:g.225434445A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=504910;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=8690;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.282143;CSQ_gnomADe_AC=22812;CSQ_gnomADe_AN=82932;CSQ_gnomADe_AF=0.275069;CSQ_gnomADe_Hom=3352;CSQ_COSMICcMuts=COSV52361378&COSV52361378&COSV52361378;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUL3:H15H&CUL3:P22int&CUL3:P22inta&CUL3:P22intd;CSQ_CADD_PHRED=4.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,17:97:0.17526:65:-100:0.0935:4,8,1,1,1,2,19,31,9,12,11,15:100:100 +2 225434445 . A G 100 PASS DP=97;CSQ_Allele=G;CSQ_SYMBOL=CUL3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/16;CSQ_INTRON=.;CSQ_Feature=NM_001257198.2;CSQ_HGVSc=NM_001257198.2:c.45T>C;CSQ_HGVSp=NP_001244127.1:p.His15%3D;CSQ_HGVSg=2:g.225434445A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=504910;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=8690;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.282143;CSQ_gnomADe_AC=22812;CSQ_gnomADe_AN=82932;CSQ_gnomADe_AF=0.275069;CSQ_gnomADe_Hom=3352;CSQ_COSMICcMuts=COSV52361378&COSV52361378&COSV52361378;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUL3:H15H&CUL3:P22int&CUL3:P22inta&CUL3:P22intd;CSQ_CADD_PHRED=4.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,17:97:0.17526:65:-100:0.0935:4,8,1,1,1,2,19,31,9,12,11,15:100:100 +2 227660544 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=IRS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.2911G>A;CSQ_HGVSp=NP_005535.1:p.Gly971Arg;CSQ_HGVSg=2:g.227660544C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=29761;CSQ_ClinVar_CLNSIG=risk_factor;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Coronary_artery_disease&_susceptibility_to&Insulin_resistance&_susceptibility_to;CSQ_gnomADg_AC=1852;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0598965;CSQ_gnomADe_AC=12780;CSQ_gnomADe_AN=245242;CSQ_gnomADe_AF=0.0521118;CSQ_gnomADe_Hom=379;CSQ_COSMICcMuts=COSV59335677;CSQ_COSMICncMuts=COSV59335677&COSV59335677;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.186;CSQ_Mastermind_MMID3=IRS1:G971R;CSQ_CADD_PHRED=21.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,7:130:0.05385:65:-100:0.1558:1,0,3,1,0,2,20,41,16,24,10,19:87.478:100 +2 227661003 . C G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=IRS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.2452G>C;CSQ_HGVSp=NP_005535.1:p.Gly818Arg;CSQ_HGVSg=2:g.227661003C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402985;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Type_2_diabetes_mellitus¬_specified¬_provided;CSQ_gnomADg_AC=287;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.00927422;CSQ_gnomADe_AC=2063;CSQ_gnomADe_AN=245714;CSQ_gnomADe_AF=0.00839594;CSQ_gnomADe_Hom=17;CSQ_COSMICcMuts=COSV99043455;CSQ_COSMICncMuts=COSV99043455&COSV99043455;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.235;CSQ_Mastermind_MMID3=IRS1:G818R;CSQ_CADD_PHRED=26.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,10:149:0.06711:65:-100:0.1486:2,5,0,1,1,1,19,51,15,24,12,28:100:100 +2 227661043 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=IRS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.2412A>G;CSQ_HGVSp=NP_005535.1:p.Ala804%3D;CSQ_HGVSg=2:g.227661043T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5964;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.19296;CSQ_gnomADe_AC=43479;CSQ_gnomADe_AN=245718;CSQ_gnomADe_AF=0.176947;CSQ_gnomADe_Hom=5593;CSQ_COSMICcMuts=COSV59337490;CSQ_COSMICncMuts=COSV59337490&COSV59337490;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IRS1:A804A;CSQ_CADD_PHRED=0.489 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,33:144:0.22917:65:-100:0.1724:7,7,2,6,3,8,22,48,11,29,12,22:100:100 +2 227661451 . G A 100 PASS DP=180;CSQ_Allele=A;CSQ_SYMBOL=IRS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.2004C>T;CSQ_HGVSp=NP_005535.1:p.Ser668%3D;CSQ_HGVSg=2:g.227661451G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=773862;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=147;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.00475482;CSQ_gnomADe_AC=349;CSQ_gnomADe_AN=243852;CSQ_gnomADe_AF=0.0014312;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IRS1:S668S;CSQ_CADD_PHRED=1.228 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,23:180:0.12778:65:-100:0.1429:3,5,5,6,2,2,24,56,20,27,16,37:100:100 +2 227661921 . C G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=IRS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.1534G>C;CSQ_HGVSp=NP_005535.1:p.Ala512Pro;CSQ_HGVSg=2:g.227661921C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=522186;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Type_2_diabetes_mellitus¬_specified;CSQ_gnomADg_AC=536;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0173317;CSQ_gnomADe_AC=3435;CSQ_gnomADe_AN=246022;CSQ_gnomADe_AF=0.0139622;CSQ_gnomADe_Hom=38;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=0.076;CSQ_Mastermind_MMID3=IRS1:A512P;CSQ_CADD_PHRED=10.91 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,15:127:0.11811:65:-100:0.1533:1,4,4,2,2,2,16,45,18,20,10,18:100:100 +2 227662753 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=IRS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.702G>A;CSQ_HGVSp=NP_005535.1:p.Gly234%3D;CSQ_HGVSg=2:g.227662753C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1837;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.0594806;CSQ_gnomADe_AC=12800;CSQ_gnomADe_AN=246236;CSQ_gnomADe_AF=0.0519827;CSQ_gnomADe_Hom=378;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IRS1:G234G;CSQ_CADD_PHRED=12.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,11:142:0.07746:65:-100:0.1932:1,5,2,2,1,0,23,56,13,23,8,19:100:100 +2 227662779 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=IRS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.676G>A;CSQ_HGVSp=NP_005535.1:p.Gly226Ser;CSQ_HGVSg=2:g.227662779C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59339212;CSQ_COSMICncMuts=COSV59339212&COSV59339212;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=0.889;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=29.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,10:147:0.06803:65:-100:0.16:1,3,1,4,0,1,19,51,12,32,6,27:100:100 +2 227662937 . A G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=IRS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.518T>C;CSQ_HGVSp=NP_005535.1:p.Leu173Pro;CSQ_HGVSg=2:g.227662937A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59334035;CSQ_COSMICncMuts=COSV59334035&COSV59334035;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=0.861;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,20:136:0.14706:65:-100:0.1053:1,8,3,3,0,5,14,45,19,23,14,21:100:100 +2 227663185 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=IRS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_005544.3;CSQ_HGVSc=NM_005544.3:c.270C>T;CSQ_HGVSp=NP_005535.1:p.Asp90%3D;CSQ_HGVSg=2:g.227663185G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1781;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0575891;CSQ_gnomADe_AC=9255;CSQ_gnomADe_AN=246008;CSQ_gnomADe_AF=0.0376207;CSQ_gnomADe_Hom=468;CSQ_COSMICcMuts=COSV100524066;CSQ_COSMICncMuts=COSV100524066&COSV100524066;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IRS1:D90D;CSQ_CADD_PHRED=12.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,15:132:0.11364:65:-100:0.1373:0,6,3,4,0,2,25,48,13,18,10,18:100:100 +2 242793273 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=PDCD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_005018.3;CSQ_HGVSc=NM_005018.3:c.804T>C;CSQ_HGVSp=NP_005009.2:p.Ala268%3D;CSQ_HGVSg=2:g.242793273A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1226460;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=18637;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.604705;CSQ_gnomADe_AC=154619;CSQ_gnomADe_AN=244434;CSQ_gnomADe_AF=0.632559;CSQ_gnomADe_Hom=49522;CSQ_COSMICcMuts=COSV57691079;CSQ_COSMICncMuts=COSV57691079;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDCD1:A268A;CSQ_CADD_PHRED=0.133 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,109:143:0.76224:65:-100:0.1333:23,35,4,22,14,11,25,47,7,31,17,16:100:100 +2 242793433 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PDCD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_005018.3;CSQ_HGVSc=NM_005018.3:c.644C>T;CSQ_HGVSp=NP_005009.2:p.Ala215Val;CSQ_HGVSg=2:g.242793433G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1282693;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1521;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.0492392;CSQ_gnomADe_AC=22273;CSQ_gnomADe_AN=244148;CSQ_gnomADe_AF=0.0912275;CSQ_gnomADe_Hom=3634;CSQ_COSMICcMuts=COSV57690833;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.163;CSQ_Mastermind_MMID3=PDCD1:A215V;CSQ_CADD_PHRED=16.13 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,25:115:0.21739:65:-100:0.1786:3,10,4,1,1,6,20,38,6,20,7,24:100:100 +3 10108991 . G A 100 PASS DP=100;CSQ_Allele=A;CSQ_SYMBOL=FANCD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=26/44;CSQ_INTRON=.;CSQ_Feature=NM_001018115.3;CSQ_HGVSc=NM_001018115.3:c.2484G>A;CSQ_HGVSp=NP_001018125.1:p.Lys828%3D;CSQ_HGVSg=3:g.10108991G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=414647;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D2&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=225;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.00726322;CSQ_gnomADe_AC=458;CSQ_gnomADe_AN=244712;CSQ_gnomADe_AF=0.00187159;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=COSV104599316&COSV104599316&COSV104599316&COSV104599316;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCD2:K791K&FANCD2:K828K;CSQ_CADD_PHRED=9.869 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,12:100:0.12:65:-100:0.1525:4,4,1,1,1,1,16,36,9,16,7,16:100:100 +3 10108991 . G A 100 PASS DP=100;CSQ_Allele=A;CSQ_SYMBOL=FANCD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=26/43;CSQ_INTRON=.;CSQ_Feature=NM_033084.6;CSQ_HGVSc=NM_033084.6:c.2484G>A;CSQ_HGVSp=NP_149075.2:p.Lys828%3D;CSQ_HGVSg=3:g.10108991G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=414647;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D2&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=225;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.00726322;CSQ_gnomADe_AC=458;CSQ_gnomADe_AN=244712;CSQ_gnomADe_AF=0.00187159;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=COSV104599316&COSV104599316&COSV104599316&COSV104599316;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCD2:K791K&FANCD2:K828K;CSQ_CADD_PHRED=9.869 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,12:100:0.12:65:-100:0.1525:4,4,1,1,1,1,16,36,9,16,7,16:100:100 +3 10138019 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=FANCD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=42/44;CSQ_INTRON=.;CSQ_Feature=NM_001018115.3;CSQ_HGVSc=NM_001018115.3:c.4048G>A;CSQ_HGVSp=NP_001018125.1:p.Asp1350Asn;CSQ_HGVSg=3:g.10138019G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1394149;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246192;CSQ_gnomADe_AF=8.12374e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55044970&COSV55044970&COSV55044970&COSV55044970&COSV55044970;CSQ_COSMICncMuts=COSV55044970;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.447;CSQ_Mastermind_MMID3=FANCD2:D1350N;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,9:129:0.06977:65:-99.3855:0.1783:2,4,0,1,1,1,21,49,11,18,15,15:100:100 +3 10138019 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=FANCD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=42/43;CSQ_INTRON=.;CSQ_Feature=NM_033084.6;CSQ_HGVSc=NM_033084.6:c.4048G>A;CSQ_HGVSp=NP_149075.2:p.Asp1350Asn;CSQ_HGVSg=3:g.10138019G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1394149;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246192;CSQ_gnomADe_AF=8.12374e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55044970&COSV55044970&COSV55044970&COSV55044970&COSV55044970;CSQ_COSMICncMuts=COSV55044970;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.447;CSQ_Mastermind_MMID3=FANCD2:D1350N;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,9:129:0.06977:65:-99.3855:0.1783:2,4,0,1,1,1,21,49,11,18,15,15:100:100 +3 10138069 . T G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=FANCD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=42/44;CSQ_INTRON=.;CSQ_Feature=NM_001018115.3;CSQ_HGVSc=NM_001018115.3:c.4098T>G;CSQ_HGVSp=NP_001018125.1:p.Leu1366%3D;CSQ_HGVSg=3:g.10138069T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257081;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D2&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=7434;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.240411;CSQ_gnomADe_AC=44403;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=0.180369;CSQ_gnomADe_Hom=4914;CSQ_COSMICcMuts=COSV55037985&COSV55037985&COSV55037985&COSV55037985&COSV55037985;CSQ_COSMICncMuts=COSV55037985;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCD2:L1329L&FANCD2:L1353L&FANCD2:L1366L&FANCD2OS:3UTR&FANCD2OS:3UTRint&FANCD2OS:3UTRintd;CSQ_CADD_PHRED=10.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,8:145:0.05517:65:-100:0.1265:1,4,0,2,0,1,34,46,9,19,10,27:100:100 +3 10138069 . T G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=FANCD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=42/43;CSQ_INTRON=.;CSQ_Feature=NM_033084.6;CSQ_HGVSc=NM_033084.6:c.4098T>G;CSQ_HGVSp=NP_149075.2:p.Leu1366%3D;CSQ_HGVSg=3:g.10138069T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257081;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D2&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=7434;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.240411;CSQ_gnomADe_AC=44403;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=0.180369;CSQ_gnomADe_Hom=4914;CSQ_COSMICcMuts=COSV55037985&COSV55037985&COSV55037985&COSV55037985&COSV55037985;CSQ_COSMICncMuts=COSV55037985;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCD2:L1329L&FANCD2:L1353L&FANCD2:L1366L&FANCD2OS:3UTR&FANCD2OS:3UTRint&FANCD2OS:3UTRintd;CSQ_CADD_PHRED=10.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,8:145:0.05517:65:-100:0.1265:1,4,0,2,0,1,34,46,9,19,10,27:100:100 +3 10188273 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=VHL;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_000551.4;CSQ_HGVSc=NM_000551.4:c.416C>T;CSQ_HGVSp=NP_000542.1:p.Ser139Phe;CSQ_HGVSg=3:g.10188273C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=216478;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Von_Hippel-Lindau_syndrome&Chuvash_polycythemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.877;CSQ_Mastermind_MMID3=VHL:S139F;CSQ_CADD_PHRED=27.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,6:149:0.04027:65:-94.1207:0.1486:0,2,0,1,0,3,26,57,7,27,12,20:69.982:100 +3 10188273 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=VHL;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_198156.3;CSQ_HGVSc=NM_198156.3:c.341-3198C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.10188273C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=216478;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Von_Hippel-Lindau_syndrome&Chuvash_polycythemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=27.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,6:149:0.04027:65:-94.1207:0.1486:0,2,0,1,0,3,26,57,7,27,12,20:69.982:100 +3 12393594 . T G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-27609T>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12393594T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.853 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,18:113:0.15929:65:-100:0.1308:5,9,1,1,1,1,23,41,9,10,14,16:100:100 +3 12393594 . T G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+421T>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12393594T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.853 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,18:113:0.15929:65:-100:0.1308:5,9,1,1,1,1,23,41,9,10,14,16:100:100 +3 12393594 . T G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-27609T>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12393594T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.853 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,18:113:0.15929:65:-100:0.1308:5,9,1,1,1,1,23,41,9,10,14,16:100:100 +3 12393682 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-27521A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12393682A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4484;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.14501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.216 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,12:113:0.10619:65:-100:0.1172:5,2,2,0,2,1,34,30,13,10,10,16:100:100 +3 12393682 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+509A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12393682A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4484;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.14501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.216 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,12:113:0.10619:65:-100:0.1172:5,2,2,0,2,1,34,30,13,10,10,16:100:100 +3 12393682 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-27521A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12393682A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4484;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.14501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.216 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,12:113:0.10619:65:-100:0.1172:5,2,2,0,2,1,34,30,13,10,10,16:100:100 +3 12394601 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-26602G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12394601G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3632;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.117442;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=16.77 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,19:130:0.14615:65:-100:0.1333:3,10,0,3,1,2,19,39,9,28,14,21:100:100 +3 12394601 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+1428G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12394601G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3632;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.117442;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=16.77 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,19:130:0.14615:65:-100:0.1333:3,10,0,3,1,2,19,39,9,28,14,21:100:100 +3 12394601 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-26602G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12394601G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3632;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.117442;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=16.77 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,19:130:0.14615:65:-100:0.1333:3,10,0,3,1,2,19,39,9,28,14,21:100:100 +3 12394840 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-26363C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12394840C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8109;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.262139;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.15;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.468 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,41:122:0.33607:65:-100:0.1644:10,10,6,8,0,7,18,47,15,19,7,16:100:100 +3 12394840 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+1667C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12394840C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8109;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.262139;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.15;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.468 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,41:122:0.33607:65:-100:0.1644:10,10,6,8,0,7,18,47,15,19,7,16:100:100 +3 12394840 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-26363C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12394840C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8109;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.262139;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.15;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.468 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,41:122:0.33607:65:-100:0.1644:10,10,6,8,0,7,18,47,15,19,7,16:100:100 +3 12395645 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-25558G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12395645G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8103;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.262131;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,41:133:0.30827:65:-100:0.1074:7,13,2,4,5,10,22,44,9,22,9,27:100:100 +3 12395645 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+2472G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12395645G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8103;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.262131;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,41:133:0.30827:65:-100:0.1074:7,13,2,4,5,10,22,44,9,22,9,27:100:100 +3 12395645 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-25558G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12395645G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8103;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.262131;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,41:133:0.30827:65:-100:0.1074:7,13,2,4,5,10,22,44,9,22,9,27:100:100 +3 12395972 . CA C 100 PASS DP=78;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-25230del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12395973del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7096;CSQ_gnomADg_AN=30630;CSQ_gnomADg_AF=0.231668;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.613 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,22:78:0.28205:65:-100:0:2,8,3,3,2,4,11,24,15,11,8,9:100:100 +3 12395972 . CA C 100 PASS DP=78;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+2800del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12395973del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7096;CSQ_gnomADg_AN=30630;CSQ_gnomADg_AF=0.231668;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.613 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,22:78:0.28205:65:-100:0:2,8,3,3,2,4,11,24,15,11,8,9:100:100 +3 12395972 . CA C 100 PASS DP=78;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-25230del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12395973del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7096;CSQ_gnomADg_AN=30630;CSQ_gnomADg_AF=0.231668;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.613 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,22:78:0.28205:65:-100:0:2,8,3,3,2,4,11,24,15,11,8,9:100:100 +3 12396444 . T G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-24759T>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396444T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=942;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0304736;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.371 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,19:94:0.20213:65:-100:0.1754:2,9,2,1,0,5,15,33,11,16,8,11:100:100 +3 12396444 . T G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+3271T>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396444T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=942;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0304736;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.371 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,19:94:0.20213:65:-100:0.1754:2,9,2,1,0,5,15,33,11,16,8,11:100:100 +3 12396444 . T G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-24759T>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396444T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=942;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0304736;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.371 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,19:94:0.20213:65:-100:0.1754:2,9,2,1,0,5,15,33,11,16,8,11:100:100 +3 12396560 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-24643T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396560T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.385 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,8:131:0.06107:65:-100:0.0903:1,4,0,1,0,2,21,49,8,25,12,16:93.157:100 +3 12396560 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+3387T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396560T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.385 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,8:131:0.06107:65:-100:0.0903:1,4,0,1,0,2,21,49,8,25,12,16:93.157:100 +3 12396560 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-24643T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396560T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.385 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,8:131:0.06107:65:-100:0.0903:1,4,0,1,0,2,21,49,8,25,12,16:93.157:100 +3 12396588 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-24615G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396588G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19558;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.633806;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.397 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,91:128:0.71094:65:-100:0.1233:11,30,4,26,6,14,18,40,8,32,12,18:100:100 +3 12396588 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+3415G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396588G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19558;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.633806;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.397 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,91:128:0.71094:65:-100:0.1233:11,30,4,26,6,14,18,40,8,32,12,18:100:100 +3 12396588 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-24615G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396588G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19558;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.633806;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.397 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,91:128:0.71094:65:-100:0.1233:11,30,4,26,6,14,18,40,8,32,12,18:100:100 +3 12396779 . C T 100 PASS DP=107;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-24424C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396779C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4054;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.131197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.847 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,22:107:0.20561:65:-100:0.1371:3,3,0,8,1,7,15,20,8,35,11,18:100:100 +3 12396779 . C T 100 PASS DP=107;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+3606C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396779C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4054;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.131197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.847 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,22:107:0.20561:65:-100:0.1371:3,3,0,8,1,7,15,20,8,35,11,18:100:100 +3 12396779 . C T 100 PASS DP=107;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-24424C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396779C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4054;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.131197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.847 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,22:107:0.20561:65:-100:0.1371:3,3,0,8,1,7,15,20,8,35,11,18:100:100 +3 12396955 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-24248G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396955G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8120;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.262783;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=2.946 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,37:135:0.27407:65:-100:0.106:9,11,5,4,2,6,28,43,15,20,11,18:100:100 +3 12396955 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+3782G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396955G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8120;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.262783;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=2.946 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,37:135:0.27407:65:-100:0.106:9,11,5,4,2,6,28,43,15,20,11,18:100:100 +3 12396955 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-24248G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12396955G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8120;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.262783;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=2.946 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,37:135:0.27407:65:-100:0.106:9,11,5,4,2,6,28,43,15,20,11,18:100:100 +3 12397392 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-23811A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397392A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7291;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.235817;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=7.825 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,30:142:0.21127:65:-100:0.1069:7,13,0,4,2,4,27,51,6,15,15,28:100:100 +3 12397392 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+4219A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397392A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7291;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.235817;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=7.825 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,30:142:0.21127:65:-100:0.1069:7,13,0,4,2,4,27,51,6,15,15,28:100:100 +3 12397392 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-23811A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397392A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7291;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.235817;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=7.825 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,30:142:0.21127:65:-100:0.1069:7,13,0,4,2,4,27,51,6,15,15,28:100:100 +3 12397838 . T A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-23365T>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397838T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=943;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0304528;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,20:122:0.16393:65:-100:0.1286:0,7,1,5,2,5,15,44,9,21,11,22:100:100 +3 12397838 . T A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+4665T>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397838T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=943;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0304528;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,20:122:0.16393:65:-100:0.1286:0,7,1,5,2,5,15,44,9,21,11,22:100:100 +3 12397838 . T A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-23365T>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397838T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=943;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0304528;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,20:122:0.16393:65:-100:0.1286:0,7,1,5,2,5,15,44,9,21,11,22:100:100 +3 12397876 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-23327C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397876C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=558;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0180221;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,16:111:0.14414:65:-100:0.1527:3,5,2,4,0,2,8,44,7,27,4,21:100:100 +3 12397876 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+4703C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397876C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=558;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0180221;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,16:111:0.14414:65:-100:0.1527:3,5,2,4,0,2,8,44,7,27,4,21:100:100 +3 12397876 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-23327C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12397876C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=558;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0180221;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,16:111:0.14414:65:-100:0.1527:3,5,2,4,0,2,8,44,7,27,4,21:100:100 +3 12398407 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-22796C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12398407C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1373;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0443561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.303 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,18:152:0.11842:65:-100:0.1214:5,5,2,2,1,3,23,45,12,23,24,25:100:100 +3 12398407 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+5234C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12398407C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1373;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0443561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.303 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,18:152:0.11842:65:-100:0.1214:5,5,2,2,1,3,23,45,12,23,24,25:100:100 +3 12398407 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-22796C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12398407C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1373;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0443561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.303 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,18:152:0.11842:65:-100:0.1214:5,5,2,2,1,3,23,45,12,23,24,25:100:100 +3 12398636 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-22567C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12398636C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3212;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.103962;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=8.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,30:137:0.21898:65:-100:0.1543:6,12,2,5,1,4,24,42,12,29,9,21:100:100 +3 12398636 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+5463C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12398636C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3212;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.103962;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=8.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,30:137:0.21898:65:-100:0.1543:6,12,2,5,1,4,24,42,12,29,9,21:100:100 +3 12398636 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-22567C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12398636C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3212;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.103962;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=8.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,30:137:0.21898:65:-100:0.1543:6,12,2,5,1,4,24,42,12,29,9,21:100:100 +3 12399270 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-21933C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399270C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5018;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.162227;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=3.213 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,58:161:0.36025:65:-100:0.1481:12,19,5,13,7,2,26,48,11,31,18,27:100:100 +3 12399270 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+6097C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399270C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5018;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.162227;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=3.213 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,58:161:0.36025:65:-100:0.1481:12,19,5,13,7,2,26,48,11,31,18,27:100:100 +3 12399270 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-21933C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399270C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5018;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.162227;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=3.213 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,58:161:0.36025:65:-100:0.1481:12,19,5,13,7,2,26,48,11,31,18,27:100:100 +3 12399407 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-21796C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399407C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2699;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.087239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.695 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1382:2,6,2,1,0,2,11,45,12,23,11,29:100:100 +3 12399407 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+6234C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399407C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2699;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.087239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.695 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1382:2,6,2,1,0,2,11,45,12,23,11,29:100:100 +3 12399407 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-21796C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399407C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2699;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.087239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=1.695 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1382:2,6,2,1,0,2,11,45,12,23,11,29:100:100 +3 12399542 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-21661A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399542A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3671;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.118733;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,22:112:0.19643:65:-100:0.125:6,6,2,5,2,1,19,35,10,24,11,13:100:100 +3 12399542 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+6369A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399542A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3671;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.118733;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,22:112:0.19643:65:-100:0.125:6,6,2,5,2,1,19,35,10,24,11,13:100:100 +3 12399542 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-21661A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12399542A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3671;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.118733;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,22:112:0.19643:65:-100:0.125:6,6,2,5,2,1,19,35,10,24,11,13:100:100 +3 12400762 . AT A 100 PASS DP=113;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-20438del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12400765del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,20:113:0.17699:65:-100:0:2,9,4,3,1,1,19,38,14,19,7,16:100:100 +3 12400762 . AT A 100 PASS DP=113;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+7592del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12400765del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,20:113:0.17699:65:-100:0:2,9,4,3,1,1,19,38,14,19,7,16:100:100 +3 12400762 . AT A 100 PASS DP=113;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-20438del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12400765del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,20:113:0.17699:65:-100:0:2,9,4,3,1,1,19,38,14,19,7,16:100:100 +3 12400963 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-20240A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12400963A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3614;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.117072;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=11.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,20:120:0.16667:65:-100:0.1667:1,11,0,6,0,2,21,53,7,18,11,10:100:100 +3 12400963 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+7790A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12400963A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3614;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.117072;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=11.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,20:120:0.16667:65:-100:0.1667:1,11,0,6,0,2,21,53,7,18,11,10:100:100 +3 12400963 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-20240A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12400963A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3614;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.117072;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=11.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,20:120:0.16667:65:-100:0.1667:1,11,0,6,0,2,21,53,7,18,11,10:100:100 +3 12401684 . AT A 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-19513del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12401690del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,34:157:0.21656:65:-100:0:5,9,7,7,1,5,25,58,16,27,12,19:100:100 +3 12401684 . AT A 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+8517del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12401690del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,34:157:0.21656:65:-100:0:5,9,7,7,1,5,25,58,16,27,12,19:100:100 +3 12401684 . AT A 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-19513del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12401690del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,34:157:0.21656:65:-100:0:5,9,7,7,1,5,25,58,16,27,12,19:100:100 +3 12401960 . C G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-19243C>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12401960C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=169;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.00547457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,15:135:0.11111:65:-100:0.129:0,7,0,5,0,3,21,54,12,18,7,23:100:100 +3 12401960 . C G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+8787C>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12401960C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=169;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.00547457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,15:135:0.11111:65:-100:0.129:0,7,0,5,0,3,21,54,12,18,7,23:100:100 +3 12401960 . C G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-19243C>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12401960C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=169;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.00547457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,15:135:0.11111:65:-100:0.129:0,7,0,5,0,3,21,54,12,18,7,23:100:100 +3 12402007 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-19196A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402007A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3297;CSQ_gnomADg_AN=30474;CSQ_gnomADg_AF=0.108191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.131 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,18:121:0.14876:65:-100:0.1712:2,11,1,3,0,1,24,36,13,20,6,22:100:100 +3 12402007 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+8834A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402007A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3297;CSQ_gnomADg_AN=30474;CSQ_gnomADg_AF=0.108191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.131 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,18:121:0.14876:65:-100:0.1712:2,11,1,3,0,1,24,36,13,20,6,22:100:100 +3 12402007 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-19196A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402007A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3297;CSQ_gnomADg_AN=30474;CSQ_gnomADg_AF=0.108191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.131 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,18:121:0.14876:65:-100:0.1712:2,11,1,3,0,1,24,36,13,20,6,22:100:100 +3 12402474 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-18729C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402474C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22421;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.72574;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=7.225 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,102:127:0.80315:65:-100:0.1477:10,35,10,17,12,18,11,46,13,23,13,21:100:100 +3 12402474 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+9301C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402474C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22421;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.72574;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=7.225 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,102:127:0.80315:65:-100:0.1477:10,35,10,17,12,18,11,46,13,23,13,21:100:100 +3 12402474 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-18729C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402474C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22421;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.72574;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=7.225 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,102:127:0.80315:65:-100:0.1477:10,35,10,17,12,18,11,46,13,23,13,21:100:100 +3 12402601 . A G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-18602A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402601A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23310;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.754418;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.372 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,103:123:0.8374:65:-100:0.1277:18,35,12,16,8,14,21,44,12,20,8,18:100:100 +3 12402601 . A G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+9428A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402601A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23310;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.754418;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.372 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,103:123:0.8374:65:-100:0.1277:18,35,12,16,8,14,21,44,12,20,8,18:100:100 +3 12402601 . A G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-18602A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12402601A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23310;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.754418;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:5UTRintd&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=0.372 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,103:123:0.8374:65:-100:0.1277:18,35,12,16,8,14,21,44,12,20,8,18:100:100 +3 12403119 . G T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-18084G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12403119G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20966;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.678643;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.913 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,89:123:0.72358:65:-100:0.1338:18,35,3,12,6,15,24,51,4,18,8,18:100:100 +3 12403119 . G T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+9946G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12403119G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20966;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.678643;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.913 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,89:123:0.72358:65:-100:0.1338:18,35,3,12,6,15,24,51,4,18,8,18:100:100 +3 12403119 . G T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-18084G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12403119G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20966;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.678643;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.913 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,89:123:0.72358:65:-100:0.1338:18,35,3,12,6,15,24,51,4,18,8,18:100:100 +3 12404490 . T C 100 PASS DP=92;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-16713T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404490T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22485;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.727905;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=2.617 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,49:92:0.53261:65:-100:0.1402:12,17,6,6,2,6,20,34,8,12,7,11:100:100 +3 12404490 . T C 100 PASS DP=92;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+11317T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404490T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22485;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.727905;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=2.617 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,49:92:0.53261:65:-100:0.1402:12,17,6,6,2,6,20,34,8,12,7,11:100:100 +3 12404490 . T C 100 PASS DP=92;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-16713T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404490T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22485;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.727905;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28intd;CSQ_CADD_PHRED=2.617 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,49:92:0.53261:65:-100:0.1402:12,17,6,6,2,6,20,34,8,12,7,11:100:100 +3 12404490 . TG CA 100 PASS DP=93;CSQ_Allele=CA;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-16713_-8-16712inv;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404490_12404491inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.095 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,19:93:0.2043:65:-100:0:2,9,1,2,2,3,40,68,16,24,14,22:100:100 +3 12404490 . TG CA 100 PASS DP=93;CSQ_Allele=CA;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+11317_82+11318inv;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404490_12404491inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.095 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,19:93:0.2043:65:-100:0:2,9,1,2,2,3,40,68,16,24,14,22:100:100 +3 12404490 . TG CA 100 PASS DP=93;CSQ_Allele=CA;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-16713_-8-16712inv;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404490_12404491inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.095 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,19:93:0.2043:65:-100:0:2,9,1,2,2,3,40,68,16,24,14,22:100:100 +3 12404802 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-16401A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404802A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000129207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.811 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,12:135:0.08889:65:-100:0.0625:1,2,1,3,1,4,19,43,12,22,13,26:100:100 +3 12404802 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+11629A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404802A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000129207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.811 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,12:135:0.08889:65:-100:0.0625:1,2,1,3,1,4,19,43,12,22,13,26:100:100 +3 12404802 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-16401A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12404802A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000129207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.811 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,12:135:0.08889:65:-100:0.0625:1,2,1,3,1,4,19,43,12,22,13,26:100:100 +3 12405356 . A G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-15847A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12405356A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1181:3,0,1,4,0,2,22,33,9,21,9,33:100:100 +3 12405356 . A G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+12183A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12405356A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1181:3,0,1,4,0,2,22,33,9,21,9,33:100:100 +3 12405356 . A G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-15847A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12405356A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1181:3,0,1,4,0,2,22,33,9,21,9,33:100:100 +3 12405480 . G A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-15723G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12405480G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1389;CSQ_gnomADg_AN=30684;CSQ_gnomADg_AF=0.0452679;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.272 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,7:98:0.07143:65:-100:0.1327:0,6,0,1,0,0,17,30,9,13,9,20:68.558:100 +3 12405480 . G A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.82+12307G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12405480G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1389;CSQ_gnomADg_AN=30684;CSQ_gnomADg_AF=0.0452679;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.272 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,7:98:0.07143:65:-100:0.1327:0,6,0,1,0,0,17,30,9,13,9,20:68.558:100 +3 12405480 . G A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-15723G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12405480G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1389;CSQ_gnomADg_AN=30684;CSQ_gnomADg_AF=0.0452679;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.272 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,7:98:0.07143:65:-100:0.1327:0,6,0,1,0,0,17,30,9,13,9,20:68.558:100 +3 12407366 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-13837A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12407366A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3289;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.106481;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.055 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,18:128:0.14063:65:-100:0.1742:3,7,1,4,0,3,23,41,11,19,10,24:100:100 +3 12407366 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-13837A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12407366A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3289;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.106481;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.055 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,18:128:0.14063:65:-100:0.1742:3,7,1,4,0,3,23,41,11,19,10,24:100:100 +3 12407366 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-13837A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12407366A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3289;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.106481;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.055 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,18:128:0.14063:65:-100:0.1742:3,7,1,4,0,3,23,41,11,19,10,24:100:100 +3 12408278 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-12925A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12408278A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20194;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.653697;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.165 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,90:134:0.67164:65:-100:0.1007:17,29,11,12,7,14,27,48,14,19,9,17:100:100 +3 12408278 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-12925A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12408278A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20194;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.653697;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.165 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,90:134:0.67164:65:-100:0.1007:17,29,11,12,7,14,27,48,14,19,9,17:100:100 +3 12408278 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-12925A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12408278A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20194;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.653697;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.165 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,90:134:0.67164:65:-100:0.1007:17,29,11,12,7,14,27,48,14,19,9,17:100:100 +3 12409689 . G T 100 PASS DP=48;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-11514G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409689G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.298 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,21:48:0.4375:65:-100:0.3684:1,5,5,2,2,6,4,9,9,7,7,12:60.63:100 +3 12409689 . G T 100 PASS DP=48;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-11514G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409689G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.298 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,21:48:0.4375:65:-100:0.3684:1,5,5,2,2,6,4,9,9,7,7,12:60.63:100 +3 12409689 . G T 100 PASS DP=48;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-11514G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409689G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.298 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,21:48:0.4375:65:-100:0.3684:1,5,5,2,2,6,4,9,9,7,7,12:60.63:100 +3 12409699 . C G 100 PASS DP=27;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-11504C>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409699C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22439;CSQ_gnomADg_AN=22562;CSQ_gnomADg_AF=0.994548;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.013 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,27:27:1:65:-100:0.6301:2,4,8,4,4,5,2,4,8,4,4,5:100:100 +3 12409699 . C G 100 PASS DP=27;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-11504C>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409699C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22439;CSQ_gnomADg_AN=22562;CSQ_gnomADg_AF=0.994548;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.013 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,27:27:1:65:-100:0.6301:2,4,8,4,4,5,2,4,8,4,4,5:100:100 +3 12409699 . C G 100 PASS DP=27;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-11504C>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409699C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22439;CSQ_gnomADg_AN=22562;CSQ_gnomADg_AF=0.994548;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.013 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,27:27:1:65:-100:0.6301:2,4,8,4,4,5,2,4,8,4,4,5:100:100 +3 12409711 . CTC TGT 100 PASS DP=13;CSQ_Allele=TGT;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-11492_-8-11490delinsTGT;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409711_12409713delinsTGT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,13:13:1:65:-100:0:0,1,4,3,2,3,0,2,6,4,4,4:100:100 +3 12409711 . CTC TGT 100 PASS DP=13;CSQ_Allele=TGT;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-11492_83-11490delinsTGT;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409711_12409713delinsTGT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,13:13:1:65:-100:0:0,1,4,3,2,3,0,2,6,4,4,4:100:100 +3 12409711 . CTC TGT 100 PASS DP=13;CSQ_Allele=TGT;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-11492_-8-11490delinsTGT;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409711_12409713delinsTGT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,13:13:1:65:-100:0:0,1,4,3,2,3,0,2,6,4,4,4:100:100 +3 12409972 . C T 100 PASS DP=88;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-11231C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409972C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1425;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.0461823;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.348 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,8:88:0.09091:65:-51.7778:0.1852:0,2,1,1,2,2,8,33,14,8,9,16:73.683:100 +3 12409972 . C T 100 PASS DP=88;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-11231C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409972C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1425;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.0461823;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.348 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,8:88:0.09091:65:-51.7778:0.1852:0,2,1,1,2,2,8,33,14,8,9,16:73.683:100 +3 12409972 . C T 100 PASS DP=88;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-11231C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12409972C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1425;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.0461823;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.348 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,8:88:0.09091:65:-51.7778:0.1852:0,2,1,1,2,2,8,33,14,8,9,16:73.683:100 +3 12410349 . C T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-10854C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4107;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.132835;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,38:125:0.304:65:-100:0.1554:4,17,4,7,2,4,24,37,15,21,14,14:100:100 +3 12410349 . C T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-10854C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4107;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.132835;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,38:125:0.304:65:-100:0.1554:4,17,4,7,2,4,24,37,15,21,14,14:100:100 +3 12410349 . C T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-10854C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4107;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.132835;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,38:125:0.304:65:-100:0.1554:4,17,4,7,2,4,24,37,15,21,14,14:100:100 +3 12410892 . G T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-10311G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410892G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4106;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.132657;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,35:112:0.3125:65:-100:0.1515:2,13,2,7,6,5,8,40,10,19,18,17:100:100 +3 12410892 . G T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-10311G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410892G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4106;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.132657;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,35:112:0.3125:65:-100:0.1515:2,13,2,7,6,5,8,40,10,19,18,17:100:100 +3 12410892 . G T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-10311G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410892G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4106;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.132657;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,35:112:0.3125:65:-100:0.1515:2,13,2,7,6,5,8,40,10,19,18,17:100:100 +3 12410948 . G A 100 PASS DP=90;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-10255G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410948G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1628;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0526418;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,6:90:0.06667:65:-100:0.1176:0,4,0,0,0,2,9,37,9,9,8,18:63.399:100 +3 12410948 . G A 100 PASS DP=90;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-10255G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410948G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1628;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0526418;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,6:90:0.06667:65:-100:0.1176:0,4,0,0,0,2,9,37,9,9,8,18:63.399:100 +3 12410948 . G A 100 PASS DP=90;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-10255G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12410948G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1628;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0526418;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,6:90:0.06667:65:-100:0.1176:0,4,0,0,0,2,9,37,9,9,8,18:63.399:100 +3 12411238 . A C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-9965A>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12411238A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3243;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.104789;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=0.388 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,26:137:0.18978:65:-100:0.1384:3,5,5,7,1,5,21,45,9,25,11,26:100:100 +3 12411238 . A C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-9965A>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12411238A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3243;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.104789;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=0.388 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,26:137:0.18978:65:-100:0.1384:3,5,5,7,1,5,21,45,9,25,11,26:100:100 +3 12411238 . A C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-9965A>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12411238A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3243;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.104789;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=0.388 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,26:137:0.18978:65:-100:0.1384:3,5,5,7,1,5,21,45,9,25,11,26:100:100 +3 12411892 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-9311C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12411892C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4084;CSQ_gnomADg_AN=30766;CSQ_gnomADg_AF=0.132744;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.830 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,34:126:0.26984:65:-100:0.1064:7,11,4,5,3,4,17,40,10,24,14,21:100:100 +3 12411892 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-9311C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12411892C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4084;CSQ_gnomADg_AN=30766;CSQ_gnomADg_AF=0.132744;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.830 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,34:126:0.26984:65:-100:0.1064:7,11,4,5,3,4,17,40,10,24,14,21:100:100 +3 12411892 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-9311C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12411892C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4084;CSQ_gnomADg_AN=30766;CSQ_gnomADg_AF=0.132744;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.830 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,34:126:0.26984:65:-100:0.1064:7,11,4,5,3,4,17,40,10,24,14,21:100:100 +3 12412115 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-9088G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12412115G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23307;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.753833;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.692 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,94:127:0.74016:65:-100:0.1241:19,30,7,13,7,18,24,48,9,16,8,22:100:100 +3 12412115 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-9088G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12412115G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23307;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.753833;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.692 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,94:127:0.74016:65:-100:0.1241:19,30,7,13,7,18,24,48,9,16,8,22:100:100 +3 12412115 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-9088G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12412115G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23307;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.753833;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.692 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,94:127:0.74016:65:-100:0.1241:19,30,7,13,7,18,24,48,9,16,8,22:100:100 +3 12414020 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-7183C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414020C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=140;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00452109;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.183 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,13:144:0.09028:65:-100:0.1529:2,3,0,3,2,3,25,56,14,19,11,19:100:100 +3 12414020 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-7183C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414020C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=140;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00452109;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.183 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,13:144:0.09028:65:-100:0.1529:2,3,0,3,2,3,25,56,14,19,11,19:100:100 +3 12414020 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-7183C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414020C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=140;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00452109;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.183 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,13:144:0.09028:65:-100:0.1529:2,3,0,3,2,3,25,56,14,19,11,19:100:100 +3 12414290 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-6913C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414290C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1180;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0381235;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.353 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,8:134:0.0597:65:-97.0235:0.0946:1,5,0,2,0,0,20,45,6,31,12,20:100:100 +3 12414290 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-6913C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414290C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1180;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0381235;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.353 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,8:134:0.0597:65:-97.0235:0.0946:1,5,0,2,0,0,20,45,6,31,12,20:100:100 +3 12414290 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-6913C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414290C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1180;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0381235;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.353 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,8:134:0.0597:65:-97.0235:0.0946:1,5,0,2,0,0,20,45,6,31,12,20:100:100 +3 12414294 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-6909A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414294A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=153;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00494122;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.988 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.0903:2,7,1,4,0,0,19,49,8,32,11,22:100:100 +3 12414294 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-6909A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414294A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=153;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00494122;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.988 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.0903:2,7,1,4,0,0,19,49,8,32,11,22:100:100 +3 12414294 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-6909A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414294A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=153;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00494122;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.988 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.0903:2,7,1,4,0,0,19,49,8,32,11,22:100:100 +3 12414420 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-6783T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414420T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3973;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.128443;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.167 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,14:143:0.0979:65:-100:0.1588:5,2,1,2,1,3,26,51,10,25,11,20:100:100 +3 12414420 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-6783T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414420T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3973;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.128443;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.167 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,14:143:0.0979:65:-100:0.1588:5,2,1,2,1,3,26,51,10,25,11,20:100:100 +3 12414420 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-6783T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12414420T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3973;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.128443;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=1.167 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,14:143:0.0979:65:-100:0.1588:5,2,1,2,1,3,26,51,10,25,11,20:100:100 +3 12415839 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-5364C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12415839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21048;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.68196;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.408 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,63:90:0.7:65:-100:0.2562:10,18,4,16,4,11,12,32,7,20,7,12:100:100 +3 12415839 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-5364C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12415839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21048;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.68196;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.408 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,63:90:0.7:65:-100:0.2562:10,18,4,16,4,11,12,32,7,20,7,12:100:100 +3 12415839 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-5364C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12415839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21048;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.68196;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.408 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,63:90:0.7:65:-100:0.2562:10,18,4,16,4,11,12,32,7,20,7,12:100:100 +3 12416182 . A G 100 PASS DP=118;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-5021A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12416182A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=139;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00448937;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.482 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0.1511:3,2,1,1,2,2,25,41,7,20,13,12:100:100 +3 12416182 . A G 100 PASS DP=118;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-5021A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12416182A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=139;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00448937;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.482 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0.1511:3,2,1,1,2,2,25,41,7,20,13,12:100:100 +3 12416182 . A G 100 PASS DP=118;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-5021A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12416182A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=139;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00448937;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.482 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0.1511:3,2,1,1,2,2,25,41,7,20,13,12:100:100 +3 12416550 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-4653A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12416550A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4132;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.133532;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.811 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,50:156:0.32051:65:-100:0.1429:6,20,3,7,4,10,26,59,7,29,11,24:100:100 +3 12416550 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-4653A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12416550A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4132;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.133532;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.811 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,50:156:0.32051:65:-100:0.1429:6,20,3,7,4,10,26,59,7,29,11,24:100:100 +3 12416550 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-4653A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12416550A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4132;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.133532;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.811 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,50:156:0.32051:65:-100:0.1429:6,20,3,7,4,10,26,59,7,29,11,24:100:100 +3 12418612 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-2591C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12418612C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12631;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.409114;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,40:134:0.29851:65:-100:0.1242:8,15,4,4,1,8,21,44,11,17,10,31:100:100 +3 12418612 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-2591C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12418612C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12631;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.409114;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,40:134:0.29851:65:-100:0.1242:8,15,4,4,1,8,21,44,11,17,10,31:100:100 +3 12418612 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-2591C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12418612C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12631;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.409114;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=2.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,40:134:0.29851:65:-100:0.1242:8,15,4,4,1,8,21,44,11,17,10,31:100:100 +3 12418759 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-2444T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12418759T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,11:140:0.07857:65:-100:0.1566:3,2,1,2,1,2,17,45,18,27,14,19:100:100 +3 12418759 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-2444T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12418759T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,11:140:0.07857:65:-100:0.1566:3,2,1,2,1,2,17,45,18,27,14,19:100:100 +3 12418759 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-2444T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12418759T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,11:140:0.07857:65:-100:0.1566:3,2,1,2,1,2,17,45,18,27,14,19:100:100 +3 12419475 . T C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-1728T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12419475T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17014;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.55115;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=5.156 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,52:129:0.4031:65:-100:0.14:14,11,0,8,9,10,26,30,7,31,15,20:100:100 +3 12419475 . T C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-1728T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12419475T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17014;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.55115;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=5.156 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,52:129:0.4031:65:-100:0.14:14,11,0,8,9,10,26,30,7,31,15,20:100:100 +3 12419475 . T C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-1728T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12419475T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17014;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.55115;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=5.156 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,52:129:0.4031:65:-100:0.14:14,11,0,8,9,10,26,30,7,31,15,20:100:100 +3 12420103 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-1100C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420103C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=258;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0083398;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,12:111:0.10811:65:-100:0.1898:0,6,0,3,0,3,16,47,4,20,5,19:100:100 +3 12420103 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-1100C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420103C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=258;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0083398;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,12:111:0.10811:65:-100:0.1898:0,6,0,3,0,3,16,47,4,20,5,19:100:100 +3 12420103 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-1100C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420103C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=258;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0083398;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,12:111:0.10811:65:-100:0.1898:0,6,0,3,0,3,16,47,4,20,5,19:100:100 +3 12420297 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-906A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420297A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3107;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.100472;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,29:143:0.2028:65:-100:0.1173:2,14,1,3,4,5,19,56,14,25,9,20:100:100 +3 12420297 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-906A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420297A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3107;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.100472;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,29:143:0.2028:65:-100:0.1173:2,14,1,3,4,5,19,56,14,25,9,20:100:100 +3 12420297 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-906A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420297A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3107;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.100472;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,29:143:0.2028:65:-100:0.1173:2,14,1,3,4,5,19,56,14,25,9,20:100:100 +3 12420450 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-753T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420450T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.702 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,22:128:0.17188:65:-100:0.1233:5,10,3,1,1,2,23,38,21,20,9,17:100:100 +3 12420450 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-753T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420450T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.702 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,22:128:0.17188:65:-100:0.1233:5,10,3,1,1,2,23,38,21,20,9,17:100:100 +3 12420450 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-753T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420450T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.702 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,22:128:0.17188:65:-100:0.1233:5,10,3,1,1,2,23,38,21,20,9,17:100:100 +3 12420575 . A G 100 PASS DP=60;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-628A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420575A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21463;CSQ_gnomADg_AN=30784;CSQ_gnomADg_AF=0.697213;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,39:60:0.65:65:-100:0.2771:1,16,3,9,6,4,5,22,8,12,7,6:100:100 +3 12420575 . A G 100 PASS DP=60;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-628A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420575A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21463;CSQ_gnomADg_AN=30784;CSQ_gnomADg_AF=0.697213;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,39:60:0.65:65:-100:0.2771:1,16,3,9,6,4,5,22,8,12,7,6:100:100 +3 12420575 . A G 100 PASS DP=60;CSQ_Allele=G;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-628A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12420575A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21463;CSQ_gnomADg_AN=30784;CSQ_gnomADg_AF=0.697213;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,39:60:0.65:65:-100:0.2771:1,16,3,9,6,4,5,22,8,12,7,6:100:100 +3 12421089 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.-8-114C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12421089C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1227468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4108;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.132773;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=0.033 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,40:150:0.26667:65:-100:0.1667:2,16,3,6,5,8,18,52,14,23,18,25:100:100 +3 12421089 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.83-114C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12421089C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1227468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4108;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.132773;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=0.033 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,40:150:0.26667:65:-100:0.1667:2,16,3,6,5,8,18,52,14,23,18,25:100:100 +3 12421089 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.-8-114C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12421089C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1227468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4108;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.132773;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:5UTR&PPARG:5UTRint&PPARG:5UTRinta&PPARG:E28int&PPARG:E28inta;CSQ_CADD_PHRED=0.033 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,40:150:0.26667:65:-100:0.1667:2,16,3,6,5,8,18,52,14,23,18,25:100:100 +3 12475557 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_005037.7;CSQ_HGVSc=NM_005037.7:c.1341C>T;CSQ_HGVSp=NP_005028.5:p.His447%3D;CSQ_HGVSg=3:g.12475557C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=8139;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=PEROXISOME_PROLIFERATOR-ACTIVATED_RECEPTOR-GAMMA_POLYMORPHISM&Obesity&PPARG-related_familial_partial_lipodystrophy&Glioma_susceptibility_1&Diabetes_Mellitus&_Noninsulin-Dependent&_with_Acanthosis_Nigricans_and_Hypertension¬_specified¬_provided;CSQ_gnomADg_AC=4071;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.131577;CSQ_gnomADe_AC=33175;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.134805;CSQ_gnomADe_Hom=2563;CSQ_COSMICcMuts=COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:3UTR&PPARG:H238H&PPARG:H447H&PPARG:H449H&PPARG:H477H;CSQ_CADD_PHRED=8.810 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,17:127:0.13386:65:-100:0.1477:3,5,2,4,1,2,16,47,7,23,13,21:100:100 +3 12475557 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_015869.5;CSQ_HGVSc=NM_015869.5:c.1431C>T;CSQ_HGVSp=NP_056953.2:p.His477%3D;CSQ_HGVSg=3:g.12475557C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=8139;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=PEROXISOME_PROLIFERATOR-ACTIVATED_RECEPTOR-GAMMA_POLYMORPHISM&Obesity&PPARG-related_familial_partial_lipodystrophy&Glioma_susceptibility_1&Diabetes_Mellitus&_Noninsulin-Dependent&_with_Acanthosis_Nigricans_and_Hypertension¬_specified¬_provided;CSQ_gnomADg_AC=4071;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.131577;CSQ_gnomADe_AC=33175;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.134805;CSQ_gnomADe_Hom=2563;CSQ_COSMICcMuts=COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:3UTR&PPARG:H238H&PPARG:H447H&PPARG:H449H&PPARG:H477H;CSQ_CADD_PHRED=8.810 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,17:127:0.13386:65:-100:0.1477:3,5,2,4,1,2,16,47,7,23,13,21:100:100 +3 12475557 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=PPARG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_138711.6;CSQ_HGVSc=NM_138711.6:c.1341C>T;CSQ_HGVSp=NP_619725.3:p.His447%3D;CSQ_HGVSg=3:g.12475557C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=8139;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=PEROXISOME_PROLIFERATOR-ACTIVATED_RECEPTOR-GAMMA_POLYMORPHISM&Obesity&PPARG-related_familial_partial_lipodystrophy&Glioma_susceptibility_1&Diabetes_Mellitus&_Noninsulin-Dependent&_with_Acanthosis_Nigricans_and_Hypertension¬_specified¬_provided;CSQ_gnomADg_AC=4071;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.131577;CSQ_gnomADe_AC=33175;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.134805;CSQ_gnomADe_Hom=2563;CSQ_COSMICcMuts=COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736&COSV55140736;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPARG:3UTR&PPARG:H238H&PPARG:H447H&PPARG:H449H&PPARG:H477H;CSQ_CADD_PHRED=8.810 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,17:127:0.13386:65:-100:0.1477:3,5,2,4,1,2,16,47,7,23,13,21:100:100 +3 12626394 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=RAF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/17;CSQ_INTRON=.;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.1755A>G;CSQ_HGVSp=NP_002871.1:p.Val585%3D;CSQ_HGVSg=3:g.12626394T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=40626;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Noonan_syndrome_5&LEOPARD_syndrome_2&Noonan_syndrome_and_Noonan-related_syndrome&RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=580;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0187363;CSQ_gnomADe_AC=1215;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.00493613;CSQ_gnomADe_Hom=39;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAF1:V471V&RAF1:V504V&RAF1:V524V&RAF1:V552V&RAF1:V585V&RAF1:V605V;CSQ_CADD_PHRED=10.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,16:128:0.125:65:-100:0.1467:2,8,2,1,0,3,24,49,14,14,12,15:100:100 +3 12640428 . G A 100 PASS DP=93;CSQ_Allele=A;CSQ_SYMBOL=RAF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/16;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.1108+762C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12640428G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4986;CSQ_gnomADg_AN=30792;CSQ_gnomADg_AF=0.161925;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52576229&COSV52576229&COSV52576229&COSV52576229;CSQ_COSMICncMuts=COSV52576229;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAF1:G256int&RAF1:G256intd&RAF1:G289int&RAF1:G289intd&RAF1:G309int&RAF1:G309intd&RAF1:G337int&RAF1:G337intd&RAF1:G370int&RAF1:G370intd&RAF1:G390int&RAF1:G390intd;CSQ_CADD_PHRED=12.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,12:93:0.12903:65:-100:0.1308:3,4,1,2,1,1,20,32,10,13,9,9:100:100 +3 12651982 . G C 100 PASS DP=117;CSQ_Allele=C;CSQ_SYMBOL=RAF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/16;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.321-1148C>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12651982G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6439;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.208341;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAF1:C26int;CSQ_CADD_PHRED=1.313 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,12:117:0.10256:65:-100:0.1702:2,5,1,1,1,2,20,52,8,13,10,14:100:100 +3 12657718 . A G 100 PASS DP=118;CSQ_Allele=G;CSQ_SYMBOL=RAF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/16;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.207+2296T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12657718A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25875;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.835972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAF1:C26int;CSQ_CADD_PHRED=4.992 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,90:118:0.76271:65:-100:0.1748:15,23,7,15,7,23,21,34,9,18,9,27:100:100 +3 12666367 . A G 100 PASS DP=38;CSQ_Allele=G;CSQ_SYMBOL=RAF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/16;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.-26-6121T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12666367A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.619 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,30:38:0.78947:65:-100:0.4571:5,7,6,3,5,4,5,8,7,5,7,6:100:100 +3 12670000 . A G 100 PASS DP=99;CSQ_Allele=G;CSQ_SYMBOL=RAF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/16;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.-26-9754T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12670000A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=199;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00642848;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.386 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,8:99:0.08081:65:-100:0.0748:2,1,1,2,0,2,20,34,5,20,4,16:66.107:100 +3 12691265 . G A 100 PASS DP=64;CSQ_Allele=A;CSQ_SYMBOL=RAF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/16;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.-27+14047C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12691265G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17951;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.581014;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAF1:5UTRint;CSQ_CADD_PHRED=0.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,34:64:0.53125:65:-100:0.3263:5,10,3,5,5,6,8,22,6,10,7,11:100:100 +3 12695252 . C G 100 PASS DP=82;CSQ_Allele=G;CSQ_SYMBOL=RAF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/16;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.-27+10060G>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12695252C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25328;CSQ_gnomADg_AN=30258;CSQ_gnomADg_AF=0.837068;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAF1:5UTRint;CSQ_CADD_PHRED=0.760 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,57:82:0.69512:65:-100:0.2336:10,16,4,6,8,13,13,21,9,11,12,16:100:100 +3 12704438 . C A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=RAF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/16;CSQ_Feature=NM_002880.4;CSQ_HGVSc=NM_002880.4:c.-27+874G>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.12704438C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7997;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.259289;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAF1:5UTRint;CSQ_CADD_PHRED=3.547 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,33:129:0.25581:65:-100:0.1457:3,16,1,8,2,3,12,60,5,24,7,21:100:100 +3 37038771 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=MLH1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/18;CSQ_Feature=NM_000249.4;CSQ_HGVSc=NM_000249.4:c.207+571C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.37038771C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=90024;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome¬_provided;CSQ_gnomADg_AC=12203;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.39561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MLH1:5UTR&MLH1:5UTRint&MLH1:5UTRintd&MLH1:R69int&MLH1:R69intd;CSQ_CADD_PHRED=4.249 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,22:116:0.18966:65:-100:0.1831:6,4,1,1,2,8,23,32,11,16,14,20:100:100 +3 37038771 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=MLH1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/18;CSQ_Feature=NM_001167617.3;CSQ_HGVSc=NM_001167617.3:c.-83+571C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.37038771C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=90024;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome¬_provided;CSQ_gnomADg_AC=12203;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.39561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MLH1:5UTR&MLH1:5UTRint&MLH1:5UTRintd&MLH1:R69int&MLH1:R69intd;CSQ_CADD_PHRED=4.249 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,22:116:0.18966:65:-100:0.1831:6,4,1,1,2,8,23,32,11,16,14,20:100:100 +3 37038771 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=MLH1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/16;CSQ_Feature=NM_001258271.2;CSQ_HGVSc=NM_001258271.2:c.207+571C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.37038771C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=90024;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome¬_provided;CSQ_gnomADg_AC=12203;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.39561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MLH1:5UTR&MLH1:5UTRint&MLH1:5UTRintd&MLH1:R69int&MLH1:R69intd;CSQ_CADD_PHRED=4.249 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,22:116:0.18966:65:-100:0.1831:6,4,1,1,2,8,23,32,11,16,14,20:100:100 +3 37038771 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=MLH1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/20;CSQ_INTRON=.;CSQ_Feature=NM_001258274.3;CSQ_HGVSc=NM_001258274.3:c.-537C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.37038771C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=90024;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome¬_provided;CSQ_gnomADg_AC=12203;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.39561;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MLH1:5UTR&MLH1:5UTRint&MLH1:5UTRintd&MLH1:R69int&MLH1:R69intd;CSQ_CADD_PHRED=4.249 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,22:116:0.18966:65:-100:0.1831:6,4,1,1,2,8,23,32,11,16,14,20:100:100 +3 37053568 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=MLH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/19;CSQ_INTRON=.;CSQ_Feature=NM_000249.4;CSQ_HGVSc=NM_000249.4:c.655A>G;CSQ_HGVSp=NP_000240.1:p.Ile219Val;CSQ_HGVSg=3:g.37053568A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=36557;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome&Malignant_tumor_of_breast&Lynch_syndrome_1&Colorectal_cancer&_hereditary_nonpolyposis&_type_2&Hereditary_cancer-predisposing_syndrome&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified¬_provided;CSQ_gnomADg_AC=7054;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.228078;CSQ_gnomADe_AC=57480;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.233847;CSQ_gnomADe_Hom=8106;CSQ_COSMICcMuts=COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800;CSQ_COSMICncMuts=COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.292;CSQ_Mastermind_MMID3=MLH1:5UTR&MLH1:I121V&MLH1:I186V&MLH1:I219V;CSQ_CADD_PHRED=19.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,18:142:0.12676:65:-100:0.0897:1,7,3,1,2,4,24,39,16,21,15,27:100:100 +3 37053568 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=MLH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/19;CSQ_INTRON=.;CSQ_Feature=NM_001167617.3;CSQ_HGVSc=NM_001167617.3:c.361A>G;CSQ_HGVSp=NP_001161089.1:p.Ile121Val;CSQ_HGVSg=3:g.37053568A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=36557;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome&Malignant_tumor_of_breast&Lynch_syndrome_1&Colorectal_cancer&_hereditary_nonpolyposis&_type_2&Hereditary_cancer-predisposing_syndrome&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified¬_provided;CSQ_gnomADg_AC=7054;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.228078;CSQ_gnomADe_AC=57480;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.233847;CSQ_gnomADe_Hom=8106;CSQ_COSMICcMuts=COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800;CSQ_COSMICncMuts=COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.292;CSQ_Mastermind_MMID3=MLH1:5UTR&MLH1:I121V&MLH1:I186V&MLH1:I219V;CSQ_CADD_PHRED=19.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,18:142:0.12676:65:-100:0.0897:1,7,3,1,2,4,24,39,16,21,15,27:100:100 +3 37053568 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=MLH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/17;CSQ_INTRON=.;CSQ_Feature=NM_001258271.2;CSQ_HGVSc=NM_001258271.2:c.655A>G;CSQ_HGVSp=NP_001245200.1:p.Ile219Val;CSQ_HGVSg=3:g.37053568A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=36557;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome&Malignant_tumor_of_breast&Lynch_syndrome_1&Colorectal_cancer&_hereditary_nonpolyposis&_type_2&Hereditary_cancer-predisposing_syndrome&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified¬_provided;CSQ_gnomADg_AC=7054;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.228078;CSQ_gnomADe_AC=57480;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.233847;CSQ_gnomADe_Hom=8106;CSQ_COSMICcMuts=COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800;CSQ_COSMICncMuts=COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.292;CSQ_Mastermind_MMID3=MLH1:5UTR&MLH1:I121V&MLH1:I186V&MLH1:I219V;CSQ_CADD_PHRED=19.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,18:142:0.12676:65:-100:0.0897:1,7,3,1,2,4,24,39,16,21,15,27:100:100 +3 37053568 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=MLH1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/20;CSQ_INTRON=.;CSQ_Feature=NM_001258274.3;CSQ_HGVSc=NM_001258274.3:c.-69A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.37053568A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=36557;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lynch_syndrome&Malignant_tumor_of_breast&Lynch_syndrome_1&Colorectal_cancer&_hereditary_nonpolyposis&_type_2&Hereditary_cancer-predisposing_syndrome&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified¬_provided;CSQ_gnomADg_AC=7054;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.228078;CSQ_gnomADe_AC=57480;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.233847;CSQ_gnomADe_Hom=8106;CSQ_COSMICcMuts=COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800;CSQ_COSMICncMuts=COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800&COSV51613800;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,18:142:0.12676:65:-100:0.0897:1,7,3,1,2,4,24,39,16,21,15,27:100:100 +3 37056000 . C A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=MLH1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=9/19;CSQ_INTRON=.;CSQ_Feature=NM_000249.4;CSQ_HGVSc=NM_000249.4:c.755C>A;CSQ_HGVSp=NP_000240.1:p.Ser252Ter;CSQ_HGVSg=3:g.37056000C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=17078;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_hereditary_nonpolyposis&_type_2&Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882;CSQ_COSMICncMuts=COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.15;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MLH1:S11X&MLH1:S154X&MLH1:S252X;CSQ_CADD_PHRED=36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,15:128:0.11719:65:-100:0.0986:2,2,4,3,1,3,18,44,8,25,16,17:100:100 +3 37056000 . C A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=MLH1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=9/19;CSQ_INTRON=.;CSQ_Feature=NM_001167617.3;CSQ_HGVSc=NM_001167617.3:c.461C>A;CSQ_HGVSp=NP_001161089.1:p.Ser154Ter;CSQ_HGVSg=3:g.37056000C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=17078;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_hereditary_nonpolyposis&_type_2&Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882;CSQ_COSMICncMuts=COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.15;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MLH1:S11X&MLH1:S154X&MLH1:S252X;CSQ_CADD_PHRED=36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,15:128:0.11719:65:-100:0.0986:2,2,4,3,1,3,18,44,8,25,16,17:100:100 +3 37056000 . C A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=MLH1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=9/17;CSQ_INTRON=.;CSQ_Feature=NM_001258271.2;CSQ_HGVSc=NM_001258271.2:c.755C>A;CSQ_HGVSp=NP_001245200.1:p.Ser252Ter;CSQ_HGVSg=3:g.37056000C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=17078;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_hereditary_nonpolyposis&_type_2&Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882;CSQ_COSMICncMuts=COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.15;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MLH1:S11X&MLH1:S154X&MLH1:S252X;CSQ_CADD_PHRED=36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,15:128:0.11719:65:-100:0.0986:2,2,4,3,1,3,18,44,8,25,16,17:100:100 +3 37056000 . C A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=MLH1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=10/20;CSQ_INTRON=.;CSQ_Feature=NM_001258274.3;CSQ_HGVSc=NM_001258274.3:c.32C>A;CSQ_HGVSp=NP_001245203.1:p.Ser11Ter;CSQ_HGVSg=3:g.37056000C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=17078;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_hereditary_nonpolyposis&_type_2&Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882;CSQ_COSMICncMuts=COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882&COSV51613882;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.15;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MLH1:S11X&MLH1:S154X&MLH1:S252X;CSQ_CADD_PHRED=36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,15:128:0.11719:65:-100:0.0986:2,2,4,3,1,3,18,44,8,25,16,17:100:100 +3 37061883 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=MLH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/19;CSQ_INTRON=.;CSQ_Feature=NM_000249.4;CSQ_HGVSc=NM_000249.4:c.967C>A;CSQ_HGVSp=NP_000240.1:p.Leu323Met;CSQ_HGVSg=3:g.37061883C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1767761;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51614917&COSV51614917&COSV51614917&COSV51614917&COSV51614917&COSV51614917;CSQ_COSMICncMuts=COSV51614917&COSV51614917;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.553;CSQ_Mastermind_MMID3=MLH1:L225M&MLH1:L323M;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,22:147:0.14966:65:-100:0.1302:3,5,0,5,5,4,26,51,13,21,12,24:100:100 +3 37061883 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=MLH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/19;CSQ_INTRON=.;CSQ_Feature=NM_001167617.3;CSQ_HGVSc=NM_001167617.3:c.673C>A;CSQ_HGVSp=NP_001161089.1:p.Leu225Met;CSQ_HGVSg=3:g.37061883C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1767761;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51614917&COSV51614917&COSV51614917&COSV51614917&COSV51614917&COSV51614917;CSQ_COSMICncMuts=COSV51614917&COSV51614917;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.553;CSQ_Mastermind_MMID3=MLH1:L225M&MLH1:L323M;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,22:147:0.14966:65:-100:0.1302:3,5,0,5,5,4,26,51,13,21,12,24:100:100 +3 37061883 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=MLH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/17;CSQ_INTRON=.;CSQ_Feature=NM_001258271.2;CSQ_HGVSc=NM_001258271.2:c.967C>A;CSQ_HGVSp=NP_001245200.1:p.Leu323Met;CSQ_HGVSg=3:g.37061883C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1767761;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51614917&COSV51614917&COSV51614917&COSV51614917&COSV51614917&COSV51614917;CSQ_COSMICncMuts=COSV51614917&COSV51614917;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.553;CSQ_Mastermind_MMID3=MLH1:L225M&MLH1:L323M;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,22:147:0.14966:65:-100:0.1302:3,5,0,5,5,4,26,51,13,21,12,24:100:100 +3 37061883 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=MLH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/20;CSQ_INTRON=.;CSQ_Feature=NM_001258274.3;CSQ_HGVSc=NM_001258274.3:c.244C>A;CSQ_HGVSp=NP_001245203.1:p.Leu82Met;CSQ_HGVSg=3:g.37061883C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1767761;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51614917&COSV51614917&COSV51614917&COSV51614917&COSV51614917&COSV51614917;CSQ_COSMICncMuts=COSV51614917&COSV51614917;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.553;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,22:147:0.14966:65:-100:0.1302:3,5,0,5,5,4,26,51,13,21,12,24:100:100 +3 41266101 . C A 100 PASS DP=104;CSQ_Allele=A;CSQ_SYMBOL=CTNNB1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/16;CSQ_INTRON=.;CSQ_Feature=NM_001098209.2;CSQ_HGVSc=NM_001098209.2:c.98C>A;CSQ_HGVSp=NP_001091679.1:p.Ser33Tyr;CSQ_HGVSg=3:g.41266101C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=17577;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Medulloblastoma&Pancreatic_adenocarcinoma&Transitional_cell_carcinoma_of_the_bladder&Carcinoma_of_esophagus&Malignant_melanoma_of_skin&Lung_adenocarcinoma&Pilomatrixoma&Gastric_adenocarcinoma&Neoplasm_of_the_large_intestine&Carcinoma_of_colon&Prostate_adenocarcinoma&Endometrial_neoplasm&Malignant_neoplasm_of_body_of_uterus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62688644&COSV62688644&COSV62688644&COSV62688644&COSV62688644;CSQ_COSMICncMuts=COSV62688644;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=CTNNB1:S33;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.495;CSQ_Mastermind_MMID3=CTNNB1:S26Y&CTNNB1:S33Y;CSQ_CADD_PHRED=27.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,6:104:0.05769:65:-99.0309:0.1034:0,3,1,2,0,0,16,42,5,13,12,16:77.911:100 +3 41266101 . C A 100 PASS DP=104;CSQ_Allele=A;CSQ_SYMBOL=CTNNB1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/16;CSQ_INTRON=.;CSQ_Feature=NM_001098210.2;CSQ_HGVSc=NM_001098210.2:c.98C>A;CSQ_HGVSp=NP_001091680.1:p.Ser33Tyr;CSQ_HGVSg=3:g.41266101C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=17577;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Medulloblastoma&Pancreatic_adenocarcinoma&Transitional_cell_carcinoma_of_the_bladder&Carcinoma_of_esophagus&Malignant_melanoma_of_skin&Lung_adenocarcinoma&Pilomatrixoma&Gastric_adenocarcinoma&Neoplasm_of_the_large_intestine&Carcinoma_of_colon&Prostate_adenocarcinoma&Endometrial_neoplasm&Malignant_neoplasm_of_body_of_uterus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62688644&COSV62688644&COSV62688644&COSV62688644&COSV62688644;CSQ_COSMICncMuts=COSV62688644;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=CTNNB1:S33;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.495;CSQ_Mastermind_MMID3=CTNNB1:S26Y&CTNNB1:S33Y;CSQ_CADD_PHRED=27.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,6:104:0.05769:65:-99.0309:0.1034:0,3,1,2,0,0,16,42,5,13,12,16:77.911:100 +3 41266133 . CCTT C 100 LowSupport;rescued DP=119;CSQ_Allele=-;CSQ_SYMBOL=CTNNB1;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=3/16;CSQ_INTRON=.;CSQ_Feature=NM_001098209.2;CSQ_HGVSc=NM_001098209.2:c.133_135del;CSQ_HGVSp=NP_001091679.1:p.Ser45del;CSQ_HGVSg=3:g.41266136_41266138del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=17576;CSQ_ClinVar_CLNSIG=Pathogenic&other;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Nephroblastoma&Carcinoma_of_colon;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62688630&COSV62688630&COSV62688630&COSV62688630&COSV62688630;CSQ_COSMICncMuts=COSV62688630;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CTNNB1:S38del&CTNNB1:S45del;CSQ_CADD_PHRED=22.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,5:119:0.04202:65:-98.6903:0:0,5,0,0,0,0,20,37,7,22,7,27:52.102:100 +3 41266133 . CCTT C 100 LowSupport;rescued DP=119;CSQ_Allele=-;CSQ_SYMBOL=CTNNB1;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=3/16;CSQ_INTRON=.;CSQ_Feature=NM_001098210.2;CSQ_HGVSc=NM_001098210.2:c.133_135del;CSQ_HGVSp=NP_001091680.1:p.Ser45del;CSQ_HGVSg=3:g.41266136_41266138del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=17576;CSQ_ClinVar_CLNSIG=Pathogenic&other;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Nephroblastoma&Carcinoma_of_colon;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62688630&COSV62688630&COSV62688630&COSV62688630&COSV62688630;CSQ_COSMICncMuts=COSV62688630;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CTNNB1:S38del&CTNNB1:S45del;CSQ_CADD_PHRED=22.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,5:119:0.04202:65:-98.6903:0:0,5,0,0,0,0,20,37,7,22,7,27:52.102:100 +3 47058624 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=SETD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_014159.7;CSQ_HGVSc=NM_014159.7:c.7654G>A;CSQ_HGVSp=NP_054878.5:p.Gly2552Arg;CSQ_HGVSg=3:g.47058624C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57429120;CSQ_COSMICncMuts=COSV57429120;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.944;CSQ_Mastermind_MMID3=SETD2:G2552R;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,6:123:0.04878:65:-100:0.1087:1,2,1,1,0,1,24,47,11,18,8,15:76.644:100 +3 47125385 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=SETD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/21;CSQ_INTRON=.;CSQ_Feature=NM_014159.7;CSQ_HGVSc=NM_014159.7:c.5885C>T;CSQ_HGVSp=NP_054878.5:p.Pro1962Leu;CSQ_HGVSg=3:g.47125385G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=135202;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Luscan-Lumish_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=15217;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.49313;CSQ_gnomADe_AC=132662;CSQ_gnomADe_AN=246136;CSQ_gnomADe_AF=0.538978;CSQ_gnomADe_Hom=36612;CSQ_COSMICcMuts=COSV57428846;CSQ_COSMICncMuts=COSV57428846&COSV57428846;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.033;CSQ_Mastermind_MMID3=SETD2:P1918L&SETD2:P1962L;CSQ_CADD_PHRED=16.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,89:123:0.72358:65:-100:0.1908:18,30,8,11,5,17,22,45,10,14,9,23:100:100 +3 47162661 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=SETD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/21;CSQ_INTRON=.;CSQ_Feature=NM_014159.7;CSQ_HGVSc=NM_014159.7:c.3465T>C;CSQ_HGVSp=NP_054878.5:p.Asn1155%3D;CSQ_HGVSg=3:g.47162661A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=586533;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Luscan-Lumish_syndrome¬_provided;CSQ_gnomADg_AC=20281;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.656811;CSQ_gnomADe_AC=156876;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.637459;CSQ_gnomADe_Hom=50756;CSQ_COSMICcMuts=COSV57430115;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SETD2:N1111N&SETD2:N1155N;CSQ_CADD_PHRED=7.812 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,82:120:0.68333:65:-100:0.1176:15,28,3,15,10,11,18,44,8,22,12,16:100:100 +3 47163127 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=SETD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/21;CSQ_INTRON=.;CSQ_Feature=NM_014159.7;CSQ_HGVSc=NM_014159.7:c.2999T>C;CSQ_HGVSp=NP_054878.5:p.Phe1000Ser;CSQ_HGVSg=3:g.47163127A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.272;CSQ_Mastermind_MMID3=SETD2:F1000S;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,7:146:0.04795:65:-100:0.1361:1,1,2,2,1,0,23,50,10,21,15,27:79.566:100 +3 49433401 . C T 100 PASS DP=113;CSQ_Allele=T;CSQ_SYMBOL=RHOA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_001664.4;CSQ_HGVSc=NM_001664.4:c.-3+15852G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.49433401C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30359;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.981158;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.007 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,113:113:1:65:-100:0.1691:21,32,8,23,9,20,21,32,8,23,9,20:100:100 +3 49721511 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=MST1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/18;CSQ_INTRON=.;CSQ_Feature=NM_020998.3;CSQ_HGVSc=NM_020998.3:c.2128C>T;CSQ_HGVSp=NP_066278.3:p.Arg710Cys;CSQ_HGVSg=3:g.49721511G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=245816;CSQ_gnomADe_AF=2.44085e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=0.916;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,8:132:0.06061:65:-100:0.2235:0,1,2,2,1,2,20,53,11,19,6,23:77.298:100 +3 49721532 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=MST1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/18;CSQ_INTRON=.;CSQ_Feature=NM_020998.3;CSQ_HGVSc=NM_020998.3:c.2107C>T;CSQ_HGVSp=NP_066278.3:p.Arg703Cys;CSQ_HGVSg=3:g.49721532G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8094;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.262247;CSQ_gnomADe_AC=63362;CSQ_gnomADe_AN=245606;CSQ_gnomADe_AF=0.257982;CSQ_gnomADe_Hom=9591;CSQ_COSMICcMuts=COSV56532741;CSQ_COSMICncMuts=COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741&COSV56532741;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=0.515;CSQ_Mastermind_MMID3=MST1:R703C;CSQ_CADD_PHRED=20.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,53:152:0.34868:65:-100:0.1364:7,20,5,6,1,14,23,58,15,26,6,24:100:100 +3 49721798 . C A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=MST1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/18;CSQ_INTRON=.;CSQ_Feature=NM_020998.3;CSQ_HGVSc=NM_020998.3:c.1965G>T;CSQ_HGVSp=NP_066278.3:p.Arg655%3D;CSQ_HGVSg=3:g.49721798C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8645;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.2799;CSQ_gnomADe_AC=65753;CSQ_gnomADe_AN=245594;CSQ_gnomADe_AF=0.26773;CSQ_gnomADe_Hom=10309;CSQ_COSMICcMuts=COSV99610564;CSQ_COSMICncMuts=COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564&COSV99610564;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.33;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MST1:R655R;CSQ_CADD_PHRED=8.455 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,35:121:0.28926:65:-100:0.0902:5,17,2,3,2,6,25,54,6,11,10,15:100:100 +3 49723141 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=MST1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/18;CSQ_INTRON=.;CSQ_Feature=NM_020998.3;CSQ_HGVSc=NM_020998.3:c.1275T>C;CSQ_HGVSp=NP_066278.3:p.His425%3D;CSQ_HGVSg=3:g.49723141A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=78;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.00252215;CSQ_gnomADe_AC=1068;CSQ_gnomADe_AN=245750;CSQ_gnomADe_AF=0.00434588;CSQ_gnomADe_Hom=22;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MST1:H425H;CSQ_CADD_PHRED=0.039 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,11:156:0.07051:65:-100:0.1186:1,4,0,2,1,3,27,45,7,28,15,34:100:100 +3 49723784 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=MST1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/18;CSQ_INTRON=.;CSQ_Feature=NM_020998.3;CSQ_HGVSc=NM_020998.3:c.978G>T;CSQ_HGVSp=NP_066278.3:p.Pro326%3D;CSQ_HGVSg=3:g.49723784C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=769273;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12881;CSQ_gnomADg_AN=28876;CSQ_gnomADg_AF=0.44608;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56535754&COSV56535754&COSV56535754;CSQ_COSMICncMuts=COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754&COSV56535754;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MST1:P326P;CSQ_CADD_PHRED=10.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,37:106:0.34906:65:-100:0.3161:2,13,0,8,1,13,9,44,4,19,3,27:100:100 +3 49723817 . G T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=MST1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/18;CSQ_INTRON=.;CSQ_Feature=NM_020998.3;CSQ_HGVSc=NM_020998.3:c.945C>A;CSQ_HGVSp=NP_066278.3:p.Gly315%3D;CSQ_HGVSg=3:g.49723817G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=275;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.00890775;CSQ_gnomADe_AC=564;CSQ_gnomADe_AN=245186;CSQ_gnomADe_AF=0.00230029;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,24:125:0.192:65:-100:0.2424:3,13,4,1,0,3,20,43,12,20,6,24:100:100 +3 49723867 . G T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=MST1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/18;CSQ_INTRON=.;CSQ_Feature=NM_020998.3;CSQ_HGVSc=NM_020998.3:c.895C>A;CSQ_HGVSp=NP_066278.3:p.Arg299Ser;CSQ_HGVSg=3:g.49723867G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=277;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00895223;CSQ_gnomADe_AC=557;CSQ_gnomADe_AN=244988;CSQ_gnomADe_AF=0.00227358;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.379;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,22:144:0.15278:65:-100:0.1479:1,9,5,2,0,5,23,46,20,20,12,23:100:100 +3 49724808 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=MST1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/18;CSQ_INTRON=.;CSQ_Feature=NM_020998.3;CSQ_HGVSc=NM_020998.3:c.459A>G;CSQ_HGVSp=NP_066278.3:p.Pro153%3D;CSQ_HGVSg=3:g.49724808T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25352;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.820135;CSQ_gnomADe_AC=212238;CSQ_gnomADe_AN=245664;CSQ_gnomADe_AF=0.863936;CSQ_gnomADe_Hom=92285;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MST1:P153P;CSQ_CADD_PHRED=8.560 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,122:127:0.96063:65:-100:0.1477:17,55,5,23,14,8,17,57,5,23,15,10:100:100 +3 49924940 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=MST1R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_001244937.3;CSQ_HGVSc=NM_001244937.3:c.3856A>G;CSQ_HGVSp=NP_001231866.1:p.Arg1286Gly;CSQ_HGVSg=3:g.49924940T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15900;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.51503;CSQ_gnomADe_AC=100373;CSQ_gnomADe_AN=245924;CSQ_gnomADe_AF=0.408146;CSQ_gnomADe_Hom=23028;CSQ_COSMICcMuts=COSV56566222&COSV56566222;CSQ_COSMICncMuts=COSV56566222&COSV56566222&COSV56566222&COSV56566222;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.111;CSQ_Mastermind_MMID3=MST1R:R1229G&MST1R:R1286G&MST1R:R1335G;CSQ_CADD_PHRED=0.981 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,68:127:0.53543:65:-100:0.1056:8,23,7,12,6,12,15,42,9,27,13,21:100:100 +3 49924940 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=MST1R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_002447.4;CSQ_HGVSc=NM_002447.4:c.4003A>G;CSQ_HGVSp=NP_002438.2:p.Arg1335Gly;CSQ_HGVSg=3:g.49924940T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15900;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.51503;CSQ_gnomADe_AC=100373;CSQ_gnomADe_AN=245924;CSQ_gnomADe_AF=0.408146;CSQ_gnomADe_Hom=23028;CSQ_COSMICcMuts=COSV56566222&COSV56566222;CSQ_COSMICncMuts=COSV56566222&COSV56566222&COSV56566222&COSV56566222;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.111;CSQ_Mastermind_MMID3=MST1R:R1229G&MST1R:R1286G&MST1R:R1335G;CSQ_CADD_PHRED=0.981 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,68:127:0.53543:65:-100:0.1056:8,23,7,12,6,12,15,42,9,27,13,21:100:100 +3 49928691 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=MST1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/19;CSQ_INTRON=.;CSQ_Feature=NM_001244937.3;CSQ_HGVSc=NM_001244937.3:c.3436A>G;CSQ_HGVSp=NP_001231866.1:p.Gly1146%3D;CSQ_HGVSg=3:g.49928691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30965;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.999968;CSQ_gnomADe_AC=246152;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.999992;CSQ_gnomADe_Hom=123075;CSQ_COSMICcMuts=COSV56564120&COSV56564120;CSQ_COSMICncMuts=COSV56564120&COSV56564120&COSV56564120;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.04;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,138:138:1:65:-100:0.1375:17,47,10,21,12,31,17,47,10,21,12,31:100:100 +3 49928691 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=MST1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/20;CSQ_INTRON=.;CSQ_Feature=NM_002447.4;CSQ_HGVSc=NM_002447.4:c.3583A>G;CSQ_HGVSp=NP_002438.2:p.Gly1195%3D;CSQ_HGVSg=3:g.49928691T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30965;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.999968;CSQ_gnomADe_AC=246152;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.999992;CSQ_gnomADe_Hom=123075;CSQ_COSMICcMuts=COSV56564120&COSV56564120;CSQ_COSMICncMuts=COSV56564120&COSV56564120&COSV56564120;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.04;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,138:138:1:65:-100:0.1375:17,47,10,21,12,31,17,47,10,21,12,31:100:100 +3 49936102 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=MST1R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/19;CSQ_INTRON=.;CSQ_Feature=NM_001244937.3;CSQ_HGVSc=NM_001244937.3:c.1568A>G;CSQ_HGVSp=NP_001231866.1:p.Gln523Arg;CSQ_HGVSg=3:g.49936102T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1237612;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15863;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.513366;CSQ_gnomADe_AC=100154;CSQ_gnomADe_AN=245882;CSQ_gnomADe_AF=0.407325;CSQ_gnomADe_Hom=22901;CSQ_COSMICcMuts=COSV56566654&COSV56566654;CSQ_COSMICncMuts=COSV56566654&COSV56566654&COSV56566654&COSV56566654&COSV56566654&COSV56566654;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.026;CSQ_Mastermind_MMID3=MST1R:Q417R&MST1R:Q523R;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,89:156:0.57051:65:-100:0.1658:10,29,10,16,8,16,16,51,21,31,10,27:100:100 +3 49936102 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=MST1R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/20;CSQ_INTRON=.;CSQ_Feature=NM_002447.4;CSQ_HGVSc=NM_002447.4:c.1568A>G;CSQ_HGVSp=NP_002438.2:p.Gln523Arg;CSQ_HGVSg=3:g.49936102T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1237612;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15863;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.513366;CSQ_gnomADe_AC=100154;CSQ_gnomADe_AN=245882;CSQ_gnomADe_AF=0.407325;CSQ_gnomADe_Hom=22901;CSQ_COSMICcMuts=COSV56566654&COSV56566654;CSQ_COSMICncMuts=COSV56566654&COSV56566654&COSV56566654&COSV56566654&COSV56566654&COSV56566654;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.026;CSQ_Mastermind_MMID3=MST1R:Q417R&MST1R:Q523R;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,89:156:0.57051:65:-100:0.1658:10,29,10,16,8,16,16,51,21,31,10,27:100:100 +3 52437223 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=BAP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/17;CSQ_INTRON=.;CSQ_Feature=NM_004656.4;CSQ_HGVSc=NM_004656.4:c.1821G>A;CSQ_HGVSp=NP_004647.1:p.Thr607%3D;CSQ_HGVSg=3:g.52437223C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=472680;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=BAP1-related_tumor_predisposition_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=3.22977e-05;CSQ_gnomADe_AC=8;CSQ_gnomADe_AN=246218;CSQ_gnomADe_AF=3.24915e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56231198&COSV56231198;CSQ_COSMICncMuts=COSV56231198&COSV56231198&COSV56231198&COSV56231198&COSV56231198&COSV56231198&COSV56231198&COSV56231198&COSV56231198;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BAP1:T607T;CSQ_CADD_PHRED=1.301 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,19:161:0.11801:65:-100:0.0904:3,5,2,2,3,4,28,53,15,22,12,31:100:100 +3 52437597 . G T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=BAP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/17;CSQ_INTRON=.;CSQ_Feature=NM_004656.4;CSQ_HGVSc=NM_004656.4:c.1564C>A;CSQ_HGVSp=NP_004647.1:p.Pro522Thr;CSQ_HGVSg=3:g.52437597G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56231207&COSV56231207;CSQ_COSMICncMuts=COSV56231207&COSV56231207&COSV56231207&COSV56231207&COSV56231207&COSV56231207&COSV56231207&COSV56231207&COSV56231207&COSV56231207;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.07;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.302;CSQ_Mastermind_MMID3=BAP1:P522T;CSQ_CADD_PHRED=27.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,39:163:0.23926:65:-100:0.1768:7,10,1,9,3,9,29,54,6,31,16,27:100:100 +3 52437748 . A C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=BAP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/17;CSQ_INTRON=.;CSQ_Feature=NM_004656.4;CSQ_HGVSc=NM_004656.4:c.1413T>G;CSQ_HGVSp=NP_004647.1:p.Ala471%3D;CSQ_HGVSg=3:g.52437748A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=346118;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=BAP1-related_tumor_predisposition_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified;CSQ_gnomADg_AC=533;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0172425;CSQ_gnomADe_AC=1194;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.0048507;CSQ_gnomADe_Hom=36;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BAP1:A471A;CSQ_CADD_PHRED=9.790 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,23:167:0.13772:65:-100:0.1436:3,9,1,4,2,4,21,55,13,38,11,29:100:100 +3 52584787 . T C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=PBRM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=28/30;CSQ_INTRON=.;CSQ_Feature=NM_018313.5;CSQ_HGVSc=NM_018313.5:c.4335A>G;CSQ_HGVSp=NP_060783.3:p.Pro1445%3D;CSQ_HGVSg=3:g.52584787T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10555;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.341453;CSQ_gnomADe_AC=96139;CSQ_gnomADe_AN=245512;CSQ_gnomADe_AF=0.391586;CSQ_gnomADe_Hom=20057;CSQ_COSMICcMuts=COSV56259388&COSV56259388&COSV56259388&COSV56259388&COSV56259388&COSV56259388&COSV56259388&COSV56259388&COSV56259388;CSQ_COSMICncMuts=COSV56259388&COSV56259388;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PBRM1:P1441P&PBRM1:P1445P&PBRM1:P1446P&PBRM1:P1456P&PBRM1:P1462P&PBRM1:P1463P&PBRM1:P1466P&PBRM1:P1478P&PBRM1:P1480P&PBRM1:P1481P&PBRM1:P1497P&PBRM1:P1521P;CSQ_CADD_PHRED=11.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,39:129:0.30233:65:-100:0.1342:8,10,3,7,2,9,21,41,13,20,8,26:100:100 +3 52610651 . T A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=PBRM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_018313.5;CSQ_HGVSc=NM_018313.5:c.3522A>T;CSQ_HGVSp=NP_060783.3:p.Pro1174%3D;CSQ_HGVSg=3:g.52610651T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10461;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.338259;CSQ_gnomADe_AC=93088;CSQ_gnomADe_AN=242596;CSQ_gnomADe_AF=0.383716;CSQ_gnomADe_Hom=19207;CSQ_COSMICcMuts=COSV56259420&COSV56259420&COSV56259420&COSV56259420&COSV56259420&COSV56259420&COSV56259420&COSV56259420&COSV56259420;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PBRM1:P1174P&PBRM1:P1195P&PBRM1:P1199P&PBRM1:P1200P&PBRM1:P1210P&PBRM1:P1216P&PBRM1:P1217P&PBRM1:P1220P&PBRM1:P1232P&PBRM1:P1234P&PBRM1:P1235P;CSQ_CADD_PHRED=11.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,33:110:0.3:65:-100:0.1406:5,11,5,4,2,6,12,39,13,20,8,18:100:100 +3 52620592 . GG TA 100 PASS DP=113;CSQ_Allele=TA;CSQ_SYMBOL=PBRM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/30;CSQ_INTRON=.;CSQ_Feature=NM_018313.5;CSQ_HGVSc=NM_018313.5:c.3160_3161delinsTA;CSQ_HGVSp=NP_060783.3:p.Pro1054Tyr;CSQ_HGVSg=3:g.52620592_52620593delinsTA;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,13:113:0.11504:65:-100:0:0,6,1,4,0,2,26,78,24,60,12,26:100:100 +3 52643685 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=PBRM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/30;CSQ_INTRON=.;CSQ_Feature=NM_018313.5;CSQ_HGVSc=NM_018313.5:c.2211A>G;CSQ_HGVSp=NP_060783.3:p.Thr737%3D;CSQ_HGVSg=3:g.52643685T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10570;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.341784;CSQ_gnomADe_AC=96053;CSQ_gnomADe_AN=245472;CSQ_gnomADe_AF=0.391299;CSQ_gnomADe_Hom=20032;CSQ_COSMICcMuts=COSV56259469&COSV56259469&COSV56259469&COSV56259469&COSV56259469&COSV56259469&COSV56259469&COSV56259469;CSQ_COSMICncMuts=COSV56259469;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PBRM1:T737T&PBRM1:T738T&PBRM1:T754T&PBRM1:T755T&PBRM1:T758T&PBRM1:T770T&PBRM1:T773T;CSQ_CADD_PHRED=10.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,46:141:0.32624:65:-100:0.1296:7,15,4,12,2,6,22,54,11,27,7,20:100:100 +3 52668638 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=PBRM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/30;CSQ_INTRON=.;CSQ_Feature=NM_018313.5;CSQ_HGVSc=NM_018313.5:c.1281C>T;CSQ_HGVSp=NP_060783.3:p.Pro427%3D;CSQ_HGVSg=3:g.52668638G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3404;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.110183;CSQ_gnomADe_AC=10144;CSQ_gnomADe_AN=245708;CSQ_gnomADe_AF=0.0412848;CSQ_gnomADe_Hom=1037;CSQ_COSMICcMuts=COSV56266938&COSV56266938&COSV56266938&COSV56266938&COSV56266938&COSV56266938&COSV56266938&COSV56266938;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PBRM1:P413P&PBRM1:P427P&PBRM1:P444P&PBRM1:P445P&PBRM1:P448P;CSQ_CADD_PHRED=9.949 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,37:112:0.33036:65:-100:0.1515:6,12,3,8,3,5,21,32,7,19,19,14:100:100 +3 52668776 . A G 100 PASS DP=118;CSQ_Allele=G;CSQ_SYMBOL=PBRM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/30;CSQ_INTRON=.;CSQ_Feature=NM_018313.5;CSQ_HGVSc=NM_018313.5:c.1143T>C;CSQ_HGVSp=NP_060783.3:p.Asp381%3D;CSQ_HGVSg=3:g.52668776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2173;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0701692;CSQ_gnomADe_AC=7550;CSQ_gnomADe_AN=245736;CSQ_gnomADe_AF=0.030724;CSQ_gnomADe_Hom=422;CSQ_COSMICcMuts=COSV56267203&COSV56267203&COSV56267203&COSV56267203&COSV56267203&COSV56267203&COSV56267203&COSV56267203;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PBRM1:D367D&PBRM1:D381D&PBRM1:D398D&PBRM1:D399D&PBRM1:D402D;CSQ_CADD_PHRED=11.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,25:118:0.21186:65:-100:0.1571:4,6,3,7,1,4,17,42,10,24,9,16:100:100 +3 70014447 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=MITF;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_000248.4;CSQ_HGVSc=NM_000248.4:c.*48T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.70014447T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=346504;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tietz_syndrome&Waardenburg_syndrome_type_2A¬_provided;CSQ_gnomADg_AC=3555;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.114855;CSQ_gnomADe_AC=21082;CSQ_gnomADe_AN=240532;CSQ_gnomADe_AF=0.0876474;CSQ_gnomADe_Hom=1130;CSQ_COSMICcMuts=COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887;CSQ_COSMICncMuts=COSV58830887;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MITF:3UTR;CSQ_CADD_PHRED=1.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,34:108:0.31481:65:-100:0.129:2,8,4,12,4,4,18,27,14,27,10,12:100:100 +3 70014447 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=MITF;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_006722.3;CSQ_HGVSc=NM_006722.3:c.*48T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.70014447T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=346504;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tietz_syndrome&Waardenburg_syndrome_type_2A¬_provided;CSQ_gnomADg_AC=3555;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.114855;CSQ_gnomADe_AC=21082;CSQ_gnomADe_AN=240532;CSQ_gnomADe_AF=0.0876474;CSQ_gnomADe_Hom=1130;CSQ_COSMICcMuts=COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887;CSQ_COSMICncMuts=COSV58830887;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MITF:3UTR;CSQ_CADD_PHRED=1.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,34:108:0.31481:65:-100:0.129:2,8,4,12,4,4,18,27,14,27,10,12:100:100 +3 70014447 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=MITF;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_198159.3;CSQ_HGVSc=NM_198159.3:c.*48T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.70014447T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=346504;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tietz_syndrome&Waardenburg_syndrome_type_2A¬_provided;CSQ_gnomADg_AC=3555;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.114855;CSQ_gnomADe_AC=21082;CSQ_gnomADe_AN=240532;CSQ_gnomADe_AF=0.0876474;CSQ_gnomADe_Hom=1130;CSQ_COSMICcMuts=COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887;CSQ_COSMICncMuts=COSV58830887;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MITF:3UTR;CSQ_CADD_PHRED=1.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,34:108:0.31481:65:-100:0.129:2,8,4,12,4,4,18,27,14,27,10,12:100:100 +3 70014447 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=MITF;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_198177.3;CSQ_HGVSc=NM_198177.3:c.*48T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.70014447T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=346504;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tietz_syndrome&Waardenburg_syndrome_type_2A¬_provided;CSQ_gnomADg_AC=3555;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.114855;CSQ_gnomADe_AC=21082;CSQ_gnomADe_AN=240532;CSQ_gnomADe_AF=0.0876474;CSQ_gnomADe_Hom=1130;CSQ_COSMICcMuts=COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887&COSV58830887;CSQ_COSMICncMuts=COSV58830887;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MITF:3UTR;CSQ_CADD_PHRED=1.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,34:108:0.31481:65:-100:0.129:2,8,4,12,4,4,18,27,14,27,10,12:100:100 +3 72799703 . C T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=SHQ1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_018130.3;CSQ_HGVSc=NM_018130.3:c.1466G>A;CSQ_HGVSp=NP_060600.2:p.Ser489Asn;CSQ_HGVSg=3:g.72799703C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11000;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.355803;CSQ_gnomADe_AC=58129;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.236089;CSQ_gnomADe_Hom=8920;CSQ_COSMICcMuts=COSV57765286&COSV57765286;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.053;CSQ_Mastermind_MMID3=SHQ1:S489N;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,92:180:0.51111:65:-100:0.1045:18,29,5,18,11,11,28,55,14,37,20,26:100:100 +3 89391023 . TA T 100 PASS DP=111;CSQ_Allele=-;CSQ_SYMBOL=EPHA3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/17;CSQ_INTRON=.;CSQ_Feature=NM_005233.6;CSQ_HGVSc=NM_005233.6:c.1095del;CSQ_HGVSp=NP_005224.2:p.Lys365AsnfsTer6;CSQ_HGVSg=3:g.89391029del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60722723&COSV60722723&COSV60722723;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,12:111:0.10811:65:-100:0:1,2,3,2,2,2,18,31,7,23,8,24:100:100 +3 89391023 . TA T 100 PASS DP=111;CSQ_Allele=-;CSQ_SYMBOL=EPHA3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_182644.3;CSQ_HGVSc=NM_182644.3:c.1095del;CSQ_HGVSp=NP_872585.1:p.Lys365AsnfsTer6;CSQ_HGVSg=3:g.89391029del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60722723&COSV60722723&COSV60722723;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,12:111:0.10811:65:-100:0:1,2,3,2,2,2,18,31,7,23,8,24:100:100 +3 89498428 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=EPHA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/17;CSQ_INTRON=.;CSQ_Feature=NM_005233.6;CSQ_HGVSc=NM_005233.6:c.2400G>A;CSQ_HGVSp=NP_005224.2:p.Lys800%3D;CSQ_HGVSg=3:g.89498428G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3016;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.0975925;CSQ_gnomADe_AC=16114;CSQ_gnomADe_AN=245682;CSQ_gnomADe_AF=0.0655889;CSQ_gnomADe_Hom=803;CSQ_COSMICcMuts=COSV60692555&COSV60692555;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA3:K800K;CSQ_CADD_PHRED=10.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,9:131:0.0687:65:-100:0.0709:3,5,1,0,0,0,26,47,11,18,7,22:76.027:100 +3 89521664 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=EPHA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/17;CSQ_INTRON=.;CSQ_Feature=NM_005233.6;CSQ_HGVSc=NM_005233.6:c.2741G>A;CSQ_HGVSp=NP_005224.2:p.Arg914His;CSQ_HGVSg=3:g.89521664G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2117;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.068436;CSQ_gnomADe_AC=18737;CSQ_gnomADe_AN=245950;CSQ_gnomADe_AF=0.0761822;CSQ_gnomADe_Hom=855;CSQ_COSMICcMuts=COSV60697068&COSV60697068;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.159;CSQ_Mastermind_MMID3=EPHA3:R914H;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,11:126:0.0873:65:-100:0.1064:1,6,2,1,0,1,21,45,8,22,12,18:100:100 +3 89521693 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=EPHA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/17;CSQ_INTRON=.;CSQ_Feature=NM_005233.6;CSQ_HGVSc=NM_005233.6:c.2770T>C;CSQ_HGVSp=NP_005224.2:p.Trp924Arg;CSQ_HGVSg=3:g.89521693T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14233;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.461212;CSQ_gnomADe_AC=91135;CSQ_gnomADe_AN=245876;CSQ_gnomADe_AF=0.370654;CSQ_gnomADe_Hom=18372;CSQ_COSMICcMuts=COSV60708046&COSV60708046;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.295;CSQ_Mastermind_MMID3=EPHA3:W924R;CSQ_CADD_PHRED=21.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,63:128:0.49219:65:-100:0.1172:11,22,2,12,10,6,22,40,7,22,18,19:100:100 +3 89521725 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=EPHA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/17;CSQ_INTRON=.;CSQ_Feature=NM_005233.6;CSQ_HGVSc=NM_005233.6:c.2802T>C;CSQ_HGVSp=NP_005224.2:p.Gly934%3D;CSQ_HGVSg=3:g.89521725T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6502;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.21023;CSQ_gnomADe_AC=50430;CSQ_gnomADe_AN=245506;CSQ_gnomADe_AF=0.205412;CSQ_gnomADe_Hom=6179;CSQ_COSMICcMuts=COSV60692568&COSV60692568;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA3:G934G;CSQ_CADD_PHRED=10.71 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,14:125:0.112:65:-100:0.1379:2,2,4,2,0,4,19,41,10,19,16,20:100:100 +3 128204841 . AC A 100 PASS DP=176;CSQ_Allele=-;CSQ_SYMBOL=GATA2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_001145662.1;CSQ_HGVSc=NM_001145662.1:c.599del;CSQ_HGVSp=NP_001139134.1:p.Gly200ValfsTer18;CSQ_HGVSg=3:g.128204847del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=800690;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Deafness-lymphedema-leukemia_syndrome&Monocytopenia_with_susceptibility_to_infections&GATA2_deficiency_with_susceptibility_to_MDS/AML¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62003348&COSV62003348&COSV62003348;CSQ_COSMICncMuts=COSV62003348&COSV62003348&COSV62003348&COSV62003348&COSV62003348&COSV62003348;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,7:176:0.03977:65:-100:0:2,1,0,1,1,2,28,49,22,30,17,30:64.628:100 +3 128204841 . AC A 100 PASS DP=176;CSQ_Allele=-;CSQ_SYMBOL=GATA2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_032638.5;CSQ_HGVSc=NM_032638.5:c.599del;CSQ_HGVSp=NP_116027.2:p.Gly200ValfsTer18;CSQ_HGVSg=3:g.128204847del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=800690;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Deafness-lymphedema-leukemia_syndrome&Monocytopenia_with_susceptibility_to_infections&GATA2_deficiency_with_susceptibility_to_MDS/AML¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62003348&COSV62003348&COSV62003348;CSQ_COSMICncMuts=COSV62003348&COSV62003348&COSV62003348&COSV62003348&COSV62003348&COSV62003348;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,7:176:0.03977:65:-100:0:2,1,0,1,1,2,28,49,22,30,17,30:64.628:100 +3 128204951 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=GATA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_001145662.1;CSQ_HGVSc=NM_001145662.1:c.490G>A;CSQ_HGVSp=NP_001139134.1:p.Ala164Thr;CSQ_HGVSg=3:g.128204951C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134467;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Deafness-lymphedema-leukemia_syndrome&Monocytopenia_with_susceptibility_to_infections¬_specified¬_provided;CSQ_gnomADg_AC=5552;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.180049;CSQ_gnomADe_AC=47551;CSQ_gnomADe_AN=240958;CSQ_gnomADe_AF=0.197341;CSQ_gnomADe_Hom=5240;CSQ_COSMICcMuts=COSV62003051&COSV62003051&COSV62003051;CSQ_COSMICncMuts=COSV62003051&COSV62003051&COSV62003051&COSV62003051&COSV62003051&COSV62003051;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.329;CSQ_Mastermind_MMID3=GATA2:A164T;CSQ_CADD_PHRED=17.34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,12:111:0.10811:65:-100:0.3432:2,4,0,3,0,3,15,33,10,20,14,19:100:100 +3 128204951 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=GATA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_032638.5;CSQ_HGVSc=NM_032638.5:c.490G>A;CSQ_HGVSp=NP_116027.2:p.Ala164Thr;CSQ_HGVSg=3:g.128204951C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134467;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Deafness-lymphedema-leukemia_syndrome&Monocytopenia_with_susceptibility_to_infections¬_specified¬_provided;CSQ_gnomADg_AC=5552;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.180049;CSQ_gnomADe_AC=47551;CSQ_gnomADe_AN=240958;CSQ_gnomADe_AF=0.197341;CSQ_gnomADe_Hom=5240;CSQ_COSMICcMuts=COSV62003051&COSV62003051&COSV62003051;CSQ_COSMICncMuts=COSV62003051&COSV62003051&COSV62003051&COSV62003051&COSV62003051&COSV62003051;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.329;CSQ_Mastermind_MMID3=GATA2:A164T;CSQ_CADD_PHRED=17.34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,12:111:0.10811:65:-100:0.3432:2,4,0,3,0,3,15,33,10,20,14,19:100:100 +3 128205860 . G C 100 PASS DP=32;CSQ_Allele=C;CSQ_SYMBOL=GATA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_001145662.1;CSQ_HGVSc=NM_001145662.1:c.15C>G;CSQ_HGVSp=NP_001139134.1:p.Pro5%3D;CSQ_HGVSg=3:g.128205860G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257563;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Deafness-lymphedema-leukemia_syndrome&Monocytopenia_with_susceptibility_to_infections¬_specified¬_provided;CSQ_gnomADg_AC=20136;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.653215;CSQ_gnomADe_AC=134408;CSQ_gnomADe_AN=202484;CSQ_gnomADe_AF=0.663796;CSQ_gnomADe_Hom=44784;CSQ_COSMICcMuts=COSV62003056&COSV62003056&COSV62003056;CSQ_COSMICncMuts=COSV62003056&COSV62003056&COSV62003056&COSV62003056;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GATA2:P5P;CSQ_CADD_PHRED=12.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,17:32:0.53125:65:-100:0.2:4,3,6,2,0,2,7,9,7,5,2,2:100:100 +3 128205860 . G C 100 PASS DP=32;CSQ_Allele=C;CSQ_SYMBOL=GATA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_032638.5;CSQ_HGVSc=NM_032638.5:c.15C>G;CSQ_HGVSp=NP_116027.2:p.Pro5%3D;CSQ_HGVSg=3:g.128205860G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257563;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Deafness-lymphedema-leukemia_syndrome&Monocytopenia_with_susceptibility_to_infections¬_specified¬_provided;CSQ_gnomADg_AC=20136;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.653215;CSQ_gnomADe_AC=134408;CSQ_gnomADe_AN=202484;CSQ_gnomADe_AF=0.663796;CSQ_gnomADe_Hom=44784;CSQ_COSMICcMuts=COSV62003056&COSV62003056&COSV62003056;CSQ_COSMICncMuts=COSV62003056&COSV62003056&COSV62003056&COSV62003056;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GATA2:P5P;CSQ_CADD_PHRED=12.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,17:32:0.53125:65:-100:0.2:4,3,6,2,0,2,7,9,7,5,2,2:100:100 +3 134670524 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=EPHB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/16;CSQ_INTRON=.;CSQ_Feature=NM_004441.5;CSQ_HGVSc=NM_004441.5:c.435C>T;CSQ_HGVSp=NP_004432.1:p.Ser145%3D;CSQ_HGVSg=3:g.134670524C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14456;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.468651;CSQ_gnomADe_AC=112946;CSQ_gnomADe_AN=246118;CSQ_gnomADe_AF=0.45891;CSQ_gnomADe_Hom=27050;CSQ_COSMICcMuts=COSV67660842;CSQ_COSMICncMuts=COSV67660842&COSV67660842&COSV67660842;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHB1:S145S;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,46:149:0.30872:65:-100:0.1676:12,9,5,9,4,7,26,42,12,25,12,32:100:100 +3 134851718 . A G 100 PASS DP=178;CSQ_Allele=G;CSQ_SYMBOL=EPHB1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/16;CSQ_INTRON=.;CSQ_Feature=NM_004441.5;CSQ_HGVSc=NM_004441.5:c.1124A>G;CSQ_HGVSp=NP_004432.1:p.Asp375Gly;CSQ_HGVSg=3:g.134851718A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67655008&COSV67655008;CSQ_COSMICncMuts=COSV67655008&COSV67655008;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.411;CSQ_Mastermind_MMID3=EPHB1:D375G;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,22:178:0.1236:65:-100:0.1317:3,6,2,3,3,5,24,64,15,27,15,33:100:100 +3 134851802 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=EPHB1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/16;CSQ_INTRON=.;CSQ_Feature=NM_004441.5;CSQ_HGVSc=NM_004441.5:c.1208C>T;CSQ_HGVSp=NP_004432.1:p.Thr403Ile;CSQ_HGVSg=3:g.134851802C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.000355068;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=245182;CSQ_gnomADe_AF=8.97293e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.345;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,18:175:0.10286:65:-100:0.1505:1,6,1,4,1,5,31,61,13,27,12,31:100:100 +3 134898742 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=EPHB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/16;CSQ_INTRON=.;CSQ_Feature=NM_004441.5;CSQ_HGVSc=NM_004441.5:c.1800C>T;CSQ_HGVSp=NP_004432.1:p.Tyr600%3D;CSQ_HGVSg=3:g.134898742C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13461;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.435772;CSQ_gnomADe_AC=109670;CSQ_gnomADe_AN=246170;CSQ_gnomADe_AF=0.445505;CSQ_gnomADe_Hom=26031;CSQ_COSMICcMuts=COSV67654940&COSV67654940;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHB1:Y600Y;CSQ_CADD_PHRED=7.325 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,83:135:0.61481:65:-100:0.1768:13,27,11,18,8,6,20,45,14,29,14,13:100:100 +3 136062724 . C G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=STAG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=30/34;CSQ_INTRON=.;CSQ_Feature=NM_005862.3;CSQ_HGVSc=NM_005862.3:c.3396G>C;CSQ_HGVSp=NP_005853.2:p.Gln1132His;CSQ_HGVSg=3:g.136062724C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1650467;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2456;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0793077;CSQ_gnomADe_AC=5004;CSQ_gnomADe_AN=233880;CSQ_gnomADe_AF=0.0213956;CSQ_gnomADe_Hom=666;CSQ_COSMICcMuts=COSV52602746&COSV52602746&COSV52602746&COSV52602746;CSQ_COSMICncMuts=COSV52602746;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=0.044;CSQ_Mastermind_MMID3=STAG1:Q1132H;CSQ_CADD_PHRED=17.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,10:121:0.08264:65:-100:0.1295:1,4,0,3,0,2,17,40,11,19,13,21:100:100 +3 136088038 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=STAG1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/34;CSQ_INTRON=.;CSQ_Feature=NM_005862.3;CSQ_HGVSc=NM_005862.3:c.2457C>T;CSQ_HGVSp=NP_005853.2:p.Phe819%3D;CSQ_HGVSg=3:g.136088038G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1239490;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Intellectual_disability&_autosomal_dominant_47¬_provided;CSQ_gnomADg_AC=11277;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.36507;CSQ_gnomADe_AC=70578;CSQ_gnomADe_AN=237612;CSQ_gnomADe_AF=0.29703;CSQ_gnomADe_Hom=11957;CSQ_COSMICcMuts=COSV52600425&COSV52600425&COSV52600425&COSV52600425;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=STAG1:F819F;CSQ_CADD_PHRED=10.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,54:137:0.39416:65:-100:0.1595:11,16,3,7,3,14,23,43,7,31,6,27:100:100 +3 136183753 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=STAG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/34;CSQ_INTRON=.;CSQ_Feature=NM_005862.3;CSQ_HGVSc=NM_005862.3:c.1283C>T;CSQ_HGVSp=NP_005853.2:p.Ala428Val;CSQ_HGVSg=3:g.136183753G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52602826&COSV52602826&COSV52602826&COSV52602826;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=0.541;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=29.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,16:165:0.09697:65:-100:0.1361:2,3,4,3,2,2,36,48,19,24,10,28:100:100 +3 136323328 . TA T 100 PASS DP=137;CSQ_Allele=-;CSQ_SYMBOL=STAG1;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=3/33;CSQ_Feature=NM_005862.3;CSQ_HGVSc=NM_005862.3:c.133-14del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.136323335del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=217860;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52606177&COSV52606177&COSV52606177&COSV52606177;CSQ_COSMICncMuts=COSV52606177&COSV52606177;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.651 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,12:137:0.08759:65:-100:0:3,2,0,4,1,2,25,45,17,24,8,18:100:100 +3 138411214 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=PIK3CB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/12;CSQ_Feature=NM_001256045.2;CSQ_HGVSc=NM_001256045.2:c.429-1229T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.138411214A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16280;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.526146;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CB:S143int&PIK3CB:S143inta&PIK3CB:S631int&PIK3CB:S631inta;CSQ_CADD_PHRED=1.822 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,67:132:0.50758:65:-100:0.1801:14,26,5,9,7,6,25,49,14,14,12,18:100:100 +3 138411214 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=PIK3CB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/23;CSQ_Feature=NM_006219.3;CSQ_HGVSc=NM_006219.3:c.1893-1229T>C;CSQ_HGVSp=.;CSQ_HGVSg=3:g.138411214A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16280;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.526146;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CB:S143int&PIK3CB:S143inta&PIK3CB:S631int&PIK3CB:S631inta;CSQ_CADD_PHRED=1.822 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,67:132:0.50758:65:-100:0.1801:14,26,5,9,7,6,25,49,14,14,12,18:100:100 +3 138420084 . CA C 100 PASS DP=97;CSQ_Allele=-;CSQ_SYMBOL=PIK3CB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_001256045.2;CSQ_HGVSc=NM_001256045.2:c.118-2148del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.138420091del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,13:97:0.13402:65:-100:0:0,2,2,2,4,3,11,32,11,15,15,13:100:100 +3 138420084 . CA C 100 PASS DP=97;CSQ_Allele=-;CSQ_SYMBOL=PIK3CB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/23;CSQ_Feature=NM_006219.3;CSQ_HGVSc=NM_006219.3:c.1582-2148del;CSQ_HGVSp=.;CSQ_HGVSg=3:g.138420091del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,13:97:0.13402:65:-100:0:0,2,2,2,4,3,11,32,11,15,15,13:100:100 +3 138426428 . T C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=PIK3CB;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001256045.2;CSQ_HGVSc=NM_001256045.2:c.-311A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.138426428T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.596124;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.602 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,61:100:0.61:65:-100:0.1525:13,18,5,10,5,10,24,29,7,15,8,17:100:100 +3 138426428 . T C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=PIK3CB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/23;CSQ_Feature=NM_006219.3;CSQ_HGVSc=NM_006219.3:c.1400-297A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.138426428T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.596124;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CB:5UTR&PIK3CB:D467int&PIK3CB:D467inta;CSQ_CADD_PHRED=0.602 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,61:100:0.61:65:-100:0.1525:13,18,5,10,5,10,24,29,7,15,8,17:100:100 +3 138456726 . G A 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=PIK3CB;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/24;CSQ_INTRON=.;CSQ_Feature=NM_006219.3;CSQ_HGVSc=NM_006219.3:c.624C>T;CSQ_HGVSp=NP_006210.1:p.Asp208%3D;CSQ_HGVSg=3:g.138456726G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1180;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0382496;CSQ_gnomADe_AC=2204;CSQ_gnomADe_AN=229432;CSQ_gnomADe_AF=0.00960633;CSQ_gnomADe_Hom=157;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.169 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,10:89:0.11236:65:-100:0.101:2,2,3,1,0,2,14,26,6,16,5,22:100:100 +3 138665064 . G A 100 PASS DP=13;CSQ_Allele=A;CSQ_SYMBOL=FOXL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_023067.4;CSQ_HGVSc=NM_023067.4:c.501C>T;CSQ_HGVSp=NP_075555.1:p.Phe167%3D;CSQ_HGVSg=3:g.138665064G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=261661;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Blepharophimosis&_ptosis&_and_epicanthus_inversus_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3423;CSQ_gnomADg_AN=30626;CSQ_gnomADg_AF=0.111768;CSQ_gnomADe_AC=6710;CSQ_gnomADe_AN=133024;CSQ_gnomADe_AF=0.050442;CSQ_gnomADe_Hom=490;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FOXL2:F167F;CSQ_CADD_PHRED=14.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,4:13:0.30769:65:-60.2288:0.0714:1,2,1,0,0,0,5,5,2,0,0,1:74.557:100 +3 142168331 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=ATR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=47/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.7875G>A;CSQ_HGVSp=NP_001175.2:p.Gln2625%3D;CSQ_HGVSg=3:g.142168331C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=93669;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=27471;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.887995;CSQ_gnomADe_AC=211108;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.85741;CSQ_gnomADe_Hom=91046;CSQ_COSMICcMuts=COSV99377126&COSV99377126;CSQ_COSMICncMuts=COSV99377126&COSV99377126&COSV99377126&COSV99377126&COSV99377126&COSV99377126&COSV99377126&COSV99377126&COSV99377126;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATR:Q2561Q&ATR:Q2625Q;CSQ_CADD_PHRED=8.298 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,121:121:1:65:-100:0.097:16,46,16,17,9,17,16,46,16,17,9,17:100:100 +3 142178144 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ATR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=43/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.7274G>A;CSQ_HGVSp=NP_001175.2:p.Arg2425Gln;CSQ_HGVSg=3:g.142178144C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=136470;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=4116;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.133161;CSQ_gnomADe_AC=32217;CSQ_gnomADe_AN=246014;CSQ_gnomADe_AF=0.130956;CSQ_gnomADe_Hom=2351;CSQ_COSMICcMuts=COSV63383988&COSV63383988;CSQ_COSMICncMuts=COSV63383988&COSV63383988&COSV63383988;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=0.168;CSQ_Mastermind_MMID3=ATR:R2361Q&ATR:R2425Q;CSQ_CADD_PHRED=7.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,22:141:0.15603:65:-100:0.1076:8,8,3,1,0,2,28,61,5,20,7,20:100:100 +3 142215233 . G A 100 PASS DP=99;CSQ_Allele=A;CSQ_SYMBOL=ATR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=34/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.5868C>T;CSQ_HGVSp=NP_001175.2:p.Tyr1956%3D;CSQ_HGVSg=3:g.142215233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=157996;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=198;CSQ_gnomADg_AN=26342;CSQ_gnomADg_AF=0.00751651;CSQ_gnomADe_AC=2208;CSQ_gnomADe_AN=241336;CSQ_gnomADe_AF=0.00914907;CSQ_gnomADe_Hom=75;CSQ_COSMICcMuts=COSV63385644&COSV63385644;CSQ_COSMICncMuts=COSV63385644;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATR:Y1892Y&ATR:Y1956Y;CSQ_CADD_PHRED=7.923 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,9:99:0.09091:65:-51.3827:0.1239:1,1,2,4,0,1,16,21,14,23,12,13:100:100 +3 142217537 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=ATR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=32/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.5460T>C;CSQ_HGVSp=NP_001175.2:p.Tyr1820%3D;CSQ_HGVSg=3:g.142217537A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=136471;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=2521;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0814487;CSQ_gnomADe_AC=22781;CSQ_gnomADe_AN=245766;CSQ_gnomADe_AF=0.0926939;CSQ_gnomADe_Hom=1358;CSQ_COSMICcMuts=COSV100637634&COSV100637634;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATR:Y1756Y&ATR:Y1820Y;CSQ_CADD_PHRED=10.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,8:122:0.06557:65:-100:0.1348:0,3,1,3,1,0,14,47,16,22,10,13:99.979:100 +3 142222284 . A G 100 PASS DP=102;CSQ_Allele=G;CSQ_SYMBOL=ATR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=30/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.5208T>C;CSQ_HGVSp=NP_001175.2:p.Tyr1736%3D;CSQ_HGVSg=3:g.142222284A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=157992;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=10539;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.34098;CSQ_gnomADe_AC=87904;CSQ_gnomADe_AN=244036;CSQ_gnomADe_AF=0.360209;CSQ_gnomADe_Hom=16514;CSQ_COSMICcMuts=COSV63386201&COSV63386201;CSQ_COSMICncMuts=COSV63386201&COSV63386201;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATR:Y1672Y&ATR:Y1736Y;CSQ_CADD_PHRED=8.056 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,41:102:0.40196:65:-100:0.113:12,11,0,1,5,12,20,29,4,12,12,25:100:100 +3 142268372 . C T 100 PASS DP=98;CSQ_Allele=T;CSQ_SYMBOL=ATR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.3120G>A;CSQ_HGVSp=NP_001175.2:p.Leu1040%3D;CSQ_HGVSg=3:g.142268372C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=157975;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=513;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.0166364;CSQ_gnomADe_AC=4294;CSQ_gnomADe_AN=244352;CSQ_gnomADe_AF=0.017573;CSQ_gnomADe_Hom=72;CSQ_COSMICcMuts=COSV63385660&COSV63385660;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.12;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATR:L1040L&ATR:L976L;CSQ_CADD_PHRED=11.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,8:98:0.08163:65:-100:0.216:1,2,1,1,0,3,15,33,9,17,7,17:100:100 +3 142269075 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=ATR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.2875G>A;CSQ_HGVSp=NP_001175.2:p.Val959Met;CSQ_HGVSg=3:g.142269075C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=157974;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=514;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.0165903;CSQ_gnomADe_AC=4479;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.0181962;CSQ_gnomADe_Hom=83;CSQ_COSMICcMuts=COSV63385663&COSV63385663;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.065;CSQ_Mastermind_MMID3=ATR:V895M&ATR:V959M;CSQ_CADD_PHRED=17.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-100:0.184:3,3,0,1,1,1,30,38,10,22,14,19:100:100 +3 142277536 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=ATR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.1815T>C;CSQ_HGVSp=NP_001175.2:p.Asp605%3D;CSQ_HGVSg=3:g.142277536A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=157966;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=10374;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.335772;CSQ_gnomADe_AC=87738;CSQ_gnomADe_AN=245904;CSQ_gnomADe_AF=0.356798;CSQ_gnomADe_Hom=16333;CSQ_COSMICcMuts=COSV63386203&COSV63386203;CSQ_COSMICncMuts=COSV63386203;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATR:D541D&ATR:D605D;CSQ_CADD_PHRED=7.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,60:120:0.5:65:-100:0.1892:11,22,2,15,3,7,21,40,3,30,6,20:100:100 +3 142277575 . A T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ATR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.1776T>A;CSQ_HGVSp=NP_001175.2:p.Gly592%3D;CSQ_HGVSg=3:g.142277575A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=157965;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=19429;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.629953;CSQ_gnomADe_AC=133893;CSQ_gnomADe_AN=245418;CSQ_gnomADe_AF=0.545571;CSQ_gnomADe_Hom=37666;CSQ_COSMICcMuts=COSV63383320&COSV63383320;CSQ_COSMICncMuts=COSV63383320;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATR:G528G&ATR:G592G;CSQ_CADD_PHRED=9.894 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,104:144:0.72222:65:-100:0.1377:21,28,9,19,10,17,28,40,12,25,12,27:100:100 +3 142281612 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=ATR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.632T>C;CSQ_HGVSp=NP_001175.2:p.Met211Thr;CSQ_HGVSg=3:g.142281612A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=93668;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Seckel_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=19429;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.629137;CSQ_gnomADe_AC=132211;CSQ_gnomADe_AN=241462;CSQ_gnomADe_AF=0.547544;CSQ_gnomADe_Hom=37161;CSQ_COSMICcMuts=COSV63383325&COSV63383325;CSQ_COSMICncMuts=COSV63383325&COSV63383325;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.089;CSQ_Mastermind_MMID3=ATR:M211T;CSQ_CADD_PHRED=14.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,117:161:0.72671:65:-100:0.139:21,33,14,22,10,17,26,49,15,32,12,27:100:100 +3 142286995 . C T 100 PASS DP=102;CSQ_Allele=T;CSQ_SYMBOL=ATR;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/47;CSQ_INTRON=.;CSQ_Feature=NM_001184.4;CSQ_HGVSc=NM_001184.4:c.61G>A;CSQ_HGVSp=NP_001175.2:p.Ala21Thr;CSQ_HGVSg=3:g.142286995C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.060;CSQ_Mastermind_MMID3=ATR:A21T&ATR:S20sra;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,10:102:0.09804:65:-100:0.157:3,3,0,2,0,2,22,40,9,9,7,15:100:100 +3 169988210 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PRKCI;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/18;CSQ_INTRON=.;CSQ_Feature=NM_002740.6;CSQ_HGVSc=NM_002740.6:c.452G>A;CSQ_HGVSp=NP_002731.4:p.Arg151His;CSQ_HGVSg=3:g.169988210G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=242896;CSQ_gnomADe_AF=4.11699e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.733;CSQ_Mastermind_MMID3=PRKCI:R150sra&PRKCI:R151H;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,7:115:0.06087:65:-98.8589:0.1901:1,3,2,1,0,0,20,38,15,18,11,13:74.335:100 +3 169988286 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=PRKCI;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/18;CSQ_INTRON=.;CSQ_Feature=NM_002740.6;CSQ_HGVSc=NM_002740.6:c.528C>T;CSQ_HGVSp=NP_002731.4:p.Leu176%3D;CSQ_HGVSg=3:g.169988286C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3683;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.119516;CSQ_gnomADe_AC=32066;CSQ_gnomADe_AN=246018;CSQ_gnomADe_AF=0.13034;CSQ_gnomADe_Hom=2429;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRKCI:L176L;CSQ_CADD_PHRED=7.276 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,36:119:0.30252:65:-100:0.156:4,14,2,9,2,5,21,40,4,25,11,18:100:100 +3 178866408 . C T 100 PASS DP=57;CSQ_Allele=T;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/20;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.-77+17C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.178866408C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5484;CSQ_gnomADg_AN=30552;CSQ_gnomADg_AF=0.179497;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55874885;CSQ_COSMICncMuts=COSV55874885&COSV55874885;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CA:5UTR&PIK3CA:5UTRint&PIK3CA:5UTRintd;CSQ_CADD_PHRED=15.77 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,30:57:0.52632:65:-100:0.0656:12,6,3,3,4,2,24,12,6,6,6,3:100:100 +3 178884337 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/20;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.-77+17946C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.178884337C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5879;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.190111;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CA:5UTR&PIK3CA:5UTRint&PIK3CA:5UTRintd;CSQ_CADD_PHRED=9.441 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,52:164:0.31707:65:-100:0.0989:10,12,6,10,7,7,26,52,18,29,13,26:100:100 +3 178891409 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/20;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.-77+25018G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.178891409G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7334;CSQ_gnomADg_AN=30782;CSQ_gnomADg_AF=0.238256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.037 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,7:102:0.06863:65:-49.8149:0.1356:1,0,0,1,2,3,23,24,8,17,13,17:61.337:100 +3 178891421 . A G 100 PASS DP=114;CSQ_Allele=G;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/20;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.-77+25030A>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.178891421A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7431;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.240875;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.896 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,8:114:0.07018:65:-100:0.1364:1,1,0,1,3,2,21,34,8,20,14,17:94.02:100 +3 178892409 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/20;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.-76-24129G>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.178892409G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2925;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0945256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.837 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,17:146:0.11644:65:-100:0.1257:4,4,2,3,2,2,22,48,13,31,11,21:100:100 +3 178927410 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.1173A>G;CSQ_HGVSp=NP_006209.2:p.Ile391Met;CSQ_HGVSg=3:g.178927410A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135038;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cowden_syndrome&Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes¬_specified¬_provided;CSQ_gnomADg_AC=2942;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0951734;CSQ_gnomADe_AC=15142;CSQ_gnomADe_AN=245014;CSQ_gnomADe_AF=0.0618006;CSQ_gnomADe_Hom=787;CSQ_COSMICcMuts=COSV55885079;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.236;CSQ_Mastermind_MMID3=PIK3CA:I391M;CSQ_CADD_PHRED=14.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,7:112:0.0625:65:-100:0.1385:3,1,0,0,1,2,20,31,8,22,10,21:93.025:100 +3 178936091 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/21;CSQ_INTRON=.;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.1633G>A;CSQ_HGVSp=NP_006209.2:p.Glu545Lys;CSQ_HGVSg=3:g.178936091G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=13655;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebrofacial_Vascular_Metameric_Syndrome_(CVMS)&Segmental_undergrowth_associated_with_lymphatic_malformation&Hepatocellular_carcinoma&Abnormality_of_cardiovascular_system_morphology&Pancreatic_adenocarcinoma&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Gastric_cancer&Lung_adenocarcinoma&Small_cell_lung_carcinoma&Non-small_cell_lung_carcinoma&Squamous_cell_lung_carcinoma&Neoplasm_of_brain&Seborrheic_keratosis&Neoplasm_of_uterine_cervix&Gastric_adenocarcinoma&Sarcoma&Neoplasm_of_ovary&Nasopharyngeal_neoplasm&Neoplasm_of_the_large_intestine&Carcinoma_of_colon&Gallbladder_carcinoma&Breast_adenocarcinoma&Prostate_adenocarcinoma&Gallbladder_cancer&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Squamous_cell_carcinoma_of_the_head_and_neck&Megalencephaly-capillary_malformation-polymicrogyria_syndrome&CLOVES_syndrome&Glioblastoma&PIK3CA_related_overgrowth_syndrome&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus&Eccrine_Angiomatous_Hamartoma&OVARIAN_CANCER&_EPITHELIAL&_SOMATIC¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55873239;CSQ_COSMICncMuts=COSV55873239;CSQ_CGC=oncogene;CSQ_Hotspots=PIK3CA:E545;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.654;CSQ_Mastermind_MMID3=PIK3CA:E545K;CSQ_CADD_PHRED=30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,6:115:0.05217:65:-100:0.1154:3,0,0,0,1,2,21,37,15,16,11,15:67.13:100 +3 178947865 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/21;CSQ_INTRON=.;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.2740G>A;CSQ_HGVSp=NP_006209.2:p.Gly914Arg;CSQ_HGVSg=3:g.178947865G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=39703;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Abnormality_of_cardiovascular_system_morphology&Abnormal_cerebral_morphology&Angioosteohypertrophic_syndrome&Megalencephaly-capillary_malformation-polymicrogyria_syndrome&Cowden_syndrome_5&Cowden_syndrome&Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55930478;CSQ_COSMICncMuts=COSV55930478;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=0.871;CSQ_Mastermind_MMID3=PIK3CA:G914R;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,9:127:0.07087:65:-100:0.1589:1,7,0,1,0,0,17,53,7,25,12,13:100:100 +3 178950297 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/20;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.2937-1585C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.178950297C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20038;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.649235;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CA:R979int&PIK3CA:R979inta;CSQ_CADD_PHRED=2.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,46:96:0.47917:65:-100:0.1864:7,12,3,14,5,5,15,22,11,25,10,13:100:100 +3 178952085 . A G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.3140A>G;CSQ_HGVSp=NP_006209.2:p.His1047Arg;CSQ_HGVSg=3:g.178952085A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=13652;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=CEREBRAL_CAVERNOUS_MALFORMATIONS_4&_SOMATIC&Cerebrofacial_Vascular_Metameric_Syndrome_(CVMS)&MACRODACTYLY&_SOMATIC&Segmental_undergrowth_associated_with_lymphatic_malformation&Segmental_undergrowth_associated_with_mainly_venous_malformation_with_capillary_component&Hepatocellular_carcinoma&Abnormality_of_cardiovascular_system_morphology&Neoplasm&Medulloblastoma&Adrenal_cortex_carcinoma&Congenital_macrodactylia&Pancreatic_adenocarcinoma&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Gastric_cancer&Rosette-forming_glioneuronal_tumor&Lung_adenocarcinoma&Non-small_cell_lung_carcinoma&Squamous_cell_lung_carcinoma&Neoplasm_of_brain&Seborrheic_keratosis&Neoplasm_of_uterine_cervix&Gastric_adenocarcinoma&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Carcinoma_of_colon&Breast_adenocarcinoma&Prostate_adenocarcinoma&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Squamous_cell_carcinoma_of_the_head_and_neck&Megalencephaly-capillary_malformation-polymicrogyria_syndrome&CLOVES_syndrome&CLAPO_syndrome&Familial_cancer_of_breast&Glioblastoma&Lip_and_oral_cavity_carcinoma&PIK3CA_related_overgrowth_syndrome&Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes&Malignant_neoplasm_of_body_of_uterus&OVARIAN_CANCER&_EPITHELIAL&_SOMATIC¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=244902;CSQ_gnomADe_AF=4.08327e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55873195;CSQ_COSMICncMuts=COSV55873195;CSQ_CGC=oncogene;CSQ_Hotspots=PIK3CA:H1047;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.455;CSQ_Mastermind_MMID3=PIK3CA:H1047R;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,24:129:0.18605:65:-100:0.1677:1,7,1,7,2,6,21,31,11,23,16,27:100:100 +3 178952090 . G T 44 LowSupport;rescued DP=132;CSQ_Allele=T;CSQ_SYMBOL=PIK3CA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_006218.4;CSQ_HGVSc=NM_006218.4:c.3145G>T;CSQ_HGVSp=NP_006209.2:p.Gly1049Cys;CSQ_HGVSg=3:g.178952090G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1511013;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cowden_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55919873;CSQ_COSMICncMuts=COSV55919873;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.696;CSQ_Mastermind_MMID3=PIK3CA:G1049C;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:44:131,1:132:0.00758:65:-46.549:0.1429:0,0,0,1,0,0,23,34,12,21,15,27:6.395:0 +3 182681740 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=DCUN1D1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/7;CSQ_INTRON=.;CSQ_Feature=NM_020640.4;CSQ_HGVSc=NM_020640.4:c.318G>A;CSQ_HGVSp=NP_065691.2:p.Ala106%3D;CSQ_HGVSg=3:g.182681740C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22779;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.736279;CSQ_gnomADe_AC=169191;CSQ_gnomADe_AN=246032;CSQ_gnomADe_AF=0.687679;CSQ_gnomADe_Hom=60255;CSQ_COSMICcMuts=COSV53044616&COSV53044616;CSQ_COSMICncMuts=COSV53044616;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DCUN1D1:A106A&DCUN1D1:A91A;CSQ_CADD_PHRED=10.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,115:148:0.77703:65:-100:0.1138:21,41,9,20,7,17,25,51,10,26,11,25:100:100 +3 183211906 . A G 100 PASS DP=175;CSQ_Allele=G;CSQ_SYMBOL=KLHL6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_130446.4;CSQ_HGVSc=NM_130446.4:c.1311T>C;CSQ_HGVSp=NP_569713.2:p.Asn437%3D;CSQ_HGVSg=3:g.183211906A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17674;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.571345;CSQ_gnomADe_AC=136827;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.555611;CSQ_gnomADe_Hom=40072;CSQ_COSMICcMuts=COSV58066416;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KLHL6:N437N;CSQ_CADD_PHRED=7.464 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,62:175:0.35429:65:-100:0.0979:5,27,6,10,5,9,25,62,14,32,15,27:100:100 +3 183273180 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=KLHL6;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_130446.4;CSQ_HGVSc=NM_130446.4:c.262G>A;CSQ_HGVSp=NP_569713.2:p.Val88Met;CSQ_HGVSg=3:g.183273180C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245946;CSQ_gnomADe_AF=4.06593e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58064738;CSQ_COSMICncMuts=COSV58064738;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.370;CSQ_Mastermind_MMID3=KLHL6:V88M;CSQ_CADD_PHRED=28.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,13:132:0.09848:65:-100:0.1951:3,6,0,1,1,2,25,47,7,18,15,20:100:100 +3 185146702 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=MAP3K13;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/15;CSQ_INTRON=.;CSQ_Feature=NM_001242314.2;CSQ_HGVSc=NM_001242314.2:c.333C>T;CSQ_HGVSp=NP_001229243.1:p.Ser111%3D;CSQ_HGVSg=3:g.185146702C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3839;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.124103;CSQ_gnomADe_AC=38849;CSQ_gnomADe_AN=246014;CSQ_gnomADe_AF=0.157914;CSQ_gnomADe_Hom=3467;CSQ_COSMICcMuts=COSV53989226&COSV53989226&COSV53989226&COSV53989226&COSV53989226;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K13:R13int&MAP3K13:R13inta&MAP3K13:S111S;CSQ_CADD_PHRED=1.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,12:176:0.06818:65:-100:0.1066:1,3,1,3,2,2,31,56,17,36,13,23:100:100 +3 185146702 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=MAP3K13;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/12;CSQ_Feature=NM_001242317.2;CSQ_HGVSc=NM_001242317.2:c.39-14531C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.185146702C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3839;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.124103;CSQ_gnomADe_AC=38849;CSQ_gnomADe_AN=246014;CSQ_gnomADe_AF=0.157914;CSQ_gnomADe_Hom=3467;CSQ_COSMICcMuts=COSV53989226&COSV53989226&COSV53989226&COSV53989226&COSV53989226;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K13:R13int&MAP3K13:R13inta&MAP3K13:S111S;CSQ_CADD_PHRED=1.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,12:176:0.06818:65:-100:0.1066:1,3,1,3,2,2,31,56,17,36,13,23:100:100 +3 185146702 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=MAP3K13;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/14;CSQ_INTRON=.;CSQ_Feature=NM_004721.5;CSQ_HGVSc=NM_004721.5:c.333C>T;CSQ_HGVSp=NP_004712.1:p.Ser111%3D;CSQ_HGVSg=3:g.185146702C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3839;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.124103;CSQ_gnomADe_AC=38849;CSQ_gnomADe_AN=246014;CSQ_gnomADe_AF=0.157914;CSQ_gnomADe_Hom=3467;CSQ_COSMICcMuts=COSV53989226&COSV53989226&COSV53989226&COSV53989226&COSV53989226;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K13:R13int&MAP3K13:R13inta&MAP3K13:S111S;CSQ_CADD_PHRED=1.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,12:176:0.06818:65:-100:0.1066:1,3,1,3,2,2,31,56,17,36,13,23:100:100 +3 185191066 . C A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=MAP3K13;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/15;CSQ_INTRON=.;CSQ_Feature=NM_001242314.2;CSQ_HGVSc=NM_001242314.2:c.1947C>A;CSQ_HGVSp=NP_001229243.1:p.Ser649%3D;CSQ_HGVSg=3:g.185191066C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53998967&COSV53998967&COSV53998967&COSV53998967&COSV53998967;CSQ_COSMICncMuts=COSV53998967;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K13:S649S;CSQ_CADD_PHRED=5.547 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,12:159:0.07547:65:-100:0.1719:0,4,2,5,0,1,29,44,15,33,16,22:100:100 +3 185191066 . C A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=MAP3K13;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/13;CSQ_INTRON=.;CSQ_Feature=NM_001242317.2;CSQ_HGVSc=NM_001242317.2:c.1326C>A;CSQ_HGVSp=NP_001229246.1:p.Ser442%3D;CSQ_HGVSg=3:g.185191066C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53998967&COSV53998967&COSV53998967&COSV53998967&COSV53998967;CSQ_COSMICncMuts=COSV53998967;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.547 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,12:159:0.07547:65:-100:0.1719:0,4,2,5,0,1,29,44,15,33,16,22:100:100 +3 185191066 . C A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=MAP3K13;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/14;CSQ_INTRON=.;CSQ_Feature=NM_004721.5;CSQ_HGVSc=NM_004721.5:c.1947C>A;CSQ_HGVSp=NP_004712.1:p.Ser649%3D;CSQ_HGVSg=3:g.185191066C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53998967&COSV53998967&COSV53998967&COSV53998967&COSV53998967;CSQ_COSMICncMuts=COSV53998967;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K13:S649S;CSQ_CADD_PHRED=5.547 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,12:159:0.07547:65:-100:0.1719:0,4,2,5,0,1,29,44,15,33,16,22:100:100 +3 185764463 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=ETV5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_004454.3;CSQ_HGVSc=NM_004454.3:c.*1965C>T;CSQ_HGVSp=.;CSQ_HGVSg=3:g.185764463G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV5:3UTR;CSQ_CADD_PHRED=7.879 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,58:119:0.4874:65:-100:0.2013:7,10,6,16,5,14,17,25,10,29,9,29:100:100 +3 185765391 . A C 100 PASS DP=176;CSQ_Allele=C;CSQ_SYMBOL=ETV5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_004454.3;CSQ_HGVSc=NM_004454.3:c.*1037T>G;CSQ_HGVSp=.;CSQ_HGVSg=3:g.185765391A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=194;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0062698;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,28:176:0.15909:65:-100:0.102:5,7,1,5,4,6,21,68,11,28,14,34:100:100 +3 185765580 . G GT 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_004454.3;CSQ_HGVSc=NM_004454.3:c.*847dup;CSQ_HGVSp=.;CSQ_HGVSg=3:g.185765586dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60499478;CSQ_COSMICncMuts=COSV60499478&COSV60499478&COSV60499478&COSV60499478;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV5:3UTR;CSQ_CADD_PHRED=5.977 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,79:150:0.52667:65:-100:0:12,26,11,12,8,10,20,52,16,25,16,21:100:100 +3 186504407 . A G 100 PASS DP=98;CSQ_Allele=G;CSQ_SYMBOL=EIF4A2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_001967.4;CSQ_HGVSc=NM_001967.4:c.744A>G;CSQ_HGVSp=NP_001958.2:p.Lys248%3D;CSQ_HGVSg=3:g.186504407A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=295;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.00952166;CSQ_gnomADe_AC=3732;CSQ_gnomADe_AN=246160;CSQ_gnomADe_AF=0.0151609;CSQ_gnomADe_Hom=91;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EIF4A2:K248K;CSQ_CADD_PHRED=12.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,6:98:0.06122:65:-48.1876:0.1404:3,1,0,1,0,1,18,28,9,22,7,14:74.292:100 +3 186505293 . A G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=EIF4A2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/11;CSQ_INTRON=.;CSQ_Feature=NM_001967.4;CSQ_HGVSc=NM_001967.4:c.919A>G;CSQ_HGVSp=NP_001958.2:p.Met307Val;CSQ_HGVSg=3:g.186505293A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56215734&COSV56215734&COSV56215734;CSQ_COSMICncMuts=COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734&COSV56215734;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=0.787;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,13:127:0.10236:65:-100:0.1119:1,2,2,3,2,3,22,41,12,22,9,21:100:100 +3 187443314 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=BCL6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_001130845.2;CSQ_HGVSc=NM_001130845.2:c.1812C>T;CSQ_HGVSp=NP_001124317.1:p.Cys604%3D;CSQ_HGVSg=3:g.187443314G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2552;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0824822;CSQ_gnomADe_AC=16719;CSQ_gnomADe_AN=246222;CSQ_gnomADe_AF=0.0679021;CSQ_gnomADe_Hom=637;CSQ_COSMICcMuts=COSV51652282&COSV51652282&COSV51652282&COSV51652282&COSV51652282;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL6:C548C&BCL6:C604C;CSQ_CADD_PHRED=11.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,13:153:0.08497:65:-100:0.2154:3,3,1,1,2,3,25,48,9,24,22,25:100:100 +3 187443314 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=BCL6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_001134738.1;CSQ_HGVSc=NM_001134738.1:c.1644C>T;CSQ_HGVSp=NP_001128210.1:p.Cys548%3D;CSQ_HGVSg=3:g.187443314G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2552;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0824822;CSQ_gnomADe_AC=16719;CSQ_gnomADe_AN=246222;CSQ_gnomADe_AF=0.0679021;CSQ_gnomADe_Hom=637;CSQ_COSMICcMuts=COSV51652282&COSV51652282&COSV51652282&COSV51652282&COSV51652282;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL6:C548C&BCL6:C604C;CSQ_CADD_PHRED=11.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,13:153:0.08497:65:-100:0.2154:3,3,1,1,2,3,25,48,9,24,22,25:100:100 +3 187446153 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=BCL6;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001130845.2;CSQ_HGVSc=NM_001130845.2:c.1535G>A;CSQ_HGVSp=NP_001124317.1:p.Ser512Asn;CSQ_HGVSg=3:g.187446153C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51656257&COSV51656257&COSV51656257&COSV51656257&COSV51656257;CSQ_COSMICncMuts=COSV51656257&COSV51656257&COSV51656257&COSV51656257;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.154;CSQ_Mastermind_MMID3=BCL6:S512N;CSQ_CADD_PHRED=26.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-95.2806:0.1572:1,4,0,0,0,1,22,49,8,27,7,21:71.753:100 +3 187446153 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=BCL6;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/8;CSQ_INTRON=.;CSQ_Feature=NM_001134738.1;CSQ_HGVSc=NM_001134738.1:c.1535G>A;CSQ_HGVSp=NP_001128210.1:p.Ser512Asn;CSQ_HGVSg=3:g.187446153C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51656257&COSV51656257&COSV51656257&COSV51656257&COSV51656257;CSQ_COSMICncMuts=COSV51656257&COSV51656257&COSV51656257&COSV51656257;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.154;CSQ_Mastermind_MMID3=BCL6:S512N;CSQ_CADD_PHRED=26.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-95.2806:0.1572:1,4,0,0,0,1,22,49,8,27,7,21:71.753:100 +3 187447032 . G A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=BCL6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001130845.2;CSQ_HGVSc=NM_001130845.2:c.1161C>T;CSQ_HGVSp=NP_001124317.1:p.Asn387%3D;CSQ_HGVSg=3:g.187447032G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16395;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.530995;CSQ_gnomADe_AC=162058;CSQ_gnomADe_AN=246218;CSQ_gnomADe_AF=0.658189;CSQ_gnomADe_Hom=55736;CSQ_COSMICcMuts=COSV51649553&COSV51649553&COSV51649553&COSV51649553&COSV51649553;CSQ_COSMICncMuts=COSV51649553&COSV51649553&COSV51649553&COSV51649553;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL6:N387N;CSQ_CADD_PHRED=9.358 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,112:138:0.81159:65:-100:0.1321:19,32,15,19,13,14,26,38,18,24,16,16:100:100 +3 187447032 . G A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=BCL6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_001134738.1;CSQ_HGVSc=NM_001134738.1:c.1161C>T;CSQ_HGVSp=NP_001128210.1:p.Asn387%3D;CSQ_HGVSg=3:g.187447032G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16395;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.530995;CSQ_gnomADe_AC=162058;CSQ_gnomADe_AN=246218;CSQ_gnomADe_AF=0.658189;CSQ_gnomADe_Hom=55736;CSQ_COSMICcMuts=COSV51649553&COSV51649553&COSV51649553&COSV51649553&COSV51649553;CSQ_COSMICncMuts=COSV51649553&COSV51649553&COSV51649553&COSV51649553;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL6:N387N;CSQ_CADD_PHRED=9.358 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,112:138:0.81159:65:-100:0.1321:19,32,15,19,13,14,26,38,18,24,16,16:100:100 +3 189582134 . C CA 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=TP63;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/13;CSQ_INTRON=.;CSQ_Feature=NM_001114978.2;CSQ_HGVSc=NM_001114978.2:c.699dup;CSQ_HGVSp=NP_001108450.1:p.Ala234SerfsTer2;CSQ_HGVSg=3:g.189582140dup;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787;CSQ_COSMICncMuts=COSV53217787;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,11:142:0.07746:65:-100:0:2,4,0,2,1,2,24,47,11,26,9,24:100:100 +3 189582134 . C CA 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=TP63;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001114979.2;CSQ_HGVSc=NM_001114979.2:c.699dup;CSQ_HGVSp=NP_001108451.1:p.Ala234SerfsTer2;CSQ_HGVSg=3:g.189582140dup;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787;CSQ_COSMICncMuts=COSV53217787;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,11:142:0.07746:65:-100:0:2,4,0,2,1,2,24,47,11,26,9,24:100:100 +3 189582134 . C CA 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=TP63;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/12;CSQ_INTRON=.;CSQ_Feature=NM_001114980.2;CSQ_HGVSc=NM_001114980.2:c.417dup;CSQ_HGVSp=NP_001108452.1:p.Ala140SerfsTer2;CSQ_HGVSg=3:g.189582140dup;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787;CSQ_COSMICncMuts=COSV53217787;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,11:142:0.07746:65:-100:0:2,4,0,2,1,2,24,47,11,26,9,24:100:100 +3 189582134 . C CA 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=TP63;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/14;CSQ_INTRON=.;CSQ_Feature=NM_003722.5;CSQ_HGVSc=NM_003722.5:c.699dup;CSQ_HGVSp=NP_003713.3:p.Ala234SerfsTer2;CSQ_HGVSg=3:g.189582140dup;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787&COSV53217787;CSQ_COSMICncMuts=COSV53217787;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,11:142:0.07746:65:-100:0:2,4,0,2,1,2,24,47,11,26,9,24:100:100 +3 189604242 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=TP63;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/13;CSQ_INTRON=.;CSQ_Feature=NM_001114978.2;CSQ_HGVSc=NM_001114978.2:c.1409A>G;CSQ_HGVSp=NP_001108450.1:p.Asn470Ser;CSQ_HGVSg=3:g.189604242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132;CSQ_COSMICncMuts=COSV53202132&COSV53202132;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=0.402;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,7:122:0.05738:65:-96.6195:0.1586:0,2,1,3,0,1,18,40,12,24,9,19:84.835:100 +3 189604242 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=TP63;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001114979.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=3:g.189604242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132;CSQ_COSMICncMuts=COSV53202132&COSV53202132;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,7:122:0.05738:65:-96.6195:0.1586:0,2,1,3,0,1,18,40,12,24,9,19:84.835:100 +3 189604242 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=TP63;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_001114980.2;CSQ_HGVSc=NM_001114980.2:c.1127A>G;CSQ_HGVSp=NP_001108452.1:p.Asn376Ser;CSQ_HGVSg=3:g.189604242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132;CSQ_COSMICncMuts=COSV53202132&COSV53202132;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=0.402;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,7:122:0.05738:65:-96.6195:0.1586:0,2,1,3,0,1,18,40,12,24,9,19:84.835:100 +3 189604242 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=TP63;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/14;CSQ_INTRON=.;CSQ_Feature=NM_003722.5;CSQ_HGVSc=NM_003722.5:c.1409A>G;CSQ_HGVSp=NP_003713.3:p.Asn470Ser;CSQ_HGVSg=3:g.189604242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132&COSV53202132;CSQ_COSMICncMuts=COSV53202132&COSV53202132;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=0.402;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,7:122:0.05738:65:-96.6195:0.1586:0,2,1,3,0,1,18,40,12,24,9,19:84.835:100 +3 195778972 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=TFRC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_001128148.3;CSQ_HGVSc=NM_001128148.3:c.2124G>A;CSQ_HGVSp=NP_001121620.1:p.Thr708%3D;CSQ_HGVSg=3:g.195778972C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1166123;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2274;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0735066;CSQ_gnomADe_AC=22171;CSQ_gnomADe_AN=246108;CSQ_gnomADe_AF=0.0900865;CSQ_gnomADe_Hom=1224;CSQ_COSMICcMuts=COSV64057372&COSV64057372&COSV64057372&COSV64057372&COSV64057372;CSQ_COSMICncMuts=COSV64057372&COSV64057372&COSV64057372;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TFRC:T426T&TFRC:T627T&TFRC:T708T;CSQ_CADD_PHRED=0.678 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,21:139:0.15108:65:-100:0.1146:3,7,1,4,0,6,22,42,12,27,18,18:100:100 +3 195778972 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=TFRC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_003234.4;CSQ_HGVSc=NM_003234.4:c.2124G>A;CSQ_HGVSp=NP_003225.2:p.Thr708%3D;CSQ_HGVSg=3:g.195778972C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1166123;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2274;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0735066;CSQ_gnomADe_AC=22171;CSQ_gnomADe_AN=246108;CSQ_gnomADe_AF=0.0900865;CSQ_gnomADe_Hom=1224;CSQ_COSMICcMuts=COSV64057372&COSV64057372&COSV64057372&COSV64057372&COSV64057372;CSQ_COSMICncMuts=COSV64057372&COSV64057372&COSV64057372;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TFRC:T426T&TFRC:T627T&TFRC:T708T;CSQ_CADD_PHRED=0.678 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,21:139:0.15108:65:-100:0.1146:3,7,1,4,0,6,22,42,12,27,18,18:100:100 +3 195794241 . A T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=TFRC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/18;CSQ_Feature=NM_001128148.3;CSQ_HGVSc=NM_001128148.3:c.1040+148T>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.195794241A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1268142;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=14788;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.478328;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TFRC:G266int&TFRC:G266intd&TFRC:G347int&TFRC:G347intd&TFRC:G65int&TFRC:G65intd;CSQ_CADD_PHRED=8.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,48:109:0.44037:65:-100:0.0992:6,17,3,11,3,8,17,40,8,22,4,18:100:100 +3 195794241 . A T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=TFRC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/18;CSQ_Feature=NM_003234.4;CSQ_HGVSc=NM_003234.4:c.1040+148T>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.195794241A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1268142;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=14788;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.478328;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TFRC:G266int&TFRC:G266intd&TFRC:G347int&TFRC:G347intd&TFRC:G65int&TFRC:G65intd;CSQ_CADD_PHRED=8.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,48:109:0.44037:65:-100:0.0992:6,17,3,11,3,8,17,40,8,22,4,18:100:100 +3 195796574 . A T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=TFRC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/18;CSQ_Feature=NM_001128148.3;CSQ_HGVSc=NM_001128148.3:c.688-135T>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.195796574A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2500;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0807389;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TFRC:5UTR&TFRC:5UTRint&TFRC:5UTRinta&TFRC:T148int&TFRC:T148inta&TFRC:T229int&TFRC:T229inta;CSQ_CADD_PHRED=7.903 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,8:124:0.06452:65:-97.5933:0.1895:0,2,1,2,1,2,23,38,13,16,15,19:99.017:100 +3 195796574 . A T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=TFRC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/18;CSQ_Feature=NM_003234.4;CSQ_HGVSc=NM_003234.4:c.688-135T>A;CSQ_HGVSp=.;CSQ_HGVSg=3:g.195796574A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2500;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0807389;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TFRC:5UTR&TFRC:5UTRint&TFRC:5UTRinta&TFRC:T148int&TFRC:T148inta&TFRC:T229int&TFRC:T229inta;CSQ_CADD_PHRED=7.903 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,8:124:0.06452:65:-97.5933:0.1895:0,2,1,2,1,2,23,38,13,16,15,19:99.017:100 +3 195800811 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=TFRC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/19;CSQ_INTRON=.;CSQ_Feature=NM_001128148.3;CSQ_HGVSc=NM_001128148.3:c.424G>A;CSQ_HGVSp=NP_001121620.1:p.Gly142Ser;CSQ_HGVSg=3:g.195800811C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1164902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=TFRC-related_combined_immunodeficiency¬_provided;CSQ_gnomADg_AC=13048;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.422347;CSQ_gnomADe_AC=110111;CSQ_gnomADe_AN=244502;CSQ_gnomADe_AF=0.450348;CSQ_gnomADe_Hom=27027;CSQ_COSMICcMuts=COSV64056155&COSV64056155&COSV64056155&COSV64056155&COSV64056155;CSQ_COSMICncMuts=COSV64056155&COSV64056155&COSV64056155;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.022;CSQ_Mastermind_MMID3=TFRC:5UTR&TFRC:5UTRint&TFRC:5UTRinta&TFRC:G142S&TFRC:G61S;CSQ_CADD_PHRED=4.611 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,68:143:0.47552:65:-100:0.1386:16,22,7,10,5,8,25,44,14,26,8,26:100:100 +3 195800811 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=TFRC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/19;CSQ_INTRON=.;CSQ_Feature=NM_003234.4;CSQ_HGVSc=NM_003234.4:c.424G>A;CSQ_HGVSp=NP_003225.2:p.Gly142Ser;CSQ_HGVSg=3:g.195800811C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1164902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=TFRC-related_combined_immunodeficiency¬_provided;CSQ_gnomADg_AC=13048;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.422347;CSQ_gnomADe_AC=110111;CSQ_gnomADe_AN=244502;CSQ_gnomADe_AF=0.450348;CSQ_gnomADe_Hom=27027;CSQ_COSMICcMuts=COSV64056155&COSV64056155&COSV64056155&COSV64056155&COSV64056155;CSQ_COSMICncMuts=COSV64056155&COSV64056155&COSV64056155;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.022;CSQ_Mastermind_MMID3=TFRC:5UTR&TFRC:5UTRint&TFRC:5UTRinta&TFRC:G142S&TFRC:G61S;CSQ_CADD_PHRED=4.611 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,68:143:0.47552:65:-100:0.1386:16,22,7,10,5,8,25,44,14,26,8,26:100:100 +4 1797741 . T C 100 PASS DP=94;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/17;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.109+1971T>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1797741T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12050;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.390726;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:E37int&FGFR3:E37intd;CSQ_CADD_PHRED=3.484 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,37:94:0.39362:65:-100:0.2101:7,12,2,9,2,5,19,29,7,23,6,10:100:100 +4 1797741 . T C 100 PASS DP=94;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/17;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.109+1971T>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1797741T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12050;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.390726;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:E37int&FGFR3:E37intd;CSQ_CADD_PHRED=3.484 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,37:94:0.39362:65:-100:0.2101:7,12,2,9,2,5,19,29,7,23,6,10:100:100 +4 1797741 . T C 100 PASS DP=94;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/15;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.109+1971T>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1797741T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12050;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.390726;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:E37int&FGFR3:E37intd;CSQ_CADD_PHRED=3.484 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,37:94:0.39362:65:-100:0.2101:7,12,2,9,2,5,19,29,7,23,6,10:100:100 +4 1798356 . G C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/17;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.109+2586G>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1798356G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4440;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.143857;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:E37int&FGFR3:E37intd;CSQ_CADD_PHRED=0.545 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,32:116:0.27586:65:-100:0.1773:4,10,5,7,1,5,14,49,13,22,5,13:100:100 +4 1798356 . G C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/17;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.109+2586G>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1798356G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4440;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.143857;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:E37int&FGFR3:E37intd;CSQ_CADD_PHRED=0.545 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,32:116:0.27586:65:-100:0.1773:4,10,5,7,1,5,14,49,13,22,5,13:100:100 +4 1798356 . G C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/15;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.109+2586G>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1798356G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4440;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.143857;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:E37int&FGFR3:E37intd;CSQ_CADD_PHRED=0.545 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,32:116:0.27586:65:-100:0.1773:4,10,5,7,1,5,14,49,13,22,5,13:100:100 +4 1801137 . TG T 100 PASS DP=140;CSQ_Allele=-;CSQ_SYMBOL=FGFR3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/18;CSQ_INTRON=.;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.270del;CSQ_HGVSp=NP_000133.1:p.Gln92SerfsTer6;CSQ_HGVSg=4:g.1801141del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53394793&COSV53394793&COSV53394793&COSV53394793&COSV53394793&COSV53394793;CSQ_COSMICncMuts=COSV53394793&COSV53394793;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,13:140:0.09286:65:-100:0:1,6,1,1,1,3,17,44,11,25,11,32:100:100 +4 1801137 . TG T 100 PASS DP=140;CSQ_Allele=-;CSQ_SYMBOL=FGFR3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/18;CSQ_INTRON=.;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.270del;CSQ_HGVSp=NP_001156685.1:p.Gln92SerfsTer6;CSQ_HGVSg=4:g.1801141del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53394793&COSV53394793&COSV53394793&COSV53394793&COSV53394793&COSV53394793;CSQ_COSMICncMuts=COSV53394793&COSV53394793;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,13:140:0.09286:65:-100:0:1,6,1,1,1,3,17,44,11,25,11,32:100:100 +4 1801137 . TG T 100 PASS DP=140;CSQ_Allele=-;CSQ_SYMBOL=FGFR3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/16;CSQ_INTRON=.;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.270del;CSQ_HGVSp=NP_075254.1:p.Gln92SerfsTer6;CSQ_HGVSg=4:g.1801141del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53394793&COSV53394793&COSV53394793&COSV53394793&COSV53394793&COSV53394793;CSQ_COSMICncMuts=COSV53394793&COSV53394793;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,13:140:0.09286:65:-100:0:1,6,1,1,1,3,17,44,11,25,11,32:100:100 +4 1801511 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/18;CSQ_INTRON=.;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.417C>T;CSQ_HGVSp=NP_000133.1:p.Asp139%3D;CSQ_HGVSg=4:g.1801511C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255340;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Connective_tissue_disorder¬_specified¬_provided;CSQ_gnomADg_AC=1134;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0367014;CSQ_gnomADe_AC=9763;CSQ_gnomADe_AN=245238;CSQ_gnomADe_AF=0.0398103;CSQ_gnomADe_Hom=275;CSQ_COSMICcMuts=COSV99600667&COSV99600667&COSV99600667&COSV99600667&COSV99600667&COSV99600667;CSQ_COSMICncMuts=COSV99600667&COSV99600667&COSV99600667;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:D139D;CSQ_CADD_PHRED=5.537 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,8:153:0.05229:65:-46.8046:0.199:1,5,0,2,0,0,28,50,11,32,13,19:60.359:100 +4 1801511 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/18;CSQ_INTRON=.;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.417C>T;CSQ_HGVSp=NP_001156685.1:p.Asp139%3D;CSQ_HGVSg=4:g.1801511C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255340;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Connective_tissue_disorder¬_specified¬_provided;CSQ_gnomADg_AC=1134;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0367014;CSQ_gnomADe_AC=9763;CSQ_gnomADe_AN=245238;CSQ_gnomADe_AF=0.0398103;CSQ_gnomADe_Hom=275;CSQ_COSMICcMuts=COSV99600667&COSV99600667&COSV99600667&COSV99600667&COSV99600667&COSV99600667;CSQ_COSMICncMuts=COSV99600667&COSV99600667&COSV99600667;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:D139D;CSQ_CADD_PHRED=5.537 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,8:153:0.05229:65:-46.8046:0.199:1,5,0,2,0,0,28,50,11,32,13,19:60.359:100 +4 1801511 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/16;CSQ_INTRON=.;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.417C>T;CSQ_HGVSp=NP_075254.1:p.Asp139%3D;CSQ_HGVSg=4:g.1801511C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255340;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Connective_tissue_disorder¬_specified¬_provided;CSQ_gnomADg_AC=1134;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0367014;CSQ_gnomADe_AC=9763;CSQ_gnomADe_AN=245238;CSQ_gnomADe_AF=0.0398103;CSQ_gnomADe_Hom=275;CSQ_COSMICcMuts=COSV99600667&COSV99600667&COSV99600667&COSV99600667&COSV99600667&COSV99600667;CSQ_COSMICncMuts=COSV99600667&COSV99600667&COSV99600667;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:D139D;CSQ_CADD_PHRED=5.537 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,8:153:0.05229:65:-46.8046:0.199:1,5,0,2,0,0,28,50,11,32,13,19:60.359:100 +4 1803704 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/18;CSQ_INTRON=.;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.882T>C;CSQ_HGVSp=NP_000133.1:p.Asn294%3D;CSQ_HGVSg=4:g.1803704T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255346;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=6007;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.194817;CSQ_gnomADe_AC=39074;CSQ_gnomADe_AN=244412;CSQ_gnomADe_AF=0.159869;CSQ_gnomADe_Hom=3747;CSQ_COSMICcMuts=COSV53401699&COSV53401699&COSV53401699&COSV53401699&COSV53401699&COSV53401699;CSQ_COSMICncMuts=COSV53401699;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:N294N;CSQ_CADD_PHRED=8.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,34:145:0.23448:65:-100:0.157:6,11,3,5,3,6,28,53,15,15,11,23:100:100 +4 1803704 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/18;CSQ_INTRON=.;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.882T>C;CSQ_HGVSp=NP_001156685.1:p.Asn294%3D;CSQ_HGVSg=4:g.1803704T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255346;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=6007;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.194817;CSQ_gnomADe_AC=39074;CSQ_gnomADe_AN=244412;CSQ_gnomADe_AF=0.159869;CSQ_gnomADe_Hom=3747;CSQ_COSMICcMuts=COSV53401699&COSV53401699&COSV53401699&COSV53401699&COSV53401699&COSV53401699;CSQ_COSMICncMuts=COSV53401699;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:N294N;CSQ_CADD_PHRED=8.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,34:145:0.23448:65:-100:0.157:6,11,3,5,3,6,28,53,15,15,11,23:100:100 +4 1803704 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/16;CSQ_INTRON=.;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.882T>C;CSQ_HGVSp=NP_075254.1:p.Asn294%3D;CSQ_HGVSg=4:g.1803704T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255346;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=6007;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.194817;CSQ_gnomADe_AC=39074;CSQ_gnomADe_AN=244412;CSQ_gnomADe_AF=0.159869;CSQ_gnomADe_Hom=3747;CSQ_COSMICcMuts=COSV53401699&COSV53401699&COSV53401699&COSV53401699&COSV53401699&COSV53401699;CSQ_COSMICncMuts=COSV53401699;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:N294N;CSQ_CADD_PHRED=8.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,34:145:0.23448:65:-100:0.157:6,11,3,5,3,6,28,53,15,15,11,23:100:100 +4 1804466 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/17;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.930+714C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1804466C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.000971377;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.391 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,6:148:0.04054:65:-46.3668:0.1445:0,1,0,2,1,2,21,53,10,30,13,21:60.58:100 +4 1804466 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/17;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.931-175C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1804466C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.000971377;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.391 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,6:148:0.04054:65:-46.3668:0.1445:0,1,0,2,1,2,21,53,10,30,13,21:60.58:100 +4 1804466 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/15;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.930+714C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1804466C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.000971377;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.391 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,6:148:0.04054:65:-46.3668:0.1445:0,1,0,2,1,2,21,53,10,30,13,21:60.58:100 +4 1805296 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/17;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.931-123G>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1805296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=680177;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=28349;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.916672;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:A361int&FGFR3:A361intd&FGFR3:K310int&FGFR3:K310inta;CSQ_CADD_PHRED=14.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,130:141:0.92199:65:-100:0.1607:24,40,7,23,10,26,25,45,10,24,11,26:100:100 +4 1805296 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.1081+505G>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1805296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=680177;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=28349;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.916672;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:A361int&FGFR3:A361intd&FGFR3:K310int&FGFR3:K310inta;CSQ_CADD_PHRED=14.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,130:141:0.92199:65:-100:0.1607:24,40,7,23,10,26,25,45,10,24,11,26:100:100 +4 1805296 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=FGFR3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/15;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.931-1255G>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.1805296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=680177;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=28349;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.916672;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:A361int&FGFR3:A361intd&FGFR3:K310int&FGFR3:K310inta;CSQ_CADD_PHRED=14.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,130:141:0.92199:65:-100:0.1607:24,40,7,23,10,26,25,45,10,24,11,26:100:100 +4 1807478 . G T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/18;CSQ_INTRON=.;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.1647G>T;CSQ_HGVSp=NP_000133.1:p.Gly549%3D;CSQ_HGVSg=4:g.1807478G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255334;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Connective_tissue_disorder¬_specified¬_provided;CSQ_gnomADg_AC=979;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.0317239;CSQ_gnomADe_AC=5157;CSQ_gnomADe_AN=242812;CSQ_gnomADe_AF=0.0212387;CSQ_gnomADe_Hom=82;CSQ_COSMICcMuts=COSV53412125&COSV53412125&COSV53412125&COSV53412125&COSV53412125&COSV53412125;CSQ_COSMICncMuts=COSV53412125&COSV53412125;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:G437G&FGFR3:G549G&FGFR3:G549sra&FGFR3:G550G&FGFR3:G550sra&FGFR3:G551G&FGFR3:G551sra;CSQ_CADD_PHRED=11.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-100:0.2397:1,3,0,3,1,1,19,25,20,21,10,16:100:100 +4 1807478 . G T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/18;CSQ_INTRON=.;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.1653G>T;CSQ_HGVSp=NP_001156685.1:p.Gly551%3D;CSQ_HGVSg=4:g.1807478G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255334;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Connective_tissue_disorder¬_specified¬_provided;CSQ_gnomADg_AC=979;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.0317239;CSQ_gnomADe_AC=5157;CSQ_gnomADe_AN=242812;CSQ_gnomADe_AF=0.0212387;CSQ_gnomADe_Hom=82;CSQ_COSMICcMuts=COSV53412125&COSV53412125&COSV53412125&COSV53412125&COSV53412125&COSV53412125;CSQ_COSMICncMuts=COSV53412125&COSV53412125;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:G437G&FGFR3:G549G&FGFR3:G549sra&FGFR3:G550G&FGFR3:G550sra&FGFR3:G551G&FGFR3:G551sra;CSQ_CADD_PHRED=11.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-100:0.2397:1,3,0,3,1,1,19,25,20,21,10,16:100:100 +4 1807478 . G T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=FGFR3;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/16;CSQ_INTRON=.;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.1311G>T;CSQ_HGVSp=NP_075254.1:p.Gly437%3D;CSQ_HGVSg=4:g.1807478G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255334;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Connective_tissue_disorder¬_specified¬_provided;CSQ_gnomADg_AC=979;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.0317239;CSQ_gnomADe_AC=5157;CSQ_gnomADe_AN=242812;CSQ_gnomADe_AF=0.0212387;CSQ_gnomADe_Hom=82;CSQ_COSMICcMuts=COSV53412125&COSV53412125&COSV53412125&COSV53412125&COSV53412125&COSV53412125;CSQ_COSMICncMuts=COSV53412125&COSV53412125;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:G437G&FGFR3:G549G&FGFR3:G549sra&FGFR3:G550G&FGFR3:G550sra&FGFR3:G551G&FGFR3:G551sra;CSQ_CADD_PHRED=11.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-100:0.2397:1,3,0,3,1,1,19,25,20,21,10,16:100:100 +4 1807894 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/18;CSQ_INTRON=.;CSQ_Feature=NM_000142.5;CSQ_HGVSc=NM_000142.5:c.1953G>A;CSQ_HGVSp=NP_000133.1:p.Thr651%3D;CSQ_HGVSg=4:g.1807894G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=873164;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma¬_specified¬_provided;CSQ_gnomADg_AC=29696;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.960414;CSQ_gnomADe_AC=242436;CSQ_gnomADe_AN=244872;CSQ_gnomADe_AF=0.990052;CSQ_gnomADe_Hom=120148;CSQ_COSMICcMuts=COSV99600161&COSV99600161&COSV99600161&COSV99600161&COSV99600161&COSV99600161;CSQ_COSMICncMuts=COSV99600161&COSV99600161&COSV99600161;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:T539T&FGFR3:T651T&FGFR3:T652T&FGFR3:T653T;CSQ_CADD_PHRED=3.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,163:163:1:65:-100:0.1093:24,52,19,17,18,33,24,52,19,17,18,33:100:100 +4 1807894 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/18;CSQ_INTRON=.;CSQ_Feature=NM_001163213.2;CSQ_HGVSc=NM_001163213.2:c.1959G>A;CSQ_HGVSp=NP_001156685.1:p.Thr653%3D;CSQ_HGVSg=4:g.1807894G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=873164;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma¬_specified¬_provided;CSQ_gnomADg_AC=29696;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.960414;CSQ_gnomADe_AC=242436;CSQ_gnomADe_AN=244872;CSQ_gnomADe_AF=0.990052;CSQ_gnomADe_Hom=120148;CSQ_COSMICcMuts=COSV99600161&COSV99600161&COSV99600161&COSV99600161&COSV99600161&COSV99600161;CSQ_COSMICncMuts=COSV99600161&COSV99600161&COSV99600161;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:T539T&FGFR3:T651T&FGFR3:T652T&FGFR3:T653T;CSQ_CADD_PHRED=3.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,163:163:1:65:-100:0.1093:24,52,19,17,18,33,24,52,19,17,18,33:100:100 +4 1807894 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=FGFR3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_022965.4;CSQ_HGVSc=NM_022965.4:c.1617G>A;CSQ_HGVSp=NP_075254.1:p.Thr539%3D;CSQ_HGVSg=4:g.1807894G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=873164;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma¬_specified¬_provided;CSQ_gnomADg_AC=29696;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.960414;CSQ_gnomADe_AC=242436;CSQ_gnomADe_AN=244872;CSQ_gnomADe_AF=0.990052;CSQ_gnomADe_Hom=120148;CSQ_COSMICcMuts=COSV99600161&COSV99600161&COSV99600161&COSV99600161&COSV99600161&COSV99600161;CSQ_COSMICncMuts=COSV99600161&COSV99600161&COSV99600161;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR3:T539T&FGFR3:T651T&FGFR3:T652T&FGFR3:T653T;CSQ_CADD_PHRED=3.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,163:163:1:65:-100:0.1093:24,52,19,17,18,33,24,52,19,17,18,33:100:100 +4 20544184 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=SLIT2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/37;CSQ_INTRON=.;CSQ_Feature=NM_001289135.3;CSQ_HGVSc=NM_001289135.3:c.2199C>T;CSQ_HGVSp=NP_001276064.1:p.Val733%3D;CSQ_HGVSg=4:g.20544184C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1661466;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8459;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.273789;CSQ_gnomADe_AC=58667;CSQ_gnomADe_AN=246074;CSQ_gnomADe_AF=0.238412;CSQ_gnomADe_Hom=8138;CSQ_COSMICcMuts=COSV56563466&COSV56563466&COSV56563466&COSV56563466;CSQ_COSMICncMuts=COSV56563466&COSV56563466;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SLIT2:V729V&SLIT2:V733V&SLIT2:V737V;CSQ_CADD_PHRED=0.283 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,59:133:0.44361:65:-100:0.0952:6,18,9,9,5,12,16,40,13,27,14,23:100:100 +4 20544184 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=SLIT2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/37;CSQ_INTRON=.;CSQ_Feature=NM_004787.4;CSQ_HGVSc=NM_004787.4:c.2211C>T;CSQ_HGVSp=NP_004778.1:p.Val737%3D;CSQ_HGVSg=4:g.20544184C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1661466;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8459;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.273789;CSQ_gnomADe_AC=58667;CSQ_gnomADe_AN=246074;CSQ_gnomADe_AF=0.238412;CSQ_gnomADe_Hom=8138;CSQ_COSMICcMuts=COSV56563466&COSV56563466&COSV56563466&COSV56563466;CSQ_COSMICncMuts=COSV56563466&COSV56563466;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SLIT2:V729V&SLIT2:V733V&SLIT2:V737V;CSQ_CADD_PHRED=0.283 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,59:133:0.44361:65:-100:0.0952:6,18,9,9,5,12,16,40,13,27,14,23:100:100 +4 24534687 . T C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=DHX15;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_001358.3;CSQ_HGVSc=NM_001358.3:c.1910-10A>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.24534687T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7062;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.228366;CSQ_gnomADe_AC=64380;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=0.26155;CSQ_gnomADe_Hom=9571;CSQ_COSMICcMuts=COSV61025658;CSQ_COSMICncMuts=COSV61025658&COSV61025658&COSV61025658&COSV61025658;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DHX15:N637int&DHX15:N637inta;CSQ_CADD_PHRED=12.11 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,43:120:0.35833:65:-100:0.1489:5,13,5,8,2,10,16,45,10,15,8,26:100:100 +4 55127448 . G A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.236G>A;CSQ_HGVSp=NP_006197.1:p.Gly79Asp;CSQ_HGVSg=4:g.55127448G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41797;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gastrointestinal_stromal_tumor&Idiopathic_hypereosinophilic_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=283;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.00913434;CSQ_gnomADe_AC=2191;CSQ_gnomADe_AN=246136;CSQ_gnomADe_AF=0.00890158;CSQ_gnomADe_Hom=15;CSQ_COSMICcMuts=COSV57267390&COSV57267390&COSV57267390;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.308;CSQ_Mastermind_MMID3=PDGFRA:G104D&PDGFRA:G79D&PDGFRA:G92D;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-100:0.1728:1,1,0,1,3,0,30,40,8,25,12,19:64.789:100 +4 55127494 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.282C>T;CSQ_HGVSp=NP_006197.1:p.His94%3D;CSQ_HGVSg=4:g.55127494C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1796566;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57265306&COSV57265306&COSV57265306;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:H107H&PDGFRA:H119H&PDGFRA:H94H;CSQ_CADD_PHRED=10.28 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,12:129:0.09302:65:-100:0.1457:3,4,1,0,1,3,22,42,10,25,11,19:100:100 +4 55130078 . T C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.612T>C;CSQ_HGVSp=NP_006197.1:p.Asn204%3D;CSQ_HGVSg=4:g.55130078T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259955;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gastrointestinal_stromal_tumor&Idiopathic_hypereosinophilic_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5182;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.167735;CSQ_gnomADe_AC=45497;CSQ_gnomADe_AN=245320;CSQ_gnomADe_AF=0.18546;CSQ_gnomADe_Hom=5749;CSQ_COSMICcMuts=COSV57264195&COSV57264195&COSV57264195;CSQ_COSMICncMuts=COSV57264195&COSV57264195&COSV57264195&COSV57264195;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:N204N&PDGFRA:N217N&PDGFRA:N229N;CSQ_CADD_PHRED=4.066 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,8:134:0.0597:65:-100:0.1625:3,1,0,1,1,2,38,39,6,15,7,29:100:100 +4 55133726 . T G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.939T>G;CSQ_HGVSp=NP_006197.1:p.Gly313%3D;CSQ_HGVSg=4:g.55133726T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259956;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gastrointestinal_stromal_tumor&Idiopathic_hypereosinophilic_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5156;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.166861;CSQ_gnomADe_AC=45265;CSQ_gnomADe_AN=245886;CSQ_gnomADe_AF=0.184089;CSQ_gnomADe_Hom=5712;CSQ_COSMICcMuts=COSV57264201&COSV57264201;CSQ_COSMICncMuts=COSV57264201&COSV57264201&COSV57264201&COSV57264201;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.08;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:G313G&PDGFRA:G326G&PDGFRA:G338G;CSQ_CADD_PHRED=3.545 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,17:148:0.11486:65:-100:0.1732:3,5,4,2,1,2,28,54,19,20,5,22:100:100 +4 55138600 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.1277G>A;CSQ_HGVSp=NP_006197.1:p.Gly426Asp;CSQ_HGVSg=4:g.55138600G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=0.368;CSQ_Mastermind_MMID3=PDGFRA:G426D&PDGFRA:G439D&PDGFRA:G451D;CSQ_CADD_PHRED=22.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-97.8929:0.2037:3,2,0,0,0,3,18,49,7,20,11,24:100:100 +4 55139771 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.1432T>C;CSQ_HGVSp=NP_006197.1:p.Ser478Pro;CSQ_HGVSg=4:g.55139771T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41794;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Likely_pathogenic(1)&Benign(6);CSQ_ClinVar_CLNDN=Gastrointestinal_stromal_tumor&Idiopathic_hypereosinophilic_syndrome&Hereditary_cancer-predisposing_syndrome&Myeloproliferative_neoplasm&_unclassifiable¬_specified¬_provided;CSQ_gnomADg_AC=4549;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.147293;CSQ_gnomADe_AC=37811;CSQ_gnomADe_AN=245800;CSQ_gnomADe_AF=0.153828;CSQ_gnomADe_Hom=3594;CSQ_COSMICcMuts=COSV57266881&COSV57266881;CSQ_COSMICncMuts=COSV57266881&COSV57266881;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=0.088;CSQ_Mastermind_MMID3=PDGFRA:S478P&PDGFRA:S491P&PDGFRA:S503P;CSQ_CADD_PHRED=9.062 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,15:156:0.09615:65:-100:0.1136:6,4,2,0,1,2,38,54,13,27,3,21:100:100 +4 55141055 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.1701A>G;CSQ_HGVSp=NP_006197.1:p.Pro567%3D;CSQ_HGVSg=4:g.55141055A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259949;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Gastrointestinal_stromal_tumor&Carcinoma_of_colon&Idiopathic_hypereosinophilic_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=29964;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.967704;CSQ_gnomADe_AC=243535;CSQ_gnomADe_AN=245926;CSQ_gnomADe_AF=0.990278;CSQ_gnomADe_Hom=120667;CSQ_COSMICcMuts=COSV99955338&COSV99955338;CSQ_COSMICncMuts=COSV99955338&COSV99955338;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:P567P&PDGFRA:P580P&PDGFRA:P592P;CSQ_CADD_PHRED=0.047 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,145:145:1:65:-100:0.1212:26,47,12,32,12,16,26,47,12,32,12,16:100:100 +4 55143286 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/22;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.1787-269G>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.55143286G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274267;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=13234;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.429202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:G596int&PDGFRA:G596inta&PDGFRA:G609int&PDGFRA:G609inta&PDGFRA:G621int&PDGFRA:G621inta;CSQ_CADD_PHRED=0.341 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,38:119:0.31933:65:-100:0.162:4,12,7,3,6,6,17,31,19,19,15,18:100:100 +4 55143321 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/22;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.1787-234C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.55143321C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1292746;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4467;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.144498;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57265172&COSV57265172;CSQ_COSMICncMuts=COSV57265172;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:G596int&PDGFRA:G596inta&PDGFRA:G609int&PDGFRA:G609inta&PDGFRA:G621int&PDGFRA:G621inta;CSQ_CADD_PHRED=6.813 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,34:144:0.23611:65:-100:0.1724:3,11,3,6,2,9,15,44,14,31,14,26:100:100 +4 55143577 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.1809G>A;CSQ_HGVSp=NP_006197.1:p.Ala603%3D;CSQ_HGVSg=4:g.55143577G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259950;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gastrointestinal_stromal_tumor&Idiopathic_hypereosinophilic_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5140;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.166429;CSQ_gnomADe_AC=39111;CSQ_gnomADe_AN=246242;CSQ_gnomADe_AF=0.158832;CSQ_gnomADe_Hom=4072;CSQ_COSMICcMuts=COSV57265177&COSV57265177;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:A603A&PDGFRA:A616A&PDGFRA:A628A;CSQ_CADD_PHRED=0.505 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,32:155:0.20645:65:-100:0.153:5,11,3,6,1,6,25,47,15,26,11,31:100:100 +4 55152040 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.2472C>T;CSQ_HGVSp=NP_006197.1:p.Val824%3D;CSQ_HGVSg=4:g.55152040C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259951;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gastrointestinal_stromal_tumor&Idiopathic_hypereosinophilic_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=6001;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.194069;CSQ_gnomADe_AC=44900;CSQ_gnomADe_AN=246116;CSQ_gnomADe_AF=0.182434;CSQ_gnomADe_Hom=4917;CSQ_COSMICcMuts=COSV57264143&COSV57264143;CSQ_COSMICncMuts=COSV57264143&COSV57264143;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:V824V&PDGFRA:V837V&PDGFRA:V849V;CSQ_CADD_PHRED=11.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,30:150:0.2:65:-100:0.1429:5,8,2,8,1,6,22,61,13,25,6,23:100:100 +4 55161391 . T C 100 PASS DP=154;CSQ_Allele=C;CSQ_SYMBOL=PDGFRA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_006206.6;CSQ_HGVSc=NM_006206.6:c.3222T>C;CSQ_HGVSp=NP_006197.1:p.Asp1074%3D;CSQ_HGVSg=4:g.55161391T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259953;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gastrointestinal_stromal_tumor&Idiopathic_hypereosinophilic_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=30904;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.997998;CSQ_gnomADe_AC=245847;CSQ_gnomADe_AN=246036;CSQ_gnomADe_AF=0.999232;CSQ_gnomADe_Hom=122830;CSQ_COSMICcMuts=COSV99955343&COSV99955343;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRA:D1074D&PDGFRA:D1087D&PDGFRA:D1099D;CSQ_CADD_PHRED=8.990 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,154:154:1:65:-100:0.1492:23,57,17,22,15,20,23,57,17,22,15,20:100:100 +4 55540403 . T TG 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=KIT;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/20;CSQ_Feature=NM_000222.3;CSQ_HGVSc=NM_000222.3:c.67+16159dup;CSQ_HGVSp=.;CSQ_HGVSg=4:g.55540407dup;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,13:132:0.09848:65:-100:0:2,2,0,4,2,3,14,43,5,32,8,29:100:100 +4 55561862 . G T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=KIT;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/21;CSQ_INTRON=.;CSQ_Feature=NM_000222.3;CSQ_HGVSc=NM_000222.3:c.252G>T;CSQ_HGVSp=NP_000213.1:p.Thr84%3D;CSQ_HGVSg=4:g.55561862G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=220764;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Partial_albinism&Mastocytosis&Gastrointestinal_stromal_tumor&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=551;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0177914;CSQ_gnomADe_AC=1232;CSQ_gnomADe_AN=246050;CSQ_gnomADe_AF=0.00500711;CSQ_gnomADe_Hom=33;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KIT:T84T;CSQ_CADD_PHRED=0.020 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,16:156:0.10256:65:-100:0.1285:0,9,0,0,2,5,17,57,15,26,11,30:100:100 +4 55573693 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=KIT;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/20;CSQ_Feature=NM_000222.3;CSQ_HGVSc=NM_000222.3:c.1115+240G>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.55573693G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1222431;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11790;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.381726;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KIT:R372int&KIT:R372intd&KIT:R373int&KIT:R373intd;CSQ_CADD_PHRED=1.584 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,35:126:0.27778:65:-100:0.1127:4,11,3,6,3,8,18,43,13,19,8,25:100:100 +4 55575673 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=KIT;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_000222.3;CSQ_HGVSc=NM_000222.3:c.1199A>G;CSQ_HGVSp=NP_000213.1:p.Asn400Ser;CSQ_HGVSg=4:g.55575673A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41597;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gastrointestinal_stromal_tumor&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=67;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00216296;CSQ_gnomADe_AC=130;CSQ_gnomADe_AN=246232;CSQ_gnomADe_AF=0.000527957;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=0.059;CSQ_Mastermind_MMID3=KIT:N400S&KIT:N401S;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,10:134:0.07463:65:-100:0.0946:1,5,2,0,0,2,25,46,13,15,13,22:100:100 +4 55580904 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=KIT;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/20;CSQ_Feature=NM_000222.3;CSQ_HGVSc=NM_000222.3:c.1231+5199C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.55580904C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29805;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.962259;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,137:137:1:65:-100:0.1046:25,58,7,14,7,26,25,58,7,14,7,26:100:100 +4 55602765 . G C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=KIT;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/21;CSQ_INTRON=.;CSQ_Feature=NM_000222.3;CSQ_HGVSc=NM_000222.3:c.2586G>C;CSQ_HGVSp=NP_000213.1:p.Leu862%3D;CSQ_HGVSg=4:g.55602765G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255572;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Partial_albinism&Mastocytosis&Gastrointestinal_stromal_tumor&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4826;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.15606;CSQ_gnomADe_AC=26425;CSQ_gnomADe_AN=246128;CSQ_gnomADe_AF=0.107363;CSQ_gnomADe_Hom=1939;CSQ_COSMICcMuts=COSV55388515;CSQ_COSMICncMuts=COSV55388515;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KIT:L857L&KIT:L858L&KIT:L859L&KIT:L861L&KIT:L862L&KIT:L863L;CSQ_CADD_PHRED=5.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,21:131:0.16031:65:-100:0.1325:5,6,0,8,1,1,9,49,5,33,12,23:100:100 +4 55604872 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=KIT;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_000222.3;CSQ_HGVSc=NM_000222.3:c.*149C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.55604872C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=348957;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Partial_albinism&Mastocytosis&Gastrointestinal_stromal_tumor¬_provided;CSQ_gnomADg_AC=3746;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.121073;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KIT:3UTR;CSQ_CADD_PHRED=0.020 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,19:120:0.15833:65:-100:0.1045:3,6,2,5,1,2,19,44,11,20,9,17:100:100 +4 55956130 . T A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=KDR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_002253.3;CSQ_HGVSc=NM_002253.3:c.3185A>T;CSQ_HGVSp=NP_002244.1:p.Lys1062Ile;CSQ_HGVSg=4:g.55956130T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=0.807;CSQ_Mastermind_MMID3=KDR:K1062I;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,8:135:0.05926:65:-46.6116:0.1867:1,2,0,2,0,3,24,55,10,15,8,23:89.772:100 +4 55970963 . A G 100 PASS DP=164;CSQ_Allele=G;CSQ_SYMBOL=KDR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/30;CSQ_INTRON=.;CSQ_Feature=NM_002253.3;CSQ_HGVSc=NM_002253.3:c.1834T>C;CSQ_HGVSp=NP_002244.1:p.Leu612%3D;CSQ_HGVSg=4:g.55970963A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=695607;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=202;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0065313;CSQ_gnomADe_AC=556;CSQ_gnomADe_AN=245766;CSQ_gnomADe_AF=0.00226231;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55777662;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KDR:L612L;CSQ_CADD_PHRED=4.147 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,14:164:0.08537:65:-100:0.1546:5,4,1,2,0,2,30,45,16,35,14,24:100:100 +4 55972974 . T A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=KDR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/30;CSQ_INTRON=.;CSQ_Feature=NM_002253.3;CSQ_HGVSc=NM_002253.3:c.1416A>T;CSQ_HGVSp=NP_002244.1:p.Gln472His;CSQ_HGVSg=4:g.55972974T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134603;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=6848;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.221332;CSQ_gnomADe_AC=54567;CSQ_gnomADe_AN=245614;CSQ_gnomADe_AF=0.222166;CSQ_gnomADe_Hom=7252;CSQ_COSMICcMuts=COSV55758724;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.170;CSQ_Mastermind_MMID3=KDR:Q472H;CSQ_CADD_PHRED=2.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,27:113:0.23894:65:-100:0.2207:2,13,2,2,3,5,18,40,8,17,10,20:100:100 +4 55979558 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=KDR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/30;CSQ_INTRON=.;CSQ_Feature=NM_002253.3;CSQ_HGVSc=NM_002253.3:c.889G>A;CSQ_HGVSp=NP_002244.1:p.Val297Ile;CSQ_HGVSg=4:g.55979558C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134616;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=4354;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.140633;CSQ_gnomADe_AC=25800;CSQ_gnomADe_AN=246124;CSQ_gnomADe_AF=0.104825;CSQ_gnomADe_Hom=1673;CSQ_COSMICcMuts=COSV55758732;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.161;CSQ_Mastermind_MMID3=KDR:V297I;CSQ_CADD_PHRED=23.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,15:106:0.14151:65:-100:0.1587:1,5,0,5,1,3,14,48,8,14,7,15:100:100 +4 66189835 . C T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/18;CSQ_INTRON=.;CSQ_Feature=NM_001281765.3;CSQ_HGVSc=NM_001281765.3:c.3114G>A;CSQ_HGVSp=NP_001268694.1:p.Leu1038%3D;CSQ_HGVSg=4:g.66189835C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=342;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0110859;CSQ_gnomADe_AC=2716;CSQ_gnomADe_AN=243446;CSQ_gnomADe_AF=0.0111565;CSQ_gnomADe_Hom=23;CSQ_COSMICcMuts=COSV56651521&COSV56651521&COSV56651521;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:L1015L&EPHA5:L1016L&EPHA5:L1037L&EPHA5:L1038L&EPHA5:L969L;CSQ_CADD_PHRED=7.269 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,12:105:0.11429:65:-100:0.1732:0,5,0,2,4,1,19,31,5,18,9,23:100:100 +4 66189835 . C T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001281766.3;CSQ_HGVSc=NM_001281766.3:c.3048G>A;CSQ_HGVSp=NP_001268695.1:p.Leu1016%3D;CSQ_HGVSg=4:g.66189835C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=342;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0110859;CSQ_gnomADe_AC=2716;CSQ_gnomADe_AN=243446;CSQ_gnomADe_AF=0.0111565;CSQ_gnomADe_Hom=23;CSQ_COSMICcMuts=COSV56651521&COSV56651521&COSV56651521;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:L1015L&EPHA5:L1016L&EPHA5:L1037L&EPHA5:L1038L&EPHA5:L969L;CSQ_CADD_PHRED=7.269 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,12:105:0.11429:65:-100:0.1732:0,5,0,2,4,1,19,31,5,18,9,23:100:100 +4 66189835 . C T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/18;CSQ_INTRON=.;CSQ_Feature=NM_004439.8;CSQ_HGVSc=NM_004439.8:c.3111G>A;CSQ_HGVSp=NP_004430.4:p.Leu1037%3D;CSQ_HGVSg=4:g.66189835C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=342;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0110859;CSQ_gnomADe_AC=2716;CSQ_gnomADe_AN=243446;CSQ_gnomADe_AF=0.0111565;CSQ_gnomADe_Hom=23;CSQ_COSMICcMuts=COSV56651521&COSV56651521&COSV56651521;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:L1015L&EPHA5:L1016L&EPHA5:L1037L&EPHA5:L1038L&EPHA5:L969L;CSQ_CADD_PHRED=7.269 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,12:105:0.11429:65:-100:0.1732:0,5,0,2,4,1,19,31,5,18,9,23:100:100 +4 66197804 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/18;CSQ_INTRON=.;CSQ_Feature=NM_001281765.3;CSQ_HGVSc=NM_001281765.3:c.2898G>A;CSQ_HGVSp=NP_001268694.1:p.Gly966%3D;CSQ_HGVSg=4:g.66197804C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9180;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.297704;CSQ_gnomADe_AC=84521;CSQ_gnomADe_AN=244356;CSQ_gnomADe_AF=0.345893;CSQ_gnomADe_Hom=15317;CSQ_COSMICcMuts=COSV56661916&COSV56661916&COSV56661916&COSV56661916;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:G897G&EPHA5:G943G&EPHA5:G944G&EPHA5:G965G&EPHA5:G966G;CSQ_CADD_PHRED=10.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,19:112:0.16964:65:-100:0.125:5,4,3,4,2,1,16,26,15,18,17,20:100:100 +4 66197804 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/17;CSQ_INTRON=.;CSQ_Feature=NM_001281766.3;CSQ_HGVSc=NM_001281766.3:c.2832G>A;CSQ_HGVSp=NP_001268695.1:p.Gly944%3D;CSQ_HGVSg=4:g.66197804C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9180;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.297704;CSQ_gnomADe_AC=84521;CSQ_gnomADe_AN=244356;CSQ_gnomADe_AF=0.345893;CSQ_gnomADe_Hom=15317;CSQ_COSMICcMuts=COSV56661916&COSV56661916&COSV56661916&COSV56661916;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:G897G&EPHA5:G943G&EPHA5:G944G&EPHA5:G965G&EPHA5:G966G;CSQ_CADD_PHRED=10.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,19:112:0.16964:65:-100:0.125:5,4,3,4,2,1,16,26,15,18,17,20:100:100 +4 66197804 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001281767.3;CSQ_HGVSc=NM_001281767.3:c.2898G>A;CSQ_HGVSp=NP_001268696.1:p.Gly966%3D;CSQ_HGVSg=4:g.66197804C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9180;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.297704;CSQ_gnomADe_AC=84521;CSQ_gnomADe_AN=244356;CSQ_gnomADe_AF=0.345893;CSQ_gnomADe_Hom=15317;CSQ_COSMICcMuts=COSV56661916&COSV56661916&COSV56661916&COSV56661916;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:G897G&EPHA5:G943G&EPHA5:G944G&EPHA5:G965G&EPHA5:G966G;CSQ_CADD_PHRED=10.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,19:112:0.16964:65:-100:0.125:5,4,3,4,2,1,16,26,15,18,17,20:100:100 +4 66197804 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/18;CSQ_INTRON=.;CSQ_Feature=NM_004439.8;CSQ_HGVSc=NM_004439.8:c.2895G>A;CSQ_HGVSp=NP_004430.4:p.Gly965%3D;CSQ_HGVSg=4:g.66197804C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9180;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.297704;CSQ_gnomADe_AC=84521;CSQ_gnomADe_AN=244356;CSQ_gnomADe_AF=0.345893;CSQ_gnomADe_Hom=15317;CSQ_COSMICcMuts=COSV56661916&COSV56661916&COSV56661916&COSV56661916;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:G897G&EPHA5:G943G&EPHA5:G944G&EPHA5:G965G&EPHA5:G966G;CSQ_CADD_PHRED=10.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,19:112:0.16964:65:-100:0.125:5,4,3,4,2,1,16,26,15,18,17,20:100:100 +4 66230872 . CT C 100 PASS DP=103;CSQ_Allele=-;CSQ_SYMBOL=EPHA5;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/18;CSQ_INTRON=.;CSQ_Feature=NM_001281765.3;CSQ_HGVSc=NM_001281765.3:c.2101del;CSQ_HGVSp=NP_001268694.1:p.Arg701GlufsTer12;CSQ_HGVSg=4:g.66230877del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56638866&COSV56638866&COSV56638866&COSV56638866;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,8:103:0.07767:65:-100:0:2,3,1,0,0,2,18,42,5,13,8,17:100:100 +4 66230872 . CT C 100 PASS DP=103;CSQ_Allele=-;CSQ_SYMBOL=EPHA5;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=11/17;CSQ_INTRON=.;CSQ_Feature=NM_001281766.3;CSQ_HGVSc=NM_001281766.3:c.2035del;CSQ_HGVSp=NP_001268695.1:p.Arg679GlufsTer12;CSQ_HGVSg=4:g.66230877del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56638866&COSV56638866&COSV56638866&COSV56638866;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,8:103:0.07767:65:-100:0:2,3,1,0,0,2,18,42,5,13,8,17:100:100 +4 66230872 . CT C 100 PASS DP=103;CSQ_Allele=-;CSQ_SYMBOL=EPHA5;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/17;CSQ_INTRON=.;CSQ_Feature=NM_001281767.3;CSQ_HGVSc=NM_001281767.3:c.2101del;CSQ_HGVSp=NP_001268696.1:p.Arg701GlufsTer12;CSQ_HGVSg=4:g.66230877del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56638866&COSV56638866&COSV56638866&COSV56638866;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,8:103:0.07767:65:-100:0:2,3,1,0,0,2,18,42,5,13,8,17:100:100 +4 66230872 . CT C 100 PASS DP=103;CSQ_Allele=-;CSQ_SYMBOL=EPHA5;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/18;CSQ_INTRON=.;CSQ_Feature=NM_004439.8;CSQ_HGVSc=NM_004439.8:c.2098del;CSQ_HGVSp=NP_004430.4:p.Arg700GlufsTer12;CSQ_HGVSg=4:g.66230877del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56638866&COSV56638866&COSV56638866&COSV56638866;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,8:103:0.07767:65:-100:0:2,3,1,0,0,2,18,42,5,13,8,17:100:100 +4 66356198 . A C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/18;CSQ_INTRON=.;CSQ_Feature=NM_001281765.3;CSQ_HGVSc=NM_001281765.3:c.1299T>G;CSQ_HGVSp=NP_001268694.1:p.Ala433%3D;CSQ_HGVSg=4:g.66356198A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56633374&COSV56633374&COSV56633374&COSV56633374;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-100:0.1338:3,1,1,0,0,2,21,56,12,18,6,23:68.237:100 +4 66356198 . A C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/17;CSQ_INTRON=.;CSQ_Feature=NM_001281766.3;CSQ_HGVSc=NM_001281766.3:c.1299T>G;CSQ_HGVSp=NP_001268695.1:p.Ala433%3D;CSQ_HGVSg=4:g.66356198A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56633374&COSV56633374&COSV56633374&COSV56633374;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-100:0.1338:3,1,1,0,0,2,21,56,12,18,6,23:68.237:100 +4 66356198 . A C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/17;CSQ_INTRON=.;CSQ_Feature=NM_001281767.3;CSQ_HGVSc=NM_001281767.3:c.1299T>G;CSQ_HGVSp=NP_001268696.1:p.Ala433%3D;CSQ_HGVSg=4:g.66356198A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56633374&COSV56633374&COSV56633374&COSV56633374;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-100:0.1338:3,1,1,0,0,2,21,56,12,18,6,23:68.237:100 +4 66356198 . A C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/18;CSQ_INTRON=.;CSQ_Feature=NM_004439.8;CSQ_HGVSc=NM_004439.8:c.1299T>G;CSQ_HGVSp=NP_004430.4:p.Ala433%3D;CSQ_HGVSg=4:g.66356198A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56633374&COSV56633374&COSV56633374&COSV56633374;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-100:0.1338:3,1,1,0,0,2,21,56,12,18,6,23:68.237:100 +4 66535284 . G A 100 PASS DP=66;CSQ_Allele=A;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/18;CSQ_INTRON=.;CSQ_Feature=NM_001281765.3;CSQ_HGVSc=NM_001281765.3:c.177C>T;CSQ_HGVSp=NP_001268694.1:p.Asn59%3D;CSQ_HGVSg=4:g.66535284G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5828;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.188779;CSQ_gnomADe_AC=21580;CSQ_gnomADe_AN=118208;CSQ_gnomADe_AF=0.18256;CSQ_gnomADe_Hom=2364;CSQ_COSMICcMuts=COSV56677863&COSV56677863&COSV56677863&COSV56677863;CSQ_COSMICncMuts=COSV56677863&COSV56677863&COSV56677863&COSV56677863;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:N59N;CSQ_CADD_PHRED=13.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,16:66:0.24242:65:-100:0.2667:2,1,1,6,1,5,12,14,4,13,8,15:100:100 +4 66535284 . G A 100 PASS DP=66;CSQ_Allele=A;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/17;CSQ_INTRON=.;CSQ_Feature=NM_001281766.3;CSQ_HGVSc=NM_001281766.3:c.177C>T;CSQ_HGVSp=NP_001268695.1:p.Asn59%3D;CSQ_HGVSg=4:g.66535284G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5828;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.188779;CSQ_gnomADe_AC=21580;CSQ_gnomADe_AN=118208;CSQ_gnomADe_AF=0.18256;CSQ_gnomADe_Hom=2364;CSQ_COSMICcMuts=COSV56677863&COSV56677863&COSV56677863&COSV56677863;CSQ_COSMICncMuts=COSV56677863&COSV56677863&COSV56677863&COSV56677863;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:N59N;CSQ_CADD_PHRED=13.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,16:66:0.24242:65:-100:0.2667:2,1,1,6,1,5,12,14,4,13,8,15:100:100 +4 66535284 . G A 100 PASS DP=66;CSQ_Allele=A;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/17;CSQ_INTRON=.;CSQ_Feature=NM_001281767.3;CSQ_HGVSc=NM_001281767.3:c.177C>T;CSQ_HGVSp=NP_001268696.1:p.Asn59%3D;CSQ_HGVSg=4:g.66535284G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5828;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.188779;CSQ_gnomADe_AC=21580;CSQ_gnomADe_AN=118208;CSQ_gnomADe_AF=0.18256;CSQ_gnomADe_Hom=2364;CSQ_COSMICcMuts=COSV56677863&COSV56677863&COSV56677863&COSV56677863;CSQ_COSMICncMuts=COSV56677863&COSV56677863&COSV56677863&COSV56677863;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:N59N;CSQ_CADD_PHRED=13.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,16:66:0.24242:65:-100:0.2667:2,1,1,6,1,5,12,14,4,13,8,15:100:100 +4 66535284 . G A 100 PASS DP=66;CSQ_Allele=A;CSQ_SYMBOL=EPHA5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/18;CSQ_INTRON=.;CSQ_Feature=NM_004439.8;CSQ_HGVSc=NM_004439.8:c.177C>T;CSQ_HGVSp=NP_004430.4:p.Asn59%3D;CSQ_HGVSg=4:g.66535284G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5828;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.188779;CSQ_gnomADe_AC=21580;CSQ_gnomADe_AN=118208;CSQ_gnomADe_AF=0.18256;CSQ_gnomADe_Hom=2364;CSQ_COSMICcMuts=COSV56677863&COSV56677863&COSV56677863&COSV56677863;CSQ_COSMICncMuts=COSV56677863&COSV56677863&COSV56677863&COSV56677863;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA5:N59N;CSQ_CADD_PHRED=13.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,16:66:0.24242:65:-100:0.2667:2,1,1,6,1,5,12,14,4,13,8,15:100:100 +4 66535310 . G A 100 PASS DP=71;CSQ_Allele=A;CSQ_SYMBOL=EPHA5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/18;CSQ_INTRON=.;CSQ_Feature=NM_001281765.3;CSQ_HGVSc=NM_001281765.3:c.151C>T;CSQ_HGVSp=NP_001268694.1:p.Arg51Trp;CSQ_HGVSg=4:g.66535310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56651926&COSV56651926&COSV56651926&COSV56651926;CSQ_COSMICncMuts=COSV56651926&COSV56651926&COSV56651926&COSV56651926;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.274;CSQ_Mastermind_MMID3=EPHA5:R51W;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,5:71:0.07042:65:-48.4679:0.2111:1,0,0,3,0,1,10,18,7,14,10,12:63.908:100 +4 66535310 . G A 100 PASS DP=71;CSQ_Allele=A;CSQ_SYMBOL=EPHA5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/17;CSQ_INTRON=.;CSQ_Feature=NM_001281766.3;CSQ_HGVSc=NM_001281766.3:c.151C>T;CSQ_HGVSp=NP_001268695.1:p.Arg51Trp;CSQ_HGVSg=4:g.66535310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56651926&COSV56651926&COSV56651926&COSV56651926;CSQ_COSMICncMuts=COSV56651926&COSV56651926&COSV56651926&COSV56651926;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.274;CSQ_Mastermind_MMID3=EPHA5:R51W;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,5:71:0.07042:65:-48.4679:0.2111:1,0,0,3,0,1,10,18,7,14,10,12:63.908:100 +4 66535310 . G A 100 PASS DP=71;CSQ_Allele=A;CSQ_SYMBOL=EPHA5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/17;CSQ_INTRON=.;CSQ_Feature=NM_001281767.3;CSQ_HGVSc=NM_001281767.3:c.151C>T;CSQ_HGVSp=NP_001268696.1:p.Arg51Trp;CSQ_HGVSg=4:g.66535310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56651926&COSV56651926&COSV56651926&COSV56651926;CSQ_COSMICncMuts=COSV56651926&COSV56651926&COSV56651926&COSV56651926;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.274;CSQ_Mastermind_MMID3=EPHA5:R51W;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,5:71:0.07042:65:-48.4679:0.2111:1,0,0,3,0,1,10,18,7,14,10,12:63.908:100 +4 66535310 . G A 100 PASS DP=71;CSQ_Allele=A;CSQ_SYMBOL=EPHA5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/18;CSQ_INTRON=.;CSQ_Feature=NM_004439.8;CSQ_HGVSc=NM_004439.8:c.151C>T;CSQ_HGVSp=NP_004430.4:p.Arg51Trp;CSQ_HGVSg=4:g.66535310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56651926&COSV56651926&COSV56651926&COSV56651926;CSQ_COSMICncMuts=COSV56651926&COSV56651926&COSV56651926&COSV56651926;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.274;CSQ_Mastermind_MMID3=EPHA5:R51W;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,5:71:0.07042:65:-48.4679:0.2111:1,0,0,3,0,1,10,18,7,14,10,12:63.908:100 +4 81186375 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=FGF5;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81186375T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1679;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0542313;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,12:125:0.096:65:-100:0.1197:2,7,0,2,0,1,22,50,8,16,7,22:100:100 +4 81186375 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=FGF5;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004464.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81186375T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1679;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0542313;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,12:125:0.096:65:-100:0.1197:2,7,0,2,0,1,22,50,8,16,7,22:100:100 +4 81186480 . G T 100 PASS DP=81;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81186480G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18143;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.586545;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.725 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:23,58:81:0.71605:65:-100:0.19:7,28,8,4,4,7,10,35,9,8,8,11:100:100 +4 81186480 . G T 100 PASS DP=81;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004464.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81186480G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18143;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.586545;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.725 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:23,58:81:0.71605:65:-100:0.19:7,28,8,4,4,7,10,35,9,8,8,11:100:100 +4 81188138 . A G 100 PASS DP=144;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81188138A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1262;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0407886;CSQ_gnomADe_AC=2606;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=0.0105847;CSQ_gnomADe_Hom=173;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.987 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,14:144:0.09722:65:-100:0.1676:2,4,1,2,1,4,17,55,12,18,16,26:100:100 +4 81188138 . A G 100 PASS DP=144;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.160A>G;CSQ_HGVSp=NP_004455.2:p.Met54Val;CSQ_HGVSg=4:g.81188138A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1262;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0407886;CSQ_gnomADe_AC=2606;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=0.0105847;CSQ_gnomADe_Hom=173;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=0.025;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.987 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,14:144:0.09722:65:-100:0.1676:2,4,1,2,1,4,17,55,12,18,16,26:100:100 +4 81188513 . C A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=FGF5;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81188513C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5237;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.169504;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,24:151:0.15894:65:-100:0.117:3,10,2,5,1,3,13,58,9,29,13,29:100:100 +4 81188513 . C A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.355+180C>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81188513C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5237;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.169504;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,24:151:0.15894:65:-100:0.117:3,10,2,5,1,3,13,58,9,29,13,29:100:100 +4 81189493 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.-304C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81189493C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.140 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,17:146:0.11644:65:-100:0.1098:4,5,1,7,0,0,30,50,8,27,7,24:100:100 +4 81189493 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.355+1160C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81189493C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.140 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,17:146:0.11644:65:-100:0.1098:4,5,1,7,0,0,30,50,8,27,7,24:100:100 +4 81189504 . C G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.-293C>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81189504C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2858;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0923903;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56891139&COSV56891139;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.390 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,32:142:0.22535:65:-100:0.1288:8,9,2,3,2,8,26,48,8,29,6,25:100:100 +4 81189504 . C G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.355+1171C>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81189504C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2858;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0923903;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56891139&COSV56891139;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.390 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,32:142:0.22535:65:-100:0.1288:8,9,2,3,2,8,26,48,8,29,6,25:100:100 +4 81189589 . C T 100 PASS DP=154;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.-208C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81189589C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1632;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0527234;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56890379&COSV56890379;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.745 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,18:154:0.11688:65:-100:0.12:3,7,3,1,0,4,23,55,10,28,15,23:100:100 +4 81189589 . C T 100 PASS DP=154;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.355+1256C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81189589C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1632;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0527234;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56890379&COSV56890379;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.745 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,18:154:0.11688:65:-100:0.12:3,7,3,1,0,4,23,55,10,28,15,23:100:100 +4 81189603 . A C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=FGF5;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.-194A>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81189603A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17759;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.575321;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.510 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,106:151:0.70199:65:-100:0.1221:20,36,8,21,10,11,23,56,10,30,15,17:100:100 +4 81189603 . A C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.355+1270A>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81189603A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17759;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.575321;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.510 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,106:151:0.70199:65:-100:0.1221:20,36,8,21,10,11,23,56,10,30,15,17:100:100 +4 81195367 . T A 100 PASS DP=81;CSQ_Allele=A;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.-74-696T>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81195367T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18125;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.587711;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,61:81:0.75309:65:-100:0.1474:10,22,5,5,10,9,12,32,6,8,11,12:100:100 +4 81195367 . T A 100 PASS DP=81;CSQ_Allele=A;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.356-696T>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81195367T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18125;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.587711;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,61:81:0.75309:65:-100:0.1474:10,22,5,5,10,9,12,32,6,8,11,12:100:100 +4 81202002 . C G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-5477C>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81202002C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=878;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0283793;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.028 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,15:117:0.12821:65:-100:0.1269:4,6,0,2,2,1,20,45,8,17,11,16:100:100 +4 81202002 . C G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-5477C>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81202002C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=878;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0283793;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.028 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,15:117:0.12821:65:-100:0.1269:4,6,0,2,2,1,20,45,8,17,11,16:100:100 +4 81202382 . C T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-5097C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81202382C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7471;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.241921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:S10int&FGF5:S10inta&FGF5:S119int&FGF5:S119inta&FGF5:S153int&FGF5:S153inta;CSQ_CADD_PHRED=2.517 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,47:110:0.42727:65:-100:0.1791:7,20,3,6,8,3,19,40,8,18,16,9:100:100 +4 81202382 . C T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-5097C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81202382C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7471;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.241921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:S10int&FGF5:S10inta&FGF5:S119int&FGF5:S119inta&FGF5:S153int&FGF5:S153inta;CSQ_CADD_PHRED=2.517 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,47:110:0.42727:65:-100:0.1791:7,20,3,6,8,3,19,40,8,18,16,9:100:100 +4 81202398 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-5081T>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81202398T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30242;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.977377;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:S10int&FGF5:S10inta&FGF5:S119int&FGF5:S119inta&FGF5:S153int&FGF5:S153inta;CSQ_CADD_PHRED=3.139 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,112:131:0.85496:65:-100:0.1382:18,35,11,20,16,12,23,41,11,24,18,14:100:100 +4 81202398 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-5081T>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81202398T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30242;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.977377;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:S10int&FGF5:S10inta&FGF5:S119int&FGF5:S119inta&FGF5:S153int&FGF5:S153inta;CSQ_CADD_PHRED=3.139 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,112:131:0.85496:65:-100:0.1382:18,35,11,20,16,12,23,41,11,24,18,14:100:100 +4 81204350 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-3129C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81204350C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1642;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.053067;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.499 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-100:0.125:2,1,0,0,0,4,18,38,7,22,19,22:65.704:100 +4 81204350 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-3129C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81204350C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1642;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.053067;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.499 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-100:0.125:2,1,0,0,0,4,18,38,7,22,19,22:65.704:100 +4 81205174 . T G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-2305T>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81205174T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1808;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0584168;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,14:117:0.11966:65:-100:0.1269:2,2,0,5,2,3,23,27,13,27,9,18:100:100 +4 81205174 . T G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-2305T>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81205174T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1808;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0584168;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,14:117:0.11966:65:-100:0.1269:2,2,0,5,2,3,23,27,13,27,9,18:100:100 +4 81205197 . G T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-2282G>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81205197G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1618;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0522475;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.956 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,19:135:0.14074:65:-100:0.069:1,6,1,6,2,3,21,34,14,33,7,26:100:100 +4 81205197 . G T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-2282G>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81205197G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1618;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0522475;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.956 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,19:135:0.14074:65:-100:0.069:1,6,1,6,2,3,21,34,14,33,7,26:100:100 +4 81205229 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-2250C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81205229C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2930;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0946627;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,38:139:0.27338:65:-100:0.1524:4,9,7,7,5,6,20,40,17,29,13,20:100:100 +4 81205229 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-2250C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81205229C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2930;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0946627;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,38:139:0.27338:65:-100:0.1524:4,9,7,7,5,6,20,40,17,29,13,20:100:100 +4 81206377 . T A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-1102T>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81206377T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18205;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.589082;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:S119int;CSQ_CADD_PHRED=2.373 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,83:123:0.6748:65:-100:0.1633:19,31,7,8,8,10,22,49,8,14,11,19:100:100 +4 81206377 . T A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-1102T>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81206377T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18205;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.589082;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:S119int;CSQ_CADD_PHRED=2.373 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,83:123:0.6748:65:-100:0.1633:19,31,7,8,8,10,22,49,8,14,11,19:100:100 +4 81206898 . TAA T 100 PASS DP=121;CSQ_Allele=-;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.31-579_31-578del;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81206900_81206901del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=158;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00510303;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:S153int&FGF5:S153inta;CSQ_CADD_PHRED=11.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,8:121:0.06612:65:-100:0:2,3,0,0,1,2,23,40,10,24,8,16:100:100 +4 81206898 . TAA T 100 PASS DP=121;CSQ_Allele=-;CSQ_SYMBOL=FGF5;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.460-579_460-578del;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81206900_81206901del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=158;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00510303;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:S153int&FGF5:S153inta;CSQ_CADD_PHRED=11.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,8:121:0.06612:65:-100:0:2,3,0,0,1,2,23,40,10,24,8,16:100:100 +4 81207963 . A G 100 PASS DP=103;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.*137A>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81207963A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10664;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.345382;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:3UTR;CSQ_CADD_PHRED=7.053 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,33:103:0.32039:65:-100:0.1953:5,10,3,5,4,6,11,31,12,17,15,17:100:100 +4 81207963 . A G 100 PASS DP=103;CSQ_Allele=G;CSQ_SYMBOL=FGF5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.*137A>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81207963A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10664;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.345382;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:3UTR;CSQ_CADD_PHRED=7.053 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,33:103:0.32039:65:-100:0.1953:5,10,3,5,4,6,11,31,12,17,15,17:100:100 +4 81208992 . A T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.*1166A>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81208992A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22397;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.725856;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:3UTR;CSQ_CADD_PHRED=3.104 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,90:110:0.81818:65:-100:0.1057:15,28,9,18,7,13,18,35,10,19,10,18:100:100 +4 81208992 . A T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=FGF5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.*1166A>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81208992A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22397;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.725856;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:3UTR;CSQ_CADD_PHRED=3.104 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,90:110:0.81818:65:-100:0.1057:15,28,9,18,7,13,18,35,10,19,10,18:100:100 +4 81211570 . G C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=FGF5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_001291812.2;CSQ_HGVSc=NM_001291812.2:c.*3744G>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81211570G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18888;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.612571;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:3UTR;CSQ_CADD_PHRED=0.321 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,72:114:0.63158:65:-100:0.1094:13,25,7,11,5,11,19,42,12,16,7,18:100:100 +4 81211570 . G C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=FGF5;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_004464.4;CSQ_HGVSc=NM_004464.4:c.*3744G>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.81211570G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18888;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.612571;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF5:3UTR;CSQ_CADD_PHRED=0.321 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,72:114:0.63158:65:-100:0.1094:13,25,7,11,5,11,19,42,12,16,7,18:100:100 +4 84383810 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=FAM175A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_139076.3;CSQ_HGVSc=NM_139076.3:c.1042G>A;CSQ_HGVSp=NP_620775.2:p.Ala348Thr;CSQ_HGVSg=4:g.84383810C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1166234;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=11492;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.371982;CSQ_gnomADe_AC=108936;CSQ_gnomADe_AN=246128;CSQ_gnomADe_AF=0.442599;CSQ_gnomADe_Hom=26121;CSQ_COSMICcMuts=COSV55030147&COSV55030147;CSQ_COSMICncMuts=COSV55030147&COSV55030147&COSV55030147&COSV55030147&COSV55030147&COSV55030147&COSV55030147;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=0.146;CSQ_Mastermind_MMID3=ABRAXAS1:A239T&ABRAXAS1:A348T;CSQ_CADD_PHRED=13.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,36:132:0.27273:65:-100:0.0959:7,18,1,6,2,2,23,44,12,25,11,17:100:100 +4 99806163 . C T 100 PASS DP=98;CSQ_Allele=T;CSQ_SYMBOL=EIF4E;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/7;CSQ_INTRON=.;CSQ_Feature=NM_001130678.4;CSQ_HGVSc=NM_001130678.4:c.509G>A;CSQ_HGVSp=NP_001124150.1:p.Cys170Tyr;CSQ_HGVSg=4:g.99806163C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55189683&COSV55189683&COSV55189683&COSV55189683;CSQ_COSMICncMuts=COSV55189683&COSV55189683;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.723;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,9:98:0.09184:65:-100:0.1171:1,5,1,1,0,1,6,44,8,23,6,11:100:100 +4 99806163 . C T 100 PASS DP=98;CSQ_Allele=T;CSQ_SYMBOL=EIF4E;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/8;CSQ_INTRON=.;CSQ_Feature=NM_001130679.3;CSQ_HGVSc=NM_001130679.3:c.542G>A;CSQ_HGVSp=NP_001124151.1:p.Cys181Tyr;CSQ_HGVSg=4:g.99806163C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55189683&COSV55189683&COSV55189683&COSV55189683;CSQ_COSMICncMuts=COSV55189683&COSV55189683;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.723;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,9:98:0.09184:65:-100:0.1171:1,5,1,1,0,1,6,44,8,23,6,11:100:100 +4 106155751 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=TET2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.652G>A;CSQ_HGVSp=NP_001120680.1:p.Val218Met;CSQ_HGVSg=4:g.106155751G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135321;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=3282;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.106042;CSQ_gnomADe_AC=12423;CSQ_gnomADe_AN=245674;CSQ_gnomADe_AF=0.050567;CSQ_gnomADe_Hom=884;CSQ_COSMICcMuts=COSV54412627&COSV54412627&COSV54412627&COSV54412627&COSV54412627&COSV54412627&COSV54412627;CSQ_COSMICncMuts=COSV54412627;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.051;CSQ_Mastermind_MMID3=TET2:V218M;CSQ_CADD_PHRED=14.05 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,12:128:0.09375:65:-100:0.0657:2,5,0,3,1,1,24,37,18,18,8,23:100:100 +4 106155902 . C A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=TET2;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.803C>A;CSQ_HGVSp=NP_001120680.1:p.Ser268Ter;CSQ_HGVSg=4:g.106155902C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54415717&COSV54415717&COSV54415717&COSV54415717&COSV54415717&COSV54415717&COSV54415717;CSQ_COSMICncMuts=COSV54415717;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TET2:S268X;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,11:137:0.08029:65:-95.6257:0.1845:1,6,1,0,0,3,18,47,18,18,7,29:100:100 +4 106157132 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=TET2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.2033G>A;CSQ_HGVSp=NP_001120680.1:p.Gly678Asp;CSQ_HGVSg=4:g.106157132G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54398845&COSV54398845&COSV54398845&COSV54398845&COSV54398845&COSV54398845&COSV54398845;CSQ_COSMICncMuts=COSV54398845;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.045;CSQ_Mastermind_MMID3=TET2:G678D;CSQ_CADD_PHRED=4.728 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,18:129:0.13953:65:-100:0.1677:3,5,2,3,3,2,21,41,9,23,17,18:100:100 +4 106158216 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=TET2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.3117G>A;CSQ_HGVSp=NP_001120680.1:p.Ser1039%3D;CSQ_HGVSg=4:g.106158216G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2766;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0894277;CSQ_gnomADe_AC=7743;CSQ_gnomADe_AN=245418;CSQ_gnomADe_AF=0.0315503;CSQ_gnomADe_Hom=711;CSQ_COSMICcMuts=COSV54412643&COSV54412643&COSV54412643&COSV54412643&COSV54412643&COSV54412643&COSV54412643;CSQ_COSMICncMuts=COSV54412643;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TET2:S1039S;CSQ_CADD_PHRED=0.110 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,18:150:0.12:65:-100:0.1228:5,4,0,4,0,5,18,43,11,33,14,31:100:100 +4 106158738 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=TET2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/10;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.3409+230G>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.106158738G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=294;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.00950472;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TET2:3UTR&TET2:E1137int&TET2:E1137intd;CSQ_CADD_PHRED=8.064 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,8:115:0.06957:65:-100:0.1481:0,1,0,1,2,4,15,44,14,18,8,16:100:100 +4 106159644 . T A 100 PASS DP=116;CSQ_Allele=A;CSQ_SYMBOL=TET2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/10;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.3409+1136T>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.106159644T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30983;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.999968;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TET2:3UTR&TET2:E1137int&TET2:E1137intd;CSQ_CADD_PHRED=2.850 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,116:116:1:65:-100:0.1594:23,41,12,23,7,10,23,41,12,23,7,10:100:100 +4 106160133 . G A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=TET2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/10;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.3409+1625G>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.106160133G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5307;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.171903;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54412125&COSV54412125&COSV54412125&COSV54412125&COSV54412125&COSV54412125&COSV54412125;CSQ_COSMICncMuts=COSV54412125;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TET2:3UTR&TET2:E1137int&TET2:E1137intd;CSQ_CADD_PHRED=0.261 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,12:110:0.10909:65:-100:0.1791:1,8,0,1,1,1,22,34,6,18,10,20:100:100 +4 106160161 . A G 100 PASS DP=87;CSQ_Allele=G;CSQ_SYMBOL=TET2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/10;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.3409+1653A>G;CSQ_HGVSp=.;CSQ_HGVSg=4:g.106160161A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=396;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.012823;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TET2:3UTR&TET2:E1137int&TET2:E1137intd;CSQ_CADD_PHRED=1.202 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,9:87:0.10345:65:-100:0.1869:0,3,1,0,1,4,18,31,6,10,9,13:82.571:100 +4 106182946 . C A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=TET2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.3985C>A;CSQ_HGVSp=NP_001120680.1:p.Leu1329Met;CSQ_HGVSg=4:g.106182946C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54435905&COSV54435905&COSV54435905&COSV54435905;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.231;CSQ_Mastermind_MMID3=TET2:L1329M;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,9:125:0.072:65:-100:0.1197:1,3,0,4,0,1,18,42,9,25,12,19:100:100 +4 106190862 . T C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=TET2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.4140T>C;CSQ_HGVSp=NP_001120680.1:p.His1380%3D;CSQ_HGVSg=4:g.106190862T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3497;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.112952;CSQ_gnomADe_AC=5158;CSQ_gnomADe_AN=150994;CSQ_gnomADe_AF=0.0341603;CSQ_gnomADe_Hom=596;CSQ_COSMICcMuts=COSV54402591&COSV54402591&COSV54402591&COSV54402591;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TET2:H1380H;CSQ_CADD_PHRED=5.774 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1417:1,3,0,3,0,2,22,33,10,22,11,11:100:100 +4 106194045 . GA G 100 PASS DP=104;CSQ_Allele=-;CSQ_SYMBOL=TET2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.4511del;CSQ_HGVSp=NP_001120680.1:p.Asn1504ThrfsTer67;CSQ_HGVSg=4:g.106194049del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,6:104:0.05769:65:-97.7418:0:2,1,1,0,0,2,20,38,7,16,9,14:68.878:100 +4 106196487 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=TET2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.4820C>T;CSQ_HGVSp=NP_001120680.1:p.Ser1607Leu;CSQ_HGVSg=4:g.106196487C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54439775&COSV54439775&COSV54439775&COSV54439775;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.057;CSQ_Mastermind_MMID3=TET2:S1607L;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,7:129:0.05426:65:-100:0.1224:0,3,1,0,1,2,16,53,14,12,10,24:98.424:100 +4 106196829 . T G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=TET2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.5162T>G;CSQ_HGVSp=NP_001120680.1:p.Leu1721Trp;CSQ_HGVSg=4:g.106196829T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135300;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=3556;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.114917;CSQ_gnomADe_AC=17589;CSQ_gnomADe_AN=151900;CSQ_gnomADe_AF=0.115793;CSQ_gnomADe_Hom=1098;CSQ_COSMICcMuts=COSV54397523&COSV54397523&COSV54397523&COSV54397523;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.084;CSQ_Mastermind_MMID3=TET2:L1721W;CSQ_CADD_PHRED=22.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,6:129:0.04651:65:-97.5933:0.14:0,3,0,2,0,1,23,51,7,26,8,14:66.412:100 +4 106196951 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=TET2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.5284A>G;CSQ_HGVSp=NP_001120680.1:p.Ile1762Val;CSQ_HGVSg=4:g.106196951A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135287;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=8094;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.261603;CSQ_gnomADe_AC=45157;CSQ_gnomADe_AN=150156;CSQ_gnomADe_AF=0.300734;CSQ_gnomADe_Hom=7202;CSQ_COSMICcMuts=COSV54396998&COSV54396998&COSV54396998&COSV54396998;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.030;CSQ_Mastermind_MMID3=TET2:I1762V;CSQ_CADD_PHRED=0.074 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,33:148:0.22297:65:-100:0.1395:7,10,2,5,2,7,23,47,14,28,12,24:100:100 +4 106197000 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=TET2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.5333A>G;CSQ_HGVSp=NP_001120680.1:p.His1778Arg;CSQ_HGVSg=4:g.106197000A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135289;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=2379;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0768212;CSQ_gnomADe_AC=5515;CSQ_gnomADe_AN=150596;CSQ_gnomADe_AF=0.0366212;CSQ_gnomADe_Hom=240;CSQ_COSMICcMuts=COSV54402025&COSV54402025&COSV54402025&COSV54402025;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.161;CSQ_Mastermind_MMID3=TET2:H1778R;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,21:146:0.14384:65:-100:0.1512:6,6,0,3,1,5,20,51,14,23,10,28:100:100 +4 106197609 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=TET2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001127208.3;CSQ_HGVSc=NM_001127208.3:c.5942A>G;CSQ_HGVSp=NP_001120680.1:p.Asp1981Gly;CSQ_HGVSg=4:g.106197609A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54398861&COSV54398861&COSV54398861&COSV54398861;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.107;CSQ_Mastermind_MMID3=TET2:D1981G;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,14:133:0.10526:65:-100:0.1529:1,6,3,2,0,2,20,56,15,16,5,21:100:100 +4 123747942 . G C 100 PASS DP=63;CSQ_Allele=C;CSQ_SYMBOL=FGF2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_002006.5;CSQ_HGVSc=NM_002006.5:c.12G>C;CSQ_HGVSp=NP_001997.5:p.Val4%3D;CSQ_HGVSg=4:g.123747942G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=277;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.00899117;CSQ_gnomADe_AC=1053;CSQ_gnomADe_AN=62184;CSQ_gnomADe_AF=0.0169336;CSQ_gnomADe_Hom=47;CSQ_COSMICcMuts=COSV52649672;CSQ_COSMICncMuts=COSV52649672&COSV52649672;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF2:V4V;CSQ_CADD_PHRED=4.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,10:63:0.15873:65:-100:0.1818:5,2,0,3,0,0,18,13,7,13,5,7:100:100 +4 123748012 . G A 100 PASS DP=72;CSQ_Allele=A;CSQ_SYMBOL=FGF2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_002006.5;CSQ_HGVSc=NM_002006.5:c.82G>A;CSQ_HGVSp=NP_001997.5:p.Gly28Ser;CSQ_HGVSg=4:g.123748012G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.152;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.53 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,5:72:0.06944:65:-100:0.1111:2,0,1,1,1,0,24,9,10,9,16,4:66.888:100 +4 123759751 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=FGF2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002006.5;CSQ_HGVSc=NM_002006.5:c.577+11244C>T;CSQ_HGVSp=.;CSQ_HGVSg=4:g.123759751C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2157;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0697111;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.439 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,9:121:0.07438:65:-100:0.1295:1,4,1,0,0,3,19,47,10,22,9,14:100:100 +4 123780745 . CA C 100 PASS DP=105;CSQ_Allele=-;CSQ_SYMBOL=FGF2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002006.5;CSQ_HGVSc=NM_002006.5:c.578-16728del;CSQ_HGVSp=.;CSQ_HGVSg=4:g.123780748del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1703;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0550776;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.950 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,7:105:0.06667:65:-100:0:2,2,0,1,0,2,17,33,4,16,7,28:100:100 +4 123807262 . G A 100 PASS DP=91;CSQ_Allele=A;CSQ_SYMBOL=FGF2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002006.5;CSQ_HGVSc=NM_002006.5:c.682-6104G>A;CSQ_HGVSp=.;CSQ_HGVSg=4:g.123807262G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13692;CSQ_gnomADg_AN=30440;CSQ_gnomADg_AF=0.449803;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.063 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,32:91:0.35165:65:-100:0.1947:7,6,8,7,1,3,16,22,15,15,8,15:100:100 +4 123807279 . T C 100 PASS DP=78;CSQ_Allele=C;CSQ_SYMBOL=FGF2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002006.5;CSQ_HGVSc=NM_002006.5:c.682-6087T>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.123807279T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4794;CSQ_gnomADg_AN=30734;CSQ_gnomADg_AF=0.155984;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.449 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,35:78:0.44872:65:-100:0.2041:4,10,3,8,2,8,10,22,11,16,6,13:100:100 +4 143033778 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=INPP4B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/26;CSQ_INTRON=.;CSQ_Feature=NM_001101669.3;CSQ_HGVSc=NM_001101669.3:c.2193A>G;CSQ_HGVSp=NP_001095139.1:p.Leu731%3D;CSQ_HGVSg=4:g.143033778T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1774;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0573553;CSQ_gnomADe_AC=20380;CSQ_gnomADe_AN=245416;CSQ_gnomADe_AF=0.0830427;CSQ_gnomADe_Hom=1059;CSQ_COSMICcMuts=COSV53720345&COSV53720345&COSV53720345&COSV53720345&COSV53720345;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4B:D389int&INPP4B:D389inta&INPP4B:D574int&INPP4B:D574inta&INPP4B:L478L&INPP4B:L483L&INPP4B:L487L&INPP4B:L546L&INPP4B:L555L&INPP4B:L596L&INPP4B:L602L&INPP4B:L731L&INPP4B:L740L;CSQ_CADD_PHRED=0.198 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,7:131:0.05344:65:-97.3038:0.1027:2,3,0,1,1,0,18,51,10,20,11,21:91.081:100 +4 143033778 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=INPP4B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/27;CSQ_INTRON=.;CSQ_Feature=NM_003866.3;CSQ_HGVSc=NM_003866.3:c.2193A>G;CSQ_HGVSp=NP_003857.2:p.Leu731%3D;CSQ_HGVSg=4:g.143033778T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1774;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0573553;CSQ_gnomADe_AC=20380;CSQ_gnomADe_AN=245416;CSQ_gnomADe_AF=0.0830427;CSQ_gnomADe_Hom=1059;CSQ_COSMICcMuts=COSV53720345&COSV53720345&COSV53720345&COSV53720345&COSV53720345;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4B:D389int&INPP4B:D389inta&INPP4B:D574int&INPP4B:D574inta&INPP4B:L478L&INPP4B:L483L&INPP4B:L487L&INPP4B:L546L&INPP4B:L555L&INPP4B:L596L&INPP4B:L602L&INPP4B:L731L&INPP4B:L740L;CSQ_CADD_PHRED=0.198 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,7:131:0.05344:65:-97.3038:0.1027:2,3,0,1,1,0,18,51,10,20,11,21:91.081:100 +4 143235865 . C G 100 PASS DP=103;CSQ_Allele=G;CSQ_SYMBOL=INPP4B;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/26;CSQ_INTRON=.;CSQ_Feature=NM_001101669.3;CSQ_HGVSc=NM_001101669.3:c.423G>C;CSQ_HGVSp=NP_001095139.1:p.Gly141%3D;CSQ_HGVSg=4:g.143235865C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4281;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.138463;CSQ_gnomADe_AC=43536;CSQ_gnomADe_AN=233932;CSQ_gnomADe_AF=0.186105;CSQ_gnomADe_Hom=5758;CSQ_COSMICcMuts=COSV53712502&COSV53712502&COSV53712502&COSV53712502&COSV53712502;CSQ_COSMICncMuts=COSV53712502;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4B:5UTR&INPP4B:5UTRsrd&INPP4B:G141G;CSQ_CADD_PHRED=19.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,21:103:0.20388:65:-100:0.189:5,7,3,1,3,2,23,26,8,9,15,22:100:100 +4 143235865 . C G 100 PASS DP=103;CSQ_Allele=G;CSQ_SYMBOL=INPP4B;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/27;CSQ_INTRON=.;CSQ_Feature=NM_003866.3;CSQ_HGVSc=NM_003866.3:c.423G>C;CSQ_HGVSp=NP_003857.2:p.Gly141%3D;CSQ_HGVSg=4:g.143235865C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4281;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.138463;CSQ_gnomADe_AC=43536;CSQ_gnomADe_AN=233932;CSQ_gnomADe_AF=0.186105;CSQ_gnomADe_Hom=5758;CSQ_COSMICcMuts=COSV53712502&COSV53712502&COSV53712502&COSV53712502&COSV53712502;CSQ_COSMICncMuts=COSV53712502;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4B:5UTR&INPP4B:5UTRsrd&INPP4B:G141G;CSQ_CADD_PHRED=19.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,21:103:0.20388:65:-100:0.189:5,7,3,1,3,2,23,26,8,9,15,22:100:100 +4 143324094 . G A 100 PASS DP=95;CSQ_Allele=A;CSQ_SYMBOL=INPP4B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/26;CSQ_INTRON=.;CSQ_Feature=NM_001101669.3;CSQ_HGVSc=NM_001101669.3:c.369C>T;CSQ_HGVSp=NP_001095139.1:p.Asp123%3D;CSQ_HGVSg=4:g.143324094G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8608;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.278468;CSQ_gnomADe_AC=77792;CSQ_gnomADe_AN=245668;CSQ_gnomADe_AF=0.316655;CSQ_gnomADe_Hom=13483;CSQ_COSMICcMuts=COSV53712531&COSV53712531&COSV53712531&COSV53712531&COSV53712531&COSV53712531;CSQ_COSMICncMuts=COSV53712531&COSV53712531&COSV53712531;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4B:5UTR&INPP4B:D123D;CSQ_CADD_PHRED=12.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,15:95:0.15789:65:-100:0.181:3,3,1,4,4,0,17,37,7,18,7,9:100:100 +4 143324094 . G A 100 PASS DP=95;CSQ_Allele=A;CSQ_SYMBOL=INPP4B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/27;CSQ_INTRON=.;CSQ_Feature=NM_003866.3;CSQ_HGVSc=NM_003866.3:c.369C>T;CSQ_HGVSp=NP_003857.2:p.Asp123%3D;CSQ_HGVSg=4:g.143324094G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8608;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.278468;CSQ_gnomADe_AC=77792;CSQ_gnomADe_AN=245668;CSQ_gnomADe_AF=0.316655;CSQ_gnomADe_Hom=13483;CSQ_COSMICcMuts=COSV53712531&COSV53712531&COSV53712531&COSV53712531&COSV53712531&COSV53712531;CSQ_COSMICncMuts=COSV53712531&COSV53712531&COSV53712531;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INPP4B:5UTR&INPP4B:D123D;CSQ_CADD_PHRED=12.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,15:95:0.15789:65:-100:0.181:3,3,1,4,4,0,17,37,7,18,7,9:100:100 +4 153244155 . TC T 100 PASS DP=128;CSQ_Allele=-;CSQ_SYMBOL=FBXW7;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001013415.2;CSQ_HGVSc=NM_001013415.2:c.1647del;CSQ_HGVSp=NP_001013433.1:p.Ser550ValfsTer39;CSQ_HGVSg=4:g.153244161del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55893496&COSV55893496&COSV55893496&COSV55893496&COSV55893496&COSV55893496;CSQ_COSMICncMuts=COSV55893496&COSV55893496&COSV55893496;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,12:128:0.09375:65:-100:0:0,3,0,4,3,2,19,48,6,24,16,15:100:100 +4 153244155 . TC T 100 PASS DP=128;CSQ_Allele=-;CSQ_SYMBOL=FBXW7;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_018315.5;CSQ_HGVSc=NM_018315.5:c.1761del;CSQ_HGVSp=NP_060785.2:p.Ser588ValfsTer39;CSQ_HGVSg=4:g.153244161del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55893496&COSV55893496&COSV55893496&COSV55893496&COSV55893496&COSV55893496;CSQ_COSMICncMuts=COSV55893496&COSV55893496&COSV55893496;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,12:128:0.09375:65:-100:0:0,3,0,4,3,2,19,48,6,24,16,15:100:100 +4 153244155 . TC T 100 PASS DP=128;CSQ_Allele=-;CSQ_SYMBOL=FBXW7;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_033632.3;CSQ_HGVSc=NM_033632.3:c.2001del;CSQ_HGVSp=NP_361014.1:p.Ser668ValfsTer39;CSQ_HGVSg=4:g.153244161del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55893496&COSV55893496&COSV55893496&COSV55893496&COSV55893496&COSV55893496;CSQ_COSMICncMuts=COSV55893496&COSV55893496&COSV55893496;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,12:128:0.09375:65:-100:0:0,3,0,4,3,2,19,48,6,24,16,15:100:100 +4 153274004 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=FBXW7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001013415.2;CSQ_HGVSc=NM_001013415.2:c.148-2728T>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.153274004A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,25:160:0.15625:65:-100:0.1111:3,8,3,4,0,7,32,53,12,29,12,22:100:100 +4 153274004 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=FBXW7;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_018315.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=4:g.153274004A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,25:160:0.15625:65:-100:0.1111:3,8,3,4,0,7,32,53,12,29,12,22:100:100 +4 153274004 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=FBXW7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/11;CSQ_Feature=NM_033632.3;CSQ_HGVSc=NM_033632.3:c.502-2728T>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.153274004A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,25:160:0.15625:65:-100:0.1111:3,8,3,4,0,7,32,53,12,29,12,22:100:100 +4 153332380 . T G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=FBXW7;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001257069.1;CSQ_HGVSc=NM_001257069.1:c.*45A>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.153332380T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1260714;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3140;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.101506;CSQ_gnomADe_AC=15193;CSQ_gnomADe_AN=140020;CSQ_gnomADe_AF=0.108506;CSQ_gnomADe_Hom=1261;CSQ_COSMICcMuts=COSV105861250&COSV105861250&COSV105861250&COSV105861250;CSQ_COSMICncMuts=COSV105861250;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.329 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,9:128:0.07031:65:-100:0.1409:3,3,0,2,1,0,21,31,12,34,10,20:100:100 +4 153332380 . T G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=FBXW7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/11;CSQ_Feature=NM_033632.3;CSQ_HGVSc=NM_033632.3:c.501+75A>C;CSQ_HGVSp=.;CSQ_HGVSg=4:g.153332380T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1260714;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3140;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.101506;CSQ_gnomADe_AC=15193;CSQ_gnomADe_AN=140020;CSQ_gnomADe_AF=0.108506;CSQ_gnomADe_Hom=1261;CSQ_COSMICcMuts=COSV105861250&COSV105861250&COSV105861250&COSV105861250;CSQ_COSMICncMuts=COSV105861250;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FBXW7:3UTR&FBXW7:K167int&FBXW7:K167intd;CSQ_CADD_PHRED=6.329 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,9:128:0.07031:65:-100:0.1409:3,3,0,2,1,0,21,31,12,34,10,20:100:100 +4 153332500 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=FBXW7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001257069.1;CSQ_HGVSc=NM_001257069.1:c.456G>A;CSQ_HGVSp=NP_001243998.1:p.Leu152%3D;CSQ_HGVSg=4:g.153332500C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55955280&COSV55955280&COSV55955280&COSV55955280;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FBXW7:L152L;CSQ_CADD_PHRED=4.509 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1304:2,5,1,4,2,3,22,53,10,29,19,27:100:100 +4 153332500 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=FBXW7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_033632.3;CSQ_HGVSc=NM_033632.3:c.456G>A;CSQ_HGVSp=NP_361014.1:p.Leu152%3D;CSQ_HGVSg=4:g.153332500C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55955280&COSV55955280&COSV55955280&COSV55955280;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FBXW7:L152L;CSQ_CADD_PHRED=4.509 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1304:2,5,1,4,2,3,22,53,10,29,19,27:100:100 +4 185310053 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=IRF2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_002199.4;CSQ_HGVSc=NM_002199.4:c.909C>T;CSQ_HGVSp=NP_002190.2:p.Ser303%3D;CSQ_HGVSg=4:g.185310053G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=708814;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=578;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0186934;CSQ_gnomADe_AC=1142;CSQ_gnomADe_AN=246052;CSQ_gnomADe_AF=0.0046413;CSQ_gnomADe_Hom=38;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IRF2:S303S;CSQ_CADD_PHRED=12.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,14:143:0.0979:65:-100:0.1227:3,3,1,3,0,4,21,40,19,24,11,28:100:100 +4 185310218 . C T 100 PASS DP=115;CSQ_Allele=T;CSQ_SYMBOL=IRF2;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_002199.4;CSQ_HGVSc=NM_002199.4:c.744G>A;CSQ_HGVSp=NP_002190.2:p.Gly248%3D;CSQ_HGVSg=4:g.185310218C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11934;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.386389;CSQ_gnomADe_AC=104120;CSQ_gnomADe_AN=243698;CSQ_gnomADe_AF=0.42725;CSQ_gnomADe_Hom=23012;CSQ_COSMICcMuts=COSV66928779;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IRF2:E247sra&IRF2:G248G;CSQ_CADD_PHRED=8.418 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,53:115:0.46087:65:-100:0.1667:11,29,1,7,2,3,21,50,6,16,4,18:100:100 +4 185320125 . G A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=IRF2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/9;CSQ_INTRON=.;CSQ_Feature=NM_002199.4;CSQ_HGVSc=NM_002199.4:c.638C>T;CSQ_HGVSp=NP_002190.2:p.Pro213Leu;CSQ_HGVSg=4:g.185320125G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=245290;CSQ_gnomADe_AF=1.63072e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV66928378;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.488;CSQ_Mastermind_MMID3=IRF2:P213L;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,9:138:0.06522:65:-100:0.2159:1,4,1,2,0,1,28,45,13,19,12,21:100:100 +4 187516880 . A G 100 PASS DP=124;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=26/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.13101T>C;CSQ_HGVSp=NP_005236.2:p.Ser4367%3D;CSQ_HGVSg=4:g.187516880A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1273862;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=14653;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.474207;CSQ_gnomADe_AC=104711;CSQ_gnomADe_AN=246188;CSQ_gnomADe_AF=0.425329;CSQ_gnomADe_Hom=24447;CSQ_COSMICcMuts=COSV71672634;CSQ_COSMICncMuts=COSV71672634&COSV71672634&COSV71672634;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:S4367S;CSQ_CADD_PHRED=8.393 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,79:124:0.6371:65:-100:0.1507:11,32,1,19,6,10,24,46,4,27,11,12:100:100 +4 187517758 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.12936C>T;CSQ_HGVSp=NP_005236.2:p.Pro4312%3D;CSQ_HGVSg=4:g.187517758G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1291302;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1357;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0438336;CSQ_gnomADe_AC=14477;CSQ_gnomADe_AN=244576;CSQ_gnomADe_AF=0.0591922;CSQ_gnomADe_Hom=889;CSQ_COSMICcMuts=COSV71674398;CSQ_COSMICncMuts=COSV71674398&COSV71674398&COSV71674398&COSV71674398&COSV71674398;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:P4312P;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,7:108:0.06481:65:-100:0.25:2,3,0,1,0,1,15,38,9,18,7,21:81.06:100 +4 187518871 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.12333C>T;CSQ_HGVSp=NP_005236.2:p.Ala4111%3D;CSQ_HGVSg=4:g.187518871G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1245344;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=853;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0275552;CSQ_gnomADe_AC=3086;CSQ_gnomADe_AN=246172;CSQ_gnomADe_AF=0.012536;CSQ_gnomADe_Hom=64;CSQ_COSMICcMuts=COSV71674399;CSQ_COSMICncMuts=COSV71674399&COSV71674399&COSV71674399&COSV71674399&COSV71674399&COSV71674399;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:A4111A;CSQ_CADD_PHRED=5.327 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,12:145:0.08276:65:-100:0.152:1,3,2,4,0,2,20,47,24,22,7,25:100:100 +4 187519206 . C G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.12177G>C;CSQ_HGVSp=NP_005236.2:p.Lys4059Asn;CSQ_HGVSg=4:g.187519206C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1180023;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30860;CSQ_gnomADg_AN=30990;CSQ_gnomADg_AF=0.995805;CSQ_gnomADe_AC=245049;CSQ_gnomADe_AN=246196;CSQ_gnomADe_AF=0.995341;CSQ_gnomADe_Hom=121963;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.265;CSQ_Mastermind_MMID3=FAT1:K4059N;CSQ_CADD_PHRED=11.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,157:157:1:65:-100:0.1374:18,59,17,26,7,30,18,59,17,26,7,30:100:100 +4 187524714 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.10966G>A;CSQ_HGVSp=NP_005236.2:p.Val3656Ile;CSQ_HGVSg=4:g.187524714C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=712556;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Likely_benign(1);CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=61;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00196927;CSQ_gnomADe_AC=107;CSQ_gnomADe_AN=246218;CSQ_gnomADe_AF=0.000434574;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV71676200;CSQ_COSMICncMuts=COSV71676200&COSV71676200;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.071;CSQ_Mastermind_MMID3=FAT1:V3656I;CSQ_CADD_PHRED=16.13 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,16:157:0.10191:65:-100:0.113:2,7,1,3,0,3,25,52,8,33,7,32:100:100 +4 187525020 . A C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.10660T>G;CSQ_HGVSp=NP_005236.2:p.Ser3554Ala;CSQ_HGVSg=4:g.187525020A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1268969;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15264;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.493885;CSQ_gnomADe_AC=105950;CSQ_gnomADe_AN=246064;CSQ_gnomADe_AF=0.430579;CSQ_gnomADe_Hom=25285;CSQ_COSMICcMuts=COSV71673371;CSQ_COSMICncMuts=COSV71673371;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.039;CSQ_Mastermind_MMID3=FAT1:S3554A;CSQ_CADD_PHRED=10.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,84:145:0.57931:65:-100:0.1317:11,31,5,17,7,13,24,51,11,27,11,21:100:100 +4 187531022 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.10001T>C;CSQ_HGVSp=NP_005236.2:p.Val3334Ala;CSQ_HGVSg=4:g.187531022A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1234383;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4954;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.160178;CSQ_gnomADe_AC=37416;CSQ_gnomADe_AN=246132;CSQ_gnomADe_AF=0.152016;CSQ_gnomADe_Hom=3517;CSQ_COSMICcMuts=COSV71673573;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.095;CSQ_Mastermind_MMID3=FAT1:V3334A;CSQ_CADD_PHRED=14.10 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,27:134:0.20149:65:-100:0.141:1,11,4,4,2,5,25,38,15,23,13,20:100:100 +4 187532796 . C CA 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=14/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.9596dup;CSQ_HGVSp=NP_005236.2:p.Leu3199PhefsTer24;CSQ_HGVSg=4:g.187532799dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV71672187;CSQ_COSMICncMuts=COSV71672187;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:L3199fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,21:135:0.15556:65:-100:0:4,3,2,7,1,4,19,50,15,26,10,17:100:100 +4 187534363 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.9363C>T;CSQ_HGVSp=NP_005236.2:p.Asn3121%3D;CSQ_HGVSg=4:g.187534363G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1281026;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19041;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.618777;CSQ_gnomADe_AC=145924;CSQ_gnomADe_AN=245882;CSQ_gnomADe_AF=0.593472;CSQ_gnomADe_Hom=44146;CSQ_COSMICcMuts=COSV71675358;CSQ_COSMICncMuts=COSV71675358;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:N3121N;CSQ_CADD_PHRED=0.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,93:146:0.63699:65:-100:0.1462:14,36,9,15,7,12,19,60,15,19,12,21:100:100 +4 187534375 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.9351T>C;CSQ_HGVSp=NP_005236.2:p.Asp3117%3D;CSQ_HGVSg=4:g.187534375A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1286546;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=14069;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.457201;CSQ_gnomADe_AC=108349;CSQ_gnomADe_AN=245920;CSQ_gnomADe_AF=0.440586;CSQ_gnomADe_Hom=24597;CSQ_COSMICcMuts=COSV71672930;CSQ_COSMICncMuts=COSV71672930;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:D3117D;CSQ_CADD_PHRED=0.644 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,74:141:0.52482:65:-100:0.1188:14,30,4,12,7,7,21,59,13,17,14,17:100:100 +4 187538330 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.8904C>T;CSQ_HGVSp=NP_005236.2:p.Ala2968%3D;CSQ_HGVSg=4:g.187538330G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1239825;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=14136;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.457476;CSQ_gnomADe_AC=106017;CSQ_gnomADe_AN=241070;CSQ_gnomADe_AF=0.439777;CSQ_gnomADe_Hom=24044;CSQ_COSMICcMuts=COSV71672932;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:A2968A;CSQ_CADD_PHRED=10.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,65:118:0.55085:65:-100:0.1061:6,20,6,12,6,15,16,35,9,22,11,25:100:100 +4 187538942 . T G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.8798A>C;CSQ_HGVSp=NP_005236.2:p.Gln2933Pro;CSQ_HGVSg=4:g.187538942T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1230564;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=18224;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.589773;CSQ_gnomADe_AC=136458;CSQ_gnomADe_AN=245898;CSQ_gnomADe_AF=0.554937;CSQ_gnomADe_Hom=38652;CSQ_COSMICcMuts=COSV71672137;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=0.139;CSQ_Mastermind_MMID3=FAT1:Q2933P;CSQ_CADD_PHRED=13.22 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,84:138:0.6087:65:-100:0.1375:9,34,7,13,7,14,19,54,8,23,13,21:100:100 +4 187541326 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.6414A>G;CSQ_HGVSp=NP_005236.2:p.Lys2138%3D;CSQ_HGVSg=4:g.187541326T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.000903867;CSQ_gnomADe_AC=48;CSQ_gnomADe_AN=246172;CSQ_gnomADe_AF=0.000194986;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,10:135:0.07407:65:-100:0.106:1,5,0,2,1,1,23,50,9,21,11,21:100:100 +4 187541761 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.5979C>T;CSQ_HGVSp=NP_005236.2:p.Thr1993%3D;CSQ_HGVSg=4:g.187541761G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1265868;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1364;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0440568;CSQ_gnomADe_AC=17591;CSQ_gnomADe_AN=246188;CSQ_gnomADe_AF=0.0714535;CSQ_gnomADe_Hom=1545;CSQ_COSMICcMuts=COSV71672944;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:T1993T;CSQ_CADD_PHRED=0.005 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,13:124:0.10484:65:-100:0.1206:6,1,0,3,0,3,29,43,6,17,7,22:100:100 +4 187542755 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.4985A>G;CSQ_HGVSp=NP_005236.2:p.Asn1662Ser;CSQ_HGVSg=4:g.187542755T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1238469;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5095;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.16461;CSQ_gnomADe_AC=37834;CSQ_gnomADe_AN=246056;CSQ_gnomADe_AF=0.153762;CSQ_gnomADe_Hom=3671;CSQ_COSMICcMuts=COSV71672102;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.343;CSQ_Mastermind_MMID3=FAT1:N1662S;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,38:142:0.26761:65:-100:0.1548:5,18,2,4,6,3,15,57,7,25,16,22:100:100 +4 187557893 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.3818A>G;CSQ_HGVSp=NP_005236.2:p.His1273Arg;CSQ_HGVSg=4:g.187557893T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1236097;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19617;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.635801;CSQ_gnomADe_AC=144906;CSQ_gnomADe_AN=246214;CSQ_gnomADe_AF=0.588537;CSQ_gnomADe_Hom=43903;CSQ_COSMICcMuts=COSV71672989;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.154;CSQ_Mastermind_MMID3=FAT1:H1273R;CSQ_CADD_PHRED=12.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,101:145:0.69655:65:-100:0.1618:19,33,8,19,10,12,27,48,13,29,11,17:100:100 +4 187560892 . T A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.3626A>T;CSQ_HGVSp=NP_005236.2:p.Asp1209Val;CSQ_HGVSg=4:g.187560892T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV71672189;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=0.199;CSQ_Mastermind_MMID3=FAT1:D1209V;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,11:107:0.1028:65:-97.5933:0.144:2,3,1,3,0,2,16,37,5,12,11,26:100:100 +4 187627792 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.3190A>G;CSQ_HGVSp=NP_005236.2:p.Arg1064Gly;CSQ_HGVSg=4:g.187627792T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1244700;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=24622;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.796262;CSQ_gnomADe_AC=185929;CSQ_gnomADe_AN=246230;CSQ_gnomADe_AF=0.755103;CSQ_gnomADe_Hom=71292;CSQ_COSMICcMuts=COSV71672014;CSQ_COSMICncMuts=COSV71672014;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=0.123;CSQ_Mastermind_MMID3=FAT1:R1064G;CSQ_CADD_PHRED=19.30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,104:141:0.73759:65:-100:0.1132:20,26,13,15,9,21,26,39,20,20,11,25:100:100 +4 187628054 . C G 100 PASS DP=139;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.2928G>C;CSQ_HGVSp=NP_005236.2:p.Val976%3D;CSQ_HGVSg=4:g.187628054C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1261998;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=826;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0266761;CSQ_gnomADe_AC=8426;CSQ_gnomADe_AN=246202;CSQ_gnomADe_AF=0.0342239;CSQ_gnomADe_Hom=186;CSQ_COSMICcMuts=COSV104437742;CSQ_COSMICncMuts=COSV104437742;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:V976V;CSQ_CADD_PHRED=0.792 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,12:139:0.08633:65:-100:0.1366:2,5,0,2,0,3,27,46,7,26,17,16:100:100 +4 187628398 . C G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.2584G>C;CSQ_HGVSp=NP_005236.2:p.Val862Leu;CSQ_HGVSg=4:g.187628398C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1273384;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=23118;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.748301;CSQ_gnomADe_AC=182599;CSQ_gnomADe_AN=245876;CSQ_gnomADe_AF=0.742647;CSQ_gnomADe_Hom=68753;CSQ_COSMICcMuts=COSV71672016;CSQ_COSMICncMuts=COSV71672016;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.101;CSQ_Mastermind_MMID3=FAT1:V862L;CSQ_CADD_PHRED=2.931 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,121:168:0.72024:65:-100:0.1295:10,51,12,20,6,22,20,65,18,29,7,29:100:100 +4 187628947 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.2035G>A;CSQ_HGVSp=NP_005236.2:p.Val679Ile;CSQ_HGVSg=4:g.187628947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=790559;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=279;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00900814;CSQ_gnomADe_AC=534;CSQ_gnomADe_AN=245968;CSQ_gnomADe_AF=0.00217101;CSQ_gnomADe_Hom=8;CSQ_COSMICcMuts=COSV104437745;CSQ_COSMICncMuts=COSV104437745;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=0.212;CSQ_Mastermind_MMID3=FAT1:V679I;CSQ_CADD_PHRED=25.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,16:132:0.12121:65:-100:0.1801:5,4,3,2,0,2,27,44,17,20,6,18:100:100 +4 187629137 . A G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.1845T>C;CSQ_HGVSp=NP_005236.2:p.Phe615%3D;CSQ_HGVSg=4:g.187629137A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1225235;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1153;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0372464;CSQ_gnomADe_AC=8216;CSQ_gnomADe_AN=246176;CSQ_gnomADe_AF=0.0333745;CSQ_gnomADe_Hom=210;CSQ_COSMICcMuts=COSV71676233;CSQ_COSMICncMuts=COSV71676233;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:F615F;CSQ_CADD_PHRED=2.895 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,10:129:0.07752:65:-100:0.1677:1,7,0,0,1,1,16,52,9,17,10,25:100:100 +4 187629140 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.1842C>G;CSQ_HGVSp=NP_005236.2:p.Phe614Leu;CSQ_HGVSg=4:g.187629140G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1227896;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=23255;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.751908;CSQ_gnomADe_AC=183028;CSQ_gnomADe_AN=246076;CSQ_gnomADe_AF=0.743786;CSQ_gnomADe_Hom=69011;CSQ_COSMICcMuts=COSV71672018;CSQ_COSMICncMuts=COSV71672018;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.086;CSQ_Mastermind_MMID3=FAT1:F614L;CSQ_CADD_PHRED=12.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,86:129:0.66667:65:-100:0.1887:14,30,7,13,6,16,19,50,9,17,9,25:100:100 +4 187629497 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.1485C>T;CSQ_HGVSp=NP_005236.2:p.Asn495%3D;CSQ_HGVSg=4:g.187629497G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1265703;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16677;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.539918;CSQ_gnomADe_AC=139156;CSQ_gnomADe_AN=246152;CSQ_gnomADe_AF=0.565325;CSQ_gnomADe_Hom=41468;CSQ_COSMICcMuts=COSV71672020;CSQ_COSMICncMuts=COSV71672020;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAT1:N495N;CSQ_CADD_PHRED=0.557 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,74:136:0.54412:65:-100:0.1807:8,33,7,10,2,14,20,50,8,23,9,26:100:100 +4 187629538 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.1444G>A;CSQ_HGVSp=NP_005236.2:p.Val482Ile;CSQ_HGVSg=4:g.187629538C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1288685;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=13457;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.435361;CSQ_gnomADe_AC=119976;CSQ_gnomADe_AN=246000;CSQ_gnomADe_AF=0.487707;CSQ_gnomADe_Hom=31578;CSQ_COSMICcMuts=COSV71672959;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.120;CSQ_Mastermind_MMID3=FAT1:V482I;CSQ_CADD_PHRED=12.46 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,48:142:0.33803:65:-100:0.118:5,15,7,6,3,12,19,55,14,22,9,23:100:100 +4 187629770 . A C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.1212T>G;CSQ_HGVSp=NP_005236.2:p.Ser404Arg;CSQ_HGVSg=4:g.187629770A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1288791;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16034;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.519101;CSQ_gnomADe_AC=137844;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.560014;CSQ_gnomADe_Hom=41045;CSQ_COSMICcMuts=COSV71672025;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.137;CSQ_Mastermind_MMID3=FAT1:S404R;CSQ_CADD_PHRED=14.78 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,59:120:0.49167:65:-100:0.1429:8,23,6,11,4,7,19,43,8,23,8,19:100:100 +4 187630242 . A G 100 PASS DP=175;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.740T>C;CSQ_HGVSp=NP_005236.2:p.Ile247Thr;CSQ_HGVSg=4:g.187630242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV71673256;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.428;CSQ_Mastermind_MMID3=FAT1:I247T;CSQ_CADD_PHRED=20.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:167,8:175:0.04571:65:-100:0.1745:0,3,0,5,0,0,25,69,10,26,15,30:85.298:100 +4 187630590 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.392C>T;CSQ_HGVSp=NP_005236.2:p.Ala131Val;CSQ_HGVSg=4:g.187630590G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1261219;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6374;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.206265;CSQ_gnomADe_AC=43255;CSQ_gnomADe_AN=246180;CSQ_gnomADe_AF=0.175705;CSQ_gnomADe_Hom=4824;CSQ_COSMICcMuts=COSV71672924;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.248;CSQ_Mastermind_MMID3=FAT1:A131V;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,21:126:0.16667:65:-100:0.1:4,6,4,3,1,3,19,48,12,22,8,17:100:100 +4 187630597 . C G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=FAT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_005245.4;CSQ_HGVSc=NM_005245.4:c.385G>C;CSQ_HGVSp=NP_005236.2:p.Val129Leu;CSQ_HGVSg=4:g.187630597C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1282122;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=827;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.0266929;CSQ_gnomADe_AC=8432;CSQ_gnomADe_AN=246220;CSQ_gnomADe_AF=0.0342458;CSQ_gnomADe_Hom=186;CSQ_COSMICcMuts=COSV71676532;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=0.090;CSQ_Mastermind_MMID3=FAT1:V129L;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,9:126:0.07143:65:-100:0.1429:1,6,1,1,0,0,21,49,12,23,7,14:100:100 +5 230997 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=SDHA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/14;CSQ_INTRON=.;CSQ_Feature=NM_001294332.2;CSQ_HGVSc=NM_001294332.2:c.633C>T;CSQ_HGVSp=NP_001281261.1:p.Tyr211%3D;CSQ_HGVSg=5:g.230997C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=239683;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(2)&Benign(1)&Likely_benign(3);CSQ_ClinVar_CLNDN=Leigh_syndrome&Paragangliomas_5&Hereditary_cancer-predisposing_syndrome&Hereditary_pheochromocytoma-paraganglioma&Mitochondrial_complex_II_deficiency&_nuclear_type_1;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=3.2352e-05;CSQ_gnomADe_AC=24;CSQ_gnomADe_AN=246124;CSQ_gnomADe_AF=9.75118e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53765402&COSV53765402&COSV53765402;CSQ_COSMICncMuts=COSV53765402&COSV53765402&COSV53765402;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.05;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.143 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,13:150:0.08667:65:-100:0.1379:4,2,0,3,1,3,32,42,14,22,12,28:100:100 +5 230997 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=SDHA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/15;CSQ_INTRON=.;CSQ_Feature=NM_004168.4;CSQ_HGVSc=NM_004168.4:c.777C>T;CSQ_HGVSp=NP_004159.2:p.Tyr259%3D;CSQ_HGVSg=5:g.230997C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=239683;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(2)&Benign(1)&Likely_benign(3);CSQ_ClinVar_CLNDN=Leigh_syndrome&Paragangliomas_5&Hereditary_cancer-predisposing_syndrome&Hereditary_pheochromocytoma-paraganglioma&Mitochondrial_complex_II_deficiency&_nuclear_type_1;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=3.2352e-05;CSQ_gnomADe_AC=24;CSQ_gnomADe_AN=246124;CSQ_gnomADe_AF=9.75118e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53765402&COSV53765402&COSV53765402;CSQ_COSMICncMuts=COSV53765402&COSV53765402&COSV53765402;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.05;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.143 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,13:150:0.08667:65:-100:0.1379:4,2,0,3,1,3,32,42,14,22,12,28:100:100 +5 231109 . CCT TCC 100 PASS DP=131;CSQ_Allele=TCC;CSQ_SYMBOL=SDHA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/14;CSQ_INTRON=.;CSQ_Feature=NM_001294332.2;CSQ_HGVSc=NM_001294332.2:c.745_747delinsTCC;CSQ_HGVSp=NP_001281261.1:p.Pro249Ser;CSQ_HGVSg=5:g.231109_231111delinsTCC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHA:P249S&SDHA:P297S;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0:4,4,1,0,1,3,44,90,16,38,24,54:100:100 +5 231109 . CCT TCC 100 PASS DP=131;CSQ_Allele=TCC;CSQ_SYMBOL=SDHA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/15;CSQ_INTRON=.;CSQ_Feature=NM_004168.4;CSQ_HGVSc=NM_004168.4:c.889_891delinsTCC;CSQ_HGVSp=NP_004159.2:p.Pro297Ser;CSQ_HGVSg=5:g.231109_231111delinsTCC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHA:P249S&SDHA:P297S;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0:4,4,1,0,1,3,44,90,16,38,24,54:100:100 +5 231111 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=SDHA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/14;CSQ_INTRON=.;CSQ_Feature=NM_001294332.2;CSQ_HGVSc=NM_001294332.2:c.747T>C;CSQ_HGVSp=NP_001281261.1:p.Pro249%3D;CSQ_HGVSg=5:g.231111T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=130283;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leigh_syndrome&Dilated_cardiomyopathy_1GG&Paragangliomas_5&Hereditary_cancer-predisposing_syndrome&Hereditary_pheochromocytoma-paraganglioma&Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy&Mitochondrial_complex_II_deficiency&_nuclear_type_1¬_specified¬_provided;CSQ_gnomADg_AC=22883;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.740215;CSQ_gnomADe_AC=172135;CSQ_gnomADe_AN=245424;CSQ_gnomADe_AF=0.701378;CSQ_gnomADe_Hom=62110;CSQ_COSMICcMuts=COSV53767683&COSV53767683&COSV53767683;CSQ_COSMICncMuts=COSV53767683&COSV53767683;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHA:P249P&SDHA:P297P;CSQ_CADD_PHRED=8.079 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,51:130:0.39231:65:-100:0.1875:7,18,4,8,2,12,22,44,8,19,10,27:100:100 +5 231111 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=SDHA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/15;CSQ_INTRON=.;CSQ_Feature=NM_004168.4;CSQ_HGVSc=NM_004168.4:c.891T>C;CSQ_HGVSp=NP_004159.2:p.Pro297%3D;CSQ_HGVSg=5:g.231111T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=130283;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leigh_syndrome&Dilated_cardiomyopathy_1GG&Paragangliomas_5&Hereditary_cancer-predisposing_syndrome&Hereditary_pheochromocytoma-paraganglioma&Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy&Mitochondrial_complex_II_deficiency&_nuclear_type_1¬_specified¬_provided;CSQ_gnomADg_AC=22883;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.740215;CSQ_gnomADe_AC=172135;CSQ_gnomADe_AN=245424;CSQ_gnomADe_AF=0.701378;CSQ_gnomADe_Hom=62110;CSQ_COSMICcMuts=COSV53767683&COSV53767683&COSV53767683;CSQ_COSMICncMuts=COSV53767683&COSV53767683;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHA:P249P&SDHA:P297P;CSQ_CADD_PHRED=8.079 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,51:130:0.39231:65:-100:0.1875:7,18,4,8,2,12,22,44,8,19,10,27:100:100 +5 233614 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=SDHA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/14;CSQ_INTRON=.;CSQ_Feature=NM_001294332.2;CSQ_HGVSc=NM_001294332.2:c.774C>G;CSQ_HGVSp=NP_001281261.1:p.Leu258%3D;CSQ_HGVSg=5:g.233614C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=252911;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Paragangliomas_5&Hereditary_cancer-predisposing_syndrome&Mitochondrial_complex_II_deficiency&_nuclear_type_1¬_specified;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.000129099;CSQ_gnomADe_AC=12;CSQ_gnomADe_AN=246270;CSQ_gnomADe_AF=4.8727e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.159 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,29:154:0.18831:65:-100:0.125:5,5,5,7,3,4,26,43,14,29,17,25:100:100 +5 233614 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=SDHA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/15;CSQ_INTRON=.;CSQ_Feature=NM_004168.4;CSQ_HGVSc=NM_004168.4:c.918C>G;CSQ_HGVSp=NP_004159.2:p.Leu306%3D;CSQ_HGVSg=5:g.233614C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=252911;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Paragangliomas_5&Hereditary_cancer-predisposing_syndrome&Mitochondrial_complex_II_deficiency&_nuclear_type_1¬_specified;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.000129099;CSQ_gnomADe_AC=12;CSQ_gnomADe_AN=246270;CSQ_gnomADe_AF=4.8727e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.159 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,29:154:0.18831:65:-100:0.125:5,5,5,7,3,4,26,43,14,29,17,25:100:100 +5 251696 . CA C 100 PASS DP=166;CSQ_Allele=-;CSQ_SYMBOL=SDHA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/13;CSQ_Feature=NM_001294332.2;CSQ_HGVSc=NM_001294332.2:c.1650+119del;CSQ_HGVSp=.;CSQ_HGVSg=5:g.251702del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,20:166:0.12048:65:-100:0:4,4,2,4,1,5,37,48,9,27,13,32:100:100 +5 251696 . CA C 100 PASS DP=166;CSQ_Allele=-;CSQ_SYMBOL=SDHA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_004168.4;CSQ_HGVSc=NM_004168.4:c.1794+119del;CSQ_HGVSp=.;CSQ_HGVSg=5:g.251702del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,20:166:0.12048:65:-100:0:4,4,2,4,1,5,37,48,9,27,13,32:100:100 +5 251792 . A G 100 PASS DP=84;CSQ_Allele=G;CSQ_SYMBOL=SDHA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/13;CSQ_Feature=NM_001294332.2;CSQ_HGVSc=NM_001294332.2:c.1650+209A>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.251792A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3395;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.109693;CSQ_gnomADe_AC=13456;CSQ_gnomADe_AN=133984;CSQ_gnomADe_AF=0.10043;CSQ_gnomADe_Hom=717;CSQ_COSMICcMuts=COSV53765604&COSV53765604&COSV53765604;CSQ_COSMICncMuts=COSV53765604;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHA:K517int&SDHA:K550int&SDHA:K598int;CSQ_CADD_PHRED=3.098 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,7:84:0.08333:65:-100:0.1515:2,2,0,2,0,1,12,26,7,10,8,21:94.107:100 +5 251792 . A G 100 PASS DP=84;CSQ_Allele=G;CSQ_SYMBOL=SDHA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_004168.4;CSQ_HGVSc=NM_004168.4:c.1794+209A>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.251792A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3395;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.109693;CSQ_gnomADe_AC=13456;CSQ_gnomADe_AN=133984;CSQ_gnomADe_AF=0.10043;CSQ_gnomADe_Hom=717;CSQ_COSMICcMuts=COSV53765604&COSV53765604&COSV53765604;CSQ_COSMICncMuts=COSV53765604;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHA:K517int&SDHA:K550int&SDHA:K598int;CSQ_CADD_PHRED=3.098 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,7:84:0.08333:65:-100:0.1515:2,2,0,2,0,1,12,26,7,10,8,21:94.107:100 +5 1295373 . C T 100 PASS DP=67;CSQ_Allele=T;CSQ_SYMBOL=TERT;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_198253.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.1295373C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1270988;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=947;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.0307228;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=COSV57246126&COSV57246126&COSV57246126&COSV57246126&COSV57246126&COSV57246126;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.993 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,7:67:0.10448:65:-100:0.141:1,2,3,0,1,0,19,11,16,3,12,6:96.774:100 +5 35861068 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=IL7R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_002185.5;CSQ_HGVSc=NM_002185.5:c.197T>C;CSQ_HGVSp=NP_002176.2:p.Ile66Thr;CSQ_HGVSg=5:g.35861068T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=14839;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_104¬_specified¬_provided;CSQ_gnomADg_AC=21140;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.68432;CSQ_gnomADe_AC=152154;CSQ_gnomADe_AN=245838;CSQ_gnomADe_AF=0.61892;CSQ_gnomADe_Hom=48639;CSQ_COSMICcMuts=COSV57405776&COSV57405776&COSV57405776&COSV57405776;CSQ_COSMICncMuts=COSV57405776&COSV57405776;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=0.091;CSQ_Mastermind_MMID3=IL7R:I66T;CSQ_CADD_PHRED=11.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,51:135:0.37778:65:-100:0.1615:14,18,3,6,3,7,29,47,8,23,10,18:100:100 +5 35867516 . G T 100 PASS DP=114;CSQ_Allele=T;CSQ_SYMBOL=IL7R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_002185.5;CSQ_HGVSc=NM_002185.5:c.330G>T;CSQ_HGVSp=NP_002176.2:p.Lys110Asn;CSQ_HGVSg=5:g.35867516G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57414424&COSV57414424&COSV57414424&COSV57414424;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.296;CSQ_Mastermind_MMID3=IL7R:K110N;CSQ_CADD_PHRED=14.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,13:114:0.11404:65:-100:0.1493:2,3,3,1,1,3,17,29,17,18,8,25:100:100 +5 35871190 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=IL7R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_002185.5;CSQ_HGVSc=NM_002185.5:c.412G>A;CSQ_HGVSp=NP_002176.2:p.Val138Ile;CSQ_HGVSg=5:g.35871190G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=14840;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_104¬_specified¬_provided;CSQ_gnomADg_AC=22399;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.725215;CSQ_gnomADe_AC=157347;CSQ_gnomADe_AN=245942;CSQ_gnomADe_AF=0.639773;CSQ_gnomADe_Hom=51928;CSQ_COSMICcMuts=COSV57406117&COSV57406117&COSV57406117;CSQ_COSMICncMuts=COSV57406117&COSV57406117&COSV57406117&COSV57406117&COSV57406117;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=0.228;CSQ_Mastermind_MMID3=IL7R:V138I;CSQ_CADD_PHRED=0.164 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,74:136:0.54412:65:-100:0.1447:18,19,5,13,7,12,30,32,15,20,15,24:100:100 +5 35871273 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=IL7R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_002185.5;CSQ_HGVSc=NM_002185.5:c.495C>T;CSQ_HGVSp=NP_002176.2:p.His165%3D;CSQ_HGVSg=5:g.35871273C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=137585;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_104¬_specified;CSQ_gnomADg_AC=3924;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.126761;CSQ_gnomADe_AC=31100;CSQ_gnomADe_AN=245840;CSQ_gnomADe_AF=0.126505;CSQ_gnomADe_Hom=2103;CSQ_COSMICcMuts=COSV57406213&COSV57406213&COSV57406213;CSQ_COSMICncMuts=COSV57406213&COSV57406213&COSV57406213&COSV57406213&COSV57406213;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.10;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IL7R:H165H;CSQ_CADD_PHRED=4.869 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,17:141:0.12057:65:-100:0.135:5,6,0,0,3,3,20,52,15,15,10,29:100:100 +5 35874575 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=IL7R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_002185.5;CSQ_HGVSc=NM_002185.5:c.731C>T;CSQ_HGVSp=NP_002176.2:p.Thr244Ile;CSQ_HGVSg=5:g.35874575C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134530;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_104¬_specified¬_provided;CSQ_gnomADg_AC=6764;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.218829;CSQ_gnomADe_AC=57325;CSQ_gnomADe_AN=246110;CSQ_gnomADe_AF=0.232924;CSQ_gnomADe_Hom=7239;CSQ_COSMICcMuts=COSV57406938&COSV57406938&COSV57406938;CSQ_COSMICncMuts=COSV57406938;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.222;CSQ_Mastermind_MMID3=IL7R:T244I;CSQ_CADD_PHRED=7.099 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,14:130:0.10769:65:-100:0.1333:1,2,4,5,1,1,14,47,11,30,15,13:100:100 +5 35876274 . A G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=IL7R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_002185.5;CSQ_HGVSc=NM_002185.5:c.1066A>G;CSQ_HGVSp=NP_002176.2:p.Ile356Val;CSQ_HGVSg=5:g.35876274A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134533;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_104¬_specified¬_provided;CSQ_gnomADg_AC=8762;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.283762;CSQ_gnomADe_AC=58712;CSQ_gnomADe_AN=245644;CSQ_gnomADe_AF=0.239013;CSQ_gnomADe_Hom=7740;CSQ_COSMICcMuts=COSV57411124&COSV57411124;CSQ_COSMICncMuts=COSV57411124&COSV57411124;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=0.019;CSQ_Mastermind_MMID3=IL7R:I356V;CSQ_CADD_PHRED=5.540 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,34:154:0.22078:65:-100:0.1492:7,11,2,6,3,5,29,55,10,30,9,21:100:100 +5 35876449 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=IL7R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_002185.5;CSQ_HGVSc=NM_002185.5:c.1241C>T;CSQ_HGVSp=NP_002176.2:p.Thr414Met;CSQ_HGVSg=5:g.35876449C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134536;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Immunodeficiency_104¬_specified;CSQ_gnomADg_AC=152;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00490924;CSQ_gnomADe_AC=2549;CSQ_gnomADe_AN=245422;CSQ_gnomADe_AF=0.0103862;CSQ_gnomADe_Hom=44;CSQ_COSMICcMuts=COSV57406871&COSV57406871;CSQ_COSMICncMuts=COSV57406871&COSV57406871;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.111;CSQ_Mastermind_MMID3=IL7R:T414M;CSQ_CADD_PHRED=4.029 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,18:137:0.13139:65:-100:0.1595:4,9,1,3,0,1,29,52,13,21,5,17:100:100 +5 38942449 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=RICTOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=39/39;CSQ_INTRON=.;CSQ_Feature=NM_001285439.2;CSQ_HGVSc=NM_001285439.2:c.5156C>T;CSQ_HGVSp=NP_001272368.1:p.Thr1719Ile;CSQ_HGVSg=5:g.38942449G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=691;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.0223668;CSQ_gnomADe_AC=6696;CSQ_gnomADe_AN=246046;CSQ_gnomADe_AF=0.0272144;CSQ_gnomADe_Hom=213;CSQ_COSMICcMuts=COSV104393810&COSV104393810;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=0.079;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,37:149:0.24832:65:-100:0.1629:6,10,2,5,9,5,29,34,12,22,30,22:100:100 +5 38942449 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=RICTOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=38/38;CSQ_INTRON=.;CSQ_Feature=NM_001285440.2;CSQ_HGVSc=NM_001285440.2:c.4115C>T;CSQ_HGVSp=NP_001272369.1:p.Thr1372Ile;CSQ_HGVSg=5:g.38942449G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=691;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.0223668;CSQ_gnomADe_AC=6696;CSQ_gnomADe_AN=246046;CSQ_gnomADe_AF=0.0272144;CSQ_gnomADe_Hom=213;CSQ_COSMICcMuts=COSV104393810&COSV104393810;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=0.079;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,37:149:0.24832:65:-100:0.1629:6,10,2,5,9,5,29,34,12,22,30,22:100:100 +5 38950776 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=RICTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/39;CSQ_INTRON=.;CSQ_Feature=NM_001285439.2;CSQ_HGVSc=NM_001285439.2:c.3174C>T;CSQ_HGVSp=NP_001272368.1:p.Ser1058%3D;CSQ_HGVSg=5:g.38950776G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29749;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.962377;CSQ_gnomADe_AC=234869;CSQ_gnomADe_AN=242438;CSQ_gnomADe_AF=0.96878;CSQ_gnomADe_Hom=113909;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RICTOR:S1058S&RICTOR:S773S;CSQ_CADD_PHRED=8.325 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,128:153:0.8366:65:-100:0.1:19,38,17,18,12,24,22,44,21,20,16,30:100:100 +5 38950776 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=RICTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/38;CSQ_INTRON=.;CSQ_Feature=NM_001285440.2;CSQ_HGVSc=NM_001285440.2:c.2319C>T;CSQ_HGVSp=NP_001272369.1:p.Ser773%3D;CSQ_HGVSg=5:g.38950776G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29749;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.962377;CSQ_gnomADe_AC=234869;CSQ_gnomADe_AN=242438;CSQ_gnomADe_AF=0.96878;CSQ_gnomADe_Hom=113909;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RICTOR:S1058S&RICTOR:S773S;CSQ_CADD_PHRED=8.325 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,128:153:0.8366:65:-100:0.1:19,38,17,18,12,24,22,44,21,20,16,30:100:100 +5 38955796 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=RICTOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=26/39;CSQ_INTRON=.;CSQ_Feature=NM_001285439.2;CSQ_HGVSc=NM_001285439.2:c.2510C>T;CSQ_HGVSp=NP_001272368.1:p.Ser837Phe;CSQ_HGVSg=5:g.38955796G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12022;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.389894;CSQ_gnomADe_AC=96667;CSQ_gnomADe_AN=245224;CSQ_gnomADe_AF=0.394199;CSQ_gnomADe_Hom=19537;CSQ_COSMICcMuts=COSV57117211&COSV57117211;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.049;CSQ_Mastermind_MMID3=RICTOR:S552F&RICTOR:S837F;CSQ_CADD_PHRED=21.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,66:131:0.50382:65:-100:0.1088:11,20,8,13,2,12,18,36,18,29,5,25:100:100 +5 38955796 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=RICTOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=26/38;CSQ_INTRON=.;CSQ_Feature=NM_001285440.2;CSQ_HGVSc=NM_001285440.2:c.1655C>T;CSQ_HGVSp=NP_001272369.1:p.Ser552Phe;CSQ_HGVSg=5:g.38955796G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12022;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.389894;CSQ_gnomADe_AC=96667;CSQ_gnomADe_AN=245224;CSQ_gnomADe_AF=0.394199;CSQ_gnomADe_Hom=19537;CSQ_COSMICcMuts=COSV57117211&COSV57117211;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.049;CSQ_Mastermind_MMID3=RICTOR:S552F&RICTOR:S837F;CSQ_CADD_PHRED=21.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,66:131:0.50382:65:-100:0.1088:11,20,8,13,2,12,18,36,18,29,5,25:100:100 +5 39074261 . C T 100 PASS DP=47;CSQ_Allele=T;CSQ_SYMBOL=RICTOR;CSQ_Consequence=splice_acceptor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=1/38;CSQ_Feature=NM_001285439.2;CSQ_HGVSc=NM_001285439.2:c.50-1G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.39074261C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.83;CSQ_SpliceAI_pred_DS_AL=0.99;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RICTOR:G17sa;CSQ_CADD_PHRED=35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,4:47:0.08511:65:-100:0.1296:0,0,1,0,3,0,14,8,10,4,10,1:67.43:100 +5 39074261 . C T 100 PASS DP=47;CSQ_Allele=T;CSQ_SYMBOL=RICTOR;CSQ_Consequence=splice_acceptor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=1/37;CSQ_Feature=NM_001285440.2;CSQ_HGVSc=NM_001285440.2:c.-804-1G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.39074261C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.83;CSQ_SpliceAI_pred_DS_AL=0.99;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RICTOR:G17sa;CSQ_CADD_PHRED=35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,4:47:0.08511:65:-100:0.1296:0,0,1,0,3,0,14,8,10,4,10,1:67.43:100 +5 44308041 . T A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.429+2488A>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44308041T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=127;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.00410233;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.031 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,11:115:0.09565:65:-100:0.08:1,4,1,1,1,3,15,38,11,20,8,23:100:100 +5 44310572 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=FGF10;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.386A>G;CSQ_HGVSp=NP_004456.1:p.Asn129Ser;CSQ_HGVSg=5:g.44310572T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52940485;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=0.410;CSQ_Mastermind_MMID3=FGF10:N129S;CSQ_CADD_PHRED=23.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,9:114:0.07895:65:-100:0.1094:0,3,1,1,3,1,18,33,12,18,16,17:100:100 +5 44311768 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.326-1136G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44311768C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9458;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.306719;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF10:S109int&FGF10:S109inta;CSQ_CADD_PHRED=1.740 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,15:118:0.12712:65:-100:0.1387:3,4,0,4,3,1,22,35,10,21,8,22:100:100 +5 44313282 . G T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.326-2650C>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44313282G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13613;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.44095;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF10:S109int&FGF10:S109inta;CSQ_CADD_PHRED=0.286 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,17:101:0.16832:65:-100:0.1855:0,8,1,4,2,2,16,41,7,13,7,17:100:100 +5 44313303 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.326-2671A>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44313303T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17110;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.554296;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF10:S109int&FGF10:S109inta;CSQ_CADD_PHRED=10.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,92:107:0.85981:65:-100:0.1955:15,34,9,11,5,18,15,39,9,15,6,23:100:100 +5 44327889 . C T 100 PASS DP=117;CSQ_Allele=T;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.326-17257G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44327889C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=489;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0157956;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,9:117:0.07692:65:-100:0.1203:2,5,0,2,0,0,17,38,14,19,17,12:100:100 +5 44328781 . T C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.326-18149A>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44328781T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.000355297;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.047 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,6:112:0.05357:65:-100:0.1942:0,4,1,0,1,0,14,35,16,19,7,21:67.171:100 +5 44328829 . A C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.326-18197T>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44328829A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17923;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.580032;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF10:S109int&FGF10:S109inta;CSQ_CADD_PHRED=2.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,94:109:0.86239:65:-100:0.1926:12,29,8,24,12,9,16,30,8,26,15,14:100:100 +5 44347791 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.326-37159G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44347791C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8146;CSQ_gnomADg_AN=30734;CSQ_gnomADg_AF=0.265048;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF10:S109int&FGF10:S109inta;CSQ_CADD_PHRED=1.816 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,22:135:0.16296:65:-100:0.0878:1,8,3,2,1,7,25,37,17,17,11,28:100:100 +5 44355326 . T C 100 PASS DP=99;CSQ_Allele=C;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.325+33134A>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44355326T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30284;CSQ_gnomADg_AN=30818;CSQ_gnomADg_AF=0.982672;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.016 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,99:99:1:65:-100:0.2667:14,39,1,24,10,11,14,39,1,24,10,11:100:100 +5 44355363 . T C 100 PASS DP=92;CSQ_Allele=C;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.325+33097A>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44355363T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20777;CSQ_gnomADg_AN=30730;CSQ_gnomADg_AF=0.676115;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF10:S109int&FGF10:S109intd;CSQ_CADD_PHRED=3.121 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:6,86:92:0.93478:65:-100:0.303:16,32,6,17,4,11,16,33,6,20,5,12:100:100 +5 44355825 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.325+32635C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44355825G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.209 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,10:136:0.07353:65:-97.8929:0.1282:0,6,2,0,1,1,24,47,12,14,12,27:100:100 +5 44361785 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.325+26675G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44361785C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30315;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.982531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,116:116:1:65:-100:0.1594:16,40,10,21,9,20,16,40,10,21,9,20:100:100 +5 44362769 . C T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.325+25691G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44362769C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16905;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.550186;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52935510;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF10:S109int&FGF10:S109intd;CSQ_CADD_PHRED=4.439 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:14,110:124:0.8871:65:-100:0.1268:16,32,11,11,13,27,20,36,13,14,14,27:100:100 +5 44377060 . G A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.325+11400C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44377060G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23528;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.763252;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF10:S109int&FGF10:S109intd;CSQ_CADD_PHRED=0.254 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:14,91:105:0.86667:65:-100:0.1463:16,23,15,12,10,15,18,29,16,15,12,15:100:100 +5 44377083 . G T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=FGF10;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_004465.2;CSQ_HGVSc=NM_004465.2:c.325+11377C>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.44377083G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30927;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.999128;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,121:121:1:65:-100:0.1479:19,42,20,16,8,16,19,42,20,16,8,16:100:100 +5 56161787 . G A 100 PASS DP=87;CSQ_Allele=A;CSQ_SYMBOL=MAP3K1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/20;CSQ_INTRON=.;CSQ_Feature=NM_005921.2;CSQ_HGVSc=NM_005921.2:c.1284G>A;CSQ_HGVSp=NP_005912.1:p.Thr428%3D;CSQ_HGVSg=5:g.56161787G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=518363;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=46&XY_sex_reversal_6¬_provided;CSQ_gnomADg_AC=26255;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.848085;CSQ_gnomADe_AC=207109;CSQ_gnomADe_AN=245748;CSQ_gnomADe_AF=0.84277;CSQ_gnomADe_Hom=88055;CSQ_COSMICcMuts=COSV68122263;CSQ_COSMICncMuts=COSV68122263;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K1:T428T;CSQ_CADD_PHRED=10.47 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,87:87:1:65:-100:0.2162:14,25,12,15,13,8,14,25,12,15,13,8:100:100 +5 56168712 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=MAP3K1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/20;CSQ_INTRON=.;CSQ_Feature=NM_005921.2;CSQ_HGVSc=NM_005921.2:c.1566C>T;CSQ_HGVSp=NP_005912.1:p.Thr522%3D;CSQ_HGVSg=5:g.56168712C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=471689;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=46&XY_sex_reversal_6¬_provided;CSQ_gnomADg_AC=1252;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0404393;CSQ_gnomADe_AC=11819;CSQ_gnomADe_AN=245812;CSQ_gnomADe_AF=0.0480815;CSQ_gnomADe_Hom=336;CSQ_COSMICcMuts=COSV68121965;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K1:T522T;CSQ_CADD_PHRED=0.157 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,6:112:0.05357:65:-47.5182:0.0744:0,1,0,1,0,4,17,41,13,20,5,16:64.104:100 +5 56177443 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=MAP3K1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/20;CSQ_INTRON=.;CSQ_Feature=NM_005921.2;CSQ_HGVSc=NM_005921.2:c.2416G>A;CSQ_HGVSp=NP_005912.1:p.Asp806Asn;CSQ_HGVSg=5:g.56177443G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=518364;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=46&XY_sex_reversal_6¬_provided;CSQ_gnomADg_AC=18726;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.606059;CSQ_gnomADe_AC=146215;CSQ_gnomADe_AN=245700;CSQ_gnomADe_AF=0.595096;CSQ_gnomADe_Hom=46827;CSQ_COSMICcMuts=COSV68121807;CSQ_COSMICncMuts=COSV68121807;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.152;CSQ_Mastermind_MMID3=MAP3K1:D806N;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,51:115:0.44348:65:-100:0.1154:5,12,5,13,4,12,23,26,5,22,12,27:100:100 +5 56177584 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=MAP3K1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/20;CSQ_INTRON=.;CSQ_Feature=NM_005921.2;CSQ_HGVSc=NM_005921.2:c.2557C>T;CSQ_HGVSp=NP_005912.1:p.Arg853Cys;CSQ_HGVSg=5:g.56177584C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=3.22997e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=245212;CSQ_gnomADe_AF=2.44686e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV68121603;CSQ_COSMICncMuts=COSV68121603;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.245;CSQ_Mastermind_MMID3=MAP3K1:R853C;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,17:137:0.12409:65:-100:0.1646:3,3,1,4,4,2,17,39,7,36,10,28:100:100 +5 56177743 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=MAP3K1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/20;CSQ_INTRON=.;CSQ_Feature=NM_005921.2;CSQ_HGVSc=NM_005921.2:c.2716G>A;CSQ_HGVSp=NP_005912.1:p.Val906Ile;CSQ_HGVSg=5:g.56177743G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=518365;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=46&XY_sex_reversal_6;CSQ_gnomADg_AC=23983;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.775998;CSQ_gnomADe_AC=186262;CSQ_gnomADe_AN=245616;CSQ_gnomADe_AF=0.758346;CSQ_gnomADe_Hom=71723;CSQ_COSMICcMuts=COSV68122270;CSQ_COSMICncMuts=COSV68122270;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.080;CSQ_Mastermind_MMID3=MAP3K1:V906I;CSQ_CADD_PHRED=3.814 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,110:127:0.86614:65:-100:0.1181:13,38,8,22,5,24,14,46,9,25,7,26:100:100 +5 56178111 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=MAP3K1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/20;CSQ_INTRON=.;CSQ_Feature=NM_005921.2;CSQ_HGVSc=NM_005921.2:c.3084A>G;CSQ_HGVSp=NP_005912.1:p.Gln1028%3D;CSQ_HGVSg=5:g.56178111A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1170263;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=46&XY_sex_reversal_6¬_provided;CSQ_gnomADg_AC=2312;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0747156;CSQ_gnomADe_AC=17651;CSQ_gnomADe_AN=245630;CSQ_gnomADe_AF=0.0718601;CSQ_gnomADe_Hom=706;CSQ_COSMICcMuts=COSV68121972;CSQ_COSMICncMuts=COSV68121972;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K1:Q1028Q;CSQ_CADD_PHRED=9.636 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,11:145:0.07586:65:-100:0.1369:2,5,1,1,0,2,19,48,17,29,11,21:100:100 +5 56178217 . A C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=MAP3K1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/20;CSQ_INTRON=.;CSQ_Feature=NM_005921.2;CSQ_HGVSc=NM_005921.2:c.3190A>C;CSQ_HGVSp=NP_005912.1:p.Arg1064%3D;CSQ_HGVSg=5:g.56178217A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=518366;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=46&XY_sex_reversal_6¬_provided;CSQ_gnomADg_AC=24000;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.776448;CSQ_gnomADe_AC=186340;CSQ_gnomADe_AN=245608;CSQ_gnomADe_AF=0.758689;CSQ_gnomADe_Hom=71789;CSQ_COSMICcMuts=COSV68122277;CSQ_COSMICncMuts=COSV68122277;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP3K1:R1064R;CSQ_CADD_PHRED=13.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:16,117:133:0.8797:65:-100:0.1307:20,40,11,20,7,19,26,46,12,21,8,20:100:100 +5 57751443 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=PLK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/14;CSQ_INTRON=.;CSQ_Feature=NM_006622.4;CSQ_HGVSc=NM_006622.4:c.1548T>C;CSQ_HGVSp=NP_006613.2:p.Phe516%3D;CSQ_HGVSg=5:g.57751443A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4529;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.146323;CSQ_gnomADe_AC=31889;CSQ_gnomADe_AN=245494;CSQ_gnomADe_AF=0.129897;CSQ_gnomADe_Hom=2707;CSQ_COSMICcMuts=COSV57110464;CSQ_COSMICncMuts=COSV57110464&COSV57110464&COSV57110464&COSV57110464&COSV57110464&COSV57110464&COSV57110464&COSV57110464&COSV57110464&COSV57110464;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLK2:F502F&PLK2:F516F;CSQ_CADD_PHRED=11.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,51:161:0.31677:65:-100:0.1297:4,15,3,9,6,14,20,45,15,30,19,32:100:100 +5 57753116 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=PLK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/14;CSQ_INTRON=.;CSQ_Feature=NM_006622.4;CSQ_HGVSc=NM_006622.4:c.900G>A;CSQ_HGVSp=NP_006613.2:p.Pro300%3D;CSQ_HGVSg=5:g.57753116C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4454;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.143975;CSQ_gnomADe_AC=31896;CSQ_gnomADe_AN=245996;CSQ_gnomADe_AF=0.129661;CSQ_gnomADe_Hom=2691;CSQ_COSMICcMuts=COSV57110478;CSQ_COSMICncMuts=COSV57110478&COSV57110478&COSV57110478&COSV57110478&COSV57110478&COSV57110478&COSV57110478&COSV57110478&COSV57110478;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLK2:P286P&PLK2:P300P;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,45:147:0.30612:65:-100:0.1648:4,25,1,4,2,9,21,62,6,25,10,23:100:100 +5 57753149 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=PLK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/14;CSQ_INTRON=.;CSQ_Feature=NM_006622.4;CSQ_HGVSc=NM_006622.4:c.867T>C;CSQ_HGVSp=NP_006613.2:p.Tyr289%3D;CSQ_HGVSg=5:g.57753149A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4406;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.142349;CSQ_gnomADe_AC=31703;CSQ_gnomADe_AN=246040;CSQ_gnomADe_AF=0.128853;CSQ_gnomADe_Hom=2668;CSQ_COSMICcMuts=COSV57110490;CSQ_COSMICncMuts=COSV57110490&COSV57110490&COSV57110490&COSV57110490&COSV57110490&COSV57110490&COSV57110490&COSV57110490;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLK2:Y275Y&PLK2:Y289Y;CSQ_CADD_PHRED=10.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,38:122:0.31148:65:-100:0.1223:3,19,1,8,1,6,14,52,6,23,6,21:100:100 +5 57754851 . A G 100 PASS DP=105;CSQ_Allele=G;CSQ_SYMBOL=PLK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/14;CSQ_INTRON=.;CSQ_Feature=NM_006622.4;CSQ_HGVSc=NM_006622.4:c.339T>C;CSQ_HGVSp=NP_006613.2:p.Ile113%3D;CSQ_HGVSg=5:g.57754851A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4364;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.141011;CSQ_gnomADe_AC=29142;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=0.118392;CSQ_gnomADe_Hom=2215;CSQ_COSMICcMuts=COSV57107363;CSQ_COSMICncMuts=COSV57107363&COSV57107363&COSV57107363&COSV57107363&COSV57107363&COSV57107363&COSV57107363&COSV57107363&COSV57107363;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLK2:I113I&PLK2:I99I;CSQ_CADD_PHRED=13.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,44:105:0.41905:65:-100:0.1532:8,13,6,9,6,2,20,31,10,23,10,11:100:100 +5 57755703 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=PLK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/14;CSQ_INTRON=.;CSQ_Feature=NM_006622.4;CSQ_HGVSc=NM_006622.4:c.84G>A;CSQ_HGVSp=NP_006613.2:p.Ala28%3D;CSQ_HGVSg=5:g.57755703C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9573;CSQ_gnomADg_AN=30788;CSQ_gnomADg_AF=0.310933;CSQ_gnomADe_AC=90247;CSQ_gnomADe_AN=239524;CSQ_gnomADe_AF=0.376776;CSQ_gnomADe_Hom=17770;CSQ_COSMICcMuts=COSV57106958;CSQ_COSMICncMuts=COSV57106958&COSV57106958&COSV57106958&COSV57106958&COSV57106958&COSV57106958&COSV57106958&COSV57106958&COSV57106958&COSV57106958&COSV57106958&COSV57106958;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLK2:A28A;CSQ_CADD_PHRED=12.42 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,23:106:0.21698:65:-100:0.1846:2,10,0,1,5,5,19,27,8,18,16,18:100:100 +5 67522722 . C T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=PIK3R1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/16;CSQ_INTRON=.;CSQ_Feature=NM_181523.3;CSQ_HGVSc=NM_181523.3:c.219C>T;CSQ_HGVSp=NP_852664.1:p.Tyr73%3D;CSQ_HGVSg=5:g.67522722C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159722;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=SHORT_syndrome&Agammaglobulinemia_7&_autosomal_recessive&Immunodeficiency_36¬_specified¬_provided;CSQ_gnomADg_AC=9796;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.317598;CSQ_gnomADe_AC=77153;CSQ_gnomADe_AN=246080;CSQ_gnomADe_AF=0.313528;CSQ_gnomADe_Hom=14130;CSQ_COSMICcMuts=COSV57124721&COSV57124721&COSV57124721&COSV57124721;CSQ_COSMICncMuts=COSV57124721;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3R1:Y73Y;CSQ_CADD_PHRED=1.298 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,35:145:0.24138:65:-100:0.1899:7,17,2,3,1,5,28,57,10,18,6,26:100:100 +5 67588148 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=PIK3R1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001242466.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.67588148G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135039;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=SHORT_syndrome&Agammaglobulinemia_7&_autosomal_recessive&Immunodeficiency_36¬_specified¬_provided;CSQ_gnomADg_AC=6646;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.214956;CSQ_gnomADe_AC=43538;CSQ_gnomADe_AN=245906;CSQ_gnomADe_AF=0.177051;CSQ_gnomADe_Hom=4710;CSQ_COSMICcMuts=COSV57127731&COSV57127731&COSV57127731&COSV57127731&COSV57127731&COSV57127731;CSQ_COSMICncMuts=COSV57127731&COSV57127731&COSV57127731;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,18:143:0.12587:65:-100:0.1538:1,9,2,1,0,5,20,50,13,25,12,23:100:100 +5 67588148 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=PIK3R1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_181504.4;CSQ_HGVSc=NM_181504.4:c.168G>A;CSQ_HGVSp=NP_852556.2:p.Met56Ile;CSQ_HGVSg=5:g.67588148G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135039;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=SHORT_syndrome&Agammaglobulinemia_7&_autosomal_recessive&Immunodeficiency_36¬_specified¬_provided;CSQ_gnomADg_AC=6646;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.214956;CSQ_gnomADe_AC=43538;CSQ_gnomADe_AN=245906;CSQ_gnomADe_AF=0.177051;CSQ_gnomADe_Hom=4710;CSQ_COSMICcMuts=COSV57127731&COSV57127731&COSV57127731&COSV57127731&COSV57127731&COSV57127731;CSQ_COSMICncMuts=COSV57127731&COSV57127731&COSV57127731;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.086;CSQ_Mastermind_MMID3=PIK3R1:M26I&PIK3R1:M326I&PIK3R1:M56I;CSQ_CADD_PHRED=21.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,18:143:0.12587:65:-100:0.1538:1,9,2,1,0,5,20,50,13,25,12,23:100:100 +5 67588148 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=PIK3R1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/16;CSQ_INTRON=.;CSQ_Feature=NM_181523.3;CSQ_HGVSc=NM_181523.3:c.978G>A;CSQ_HGVSp=NP_852664.1:p.Met326Ile;CSQ_HGVSg=5:g.67588148G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135039;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=SHORT_syndrome&Agammaglobulinemia_7&_autosomal_recessive&Immunodeficiency_36¬_specified¬_provided;CSQ_gnomADg_AC=6646;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.214956;CSQ_gnomADe_AC=43538;CSQ_gnomADe_AN=245906;CSQ_gnomADe_AF=0.177051;CSQ_gnomADe_Hom=4710;CSQ_COSMICcMuts=COSV57127731&COSV57127731&COSV57127731&COSV57127731&COSV57127731&COSV57127731;CSQ_COSMICncMuts=COSV57127731&COSV57127731&COSV57127731;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.086;CSQ_Mastermind_MMID3=PIK3R1:M26I&PIK3R1:M326I&PIK3R1:M56I;CSQ_CADD_PHRED=21.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,18:143:0.12587:65:-100:0.1538:1,9,2,1,0,5,20,50,13,25,12,23:100:100 +5 67589188 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PIK3R1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_001242466.2;CSQ_HGVSc=NM_001242466.2:c.87C>T;CSQ_HGVSp=NP_001229395.1:p.Phe29%3D;CSQ_HGVSg=5:g.67589188C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159720;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=SHORT_syndrome&Agammaglobulinemia_7&_autosomal_recessive&Immunodeficiency_36¬_specified¬_provided;CSQ_gnomADg_AC=1510;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0488294;CSQ_gnomADe_AC=13744;CSQ_gnomADe_AN=241596;CSQ_gnomADe_AF=0.0568884;CSQ_gnomADe_Hom=687;CSQ_COSMICcMuts=COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112;CSQ_COSMICncMuts=COSV57123112&COSV57123112;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3R1:F122F&PIK3R1:F29F&PIK3R1:F392F&PIK3R1:F92F;CSQ_CADD_PHRED=12.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-97.4473:0.155:4,2,0,1,0,3,21,37,9,15,8,19:100:100 +5 67589188 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PIK3R1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_181504.4;CSQ_HGVSc=NM_181504.4:c.366C>T;CSQ_HGVSp=NP_852556.2:p.Phe122%3D;CSQ_HGVSg=5:g.67589188C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159720;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=SHORT_syndrome&Agammaglobulinemia_7&_autosomal_recessive&Immunodeficiency_36¬_specified¬_provided;CSQ_gnomADg_AC=1510;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0488294;CSQ_gnomADe_AC=13744;CSQ_gnomADe_AN=241596;CSQ_gnomADe_AF=0.0568884;CSQ_gnomADe_Hom=687;CSQ_COSMICcMuts=COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112;CSQ_COSMICncMuts=COSV57123112&COSV57123112;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3R1:F122F&PIK3R1:F29F&PIK3R1:F392F&PIK3R1:F92F;CSQ_CADD_PHRED=12.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-97.4473:0.155:4,2,0,1,0,3,21,37,9,15,8,19:100:100 +5 67589188 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PIK3R1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/16;CSQ_INTRON=.;CSQ_Feature=NM_181523.3;CSQ_HGVSc=NM_181523.3:c.1176C>T;CSQ_HGVSp=NP_852664.1:p.Phe392%3D;CSQ_HGVSg=5:g.67589188C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159720;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=SHORT_syndrome&Agammaglobulinemia_7&_autosomal_recessive&Immunodeficiency_36¬_specified¬_provided;CSQ_gnomADg_AC=1510;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0488294;CSQ_gnomADe_AC=13744;CSQ_gnomADe_AN=241596;CSQ_gnomADe_AF=0.0568884;CSQ_gnomADe_Hom=687;CSQ_COSMICcMuts=COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112&COSV57123112;CSQ_COSMICncMuts=COSV57123112&COSV57123112;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3R1:F122F&PIK3R1:F29F&PIK3R1:F392F&PIK3R1:F92F;CSQ_CADD_PHRED=12.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-97.4473:0.155:4,2,0,1,0,3,21,37,9,15,8,19:100:100 +5 79950781 . A G 100 PASS DP=14;CSQ_Allele=G;CSQ_SYMBOL=MSH3;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/24;CSQ_INTRON=.;CSQ_Feature=NM_002439.5;CSQ_HGVSc=NM_002439.5:c.235A>G;CSQ_HGVSp=NP_002430.3:p.Ile79Val;CSQ_HGVSg=5:g.79950781A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=402591;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Constitutional_megaloblastic_anemia_with_severe_neurologic_disease&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=23818;CSQ_gnomADg_AN=30194;CSQ_gnomADg_AF=0.788832;CSQ_gnomADe_AC=67323;CSQ_gnomADe_AN=78532;CSQ_gnomADe_AF=0.857268;CSQ_gnomADe_Hom=29439;CSQ_COSMICcMuts=COSV54144023&COSV54144023;CSQ_COSMICncMuts=COSV54144023&COSV54144023&COSV54144023&COSV54144023&COSV54144023&COSV54144023&COSV54144023&COSV54144023;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.43;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.242;CSQ_Mastermind_MMID3=DHFR:5UTR&MSH3:I79V&MSH3:I79srd;CSQ_CADD_PHRED=0.263 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:4,10:14:0.71429:65:-100:0.44:3,2,2,1,1,1,5,3,2,1,1,2:100:100 +5 79966029 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=MSH3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/24;CSQ_INTRON=.;CSQ_Feature=NM_002439.5;CSQ_HGVSc=NM_002439.5:c.693G>A;CSQ_HGVSp=NP_002430.3:p.Pro231%3D;CSQ_HGVSg=5:g.79966029G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=810935;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3896;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.126084;CSQ_gnomADe_AC=32927;CSQ_gnomADe_AN=246192;CSQ_gnomADe_AF=0.133745;CSQ_gnomADe_Hom=4019;CSQ_COSMICcMuts=COSV54159336;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MSH3:P231P;CSQ_CADD_PHRED=2.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,27:143:0.18881:65:-100:0.1386:5,9,2,4,2,5,31,51,11,21,8,21:100:100 +5 80149981 . A G 100 PASS DP=111;CSQ_Allele=G;CSQ_SYMBOL=MSH3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/24;CSQ_INTRON=.;CSQ_Feature=NM_002439.5;CSQ_HGVSc=NM_002439.5:c.2846A>G;CSQ_HGVSp=NP_002430.3:p.Gln949Arg;CSQ_HGVSg=5:g.80149981A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=821892;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=26937;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.871127;CSQ_gnomADe_AC=214386;CSQ_gnomADe_AN=245482;CSQ_gnomADe_AF=0.873327;CSQ_gnomADe_Hom=93891;CSQ_COSMICcMuts=COSV54143790;CSQ_COSMICncMuts=COSV54143790;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=0.281;CSQ_Mastermind_MMID3=MSH3:Q949R;CSQ_CADD_PHRED=14.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,111:111:1:65:-100:0.1898:17,40,10,18,7,19,17,40,10,18,7,19:100:100 +5 80168937 . G A 100 PASS DP=79;CSQ_Allele=A;CSQ_SYMBOL=MSH3;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/24;CSQ_INTRON=.;CSQ_Feature=NM_002439.5;CSQ_HGVSc=NM_002439.5:c.3133G>A;CSQ_HGVSp=NP_002430.3:p.Ala1045Thr;CSQ_HGVSg=5:g.80168937G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=822964;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=21895;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.708301;CSQ_gnomADe_AC=179551;CSQ_gnomADe_AN=245968;CSQ_gnomADe_AF=0.729977;CSQ_gnomADe_Hom=65714;CSQ_COSMICcMuts=COSV54143807;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.108;CSQ_Mastermind_MMID3=MSH3:A1045T&MSH3:G1044sra;CSQ_CADD_PHRED=4.626 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,70:79:0.88608:65:-100:0.1413:11,26,9,12,7,5,12,30,9,14,8,6:100:100 +5 112043492 . C A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.78C>A;CSQ_HGVSp=NP_001120983.2:p.Ser26Arg;CSQ_HGVSg=5:g.112043492C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133505;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome&Familial_adenomatous_polyposis_1¬_specified;CSQ_gnomADg_AC=255;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.00824549;CSQ_gnomADe_AC=249;CSQ_gnomADe_AN=130046;CSQ_gnomADe_AF=0.00191471;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV71823710;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.383;CSQ_Mastermind_MMID3=APC:5UTR&APC:S26R;CSQ_CADD_PHRED=19.92 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.2214:1,8,0,3,0,0,15,48,4,15,7,20:100:100 +5 112162854 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.1458T>C;CSQ_HGVSp=NP_001120982.1:p.Tyr486%3D;CSQ_HGVSg=5:g.112162854T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42238;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Neoplasm_of_stomach&Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer&Desmoid_disease&_hereditary¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=14502;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.469199;CSQ_gnomADe_AC=143908;CSQ_gnomADe_AN=245824;CSQ_gnomADe_AF=0.585411;CSQ_gnomADe_Hom=43904;CSQ_COSMICcMuts=COSV57321592&COSV57321592&COSV57321592;CSQ_COSMICncMuts=COSV57321592&COSV57321592&COSV57321592;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:Y203Y&APC:Y326Y&APC:Y360Y&APC:Y385Y&APC:Y395Y&APC:Y427Y&APC:Y445Y&APC:Y458Y&APC:Y461Y&APC:Y468Y&APC:Y486Y&APC:Y496Y&APC:Y504Y;CSQ_CADD_PHRED=10.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,69:135:0.51111:65:-100:0.0878:9,16,7,19,7,11,23,38,13,28,13,20:100:100 +5 112162854 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.1404T>C;CSQ_HGVSp=NP_001120983.2:p.Tyr468%3D;CSQ_HGVSg=5:g.112162854T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42238;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Neoplasm_of_stomach&Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer&Desmoid_disease&_hereditary¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=14502;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.469199;CSQ_gnomADe_AC=143908;CSQ_gnomADe_AN=245824;CSQ_gnomADe_AF=0.585411;CSQ_gnomADe_Hom=43904;CSQ_COSMICcMuts=COSV57321592&COSV57321592&COSV57321592;CSQ_COSMICncMuts=COSV57321592&COSV57321592&COSV57321592;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:Y203Y&APC:Y326Y&APC:Y360Y&APC:Y385Y&APC:Y395Y&APC:Y427Y&APC:Y445Y&APC:Y458Y&APC:Y461Y&APC:Y468Y&APC:Y486Y&APC:Y496Y&APC:Y504Y;CSQ_CADD_PHRED=10.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,69:135:0.51111:65:-100:0.0878:9,16,7,19,7,11,23,38,13,28,13,20:100:100 +5 112164561 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.1635G>A;CSQ_HGVSp=NP_001120982.1:p.Ala545%3D;CSQ_HGVSg=5:g.112164561G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42239;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18343;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.592704;CSQ_gnomADe_AC=159619;CSQ_gnomADe_AN=245832;CSQ_gnomADe_AF=0.649301;CSQ_gnomADe_Hom=52792;CSQ_COSMICcMuts=COSV57321606&COSV57321606&COSV57321606;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:A262A&APC:A385A&APC:A419A&APC:A444A&APC:A454A&APC:A486A&APC:A504A&APC:A517A&APC:A520A&APC:A527A&APC:A545A&APC:A555A&APC:A563A;CSQ_CADD_PHRED=12.40 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,87:125:0.696:65:-100:0.1379:14,29,5,14,10,15,24,41,9,19,13,19:100:100 +5 112164561 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.1581G>A;CSQ_HGVSp=NP_001120983.2:p.Ala527%3D;CSQ_HGVSg=5:g.112164561G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42239;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18343;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.592704;CSQ_gnomADe_AC=159619;CSQ_gnomADe_AN=245832;CSQ_gnomADe_AF=0.649301;CSQ_gnomADe_Hom=52792;CSQ_COSMICcMuts=COSV57321606&COSV57321606&COSV57321606;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:A262A&APC:A385A&APC:A419A&APC:A444A&APC:A454A&APC:A486A&APC:A504A&APC:A517A&APC:A520A&APC:A527A&APC:A545A&APC:A555A&APC:A563A;CSQ_CADD_PHRED=12.40 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,87:125:0.696:65:-100:0.1379:14,29,5,14,10,15,24,41,9,19,13,19:100:100 +5 112175651 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.4360A>G;CSQ_HGVSp=NP_001120982.1:p.Lys1454Glu;CSQ_HGVSg=5:g.112175651A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=127295;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(9)&Likely_benign(4);CSQ_ClinVar_CLNDN=Colorectal_adenoma&Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=75;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00242217;CSQ_gnomADe_AC=138;CSQ_gnomADe_AN=245990;CSQ_gnomADe_AF=0.000560998;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV57320740&COSV57320740&COSV57320740;CSQ_COSMICncMuts=COSV57320740&COSV57320740&COSV57320740&COSV57320740&COSV57320740;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=0.554;CSQ_Mastermind_MMID3=APC:K1171E&APC:K1294E&APC:K1328E&APC:K1353E&APC:K1363E&APC:K1395E&APC:K1413E&APC:K1426E&APC:K1429E&APC:K1436E&APC:K1454E&APC:K1464E&APC:K1472E;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1713:3,6,0,3,1,1,22,52,7,26,19,24:100:100 +5 112175651 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.4306A>G;CSQ_HGVSp=NP_001120983.2:p.Lys1436Glu;CSQ_HGVSg=5:g.112175651A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=127295;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(9)&Likely_benign(4);CSQ_ClinVar_CLNDN=Colorectal_adenoma&Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=75;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00242217;CSQ_gnomADe_AC=138;CSQ_gnomADe_AN=245990;CSQ_gnomADe_AF=0.000560998;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV57320740&COSV57320740&COSV57320740;CSQ_COSMICncMuts=COSV57320740&COSV57320740&COSV57320740&COSV57320740&COSV57320740;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=0.554;CSQ_Mastermind_MMID3=APC:K1171E&APC:K1294E&APC:K1328E&APC:K1353E&APC:K1363E&APC:K1395E&APC:K1413E&APC:K1426E&APC:K1429E&APC:K1436E&APC:K1454E&APC:K1464E&APC:K1472E;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1713:3,6,0,3,1,1,22,52,7,26,19,24:100:100 +5 112175770 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.4479G>A;CSQ_HGVSp=NP_001120982.1:p.Thr1493%3D;CSQ_HGVSg=5:g.112175770G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42242;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Gastric_cancer&Carcinoma_of_colon&Colorectal_cancer&Hereditary_cancer-predisposing_syndrome&Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer&Desmoid_disease&_hereditary¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18313;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.593345;CSQ_gnomADe_AC=159537;CSQ_gnomADe_AN=245600;CSQ_gnomADe_AF=0.649581;CSQ_gnomADe_Hom=52779;CSQ_COSMICcMuts=COSV57321403&COSV57321403&COSV57321403;CSQ_COSMICncMuts=COSV57321403&COSV57321403&COSV57321403&COSV57321403&COSV57321403;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:T1210T&APC:T1333T&APC:T1367T&APC:T1392T&APC:T1402T&APC:T1434T&APC:T1452T&APC:T1465T&APC:T1468T&APC:T1475T&APC:T1493T&APC:T1503T&APC:T1511T;CSQ_CADD_PHRED=8.194 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,97:127:0.76378:65:-100:0.1962:10,41,8,15,3,20,17,55,10,16,4,25:100:100 +5 112175770 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.4425G>A;CSQ_HGVSp=NP_001120983.2:p.Thr1475%3D;CSQ_HGVSg=5:g.112175770G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42242;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Gastric_cancer&Carcinoma_of_colon&Colorectal_cancer&Hereditary_cancer-predisposing_syndrome&Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer&Desmoid_disease&_hereditary¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18313;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.593345;CSQ_gnomADe_AC=159537;CSQ_gnomADe_AN=245600;CSQ_gnomADe_AF=0.649581;CSQ_gnomADe_Hom=52779;CSQ_COSMICcMuts=COSV57321403&COSV57321403&COSV57321403;CSQ_COSMICncMuts=COSV57321403&COSV57321403&COSV57321403&COSV57321403&COSV57321403;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:T1210T&APC:T1333T&APC:T1367T&APC:T1392T&APC:T1402T&APC:T1434T&APC:T1452T&APC:T1465T&APC:T1468T&APC:T1475T&APC:T1493T&APC:T1503T&APC:T1511T;CSQ_CADD_PHRED=8.194 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,97:127:0.76378:65:-100:0.1962:10,41,8,15,3,20,17,55,10,16,4,25:100:100 +5 112176184 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.4893T>C;CSQ_HGVSp=NP_001120982.1:p.Ser1631%3D;CSQ_HGVSg=5:g.112176184T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=132688;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=75;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.00242342;CSQ_gnomADe_AC=136;CSQ_gnomADe_AN=246002;CSQ_gnomADe_AF=0.000552841;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV104379199&COSV104379199&COSV104379199;CSQ_COSMICncMuts=COSV104379199&COSV104379199&COSV104379199&COSV104379199&COSV104379199;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:S1530S&APC:S1631S;CSQ_CADD_PHRED=8.400 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,15:157:0.09554:65:-100:0.178:4,7,1,1,0,2,26,57,14,27,7,26:100:100 +5 112176184 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.4839T>C;CSQ_HGVSp=NP_001120983.2:p.Ser1613%3D;CSQ_HGVSg=5:g.112176184T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=132688;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=75;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.00242342;CSQ_gnomADe_AC=136;CSQ_gnomADe_AN=246002;CSQ_gnomADe_AF=0.000552841;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV104379199&COSV104379199&COSV104379199;CSQ_COSMICncMuts=COSV104379199&COSV104379199&COSV104379199&COSV104379199&COSV104379199;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.400 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,15:157:0.09554:65:-100:0.178:4,7,1,1,0,2,26,57,14,27,7,26:100:100 +5 112176325 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.5034G>A;CSQ_HGVSp=NP_001120982.1:p.Gly1678%3D;CSQ_HGVSg=5:g.112176325G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42243;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18396;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.595571;CSQ_gnomADe_AC=159652;CSQ_gnomADe_AN=244700;CSQ_gnomADe_AF=0.65244;CSQ_gnomADe_Hom=53006;CSQ_COSMICcMuts=COSV57321627&COSV57321627&COSV57321627;CSQ_COSMICncMuts=COSV57321627&COSV57321627&COSV57321627&COSV57321627&COSV57321627;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:G1395G&APC:G1518G&APC:G1552G&APC:G1577G&APC:G1587G&APC:G1619G&APC:G1637G&APC:G1650G&APC:G1653G&APC:G1660G&APC:G1678G&APC:G1688G&APC:G1696G;CSQ_CADD_PHRED=4.520 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,107:157:0.68153:65:-100:0.1649:16,39,7,19,10,16,20,55,10,27,17,28:100:100 +5 112176325 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.4980G>A;CSQ_HGVSp=NP_001120983.2:p.Gly1660%3D;CSQ_HGVSg=5:g.112176325G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42243;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18396;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.595571;CSQ_gnomADe_AC=159652;CSQ_gnomADe_AN=244700;CSQ_gnomADe_AF=0.65244;CSQ_gnomADe_Hom=53006;CSQ_COSMICcMuts=COSV57321627&COSV57321627&COSV57321627;CSQ_COSMICncMuts=COSV57321627&COSV57321627&COSV57321627&COSV57321627&COSV57321627;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:G1395G&APC:G1518G&APC:G1552G&APC:G1577G&APC:G1587G&APC:G1619G&APC:G1637G&APC:G1650G&APC:G1653G&APC:G1660G&APC:G1678G&APC:G1688G&APC:G1696G;CSQ_CADD_PHRED=4.520 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,107:157:0.68153:65:-100:0.1649:16,39,7,19,10,16,20,55,10,27,17,28:100:100 +5 112176559 . T G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.5268T>G;CSQ_HGVSp=NP_001120982.1:p.Ser1756%3D;CSQ_HGVSg=5:g.112176559T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42245;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18362;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.594239;CSQ_gnomADe_AC=159750;CSQ_gnomADe_AN=245272;CSQ_gnomADe_AF=0.651318;CSQ_gnomADe_Hom=52989;CSQ_COSMICcMuts=COSV57321636&COSV57321636&COSV57321636;CSQ_COSMICncMuts=COSV57321636&COSV57321636&COSV57321636&COSV57321636&COSV57321636;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:S1473S&APC:S1596S&APC:S1630S&APC:S1655S&APC:S1665S&APC:S1697S&APC:S1715S&APC:S1728S&APC:S1731S&APC:S1738S&APC:S1756S&APC:S1766S&APC:S1774S;CSQ_CADD_PHRED=0.054 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,95:128:0.74219:65:-100:0.1467:20,26,8,18,6,17,27,34,12,25,7,23:100:100 +5 112176559 . T G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.5214T>G;CSQ_HGVSp=NP_001120983.2:p.Ser1738%3D;CSQ_HGVSg=5:g.112176559T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42245;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18362;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.594239;CSQ_gnomADe_AC=159750;CSQ_gnomADe_AN=245272;CSQ_gnomADe_AF=0.651318;CSQ_gnomADe_Hom=52989;CSQ_COSMICcMuts=COSV57321636&COSV57321636&COSV57321636;CSQ_COSMICncMuts=COSV57321636&COSV57321636&COSV57321636&COSV57321636&COSV57321636;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:S1473S&APC:S1596S&APC:S1630S&APC:S1655S&APC:S1665S&APC:S1697S&APC:S1715S&APC:S1728S&APC:S1731S&APC:S1738S&APC:S1756S&APC:S1766S&APC:S1774S;CSQ_CADD_PHRED=0.054 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,95:128:0.74219:65:-100:0.1467:20,26,8,18,6,17,27,34,12,25,7,23:100:100 +5 112176756 . T A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.5465T>A;CSQ_HGVSp=NP_001120982.1:p.Val1822Asp;CSQ_HGVSg=5:g.112176756T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=21030;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=25094;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.811316;CSQ_gnomADe_AC=194769;CSQ_gnomADe_AN=245374;CSQ_gnomADe_AF=0.793764;CSQ_gnomADe_Hom=77927;CSQ_COSMICcMuts=COSV57321643&COSV57321643&COSV57321643;CSQ_COSMICncMuts=COSV57321643&COSV57321643&COSV57321643&COSV57321643&COSV57321643;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.190;CSQ_Mastermind_MMID3=APC:V1539D&APC:V1662D&APC:V1696D&APC:V1721D&APC:V1731D&APC:V1763D&APC:V1781D&APC:V1794D&APC:V1797D&APC:V1804D&APC:V1822D&APC:V1832D&APC:V1840D;CSQ_CADD_PHRED=18.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,75:110:0.68182:65:-100:0.1667:10,25,5,15,6,14,16,39,6,19,10,20:100:100 +5 112176756 . T A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.5411T>A;CSQ_HGVSp=NP_001120983.2:p.Val1804Asp;CSQ_HGVSg=5:g.112176756T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=21030;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_multiple_polyposis_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=25094;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.811316;CSQ_gnomADe_AC=194769;CSQ_gnomADe_AN=245374;CSQ_gnomADe_AF=0.793764;CSQ_gnomADe_Hom=77927;CSQ_COSMICcMuts=COSV57321643&COSV57321643&COSV57321643;CSQ_COSMICncMuts=COSV57321643&COSV57321643&COSV57321643&COSV57321643&COSV57321643;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.190;CSQ_Mastermind_MMID3=APC:V1539D&APC:V1662D&APC:V1696D&APC:V1721D&APC:V1731D&APC:V1763D&APC:V1781D&APC:V1794D&APC:V1797D&APC:V1804D&APC:V1822D&APC:V1832D&APC:V1840D;CSQ_CADD_PHRED=18.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,75:110:0.68182:65:-100:0.1667:10,25,5,15,6,14,16,39,6,19,10,20:100:100 +5 112177171 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.5880G>A;CSQ_HGVSp=NP_001120982.1:p.Pro1960%3D;CSQ_HGVSg=5:g.112177171G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42247;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18392;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.595172;CSQ_gnomADe_AC=159530;CSQ_gnomADe_AN=245532;CSQ_gnomADe_AF=0.649732;CSQ_gnomADe_Hom=52777;CSQ_COSMICcMuts=COSV57321652&COSV57321652&COSV57321652;CSQ_COSMICncMuts=COSV57321652&COSV57321652&COSV57321652&COSV57321652&COSV57321652;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:P1677P&APC:P1800P&APC:P1834P&APC:P1859P&APC:P1869P&APC:P1901P&APC:P1919P&APC:P1932P&APC:P1935P&APC:P1942P&APC:P1960P&APC:P1970P&APC:P1978P;CSQ_CADD_PHRED=8.954 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,97:141:0.68794:65:-100:0.185:12,34,7,20,9,15,23,46,8,25,12,27:100:100 +5 112177171 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=APC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.5826G>A;CSQ_HGVSp=NP_001120983.2:p.Pro1942%3D;CSQ_HGVSg=5:g.112177171G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=42247;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1&Familial_colorectal_cancer¬_specified&APC-Associated_Polyposis_Disorders¬_provided;CSQ_gnomADg_AC=18392;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.595172;CSQ_gnomADe_AC=159530;CSQ_gnomADe_AN=245532;CSQ_gnomADe_AF=0.649732;CSQ_gnomADe_Hom=52777;CSQ_COSMICcMuts=COSV57321652&COSV57321652&COSV57321652;CSQ_COSMICncMuts=COSV57321652&COSV57321652&COSV57321652&COSV57321652&COSV57321652;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=APC:P1677P&APC:P1800P&APC:P1834P&APC:P1859P&APC:P1869P&APC:P1901P&APC:P1919P&APC:P1932P&APC:P1935P&APC:P1942P&APC:P1960P&APC:P1970P&APC:P1978P;CSQ_CADD_PHRED=8.954 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,97:141:0.68794:65:-100:0.185:12,34,7,20,9,15,23,46,8,25,12,27:100:100 +5 112178024 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.6733C>T;CSQ_HGVSp=NP_001120982.1:p.Pro2245Ser;CSQ_HGVSg=5:g.112178024C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=0.539;CSQ_Mastermind_MMID3=APC:P2186S&APC:P2204S&APC:P2220S&APC:P2245S&APC:P2255S&APC:P2263S;CSQ_CADD_PHRED=26.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,8:137:0.05839:65:-100:0.1646:2,3,0,2,1,0,25,46,15,22,3,26:90.992:100 +5 112178024 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.6679C>T;CSQ_HGVSp=NP_001120983.2:p.Pro2227Ser;CSQ_HGVSg=5:g.112178024C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=0.539;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,8:137:0.05839:65:-100:0.1646:2,3,0,2,1,0,25,46,15,22,3,26:90.992:100 +5 112179308 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.8017A>G;CSQ_HGVSp=NP_001120982.1:p.Arg2673Gly;CSQ_HGVSg=5:g.112179308A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=216183;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(5)&Likely_benign(1);CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Gastric_cancer&Colorectal_cancer&Hereditary_cancer-predisposing_syndrome&Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach&Familial_adenomatous_polyposis_1&Desmoid_disease&_hereditary¬_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=246036;CSQ_gnomADe_AF=1.21933e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=0.414;CSQ_Mastermind_MMID3=APC:R2390G&APC:R2513G&APC:R2547G&APC:R2572G&APC:R2582G&APC:R2614G&APC:R2632G&APC:R2645G&APC:R2648G&APC:R2655G&APC:R2673G&APC:R2683G&APC:R2691G;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-100:0.1739:1,6,1,1,0,0,21,46,10,18,13,25:100:100 +5 112179308 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.7963A>G;CSQ_HGVSp=NP_001120983.2:p.Arg2655Gly;CSQ_HGVSg=5:g.112179308A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=216183;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(5)&Likely_benign(1);CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Gastric_cancer&Colorectal_cancer&Hereditary_cancer-predisposing_syndrome&Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach&Familial_adenomatous_polyposis_1&Desmoid_disease&_hereditary¬_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=246036;CSQ_gnomADe_AF=1.21933e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=0.414;CSQ_Mastermind_MMID3=APC:R2390G&APC:R2513G&APC:R2547G&APC:R2572G&APC:R2582G&APC:R2614G&APC:R2632G&APC:R2645G&APC:R2648G&APC:R2655G&APC:R2673G&APC:R2683G&APC:R2691G;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-100:0.1739:1,6,1,1,0,0,21,46,10,18,13,25:100:100 +5 112179344 . A G 100 PASS DP=144;CSQ_Allele=G;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.8053A>G;CSQ_HGVSp=NP_001120982.1:p.Ser2685Gly;CSQ_HGVSg=5:g.112179344A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1011701;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57394907&COSV57394907&COSV57394907;CSQ_COSMICncMuts=COSV57394907&COSV57394907&COSV57394907&COSV57394907;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.186;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,19:144:0.13194:65:-100:0.1479:5,4,1,3,0,6,21,50,16,23,10,24:100:100 +5 112179344 . A G 100 PASS DP=144;CSQ_Allele=G;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.7999A>G;CSQ_HGVSp=NP_001120983.2:p.Ser2667Gly;CSQ_HGVSg=5:g.112179344A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1011701;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57394907&COSV57394907&COSV57394907;CSQ_COSMICncMuts=COSV57394907&COSV57394907&COSV57394907&COSV57394907;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.186;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.18 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,19:144:0.13194:65:-100:0.1479:5,4,1,3,0,6,21,50,16,23,10,24:100:100 +5 112179431 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001127510.3;CSQ_HGVSc=NM_001127510.3:c.8140C>T;CSQ_HGVSp=NP_001120982.1:p.Arg2714Cys;CSQ_HGVSg=5:g.112179431C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=231255;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246080;CSQ_gnomADe_AF=4.06372e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV57331764&COSV57331764&COSV57331764;CSQ_COSMICncMuts=COSV57331764&COSV57331764&COSV57331764&COSV57331764;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=0.358;CSQ_Mastermind_MMID3=APC:R2696C&APC:R2714C&APC:R2732C;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,8:151:0.05298:65:-100:0.1371:1,2,0,2,0,3,21,53,15,19,12,31:81.861:100 +5 112179431 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=APC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001127511.3;CSQ_HGVSc=NM_001127511.3:c.8086C>T;CSQ_HGVSp=NP_001120983.2:p.Arg2696Cys;CSQ_HGVSg=5:g.112179431C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=231255;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Familial_adenomatous_polyposis_1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246080;CSQ_gnomADe_AF=4.06372e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV57331764&COSV57331764&COSV57331764;CSQ_COSMICncMuts=COSV57331764&COSV57331764&COSV57331764&COSV57331764;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=0.358;CSQ_Mastermind_MMID3=APC:R2696C&APC:R2714C&APC:R2732C;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,8:151:0.05298:65:-100:0.1371:1,2,0,2,0,3,21,53,15,19,12,31:81.861:100 +5 121758602 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=SNCAIP;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_001242935.3;CSQ_HGVSc=NM_001242935.3:c.85-9062T>C;CSQ_HGVSp=.;CSQ_HGVSg=5:g.121758602T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=16;CSQ_gnomADe_AN=245912;CSQ_gnomADe_AF=6.50639e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,11:114:0.09649:65:-100:0.2028:0,2,1,4,0,4,20,40,10,23,6,15:100:100 +5 121758602 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=SNCAIP;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_005460.4;CSQ_HGVSc=NM_005460.4:c.170T>C;CSQ_HGVSp=NP_005451.2:p.Ile57Thr;CSQ_HGVSg=5:g.121758602T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=16;CSQ_gnomADe_AN=245912;CSQ_gnomADe_AF=6.50639e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=0.176;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,11:114:0.09649:65:-100:0.2028:0,2,1,4,0,4,20,40,10,23,6,15:100:100 +5 121786959 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=SNCAIP;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_001242935.3;CSQ_HGVSc=NM_001242935.3:c.1319G>A;CSQ_HGVSp=NP_001229864.1:p.Arg440His;CSQ_HGVSg=5:g.121786959G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=350502;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Parkinson_Disease&_Dominant/Recessive¬_provided;CSQ_gnomADg_AC=316;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0102041;CSQ_gnomADe_AC=2243;CSQ_gnomADe_AN=246122;CSQ_gnomADe_AF=0.00911337;CSQ_gnomADe_Hom=19;CSQ_COSMICcMuts=COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.278;CSQ_Mastermind_MMID3=SNCAIP:R402H&SNCAIP:R438H&SNCAIP:R440H&SNCAIP:R500H&SNCAIP:R746H&SNCAIP:R806H&SNCAIP:R853H;CSQ_CADD_PHRED=29.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,17:152:0.11184:65:-100:0.1648:1,7,1,3,2,3,23,49,11,24,13,32:100:100 +5 121786959 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=SNCAIP;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_005460.4;CSQ_HGVSc=NM_005460.4:c.2417G>A;CSQ_HGVSp=NP_005451.2:p.Arg806His;CSQ_HGVSg=5:g.121786959G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=350502;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Parkinson_Disease&_Dominant/Recessive¬_provided;CSQ_gnomADg_AC=316;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0102041;CSQ_gnomADe_AC=2243;CSQ_gnomADe_AN=246122;CSQ_gnomADe_AF=0.00911337;CSQ_gnomADe_Hom=19;CSQ_COSMICcMuts=COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994&COSV99747994;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.278;CSQ_Mastermind_MMID3=SNCAIP:R402H&SNCAIP:R438H&SNCAIP:R440H&SNCAIP:R500H&SNCAIP:R746H&SNCAIP:R806H&SNCAIP:R853H;CSQ_CADD_PHRED=29.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,17:152:0.11184:65:-100:0.1648:1,7,1,3,2,3,23,49,11,24,13,32:100:100 +5 131931501 . A C 100 PASS DP=163;CSQ_Allele=C;CSQ_SYMBOL=RAD50;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/25;CSQ_INTRON=.;CSQ_Feature=NM_005732.4;CSQ_HGVSc=NM_005732.4:c.2206A>C;CSQ_HGVSp=NP_005723.2:p.Arg736%3D;CSQ_HGVSg=5:g.131931501A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54755156&COSV54755156;CSQ_COSMICncMuts=COSV54755156&COSV54755156;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAD50:R736R;CSQ_CADD_PHRED=20.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,11:163:0.06748:65:-100:0.1189:1,6,1,0,2,1,27,61,18,17,16,24:100:100 +5 138266546 . G A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=CTNNA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/12;CSQ_INTRON=.;CSQ_Feature=NM_001290312.1;CSQ_HGVSc=NM_001290312.1:c.1110G>A;CSQ_HGVSp=NP_001277241.1:p.Ser370%3D;CSQ_HGVSg=5:g.138266546G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=820919;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=9954;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.322261;CSQ_gnomADe_AC=67703;CSQ_gnomADe_AN=246192;CSQ_gnomADe_AF=0.275001;CSQ_gnomADe_Hom=10270;CSQ_COSMICcMuts=COSV57072058&COSV57072058&COSV57072058&COSV57072058;CSQ_COSMICncMuts=COSV57072058&COSV57072058;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CTNNA1:S257S&CTNNA1:S289S&CTNNA1:S339S&CTNNA1:S370S&CTNNA1:S617S&CTNNA1:S637S&CTNNA1:S709S&CTNNA1:S740S;CSQ_CADD_PHRED=12.08 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,12:158:0.07595:65:-100:0.1271:1,4,1,1,0,5,29,51,10,27,13,28:100:100 +5 138266546 . G A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=CTNNA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/18;CSQ_INTRON=.;CSQ_Feature=NM_001903.5;CSQ_HGVSc=NM_001903.5:c.2220G>A;CSQ_HGVSp=NP_001894.2:p.Ser740%3D;CSQ_HGVSg=5:g.138266546G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=820919;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=9954;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.322261;CSQ_gnomADe_AC=67703;CSQ_gnomADe_AN=246192;CSQ_gnomADe_AF=0.275001;CSQ_gnomADe_Hom=10270;CSQ_COSMICcMuts=COSV57072058&COSV57072058&COSV57072058&COSV57072058;CSQ_COSMICncMuts=COSV57072058&COSV57072058;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CTNNA1:S257S&CTNNA1:S289S&CTNNA1:S339S&CTNNA1:S370S&CTNNA1:S617S&CTNNA1:S637S&CTNNA1:S709S&CTNNA1:S740S;CSQ_CADD_PHRED=12.08 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,12:158:0.07595:65:-100:0.1271:1,4,1,1,0,5,29,51,10,27,13,28:100:100 +5 138268356 . C CA 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=CTNNA1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=11/12;CSQ_INTRON=.;CSQ_Feature=NM_001290312.1;CSQ_HGVSc=NM_001290312.1:c.1280dup;CSQ_HGVSp=NP_001277241.1:p.Ala428GlyfsTer80;CSQ_HGVSg=5:g.138268358dup;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57082377&COSV57082377&COSV57082377&COSV57082377;CSQ_COSMICncMuts=COSV57082377&COSV57082377;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CTNNA1:A798fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,9:158:0.05696:65:-100:0:3,3,1,0,2,0,32,57,8,24,14,24:100:100 +5 138268356 . C CA 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=CTNNA1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=17/18;CSQ_INTRON=.;CSQ_Feature=NM_001903.5;CSQ_HGVSc=NM_001903.5:c.2390dup;CSQ_HGVSp=NP_001894.2:p.Ala798GlyfsTer80;CSQ_HGVSg=5:g.138268358dup;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57082377&COSV57082377&COSV57082377&COSV57082377;CSQ_COSMICncMuts=COSV57082377&COSV57082377;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CTNNA1:A798fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,9:158:0.05696:65:-100:0:3,3,1,0,2,0,32,57,8,24,14,24:100:100 +5 138269657 . A C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=CTNNA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001290312.1;CSQ_HGVSc=NM_001290312.1:c.1490A>C;CSQ_HGVSp=NP_001277241.1:p.Lys497Thr;CSQ_HGVSg=5:g.138269657A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57070103&COSV57070103&COSV57070103&COSV57070103;CSQ_COSMICncMuts=COSV57070103&COSV57070103;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.547;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,18:181:0.09945:65:-100:0.104:1,6,1,3,2,5,34,43,17,21,22,44:100:100 +5 138269657 . A C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=CTNNA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/18;CSQ_INTRON=.;CSQ_Feature=NM_001903.5;CSQ_HGVSc=NM_001903.5:c.2600A>C;CSQ_HGVSp=NP_001894.2:p.Lys867Thr;CSQ_HGVSg=5:g.138269657A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57070103&COSV57070103&COSV57070103&COSV57070103;CSQ_COSMICncMuts=COSV57070103&COSV57070103;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.547;CSQ_Mastermind_MMID3=CTNNA1:K867T;CSQ_CADD_PHRED=28.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,18:181:0.09945:65:-100:0.104:1,6,1,3,2,5,34,43,17,21,22,44:100:100 +5 141999402 . A G 100 PASS DP=90;CSQ_Allele=G;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/3;CSQ_Feature=NM_001257206.2;CSQ_HGVSc=NM_001257206.2:c.-34-5676T>C;CSQ_HGVSp=.;CSQ_HGVSg=5:g.141999402A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.089 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,8:90:0.08889:65:-100:0.2683:2,1,3,1,1,0,18,21,14,12,17,8:99.893:100 +5 141999402 . A G 100 PASS DP=90;CSQ_Allele=G;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001257207.2;CSQ_HGVSc=NM_001257207.2:c.-34-5676T>C;CSQ_HGVSp=.;CSQ_HGVSg=5:g.141999402A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.089 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,8:90:0.08889:65:-100:0.2683:2,1,3,1,1,0,18,21,14,12,17,8:99.893:100 +5 141999402 . A G 100 PASS DP=90;CSQ_Allele=G;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_033137.4;CSQ_HGVSc=NM_033137.4:c.-34-5676T>C;CSQ_HGVSp=.;CSQ_HGVSg=5:g.141999402A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.089 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,8:90:0.08889:65:-100:0.2683:2,1,3,1,1,0,18,21,14,12,17,8:99.893:100 +5 142010380 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/3;CSQ_Feature=NM_001257206.2;CSQ_HGVSc=NM_001257206.2:c.-34-16654C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142010380G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23696;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.766216;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF1:5UTR&FGF1:5UTRint&FGF1:5UTRinta&FGF1:5UTRintd;CSQ_CADD_PHRED=0.253 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,129:147:0.87755:65:-100:0.1302:14,50,8,25,14,18,16,54,10,30,14,23:100:100 +5 142010380 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001257207.2;CSQ_HGVSc=NM_001257207.2:c.-34-16654C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142010380G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23696;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.766216;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF1:5UTR&FGF1:5UTRint&FGF1:5UTRinta&FGF1:5UTRintd;CSQ_CADD_PHRED=0.253 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,129:147:0.87755:65:-100:0.1302:14,50,8,25,14,18,16,54,10,30,14,23:100:100 +5 142010380 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_033137.4;CSQ_HGVSc=NM_033137.4:c.-34-16654C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142010380G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23696;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.766216;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF1:5UTR&FGF1:5UTRint&FGF1:5UTRinta&FGF1:5UTRintd;CSQ_CADD_PHRED=0.253 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,129:147:0.87755:65:-100:0.1302:14,50,8,25,14,18,16,54,10,30,14,23:100:100 +5 142017860 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/3;CSQ_Feature=NM_001257206.2;CSQ_HGVSc=NM_001257206.2:c.-34-24134G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142017860C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8649;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.279957;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF1:5UTR&FGF1:5UTRint&FGF1:5UTRinta&FGF1:5UTRintd;CSQ_CADD_PHRED=1.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,51:136:0.375:65:-100:0.1282:7,17,4,9,5,9,25,41,11,28,10,21:100:100 +5 142017860 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001257207.2;CSQ_HGVSc=NM_001257207.2:c.-34-24134G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142017860C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8649;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.279957;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF1:5UTR&FGF1:5UTRint&FGF1:5UTRinta&FGF1:5UTRintd;CSQ_CADD_PHRED=1.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,51:136:0.375:65:-100:0.1282:7,17,4,9,5,9,25,41,11,28,10,21:100:100 +5 142017860 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_033137.4;CSQ_HGVSc=NM_033137.4:c.-34-24134G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142017860C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8649;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.279957;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF1:5UTR&FGF1:5UTRint&FGF1:5UTRinta&FGF1:5UTRintd;CSQ_CADD_PHRED=1.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,51:136:0.375:65:-100:0.1282:7,17,4,9,5,9,25,41,11,28,10,21:100:100 +5 142051390 . C A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/3;CSQ_Feature=NM_001257206.2;CSQ_HGVSc=NM_001257206.2:c.-35+25797G>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142051390C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,9:152:0.05921:65:-100:0.1508:1,1,1,4,0,2,13,65,13,27,9,25:100:100 +5 142051390 . C A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001257207.2;CSQ_HGVSc=NM_001257207.2:c.-35+14132G>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142051390C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,9:152:0.05921:65:-100:0.1508:1,1,1,4,0,2,13,65,13,27,9,25:100:100 +5 142051390 . C A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=FGF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_033137.4;CSQ_HGVSc=NM_033137.4:c.-35+26088G>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.142051390C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,9:152:0.05921:65:-100:0.1508:1,1,1,4,0,2,13,65,13,27,9,25:100:100 +5 149433939 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/21;CSQ_INTRON=.;CSQ_Feature=NM_001288705.3;CSQ_HGVSc=NM_001288705.3:c.2709C>T;CSQ_HGVSp=NP_001275634.1:p.Phe903%3D;CSQ_HGVSg=5:g.149433939G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352130;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids¬_specified¬_provided;CSQ_gnomADg_AC=290;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.00937965;CSQ_gnomADe_AC=1994;CSQ_gnomADe_AN=244882;CSQ_gnomADe_AF=0.0081427;CSQ_gnomADe_Hom=15;CSQ_COSMICcMuts=COSV53847310;CSQ_COSMICncMuts=COSV53847310&COSV53847310&COSV53847310&COSV53847310;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF1R:F755F&CSF1R:F903F;CSQ_CADD_PHRED=11.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,11:153:0.0719:65:-100:0.1:1,4,0,3,0,3,24,52,7,35,5,30:100:100 +5 149433939 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/22;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=NM_005211.4:c.2709C>T;CSQ_HGVSp=NP_005202.2:p.Phe903%3D;CSQ_HGVSg=5:g.149433939G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352130;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids¬_specified¬_provided;CSQ_gnomADg_AC=290;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.00937965;CSQ_gnomADe_AC=1994;CSQ_gnomADe_AN=244882;CSQ_gnomADe_AF=0.0081427;CSQ_gnomADe_Hom=15;CSQ_COSMICcMuts=COSV53847310;CSQ_COSMICncMuts=COSV53847310&COSV53847310&COSV53847310&COSV53847310;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF1R:F755F&CSF1R:F903F;CSQ_CADD_PHRED=11.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,11:153:0.0719:65:-100:0.1:1,4,0,3,0,3,24,52,7,35,5,30:100:100 +5 149440522 . A C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/21;CSQ_INTRON=.;CSQ_Feature=NM_001288705.3;CSQ_HGVSc=NM_001288705.3:c.1872T>G;CSQ_HGVSp=NP_001275634.1:p.Ala624%3D;CSQ_HGVSg=5:g.149440522A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169769;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=27;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.000872713;CSQ_gnomADe_AC=53;CSQ_gnomADe_AN=224370;CSQ_gnomADe_AF=0.000236217;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.795 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,14:151:0.09272:65:-100:0.1012:3,2,2,3,3,1,22,46,13,34,20,16:100:100 +5 149440522 . A C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/22;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=NM_005211.4:c.1872T>G;CSQ_HGVSp=NP_005202.2:p.Ala624%3D;CSQ_HGVSg=5:g.149440522A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169769;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=27;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.000872713;CSQ_gnomADe_AC=53;CSQ_gnomADe_AN=224370;CSQ_gnomADe_AF=0.000236217;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.795 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,14:151:0.09272:65:-100:0.1012:3,2,2,3,3,1,22,46,13,34,20,16:100:100 +5 149450132 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=CSF1R;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_001288705.3;CSQ_HGVSc=NM_001288705.3:c.1085A>G;CSQ_HGVSp=NP_001275634.1:p.His362Arg;CSQ_HGVSg=5:g.149450132T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352157;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids¬_provided;CSQ_gnomADg_AC=2810;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0908268;CSQ_gnomADe_AC=11670;CSQ_gnomADe_AN=119668;CSQ_gnomADe_AF=0.0975198;CSQ_gnomADe_Hom=1051;CSQ_COSMICcMuts=COSV53840176&COSV53840176;CSQ_COSMICncMuts=COSV53840176&COSV53840176;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.084;CSQ_Mastermind_MMID3=CSF1R:H214R&CSF1R:H362R&CSF1R:R213sra&CSF1R:R361sra;CSQ_CADD_PHRED=20.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,10:118:0.08475:65:-100:0.2081:0,6,1,1,1,1,16,36,16,15,18,17:100:100 +5 149450132 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=CSF1R;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/22;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=NM_005211.4:c.1085A>G;CSQ_HGVSp=NP_005202.2:p.His362Arg;CSQ_HGVSg=5:g.149450132T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352157;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids¬_provided;CSQ_gnomADg_AC=2810;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0908268;CSQ_gnomADe_AC=11670;CSQ_gnomADe_AN=119668;CSQ_gnomADe_AF=0.0975198;CSQ_gnomADe_Hom=1051;CSQ_COSMICcMuts=COSV53840176&COSV53840176;CSQ_COSMICncMuts=COSV53840176&COSV53840176;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.084;CSQ_Mastermind_MMID3=CSF1R:H214R&CSF1R:H362R&CSF1R:R213sra&CSF1R:R361sra;CSQ_CADD_PHRED=20.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,10:118:0.08475:65:-100:0.2081:0,6,1,1,1,1,16,36,16,15,18,17:100:100 +5 149456995 . C A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/21;CSQ_INTRON=.;CSQ_Feature=NM_001288705.3;CSQ_HGVSc=NM_001288705.3:c.733G>T;CSQ_HGVSp=NP_001275634.1:p.Ala245Ser;CSQ_HGVSg=5:g.149456995C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352163;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids¬_provided;CSQ_gnomADg_AC=825;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0266421;CSQ_gnomADe_AC=1743;CSQ_gnomADe_AN=245552;CSQ_gnomADe_AF=0.00709829;CSQ_gnomADe_Hom=63;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.09;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.024;CSQ_Mastermind_MMID3=CSF1R:A245S&CSF1R:A97S;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.1711:1,6,0,3,1,4,20,41,12,18,8,27:100:100 +5 149456995 . C A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/22;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=NM_005211.4:c.733G>T;CSQ_HGVSp=NP_005202.2:p.Ala245Ser;CSQ_HGVSg=5:g.149456995C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352163;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids¬_provided;CSQ_gnomADg_AC=825;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0266421;CSQ_gnomADe_AC=1743;CSQ_gnomADe_AN=245552;CSQ_gnomADe_AF=0.00709829;CSQ_gnomADe_Hom=63;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.09;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.024;CSQ_Mastermind_MMID3=CSF1R:A245S&CSF1R:A97S;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.1711:1,6,0,3,1,4,20,41,12,18,8,27:100:100 +5 149457678 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/21;CSQ_INTRON=.;CSQ_Feature=NM_001288705.3;CSQ_HGVSc=NM_001288705.3:c.726C>T;CSQ_HGVSp=NP_001275634.1:p.Thr242%3D;CSQ_HGVSg=5:g.149457678G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352165;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids&Brain_abnormalities&_neurodegeneration&_and_dysosteosclerosis¬_provided;CSQ_gnomADg_AC=15405;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.499773;CSQ_gnomADe_AC=126334;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.513232;CSQ_gnomADe_Hom=34406;CSQ_COSMICcMuts=COSV53827656&COSV53827656;CSQ_COSMICncMuts=COSV53827656;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF1R:T242T&CSF1R:T94T;CSQ_CADD_PHRED=8.241 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,67:146:0.4589:65:-100:0.1657:12,22,4,7,8,14,27,50,14,14,13,28:100:100 +5 149457678 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/22;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=NM_005211.4:c.726C>T;CSQ_HGVSp=NP_005202.2:p.Thr242%3D;CSQ_HGVSg=5:g.149457678G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352165;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids&Brain_abnormalities&_neurodegeneration&_and_dysosteosclerosis¬_provided;CSQ_gnomADg_AC=15405;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.499773;CSQ_gnomADe_AC=126334;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.513232;CSQ_gnomADe_Hom=34406;CSQ_COSMICcMuts=COSV53827656&COSV53827656;CSQ_COSMICncMuts=COSV53827656;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF1R:T242T&CSF1R:T94T;CSQ_CADD_PHRED=8.241 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,67:146:0.4589:65:-100:0.1657:12,22,4,7,8,14,27,50,14,14,13,28:100:100 +5 149460343 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/21;CSQ_INTRON=.;CSQ_Feature=NM_001288705.3;CSQ_HGVSc=NM_001288705.3:c.294C>T;CSQ_HGVSp=NP_001275634.1:p.His98%3D;CSQ_HGVSg=5:g.149460343G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352171;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids¬_specified¬_provided;CSQ_gnomADg_AC=979;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0316542;CSQ_gnomADe_AC=14336;CSQ_gnomADe_AN=245276;CSQ_gnomADe_AF=0.0584484;CSQ_gnomADe_Hom=1553;CSQ_COSMICcMuts=COSV53829597&COSV53829597;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF1R:5UTR&CSF1R:H98H;CSQ_CADD_PHRED=8.330 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,6:153:0.03922:65:-97.4473:0.1947:0,3,0,3,0,0,21,60,16,26,8,22:71.894:100 +5 149460343 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/22;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=NM_005211.4:c.294C>T;CSQ_HGVSp=NP_005202.2:p.His98%3D;CSQ_HGVSg=5:g.149460343G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352171;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids¬_specified¬_provided;CSQ_gnomADg_AC=979;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0316542;CSQ_gnomADe_AC=14336;CSQ_gnomADe_AN=245276;CSQ_gnomADe_AF=0.0584484;CSQ_gnomADe_Hom=1553;CSQ_COSMICcMuts=COSV53829597&COSV53829597;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF1R:5UTR&CSF1R:H98H;CSQ_CADD_PHRED=8.330 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,6:153:0.03922:65:-97.4473:0.1947:0,3,0,3,0,0,21,60,16,26,8,22:71.894:100 +5 149460553 . A G 100 PASS DP=203;CSQ_Allele=G;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/21;CSQ_INTRON=.;CSQ_Feature=NM_001288705.3;CSQ_HGVSc=NM_001288705.3:c.84T>C;CSQ_HGVSp=NP_001275634.1:p.Pro28%3D;CSQ_HGVSg=5:g.149460553A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352179;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids&Brain_abnormalities&_neurodegeneration&_and_dysosteosclerosis¬_provided;CSQ_gnomADg_AC=14846;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.481357;CSQ_gnomADe_AC=118410;CSQ_gnomADe_AN=245132;CSQ_gnomADe_AF=0.483046;CSQ_gnomADe_Hom=31481;CSQ_COSMICcMuts=COSV53831811&COSV53831811;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF1R:5UTR&CSF1R:P28P;CSQ_CADD_PHRED=4.832 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,55:203:0.27094:65:-100:0.125:11,17,8,6,4,9,34,72,21,28,19,29:100:100 +5 149460553 . A G 100 PASS DP=203;CSQ_Allele=G;CSQ_SYMBOL=CSF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/22;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=NM_005211.4:c.84T>C;CSQ_HGVSp=NP_005202.2:p.Pro28%3D;CSQ_HGVSg=5:g.149460553A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=352179;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_leukoencephalopathy_with_spheroids&Brain_abnormalities&_neurodegeneration&_and_dysosteosclerosis¬_provided;CSQ_gnomADg_AC=14846;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.481357;CSQ_gnomADe_AC=118410;CSQ_gnomADe_AN=245132;CSQ_gnomADe_AF=0.483046;CSQ_gnomADe_Hom=31481;CSQ_COSMICcMuts=COSV53831811&COSV53831811;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CSF1R:5UTR&CSF1R:P28P;CSQ_CADD_PHRED=4.832 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,55:203:0.27094:65:-100:0.125:11,17,8,6,4,9,34,72,21,28,19,29:100:100 +5 149493472 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.*1854G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149493472C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30893;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.997449;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:3UTR;CSQ_CADD_PHRED=14.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,153:153:1:65:-100:0.1:21,64,13,22,13,20,21,64,13,22,13,20:100:100 +5 149493472 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=CSF1R;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149493472C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30893;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.997449;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,153:153:1:65:-100:0.1:21,64,13,22,13,20,21,64,13,22,13,20:100:100 +5 149494521 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.*805C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149494521G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2890;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.0935094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:3UTR;CSQ_CADD_PHRED=2.034 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,7:156:0.04487:65:-100:0.1568:2,2,1,1,1,0,36,50,14,23,14,19:64.228:100 +5 149494521 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149494521G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2890;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.0935094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.034 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,7:156:0.04487:65:-100:0.1568:2,2,1,1,1,0,36,50,14,23,14,19:64.228:100 +5 149495395 . T C 100 PASS DP=164;CSQ_Allele=C;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.3252A>G;CSQ_HGVSp=NP_002600.1:p.Pro1084%3D;CSQ_HGVSg=5:g.149495395T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258779;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acroosteolysis-keloid-like_lesions-premature_aging_syndrome&Basal_ganglia_calcification&_idiopathic&_4&Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome&Infantile_myofibromatosis¬_specified¬_provided;CSQ_gnomADg_AC=10643;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.344478;CSQ_gnomADe_AC=81825;CSQ_gnomADe_AN=240766;CSQ_gnomADe_AF=0.339853;CSQ_gnomADe_Hom=15264;CSQ_COSMICcMuts=COSV53827692;CSQ_COSMICncMuts=COSV53827692&COSV53827692&COSV53827692&COSV53827692;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:P1020P&PDGFRB:P1084P&PDGFRB:P923P;CSQ_CADD_PHRED=0.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,75:164:0.45732:65:-100:0.1277:11,33,7,12,1,11,20,59,16,33,11,25:100:100 +5 149495395 . T C 100 PASS DP=164;CSQ_Allele=C;CSQ_SYMBOL=CSF1R;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149495395T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258779;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acroosteolysis-keloid-like_lesions-premature_aging_syndrome&Basal_ganglia_calcification&_idiopathic&_4&Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome&Infantile_myofibromatosis¬_specified¬_provided;CSQ_gnomADg_AC=10643;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.344478;CSQ_gnomADe_AC=81825;CSQ_gnomADe_AN=240766;CSQ_gnomADe_AF=0.339853;CSQ_gnomADe_Hom=15264;CSQ_COSMICcMuts=COSV53827692;CSQ_COSMICncMuts=COSV53827692&COSV53827692&COSV53827692&COSV53827692;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,75:164:0.45732:65:-100:0.1277:11,33,7,12,1,11,20,59,16,33,11,25:100:100 +5 149497228 . G A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/23;CSQ_INTRON=.;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.3090C>T;CSQ_HGVSp=NP_002600.1:p.Pro1030%3D;CSQ_HGVSg=5:g.149497228G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258777;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acroosteolysis-keloid-like_lesions-premature_aging_syndrome&Basal_ganglia_calcification&_idiopathic&_4&Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome&Infantile_myofibromatosis¬_specified¬_provided;CSQ_gnomADg_AC=2538;CSQ_gnomADg_AN=30788;CSQ_gnomADg_AF=0.0824347;CSQ_gnomADe_AC=18819;CSQ_gnomADe_AN=246046;CSQ_gnomADe_AF=0.0764857;CSQ_gnomADe_Hom=869;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:P1030P&PDGFRB:P869P&PDGFRB:P966P;CSQ_CADD_PHRED=6.979 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,30:164:0.18293:65:-100:0.2077:0,14,3,8,1,4,27,49,21,33,8,26:100:100 +5 149497228 . G A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=CSF1R;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005211.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149497228G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258777;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acroosteolysis-keloid-like_lesions-premature_aging_syndrome&Basal_ganglia_calcification&_idiopathic&_4&Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome&Infantile_myofibromatosis¬_specified¬_provided;CSQ_gnomADg_AC=2538;CSQ_gnomADg_AN=30788;CSQ_gnomADg_AF=0.0824347;CSQ_gnomADe_AC=18819;CSQ_gnomADe_AN=246046;CSQ_gnomADe_AF=0.0764857;CSQ_gnomADe_Hom=869;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.979 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,30:164:0.18293:65:-100:0.2077:0,14,3,8,1,4,27,49,21,33,8,26:100:100 +5 149499672 . T C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/23;CSQ_INTRON=.;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.2601A>G;CSQ_HGVSp=NP_002600.1:p.Leu867%3D;CSQ_HGVSg=5:g.149499672T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258776;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acroosteolysis-keloid-like_lesions-premature_aging_syndrome&Basal_ganglia_calcification&_idiopathic&_4&Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome&Infantile_myofibromatosis¬_specified¬_provided;CSQ_gnomADg_AC=7858;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.254964;CSQ_gnomADe_AC=70375;CSQ_gnomADe_AN=246014;CSQ_gnomADe_AF=0.286061;CSQ_gnomADe_Hom=10755;CSQ_COSMICcMuts=COSV55800021;CSQ_COSMICncMuts=COSV55800021&COSV55800021;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:L706L&PDGFRB:L803L&PDGFRB:L867L;CSQ_CADD_PHRED=9.409 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,40:139:0.28777:65:-100:0.1313:4,15,6,6,2,7,19,46,13,22,12,27:100:100 +5 149504348 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/23;CSQ_INTRON=.;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.1854G>A;CSQ_HGVSp=NP_002600.1:p.Thr618%3D;CSQ_HGVSg=5:g.149504348C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=473404;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acroosteolysis-keloid-like_lesions-premature_aging_syndrome&Basal_ganglia_calcification&_idiopathic&_4&Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome&Infantile_myofibromatosis¬_specified¬_provided;CSQ_gnomADg_AC=690;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.0223735;CSQ_gnomADe_AC=7698;CSQ_gnomADe_AN=243836;CSQ_gnomADe_AF=0.0315704;CSQ_gnomADe_Hom=237;CSQ_COSMICcMuts=COSV55800032;CSQ_COSMICncMuts=COSV55800032&COSV55800032;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:T457T&PDGFRB:T554T&PDGFRB:T618T;CSQ_CADD_PHRED=8.200 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,14:164:0.08537:65:-100:0.1759:1,5,1,3,1,3,20,65,15,29,13,22:100:100 +5 149509446 . C T 100 PASS DP=165;CSQ_Allele=T;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.1453G>A;CSQ_HGVSp=NP_002600.1:p.Glu485Lys;CSQ_HGVSg=5:g.149509446C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=473402;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acroosteolysis-keloid-like_lesions-premature_aging_syndrome&Basal_ganglia_calcification&_idiopathic&_4&Skeletal_overgrowth-craniofacial_dysmorphism-hyperelastic_skin-white_matter_lesions_syndrome&Infantile_myofibromatosis¬_specified¬_provided;CSQ_gnomADg_AC=542;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0175053;CSQ_gnomADe_AC=4814;CSQ_gnomADe_AN=246250;CSQ_gnomADe_AF=0.0195492;CSQ_gnomADe_Hom=71;CSQ_COSMICcMuts=COSV55801773;CSQ_COSMICncMuts=COSV55801773&COSV55801773&COSV55801773&COSV55801773;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.105;CSQ_Mastermind_MMID3=PDGFRB:E324K&PDGFRB:E421K&PDGFRB:E485K;CSQ_CADD_PHRED=22.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,6:165:0.03636:65:-45.7059:0.1081:1,2,0,2,0,1,20,58,14,32,14,27:62.159:100 +5 149518824 . T G 100 PASS DP=181;CSQ_Allele=G;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/22;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.-6-2208A>C;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149518824T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14689;CSQ_gnomADg_AN=30792;CSQ_gnomADg_AF=0.477039;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:5UTR&PDGFRB:5UTRint&PDGFRB:5UTRinta;CSQ_CADD_PHRED=6.957 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,84:181:0.46409:65:-100:0.1171:11,28,7,20,7,11,30,61,19,32,12,27:100:100 +5 149521791 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/22;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.-6-5175T>C;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149521791A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6291;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.203816;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:5UTR&PDGFRB:5UTRint&PDGFRB:5UTRinta;CSQ_CADD_PHRED=2.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,29:148:0.19595:65:-100:0.1294:2,11,3,5,1,7,20,42,12,34,10,30:100:100 +5 149523777 . C T 100 PASS DP=167;CSQ_Allele=T;CSQ_SYMBOL=PDGFRB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/22;CSQ_Feature=NM_002609.4;CSQ_HGVSc=NM_002609.4:c.-6-7161G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149523777C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4607;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.14921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PDGFRB:5UTR&PDGFRB:5UTRint&PDGFRB:5UTRinta;CSQ_CADD_PHRED=6.393 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,49:167:0.29341:65:-100:0.1211:10,18,4,6,2,9,39,49,15,25,9,30:100:100 +5 149781627 . T C 100 PASS DP=211;CSQ_Allele=C;CSQ_SYMBOL=CD74;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001025159.2;CSQ_HGVSc=NM_001025159.2:c.*176A>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149781627T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2587;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.0837596;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD74:3UTR;CSQ_CADD_PHRED=4.904 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:193,18:211:0.08531:65:-100:0.1388:4,5,1,5,1,2,31,78,23,31,15,33:100:100 +5 149783694 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=CD74;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001025159.2;CSQ_HGVSc=NM_001025159.2:c.625+549C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149783694G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2000;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0646371;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.553 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,9:177:0.05085:65:-100:0.115:2,4,0,1,0,2,30,71,16,25,10,25:100:100 +5 149783876 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=CD74;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001025159.2;CSQ_HGVSc=NM_001025159.2:c.625+367A>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149783876T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=275;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.00888702;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,15:162:0.09259:65:-100:0.1474:3,5,1,2,3,1,29,49,13,32,12,27:100:100 +5 149783879 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=CD74;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001025159.2;CSQ_HGVSc=NM_001025159.2:c.625+364C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149783879G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1988;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0642451;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.409 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,7:157:0.04459:65:-100:0.1693:2,4,0,0,0,1,27,49,12,31,11,27:76.508:100 +5 149784197 . C T 100 PASS DP=182;CSQ_Allele=T;CSQ_SYMBOL=CD74;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001025159.2;CSQ_HGVSc=NM_001025159.2:c.625+46G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149784197C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=609;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.0197407;CSQ_gnomADe_AC=656;CSQ_gnomADe_AN=149408;CSQ_gnomADe_AF=0.00439066;CSQ_gnomADe_Hom=28;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.919 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,28:182:0.15385:65:-100:0.2052:5,15,1,2,0,5,25,78,14,26,10,29:100:100 +5 149792337 . C T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=CD74;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001025159.2;CSQ_HGVSc=NM_001025159.2:c.-25G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.149792337C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3029;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0978422;CSQ_gnomADe_AC=23215;CSQ_gnomADe_AN=245556;CSQ_gnomADe_AF=0.0945406;CSQ_gnomADe_Hom=1406;CSQ_COSMICcMuts=COSV50532288;CSQ_COSMICncMuts=COSV50532288&COSV50532288&COSV50532288&COSV50532288&COSV50532288&COSV50532288&COSV50532288&COSV50532288&COSV50532288&COSV50532288;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD74:5UTR;CSQ_CADD_PHRED=13.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,30:183:0.16393:65:-100:0.1644:9,10,0,4,2,5,36,61,18,24,15,29:100:100 +5 161113004 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=GABRA6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_000811.3;CSQ_HGVSc=NM_000811.3:c.9G>A;CSQ_HGVSp=NP_000802.2:p.Ser3%3D;CSQ_HGVSg=5:g.161113004G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169909;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Childhood_absence_epilepsy;CSQ_gnomADg_AC=5742;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.185693;CSQ_gnomADe_AC=47082;CSQ_gnomADe_AN=246186;CSQ_gnomADe_AF=0.191246;CSQ_gnomADe_Hom=5357;CSQ_COSMICcMuts=COSV50878128&COSV50878128;CSQ_COSMICncMuts=COSV50878128&COSV50878128&COSV50878128&COSV50878128&COSV50878128&COSV50878128&COSV50878128;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GABRA6:S3S;CSQ_CADD_PHRED=0.513 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,20:113:0.17699:65:-100:0.2098:5,5,5,3,2,0,21,32,15,21,11,13:100:100 +5 161119071 . G T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=GABRA6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/9;CSQ_INTRON=.;CSQ_Feature=NM_000811.3;CSQ_HGVSc=NM_000811.3:c.951G>T;CSQ_HGVSp=NP_000802.2:p.Ala317%3D;CSQ_HGVSg=5:g.161119071G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169910;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Childhood_absence_epilepsy;CSQ_gnomADg_AC=30047;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.969884;CSQ_gnomADe_AC=244407;CSQ_gnomADe_AN=246270;CSQ_gnomADe_AF=0.992435;CSQ_gnomADe_Hom=121357;CSQ_COSMICcMuts=COSV99194042&COSV99194042;CSQ_COSMICncMuts=COSV99194042&COSV99194042&COSV99194042&COSV99194042&COSV99194042&COSV99194042;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GABRA6:A317A;CSQ_CADD_PHRED=9.401 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,124:149:0.83221:65:-100:0.097:14,47,9,22,12,20,18,54,13,25,16,23:100:100 +5 161119125 . C G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=GABRA6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/9;CSQ_INTRON=.;CSQ_Feature=NM_000811.3;CSQ_HGVSc=NM_000811.3:c.1005C>G;CSQ_HGVSp=NP_000802.2:p.Ala335%3D;CSQ_HGVSg=5:g.161119125C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169911;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Childhood_absence_epilepsy;CSQ_gnomADg_AC=15028;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.486186;CSQ_gnomADe_AC=118844;CSQ_gnomADe_AN=246246;CSQ_gnomADe_AF=0.482623;CSQ_gnomADe_Hom=30078;CSQ_COSMICcMuts=COSV50877703&COSV50877703;CSQ_COSMICncMuts=COSV50877703&COSV50877703&COSV50877703&COSV50877703&COSV50877703&COSV50877703;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GABRA6:A335A;CSQ_CADD_PHRED=5.996 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,69:141:0.48936:65:-100:0.1019:12,17,9,14,5,12,22,35,21,30,12,21:100:100 +5 161128761 . C G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=GABRA6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_000811.3;CSQ_HGVSc=NM_000811.3:c.1344C>G;CSQ_HGVSp=NP_000802.2:p.Val448%3D;CSQ_HGVSg=5:g.161128761C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1169912;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Childhood_absence_epilepsy;CSQ_gnomADg_AC=29991;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.967951;CSQ_gnomADe_AC=244031;CSQ_gnomADe_AN=246076;CSQ_gnomADe_AF=0.99169;CSQ_gnomADe_Hom=121099;CSQ_COSMICcMuts=COSV99194043&COSV99194043;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GABRA6:V448V;CSQ_CADD_PHRED=1.089 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,92:101:0.91089:65:-100:0.1984:11,28,8,14,12,19,12,31,8,17,14,19:100:100 +5 176512855 . G C 100 PASS DP=171;CSQ_Allele=C;CSQ_SYMBOL=FGFR4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176512855G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=727;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0234774;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.151 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,11:171:0.06433:65:-100:0.145:1,6,0,1,1,2,26,61,16,32,11,25:100:100 +5 176512855 . G C 100 PASS DP=171;CSQ_Allele=C;CSQ_SYMBOL=FGFR4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176512855G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=727;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0234774;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.151 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,11:171:0.06433:65:-100:0.145:1,6,0,1,1,2,26,61,16,32,11,25:100:100 +5 176513247 . C G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=FGFR4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176513247C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24532;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.793248;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.970 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,136:148:0.91892:65:-100:0.1638:20,47,14,23,12,20,23,51,14,25,14,21:100:100 +5 176513247 . C G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=FGFR4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176513247C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24532;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.793248;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.970 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,136:148:0.91892:65:-100:0.1638:20,47,14,23,12,20,23,51,14,25,14,21:100:100 +5 176515591 . A AC 100 PASS DP=193;CSQ_Allele=C;CSQ_SYMBOL=FGFR4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/17;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.-53-958dup;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176515593dup;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24508;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.793653;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.482 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,180:193:0.93264:65:-100:0:36,53,14,25,15,37,39,55,18,28,15,38:100:100 +5 176515591 . A AC 100 PASS DP=193;CSQ_Allele=C;CSQ_SYMBOL=FGFR4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176515593dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24508;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.793653;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.482 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,180:193:0.93264:65:-100:0:36,53,14,25,15,37,39,55,18,28,15,38:100:100 +5 176515866 . AG A 100 PASS DP=176;CSQ_Allele=-;CSQ_SYMBOL=FGFR4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/17;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.-53-684del;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176515867del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23015;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.745353;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.17;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.269 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,130:176:0.73864:65:-100:0:23,41,5,27,11,23,30,59,9,33,15,30:100:100 +5 176515866 . AG A 100 PASS DP=176;CSQ_Allele=-;CSQ_SYMBOL=FGFR4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176515867del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23015;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.745353;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.17;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.269 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,130:176:0.73864:65:-100:0:23,41,5,27,11,23,30,59,9,33,15,30:100:100 +5 176516537 . C G 100 PASS DP=198;CSQ_Allele=G;CSQ_SYMBOL=FGFR4;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=1/17;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.-53-14C>G;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176516537C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=720;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0232528;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451223&COSV99451223&COSV99451223&COSV99451223;CSQ_COSMICncMuts=COSV99451223&COSV99451223&COSV99451223&COSV99451223&COSV99451223&COSV99451223;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:5UTR&FGFR4:5UTRint&FGFR4:5UTRinta;CSQ_CADD_PHRED=4.166 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:182,16:198:0.08081:65:-100:0.1354:3,6,1,3,1,2,28,72,21,28,18,31:100:100 +5 176516537 . C G 100 PASS DP=198;CSQ_Allele=G;CSQ_SYMBOL=FGFR4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176516537C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=720;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0232528;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451223&COSV99451223&COSV99451223&COSV99451223;CSQ_COSMICncMuts=COSV99451223&COSV99451223&COSV99451223&COSV99451223&COSV99451223&COSV99451223;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:5UTR&FGFR4:5UTRint&FGFR4:5UTRinta;CSQ_CADD_PHRED=4.166 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:182,16:198:0.08081:65:-100:0.1354:3,6,1,3,1,2,28,72,21,28,18,31:100:100 +5 176516631 . G A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=FGFR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/18;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.28G>A;CSQ_HGVSp=NP_002002.3:p.Val10Ile;CSQ_HGVSg=5:g.176516631G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1291710;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6036;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.19558;CSQ_gnomADe_AC=60028;CSQ_gnomADe_AN=244360;CSQ_gnomADe_AF=0.245654;CSQ_gnomADe_Hom=8595;CSQ_COSMICcMuts=COSV52803790&COSV52803790&COSV52803790&COSV52803790&COSV52803790;CSQ_COSMICncMuts=COSV52803790&COSV52803790;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=0.262;CSQ_Mastermind_MMID3=FGFR4:V10I;CSQ_CADD_PHRED=0.106 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,44:170:0.25882:65:-100:0.1457:6,14,3,10,2,9,19,63,15,32,11,30:100:100 +5 176516631 . G A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=FGFR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/16;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=NM_022963.3:c.28G>A;CSQ_HGVSp=NP_075252.2:p.Val10Ile;CSQ_HGVSg=5:g.176516631G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1291710;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6036;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.19558;CSQ_gnomADe_AC=60028;CSQ_gnomADe_AN=244360;CSQ_gnomADe_AF=0.245654;CSQ_gnomADe_Hom=8595;CSQ_COSMICcMuts=COSV52803790&COSV52803790&COSV52803790&COSV52803790&COSV52803790;CSQ_COSMICncMuts=COSV52803790&COSV52803790;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=0.262;CSQ_Mastermind_MMID3=FGFR4:V10I;CSQ_CADD_PHRED=0.106 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,44:170:0.25882:65:-100:0.1457:6,14,3,10,2,9,19,63,15,32,11,30:100:100 +5 176517461 . T G 100 PASS DP=187;CSQ_Allele=G;CSQ_SYMBOL=FGFR4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/18;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.162T>G;CSQ_HGVSp=NP_002002.3:p.Arg54%3D;CSQ_HGVSg=5:g.176517461T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21941;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.711769;CSQ_gnomADe_AC=182693;CSQ_gnomADe_AN=236876;CSQ_gnomADe_AF=0.77126;CSQ_gnomADe_Hom=71639;CSQ_COSMICcMuts=COSV52802425&COSV52802425&COSV52802425&COSV52802425&COSV52802425;CSQ_COSMICncMuts=COSV52802425&COSV52802425&COSV52802425;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:R54R;CSQ_CADD_PHRED=7.106 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,119:187:0.63636:65:-100:0.1302:23,41,8,17,7,23,38,60,16,23,18,32:100:100 +5 176517461 . T G 100 PASS DP=187;CSQ_Allele=G;CSQ_SYMBOL=FGFR4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/16;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=NM_022963.3:c.162T>G;CSQ_HGVSp=NP_075252.2:p.Arg54%3D;CSQ_HGVSg=5:g.176517461T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21941;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.711769;CSQ_gnomADe_AC=182693;CSQ_gnomADe_AN=236876;CSQ_gnomADe_AF=0.77126;CSQ_gnomADe_Hom=71639;CSQ_COSMICcMuts=COSV52802425&COSV52802425&COSV52802425&COSV52802425&COSV52802425;CSQ_COSMICncMuts=COSV52802425&COSV52802425&COSV52802425;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:R54R;CSQ_CADD_PHRED=7.106 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,119:187:0.63636:65:-100:0.1302:23,41,8,17,7,23,38,60,16,23,18,32:100:100 +5 176517797 . C T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=FGFR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/18;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.407C>T;CSQ_HGVSp=NP_002002.3:p.Pro136Leu;CSQ_HGVSg=5:g.176517797C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1679938;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Classic_Hodgkin_lymphoma;CSQ_gnomADg_AC=23021;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.746756;CSQ_gnomADe_AC=196915;CSQ_gnomADe_AN=245912;CSQ_gnomADe_AF=0.800754;CSQ_gnomADe_Hom=79772;CSQ_COSMICcMuts=COSV99448701&COSV99448701&COSV99448701&COSV99448701&COSV99448701;CSQ_COSMICncMuts=COSV99448701&COSV99448701&COSV99448701&COSV99448701&COSV99448701&COSV99448701&COSV99448701;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=0.180;CSQ_Mastermind_MMID3=FGFR4:P136L;CSQ_CADD_PHRED=8.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,136:180:0.75556:65:-100:0.1388:18,43,11,24,14,26,27,58,13,33,16,33:100:100 +5 176517797 . C T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=FGFR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/16;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=NM_022963.3:c.407C>T;CSQ_HGVSp=NP_075252.2:p.Pro136Leu;CSQ_HGVSg=5:g.176517797C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1679938;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Classic_Hodgkin_lymphoma;CSQ_gnomADg_AC=23021;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.746756;CSQ_gnomADe_AC=196915;CSQ_gnomADe_AN=245912;CSQ_gnomADe_AF=0.800754;CSQ_gnomADe_Hom=79772;CSQ_COSMICcMuts=COSV99448701&COSV99448701&COSV99448701&COSV99448701&COSV99448701;CSQ_COSMICncMuts=COSV99448701&COSV99448701&COSV99448701&COSV99448701&COSV99448701&COSV99448701&COSV99448701;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=0.180;CSQ_Mastermind_MMID3=FGFR4:P136L;CSQ_CADD_PHRED=8.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,136:180:0.75556:65:-100:0.1388:18,43,11,24,14,26,27,58,13,33,16,33:100:100 +5 176518784 . C T 100 PASS DP=201;CSQ_Allele=T;CSQ_SYMBOL=FGFR4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/18;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.702C>T;CSQ_HGVSp=NP_002002.3:p.Arg234%3D;CSQ_HGVSg=5:g.176518784C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23044;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.74605;CSQ_gnomADe_AC=197096;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.800702;CSQ_gnomADe_Hom=79841;CSQ_COSMICcMuts=COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660;CSQ_COSMICncMuts=COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:R234R;CSQ_CADD_PHRED=9.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,150:201:0.74627:65:-100:0.159:20,50,15,26,14,25,27,66,18,35,17,38:100:100 +5 176518784 . C T 100 PASS DP=201;CSQ_Allele=T;CSQ_SYMBOL=FGFR4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/16;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=NM_022963.3:c.702C>T;CSQ_HGVSp=NP_075252.2:p.Arg234%3D;CSQ_HGVSg=5:g.176518784C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23044;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.74605;CSQ_gnomADe_AC=197096;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=0.800702;CSQ_gnomADe_Hom=79841;CSQ_COSMICcMuts=COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660;CSQ_COSMICncMuts=COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660&COSV52807660;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:R234R;CSQ_CADD_PHRED=9.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,150:201:0.74627:65:-100:0.159:20,50,15,26,14,25,27,66,18,35,17,38:100:100 +5 176519730 . C T 100 PASS DP=190;CSQ_Allele=T;CSQ_SYMBOL=FGFR4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/18;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.1002C>T;CSQ_HGVSp=NP_002002.3:p.Leu334%3D;CSQ_HGVSg=5:g.176519730C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=791423;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=191;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.00617045;CSQ_gnomADe_AC=1393;CSQ_gnomADe_AN=246134;CSQ_gnomADe_AF=0.00565952;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591;CSQ_COSMICncMuts=COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.18;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:L334L;CSQ_CADD_PHRED=5.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:182,8:190:0.04211:65:-100:0.1593:3,2,0,0,0,3,31,73,18,31,14,23:88.47:100 +5 176519730 . C T 100 PASS DP=190;CSQ_Allele=T;CSQ_SYMBOL=FGFR4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/16;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=NM_022963.3:c.1002C>T;CSQ_HGVSp=NP_075252.2:p.Leu334%3D;CSQ_HGVSg=5:g.176519730C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=791423;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=191;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.00617045;CSQ_gnomADe_AC=1393;CSQ_gnomADe_AN=246134;CSQ_gnomADe_AF=0.00565952;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591;CSQ_COSMICncMuts=COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591&COSV52803591;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.18;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:L334L;CSQ_CADD_PHRED=5.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:182,8:190:0.04211:65:-100:0.1593:3,2,0,0,0,3,31,73,18,31,14,23:88.47:100 +5 176520243 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=FGFR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/18;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.1162G>A;CSQ_HGVSp=NP_002002.3:p.Gly388Arg;CSQ_HGVSg=5:g.176520243G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=16326;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(1);CSQ_ClinVar_CLNDN=See_cases&Cancer_progression_and_tumor_cell_motility¬_specified;CSQ_gnomADg_AC=8407;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.272955;CSQ_gnomADe_AC=79372;CSQ_gnomADe_AN=242736;CSQ_gnomADe_AF=0.326989;CSQ_gnomADe_Hom=13760;CSQ_COSMICcMuts=COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825;CSQ_COSMICncMuts=COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=0.519;CSQ_Mastermind_MMID3=FGFR4:G353int&FGFR4:G353inta&FGFR4:G388R&FGFR4:S366int&FGFR4:S366intd;CSQ_CADD_PHRED=23.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,39:157:0.24841:65:-100:0.3053:7,10,9,6,2,5,26,51,28,22,10,20:100:100 +5 176520243 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=FGFR4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/15;CSQ_Feature=NM_022963.3;CSQ_HGVSc=NM_022963.3:c.1058-90G>A;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176520243G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=16326;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(1);CSQ_ClinVar_CLNDN=See_cases&Cancer_progression_and_tumor_cell_motility¬_specified;CSQ_gnomADg_AC=8407;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.272955;CSQ_gnomADe_AC=79372;CSQ_gnomADe_AN=242736;CSQ_gnomADe_AF=0.326989;CSQ_gnomADe_Hom=13760;CSQ_COSMICcMuts=COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825;CSQ_COSMICncMuts=COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825&COSV52800825;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR4:G353int&FGFR4:G353inta&FGFR4:G388R&FGFR4:S366int&FGFR4:S366intd;CSQ_CADD_PHRED=23.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,39:157:0.24841:65:-100:0.3053:7,10,9,6,2,5,26,51,28,22,10,20:100:100 +5 176520465 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=FGFR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/18;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=NM_002011.5:c.1310G>A;CSQ_HGVSp=NP_002002.3:p.Arg437His;CSQ_HGVSg=5:g.176520465G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=35;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.00113188;CSQ_gnomADe_AC=56;CSQ_gnomADe_AN=245994;CSQ_gnomADe_AF=0.000227648;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.533;CSQ_Mastermind_MMID3=FGFR4:R397H&FGFR4:R437H&FGFR4:V386I;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,21:166:0.12651:65:-100:0.1782:4,5,1,2,3,6,32,52,15,29,9,29:100:100 +5 176520465 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=FGFR4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/16;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=NM_022963.3:c.1190G>A;CSQ_HGVSp=NP_075252.2:p.Arg397His;CSQ_HGVSg=5:g.176520465G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=35;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.00113188;CSQ_gnomADe_AC=56;CSQ_gnomADe_AN=245994;CSQ_gnomADe_AF=0.000227648;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.533;CSQ_Mastermind_MMID3=FGFR4:R397H&FGFR4:R437H&FGFR4:V386I;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,21:166:0.12651:65:-100:0.1782:4,5,1,2,3,6,32,52,15,29,9,29:100:100 +5 176526115 . A T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=FGFR4;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002011.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176526115A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=523;CSQ_gnomADg_AN=30790;CSQ_gnomADg_AF=0.016986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.519 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,9:143:0.06294:65:-100:0.1386:1,5,1,0,1,1,29,39,24,20,10,21:100:100 +5 176526115 . A T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=FGFR4;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_022963.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176526115A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=523;CSQ_gnomADg_AN=30790;CSQ_gnomADg_AF=0.016986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.519 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,9:143:0.06294:65:-100:0.1386:1,5,1,0,1,1,29,39,24,20,10,21:100:100 +5 176562587 . T A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.483T>A;CSQ_HGVSp=NP_071900.2:p.Asp161Glu;CSQ_HGVSg=5:g.176562587T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.294;CSQ_Mastermind_MMID3=NSD1:D161E;CSQ_CADD_PHRED=19.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,9:170:0.05294:65:-100:0.0957:3,3,1,0,2,0,30,65,14,16,15,30:88.007:100 +5 176636882 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=NSD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.1482C>T;CSQ_HGVSp=NP_071900.2:p.Cys494%3D;CSQ_HGVSg=5:g.176636882C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=96035;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=11548;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.374206;CSQ_gnomADe_AC=71578;CSQ_gnomADe_AN=245658;CSQ_gnomADe_AF=0.291373;CSQ_gnomADe_Hom=12984;CSQ_COSMICcMuts=COSV61770800&COSV61770800&COSV61770800&COSV61770800;CSQ_COSMICncMuts=COSV61770800&COSV61770800;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NSD1:C225C&NSD1:C494C;CSQ_CADD_PHRED=11.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,57:131:0.43511:65:-100:0.1208:9,19,6,3,7,13,23,46,14,13,12,23:100:100 +5 176637149 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=NSD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.1749G>A;CSQ_HGVSp=NP_071900.2:p.Glu583%3D;CSQ_HGVSg=5:g.176637149G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=96038;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=4728;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.152891;CSQ_gnomADe_AC=43608;CSQ_gnomADe_AN=244630;CSQ_gnomADe_AF=0.178261;CSQ_gnomADe_Hom=5470;CSQ_COSMICcMuts=COSV61771201&COSV61771201&COSV61771201&COSV61771201;CSQ_COSMICncMuts=COSV61771201&COSV61771201;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NSD1:E314E&NSD1:E583E;CSQ_CADD_PHRED=9.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,32:163:0.19632:65:-100:0.1376:5,13,0,4,5,5,32,54,13,15,17,32:100:100 +5 176637240 . G T 100 PASS DP=173;CSQ_Allele=T;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.1840G>T;CSQ_HGVSp=NP_071900.2:p.Val614Leu;CSQ_HGVSg=5:g.176637240G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=96042;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=4676;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.15119;CSQ_gnomADe_AC=41802;CSQ_gnomADe_AN=234882;CSQ_gnomADe_AF=0.17797;CSQ_gnomADe_Hom=5248;CSQ_COSMICcMuts=COSV61771212&COSV61771212&COSV61771212&COSV61771212;CSQ_COSMICncMuts=COSV61771212&COSV61771212;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.189;CSQ_Mastermind_MMID3=NSD1:V345L&NSD1:V614L;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,50:173:0.28902:65:-100:0.1393:9,15,7,6,8,5,29,59,12,20,24,29:100:100 +5 176637471 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.2071G>A;CSQ_HGVSp=NP_071900.2:p.Ala691Thr;CSQ_HGVSg=5:g.176637471G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159279;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=659;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0212787;CSQ_gnomADe_AC=5098;CSQ_gnomADe_AN=246134;CSQ_gnomADe_AF=0.0207123;CSQ_gnomADe_Hom=74;CSQ_COSMICcMuts=COSV61770811&COSV61770811&COSV61770811&COSV61770811;CSQ_COSMICncMuts=COSV61770811&COSV61770811;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.196;CSQ_Mastermind_MMID3=NSD1:A422T&NSD1:A691T;CSQ_CADD_PHRED=18.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,19:169:0.11243:65:-100:0.0914:2,8,2,2,3,2,15,60,19,24,13,38:100:100 +5 176637576 . T C 100 PASS DP=155;CSQ_Allele=C;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.2176T>C;CSQ_HGVSp=NP_071900.2:p.Ser726Pro;CSQ_HGVSg=5:g.176637576T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=96043;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=5576;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.180476;CSQ_gnomADe_AC=49713;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=0.201939;CSQ_gnomADe_Hom=6433;CSQ_COSMICcMuts=COSV61770821&COSV61770821&COSV61770821&COSV61770821;CSQ_COSMICncMuts=COSV61770821&COSV61770821;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.163;CSQ_Mastermind_MMID3=NSD1:S457P&NSD1:S726P;CSQ_CADD_PHRED=14.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,44:155:0.28387:65:-100:0.1436:4,16,3,10,4,7,19,53,9,32,9,33:100:100 +5 176638506 . G C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.3106G>C;CSQ_HGVSp=NP_071900.2:p.Ala1036Pro;CSQ_HGVSg=5:g.176638506G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159301;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=878;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0283592;CSQ_gnomADe_AC=5605;CSQ_gnomADe_AN=245482;CSQ_gnomADe_AF=0.0228326;CSQ_gnomADe_Hom=77;CSQ_COSMICcMuts=COSV61770829&COSV61770829&COSV61770829&COSV61770829;CSQ_COSMICncMuts=COSV61770829&COSV61770829;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.248;CSQ_Mastermind_MMID3=NSD1:A1036P&NSD1:A767P;CSQ_CADD_PHRED=2.056 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,21:160:0.13125:65:-100:0.1304:3,8,2,2,1,5,23,64,10,26,7,30:100:100 +5 176638681 . T C 100 PASS DP=172;CSQ_Allele=C;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.3281T>C;CSQ_HGVSp=NP_071900.2:p.Met1094Thr;CSQ_HGVSg=5:g.176638681T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246188;CSQ_gnomADe_AF=4.06194e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61771581&COSV61771581&COSV61771581&COSV61771581;CSQ_COSMICncMuts=COSV61771581&COSV61771581;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=0.087;CSQ_Mastermind_MMID3=NSD1:M1094T;CSQ_CADD_PHRED=0.550 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,12:172:0.06977:65:-100:0.1179:1,4,3,2,0,2,25,68,11,32,11,25:100:100 +5 176696690 . CT C 100 PASS DP=169;CSQ_Allele=-;CSQ_SYMBOL=NSD1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=16/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.5397del;CSQ_HGVSp=NP_071900.2:p.Phe1799LeufsTer22;CSQ_HGVSg=5:g.176696696del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61771590&COSV61771590&COSV61771590&COSV61771590;CSQ_COSMICncMuts=COSV61771590&COSV61771590&COSV61771590&COSV61771590;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,9:169:0.05325:65:-100:0:0,5,0,2,1,1,23,69,11,24,17,25:100:100 +5 176721119 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.6750G>A;CSQ_HGVSp=NP_071900.2:p.Met2250Ile;CSQ_HGVSg=5:g.176721119G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=96070;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=1511;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.0488712;CSQ_gnomADe_AC=11564;CSQ_gnomADe_AN=246010;CSQ_gnomADe_AF=0.0470062;CSQ_gnomADe_Hom=351;CSQ_COSMICcMuts=COSV61770840&COSV61770840&COSV61770840&COSV61770840;CSQ_COSMICncMuts=COSV61770840;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.066;CSQ_Mastermind_MMID3=NSD1:M1981I&NSD1:M2250I;CSQ_CADD_PHRED=12.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,16:172:0.09302:65:-100:0.1485:2,6,4,2,1,1,27,66,16,26,13,24:100:100 +5 176721151 . T C 100 PASS DP=161;CSQ_Allele=C;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.6782T>C;CSQ_HGVSp=NP_071900.2:p.Met2261Thr;CSQ_HGVSg=5:g.176721151T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=96071;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=1510;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0487821;CSQ_gnomADe_AC=11556;CSQ_gnomADe_AN=246024;CSQ_gnomADe_AF=0.046971;CSQ_gnomADe_Hom=350;CSQ_COSMICcMuts=COSV61770852&COSV61770852&COSV61770852&COSV61770852;CSQ_COSMICncMuts=COSV61770852;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.199;CSQ_Mastermind_MMID3=NSD1:M1992T&NSD1:M2261T;CSQ_CADD_PHRED=0.074 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,12:161:0.07453:65:-100:0.1786:2,7,1,2,0,0,26,56,15,27,15,22:100:100 +5 176721198 . T C 100 PASS DP=170;CSQ_Allele=C;CSQ_SYMBOL=NSD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.6829T>C;CSQ_HGVSp=NP_071900.2:p.Leu2277%3D;CSQ_HGVSg=5:g.176721198T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=96073;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=26218;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.847985;CSQ_gnomADe_AC=201767;CSQ_gnomADe_AN=246032;CSQ_gnomADe_AF=0.820084;CSQ_gnomADe_Hom=84316;CSQ_COSMICcMuts=COSV61770055&COSV61770055&COSV61770055&COSV61770055;CSQ_COSMICncMuts=COSV61770055;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NSD1:L2008L&NSD1:L2277L;CSQ_CADD_PHRED=5.986 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,125:170:0.73529:65:-100:0.1748:23,46,11,10,17,18,28,62,16,17,22,25:100:100 +5 176721272 . G C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=NSD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.6903G>C;CSQ_HGVSp=NP_071900.2:p.Gly2301%3D;CSQ_HGVSg=5:g.176721272G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=96074;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sotos_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=5040;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.16317;CSQ_gnomADe_AC=46771;CSQ_gnomADe_AN=245428;CSQ_gnomADe_AF=0.190569;CSQ_gnomADe_Hom=5452;CSQ_COSMICcMuts=COSV61770866&COSV61770866&COSV61770866&COSV61770866;CSQ_COSMICncMuts=COSV61770866;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NSD1:G2032G&NSD1:G2301G;CSQ_CADD_PHRED=7.933 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,27:169:0.15976:65:-100:0.1289:5,14,0,2,2,4,24,76,8,26,10,25:100:100 +5 176721499 . A C 100 PASS DP=196;CSQ_Allele=C;CSQ_SYMBOL=NSD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_022455.5;CSQ_HGVSc=NM_022455.5:c.7130A>C;CSQ_HGVSp=NP_071900.2:p.Lys2377Thr;CSQ_HGVSg=5:g.176721499A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61771608&COSV61771608&COSV61771608&COSV61771608;CSQ_COSMICncMuts=COSV61771608;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=0.301;CSQ_Mastermind_MMID3=NSD1:K2377T;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,17:196:0.08673:65:-100:0.1441:1,6,2,2,1,5,31,67,12,37,15,34:100:100 +5 176940384 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=DDX41;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/17;CSQ_INTRON=.;CSQ_Feature=NM_016222.4;CSQ_HGVSc=NM_016222.4:c.1200C>T;CSQ_HGVSp=NP_057306.2:p.Arg400%3D;CSQ_HGVSg=5:g.176940384G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1278531;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=DDX41-related_hematologic_malignancy_predisposition_syndrome¬_provided;CSQ_gnomADg_AC=13557;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.439648;CSQ_gnomADe_AC=101622;CSQ_gnomADe_AN=245854;CSQ_gnomADe_AF=0.413343;CSQ_gnomADe_Hom=22123;CSQ_COSMICcMuts=COSV57250806;CSQ_COSMICncMuts=COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806&COSV57250806;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DDX41:R274R&DDX41:R400R;CSQ_CADD_PHRED=2.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,105:166:0.63253:65:-100:0.1741:17,28,12,14,11,23,32,53,19,19,15,28:100:100 +5 176942043 . G A 100 PASS DP=208;CSQ_Allele=A;CSQ_SYMBOL=DDX41;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/17;CSQ_INTRON=.;CSQ_Feature=NM_016222.4;CSQ_HGVSc=NM_016222.4:c.672C>T;CSQ_HGVSp=NP_057306.2:p.Ile224%3D;CSQ_HGVSg=5:g.176942043G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=246224;CSQ_gnomADe_AF=1.2184e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.24;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:198,10:208:0.04808:65:-100:0.1475:0,3,0,5,0,2,38,74,18,37,10,31:92.005:100 +5 176943904 . C G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=DDX41;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/16;CSQ_Feature=NM_016222.4;CSQ_HGVSc=NM_016222.4:c.27+16G>C;CSQ_HGVSp=.;CSQ_HGVSg=5:g.176943904C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1274579;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=891;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0287846;CSQ_gnomADe_AC=1807;CSQ_gnomADe_AN=243236;CSQ_gnomADe_AF=0.007429;CSQ_gnomADe_Hom=92;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.875 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,16:157:0.10191:65:-100:0.1374:3,4,2,1,2,4,18,65,12,19,14,29:100:100 +5 180030313 . C A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=5:g.180030313C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263057;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2335;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0754394;CSQ_gnomADe_AC=19052;CSQ_gnomADe_AN=242024;CSQ_gnomADe_AF=0.0787195;CSQ_gnomADe_Hom=907;CSQ_COSMICcMuts=COSV56108334;CSQ_COSMICncMuts=COSV56108334&COSV56108334&COSV56108334;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,13:148:0.08784:65:-100:0.103:3,3,1,1,3,2,24,61,11,24,13,15:100:100 +5 180030313 . C A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=30/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.3971G>T;CSQ_HGVSp=NP_891555.2:p.Arg1324Leu;CSQ_HGVSg=5:g.180030313C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263057;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2335;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0754394;CSQ_gnomADe_AC=19052;CSQ_gnomADe_AN=242024;CSQ_gnomADe_AF=0.0787195;CSQ_gnomADe_Hom=907;CSQ_COSMICcMuts=COSV56108334;CSQ_COSMICncMuts=COSV56108334&COSV56108334&COSV56108334;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=0.068;CSQ_Mastermind_MMID3=FLT4:R1324L;CSQ_CADD_PHRED=0.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,13:148:0.08784:65:-100:0.103:3,3,1,1,3,2,24,61,11,24,13,15:100:100 +5 180043388 . G A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.3198C>T;CSQ_HGVSp=NP_002011.2:p.Pro1066%3D;CSQ_HGVSg=5:g.180043388G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263044;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_lymphedema_type_I&Congenital_heart_defects&_multiple_types&_7¬_specified¬_provided;CSQ_gnomADg_AC=7328;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.23706;CSQ_gnomADe_AC=65467;CSQ_gnomADe_AN=246158;CSQ_gnomADe_AF=0.265955;CSQ_gnomADe_Hom=9280;CSQ_COSMICcMuts=COSV56099249&COSV56099249&COSV56099249;CSQ_COSMICncMuts=COSV56099249&COSV56099249&COSV56099249;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT4:P1066P;CSQ_CADD_PHRED=10.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,60:160:0.375:65:-100:0.1304:10,20,3,9,6,12,28,55,10,24,11,32:100:100 +5 180043388 . G A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.3198C>T;CSQ_HGVSp=NP_891555.2:p.Pro1066%3D;CSQ_HGVSg=5:g.180043388G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263044;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_lymphedema_type_I&Congenital_heart_defects&_multiple_types&_7¬_specified¬_provided;CSQ_gnomADg_AC=7328;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.23706;CSQ_gnomADe_AC=65467;CSQ_gnomADe_AN=246158;CSQ_gnomADe_AF=0.265955;CSQ_gnomADe_Hom=9280;CSQ_COSMICcMuts=COSV56099249&COSV56099249&COSV56099249;CSQ_COSMICncMuts=COSV56099249&COSV56099249&COSV56099249;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT4:P1066P;CSQ_CADD_PHRED=10.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,60:160:0.375:65:-100:0.1304:10,20,3,9,6,12,28,55,10,24,11,32:100:100 +5 180043449 . G A 100 PASS DP=181;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.3137C>T;CSQ_HGVSp=NP_002011.2:p.Ser1046Leu;CSQ_HGVSg=5:g.180043449G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=4.0625e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56097615&COSV56097615&COSV56097615;CSQ_COSMICncMuts=COSV56097615&COSV56097615&COSV56097615;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.792;CSQ_Mastermind_MMID3=FLT4:S1046L;CSQ_CADD_PHRED=26.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,8:181:0.0442:65:-93.8296:0.1214:2,2,1,3,0,0,30,50,14,38,15,34:76.151:100 +5 180043449 . G A 100 PASS DP=181;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.3137C>T;CSQ_HGVSp=NP_891555.2:p.Ser1046Leu;CSQ_HGVSg=5:g.180043449G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246154;CSQ_gnomADe_AF=4.0625e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56097615&COSV56097615&COSV56097615;CSQ_COSMICncMuts=COSV56097615&COSV56097615&COSV56097615;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.792;CSQ_Mastermind_MMID3=FLT4:S1046L;CSQ_CADD_PHRED=26.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,8:181:0.0442:65:-93.8296:0.1214:2,2,1,3,0,0,30,50,14,38,15,34:76.151:100 +5 180046344 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/30;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.2670C>G;CSQ_HGVSp=NP_002011.2:p.His890Gln;CSQ_HGVSg=5:g.180046344G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263039;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_lymphedema_type_I&Congenital_heart_defects&_multiple_types&_7¬_specified¬_provided;CSQ_gnomADg_AC=19008;CSQ_gnomADg_AN=30578;CSQ_gnomADg_AF=0.621623;CSQ_gnomADe_AC=151327;CSQ_gnomADe_AN=240152;CSQ_gnomADe_AF=0.63013;CSQ_gnomADe_Hom=48517;CSQ_COSMICcMuts=COSV56098125&COSV56098125&COSV56098125;CSQ_COSMICncMuts=COSV56098125&COSV56098125;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=0.310;CSQ_Mastermind_MMID3=FLT4:H890Q;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,64:129:0.49612:65:-100:0.2037:20,15,6,8,9,6,31,36,16,15,15,16:100:100 +5 180046344 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.2670C>G;CSQ_HGVSp=NP_891555.2:p.His890Gln;CSQ_HGVSg=5:g.180046344G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263039;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_lymphedema_type_I&Congenital_heart_defects&_multiple_types&_7¬_specified¬_provided;CSQ_gnomADg_AC=19008;CSQ_gnomADg_AN=30578;CSQ_gnomADg_AF=0.621623;CSQ_gnomADe_AC=151327;CSQ_gnomADe_AN=240152;CSQ_gnomADe_AF=0.63013;CSQ_gnomADe_Hom=48517;CSQ_COSMICcMuts=COSV56098125&COSV56098125&COSV56098125;CSQ_COSMICncMuts=COSV56098125&COSV56098125;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=0.310;CSQ_Mastermind_MMID3=FLT4:H890Q;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,64:129:0.49612:65:-100:0.2037:20,15,6,8,9,6,31,36,16,15,15,16:100:100 +5 180046492 . CAG C 100 PASS DP=154;CSQ_Allele=-;CSQ_SYMBOL=FLT4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/29;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.2648-128_2648-127del;CSQ_HGVSp=.;CSQ_HGVSg=5:g.180046495_180046496del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1277383;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=20602;CSQ_gnomADg_AN=30652;CSQ_gnomADg_AF=0.672126;CSQ_gnomADe_AC=151208;CSQ_gnomADe_AN=220458;CSQ_gnomADe_AF=0.685881;CSQ_gnomADe_Hom=52299;CSQ_COSMICcMuts=COSV56108791&COSV56108791&COSV56108791;CSQ_COSMICncMuts=COSV56108791&COSV56108791&COSV56108791;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.034 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,76:154:0.49351:65:-100:0:8,29,9,9,6,15,18,58,14,14,16,34:100:100 +5 180046492 . CAG C 100 PASS DP=154;CSQ_Allele=-;CSQ_SYMBOL=FLT4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/29;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.2648-128_2648-127del;CSQ_HGVSp=.;CSQ_HGVSg=5:g.180046495_180046496del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1277383;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=20602;CSQ_gnomADg_AN=30652;CSQ_gnomADg_AF=0.672126;CSQ_gnomADe_AC=151208;CSQ_gnomADe_AN=220458;CSQ_gnomADe_AF=0.685881;CSQ_gnomADe_Hom=52299;CSQ_COSMICcMuts=COSV56108791&COSV56108791&COSV56108791;CSQ_COSMICncMuts=COSV56108791&COSV56108791&COSV56108791;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.034 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,76:154:0.49351:65:-100:0:8,29,9,9,6,15,18,58,14,14,16,34:100:100 +5 180046652 . G A 100 PASS DP=188;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/29;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.2647+13C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.180046652G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56111531&COSV56111531&COSV56111531;CSQ_COSMICncMuts=COSV56111531&COSV56111531&COSV56111531;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.15;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.704 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:175,13:188:0.06915:65:-100:0.157:3,5,1,3,0,1,31,63,13,28,16,37:100:100 +5 180046652 . G A 100 PASS DP=188;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/29;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.2647+13C>T;CSQ_HGVSp=.;CSQ_HGVSg=5:g.180046652G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56111531&COSV56111531&COSV56111531;CSQ_COSMICncMuts=COSV56111531&COSV56111531&COSV56111531;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.15;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.704 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:175,13:188:0.06915:65:-100:0.157:3,5,1,3,0,1,31,63,13,28,16,37:100:100 +5 180048641 . G A 100 PASS DP=144;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/30;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.1921C>T;CSQ_HGVSp=NP_002011.2:p.Pro641Ser;CSQ_HGVSg=5:g.180048641G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263032;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon¬_specified¬_provided;CSQ_gnomADg_AC=101;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.00326903;CSQ_gnomADe_AC=918;CSQ_gnomADe_AN=241104;CSQ_gnomADe_AF=0.00380749;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV56099287&COSV56099287&COSV56099287;CSQ_COSMICncMuts=COSV56099287&COSV56099287;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.181;CSQ_Mastermind_MMID3=FLT4:P641S;CSQ_CADD_PHRED=22.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,9:144:0.0625:65:-97.5933:0.1628:0,4,2,1,0,2,18,53,12,26,9,26:86.557:100 +5 180048641 . G A 100 PASS DP=144;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.1921C>T;CSQ_HGVSp=NP_891555.2:p.Pro641Ser;CSQ_HGVSg=5:g.180048641G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263032;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon¬_specified¬_provided;CSQ_gnomADg_AC=101;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.00326903;CSQ_gnomADe_AC=918;CSQ_gnomADe_AN=241104;CSQ_gnomADe_AF=0.00380749;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV56099287&COSV56099287&COSV56099287;CSQ_COSMICncMuts=COSV56099287&COSV56099287;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.181;CSQ_Mastermind_MMID3=FLT4:P641S;CSQ_CADD_PHRED=22.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,9:144:0.0625:65:-97.5933:0.1628:0,4,2,1,0,2,18,53,12,26,9,26:86.557:100 +5 180050947 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=FLT4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/30;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.1536G>A;CSQ_HGVSp=NP_002011.2:p.Glu512%3D;CSQ_HGVSg=5:g.180050947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56100107&COSV56100107&COSV56100107;CSQ_COSMICncMuts=COSV56100107&COSV56100107&COSV56100107;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,13:152:0.08553:65:-100:0.1602:3,5,2,1,0,2,30,54,12,21,13,22:100:100 +5 180050947 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=FLT4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.1536G>A;CSQ_HGVSp=NP_891555.2:p.Glu512%3D;CSQ_HGVSg=5:g.180050947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56100107&COSV56100107&COSV56100107;CSQ_COSMICncMuts=COSV56100107&COSV56100107&COSV56100107;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,13:152:0.08553:65:-100:0.1602:3,5,2,1,0,2,30,54,12,21,13,22:100:100 +5 180051003 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/30;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.1480A>G;CSQ_HGVSp=NP_002011.2:p.Thr494Ala;CSQ_HGVSg=5:g.180051003T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263028;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2295;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.0742959;CSQ_gnomADe_AC=21911;CSQ_gnomADe_AN=245700;CSQ_gnomADe_AF=0.0891779;CSQ_gnomADe_Hom=1220;CSQ_COSMICcMuts=COSV56108373&COSV56108373&COSV56108373;CSQ_COSMICncMuts=COSV56108373&COSV56108373&COSV56108373;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.125;CSQ_Mastermind_MMID3=FLT4:T494A;CSQ_CADD_PHRED=11.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,18:152:0.11842:65:-100:0.1602:7,4,2,2,3,0,33,48,15,22,8,26:100:100 +5 180051003 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.1480A>G;CSQ_HGVSp=NP_891555.2:p.Thr494Ala;CSQ_HGVSg=5:g.180051003T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263028;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2295;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.0742959;CSQ_gnomADe_AC=21911;CSQ_gnomADe_AN=245700;CSQ_gnomADe_AF=0.0891779;CSQ_gnomADe_Hom=1220;CSQ_COSMICcMuts=COSV56108373&COSV56108373&COSV56108373;CSQ_COSMICncMuts=COSV56108373&COSV56108373&COSV56108373;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.125;CSQ_Mastermind_MMID3=FLT4:T494A;CSQ_CADD_PHRED=11.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,18:152:0.11842:65:-100:0.1602:7,4,2,2,3,0,33,48,15,22,8,26:100:100 +5 180057231 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/30;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.507G>T;CSQ_HGVSp=NP_002011.2:p.Leu169%3D;CSQ_HGVSg=5:g.180057231C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263064;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2449;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.0792967;CSQ_gnomADe_AC=18745;CSQ_gnomADe_AN=245162;CSQ_gnomADe_AF=0.0764596;CSQ_gnomADe_Hom=870;CSQ_COSMICcMuts=COSV56099321&COSV56099321&COSV56099321;CSQ_COSMICncMuts=COSV56099321;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT4:L169L;CSQ_CADD_PHRED=5.673 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,25:147:0.17007:65:-100:0.2723:5,8,1,3,3,5,27,53,9,23,14,21:100:100 +5 180057231 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FLT4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.507G>T;CSQ_HGVSp=NP_891555.2:p.Leu169%3D;CSQ_HGVSg=5:g.180057231C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263064;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2449;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.0792967;CSQ_gnomADe_AC=18745;CSQ_gnomADe_AN=245162;CSQ_gnomADe_AF=0.0764596;CSQ_gnomADe_Hom=870;CSQ_COSMICcMuts=COSV56099321&COSV56099321&COSV56099321;CSQ_COSMICncMuts=COSV56099321;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT4:L169L;CSQ_CADD_PHRED=5.673 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,25:147:0.17007:65:-100:0.2723:5,8,1,3,3,5,27,53,9,23,14,21:100:100 +5 180057293 . T C 100 PASS DP=208;CSQ_Allele=C;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/30;CSQ_INTRON=.;CSQ_Feature=NM_002020.5;CSQ_HGVSc=NM_002020.5:c.445A>G;CSQ_HGVSp=NP_002011.2:p.Asn149Asp;CSQ_HGVSg=5:g.180057293T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263062;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2440;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.078944;CSQ_gnomADe_AC=18195;CSQ_gnomADe_AN=244926;CSQ_gnomADe_AF=0.0742877;CSQ_gnomADe_Hom=907;CSQ_COSMICcMuts=COSV56097170&COSV56097170&COSV56097170;CSQ_COSMICncMuts=COSV56097170;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.064;CSQ_Mastermind_MMID3=FLT4:N149D;CSQ_CADD_PHRED=15.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:196,12:208:0.05769:65:-100:0.1073:1,3,1,0,4,3,34,66,19,29,24,36:100:100 +5 180057293 . T C 100 PASS DP=208;CSQ_Allele=C;CSQ_SYMBOL=FLT4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/30;CSQ_INTRON=.;CSQ_Feature=NM_182925.5;CSQ_HGVSc=NM_182925.5:c.445A>G;CSQ_HGVSp=NP_891555.2:p.Asn149Asp;CSQ_HGVSg=5:g.180057293T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=263062;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2440;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.078944;CSQ_gnomADe_AC=18195;CSQ_gnomADe_AN=244926;CSQ_gnomADe_AF=0.0742877;CSQ_gnomADe_Hom=907;CSQ_COSMICcMuts=COSV56097170&COSV56097170&COSV56097170;CSQ_COSMICncMuts=COSV56097170;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.064;CSQ_Mastermind_MMID3=FLT4:N149D;CSQ_CADD_PHRED=15.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:196,12:208:0.05769:65:-100:0.1073:1,3,1,0,4,3,34,66,19,29,24,36:100:100 +6 20420242 . G A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.18+16179G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20420242G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8713;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.281865;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.660 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,19:106:0.17925:65:-100:0.1587:3,5,3,3,2,3,15,35,11,18,6,21:100:100 +6 20420242 . G A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.393+17386G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20420242G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8713;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.281865;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.660 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,19:106:0.17925:65:-100:0.1587:3,5,3,3,2,3,15,35,11,18,6,21:100:100 +6 20421206 . A C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.18+17143A>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20421206A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=49;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.00158156;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.686 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,5:119:0.04202:65:-96.4889:0.1377:2,1,0,0,1,1,26,39,12,23,11,8:64.869:100 +6 20421206 . A C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.393+18350A>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20421206A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=49;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.00158156;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.686 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,5:119:0.04202:65:-96.4889:0.1377:2,1,0,0,1,1,26,39,12,23,11,8:64.869:100 +6 20423227 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.18+19164G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20423227G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8826;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.285428;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,20:130:0.15385:65:-100:0.1216:3,7,0,3,3,4,20,40,10,23,9,28:100:100 +6 20423227 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.393+20371G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20423227G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8826;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.285428;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,20:130:0.15385:65:-100:0.1216:3,7,0,3,3,4,20,40,10,23,9,28:100:100 +6 20433326 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.18+29263A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20433326A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.693 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,12:137:0.08759:65:-100:0.1543:2,7,0,1,1,1,16,49,11,30,11,20:100:100 +6 20433326 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.393+30470A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20433326A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.693 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,12:137:0.08759:65:-100:0.1543:2,7,0,1,1,1,16,49,11,30,11,20:100:100 +6 20447293 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.19-32784A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20447293A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30013;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.969162;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.339 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,136:141:0.96454:65:-100:0.1019:15,50,12,27,8,24,15,52,12,28,8,26:100:100 +6 20447293 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.394-32784A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20447293A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30013;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.969162;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.339 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,136:141:0.96454:65:-100:0.1019:15,50,12,27,8,24,15,52,12,28,8,26:100:100 +6 20461302 . T C 100 PASS DP=81;CSQ_Allele=C;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.19-18775T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20461302T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20749;CSQ_gnomADg_AN=30460;CSQ_gnomADg_AF=0.681188;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=E2F3:P131int&E2F3:P131inta&E2F3:Q6int&E2F3:Q6inta;CSQ_CADD_PHRED=3.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,73:81:0.90123:65:-100:0.3306:15,18,6,13,11,10,19,19,6,15,12,10:100:100 +6 20461302 . T C 100 PASS DP=81;CSQ_Allele=C;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.394-18775T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20461302T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20749;CSQ_gnomADg_AN=30460;CSQ_gnomADg_AF=0.681188;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=E2F3:P131int&E2F3:P131inta&E2F3:Q6int&E2F3:Q6inta;CSQ_CADD_PHRED=3.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,73:81:0.90123:65:-100:0.3306:15,18,6,13,11,10,19,19,6,15,12,10:100:100 +6 20467228 . C T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.19-12849C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20467228C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4007;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.129676;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.297 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,11:104:0.10577:65:-100:0.2061:2,3,0,3,0,3,18,34,4,18,10,20:100:100 +6 20467228 . C T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.394-12849C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20467228C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4007;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.129676;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.297 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,11:104:0.10577:65:-100:0.2061:2,3,0,3,0,3,18,34,4,18,10,20:100:100 +6 20481825 . T C 100 PASS DP=104;CSQ_Allele=C;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.332+169T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20481825T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23605;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.763323;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.09;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.103 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,39:104:0.375:65:-100:0.1938:5,11,4,11,1,7,11,40,9,20,8,16:100:100 +6 20481825 . T C 100 PASS DP=104;CSQ_Allele=C;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.725+169T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20481825T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23605;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.763323;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.09;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.103 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,39:104:0.375:65:-100:0.1938:5,11,4,11,1,7,11,40,9,20,8,16:100:100 +6 20483407 . C T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.491+256C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20483407C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4834;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.15639;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=E2F3:R164int&E2F3:R164intd&E2F3:R295int&E2F3:R295intd;CSQ_CADD_PHRED=13.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,29:138:0.21014:65:-100:0.1097:7,7,2,4,2,7,22,40,9,25,15,27:100:100 +6 20483407 . C T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.884+256C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20483407C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4834;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.15639;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=E2F3:R164int&E2F3:R164intd&E2F3:R295int&E2F3:R295intd;CSQ_CADD_PHRED=13.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,29:138:0.21014:65:-100:0.1097:7,7,2,4,2,7,22,40,9,25,15,27:100:100 +6 20487250 . T G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.606+216T>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20487250T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18961;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.613585;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=E2F3:E202int&E2F3:E202intd&E2F3:E333int&E2F3:E333intd;CSQ_CADD_PHRED=3.845 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,68:140:0.48571:65:-100:0.1195:13,20,5,10,10,10,25,42,17,20,16,20:100:100 +6 20487250 . T G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.999+216T>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20487250T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18961;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.613585;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=E2F3:E202int&E2F3:E202intd&E2F3:E333int&E2F3:E333intd;CSQ_CADD_PHRED=3.845 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,68:140:0.48571:65:-100:0.1195:13,20,5,10,10,10,25,42,17,20,16,20:100:100 +6 20488234 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.607-110G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20488234G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10205;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.329875;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=E2F3:E202int&E2F3:E202inta&E2F3:E333int&E2F3:E333inta;CSQ_CADD_PHRED=2.581 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,32:147:0.21769:65:-100:0.16:3,11,1,6,4,7,20,53,15,29,7,23:100:100 +6 20488234 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.1000-110G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20488234G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10205;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.329875;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=E2F3:E202int&E2F3:E202inta&E2F3:E333int&E2F3:E333inta;CSQ_CADD_PHRED=2.581 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,32:147:0.21769:65:-100:0.16:3,11,1,6,4,7,20,53,15,29,7,23:100:100 +6 20489663 . A C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.743-736A>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20489663A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10632;CSQ_gnomADg_AN=30756;CSQ_gnomADg_AF=0.345689;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.345 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,22:133:0.16541:65:-100:0.1419:5,10,0,3,2,2,23,51,7,25,8,19:100:100 +6 20489663 . A C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=E2F3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.1136-736A>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20489663A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10632;CSQ_gnomADg_AN=30756;CSQ_gnomADg_AF=0.345689;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.345 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,22:133:0.16541:65:-100:0.1419:5,10,0,3,2,2,23,51,7,25,8,19:100:100 +6 20491910 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=E2F3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001243076.3;CSQ_HGVSc=NM_001243076.3:c.*1249A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20491910A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00203646;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.205 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,20:160:0.125:65:-100:0.1111:4,10,1,1,1,3,26,61,13,25,10,25:100:100 +6 20491910 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=E2F3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001949.5;CSQ_HGVSc=NM_001949.5:c.*1249A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.20491910A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00203646;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.205 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,20:160:0.125:65:-100:0.1111:4,10,1,1,1,3,26,61,13,25,10,25:100:100 +6 26031899 . G A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=HIST1H3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_003537.4;CSQ_HGVSc=NM_003537.4:c.390C>T;CSQ_HGVSp=NP_003528.1:p.Arg130%3D;CSQ_HGVSg=6:g.26031899G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245226;CSQ_gnomADe_AF=8.15574e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52518294;CSQ_COSMICncMuts=COSV52518294&COSV52518294;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.362 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,6:105:0.05714:65:-100:0.1102:0,2,1,0,2,1,21,31,15,15,9,14:75.572:100 +6 26044064 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=HIST1H3C;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_003531.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=6:g.26044064G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5742;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.18597;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.318 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,31:130:0.23846:65:-100:0.1503:4,15,1,5,3,3,22,54,9,16,6,23:100:100 +6 26045737 . C G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=HIST1H3C;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_003531.3;CSQ_HGVSc=NM_003531.3:c.99C>G;CSQ_HGVSp=NP_003522.1:p.Thr33%3D;CSQ_HGVSg=6:g.26045737C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3309;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.106838;CSQ_gnomADe_AC=37012;CSQ_gnomADe_AN=245298;CSQ_gnomADe_AF=0.150886;CSQ_gnomADe_Hom=5003;CSQ_COSMICcMuts=COSV63550672;CSQ_COSMICncMuts=COSV63550672&COSV63550672;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H3C3:T33T;CSQ_CADD_PHRED=0.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,18:113:0.15929:65:-100:0.1504:7,3,2,1,0,5,26,31,8,19,6,23:100:100 +6 26045929 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=HIST1H3C;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_003531.3;CSQ_HGVSc=NM_003531.3:c.291T>C;CSQ_HGVSp=NP_003522.1:p.Cys97%3D;CSQ_HGVSg=6:g.26045929T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21611;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.698888;CSQ_gnomADe_AC=166013;CSQ_gnomADe_AN=246172;CSQ_gnomADe_AF=0.674378;CSQ_gnomADe_Hom=56555;CSQ_COSMICcMuts=COSV63551327;CSQ_COSMICncMuts=COSV63551327&COSV63551327;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H3C3:C97C;CSQ_CADD_PHRED=10.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,70:103:0.67961:65:-100:0.1488:11,20,2,13,13,11,16,31,9,16,15,16:100:100 +6 26056072 . G C 100 PASS DP=110;CSQ_Allele=C;CSQ_SYMBOL=HIST1H1C;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_005319.4;CSQ_HGVSc=NM_005319.4:c.585C>G;CSQ_HGVSp=NP_005310.1:p.Pro195%3D;CSQ_HGVSg=6:g.26056072G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5435;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.175606;CSQ_gnomADe_AC=41382;CSQ_gnomADe_AN=245842;CSQ_gnomADe_AF=0.168328;CSQ_gnomADe_Hom=4000;CSQ_COSMICcMuts=COSV59189894;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H1-2:P195P;CSQ_CADD_PHRED=10.71 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,32:110:0.29091:65:-100:0.1791:6,9,5,4,4,4,17,35,11,23,7,17:100:100 +6 26056253 . G A 100 PASS DP=116;CSQ_Allele=A;CSQ_SYMBOL=HIST1H1C;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_005319.4;CSQ_HGVSc=NM_005319.4:c.404C>T;CSQ_HGVSp=NP_005310.1:p.Ala135Val;CSQ_HGVSg=6:g.26056253G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=4.0626e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59193055;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=0.184;CSQ_Mastermind_MMID3=H1-2:A135V;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,8:116:0.06897:65:-100:0.1714:1,2,3,1,0,1,22,44,14,18,6,12:100:100 +6 26056549 . A G 100 PASS DP=105;CSQ_Allele=G;CSQ_SYMBOL=HIST1H1C;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_005319.4;CSQ_HGVSc=NM_005319.4:c.108T>C;CSQ_HGVSp=NP_005310.1:p.Ser36%3D;CSQ_HGVSg=6:g.26056549A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22935;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.741273;CSQ_gnomADe_AC=167059;CSQ_gnomADe_AN=246032;CSQ_gnomADe_AF=0.679013;CSQ_gnomADe_Hom=57722;CSQ_COSMICcMuts=COSV59191826;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H1-2:S36S;CSQ_CADD_PHRED=0.535 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,73:105:0.69524:65:-100:0.087:13,30,3,14,5,8,15,43,5,20,7,15:100:100 +6 26056604 . G A 100 PASS DP=92;CSQ_Allele=A;CSQ_SYMBOL=HIST1H1C;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_005319.4;CSQ_HGVSc=NM_005319.4:c.53C>T;CSQ_HGVSp=NP_005310.1:p.Ala18Val;CSQ_HGVSg=6:g.26056604G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1799;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0580735;CSQ_gnomADe_AC=26670;CSQ_gnomADe_AN=241480;CSQ_gnomADe_AF=0.110444;CSQ_gnomADe_Hom=3986;CSQ_COSMICcMuts=COSV59189810;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.138;CSQ_Mastermind_MMID3=H1-2:A18V;CSQ_CADD_PHRED=12.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,12:92:0.13043:65:-100:0.2137:2,5,0,2,2,1,23,29,6,17,7,10:100:100 +6 26271241 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=HIST1H3G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_003534.3;CSQ_HGVSc=NM_003534.3:c.372C>T;CSQ_HGVSp=NP_003525.1:p.Asp124%3D;CSQ_HGVSg=6:g.26271241G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1020;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.0329245;CSQ_gnomADe_AC=9235;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.0375004;CSQ_gnomADe_Hom=232;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H3C8:D124D;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,9:102:0.08824:65:-100:0.113:2,4,1,1,0,1,13,37,6,19,6,21:100:100 +6 27778097 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=HIST1H3H;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_003536.3;CSQ_HGVSc=NM_003536.3:c.246C>T;CSQ_HGVSp=NP_003527.1:p.Asp82%3D;CSQ_HGVSg=6:g.27778097C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1571;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.05072;CSQ_gnomADe_AC=10259;CSQ_gnomADe_AN=246256;CSQ_gnomADe_AF=0.0416599;CSQ_gnomADe_Hom=268;CSQ_COSMICcMuts=COSV60798901;CSQ_COSMICncMuts=COSV60798901&COSV60798901&COSV60798901&COSV60798901&COSV60798901;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H3C10:D82D;CSQ_CADD_PHRED=13.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,25:131:0.19084:65:-100:0.0839:5,10,2,1,1,6,22,41,13,25,6,24:100:100 +6 27839746 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=HIST1H3I;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_003533.3;CSQ_HGVSc=NM_003533.3:c.348A>G;CSQ_HGVSp=NP_003524.1:p.Lys116%3D;CSQ_HGVSg=6:g.27839746T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6834;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.220979;CSQ_gnomADe_AC=43105;CSQ_gnomADe_AN=246210;CSQ_gnomADe_AF=0.175074;CSQ_gnomADe_Hom=4636;CSQ_COSMICcMuts=COSV58900412;CSQ_COSMICncMuts=COSV58900412&COSV58900412;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H3C11:K116K;CSQ_CADD_PHRED=10.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,21:130:0.16154:65:-100:0.1333:4,9,0,2,2,4,20,42,10,26,8,24:100:100 +6 27858421 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=HIST1H3J;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_003535.3;CSQ_HGVSc=NM_003535.3:c.150T>C;CSQ_HGVSp=NP_003526.1:p.Arg50%3D;CSQ_HGVSg=6:g.27858421A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4949;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.159965;CSQ_gnomADe_AC=34853;CSQ_gnomADe_AN=246000;CSQ_gnomADe_AF=0.141679;CSQ_gnomADe_Hom=2759;CSQ_COSMICcMuts=COSV58152626;CSQ_COSMICncMuts=COSV58152626&COSV58152626;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H3C12:R50R;CSQ_CADD_PHRED=15.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,11:160:0.06875:65:-100:0.1534:3,2,1,0,0,5,22,62,9,20,15,32:100:100 +6 30668374 . G A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=MDC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.6138C>T;CSQ_HGVSp=NP_055456.2:p.Phe2046%3D;CSQ_HGVSg=6:g.30668374G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1265487;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1147;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0370909;CSQ_gnomADe_AC=4726;CSQ_gnomADe_AN=240442;CSQ_gnomADe_AF=0.0196555;CSQ_gnomADe_Hom=144;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.995 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,8:158:0.05063:65:-100:0.1366:0,1,1,2,1,3,15,54,15,30,16,28:92.911:100 +6 30672342 . A G 100 PASS DP=169;CSQ_Allele=G;CSQ_SYMBOL=MDC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.4618T>C;CSQ_HGVSp=NP_055456.2:p.Ser1540Pro;CSQ_HGVSg=6:g.30672342A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3577;CSQ_gnomADg_AN=30276;CSQ_gnomADg_AF=0.118146;CSQ_gnomADe_AC=21751;CSQ_gnomADe_AN=246108;CSQ_gnomADe_AF=0.0883799;CSQ_gnomADe_Hom=1612;CSQ_COSMICcMuts=COSV64525166&COSV64525166;CSQ_COSMICncMuts=COSV64525166&COSV64525166&COSV64525166;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.029;CSQ_Mastermind_MMID3=MDC1:S1540P;CSQ_CADD_PHRED=0.007 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,16:169:0.09467:65:-100:0.214:2,6,0,3,2,3,32,56,17,24,13,27:100:100 +6 30672433 . C A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=MDC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.4527G>T;CSQ_HGVSp=NP_055456.2:p.Glu1509Asp;CSQ_HGVSg=6:g.30672433C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1216;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.0394728;CSQ_gnomADe_AC=5387;CSQ_gnomADe_AN=245888;CSQ_gnomADe_AF=0.0219083;CSQ_gnomADe_Hom=124;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.032;CSQ_Mastermind_MMID3=MDC1:E1509D;CSQ_CADD_PHRED=12.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,8:170:0.04706:65:-100:0.1584:2,4,1,0,0,1,27,59,21,19,16,28:87.451:100 +6 30673013 . A G 100 PASS DP=174;CSQ_Allele=G;CSQ_SYMBOL=MDC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.3947T>C;CSQ_HGVSp=NP_055456.2:p.Met1316Thr;CSQ_HGVSg=6:g.30673013A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1066;CSQ_gnomADg_AN=20152;CSQ_gnomADg_AF=0.052898;CSQ_gnomADe_AC=4713;CSQ_gnomADe_AN=226180;CSQ_gnomADe_AF=0.0208374;CSQ_gnomADe_Hom=138;CSQ_COSMICcMuts=COSV64529095&COSV64529095;CSQ_COSMICncMuts=COSV64529095&COSV64529095&COSV64529095;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.004;CSQ_Mastermind_MMID3=MDC1:M1316T;CSQ_CADD_PHRED=5.895 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:165,9:174:0.05172:65:-100:0.2335:2,2,0,3,0,2,28,53,15,27,16,35:87.574:100 +6 30673489 . G C 100 PASS DP=159;CSQ_Allele=C;CSQ_SYMBOL=MDC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.3471C>G;CSQ_HGVSp=NP_055456.2:p.Thr1157%3D;CSQ_HGVSg=6:g.30673489G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1308;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.0424097;CSQ_gnomADe_AC=7418;CSQ_gnomADe_AN=245496;CSQ_gnomADe_AF=0.0302164;CSQ_gnomADe_Hom=215;CSQ_COSMICcMuts=COSV64523327&COSV64523327;CSQ_COSMICncMuts=COSV64523327;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.577 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,8:159:0.05031:65:-100:0.1888:1,5,1,0,1,0,26,61,12,24,14,22:82.99:100 +6 30675605 . T G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=MDC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.2751A>C;CSQ_HGVSp=NP_055456.2:p.Arg917Ser;CSQ_HGVSg=6:g.30675605T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1073;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0346487;CSQ_gnomADe_AC=3862;CSQ_gnomADe_AN=241116;CSQ_gnomADe_AF=0.0160172;CSQ_gnomADe_Hom=78;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=0.044;CSQ_Mastermind_MMID3=MDC1:R917S;CSQ_CADD_PHRED=13.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1753:0,8,1,0,0,1,17,52,9,17,10,22:100:100 +6 30675830 . T A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=MDC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.2526A>T;CSQ_HGVSp=NP_055456.2:p.Arg842Ser;CSQ_HGVSg=6:g.30675830T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=292;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00942665;CSQ_gnomADe_AC=2177;CSQ_gnomADe_AN=241130;CSQ_gnomADe_AF=0.00902832;CSQ_gnomADe_Hom=22;CSQ_COSMICcMuts=COSV99059430&COSV99059430;CSQ_COSMICncMuts=COSV99059430&COSV99059430&COSV99059430;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=0.125;CSQ_Mastermind_MMID3=MDC1:R842S;CSQ_CADD_PHRED=14.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,6:119:0.05042:65:-97.7418:0.1849:2,1,0,1,1,1,17,39,9,20,12,22:74.047:100 +6 30680562 . G A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=MDC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.1157C>T;CSQ_HGVSp=NP_055456.2:p.Pro386Leu;CSQ_HGVSg=6:g.30680562G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1345;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0434656;CSQ_gnomADe_AC=7437;CSQ_gnomADe_AN=240964;CSQ_gnomADe_AF=0.0308635;CSQ_gnomADe_Hom=233;CSQ_COSMICcMuts=COSV64527848&COSV64527848;CSQ_COSMICncMuts=COSV64527848&COSV64527848&COSV64527848&COSV64527848&COSV64527848;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=0.022;CSQ_Mastermind_MMID3=MDC1:P386L;CSQ_CADD_PHRED=9.683 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,9:160:0.05625:65:-100:0.1753:2,2,0,1,0,4,21,51,13,28,15,32:100:100 +6 30680608 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=MDC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.1111G>A;CSQ_HGVSp=NP_055456.2:p.Glu371Lys;CSQ_HGVSg=6:g.30680608C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1344;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0434277;CSQ_gnomADe_AC=7430;CSQ_gnomADe_AN=240830;CSQ_gnomADe_AF=0.0308516;CSQ_gnomADe_Hom=233;CSQ_COSMICcMuts=COSV64523332&COSV64523332;CSQ_COSMICncMuts=COSV64523332&COSV64523332&COSV64523332&COSV64523332&COSV64523332;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=0.056;CSQ_Mastermind_MMID3=MDC1:E371K;CSQ_CADD_PHRED=16.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,7:163:0.04294:65:-94.422:0.1641:1,2,1,1,1,1,31,48,11,32,11,30:84.135:100 +6 30680720 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=MDC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.999G>A;CSQ_HGVSp=NP_055456.2:p.Ala333%3D;CSQ_HGVSg=6:g.30680720C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=108;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00348882;CSQ_gnomADe_AC=1264;CSQ_gnomADe_AN=241054;CSQ_gnomADe_AF=0.00524364;CSQ_gnomADe_Hom=7;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.247 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,7:164:0.04268:65:-100:0.1633:2,1,1,1,0,2,29,52,9,32,19,23:66.081:100 +6 30680721 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=MDC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/15;CSQ_INTRON=.;CSQ_Feature=NM_014641.3;CSQ_HGVSc=NM_014641.3:c.998C>T;CSQ_HGVSp=NP_055456.2:p.Ala333Val;CSQ_HGVSg=6:g.30680721G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=298;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.00962968;CSQ_gnomADe_AC=2272;CSQ_gnomADe_AN=241042;CSQ_gnomADe_AF=0.00942574;CSQ_gnomADe_Hom=23;CSQ_COSMICcMuts=COSV99059432&COSV99059432;CSQ_COSMICncMuts=COSV99059432&COSV99059432&COSV99059432&COSV99059432&COSV99059432;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.024;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.813 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,10:161:0.06211:65:-100:0.1615:2,5,0,2,0,1,29,51,9,32,19,21:100:100 +6 32168771 . G T 100 PASS DP=108;CSQ_Allele=T;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.4152C>A;CSQ_HGVSp=NP_004548.3:p.Val1384%3D;CSQ_HGVSg=6:g.32168771G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1259043;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3526;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.114325;CSQ_gnomADe_AC=20009;CSQ_gnomADe_AN=206456;CSQ_gnomADe_AF=0.0969165;CSQ_gnomADe_Hom=1209;CSQ_COSMICcMuts=COSV66678970;CSQ_COSMICncMuts=COSV66678970&COSV66678970;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:V1384V;CSQ_CADD_PHRED=5.666 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,5:108:0.0463:65:-48.4679:0.122:0,2,1,1,0,1,19,26,13,18,11,21:62.22:100 +6 32168932 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.4101G>A;CSQ_HGVSp=NP_004548.3:p.Thr1367%3D;CSQ_HGVSg=6:g.32168932C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=484;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.0156543;CSQ_gnomADe_AC=4373;CSQ_gnomADe_AN=240070;CSQ_gnomADe_AF=0.0182155;CSQ_gnomADe_Hom=85;CSQ_COSMICcMuts=COSV66682637;CSQ_COSMICncMuts=COSV66682637&COSV66682637;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:T1367T;CSQ_CADD_PHRED=0.444 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,9:116:0.07759:65:-100:0.1471:1,2,1,1,4,0,13,35,5,23,13,27:93.577:100 +6 32172065 . T G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.2967A>C;CSQ_HGVSp=NP_004548.3:p.Gly989%3D;CSQ_HGVSg=6:g.32172065T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1277124;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=28003;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.905367;CSQ_gnomADe_AC=220711;CSQ_gnomADe_AN=241064;CSQ_gnomADe_AF=0.91557;CSQ_gnomADe_Hom=101467;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:G989G;CSQ_CADD_PHRED=11.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,134:141:0.95035:65:-100:0.1557:22,46,12,23,7,24,23,49,13,25,7,24:100:100 +6 32184705 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/29;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.1861+17C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.32184705G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1223313;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=23662;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.764672;CSQ_gnomADe_AC=184229;CSQ_gnomADe_AN=241070;CSQ_gnomADe_AF=0.764214;CSQ_gnomADe_Hom=71651;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:G621int&NOTCH4:G621intd;CSQ_CADD_PHRED=2.474 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,55:112:0.49107:65:-100:0.145:12,15,4,10,1,13,17,36,9,22,5,23:100:100 +6 32188297 . G C 100 PASS DP=175;CSQ_Allele=C;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.1044C>G;CSQ_HGVSp=NP_004548.3:p.Gly348%3D;CSQ_HGVSg=6:g.32188297G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1222852;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8884;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.287769;CSQ_gnomADe_AC=74890;CSQ_gnomADe_AN=238670;CSQ_gnomADe_AF=0.313781;CSQ_gnomADe_Hom=12414;CSQ_COSMICcMuts=COSV66678383;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.11;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:G348G;CSQ_CADD_PHRED=5.723 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,28:175:0.16:65:-100:0.1463:3,10,1,4,5,5,27,68,11,20,15,34:100:100 +6 32188383 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.958A>G;CSQ_HGVSp=NP_004548.3:p.Thr320Ala;CSQ_HGVSg=6:g.32188383T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1297197;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12370;CSQ_gnomADg_AN=30790;CSQ_gnomADg_AF=0.401754;CSQ_gnomADe_AC=97403;CSQ_gnomADe_AN=242650;CSQ_gnomADe_AF=0.401414;CSQ_gnomADe_Hom=21043;CSQ_COSMICcMuts=COSV66678386;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.277;CSQ_Mastermind_MMID3=NOTCH4:T320A;CSQ_CADD_PHRED=0.082 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,38:152:0.25:65:-100:0.1059:7,14,0,4,2,11,25,63,7,19,9,29:100:100 +6 32188603 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.852G>A;CSQ_HGVSp=NP_004548.3:p.Gln284%3D;CSQ_HGVSg=6:g.32188603C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1279259;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8822;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.285983;CSQ_gnomADe_AC=75439;CSQ_gnomADe_AN=246120;CSQ_gnomADe_AF=0.306513;CSQ_gnomADe_Hom=12563;CSQ_COSMICcMuts=COSV66678390;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:Q284Q;CSQ_CADD_PHRED=1.091 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,27:159:0.16981:65:-100:0.0756:5,13,3,1,1,4,27,57,12,25,6,32:100:100 +6 32189032 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.522A>G;CSQ_HGVSp=NP_004548.3:p.Thr174%3D;CSQ_HGVSg=6:g.32189032T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1281290;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8936;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.289716;CSQ_gnomADe_AC=74226;CSQ_gnomADe_AN=238688;CSQ_gnomADe_AF=0.310975;CSQ_gnomADe_Hom=12363;CSQ_COSMICcMuts=COSV66678403;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:T174T;CSQ_CADD_PHRED=0.570 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,25:137:0.18248:65:-100:0.0927:2,10,2,6,2,3,23,46,13,26,4,25:100:100 +6 32190390 . T G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.349A>C;CSQ_HGVSp=NP_004548.3:p.Lys117Gln;CSQ_HGVSg=6:g.32190390T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1294880;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11094;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.360265;CSQ_gnomADe_AC=82535;CSQ_gnomADe_AN=234810;CSQ_gnomADe_AF=0.351497;CSQ_gnomADe_Hom=15010;CSQ_COSMICcMuts=COSV66678407;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=0.212;CSQ_Mastermind_MMID3=NOTCH4:K117Q;CSQ_CADD_PHRED=12.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,22:137:0.16058:65:-100:0.1218:4,6,4,3,2,3,24,45,14,28,11,15:100:100 +6 32190406 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.333T>C;CSQ_HGVSp=NP_004548.3:p.Gly111%3D;CSQ_HGVSg=6:g.32190406A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1293220;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11707;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.379457;CSQ_gnomADe_AC=89388;CSQ_gnomADe_AN=238408;CSQ_gnomADe_AF=0.374937;CSQ_gnomADe_Hom=17670;CSQ_COSMICcMuts=COSV66678412;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:G111G;CSQ_CADD_PHRED=0.674 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,25:141:0.17731:65:-100:0.1188:3,9,2,6,2,3,19,54,11,31,12,14:100:100 +6 32190484 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=NOTCH4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/30;CSQ_INTRON=.;CSQ_Feature=NM_004557.4;CSQ_HGVSc=NM_004557.4:c.255C>T;CSQ_HGVSp=NP_004548.3:p.Pro85%3D;CSQ_HGVSg=6:g.32190484G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1228635;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4902;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.158846;CSQ_gnomADe_AC=32253;CSQ_gnomADe_AN=239308;CSQ_gnomADe_AF=0.134776;CSQ_gnomADe_Hom=2979;CSQ_COSMICcMuts=COSV66679409;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH4:P85P;CSQ_CADD_PHRED=0.697 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,14:139:0.10072:65:-100:0.1472:1,3,3,2,1,4,13,51,20,24,9,22:100:100 +6 33287183 . T C 100 PASS DP=178;CSQ_Allele=C;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_001141969.2;CSQ_HGVSc=NM_001141969.2:c.1914A>G;CSQ_HGVSp=NP_001135441.1:p.Gln638%3D;CSQ_HGVSg=6:g.33287183T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1953;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0631303;CSQ_gnomADe_AC=6942;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.0282172;CSQ_gnomADe_Hom=358;CSQ_COSMICcMuts=COSV56468926&COSV56468926&COSV56468926;CSQ_COSMICncMuts=COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DAXX:Q563Q&DAXX:Q638Q&DAXX:Q650Q;CSQ_CADD_PHRED=2.298 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,7:178:0.03933:65:-100:0.1144:1,1,1,3,0,1,24,66,13,34,14,27:69.882:100 +6 33287183 . T C 100 PASS DP=178;CSQ_Allele=C;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_001141970.2;CSQ_HGVSc=NM_001141970.2:c.1950A>G;CSQ_HGVSp=NP_001135442.1:p.Gln650%3D;CSQ_HGVSg=6:g.33287183T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1953;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0631303;CSQ_gnomADe_AC=6942;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.0282172;CSQ_gnomADe_Hom=358;CSQ_COSMICcMuts=COSV56468926&COSV56468926&COSV56468926;CSQ_COSMICncMuts=COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DAXX:Q563Q&DAXX:Q638Q&DAXX:Q650Q;CSQ_CADD_PHRED=2.298 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,7:178:0.03933:65:-100:0.1144:1,1,1,3,0,1,24,66,13,34,14,27:69.882:100 +6 33287183 . T C 100 PASS DP=178;CSQ_Allele=C;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_001254717.2;CSQ_HGVSc=NM_001254717.2:c.1689A>G;CSQ_HGVSp=NP_001241646.1:p.Gln563%3D;CSQ_HGVSg=6:g.33287183T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1953;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0631303;CSQ_gnomADe_AC=6942;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.0282172;CSQ_gnomADe_Hom=358;CSQ_COSMICcMuts=COSV56468926&COSV56468926&COSV56468926;CSQ_COSMICncMuts=COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926&COSV56468926;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DAXX:Q563Q&DAXX:Q638Q&DAXX:Q650Q;CSQ_CADD_PHRED=2.298 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,7:178:0.03933:65:-100:0.1144:1,1,1,3,0,1,24,66,13,34,14,27:69.882:100 +6 33288271 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_001141969.2;CSQ_HGVSc=NM_001141969.2:c.1137T>C;CSQ_HGVSp=NP_001135441.1:p.Tyr379%3D;CSQ_HGVSg=6:g.33288271A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7610;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.24639;CSQ_gnomADe_AC=73597;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.299058;CSQ_gnomADe_Hom=11892;CSQ_COSMICcMuts=COSV56466529&COSV56466529&COSV56466529;CSQ_COSMICncMuts=COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DAXX:Y304Y&DAXX:Y379Y&DAXX:Y391Y;CSQ_CADD_PHRED=10.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,39:122:0.31967:65:-100:0.1223:7,13,3,8,3,5,17,48,7,22,9,19:100:100 +6 33288271 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_001141970.2;CSQ_HGVSc=NM_001141970.2:c.1173T>C;CSQ_HGVSp=NP_001135442.1:p.Tyr391%3D;CSQ_HGVSg=6:g.33288271A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7610;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.24639;CSQ_gnomADe_AC=73597;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.299058;CSQ_gnomADe_Hom=11892;CSQ_COSMICcMuts=COSV56466529&COSV56466529&COSV56466529;CSQ_COSMICncMuts=COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DAXX:Y304Y&DAXX:Y379Y&DAXX:Y391Y;CSQ_CADD_PHRED=10.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,39:122:0.31967:65:-100:0.1223:7,13,3,8,3,5,17,48,7,22,9,19:100:100 +6 33288271 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/7;CSQ_INTRON=.;CSQ_Feature=NM_001254717.2;CSQ_HGVSc=NM_001254717.2:c.912T>C;CSQ_HGVSp=NP_001241646.1:p.Tyr304%3D;CSQ_HGVSg=6:g.33288271A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7610;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.24639;CSQ_gnomADe_AC=73597;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.299058;CSQ_gnomADe_Hom=11892;CSQ_COSMICcMuts=COSV56466529&COSV56466529&COSV56466529;CSQ_COSMICncMuts=COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529&COSV56466529;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DAXX:Y304Y&DAXX:Y379Y&DAXX:Y391Y;CSQ_CADD_PHRED=10.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,39:122:0.31967:65:-100:0.1223:7,13,3,8,3,5,17,48,7,22,9,19:100:100 +6 33289057 . G T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_001141969.2;CSQ_HGVSc=NM_001141969.2:c.495C>A;CSQ_HGVSp=NP_001135441.1:p.Ser165%3D;CSQ_HGVSg=6:g.33289057G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56473369&COSV56473369&COSV56473369;CSQ_COSMICncMuts=COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.733 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,8:163:0.04908:65:-100:0.1466:1,3,2,0,0,2,23,59,20,26,10,25:98.233:100 +6 33289057 . G T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_001141970.2;CSQ_HGVSc=NM_001141970.2:c.531C>A;CSQ_HGVSp=NP_001135442.1:p.Ser177%3D;CSQ_HGVSg=6:g.33289057G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56473369&COSV56473369&COSV56473369;CSQ_COSMICncMuts=COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.733 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,8:163:0.04908:65:-100:0.1466:1,3,2,0,0,2,23,59,20,26,10,25:98.233:100 +6 33289057 . G T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=DAXX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_001254717.2;CSQ_HGVSc=NM_001254717.2:c.270C>A;CSQ_HGVSp=NP_001241646.1:p.Ser90%3D;CSQ_HGVSg=6:g.33289057G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56473369&COSV56473369&COSV56473369;CSQ_COSMICncMuts=COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369&COSV56473369;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.733 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,8:163:0.04908:65:-100:0.1466:1,3,2,0,0,2,23,59,20,26,10,25:98.233:100 +6 33290654 . T C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=DAXX;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_001141969.2;CSQ_HGVSc=NM_001141969.2:c.-68A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.33290654T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=243604;CSQ_gnomADe_AF=4.10502e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,5:83:0.06024:65:-99.3855:0.2523:1,1,1,1,1,0,10,29,10,17,7,10:67.912:100 +6 33290654 . T C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=DAXX;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_001141970.2;CSQ_HGVSc=NM_001141970.2:c.38A>G;CSQ_HGVSp=NP_001135442.1:p.Glu13Gly;CSQ_HGVSg=6:g.33290654T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=243604;CSQ_gnomADe_AF=4.10502e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DAXX:E13G;CSQ_CADD_PHRED=18.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,5:83:0.06024:65:-99.3855:0.2523:1,1,1,1,1,0,10,29,10,17,7,10:67.912:100 +6 33290654 . T C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=DAXX;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001254717.2;CSQ_HGVSc=NM_001254717.2:c.-34A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.33290654T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=243604;CSQ_gnomADe_AF=4.10502e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,5:83:0.06024:65:-99.3855:0.2523:1,1,1,1,1,0,10,29,10,17,7,10:67.912:100 +6 35423662 . A C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=FANCE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_021922.3;CSQ_HGVSc=NM_021922.3:c.387A>C;CSQ_HGVSp=NP_068741.1:p.Pro129%3D;CSQ_HGVSg=6:g.35423662A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=261435;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_E¬_specified¬_provided;CSQ_gnomADg_AC=22962;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.743347;CSQ_gnomADe_AC=177387;CSQ_gnomADe_AN=246026;CSQ_gnomADe_AF=0.721009;CSQ_gnomADe_Hom=64526;CSQ_COSMICcMuts=COSV57690669;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCE:P129P;CSQ_CADD_PHRED=1.716 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,101:148:0.68243:65:-100:0.1494:25,25,13,15,6,17,31,41,17,26,11,22:100:100 +6 35426175 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=FANCE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_021922.3;CSQ_HGVSc=NM_021922.3:c.1071C>T;CSQ_HGVSp=NP_068741.1:p.Leu357%3D;CSQ_HGVSg=6:g.35426175C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=261432;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_E¬_specified¬_provided;CSQ_gnomADg_AC=860;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0277832;CSQ_gnomADe_AC=9838;CSQ_gnomADe_AN=246258;CSQ_gnomADe_AF=0.03995;CSQ_gnomADe_Hom=357;CSQ_COSMICcMuts=COSV57689203;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.10;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCE:L357L;CSQ_CADD_PHRED=9.755 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,16:141:0.11348:65:-100:0.1132:2,7,3,2,1,1,18,52,15,19,16,21:100:100 +6 35427159 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=FANCE;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_021922.3;CSQ_HGVSc=NM_021922.3:c.1165T>C;CSQ_HGVSp=NP_068741.1:p.Ser389Pro;CSQ_HGVSg=6:g.35427159T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57689225;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.249;CSQ_Mastermind_MMID3=FANCE:S389P;CSQ_CADD_PHRED=23.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,22:145:0.15172:65:-100:0.1159:4,7,3,1,4,3,30,38,26,12,13,26:100:100 +6 36645696 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_000389.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=6:g.36645696A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14878;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.481613;CSQ_gnomADe_AC=52647;CSQ_gnomADe_AN=123476;CSQ_gnomADe_AF=0.426374;CSQ_gnomADe_Hom=11876;CSQ_COSMICcMuts=COSV55187098;CSQ_COSMICncMuts=COSV55187098&COSV55187098&COSV55187098&COSV55187098&COSV55187098&COSV55187098&COSV55187098;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN1A:5UTR&CDKN1A:5UTRint&CDKN1A:5UTRintd&CDKN1A:D28G&CDKN1A:G12int&CDKN1A:G12intd;CSQ_CADD_PHRED=0.194 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,84:138:0.6087:65:-100:0.1636:12,29,8,22,3,10,16,52,11,31,8,20:100:100 +6 36645696 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_001291549.3;CSQ_HGVSc=NM_001291549.3:c.83A>G;CSQ_HGVSp=NP_001278478.1:p.Asp28Gly;CSQ_HGVSg=6:g.36645696A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14878;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.481613;CSQ_gnomADe_AC=52647;CSQ_gnomADe_AN=123476;CSQ_gnomADe_AF=0.426374;CSQ_gnomADe_Hom=11876;CSQ_COSMICcMuts=COSV55187098;CSQ_COSMICncMuts=COSV55187098&COSV55187098&COSV55187098&COSV55187098&COSV55187098&COSV55187098&COSV55187098;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.170;CSQ_Mastermind_MMID3=CDKN1A:5UTR&CDKN1A:5UTRint&CDKN1A:5UTRintd&CDKN1A:D28G&CDKN1A:G12int&CDKN1A:G12intd;CSQ_CADD_PHRED=0.194 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,84:138:0.6087:65:-100:0.1636:12,29,8,22,3,10,16,52,11,31,8,20:100:100 +6 36648364 . T C 100 PASS DP=74;CSQ_Allele=C;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_000389.5;CSQ_HGVSc=NM_000389.5:c.-6+1789T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.36648364T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11417;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.371599;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55189247&COSV55189247&COSV55189247&COSV55189247;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN1A:5UTR&CDKN1A:5UTRint&CDKN1A:5UTRinta&CDKN1A:5UTRintd&CDKN1A:G12int&CDKN1A:G12inta&CDKN1A:G33int&CDKN1A:G33intd;CSQ_CADD_PHRED=15.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,34:74:0.45946:65:-100:0.2816:7,7,8,7,1,4,14,24,12,13,3,8:100:100 +6 36648364 . T C 100 PASS DP=74;CSQ_Allele=C;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001291549.3;CSQ_HGVSc=NM_001291549.3:c.97+2654T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.36648364T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11417;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.371599;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55189247&COSV55189247&COSV55189247&COSV55189247;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN1A:5UTR&CDKN1A:5UTRint&CDKN1A:5UTRinta&CDKN1A:5UTRintd&CDKN1A:G12int&CDKN1A:G12inta&CDKN1A:G33int&CDKN1A:G33intd;CSQ_CADD_PHRED=15.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,34:74:0.45946:65:-100:0.2816:7,7,8,7,1,4,14,24,12,13,3,8:100:100 +6 36650565 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_000389.5;CSQ_HGVSc=NM_000389.5:c.-5-1309G>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.36650565G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4655;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.150443;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN1A:5UTR&CDKN1A:5UTRint&CDKN1A:5UTRinta&CDKN1A:G12int&CDKN1A:G12inta&CDKN1A:G33int&CDKN1A:G33inta;CSQ_CADD_PHRED=14.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,14:128:0.10938:65:-100:0.2335:2,4,0,5,1,2,21,51,9,17,11,19:100:100 +6 36650565 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001291549.3;CSQ_HGVSc=NM_001291549.3:c.98-1309G>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.36650565G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4655;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.150443;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN1A:5UTR&CDKN1A:5UTRint&CDKN1A:5UTRinta&CDKN1A:G12int&CDKN1A:G12inta&CDKN1A:G33int&CDKN1A:G33inta;CSQ_CADD_PHRED=14.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,14:128:0.10938:65:-100:0.2335:2,4,0,5,1,2,21,51,9,17,11,19:100:100 +6 36650578 . G T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_000389.5;CSQ_HGVSc=NM_000389.5:c.-5-1296G>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.36650578G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=354;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0114297;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,8:134:0.0597:65:-100:0.2071:2,3,1,0,1,1,25,48,12,19,9,21:100:100 +6 36650578 . G T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_001291549.3;CSQ_HGVSc=NM_001291549.3:c.98-1296G>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.36650578G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=354;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0114297;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,8:134:0.0597:65:-100:0.2071:2,3,1,0,1,1,25,48,12,19,9,21:100:100 +6 36651971 . C A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_000389.5;CSQ_HGVSc=NM_000389.5:c.93C>A;CSQ_HGVSp=NP_000380.1:p.Ser31Arg;CSQ_HGVSg=6:g.36651971C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=17565;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=CIP1/WAF1_TUMOR-ASSOCIATED_POLYMORPHISM_1;CSQ_gnomADg_AC=4502;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.1458;CSQ_gnomADe_AC=37219;CSQ_gnomADe_AN=244236;CSQ_gnomADe_AF=0.152389;CSQ_gnomADe_Hom=5396;CSQ_COSMICcMuts=COSV55187247&COSV55187247&COSV55187247&COSV55187247;CSQ_COSMICncMuts=COSV55187247;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=0.244;CSQ_Mastermind_MMID3=CDKN1A:S31R&CDKN1A:S44R&CDKN1A:S65R;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,20:163:0.1227:65:-100:0.1283:3,7,4,1,1,4,25,60,14,27,18,19:100:100 +6 36651971 . C A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=CDKN1A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_001291549.3;CSQ_HGVSc=NM_001291549.3:c.195C>A;CSQ_HGVSp=NP_001278478.1:p.Ser65Arg;CSQ_HGVSg=6:g.36651971C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=17565;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=CIP1/WAF1_TUMOR-ASSOCIATED_POLYMORPHISM_1;CSQ_gnomADg_AC=4502;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.1458;CSQ_gnomADe_AC=37219;CSQ_gnomADe_AN=244236;CSQ_gnomADe_AF=0.152389;CSQ_gnomADe_Hom=5396;CSQ_COSMICcMuts=COSV55187247&COSV55187247&COSV55187247&COSV55187247;CSQ_COSMICncMuts=COSV55187247;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=0.244;CSQ_Mastermind_MMID3=CDKN1A:S31R&CDKN1A:S44R&CDKN1A:S65R;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,20:163:0.1227:65:-100:0.1283:3,7,4,1,1,4,25,60,14,27,18,19:100:100 +6 41903782 . A C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=CCND3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001136125.3;CSQ_HGVSc=NM_001136125.3:c.559T>G;CSQ_HGVSp=NP_001129597.1:p.Ser187Ala;CSQ_HGVSg=6:g.41903782A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19057;CSQ_gnomADg_AN=30782;CSQ_gnomADg_AF=0.619096;CSQ_gnomADe_AC=131230;CSQ_gnomADe_AN=244192;CSQ_gnomADe_AF=0.537405;CSQ_gnomADe_Hom=36046;CSQ_COSMICcMuts=COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647;CSQ_COSMICncMuts=COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=CCND3:S178A&CCND3:S187A&CCND3:S209A&CCND3:S259A&CCND3:S63A;CSQ_CADD_PHRED=7.886 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,72:140:0.51429:65:-100:0.1083:17,24,5,10,3,13,26,46,7,28,7,26:100:100 +6 41903782 . A C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=CCND3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_001760.5;CSQ_HGVSc=NM_001760.5:c.775T>G;CSQ_HGVSp=NP_001751.1:p.Ser259Ala;CSQ_HGVSg=6:g.41903782A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19057;CSQ_gnomADg_AN=30782;CSQ_gnomADg_AF=0.619096;CSQ_gnomADe_AC=131230;CSQ_gnomADe_AN=244192;CSQ_gnomADe_AF=0.537405;CSQ_gnomADe_Hom=36046;CSQ_COSMICcMuts=COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647;CSQ_COSMICncMuts=COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647&COSV57827647;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=CCND3:S178A&CCND3:S187A&CCND3:S209A&CCND3:S259A&CCND3:S63A;CSQ_CADD_PHRED=7.886 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,72:140:0.51429:65:-100:0.1083:17,24,5,10,3,13,26,46,7,28,7,26:100:100 +6 41906277 . G A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=CCND3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/3;CSQ_Feature=NM_001136125.3;CSQ_HGVSc=NM_001136125.3:c.199-1145C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.41906277G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.068 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-97.5933:0.1465:0,3,0,1,1,1,21,44,13,21,14,21:68.919:100 +6 41906277 . G A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=CCND3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001760.5;CSQ_HGVSc=NM_001760.5:c.415-1145C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.41906277G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.068 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-97.5933:0.1465:0,3,0,1,1,1,21,44,13,21,14,21:68.919:100 +6 41906364 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=CCND3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/3;CSQ_Feature=NM_001136125.3;CSQ_HGVSc=NM_001136125.3:c.199-1232A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.41906364T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=753;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.0243516;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.128 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-100:0.1529:1,3,2,1,1,1,21,38,11,29,14,20:100:100 +6 41906364 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=CCND3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_001760.5;CSQ_HGVSc=NM_001760.5:c.415-1232A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.41906364T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=753;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.0243516;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.128 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-100:0.1529:1,3,2,1,1,1,21,38,11,29,14,20:100:100 +6 89793894 . G C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=PNRC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_006813.3;CSQ_HGVSc=NM_006813.3:c.963G>C;CSQ_HGVSp=NP_006804.1:p.Thr321%3D;CSQ_HGVSg=6:g.89793894G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6915;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.223685;CSQ_gnomADe_AC=55651;CSQ_gnomADe_AN=220898;CSQ_gnomADe_AF=0.251931;CSQ_gnomADe_Hom=9316;CSQ_COSMICcMuts=COSV60138890&COSV60138890&COSV60138890;CSQ_COSMICncMuts=COSV60138890;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PNRC1:T321T;CSQ_CADD_PHRED=10.13 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,44:103:0.42718:65:-100:0.1417:4,18,1,13,4,4,18,40,5,20,6,14:100:100 +6 89795288 . G C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=PNRC1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_006813.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=6:g.89795288G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12691;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.410606;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.337 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,55:118:0.4661:65:-100:0.1387:6,18,7,5,7,12,18,33,11,16,15,25:100:100 +6 89795303 . A G 100 PASS DP=114;CSQ_Allele=G;CSQ_SYMBOL=PNRC1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_006813.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=6:g.89795303A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5490;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.177348;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.399 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,10:114:0.08772:65:-100:0.1493:2,4,0,0,0,4,18,32,10,13,12,29:100:100 +6 93967851 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=EPHA7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/17;CSQ_INTRON=.;CSQ_Feature=NM_001288629.2;CSQ_HGVSc=NM_001288629.2:c.2061G>A;CSQ_HGVSp=NP_001275558.1:p.Pro687%3D;CSQ_HGVSg=6:g.93967851C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1331194;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=21046;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.682337;CSQ_gnomADe_AC=177236;CSQ_gnomADe_AN=245824;CSQ_gnomADe_AF=0.720987;CSQ_gnomADe_Hom=64333;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA7:P616P&EPHA7:P683P&EPHA7:P687P&EPHA7:P688P&EPHA7:P692P;CSQ_CADD_PHRED=9.724 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,57:99:0.57576:65:-100:0.2143:8,19,2,13,8,7,12,33,9,17,12,16:100:100 +6 93967851 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=EPHA7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/17;CSQ_INTRON=.;CSQ_Feature=NM_004440.4;CSQ_HGVSc=NM_004440.4:c.2076G>A;CSQ_HGVSp=NP_004431.1:p.Pro692%3D;CSQ_HGVSg=6:g.93967851C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1331194;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=21046;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.682337;CSQ_gnomADe_AC=177236;CSQ_gnomADe_AN=245824;CSQ_gnomADe_AF=0.720987;CSQ_gnomADe_Hom=64333;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA7:P616P&EPHA7:P683P&EPHA7:P687P&EPHA7:P688P&EPHA7:P692P;CSQ_CADD_PHRED=9.724 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,57:99:0.57576:65:-100:0.2143:8,19,2,13,8,7,12,33,9,17,12,16:100:100 +6 93982124 . A G 100 PASS DP=108;CSQ_Allele=G;CSQ_SYMBOL=EPHA7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/17;CSQ_INTRON=.;CSQ_Feature=NM_001288629.2;CSQ_HGVSc=NM_001288629.2:c.1341T>C;CSQ_HGVSp=NP_001275558.1:p.Ser447%3D;CSQ_HGVSg=6:g.93982124A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27528;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.891162;CSQ_gnomADe_AC=213077;CSQ_gnomADe_AN=245488;CSQ_gnomADe_AF=0.867973;CSQ_gnomADe_Hom=93060;CSQ_COSMICcMuts=COSV65194705;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA7:S371S&EPHA7:S447S;CSQ_CADD_PHRED=11.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:23,85:108:0.78704:65:-100:0.129:10,33,5,19,5,13,15,42,6,23,7,15:100:100 +6 93982124 . A G 100 PASS DP=108;CSQ_Allele=G;CSQ_SYMBOL=EPHA7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/17;CSQ_INTRON=.;CSQ_Feature=NM_004440.4;CSQ_HGVSc=NM_004440.4:c.1341T>C;CSQ_HGVSp=NP_004431.1:p.Ser447%3D;CSQ_HGVSg=6:g.93982124A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27528;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.891162;CSQ_gnomADe_AC=213077;CSQ_gnomADe_AN=245488;CSQ_gnomADe_AF=0.867973;CSQ_gnomADe_Hom=93060;CSQ_COSMICcMuts=COSV65194705;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA7:S371S&EPHA7:S447S;CSQ_CADD_PHRED=11.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:23,85:108:0.78704:65:-100:0.129:10,33,5,19,5,13,15,42,6,23,7,15:100:100 +6 94067981 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=EPHA7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_001288629.2;CSQ_HGVSc=NM_001288629.2:c.981G>A;CSQ_HGVSp=NP_001275558.1:p.Ala327%3D;CSQ_HGVSg=6:g.94067981C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20361;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.65906;CSQ_gnomADe_AC=152084;CSQ_gnomADe_AN=241854;CSQ_gnomADe_AF=0.628826;CSQ_gnomADe_Hom=49330;CSQ_COSMICcMuts=COSV65179555;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA7:A251A&EPHA7:A327A;CSQ_CADD_PHRED=3.803 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,57:99:0.57576:65:-100:0.1466:8,21,3,14,4,7,18,29,9,23,8,12:100:100 +6 94067981 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=EPHA7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_004440.4;CSQ_HGVSc=NM_004440.4:c.981G>A;CSQ_HGVSp=NP_004431.1:p.Ala327%3D;CSQ_HGVSg=6:g.94067981C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20361;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.65906;CSQ_gnomADe_AC=152084;CSQ_gnomADe_AN=241854;CSQ_gnomADe_AF=0.628826;CSQ_gnomADe_Hom=49330;CSQ_COSMICcMuts=COSV65179555;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EPHA7:A251A&EPHA7:A327A;CSQ_CADD_PHRED=3.803 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,57:99:0.57576:65:-100:0.1466:8,21,3,14,4,7,18,29,9,23,8,12:100:100 +6 94120219 . G A 100 PASS DP=91;CSQ_Allele=A;CSQ_SYMBOL=EPHA7;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/17;CSQ_INTRON=.;CSQ_Feature=NM_001288629.2;CSQ_HGVSc=NM_001288629.2:c.832C>T;CSQ_HGVSp=NP_001275558.1:p.Pro278Ser;CSQ_HGVSg=6:g.94120219G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1239265;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1229;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0397041;CSQ_gnomADe_AC=12794;CSQ_gnomADe_AN=244022;CSQ_gnomADe_AF=0.0524297;CSQ_gnomADe_Hom=584;CSQ_COSMICcMuts=COSV65168689&COSV65168689;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.082;CSQ_Mastermind_MMID3=EPHA7:P202S&EPHA7:P202srd&EPHA7:P278S&EPHA7:P278srd&EPHA7:R278C;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,11:91:0.12088:65:-100:0.1078:0,3,1,2,3,2,11,35,8,9,15,13:100:100 +6 94120219 . G A 100 PASS DP=91;CSQ_Allele=A;CSQ_SYMBOL=EPHA7;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/17;CSQ_INTRON=.;CSQ_Feature=NM_004440.4;CSQ_HGVSc=NM_004440.4:c.832C>T;CSQ_HGVSp=NP_004431.1:p.Pro278Ser;CSQ_HGVSg=6:g.94120219G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1239265;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1229;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0397041;CSQ_gnomADe_AC=12794;CSQ_gnomADe_AN=244022;CSQ_gnomADe_AF=0.0524297;CSQ_gnomADe_Hom=584;CSQ_COSMICcMuts=COSV65168689&COSV65168689;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.082;CSQ_Mastermind_MMID3=EPHA7:P202S&EPHA7:P202srd&EPHA7:P278S&EPHA7:P278srd&EPHA7:R278C;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,11:91:0.12088:65:-100:0.1078:0,3,1,2,3,2,11,35,8,9,15,13:100:100 +6 94120639 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=EPHA7;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/17;CSQ_INTRON=.;CSQ_Feature=NM_001288629.2;CSQ_HGVSc=NM_001288629.2:c.412A>G;CSQ_HGVSp=NP_001275558.1:p.Ile138Val;CSQ_HGVSg=6:g.94120639T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1222;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0394932;CSQ_gnomADe_AC=12886;CSQ_gnomADe_AN=245972;CSQ_gnomADe_AF=0.0523881;CSQ_gnomADe_Hom=589;CSQ_COSMICcMuts=COSV65168696&COSV65168696;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.086;CSQ_Mastermind_MMID3=EPHA7:I138V&EPHA7:I62V;CSQ_CADD_PHRED=15.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,16:135:0.11852:65:-100:0.1234:6,4,0,3,0,3,25,43,13,26,5,23:100:100 +6 94120639 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=EPHA7;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/17;CSQ_INTRON=.;CSQ_Feature=NM_004440.4;CSQ_HGVSc=NM_004440.4:c.412A>G;CSQ_HGVSp=NP_004431.1:p.Ile138Val;CSQ_HGVSg=6:g.94120639T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1222;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0394932;CSQ_gnomADe_AC=12886;CSQ_gnomADe_AN=245972;CSQ_gnomADe_AF=0.0523881;CSQ_gnomADe_Hom=589;CSQ_COSMICcMuts=COSV65168696&COSV65168696;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.086;CSQ_Mastermind_MMID3=EPHA7:I138V&EPHA7:I62V;CSQ_CADD_PHRED=15.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,16:135:0.11852:65:-100:0.1234:6,4,0,3,0,3,25,43,13,26,5,23:100:100 +6 106536253 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=PRDM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_001198.4;CSQ_HGVSc=NM_001198.4:c.220G>A;CSQ_HGVSp=NP_001189.2:p.Gly74Ser;CSQ_HGVSg=6:g.106536253G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135074;CSQ_ClinVar_CLNSIG=not_provided;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=1328;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0429357;CSQ_gnomADe_AC=9247;CSQ_gnomADe_AN=246270;CSQ_gnomADe_AF=0.0375482;CSQ_gnomADe_Hom=243;CSQ_COSMICcMuts=COSV64850169&COSV64850169;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.054;CSQ_Mastermind_MMID3=PRDM1:G74S;CSQ_CADD_PHRED=11.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,9:165:0.05455:65:-100:0.1361:0,7,1,0,1,0,17,60,13,26,18,31:91.752:100 +6 106547372 . C G 100 PASS DP=188;CSQ_Allele=G;CSQ_SYMBOL=PRDM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/7;CSQ_INTRON=.;CSQ_Feature=NM_001198.4;CSQ_HGVSc=NM_001198.4:c.609C>G;CSQ_HGVSp=NP_001189.2:p.Asp203Glu;CSQ_HGVSg=6:g.106547372C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135076;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=5127;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.165708;CSQ_gnomADe_AC=40165;CSQ_gnomADe_AN=246176;CSQ_gnomADe_AF=0.163156;CSQ_gnomADe_Hom=3523;CSQ_COSMICcMuts=COSV64844571&COSV64844571&COSV64844571;CSQ_COSMICncMuts=COSV64844571&COSV64844571&COSV64844571;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.418;CSQ_Mastermind_MMID3=PRDM1:D203E&PRDM1:D69E;CSQ_CADD_PHRED=18.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:167,21:188:0.1117:65:-100:0.1532:4,7,1,2,2,5,29,64,21,30,14,30:100:100 +6 106547372 . C G 100 PASS DP=188;CSQ_Allele=G;CSQ_SYMBOL=PRDM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_182907.3;CSQ_HGVSc=NM_182907.3:c.207C>G;CSQ_HGVSp=NP_878911.1:p.Asp69Glu;CSQ_HGVSg=6:g.106547372C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135076;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=5127;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.165708;CSQ_gnomADe_AC=40165;CSQ_gnomADe_AN=246176;CSQ_gnomADe_AF=0.163156;CSQ_gnomADe_Hom=3523;CSQ_COSMICcMuts=COSV64844571&COSV64844571&COSV64844571;CSQ_COSMICncMuts=COSV64844571&COSV64844571&COSV64844571;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.418;CSQ_Mastermind_MMID3=PRDM1:D203E&PRDM1:D69E;CSQ_CADD_PHRED=18.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:167,21:188:0.1117:65:-100:0.1532:4,7,1,2,2,5,29,64,21,30,14,30:100:100 +6 106552892 . G C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=PRDM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_001198.4;CSQ_HGVSc=NM_001198.4:c.857G>C;CSQ_HGVSp=NP_001189.2:p.Arg286Pro;CSQ_HGVSg=6:g.106552892G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135085;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=473;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0152896;CSQ_gnomADe_AC=2147;CSQ_gnomADe_AN=246226;CSQ_gnomADe_AF=0.00871963;CSQ_gnomADe_Hom=38;CSQ_COSMICcMuts=COSV64846428&COSV64846428&COSV64846428;CSQ_COSMICncMuts=COSV64846428;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.145;CSQ_Mastermind_MMID3=PRDM1:R152P&PRDM1:R286P;CSQ_CADD_PHRED=12.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,14:145:0.09655:65:-100:0.1761:1,3,2,2,2,4,17,44,7,27,18,32:100:100 +6 106552892 . G C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=PRDM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/5;CSQ_INTRON=.;CSQ_Feature=NM_182907.3;CSQ_HGVSc=NM_182907.3:c.455G>C;CSQ_HGVSp=NP_878911.1:p.Arg152Pro;CSQ_HGVSg=6:g.106552892G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135085;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=473;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0152896;CSQ_gnomADe_AC=2147;CSQ_gnomADe_AN=246226;CSQ_gnomADe_AF=0.00871963;CSQ_gnomADe_Hom=38;CSQ_COSMICcMuts=COSV64846428&COSV64846428&COSV64846428;CSQ_COSMICncMuts=COSV64846428;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.145;CSQ_Mastermind_MMID3=PRDM1:R152P&PRDM1:R286P;CSQ_CADD_PHRED=12.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,14:145:0.09655:65:-100:0.1761:1,3,2,2,2,4,17,44,7,27,18,32:100:100 +6 106555025 . G A 100 PASS DP=174;CSQ_Allele=A;CSQ_SYMBOL=PRDM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001198.4;CSQ_HGVSc=NM_001198.4:c.2142G>A;CSQ_HGVSp=NP_001189.2:p.Pro714%3D;CSQ_HGVSg=6:g.106555025G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2326;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0751195;CSQ_gnomADe_AC=23690;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.0962163;CSQ_gnomADe_Hom=1431;CSQ_COSMICcMuts=COSV64845040&COSV64845040&COSV64845040;CSQ_COSMICncMuts=COSV64845040;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRDM1:P580P&PRDM1:P714P;CSQ_CADD_PHRED=0.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,27:174:0.15517:65:-100:0.1122:5,8,2,5,2,5,26,59,21,35,13,20:100:100 +6 106555025 . G A 100 PASS DP=174;CSQ_Allele=A;CSQ_SYMBOL=PRDM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_182907.3;CSQ_HGVSc=NM_182907.3:c.1740G>A;CSQ_HGVSp=NP_878911.1:p.Pro580%3D;CSQ_HGVSg=6:g.106555025G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2326;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0751195;CSQ_gnomADe_AC=23690;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.0962163;CSQ_gnomADe_Hom=1431;CSQ_COSMICcMuts=COSV64845040&COSV64845040&COSV64845040;CSQ_COSMICncMuts=COSV64845040;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRDM1:P580P&PRDM1:P714P;CSQ_CADD_PHRED=0.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,27:174:0.15517:65:-100:0.1122:5,8,2,5,2,5,26,59,21,35,13,20:100:100 +6 112382217 . T C 100 PASS DP=117;CSQ_Allele=C;CSQ_SYMBOL=WISP3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_198239.2;CSQ_HGVSc=NM_198239.2:c.72T>C;CSQ_HGVSp=NP_937882.2:p.Thr24%3D;CSQ_HGVSg=6:g.112382217T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=355056;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Progressive_pseudorheumatoid_dysplasia¬_provided;CSQ_gnomADg_AC=1266;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0409047;CSQ_gnomADe_AC=2616;CSQ_gnomADe_AN=245120;CSQ_gnomADe_AF=0.0106723;CSQ_gnomADe_Hom=166;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.125 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,11:117:0.09402:65:-99.2064:0.1643:2,4,0,4,0,1,16,42,8,20,11,20:100:100 +6 112382313 . G T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=WISP3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_198239.2;CSQ_HGVSc=NM_198239.2:c.168G>T;CSQ_HGVSp=NP_937882.2:p.Gln56His;CSQ_HGVSg=6:g.112382313G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=355060;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Progressive_pseudorheumatoid_dysplasia¬_provided;CSQ_gnomADg_AC=9765;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.316368;CSQ_gnomADe_AC=62743;CSQ_gnomADe_AN=246066;CSQ_gnomADe_AF=0.254984;CSQ_gnomADe_Hom=8885;CSQ_COSMICcMuts=COSV57889411&COSV57889411&COSV57889411&COSV57889411&COSV57889411;CSQ_COSMICncMuts=COSV57889411;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.039;CSQ_Mastermind_MMID3=CCN6:Q56H&CCN6:Q74H;CSQ_CADD_PHRED=0.048 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,81:160:0.50625:65:-100:0.1061:15,26,12,9,6,13,27,54,20,19,14,26:100:100 +6 112390613 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=WISP3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_198239.2;CSQ_HGVSc=NM_198239.2:c.855C>T;CSQ_HGVSp=NP_937882.2:p.Cys285%3D;CSQ_HGVSg=6:g.112390613C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245790;CSQ_gnomADe_AF=4.06851e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV57888835&COSV57888835&COSV57888835&COSV57888835&COSV57888835&COSV57888835;CSQ_COSMICncMuts=COSV57888835&COSV57888835&COSV57888835&COSV57888835;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.711 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,11:134:0.08209:65:-100:0.0822:1,2,1,3,2,2,14,46,20,22,11,21:100:100 +6 112390777 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=WISP3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_198239.2;CSQ_HGVSc=NM_198239.2:c.1019A>G;CSQ_HGVSp=NP_937882.2:p.Asn340Ser;CSQ_HGVSg=6:g.112390777A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=0.204;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.05 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,16:116:0.13793:65:-100:0.1773:2,4,1,5,2,2,22,40,12,18,6,18:100:100 +6 117622184 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=42/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.6686C>G;CSQ_HGVSp=NP_002935.2:p.Ser2229Cys;CSQ_HGVSg=6:g.117622184G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6241;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.202105;CSQ_gnomADe_AC=46895;CSQ_gnomADe_AN=234634;CSQ_gnomADe_AF=0.199864;CSQ_gnomADe_Hom=5103;CSQ_COSMICcMuts=COSV63850786&COSV63850786;CSQ_COSMICncMuts=COSV63850786&COSV63850786;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=0.107;CSQ_Mastermind_MMID3=ROS1:S2223C&ROS1:S2225C&ROS1:S2229C;CSQ_CADD_PHRED=12.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,17:122:0.13934:65:-100:0.1223:3,5,3,2,2,2,12,43,13,20,12,22:100:100 +6 117622188 . T G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=42/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.6682A>C;CSQ_HGVSp=NP_002935.2:p.Lys2228Gln;CSQ_HGVSg=6:g.117622188T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6245;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.202117;CSQ_gnomADe_AC=47749;CSQ_gnomADe_AN=237288;CSQ_gnomADe_AF=0.201228;CSQ_gnomADe_Hom=5246;CSQ_COSMICcMuts=COSV63850793&COSV63850793;CSQ_COSMICncMuts=COSV63850793&COSV63850793;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.065;CSQ_Mastermind_MMID3=ROS1:K2222Q&ROS1:K2224Q&ROS1:K2228Q;CSQ_CADD_PHRED=15.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,17:120:0.14167:65:-100:0.1241:3,5,3,2,2,2,12,41,14,19,13,21:100:100 +6 117622233 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=42/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.6637G>A;CSQ_HGVSp=NP_002935.2:p.Asp2213Asn;CSQ_HGVSg=6:g.117622233C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6221;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.201288;CSQ_gnomADe_AC=48693;CSQ_gnomADe_AN=239184;CSQ_gnomADe_AF=0.20358;CSQ_gnomADe_Hom=5456;CSQ_COSMICcMuts=COSV63850799&COSV63850799;CSQ_COSMICncMuts=COSV63850799&COSV63850799;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.156;CSQ_Mastermind_MMID3=ROS1:D2207N&ROS1:D2209N&ROS1:D2213N;CSQ_CADD_PHRED=23.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,14:119:0.11765:65:-100:0.1678:3,6,0,2,0,3,16,40,11,14,11,27:100:100 +6 117631431 . T G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=40/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.6247A>C;CSQ_HGVSp=NP_002935.2:p.Arg2083%3D;CSQ_HGVSg=6:g.117631431T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3843;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.12453;CSQ_gnomADe_AC=28645;CSQ_gnomADe_AN=245174;CSQ_gnomADe_AF=0.116835;CSQ_gnomADe_Hom=1844;CSQ_COSMICcMuts=COSV63850804&COSV63850804;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:R2077R&ROS1:R2079R&ROS1:R2083R;CSQ_CADD_PHRED=11.71 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,27:129:0.2093:65:-100:0.1224:4,6,5,6,2,4,19,35,14,34,9,18:100:100 +6 117639620 . G T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=36/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5941-205C>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117639620G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2774;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.0897096;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104423542&COSV104423542;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.715 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,7:129:0.05426:65:-47.0761:0.1103:1,2,0,3,0,1,15,39,14,30,6,25:71.395:100 +6 117639788 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=36/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5941-373A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117639788T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2765;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0893723;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.757 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,10:121:0.08264:65:-100:0.1295:4,1,0,1,1,3,15,41,7,23,11,24:100:100 +6 117639820 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=36/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5941-405T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117639820A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4944;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.159845;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.558 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,21:121:0.17355:65:-100:0.1295:4,9,2,1,1,4,16,40,10,21,11,23:100:100 +6 117640002 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=36/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5941-587G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117640002C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11063;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.358374;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.803 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,50:143:0.34965:65:-100:0.1386:3,22,6,8,3,8,21,49,18,18,10,27:100:100 +6 117641246 . C A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=35/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5778-53G>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117641246C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2774;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.0897851;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853919&COSV63853919;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:H1920int&ROS1:H1920inta&ROS1:H1922int&ROS1:H1922inta&ROS1:H1926int&ROS1:H1926inta;CSQ_CADD_PHRED=1.306 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,11:149:0.07383:65:-100:0.0688:3,3,1,0,1,3,32,51,13,16,15,22:100:100 +6 117641474 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=35/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5778-281C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117641474G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2782;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.0900207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63861467&COSV63861467;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:H1926int&ROS1:H1926inta;CSQ_CADD_PHRED=0.363 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,5:120:0.04167:65:-97.4473:0.1608:1,1,0,1,0,2,22,41,4,17,9,27:75.876:100 +6 117641931 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=35/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5777+491G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117641931C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=583;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0188454;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.043 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,11:126:0.0873:65:-100:0.125:2,1,1,1,2,4,17,46,7,25,10,21:100:100 +6 117641952 . T A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=35/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5777+470A>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117641952T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.375 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,7:121:0.05785:65:-46.7393:0.1597:2,2,0,1,0,2,18,42,7,29,7,18:100:100 +6 117642070 . TA T 100 PASS DP=131;CSQ_Allele=-;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=35/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5777+351del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117642072del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2773;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0897179;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,8:131:0.06107:65:-100:0:1,3,0,3,0,1,20,46,9,24,14,18:79.21:100 +6 117643188 . AT A 100 PASS DP=107;CSQ_Allele=-;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=34/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5642-632del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117643195del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,6:107:0.05607:65:-98.5248:0:2,1,1,0,1,1,13,36,7,17,12,22:76.495:100 +6 117643433 . T C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=34/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5642-876A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117643433T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3360;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.108696;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853923&COSV63853923;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:V1875int&ROS1:V1875inta&ROS1:V1877int&ROS1:V1877inta&ROS1:V1881int&ROS1:V1881inta;CSQ_CADD_PHRED=4.045 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,8:109:0.07339:65:-98.8589:0.1926:2,2,1,0,0,3,24,36,8,15,6,20:100:100 +6 117643588 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=34/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5642-1031T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117643588A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.942 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,8:145:0.05517:65:-100:0.0994:3,2,2,1,0,0,22,48,16,18,18,23:100:100 +6 117643897 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=34/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5642-1340T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117643897A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6453;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.208794;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63860856&COSV63860856;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.525 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,11:138:0.07971:65:-100:0.1481:3,1,2,1,2,2,15,57,12,22,9,23:100:100 +6 117644132 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=34/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5641+1363G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117644132C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2760;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0892626;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853934&COSV63853934;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:V1875int&ROS1:V1875intd&ROS1:V1877int&ROS1:V1877intd&ROS1:V1881int&ROS1:V1881intd;CSQ_CADD_PHRED=9.321 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,8:121:0.06612:65:-100:0.1232:2,1,1,2,1,1,15,50,5,25,8,18:91.183:100 +6 117644866 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=34/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5641+629A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117644866T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4872;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.157649;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63851643&COSV63851643;CSQ_COSMICncMuts=COSV63851643;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:V1875int&ROS1:V1875intd&ROS1:V1877int&ROS1:V1877intd&ROS1:V1881int&ROS1:V1881intd;CSQ_CADD_PHRED=9.196 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,6:119:0.05042:65:-46.8709:0.1185:1,2,0,2,0,1,16,44,10,22,9,18:74.124:100 +6 117645041 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=34/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5641+454G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117645041C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3356;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.108637;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853941&COSV63853941;CSQ_COSMICncMuts=COSV63853941;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:V1875int&ROS1:V1875intd&ROS1:V1877int&ROS1:V1877intd&ROS1:V1881int&ROS1:V1881intd;CSQ_CADD_PHRED=15.13 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,9:129:0.06977:65:-100:0.1887:1,3,0,2,1,2,12,45,16,24,7,25:100:100 +6 117645652 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=33/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5558-74G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117645652C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.324 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,6:132:0.04545:65:-95.2806:0.1646:1,1,1,1,1,1,21,45,11,19,7,29:73.999:100 +6 117645662 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=33/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5558-84A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117645662T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=400;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0129249;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63852967&COSV63852967;CSQ_COSMICncMuts=COSV63852967;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:D1847int&ROS1:D1847inta&ROS1:D1849int&ROS1:D1849inta&ROS1:D1853int&ROS1:D1853inta;CSQ_CADD_PHRED=1.516 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,5:144:0.03472:65:-96.4889:0.1529:0,2,0,0,0,3,25,42,13,22,12,30:62.612:100 +6 117646289 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=33/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5558-711T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117646289A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2750;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.0890198;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853946&COSV63853946;CSQ_COSMICncMuts=COSV63853946;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:D1847int&ROS1:D1847inta&ROS1:D1849int&ROS1:D1849inta&ROS1:D1853int&ROS1:D1853inta;CSQ_CADD_PHRED=1.151 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,8:141:0.05674:65:-100:0.0844:2,3,0,1,2,0,26,41,13,25,13,23:100:100 +6 117646772 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=33/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5557+615A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117646772T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4721;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.15311;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63851645&COSV63851645;CSQ_COSMICncMuts=COSV63851645;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:D1847int&ROS1:D1847intd&ROS1:D1849int&ROS1:D1849intd&ROS1:D1853int&ROS1:D1853intd;CSQ_CADD_PHRED=0.628 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,5:122:0.04098:65:-46.8709:0.1159:2,1,0,1,0,1,22,32,7,23,8,30:60.3:100 +6 117647359 . T C 100 PASS DP=110;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=33/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5557+28A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117647359T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=562;CSQ_gnomADg_AN=29428;CSQ_gnomADg_AF=0.0190975;CSQ_gnomADe_AC=1512;CSQ_gnomADe_AN=197298;CSQ_gnomADe_AF=0.00766353;CSQ_gnomADe_Hom=34;CSQ_COSMICcMuts=COSV63851647&COSV63851647;CSQ_COSMICncMuts=COSV63851647;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.791 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,23:110:0.20909:65:-100:0.1473:5,4,1,5,4,4,17,26,19,15,13,20:100:100 +6 117647755 . A T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=32/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5367-178T>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117647755A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.217 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,18:122:0.14754:65:-100:0.1757:2,7,1,3,1,4,13,51,9,16,5,28:100:100 +6 117648064 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=32/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5367-487G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117648064C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2763;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0892557;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853959&COSV63853959;CSQ_COSMICncMuts=COSV63853959;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:R1783int&ROS1:R1783inta&ROS1:R1785int&ROS1:R1785inta&ROS1:R1789int&ROS1:R1789inta;CSQ_CADD_PHRED=1.191 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,8:133:0.06015:65:-100:0.1419:3,2,1,1,0,1,27,48,15,16,9,18:88.46:100 +6 117648340 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=32/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5367-763G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117648340C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2764;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.08934;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853961&COSV63853961;CSQ_COSMICncMuts=COSV63853961;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:R1783int&ROS1:R1783inta&ROS1:R1785int&ROS1:R1785inta&ROS1:R1789int&ROS1:R1789inta;CSQ_CADD_PHRED=3.517 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,6:123:0.04878:65:-100:0.1338:0,6,0,0,0,0,20,43,7,23,12,18:73.913:100 +6 117648641 . GA G 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=32/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5367-1065del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117648645del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,9:157:0.05732:65:-100:0:1,3,0,2,1,2,24,52,13,26,21,21:100:100 +6 117649173 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=32/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5366+1319G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117649173C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2764;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0893053;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853964&COSV63853964;CSQ_COSMICncMuts=COSV63853964;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:R1783int&ROS1:R1783intd&ROS1:R1785int&ROS1:R1785intd&ROS1:R1789int&ROS1:R1789intd;CSQ_CADD_PHRED=1.681 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,11:141:0.07801:65:-100:0.1607:5,1,0,1,2,2,17,47,13,27,10,27:100:100 +6 117649988 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=32/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5366+504A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117649988T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4043;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.130706;CSQ_gnomADe_AC=33640;CSQ_gnomADe_AN=238084;CSQ_gnomADe_AF=0.141295;CSQ_gnomADe_Hom=2502;CSQ_COSMICcMuts=COSV63851422&COSV63851422;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:R1783int&ROS1:R1783intd&ROS1:R1785int&ROS1:R1785intd&ROS1:R1789int&ROS1:R1789intd;CSQ_CADD_PHRED=2.757 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,9:131:0.0687:65:-100:0.1027:1,5,3,0,0,0,23,46,11,16,9,26:90.634:100 +6 117650131 . A T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=32/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5366+361T>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117650131A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2762;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0891716;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853970&COSV63853970;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:R1783int&ROS1:R1783intd&ROS1:R1785int&ROS1:R1785intd&ROS1:R1789int&ROS1:R1789intd;CSQ_CADD_PHRED=7.560 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,8:135:0.05926:65:-100:0.0753:3,2,2,0,0,1,24,42,7,17,14,31:100:100 +6 117650532 . C G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=32/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5326G>C;CSQ_HGVSp=NP_002935.2:p.Asp1776His;CSQ_HGVSg=6:g.117650532C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=773729;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=585;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.018888;CSQ_gnomADe_AC=2051;CSQ_gnomADe_AN=245434;CSQ_gnomADe_AF=0.00835663;CSQ_gnomADe_Hom=47;CSQ_COSMICcMuts=COSV63851652&COSV63851652;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.16;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=0.353;CSQ_Mastermind_MMID3=ROS1:D1770H&ROS1:D1772H&ROS1:D1776H;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,16:146:0.10959:65:-100:0.1462:0,9,0,3,2,2,24,54,7,21,8,32:100:100 +6 117650800 . G A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-191C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117650800G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4671;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.151243;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63851656&COSV63851656;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:A1744int&ROS1:A1744inta&ROS1:A1746int&ROS1:A1746inta&ROS1:A1750int&ROS1:A1750inta;CSQ_CADD_PHRED=1.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,12:170:0.07059:65:-100:0.1005:2,8,0,1,0,1,27,70,15,27,14,17:100:100 +6 117650965 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-356G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117650965C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,10:153:0.06536:65:-100:0.1453:2,1,1,2,1,3,22,51,15,29,18,18:100:100 +6 117651344 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-735T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117651344A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2764;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0893746;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853975&COSV63853975;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:A1744int&ROS1:A1744inta&ROS1:A1746int&ROS1:A1746inta&ROS1:A1750int&ROS1:A1750inta;CSQ_CADD_PHRED=0.058 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,8:148:0.05405:65:-100:0.1243:1,5,0,1,1,0,21,62,13,24,6,22:93.543:100 +6 117651926 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-1317A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117651926T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11358;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.368503;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.832 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,21:121:0.17355:65:-100:0.1168:1,4,0,5,2,9,17,38,9,25,8,24:100:100 +6 117652187 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-1578A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117652187T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2758;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0891115;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853980&COSV63853980;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:A1744int&ROS1:A1744inta&ROS1:A1746int&ROS1:A1746inta&ROS1:A1750int&ROS1:A1750inta;CSQ_CADD_PHRED=5.545 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,9:156:0.05769:65:-100:0.1429:1,3,1,1,0,3,30,48,11,26,15,26:84.508:100 +6 117652432 . A C 100 PASS DP=102;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-1823T>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117652432A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=283;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00913729;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.110 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,6:102:0.05882:65:-97.8929:0.1429:1,1,0,2,1,1,22,31,9,17,8,15:84.08:100 +6 117653646 . G C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-3037C>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117653646G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=87;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00281008;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63851662&COSV63851662;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,11:105:0.10476:65:-100:0.0948:0,8,0,0,0,3,18,31,12,19,7,18:100:100 +6 117653900 . G A 100 PASS DP=93;CSQ_Allele=A;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-3291C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117653900G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2767;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0893792;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63861477&COSV63861477;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.387 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,11:93:0.11828:65:-100:0.1913:4,3,1,1,0,2,15,30,8,13,7,20:100:100 +6 117654168 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5249-3559C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117654168G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.878 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,12:102:0.11765:65:-100:0.1639:2,3,2,2,2,1,19,31,9,17,10,16:100:100 +6 117654711 . T C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5248+3624A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117654711T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30934;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.998967;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.991 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,100:100:1:65:-100:0.187:17,35,12,13,5,18,17,35,12,13,5,18:100:100 +6 117655000 . A G 100 PASS DP=118;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5248+3335T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117655000A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2763;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0892557;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853983&COSV63853983;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:A1744int&ROS1:A1744intd&ROS1:A1746int&ROS1:A1746intd&ROS1:A1750int&ROS1:A1750intd;CSQ_CADD_PHRED=6.760 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0.1748:2,6,0,2,0,1,14,53,10,22,8,11:100:100 +6 117656893 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5248+1442T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117656893A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.932 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,9:116:0.07759:65:-100:0.1888:1,2,2,0,2,2,12,42,9,18,12,23:85.452:100 +6 117656987 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5248+1348G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117656987C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1318;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0426124;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.970 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,14:133:0.10526:65:-100:0.0952:1,5,0,2,0,6,22,48,10,16,8,29:100:100 +6 117657400 . A G 100 PASS DP=118;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5248+935T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117657400A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=81;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.00261696;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63851669&COSV63851669;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.308 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,18:118:0.15254:65:-100:0.1511:2,9,1,2,1,3,11,40,17,14,13,23:100:100 +6 117657686 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5248+649T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117657686A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2649;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0855675;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63857338&COSV63857338;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:A1744int&ROS1:A1744intd&ROS1:A1746int&ROS1:A1746intd&ROS1:A1750int&ROS1:A1750intd;CSQ_CADD_PHRED=7.871 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,11:116:0.09483:65:-100:0.1278:1,3,1,0,3,3,14,32,6,26,8,30:100:100 +6 117658193 . G C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=31/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5248+142C>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117658193G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2891;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.093572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853994&COSV63853994;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:A1744int&ROS1:A1744intd&ROS1:A1746int&ROS1:A1746intd&ROS1:A1750int&ROS1:A1750intd;CSQ_CADD_PHRED=2.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,7:146:0.04795:65:-97.0235:0.0759:1,4,0,2,0,0,22,53,14,26,14,17:100:100 +6 117659005 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=30/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5080-502G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117659005C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6453;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.209228;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:K1687int&ROS1:K1687inta&ROS1:K1689int&ROS1:K1689inta&ROS1:K1693int&ROS1:K1693inta;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,9:128:0.07031:65:-100:0.0857:1,3,1,3,0,1,15,36,16,25,16,20:100:100 +6 117659026 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=30/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5080-523T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117659026A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6461;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.209053;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:K1687int&ROS1:K1687inta&ROS1:K1689int&ROS1:K1689inta&ROS1:K1693int&ROS1:K1693inta;CSQ_CADD_PHRED=6.801 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,14:137:0.10219:65:-100:0.1384:1,6,2,3,0,2,17,41,16,27,12,24:100:100 +6 117659853 . C G 100 PASS DP=118;CSQ_Allele=G;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=30/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5080-1350G>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117659853C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2883;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.0932467;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63853997&COSV63853997;CSQ_COSMICncMuts=COSV63853997;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:K1687int&ROS1:K1687inta&ROS1:K1689int&ROS1:K1689inta&ROS1:K1693int&ROS1:K1693inta;CSQ_CADD_PHRED=1.285 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,8:118:0.0678:65:-100:0.1259:1,3,0,3,1,0,12,51,10,16,9,20:100:100 +6 117661264 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=30/42;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.5079+1034A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.117661264T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27571;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.890824;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63856583&COSV63856583;CSQ_COSMICncMuts=COSV63856583;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.508 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,99:118:0.83898:65:-100:0.1194:17,29,4,19,11,19,20,39,6,19,13,21:100:100 +6 117686840 . T C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=ROS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.2877A>G;CSQ_HGVSp=NP_002935.2:p.Glu959%3D;CSQ_HGVSg=6:g.117686840T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1942;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.062791;CSQ_gnomADe_AC=11713;CSQ_gnomADe_AN=244858;CSQ_gnomADe_AF=0.0478359;CSQ_gnomADe_Hom=427;CSQ_COSMICcMuts=COSV63862637&COSV63862637;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:E954E&ROS1:E955E&ROS1:E959E;CSQ_CADD_PHRED=9.878 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,28:116:0.24138:65:-100:0.1077:2,12,2,4,5,3,13,40,6,24,18,15:100:100 +6 117718110 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ROS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.747G>A;CSQ_HGVSp=NP_002935.2:p.Gln249%3D;CSQ_HGVSg=6:g.117718110C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246136;CSQ_gnomADe_AF=8.12559e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63862494&COSV63862494;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.16;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:Q249Q;CSQ_CADD_PHRED=13.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,9:130:0.06923:65:-100:0.172:1,4,0,2,1,1,22,46,10,24,9,19:100:100 +6 117724428 . G A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=ROS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.451C>T;CSQ_HGVSp=NP_002935.2:p.Pro151Ser;CSQ_HGVSg=6:g.117724428G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63850933&COSV63850933;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.110;CSQ_Mastermind_MMID3=ROS1:P151S&ROS1:P160S;CSQ_CADD_PHRED=13.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,11:138:0.07971:65:-100:0.1977:0,4,2,3,1,1,29,45,15,22,9,18:100:100 +6 117725578 . T A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ROS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/43;CSQ_INTRON=.;CSQ_Feature=NM_002944.3;CSQ_HGVSc=NM_002944.3:c.303A>T;CSQ_HGVSp=NP_002935.2:p.Leu101%3D;CSQ_HGVSg=6:g.117725578T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19337;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.626117;CSQ_gnomADe_AC=132275;CSQ_gnomADe_AN=245576;CSQ_gnomADe_AF=0.538632;CSQ_gnomADe_Hom=37471;CSQ_COSMICcMuts=COSV63852338&COSV63852338;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ROS1:L101L&ROS1:L110L;CSQ_CADD_PHRED=0.915 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,51:121:0.42149:65:-100:0.1824:8,19,5,4,5,10,15,45,13,20,7,21:100:100 +6 135521280 . A G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/15;CSQ_INTRON=.;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1395A>G;CSQ_HGVSp=NP_001123644.1:p.Thr465%3D;CSQ_HGVSg=6:g.135521280A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=777404;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=140;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00451963;CSQ_gnomADe_AC=1064;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.00432267;CSQ_gnomADe_Hom=7;CSQ_COSMICcMuts=COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619;CSQ_COSMICncMuts=COSV104413619&COSV104413619&COSV104413619;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,7:129:0.05426:65:-100:0.1342:1,3,0,0,3,0,24,40,6,19,17,23:75.733:100 +6 135521280 . A G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.1767A>G;CSQ_HGVSp=NP_001123645.1:p.Thr589%3D;CSQ_HGVSg=6:g.135521280A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=777404;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=140;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00451963;CSQ_gnomADe_AC=1064;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.00432267;CSQ_gnomADe_Hom=7;CSQ_COSMICcMuts=COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619&COSV104413619;CSQ_COSMICncMuts=COSV104413619&COSV104413619&COSV104413619;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,7:129:0.05426:65:-100:0.1342:1,3,0,0,3,0,24,40,6,19,17,23:75.733:100 +6 135524516 . A G 100 PASS DP=174;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+54A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135524516A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=96812;CSQ_gnomADe_AN=233822;CSQ_gnomADe_AF=0.414041;CSQ_gnomADe_Hom=20260;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=9.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,78:174:0.44828:65:-100:0.0984:9,24,9,13,7,16,23,61,16,24,17,33:100:100 +6 135524516 . A G 100 PASS DP=174;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+54A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135524516A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=96812;CSQ_gnomADe_AN=233822;CSQ_gnomADe_AF=0.414041;CSQ_gnomADe_Hom=20260;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=9.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,78:174:0.44828:65:-100:0.0984:9,24,9,13,7,16,23,61,16,24,17,33:100:100 +6 135525396 . G T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+934G>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135525396G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14020;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.453839;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=1.090 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,49:141:0.34752:65:-100:0.1242:14,16,3,7,3,6,36,44,15,18,8,20:100:100 +6 135525396 . G T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+934G>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135525396G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14020;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.453839;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=1.090 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,49:141:0.34752:65:-100:0.1242:14,16,3,7,3,6,36,44,15,18,8,20:100:100 +6 135525737 . A G 100 PASS DP=144;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+1275A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135525737A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13702;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.443172;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=2.102 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,65:144:0.45139:65:-100:0.1056:7,29,3,8,5,13,17,62,12,17,13,23:100:100 +6 135525737 . A G 100 PASS DP=144;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+1275A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135525737A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13702;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.443172;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=2.102 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,65:144:0.45139:65:-100:0.1056:7,29,3,8,5,13,17,62,12,17,13,23:100:100 +6 135525927 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+1465T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135525927T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13985;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.452941;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=1.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,51:126:0.40476:65:-100:0.1765:9,20,5,8,3,6,14,50,14,22,9,17:100:100 +6 135525927 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+1465T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135525927T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13985;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.452941;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=1.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,51:126:0.40476:65:-100:0.1765:9,20,5,8,3,6,14,50,14,22,9,17:100:100 +6 135526210 . A C 100 PASS DP=92;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+1748A>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526210A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=253;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.00817395;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.810 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,8:92:0.08696:65:-49.9485:0.2581:0,1,0,0,1,6,9,30,7,15,10,21:100:100 +6 135526210 . A C 100 PASS DP=92;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+1748A>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526210A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=253;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.00817395;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.810 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,8:92:0.08696:65:-49.9485:0.2581:0,1,0,0,1,6,9,30,7,15,10,21:100:100 +6 135526239 . G A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+1777G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526239G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=907;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0293262;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.901 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,8:106:0.07547:65:-96.8868:0.1719:1,5,0,1,0,1,15,39,4,17,10,21:99.299:100 +6 135526239 . G A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+1777G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526239G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=907;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0293262;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.901 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,8:106:0.07547:65:-96.8868:0.1719:1,5,0,1,0,1,15,39,4,17,10,21:99.299:100 +6 135526441 . T C 100 PASS DP=117;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+1979T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526441T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.485 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,9:117:0.07692:65:-100:0.1761:1,1,0,4,2,1,14,39,12,22,10,20:100:100 +6 135526441 . T C 100 PASS DP=117;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+1979T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526441T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.485 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,9:117:0.07692:65:-100:0.1761:1,1,0,4,2,1,14,39,12,22,10,20:100:100 +6 135526718 . CCTGT C 100 PASS DP=132;CSQ_Allele=-;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+2259_1797+2262del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526721_135526724del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=128;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00413277;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.115 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,7:132:0.05303:65:-96.2334:0:1,1,1,0,0,4,23,43,18,17,9,21:66.674:100 +6 135526718 . CCTGT C 100 PASS DP=132;CSQ_Allele=-;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+2259_2169+2262del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526721_135526724del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=128;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00413277;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.115 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,7:132:0.05303:65:-96.2334:0:1,1,1,0,0,4,23,43,18,17,9,21:66.674:100 +6 135526768 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+2306C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526768C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11771;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.381012;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=1.647 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,58:131:0.44275:65:-100:0.1208:7,17,5,10,5,14,21,44,11,23,9,23:100:100 +6 135526768 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+2306C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135526768C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11771;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.381012;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=1.647 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,58:131:0.44275:65:-100:0.1208:7,17,5,10,5,14,21,44,11,23,9,23:100:100 +6 135527545 . A T 100 PASS DP=83;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+3083A>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135527545A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30556;CSQ_gnomADg_AF=0.000392722;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,9:83:0.10843:65:-100:0.2385:1,3,1,1,2,1,14,24,8,10,14,13:100:100 +6 135527545 . A T 100 PASS DP=83;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+3083A>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135527545A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30556;CSQ_gnomADg_AF=0.000392722;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,9:83:0.10843:65:-100:0.2385:1,3,1,1,2,1,14,24,8,10,14,13:100:100 +6 135528300 . C T 100 PASS DP=114;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+3838C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135528300C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3142;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.101611;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.464 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,26:114:0.22807:65:-100:0.1364:2,6,0,7,4,7,12,40,4,25,8,25:100:100 +6 135528300 . C T 100 PASS DP=114;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+3838C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135528300C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3142;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.101611;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.464 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,26:114:0.22807:65:-100:0.1364:2,6,0,7,4,7,12,40,4,25,8,25:100:100 +6 135528722 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+4260A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135528722A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13819;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.447333;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=6.476 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,57:150:0.38:65:-100:0.1429:9,19,6,10,5,8,20,54,11,29,8,28:100:100 +6 135528722 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+4260A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135528722A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13819;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.447333;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=6.476 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,57:150:0.38:65:-100:0.1429:9,19,6,10,5,8,20,54,11,29,8,28:100:100 +6 135529561 . C T 100 PASS DP=59;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+5099C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135529561C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11606;CSQ_gnomADg_AN=30542;CSQ_gnomADg_AF=0.380001;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=13.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,31:59:0.52542:65:-100:0.3789:10,5,8,1,4,3,20,12,12,2,10,3:100:100 +6 135529561 . C T 100 PASS DP=59;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+5099C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135529561C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11606;CSQ_gnomADg_AN=30542;CSQ_gnomADg_AF=0.380001;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=13.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,31:59:0.52542:65:-100:0.3789:10,5,8,1,4,3,20,12,12,2,10,3:100:100 +6 135530039 . C A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+5577C>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135530039C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3280;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.106094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.820 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,42:140:0.3:65:-100:0.1083:7,17,4,4,2,8,18,51,12,17,16,26:100:100 +6 135530039 . C A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+5577C>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135530039C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3280;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.106094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.820 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,42:140:0.3:65:-100:0.1083:7,17,4,4,2,8,18,51,12,17,16,26:100:100 +6 135531451 . C G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+6989C>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135531451C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11780;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.381501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=20.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,48:125:0.384:65:-100:0.1007:8,14,8,8,1,9,22,33,13,19,15,23:100:100 +6 135531451 . C G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+6989C>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135531451C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11780;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.381501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=20.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,48:125:0.384:65:-100:0.1007:8,14,8,8,1,9,22,33,13,19,15,23:100:100 +6 135531639 . G T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1797+7177G>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135531639G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11368;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.367682;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=1.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,53:152:0.34868:65:-100:0.1314:11,18,5,9,3,7,30,52,9,29,9,23:100:100 +6 135531639 . G T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2169+7177G>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135531639G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11368;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.367682;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517intd&MYB:Q565int&MYB:Q565intd&MYB:Q567int&MYB:Q567intd&MYB:Q599int&MYB:Q599intd&MYB:Q602int&MYB:Q602intd&MYB:Q707int&MYB:Q707intd&MYB:Q720int&MYB:Q720intd&MYB:Q723int&MYB:Q723intd;CSQ_CADD_PHRED=1.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,53:152:0.34868:65:-100:0.1314:11,18,5,9,3,7,30,52,9,29,9,23:100:100 +6 135531787 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-7215G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135531787G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.000516362;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.870 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,19:146:0.13014:65:-100:0.1257:4,7,2,1,1,4,25,42,13,24,16,26:100:100 +6 135531787 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-7215G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135531787G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.000516362;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.870 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,19:146:0.13014:65:-100:0.1257:4,7,2,1,1,4,25,42,13,24,16,26:100:100 +6 135531800 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-7202T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135531800T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16741;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.54157;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=7.075 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,87:152:0.57237:65:-100:0.1412:10,27,7,15,14,14,18,52,13,25,20,24:100:100 +6 135531800 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-7202T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135531800T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16741;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.54157;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=7.075 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,87:152:0.57237:65:-100:0.1412:10,27,7,15,14,14,18,52,13,25,20,24:100:100 +6 135532102 . T G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-6900T>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135532102T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=565;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0182588;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.42 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,15:140:0.10714:65:-100:0.1716:3,3,0,4,1,4,15,48,12,32,14,19:100:100 +6 135532102 . T G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-6900T>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135532102T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=565;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0182588;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.42 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,15:140:0.10714:65:-100:0.1716:3,3,0,4,1,4,15,48,12,32,14,19:100:100 +6 135532268 . T A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-6734T>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135532268T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=504;CSQ_gnomADg_AN=30632;CSQ_gnomADg_AF=0.0164534;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.833 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,10:183:0.05464:65:-100:0.0941:4,1,1,2,1,1,40,61,14,24,19,25:100:100 +6 135532268 . T A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-6734T>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135532268T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=504;CSQ_gnomADg_AN=30632;CSQ_gnomADg_AF=0.0164534;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.833 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,10:183:0.05464:65:-100:0.0941:4,1,1,2,1,1,40,61,14,24,19,25:100:100 +6 135532347 . TC T 100 PASS DP=142;CSQ_Allele=-;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-6651del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135532351del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,8:142:0.05634:65:-100:0:0,3,1,3,1,0,24,44,9,30,10,25:73.764:100 +6 135532347 . TC T 100 PASS DP=142;CSQ_Allele=-;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-6651del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135532351del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,8:142:0.05634:65:-100:0:0,3,1,3,1,0,24,44,9,30,10,25:73.764:100 +6 135532832 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-6170A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135532832A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1041;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.033611;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.280 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,13:122:0.10656:65:-100:0.1348:0,7,2,0,0,4,18,42,10,16,9,27:100:100 +6 135532832 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-6170A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135532832A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1041;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.033611;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.280 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,13:122:0.10656:65:-100:0.1348:0,7,2,0,0,4,18,42,10,16,9,27:100:100 +6 135533284 . T G 100 PASS DP=97;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-5718T>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135533284T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16349;CSQ_gnomADg_AN=30234;CSQ_gnomADg_AF=0.540749;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=4.389 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,50:97:0.51546:65:-100:0.224:12,11,6,5,5,11,21,24,14,10,8,20:100:100 +6 135533284 . T G 100 PASS DP=97;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-5718T>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135533284T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16349;CSQ_gnomADg_AN=30234;CSQ_gnomADg_AF=0.540749;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=4.389 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,50:97:0.51546:65:-100:0.224:12,11,6,5,5,11,21,24,14,10,8,20:100:100 +6 135534646 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-4356A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135534646A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3274;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.105756;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,37:130:0.28462:65:-100:0.0845:6,10,2,7,6,6,23,47,9,19,13,19:100:100 +6 135534646 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-4356A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135534646A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3274;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.105756;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,37:130:0.28462:65:-100:0.0845:6,10,2,7,6,6,23,47,9,19,13,19:100:100 +6 135534823 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-4179T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135534823T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30249;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.976846;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.154 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:1,112:114:0.98246:65:-100:0.1231:12,34,6,18,11,31,12,34,6,19,12,31:100:100 +6 135534823 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-4179T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135534823T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30249;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.976846;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.154 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:1,112:114:0.98246:65:-100:0.1231:12,34,6,18,11,31,12,34,6,19,12,31:100:100 +6 135535018 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-3984G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135535018G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19072;CSQ_gnomADg_AN=30718;CSQ_gnomADg_AF=0.620874;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=4.694 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,71:124:0.57258:65:-100:0.1507:10,24,9,13,4,11,21,35,15,20,15,18:100:100 +6 135535018 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-3984G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135535018G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19072;CSQ_gnomADg_AN=30718;CSQ_gnomADg_AF=0.620874;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=4.694 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,71:124:0.57258:65:-100:0.1507:10,24,9,13,4,11,21,35,15,20,15,18:100:100 +6 135535240 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-3762C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135535240C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11308;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.367119;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=2.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,32:112:0.28571:65:-100:0.1515:4,11,6,6,2,3,15,39,14,17,11,16:100:100 +6 135535240 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-3762C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135535240C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11308;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.367119;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=2.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,32:112:0.28571:65:-100:0.1515:4,11,6,6,2,3,15,39,14,17,11,16:100:100 +6 135535447 . T C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-3555T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135535447T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11270;CSQ_gnomADg_AN=30682;CSQ_gnomADg_AF=0.367316;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=2.044 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,45:112:0.40179:65:-100:0.2057:6,15,2,7,3,12,13,34,8,23,6,28:100:100 +6 135535447 . T C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-3555T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135535447T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11270;CSQ_gnomADg_AN=30682;CSQ_gnomADg_AF=0.367316;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=2.044 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,45:112:0.40179:65:-100:0.2057:6,15,2,7,3,12,13,34,8,23,6,28:100:100 +6 135535487 . T A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-3515T>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135535487T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.804 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,11:132:0.08333:65:-48.4679:0.1429:0,3,1,4,1,2,20,36,14,27,14,21:100:100 +6 135535487 . T A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-3515T>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135535487T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.804 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,11:132:0.08333:65:-48.4679:0.1429:0,3,1,4,1,2,20,36,14,27,14,21:100:100 +6 135536021 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-2981C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135536021C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5200;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.168111;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=3.120 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,30:139:0.21583:65:-100:0.1146:4,11,3,3,0,9,20,51,13,20,10,25:100:100 +6 135536021 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-2981C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135536021C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5200;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.168111;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=3.120 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,30:139:0.21583:65:-100:0.1146:4,11,3,3,0,9,20,51,13,20,10,25:100:100 +6 135536297 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-2705C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135536297C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=161;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00519757;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.965 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-47.3658:0.1486:3,2,0,1,0,1,26,46,7,19,10,18:92.26:100 +6 135536297 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-2705C>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135536297C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=161;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00519757;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.965 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-47.3658:0.1486:3,2,0,1,0,1,26,46,7,19,10,18:92.26:100 +6 135536496 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-2506T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135536496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17650;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.571493;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=3.428 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,69:115:0.6:65:-100:0.1418:9,25,2,13,3,17,16,44,2,23,5,25:100:100 +6 135536496 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-2506T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135536496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17650;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.571493;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=3.428 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,69:115:0.6:65:-100:0.1418:9,25,2,13,3,17,16,44,2,23,5,25:100:100 +6 135536586 . A G 100 PASS DP=163;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-2416A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135536586A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17333;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.561484;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=6.029 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,91:163:0.55828:65:-100:0.1641:17,29,6,20,6,13,26,63,12,30,11,21:100:100 +6 135536586 . A G 100 PASS DP=163;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-2416A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135536586A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17333;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.561484;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=6.029 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,91:163:0.55828:65:-100:0.1641:17,29,6,20,6,13,26,63,12,30,11,21:100:100 +6 135537193 . A G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-1809A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135537193A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5331;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.172569;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=0.401 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,30:154:0.19481:65:-100:0.125:4,8,1,6,1,10,32,45,15,25,8,29:100:100 +6 135537193 . A G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-1809A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135537193A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5331;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.172569;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=0.401 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,30:154:0.19481:65:-100:0.125:4,8,1,6,1,10,32,45,15,25,8,29:100:100 +6 135537890 . C G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-1112C>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135537890C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10800;CSQ_gnomADg_AN=30748;CSQ_gnomADg_AF=0.351242;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=0.312 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,39:125:0.312:65:-100:0.1319:4,15,6,6,6,2,16,42,11,23,13,20:100:100 +6 135537890 . C G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-1112C>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135537890C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10800;CSQ_gnomADg_AN=30748;CSQ_gnomADg_AF=0.351242;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=0.312 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,39:125:0.312:65:-100:0.1319:4,15,6,6,6,2,16,42,11,23,13,20:100:100 +6 135537897 . A G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-1105A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135537897A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11147;CSQ_gnomADg_AN=30756;CSQ_gnomADg_AF=0.362433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=3.511 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,40:127:0.31496:65:-100:0.1477:3,14,5,7,7,4,16,44,10,21,13,23:100:100 +6 135537897 . A G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-1105A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135537897A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11147;CSQ_gnomADg_AN=30756;CSQ_gnomADg_AF=0.362433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=3.511 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,40:127:0.31496:65:-100:0.1477:3,14,5,7,7,4,16,44,10,21,13,23:100:100 +6 135538592 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-410G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135538592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14604;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.472927;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=3.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,79:168:0.47024:65:-100:0.1724:10,27,6,11,8,17,23,59,12,25,15,34:100:100 +6 135538592 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-410G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135538592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14604;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.472927;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=3.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,79:168:0.47024:65:-100:0.1724:10,27,6,11,8,17,23,59,12,25,15,34:100:100 +6 135538639 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001130172.2;CSQ_HGVSc=NM_001130172.2:c.1798-363A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135538639A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21216;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.68638;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=2.082 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,107:153:0.69935:65:-100:0.1356:14,35,10,17,7,24,22,50,16,22,10,33:100:100 +6 135538639 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=MYB;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_001130173.2;CSQ_HGVSc=NM_001130173.2:c.2170-363A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.135538639A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21216;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.68638;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYB:Q517int&MYB:Q517inta&MYB:Q565int&MYB:Q565inta&MYB:Q567int&MYB:Q567inta&MYB:Q599int&MYB:Q599inta&MYB:Q602int&MYB:Q602inta&MYB:Q707int&MYB:Q707inta&MYB:Q720int&MYB:Q720inta&MYB:Q723int&MYB:Q723inta;CSQ_CADD_PHRED=2.082 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,107:153:0.69935:65:-100:0.1356:14,35,10,17,7,24,22,50,16,22,10,33:100:100 +6 138202185 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=TNFAIP3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001270507.2;CSQ_HGVSc=NM_001270507.2:c.2102G>A;CSQ_HGVSp=NP_001257436.1:p.Arg701His;CSQ_HGVSg=6:g.138202185G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=241620;CSQ_gnomADe_AF=2.48324e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52796923;CSQ_COSMICncMuts=COSV52796923;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.050;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,10:125:0.08:65:-100:0.1667:0,4,4,1,0,1,18,40,15,22,11,19:100:100 +6 149983216 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=LATS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_004690.4;CSQ_HGVSc=NM_004690.4:c.3042C>T;CSQ_HGVSp=NP_004681.1:p.Asp1014%3D;CSQ_HGVSg=6:g.149983216G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13631;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.441848;CSQ_gnomADe_AC=113114;CSQ_gnomADe_AN=246128;CSQ_gnomADe_AF=0.459574;CSQ_gnomADe_Hom=28950;CSQ_COSMICcMuts=COSV53601012&COSV53601012;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LATS1:D1014D&LATS1:D734D&LATS1:D909D&LATS1:D942D;CSQ_CADD_PHRED=9.917 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,47:135:0.34815:65:-100:0.1718:3,24,6,8,2,4,21,54,9,27,8,16:100:100 +6 150004779 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=LATS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001270519.2;CSQ_HGVSc=NM_001270519.2:c.1446T>C;CSQ_HGVSp=NP_001257448.1:p.Ser482%3D;CSQ_HGVSg=6:g.150004779A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13686;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.442512;CSQ_gnomADe_AC=113133;CSQ_gnomADe_AN=246254;CSQ_gnomADe_AF=0.459416;CSQ_gnomADe_Hom=28957;CSQ_COSMICcMuts=COSV53593962&COSV53593962&COSV53593962;CSQ_COSMICncMuts=COSV53593962&COSV53593962;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LATS1:S202S&LATS1:S377S&LATS1:S482S;CSQ_CADD_PHRED=3.741 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,45:134:0.33582:65:-100:0.1126:7,19,7,6,2,4,19,51,18,23,8,15:100:100 +6 150004779 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=LATS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_004690.4;CSQ_HGVSc=NM_004690.4:c.1446T>C;CSQ_HGVSp=NP_004681.1:p.Ser482%3D;CSQ_HGVSg=6:g.150004779A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13686;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.442512;CSQ_gnomADe_AC=113133;CSQ_gnomADe_AN=246254;CSQ_gnomADe_AF=0.459416;CSQ_gnomADe_Hom=28957;CSQ_COSMICcMuts=COSV53593962&COSV53593962&COSV53593962;CSQ_COSMICncMuts=COSV53593962&COSV53593962;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LATS1:S202S&LATS1:S377S&LATS1:S482S;CSQ_CADD_PHRED=3.741 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,45:134:0.33582:65:-100:0.1126:7,19,7,6,2,4,19,51,18,23,8,15:100:100 +6 150005250 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=LATS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001270519.2;CSQ_HGVSc=NM_001270519.2:c.975T>C;CSQ_HGVSp=NP_001257448.1:p.Val325%3D;CSQ_HGVSg=6:g.150005250A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=533;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.0172035;CSQ_gnomADe_AC=3897;CSQ_gnomADe_AN=246042;CSQ_gnomADe_AF=0.0158388;CSQ_gnomADe_Hom=50;CSQ_COSMICcMuts=COSV53601083&COSV53601083&COSV53601083;CSQ_COSMICncMuts=COSV53601083&COSV53601083;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LATS1:V220V&LATS1:V325V&LATS1:V45V;CSQ_CADD_PHRED=10.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,17:146:0.11644:65:-100:0.1705:3,5,1,3,1,4,27,43,12,17,13,34:100:100 +6 150005250 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=LATS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_004690.4;CSQ_HGVSc=NM_004690.4:c.975T>C;CSQ_HGVSp=NP_004681.1:p.Val325%3D;CSQ_HGVSg=6:g.150005250A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=533;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.0172035;CSQ_gnomADe_AC=3897;CSQ_gnomADe_AN=246042;CSQ_gnomADe_AF=0.0158388;CSQ_gnomADe_Hom=50;CSQ_COSMICcMuts=COSV53601083&COSV53601083&COSV53601083;CSQ_COSMICncMuts=COSV53601083&COSV53601083;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LATS1:V220V&LATS1:V325V&LATS1:V45V;CSQ_CADD_PHRED=10.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,17:146:0.11644:65:-100:0.1705:3,5,1,3,1,4,27,43,12,17,13,34:100:100 +6 151686905 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=ZBTB2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_020861.3;CSQ_HGVSc=NM_020861.3:c.1296G>A;CSQ_HGVSp=NP_065912.1:p.Glu432%3D;CSQ_HGVSg=6:g.151686905C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1286394;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=17062;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.55174;CSQ_gnomADe_AC=136695;CSQ_gnomADe_AN=246136;CSQ_gnomADe_AF=0.555364;CSQ_gnomADe_Hom=40083;CSQ_COSMICcMuts=COSV57312030;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZBTB2:E432E;CSQ_CADD_PHRED=10.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,121:151:0.80132:65:-100:0.1564:17,50,6,22,11,15,21,62,7,25,16,20:100:100 +6 152125444 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_000125.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152125444T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23833;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.771245;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:5UTR&ESR1:5UTRint&ESR1:5UTRinta;CSQ_CADD_PHRED=0.636 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,70:132:0.5303:65:-100:0.1902:14,17,8,14,5,12,25,46,12,24,7,18:100:100 +6 152125444 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/9;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.-70-3534T>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152125444T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23833;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.771245;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:5UTR&ESR1:5UTRint&ESR1:5UTRinta;CSQ_CADD_PHRED=0.636 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,70:132:0.5303:65:-100:0.1902:14,17,8,14,5,12,25,46,12,24,7,18:100:100 +6 152125444 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152125444T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23833;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.771245;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:5UTR&ESR1:5UTRint&ESR1:5UTRinta;CSQ_CADD_PHRED=0.636 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,70:132:0.5303:65:-100:0.1902:14,17,8,14,5,12,25,46,12,24,7,18:100:100 +6 152125444 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152125444T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23833;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.771245;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:5UTR&ESR1:5UTRint&ESR1:5UTRinta;CSQ_CADD_PHRED=0.636 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,70:132:0.5303:65:-100:0.1902:14,17,8,14,5,12,25,46,12,24,7,18:100:100 +6 152129077 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.30T>C;CSQ_HGVSp=NP_000116.2:p.Ser10%3D;CSQ_HGVSg=6:g.152129077T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1250979;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Migraine_with_or_without_aura&_susceptibility_to&_1&Myocardial_infarction&_susceptibility_to&Estrogen_resistance_syndrome&Familial_cancer_of_breast¬_provided;CSQ_gnomADg_AC=14737;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.477606;CSQ_gnomADe_AC=111995;CSQ_gnomADe_AN=242358;CSQ_gnomADe_AF=0.462106;CSQ_gnomADe_Hom=25995;CSQ_COSMICcMuts=COSV52785128&COSV52785128&COSV52785128&COSV52785128&COSV52785128&COSV52785128;CSQ_COSMICncMuts=COSV52785128&COSV52785128&COSV52785128;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:S10S;CSQ_CADD_PHRED=7.030 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,60:127:0.47244:65:-100:0.1589:9,19,7,9,3,13,15,48,12,23,9,20:100:100 +6 152129077 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.30T>C;CSQ_HGVSp=NP_001116214.1:p.Ser10%3D;CSQ_HGVSg=6:g.152129077T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1250979;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Migraine_with_or_without_aura&_susceptibility_to&_1&Myocardial_infarction&_susceptibility_to&Estrogen_resistance_syndrome&Familial_cancer_of_breast¬_provided;CSQ_gnomADg_AC=14737;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.477606;CSQ_gnomADe_AC=111995;CSQ_gnomADe_AN=242358;CSQ_gnomADe_AF=0.462106;CSQ_gnomADe_Hom=25995;CSQ_COSMICcMuts=COSV52785128&COSV52785128&COSV52785128&COSV52785128&COSV52785128&COSV52785128;CSQ_COSMICncMuts=COSV52785128&COSV52785128&COSV52785128;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:S10S;CSQ_CADD_PHRED=7.030 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,60:127:0.47244:65:-100:0.1589:9,19,7,9,3,13,15,48,12,23,9,20:100:100 +6 152129077 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.30T>C;CSQ_HGVSp=NP_001278159.1:p.Ser10%3D;CSQ_HGVSg=6:g.152129077T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1250979;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Migraine_with_or_without_aura&_susceptibility_to&_1&Myocardial_infarction&_susceptibility_to&Estrogen_resistance_syndrome&Familial_cancer_of_breast¬_provided;CSQ_gnomADg_AC=14737;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.477606;CSQ_gnomADe_AC=111995;CSQ_gnomADe_AN=242358;CSQ_gnomADe_AF=0.462106;CSQ_gnomADe_Hom=25995;CSQ_COSMICcMuts=COSV52785128&COSV52785128&COSV52785128&COSV52785128&COSV52785128&COSV52785128;CSQ_COSMICncMuts=COSV52785128&COSV52785128&COSV52785128;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:S10S;CSQ_CADD_PHRED=7.030 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,60:127:0.47244:65:-100:0.1589:9,19,7,9,3,13,15,48,12,23,9,20:100:100 +6 152129077 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.30T>C;CSQ_HGVSp=NP_001278170.1:p.Ser10%3D;CSQ_HGVSg=6:g.152129077T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1250979;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Migraine_with_or_without_aura&_susceptibility_to&_1&Myocardial_infarction&_susceptibility_to&Estrogen_resistance_syndrome&Familial_cancer_of_breast¬_provided;CSQ_gnomADg_AC=14737;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.477606;CSQ_gnomADe_AC=111995;CSQ_gnomADe_AN=242358;CSQ_gnomADe_AF=0.462106;CSQ_gnomADe_Hom=25995;CSQ_COSMICcMuts=COSV52785128&COSV52785128&COSV52785128&COSV52785128&COSV52785128&COSV52785128;CSQ_COSMICncMuts=COSV52785128&COSV52785128&COSV52785128;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:S10S;CSQ_CADD_PHRED=7.030 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,60:127:0.47244:65:-100:0.1589:9,19,7,9,3,13,15,48,12,23,9,20:100:100 +6 152163014 . A T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/7;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.453-718A>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152163014A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.125:4,5,2,1,1,2,19,47,9,20,9,22:100:100 +6 152163014 . A T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.453-718A>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152163014A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.125:4,5,2,1,1,2,19,47,9,20,9,22:100:100 +6 152163014 . A T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/8;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.453-718A>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152163014A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.125:4,5,2,1,1,2,19,47,9,20,9,22:100:100 +6 152163014 . A T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/8;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.453-718A>T;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152163014A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.125:4,5,2,1,1,2,19,47,9,20,9,22:100:100 +6 152178576 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.643+14654G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152178576G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2177;CSQ_gnomADg_AN=30712;CSQ_gnomADg_AF=0.0708843;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.596 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,19:113:0.16814:65:-100:0.1439:2,6,2,2,2,5,16,36,13,18,10,20:100:100 +6 152178576 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/9;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.643+14654G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152178576G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2177;CSQ_gnomADg_AN=30712;CSQ_gnomADg_AF=0.0708843;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.596 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,19:113:0.16814:65:-100:0.1439:2,6,2,2,2,5,16,36,13,18,10,20:100:100 +6 152178576 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/8;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.649+14648G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152178576G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2177;CSQ_gnomADg_AN=30712;CSQ_gnomADg_AF=0.0708843;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.596 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,19:113:0.16814:65:-100:0.1439:2,6,2,2,2,5,16,36,13,18,10,20:100:100 +6 152178576 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/8;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.643+14654G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152178576G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2177;CSQ_gnomADg_AN=30712;CSQ_gnomADg_AF=0.0708843;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.596 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,19:113:0.16814:65:-100:0.1439:2,6,2,2,2,5,16,36,13,18,10,20:100:100 +6 152201875 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.729T>C;CSQ_HGVSp=NP_000116.2:p.Arg243%3D;CSQ_HGVSg=6:g.152201875T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29977;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.967937;CSQ_gnomADe_AC=238757;CSQ_gnomADe_AN=246164;CSQ_gnomADe_AF=0.96991;CSQ_gnomADe_Hom=115825;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:R243R&ESR1:R245R&ESR1:R70R;CSQ_CADD_PHRED=12.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,119:130:0.91538:65:-100:0.0909:22,31,10,30,4,22,24,36,11,30,5,24:100:100 +6 152201875 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.729T>C;CSQ_HGVSp=NP_001116214.1:p.Arg243%3D;CSQ_HGVSg=6:g.152201875T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29977;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.967937;CSQ_gnomADe_AC=238757;CSQ_gnomADe_AN=246164;CSQ_gnomADe_AF=0.96991;CSQ_gnomADe_Hom=115825;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:R243R&ESR1:R245R&ESR1:R70R;CSQ_CADD_PHRED=12.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,119:130:0.91538:65:-100:0.0909:22,31,10,30,4,22,24,36,11,30,5,24:100:100 +6 152201875 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/9;CSQ_INTRON=.;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.735T>C;CSQ_HGVSp=NP_001278159.1:p.Arg245%3D;CSQ_HGVSg=6:g.152201875T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29977;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.967937;CSQ_gnomADe_AC=238757;CSQ_gnomADe_AN=246164;CSQ_gnomADe_AF=0.96991;CSQ_gnomADe_Hom=115825;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:R243R&ESR1:R245R&ESR1:R70R;CSQ_CADD_PHRED=12.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,119:130:0.91538:65:-100:0.0909:22,31,10,30,4,22,24,36,11,30,5,24:100:100 +6 152201875 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/9;CSQ_INTRON=.;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.729T>C;CSQ_HGVSp=NP_001278170.1:p.Arg243%3D;CSQ_HGVSg=6:g.152201875T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29977;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.967937;CSQ_gnomADe_AC=238757;CSQ_gnomADe_AN=246164;CSQ_gnomADe_AF=0.96991;CSQ_gnomADe_Hom=115825;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:R243R&ESR1:R245R&ESR1:R70R;CSQ_CADD_PHRED=12.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,119:130:0.91538:65:-100:0.0909:22,31,10,30,4,22,24,36,11,30,5,24:100:100 +6 152265522 . G C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.975G>C;CSQ_HGVSp=NP_000116.2:p.Pro325%3D;CSQ_HGVSg=6:g.152265522G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24368;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.787691;CSQ_gnomADe_AC=179736;CSQ_gnomADe_AN=246114;CSQ_gnomADe_AF=0.730296;CSQ_gnomADe_Hom=66934;CSQ_COSMICcMuts=COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:P152P&ESR1:P324P&ESR1:P325P&ESR1:P327P;CSQ_CADD_PHRED=0.958 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,100:142:0.70423:65:-100:0.1497:17,35,18,10,7,13,21,50,21,15,12,23:100:100 +6 152265522 . G C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.975G>C;CSQ_HGVSp=NP_001116214.1:p.Pro325%3D;CSQ_HGVSg=6:g.152265522G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24368;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.787691;CSQ_gnomADe_AC=179736;CSQ_gnomADe_AN=246114;CSQ_gnomADe_AF=0.730296;CSQ_gnomADe_Hom=66934;CSQ_COSMICcMuts=COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:P152P&ESR1:P324P&ESR1:P325P&ESR1:P327P;CSQ_CADD_PHRED=0.958 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,100:142:0.70423:65:-100:0.1497:17,35,18,10,7,13,21,50,21,15,12,23:100:100 +6 152265522 . G C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/9;CSQ_INTRON=.;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.981G>C;CSQ_HGVSp=NP_001278159.1:p.Pro327%3D;CSQ_HGVSg=6:g.152265522G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24368;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.787691;CSQ_gnomADe_AC=179736;CSQ_gnomADe_AN=246114;CSQ_gnomADe_AF=0.730296;CSQ_gnomADe_Hom=66934;CSQ_COSMICcMuts=COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:P152P&ESR1:P324P&ESR1:P325P&ESR1:P327P;CSQ_CADD_PHRED=0.958 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,100:142:0.70423:65:-100:0.1497:17,35,18,10,7,13,21,50,21,15,12,23:100:100 +6 152265522 . G C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/9;CSQ_INTRON=.;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.972G>C;CSQ_HGVSp=NP_001278170.1:p.Pro324%3D;CSQ_HGVSg=6:g.152265522G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24368;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.787691;CSQ_gnomADe_AC=179736;CSQ_gnomADe_AN=246114;CSQ_gnomADe_AF=0.730296;CSQ_gnomADe_Hom=66934;CSQ_COSMICcMuts=COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570&COSV52791570;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:P152P&ESR1:P324P&ESR1:P325P&ESR1:P327P;CSQ_CADD_PHRED=0.958 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,100:142:0.70423:65:-100:0.1497:17,35,18,10,7,13,21,50,21,15,12,23:100:100 +6 152287140 . GT G 100 PASS DP=112;CSQ_Allele=-;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.1096+21499del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152287142del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24591;CSQ_gnomADg_AN=30690;CSQ_gnomADg_AF=0.801271;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.665 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,91:112:0.8125:65:-100:0:18,35,3,12,8,15,22,43,6,13,8,20:100:100 +6 152287140 . GT G 100 PASS DP=112;CSQ_Allele=-;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.1096+21499del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152287142del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24591;CSQ_gnomADg_AN=30690;CSQ_gnomADg_AF=0.801271;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.665 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,91:112:0.8125:65:-100:0:18,35,3,12,8,15,22,43,6,13,8,20:100:100 +6 152287140 . GT G 100 PASS DP=112;CSQ_Allele=-;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.1102+21499del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152287142del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24591;CSQ_gnomADg_AN=30690;CSQ_gnomADg_AF=0.801271;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.665 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,91:112:0.8125:65:-100:0:18,35,3,12,8,15,22,43,6,13,8,20:100:100 +6 152287140 . GT G 100 PASS DP=112;CSQ_Allele=-;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.1093+21499del;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152287142del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24591;CSQ_gnomADg_AN=30690;CSQ_gnomADg_AF=0.801271;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.665 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,91:112:0.8125:65:-100:0:18,35,3,12,8,15,22,43,6,13,8,20:100:100 +6 152287143 . G C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.1096+21500G>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152287143G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24588;CSQ_gnomADg_AN=30688;CSQ_gnomADg_AF=0.801225;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.550 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:16,87:103:0.84466:65:-100:0.1197:15,36,3,12,7,14,17,44,6,13,7,16:100:100 +6 152287143 . G C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.1096+21500G>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152287143G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24588;CSQ_gnomADg_AN=30688;CSQ_gnomADg_AF=0.801225;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.550 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:16,87:103:0.84466:65:-100:0.1197:15,36,3,12,7,14,17,44,6,13,7,16:100:100 +6 152287143 . G C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.1102+21500G>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152287143G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24588;CSQ_gnomADg_AN=30688;CSQ_gnomADg_AF=0.801225;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.550 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:16,87:103:0.84466:65:-100:0.1197:15,36,3,12,7,14,17,44,6,13,7,16:100:100 +6 152287143 . G C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.1093+21500G>C;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152287143G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24588;CSQ_gnomADg_AN=30688;CSQ_gnomADg_AF=0.801225;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.550 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:16,87:103:0.84466:65:-100:0.1197:15,36,3,12,7,14,17,44,6,13,7,16:100:100 +6 152363092 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/7;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.1236-19034G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152363092G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1453;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0469315;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:R239int&ESR1:R239inta&ESR1:R411int&ESR1:R411inta&ESR1:R412int&ESR1:R412inta&ESR1:R414int&ESR1:R414inta;CSQ_CADD_PHRED=1.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,10:133:0.07519:65:-100:0.0828:1,0,1,2,3,3,17,39,9,25,15,28:100:100 +6 152363092 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.1236-19034G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152363092G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1453;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0469315;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:R239int&ESR1:R239inta&ESR1:R411int&ESR1:R411inta&ESR1:R412int&ESR1:R412inta&ESR1:R414int&ESR1:R414inta;CSQ_CADD_PHRED=1.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,10:133:0.07519:65:-100:0.0828:1,0,1,2,3,3,17,39,9,25,15,28:100:100 +6 152363092 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.1242-19034G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152363092G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1453;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0469315;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:R239int&ESR1:R239inta&ESR1:R411int&ESR1:R411inta&ESR1:R412int&ESR1:R412inta&ESR1:R414int&ESR1:R414inta;CSQ_CADD_PHRED=1.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,10:133:0.07519:65:-100:0.0828:1,0,1,2,3,3,17,39,9,25,15,28:100:100 +6 152363092 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.1233-19034G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152363092G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1453;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0469315;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:R239int&ESR1:R239inta&ESR1:R411int&ESR1:R411inta&ESR1:R412int&ESR1:R412inta&ESR1:R414int&ESR1:R414inta;CSQ_CADD_PHRED=1.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,10:133:0.07519:65:-100:0.0828:1,0,1,2,3,3,17,39,9,25,15,28:100:100 +6 152363191 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/7;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.1236-18935G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152363191G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13423;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.434401;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,44:112:0.39286:65:-100:0.0588:8,14,5,9,5,3,18,32,14,22,11,15:100:100 +6 152363191 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/9;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.1236-18935G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152363191G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13423;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.434401;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,44:112:0.39286:65:-100:0.0588:8,14,5,9,5,3,18,32,14,22,11,15:100:100 +6 152363191 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.1242-18935G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152363191G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13423;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.434401;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,44:112:0.39286:65:-100:0.0588:8,14,5,9,5,3,18,32,14,22,11,15:100:100 +6 152363191 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.1233-18935G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152363191G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13423;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.434401;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,44:112:0.39286:65:-100:0.0588:8,14,5,9,5,3,18,32,14,22,11,15:100:100 +6 152382420 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/7;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.1369+161A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152382420A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1241299;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7035;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.227582;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424;CSQ_COSMICncMuts=COSV52798424;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:G284int&ESR1:G284intd&ESR1:G456int&ESR1:G456intd&ESR1:G457int&ESR1:G457intd&ESR1:G459int&ESR1:G459intd&ESR1:V457int&ESR1:V457intd;CSQ_CADD_PHRED=5.387 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-100:0.1544:0,2,2,2,0,1,14,43,12,22,14,21:89.313:100 +6 152382420 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/9;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.1369+161A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152382420A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1241299;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7035;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.227582;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424;CSQ_COSMICncMuts=COSV52798424;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:G284int&ESR1:G284intd&ESR1:G456int&ESR1:G456intd&ESR1:G457int&ESR1:G457intd&ESR1:G459int&ESR1:G459intd&ESR1:V457int&ESR1:V457intd;CSQ_CADD_PHRED=5.387 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-100:0.1544:0,2,2,2,0,1,14,43,12,22,14,21:89.313:100 +6 152382420 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.1375+161A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152382420A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1241299;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7035;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.227582;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424;CSQ_COSMICncMuts=COSV52798424;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:G284int&ESR1:G284intd&ESR1:G456int&ESR1:G456intd&ESR1:G457int&ESR1:G457intd&ESR1:G459int&ESR1:G459intd&ESR1:V457int&ESR1:V457intd;CSQ_CADD_PHRED=5.387 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-100:0.1544:0,2,2,2,0,1,14,43,12,22,14,21:89.313:100 +6 152382420 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=ESR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.1366+161A>G;CSQ_HGVSp=.;CSQ_HGVSg=6:g.152382420A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1241299;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7035;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.227582;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424&COSV52798424;CSQ_COSMICncMuts=COSV52798424;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:G284int&ESR1:G284intd&ESR1:G456int&ESR1:G456intd&ESR1:G457int&ESR1:G457intd&ESR1:G459int&ESR1:G459intd&ESR1:V457int&ESR1:V457intd;CSQ_CADD_PHRED=5.387 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-100:0.1544:0,2,2,2,0,1,14,43,12,22,14,21:89.313:100 +6 152420095 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_000125.4;CSQ_HGVSc=NM_000125.4:c.1782G>A;CSQ_HGVSp=NP_000116.2:p.Thr594%3D;CSQ_HGVSg=6:g.152420095G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1263746;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Migraine_with_or_without_aura&_susceptibility_to&_1&Myocardial_infarction&_susceptibility_to&Estrogen_resistance_syndrome&Familial_cancer_of_breast&Migraine_with_or_without_aura&_susceptibility_to¬_provided;CSQ_gnomADg_AC=5562;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.180082;CSQ_gnomADe_AC=47531;CSQ_gnomADe_AN=245196;CSQ_gnomADe_AF=0.193849;CSQ_gnomADe_Hom=4843;CSQ_COSMICcMuts=COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:3UTR&ESR1:G284int&ESR1:G284inta&ESR1:T593T&ESR1:T594T&ESR1:T596T;CSQ_CADD_PHRED=0.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,55:169:0.32544:65:-100:0.214:17,20,4,5,2,7,35,57,14,23,12,28:100:100 +6 152420095 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001122742.2;CSQ_HGVSc=NM_001122742.2:c.1782G>A;CSQ_HGVSp=NP_001116214.1:p.Thr594%3D;CSQ_HGVSg=6:g.152420095G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1263746;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Migraine_with_or_without_aura&_susceptibility_to&_1&Myocardial_infarction&_susceptibility_to&Estrogen_resistance_syndrome&Familial_cancer_of_breast&Migraine_with_or_without_aura&_susceptibility_to¬_provided;CSQ_gnomADg_AC=5562;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.180082;CSQ_gnomADe_AC=47531;CSQ_gnomADe_AN=245196;CSQ_gnomADe_AF=0.193849;CSQ_gnomADe_Hom=4843;CSQ_COSMICcMuts=COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:3UTR&ESR1:G284int&ESR1:G284inta&ESR1:T593T&ESR1:T594T&ESR1:T596T;CSQ_CADD_PHRED=0.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,55:169:0.32544:65:-100:0.214:17,20,4,5,2,7,35,57,14,23,12,28:100:100 +6 152420095 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001291230.2;CSQ_HGVSc=NM_001291230.2:c.1788G>A;CSQ_HGVSp=NP_001278159.1:p.Thr596%3D;CSQ_HGVSg=6:g.152420095G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1263746;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Migraine_with_or_without_aura&_susceptibility_to&_1&Myocardial_infarction&_susceptibility_to&Estrogen_resistance_syndrome&Familial_cancer_of_breast&Migraine_with_or_without_aura&_susceptibility_to¬_provided;CSQ_gnomADg_AC=5562;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.180082;CSQ_gnomADe_AC=47531;CSQ_gnomADe_AN=245196;CSQ_gnomADe_AF=0.193849;CSQ_gnomADe_Hom=4843;CSQ_COSMICcMuts=COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:3UTR&ESR1:G284int&ESR1:G284inta&ESR1:T593T&ESR1:T594T&ESR1:T596T;CSQ_CADD_PHRED=0.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,55:169:0.32544:65:-100:0.214:17,20,4,5,2,7,35,57,14,23,12,28:100:100 +6 152420095 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ESR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001291241.2;CSQ_HGVSc=NM_001291241.2:c.1779G>A;CSQ_HGVSp=NP_001278170.1:p.Thr593%3D;CSQ_HGVSg=6:g.152420095G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1263746;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Migraine_with_or_without_aura&_susceptibility_to&_1&Myocardial_infarction&_susceptibility_to&Estrogen_resistance_syndrome&Familial_cancer_of_breast&Migraine_with_or_without_aura&_susceptibility_to¬_provided;CSQ_gnomADg_AC=5562;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.180082;CSQ_gnomADe_AC=47531;CSQ_gnomADe_AN=245196;CSQ_gnomADe_AF=0.193849;CSQ_gnomADe_Hom=4843;CSQ_COSMICcMuts=COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915&COSV52780915;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ESR1:3UTR&ESR1:G284int&ESR1:G284inta&ESR1:T593T&ESR1:T594T&ESR1:T596T;CSQ_CADD_PHRED=0.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,55:169:0.32544:65:-100:0.214:17,20,4,5,2,7,35,57,14,23,12,28:100:100 +6 157150496 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ARID1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/21;CSQ_INTRON=.;CSQ_Feature=NM_001371656.1;CSQ_HGVSc=NM_001371656.1:c.1927A>G;CSQ_HGVSp=NP_001358585.1:p.Ile643Val;CSQ_HGVSg=6:g.157150496A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126316;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Coffin-Siris_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=396;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0127915;CSQ_gnomADe_AC=3228;CSQ_gnomADe_AN=246220;CSQ_gnomADe_AF=0.0131102;CSQ_gnomADe_Hom=35;CSQ_COSMICcMuts=COSV51658039&COSV51658039&COSV51658039&COSV51658039;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=0.095;CSQ_Mastermind_MMID3=ARID1B:I560V&ARID1B:I643V;CSQ_CADD_PHRED=0.050 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,6:125:0.048:65:-95.9852:0.1438:1,2,1,0,2,0,20,39,12,20,12,22:75.371:100 +6 157150496 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ARID1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/20;CSQ_INTRON=.;CSQ_Feature=NM_001374828.1;CSQ_HGVSc=NM_001374828.1:c.1927A>G;CSQ_HGVSp=NP_001361757.1:p.Ile643Val;CSQ_HGVSg=6:g.157150496A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126316;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Coffin-Siris_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=396;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0127915;CSQ_gnomADe_AC=3228;CSQ_gnomADe_AN=246220;CSQ_gnomADe_AF=0.0131102;CSQ_gnomADe_Hom=35;CSQ_COSMICcMuts=COSV51658039&COSV51658039&COSV51658039&COSV51658039;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=0.095;CSQ_Mastermind_MMID3=ARID1B:I560V&ARID1B:I643V;CSQ_CADD_PHRED=0.050 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,6:125:0.048:65:-95.9852:0.1438:1,2,1,0,2,0,20,39,12,20,12,22:75.371:100 +6 157405930 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=ARID1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_001371656.1;CSQ_HGVSc=NM_001371656.1:c.2421G>A;CSQ_HGVSp=NP_001358585.1:p.Ala807%3D;CSQ_HGVSg=6:g.157405930G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126320;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Coffin-Siris_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=13855;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.449167;CSQ_gnomADe_AC=128607;CSQ_gnomADe_AN=246022;CSQ_gnomADe_AF=0.522746;CSQ_gnomADe_Hom=34393;CSQ_COSMICcMuts=COSV51659621&COSV51659621&COSV51659621&COSV51659621;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ARID1B:5UTR&ARID1B:A711A&ARID1B:A724A&ARID1B:A794A&ARID1B:A807A;CSQ_CADD_PHRED=0.998 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,70:131:0.53435:65:-100:0.1548:12,24,4,12,6,12,21,50,11,21,10,18:100:100 +6 157405930 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=ARID1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/20;CSQ_INTRON=.;CSQ_Feature=NM_001374828.1;CSQ_HGVSc=NM_001374828.1:c.2382G>A;CSQ_HGVSp=NP_001361757.1:p.Ala794%3D;CSQ_HGVSg=6:g.157405930G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126320;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Coffin-Siris_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=13855;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.449167;CSQ_gnomADe_AC=128607;CSQ_gnomADe_AN=246022;CSQ_gnomADe_AF=0.522746;CSQ_gnomADe_Hom=34393;CSQ_COSMICcMuts=COSV51659621&COSV51659621&COSV51659621&COSV51659621;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ARID1B:5UTR&ARID1B:A711A&ARID1B:A724A&ARID1B:A794A&ARID1B:A807A;CSQ_CADD_PHRED=0.998 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,70:131:0.53435:65:-100:0.1548:12,24,4,12,6,12,21,50,11,21,10,18:100:100 +6 157454270 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=ARID1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/21;CSQ_INTRON=.;CSQ_Feature=NM_001371656.1;CSQ_HGVSc=NM_001371656.1:c.2729G>A;CSQ_HGVSp=NP_001358585.1:p.Gly910Glu;CSQ_HGVSg=6:g.157454270G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=0.277;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,6:151:0.03974:65:-96.4889:0.1703:1,3,0,1,0,1,22,60,6,30,11,22:63.261:100 +6 157454270 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=ARID1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/20;CSQ_INTRON=.;CSQ_Feature=NM_001374828.1;CSQ_HGVSc=NM_001374828.1:c.2690G>A;CSQ_HGVSp=NP_001361757.1:p.Gly897Glu;CSQ_HGVSg=6:g.157454270G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=0.277;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,6:151:0.03974:65:-96.4889:0.1703:1,3,0,1,0,1,22,60,6,30,11,22:63.261:100 +6 161469774 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/27;CSQ_INTRON=.;CSQ_Feature=NM_001301072.2;CSQ_HGVSc=NM_001301072.2:c.470G>A;CSQ_HGVSp=NP_001288001.2:p.Arg157His;CSQ_HGVSg=6:g.161469774G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29689;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.959319;CSQ_gnomADe_AC=236276;CSQ_gnomADe_AN=245312;CSQ_gnomADe_AF=0.963165;CSQ_gnomADe_Hom=113845;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.127;CSQ_Mastermind_MMID3=MAP3K4:5UTR&MAP3K4:R157H;CSQ_CADD_PHRED=18.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,137:152:0.90132:65:-100:0.1602:21,42,17,24,9,24,22,46,18,25,12,29:100:100 +6 161469774 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/27;CSQ_INTRON=.;CSQ_Feature=NM_005922.4;CSQ_HGVSc=NM_005922.4:c.470G>A;CSQ_HGVSp=NP_005913.3:p.Arg157His;CSQ_HGVSg=6:g.161469774G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29689;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.959319;CSQ_gnomADe_AC=236276;CSQ_gnomADe_AN=245312;CSQ_gnomADe_AF=0.963165;CSQ_gnomADe_Hom=113845;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.127;CSQ_Mastermind_MMID3=MAP3K4:5UTR&MAP3K4:R157H;CSQ_CADD_PHRED=18.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,137:152:0.90132:65:-100:0.1602:21,42,17,24,9,24,22,46,18,25,12,29:100:100 +6 161469774 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/26;CSQ_INTRON=.;CSQ_Feature=NM_006724.4;CSQ_HGVSc=NM_006724.4:c.470G>A;CSQ_HGVSp=NP_006715.3:p.Arg157His;CSQ_HGVSg=6:g.161469774G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29689;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.959319;CSQ_gnomADe_AC=236276;CSQ_gnomADe_AN=245312;CSQ_gnomADe_AF=0.963165;CSQ_gnomADe_Hom=113845;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.127;CSQ_Mastermind_MMID3=MAP3K4:5UTR&MAP3K4:R157H;CSQ_CADD_PHRED=18.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,137:152:0.90132:65:-100:0.1602:21,42,17,24,9,24,22,46,18,25,12,29:100:100 +6 161469775 . TA T 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/27;CSQ_INTRON=.;CSQ_Feature=NM_001301072.2;CSQ_HGVSc=NM_001301072.2:c.479del;CSQ_HGVSp=NP_001288001.2:p.Asn160MetfsTer8;CSQ_HGVSg=6:g.161469783del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62329840&COSV62329840&COSV62329840&COSV62329840;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,11:153:0.0719:65:-100:0:1,2,1,1,2,4,24,44,19,25,13,28:96.816:100 +6 161469775 . TA T 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/27;CSQ_INTRON=.;CSQ_Feature=NM_005922.4;CSQ_HGVSc=NM_005922.4:c.479del;CSQ_HGVSp=NP_005913.3:p.Asn160MetfsTer8;CSQ_HGVSg=6:g.161469783del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62329840&COSV62329840&COSV62329840&COSV62329840;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,11:153:0.0719:65:-100:0:1,2,1,1,2,4,24,44,19,25,13,28:96.816:100 +6 161469775 . TA T 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/26;CSQ_INTRON=.;CSQ_Feature=NM_006724.4;CSQ_HGVSc=NM_006724.4:c.479del;CSQ_HGVSp=NP_006715.3:p.Asn160MetfsTer8;CSQ_HGVSg=6:g.161469783del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62329840&COSV62329840&COSV62329840&COSV62329840;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,11:153:0.0719:65:-100:0:1,2,1,1,2,4,24,44,19,25,13,28:96.816:100 +6 161470307 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/27;CSQ_INTRON=.;CSQ_Feature=NM_001301072.2;CSQ_HGVSc=NM_001301072.2:c.1003G>A;CSQ_HGVSp=NP_001288001.2:p.Val335Ile;CSQ_HGVSg=6:g.161470307G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=399;CSQ_gnomADg_AN=30988;CSQ_gnomADg_AF=0.012876;CSQ_gnomADe_AC=818;CSQ_gnomADe_AN=245792;CSQ_gnomADe_AF=0.00332802;CSQ_gnomADe_Hom=20;CSQ_COSMICcMuts=COSV99049997&COSV99049997&COSV99049997&COSV99049997;CSQ_COSMICncMuts=COSV99049997;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=MAP3K4:V335I;CSQ_CADD_PHRED=3.530 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,15:135:0.11111:65:-100:0.129:5,5,0,2,0,3,23,40,8,25,10,29:100:100 +6 161470307 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/27;CSQ_INTRON=.;CSQ_Feature=NM_005922.4;CSQ_HGVSc=NM_005922.4:c.1003G>A;CSQ_HGVSp=NP_005913.3:p.Val335Ile;CSQ_HGVSg=6:g.161470307G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=399;CSQ_gnomADg_AN=30988;CSQ_gnomADg_AF=0.012876;CSQ_gnomADe_AC=818;CSQ_gnomADe_AN=245792;CSQ_gnomADe_AF=0.00332802;CSQ_gnomADe_Hom=20;CSQ_COSMICcMuts=COSV99049997&COSV99049997&COSV99049997&COSV99049997;CSQ_COSMICncMuts=COSV99049997;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=MAP3K4:V335I;CSQ_CADD_PHRED=3.530 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,15:135:0.11111:65:-100:0.129:5,5,0,2,0,3,23,40,8,25,10,29:100:100 +6 161470307 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/26;CSQ_INTRON=.;CSQ_Feature=NM_006724.4;CSQ_HGVSc=NM_006724.4:c.1003G>A;CSQ_HGVSp=NP_006715.3:p.Val335Ile;CSQ_HGVSg=6:g.161470307G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=399;CSQ_gnomADg_AN=30988;CSQ_gnomADg_AF=0.012876;CSQ_gnomADe_AC=818;CSQ_gnomADe_AN=245792;CSQ_gnomADe_AF=0.00332802;CSQ_gnomADe_Hom=20;CSQ_COSMICcMuts=COSV99049997&COSV99049997&COSV99049997&COSV99049997;CSQ_COSMICncMuts=COSV99049997;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=MAP3K4:V335I;CSQ_CADD_PHRED=3.530 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,15:135:0.11111:65:-100:0.129:5,5,0,2,0,3,23,40,8,25,10,29:100:100 +6 161508880 . A C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/27;CSQ_INTRON=.;CSQ_Feature=NM_001301072.2;CSQ_HGVSc=NM_001301072.2:c.2717A>C;CSQ_HGVSp=NP_001288001.2:p.His906Pro;CSQ_HGVSg=6:g.161508880A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=582;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.018796;CSQ_gnomADe_AC=5774;CSQ_gnomADe_AN=246066;CSQ_gnomADe_AF=0.0234652;CSQ_gnomADe_Hom=105;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.195;CSQ_Mastermind_MMID3=MAP3K4:H359P&MAP3K4:H906P;CSQ_CADD_PHRED=14.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,8:152:0.05263:65:-100:0.1111:2,2,0,3,0,1,25,50,16,20,12,29:88.942:100 +6 161508880 . A C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/27;CSQ_INTRON=.;CSQ_Feature=NM_005922.4;CSQ_HGVSc=NM_005922.4:c.2717A>C;CSQ_HGVSp=NP_005913.3:p.His906Pro;CSQ_HGVSg=6:g.161508880A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=582;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.018796;CSQ_gnomADe_AC=5774;CSQ_gnomADe_AN=246066;CSQ_gnomADe_AF=0.0234652;CSQ_gnomADe_Hom=105;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.195;CSQ_Mastermind_MMID3=MAP3K4:H359P&MAP3K4:H906P;CSQ_CADD_PHRED=14.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,8:152:0.05263:65:-100:0.1111:2,2,0,3,0,1,25,50,16,20,12,29:88.942:100 +6 161508880 . A C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/26;CSQ_INTRON=.;CSQ_Feature=NM_006724.4;CSQ_HGVSc=NM_006724.4:c.2717A>C;CSQ_HGVSp=NP_006715.3:p.His906Pro;CSQ_HGVSg=6:g.161508880A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=582;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.018796;CSQ_gnomADe_AC=5774;CSQ_gnomADe_AN=246066;CSQ_gnomADe_AF=0.0234652;CSQ_gnomADe_Hom=105;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.195;CSQ_Mastermind_MMID3=MAP3K4:H359P&MAP3K4:H906P;CSQ_CADD_PHRED=14.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,8:152:0.05263:65:-100:0.1111:2,2,0,3,0,1,25,50,16,20,12,29:88.942:100 +6 161523788 . G A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/27;CSQ_INTRON=.;CSQ_Feature=NM_001301072.2;CSQ_HGVSc=NM_001301072.2:c.3821G>A;CSQ_HGVSp=NP_001288001.2:p.Arg1274Gln;CSQ_HGVSg=6:g.161523788G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=232766;CSQ_gnomADe_AF=1.71846e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62336396&COSV62336396&COSV62336396&COSV62336396;CSQ_COSMICncMuts=COSV62336396;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.266;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,11:107:0.1028:65:-100:0.2132:3,3,0,2,2,1,26,29,6,22,11,13:100:100 +6 161523788 . G A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/27;CSQ_INTRON=.;CSQ_Feature=NM_005922.4;CSQ_HGVSc=NM_005922.4:c.3833G>A;CSQ_HGVSp=NP_005913.3:p.Arg1278Gln;CSQ_HGVSg=6:g.161523788G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=232766;CSQ_gnomADe_AF=1.71846e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62336396&COSV62336396&COSV62336396&COSV62336396;CSQ_COSMICncMuts=COSV62336396;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.266;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,11:107:0.1028:65:-100:0.2132:3,3,0,2,2,1,26,29,6,22,11,13:100:100 +6 161523788 . G A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=MAP3K4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/26;CSQ_INTRON=.;CSQ_Feature=NM_006724.4;CSQ_HGVSc=NM_006724.4:c.3683G>A;CSQ_HGVSp=NP_006715.3:p.Arg1228Gln;CSQ_HGVSg=6:g.161523788G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=232766;CSQ_gnomADe_AF=1.71846e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62336396&COSV62336396&COSV62336396&COSV62336396;CSQ_COSMICncMuts=COSV62336396;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.266;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,11:107:0.1028:65:-100:0.2132:3,3,0,2,2,1,26,29,6,22,11,13:100:100 +6 161781225 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PARK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/12;CSQ_INTRON=.;CSQ_Feature=NM_004562.3;CSQ_HGVSc=NM_004562.3:c.1180G>A;CSQ_HGVSp=NP_004553.2:p.Asp394Asn;CSQ_HGVSg=6:g.161781225C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41222;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Lung_cancer&Autosomal_recessive_juvenile_Parkinson_disease_2¬_specified¬_provided;CSQ_gnomADg_AC=819;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0264415;CSQ_gnomADe_AC=6224;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.0252741;CSQ_gnomADe_Hom=119;CSQ_COSMICcMuts=COSV58225382&COSV58225382&COSV58225382&COSV58225382&COSV58225382;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.291;CSQ_Mastermind_MMID3=PRKN:D245N&PRKN:D366N&PRKN:D394N;CSQ_CADD_PHRED=19.66 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,13:128:0.10156:65:-100:0.0986:1,3,2,3,3,1,19,36,12,19,18,24:100:100 +6 161781225 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PARK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_013987.3;CSQ_HGVSc=NM_013987.3:c.1096G>A;CSQ_HGVSp=NP_054642.2:p.Asp366Asn;CSQ_HGVSg=6:g.161781225C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41222;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Lung_cancer&Autosomal_recessive_juvenile_Parkinson_disease_2¬_specified¬_provided;CSQ_gnomADg_AC=819;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0264415;CSQ_gnomADe_AC=6224;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.0252741;CSQ_gnomADe_Hom=119;CSQ_COSMICcMuts=COSV58225382&COSV58225382&COSV58225382&COSV58225382&COSV58225382;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.291;CSQ_Mastermind_MMID3=PRKN:D245N&PRKN:D366N&PRKN:D394N;CSQ_CADD_PHRED=19.66 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,13:128:0.10156:65:-100:0.0986:1,3,2,3,3,1,19,36,12,19,18,24:100:100 +6 161807855 . C G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=PARK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/12;CSQ_INTRON=.;CSQ_Feature=NM_004562.3;CSQ_HGVSc=NM_004562.3:c.1138G>C;CSQ_HGVSp=NP_004553.2:p.Val380Leu;CSQ_HGVSg=6:g.161807855C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41221;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Lung_cancer&Autosomal_recessive_juvenile_Parkinson_disease_2¬_specified¬_provided;CSQ_gnomADg_AC=4976;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.160984;CSQ_gnomADe_AC=40567;CSQ_gnomADe_AN=246236;CSQ_gnomADe_AF=0.164748;CSQ_gnomADe_Hom=3701;CSQ_COSMICcMuts=COSV58214160&COSV58214160&COSV58214160&COSV58214160&COSV58214160;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=0.281;CSQ_Mastermind_MMID3=PRKN:V231L&PRKN:V352L&PRKN:V380L;CSQ_CADD_PHRED=11.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,15:136:0.11029:65:-100:0.1169:2,6,0,1,3,3,20,43,11,20,13,29:100:100 +6 161807855 . C G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=PARK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/11;CSQ_INTRON=.;CSQ_Feature=NM_013987.3;CSQ_HGVSc=NM_013987.3:c.1054G>C;CSQ_HGVSp=NP_054642.2:p.Val352Leu;CSQ_HGVSg=6:g.161807855C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41221;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Lung_cancer&Autosomal_recessive_juvenile_Parkinson_disease_2¬_specified¬_provided;CSQ_gnomADg_AC=4976;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.160984;CSQ_gnomADe_AC=40567;CSQ_gnomADe_AN=246236;CSQ_gnomADe_AF=0.164748;CSQ_gnomADe_Hom=3701;CSQ_COSMICcMuts=COSV58214160&COSV58214160&COSV58214160&COSV58214160&COSV58214160;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=0.281;CSQ_Mastermind_MMID3=PRKN:V231L&PRKN:V352L&PRKN:V380L;CSQ_CADD_PHRED=11.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,15:136:0.11029:65:-100:0.1169:2,6,0,1,3,3,20,43,11,20,13,29:100:100 +6 162137147 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PARK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/11;CSQ_Feature=NM_004562.3;CSQ_HGVSc=NM_004562.3:c.871+69657G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.162137147C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1244140;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6079;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.196502;CSQ_gnomADe_AC=22604;CSQ_gnomADe_AN=222500;CSQ_gnomADe_AF=0.101591;CSQ_gnomADe_Hom=2245;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRKN:A142int&PRKN:A142intd&PRKN:A263int&PRKN:A263intd&PRKN:A291int&PRKN:A291intd;CSQ_CADD_PHRED=6.428 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,14:109:0.12844:65:-100:0.155:1,3,3,4,1,2,16,32,10,19,9,23:100:100 +6 162137147 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=PARK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/10;CSQ_Feature=NM_013987.3;CSQ_HGVSc=NM_013987.3:c.787+69657G>A;CSQ_HGVSp=.;CSQ_HGVSg=6:g.162137147C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1244140;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6079;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.196502;CSQ_gnomADe_AC=22604;CSQ_gnomADe_AN=222500;CSQ_gnomADe_AF=0.101591;CSQ_gnomADe_Hom=2245;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRKN:A142int&PRKN:A142intd&PRKN:A263int&PRKN:A263intd&PRKN:A291int&PRKN:A291intd;CSQ_CADD_PHRED=6.428 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,14:109:0.12844:65:-100:0.155:1,3,3,4,1,2,16,32,10,19,9,23:100:100 +6 162206838 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PARK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/12;CSQ_INTRON=.;CSQ_Feature=NM_004562.3;CSQ_HGVSc=NM_004562.3:c.837C>T;CSQ_HGVSp=NP_004553.2:p.His279%3D;CSQ_HGVSg=6:g.162206838G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=696161;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Lung_cancer&Autosomal_recessive_juvenile_Parkinson_disease_2¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=3.22872e-05;CSQ_gnomADe_AC=39;CSQ_gnomADe_AN=245892;CSQ_gnomADe_AF=0.000158606;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRKN:H130H&PRKN:H251H&PRKN:H279H;CSQ_CADD_PHRED=0.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,20:127:0.15748:65:-100:0.1645:1,10,3,2,1,3,24,47,11,17,5,23:100:100 +6 162206838 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=PARK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_013987.3;CSQ_HGVSc=NM_013987.3:c.753C>T;CSQ_HGVSp=NP_054642.2:p.His251%3D;CSQ_HGVSg=6:g.162206838G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=696161;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Lung_cancer&Autosomal_recessive_juvenile_Parkinson_disease_2¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=3.22872e-05;CSQ_gnomADe_AC=39;CSQ_gnomADe_AN=245892;CSQ_gnomADe_AF=0.000158606;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRKN:H130H&PRKN:H251H&PRKN:H279H;CSQ_CADD_PHRED=0.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,20:127:0.15748:65:-100:0.1645:1,10,3,2,1,3,24,47,11,17,5,23:100:100 +6 162394383 . T A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=PARK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_004562.3;CSQ_HGVSc=NM_004562.3:c.685A>T;CSQ_HGVSp=NP_004553.2:p.Ile229Phe;CSQ_HGVSg=6:g.162394383T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58199636&COSV58199636&COSV58199636&COSV58199636&COSV58199636&COSV58199636;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=0.696;CSQ_Mastermind_MMID3=PRKN:I229F;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,10:158:0.06329:65:-100:0.1505:1,3,2,1,2,1,23,40,16,32,19,28:98.57:100 +6 162394383 . T A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=PARK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_013987.3;CSQ_HGVSc=NM_013987.3:c.601A>T;CSQ_HGVSp=NP_054642.2:p.Ile201Phe;CSQ_HGVSg=6:g.162394383T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58199636&COSV58199636&COSV58199636&COSV58199636&COSV58199636&COSV58199636;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=0.696;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,10:158:0.06329:65:-100:0.1505:1,3,2,1,2,1,23,40,16,32,19,28:98.57:100 +6 162622197 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PARK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_004562.3;CSQ_HGVSc=NM_004562.3:c.500G>A;CSQ_HGVSp=NP_004553.2:p.Ser167Asn;CSQ_HGVSg=6:g.162622197C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41223;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Lung_cancer&Autosomal_recessive_juvenile_Parkinson_disease_2¬_specified¬_provided;CSQ_gnomADg_AC=1765;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0570127;CSQ_gnomADe_AC=17204;CSQ_gnomADe_AN=246004;CSQ_gnomADe_AF=0.0699338;CSQ_gnomADe_Hom=1882;CSQ_COSMICcMuts=COSV58202924&COSV58202924&COSV58202924&COSV58202924&COSV58202924&COSV58202924;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.164;CSQ_Mastermind_MMID3=PRKN:Q57int&PRKN:Q57inta&PRKN:S167N;CSQ_CADD_PHRED=15.67 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,15:111:0.13514:65:-100:0.0976:3,3,2,5,0,2,12,40,9,21,7,22:100:100 +6 162622197 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PARK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_013987.3;CSQ_HGVSc=NM_013987.3:c.500G>A;CSQ_HGVSp=NP_054642.2:p.Ser167Asn;CSQ_HGVSg=6:g.162622197C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41223;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Lung_cancer&Autosomal_recessive_juvenile_Parkinson_disease_2¬_specified¬_provided;CSQ_gnomADg_AC=1765;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0570127;CSQ_gnomADe_AC=17204;CSQ_gnomADe_AN=246004;CSQ_gnomADe_AF=0.0699338;CSQ_gnomADe_Hom=1882;CSQ_COSMICcMuts=COSV58202924&COSV58202924&COSV58202924&COSV58202924&COSV58202924&COSV58202924;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.164;CSQ_Mastermind_MMID3=PRKN:Q57int&PRKN:Q57inta&PRKN:S167N;CSQ_CADD_PHRED=15.67 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,15:111:0.13514:65:-100:0.0976:3,3,2,5,0,2,12,40,9,21,7,22:100:100 +7 2946461 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=CARD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/25;CSQ_INTRON=.;CSQ_Feature=NM_032415.7;CSQ_HGVSc=NM_032415.7:c.3276A>G;CSQ_HGVSp=NP_115791.3:p.Arg1092%3D;CSQ_HGVSg=7:g.2946461T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402477;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_CARD11_deficiency&BENTA_disease&Immunodeficiency_11b_with_atopic_dermatitis¬_specified¬_provided;CSQ_gnomADg_AC=16479;CSQ_gnomADg_AN=30810;CSQ_gnomADg_AF=0.534859;CSQ_gnomADe_AC=123594;CSQ_gnomADe_AN=242826;CSQ_gnomADe_AF=0.508982;CSQ_gnomADe_Hom=31951;CSQ_COSMICcMuts=COSV67797057;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CARD11:R1092R;CSQ_CADD_PHRED=2.520 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,126:157:0.80255:65:-100:0.1604:18,38,10,22,13,25,21,52,12,28,14,30:100:100 +7 2953038 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=CARD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/25;CSQ_INTRON=.;CSQ_Feature=NM_032415.7;CSQ_HGVSc=NM_032415.7:c.2902G>A;CSQ_HGVSp=NP_115791.3:p.Ala968Thr;CSQ_HGVSg=7:g.2953038C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=244564;CSQ_gnomADe_AF=1.22667e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV67799074;CSQ_COSMICncMuts=COSV67799074;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.027;CSQ_Mastermind_MMID3=CARD11:A968T;CSQ_CADD_PHRED=16.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,25:150:0.16667:65:-100:0.2021:5,9,2,4,2,3,26,63,13,19,10,19:100:100 +7 2957005 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=CARD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/25;CSQ_INTRON=.;CSQ_Feature=NM_032415.7;CSQ_HGVSc=NM_032415.7:c.2622A>G;CSQ_HGVSp=NP_115791.3:p.Pro874%3D;CSQ_HGVSg=7:g.2957005T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1168236;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_CARD11_deficiency&BENTA_disease;CSQ_gnomADg_AC=9830;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.318082;CSQ_gnomADe_AC=73318;CSQ_gnomADe_AN=239740;CSQ_gnomADe_AF=0.305823;CSQ_gnomADe_Hom=13642;CSQ_COSMICcMuts=COSV62753816;CSQ_COSMICncMuts=COSV62753816;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CARD11:P874P;CSQ_CADD_PHRED=0.334 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,57:143:0.3986:65:-100:0.2186:7,21,5,15,1,8,20,51,14,27,11,20:100:100 +7 2963884 . C T 100 PASS DP=154;CSQ_Allele=T;CSQ_SYMBOL=CARD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/25;CSQ_INTRON=.;CSQ_Feature=NM_032415.7;CSQ_HGVSc=NM_032415.7:c.1923G>A;CSQ_HGVSp=NP_115791.3:p.Arg641%3D;CSQ_HGVSg=7:g.2963884C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=791707;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_CARD11_deficiency&BENTA_disease&Immunodeficiency_11b_with_atopic_dermatitis¬_specified;CSQ_gnomADg_AC=225;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00726697;CSQ_gnomADe_AC=414;CSQ_gnomADe_AN=246218;CSQ_gnomADe_AF=0.00168144;CSQ_gnomADe_Hom=5;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.12;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.194 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,11:154:0.07143:65:-100:0.1299:0,5,0,2,0,4,26,45,15,35,7,26:100:100 +7 2974165 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=CARD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/25;CSQ_INTRON=.;CSQ_Feature=NM_032415.7;CSQ_HGVSc=NM_032415.7:c.1440G>A;CSQ_HGVSp=NP_115791.3:p.Ser480%3D;CSQ_HGVSg=7:g.2974165C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=473928;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_CARD11_deficiency&BENTA_disease;CSQ_gnomADg_AC=1978;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0639095;CSQ_gnomADe_AC=4032;CSQ_gnomADe_AN=246120;CSQ_gnomADe_AF=0.0163823;CSQ_gnomADe_Hom=416;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.022 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,17:148:0.11486:65:-100:0.1243:3,2,0,5,3,4,16,53,11,30,12,26:100:100 +7 6036980 . G C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=PMS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/15;CSQ_INTRON=.;CSQ_Feature=NM_000535.7;CSQ_HGVSc=NM_000535.7:c.780C>G;CSQ_HGVSp=NP_000526.2:p.Ser260%3D;CSQ_HGVSg=7:g.6036980G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=36693;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Endometrial_carcinoma&Lynch_syndrome&Colorectal_cancer&_hereditary_nonpolyposis&_type_4&Hereditary_cancer-predisposing_syndrome&Mismatch_repair_cancer_syndrome_4&Hereditary_nonpolyposis_colorectal_neoplasms¬_specified¬_provided;CSQ_gnomADg_AC=25137;CSQ_gnomADg_AN=30638;CSQ_gnomADg_AF=0.820452;CSQ_gnomADe_AC=196619;CSQ_gnomADe_AN=245310;CSQ_gnomADe_AF=0.801512;CSQ_gnomADe_Hom=79497;CSQ_COSMICcMuts=COSV56223185&COSV56223185&COSV56223185&COSV56223185;CSQ_COSMICncMuts=COSV56223185;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PMS2:5UTR&PMS2:S125S&PMS2:S154S&PMS2:S157S&PMS2:S260S&PMS2:S69S;CSQ_CADD_PHRED=0.168 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,115:115:1:65:-100:0.1786:18,32,14,23,7,21,18,32,14,23,7,21:100:100 +7 13931182 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*4309C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931182G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24601;CSQ_gnomADg_AN=30706;CSQ_gnomADg_AF=0.801179;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.576 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,104:117:0.88889:65:-100:0.1702:15,43,12,15,5,14,16,50,14,17,5,15:100:100 +7 13931182 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*4309C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931182G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24601;CSQ_gnomADg_AN=30706;CSQ_gnomADg_AF=0.801179;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.576 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,104:117:0.88889:65:-100:0.1702:15,43,12,15,5,14,16,50,14,17,5,15:100:100 +7 13931182 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*4309C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931182G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24601;CSQ_gnomADg_AN=30706;CSQ_gnomADg_AF=0.801179;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.576 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,104:117:0.88889:65:-100:0.1702:15,43,12,15,5,14,16,50,14,17,5,15:100:100 +7 13931182 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.6241C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931182G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24601;CSQ_gnomADg_AN=30706;CSQ_gnomADg_AF=0.801179;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.576 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,104:117:0.88889:65:-100:0.1702:15,43,12,15,5,14,16,50,14,17,5,15:100:100 +7 13931303 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*4188A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931303T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=237;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.00766197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692;CSQ_COSMICncMuts=COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.595 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,9:146:0.06164:65:-100:0.131:3,5,0,1,0,0,24,58,14,25,10,15:100:100 +7 13931303 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*4188A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931303T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=237;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.00766197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692;CSQ_COSMICncMuts=COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.595 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,9:146:0.06164:65:-100:0.131:3,5,0,1,0,0,24,58,14,25,10,15:100:100 +7 13931303 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*4188A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931303T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=237;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.00766197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692;CSQ_COSMICncMuts=COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.595 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,9:146:0.06164:65:-100:0.131:3,5,0,1,0,0,24,58,14,25,10,15:100:100 +7 13931303 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.6120A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931303T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=237;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.00766197;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692;CSQ_COSMICncMuts=COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692&COSV54148692;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.595 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,9:146:0.06164:65:-100:0.131:3,5,0,1,0,0,24,58,14,25,10,15:100:100 +7 13931716 . G C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*3775C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931716G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=44;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00142202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,13:133:0.09774:65:-100:0.1529:2,8,0,1,0,2,16,50,12,21,14,20:100:100 +7 13931716 . G C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*3775C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931716G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=44;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00142202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,13:133:0.09774:65:-100:0.1529:2,8,0,1,0,2,16,50,12,21,14,20:100:100 +7 13931716 . G C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*3775C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931716G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=44;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00142202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,13:133:0.09774:65:-100:0.1529:2,8,0,1,0,2,16,50,12,21,14,20:100:100 +7 13931716 . G C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.5707C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931716G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=44;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00142202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,13:133:0.09774:65:-100:0.1529:2,8,0,1,0,2,16,50,12,21,14,20:100:100 +7 13931776 . A G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*3715T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00781502;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,11:131:0.08397:65:-100:0.1088:2,4,0,3,0,2,18,44,16,21,6,26:100:100 +7 13931776 . A G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*3715T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00781502;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,11:131:0.08397:65:-100:0.1088:2,4,0,3,0,2,18,44,16,21,6,26:100:100 +7 13931776 . A G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*3715T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00781502;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,11:131:0.08397:65:-100:0.1088:2,4,0,3,0,2,18,44,16,21,6,26:100:100 +7 13931776 . A G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.5647T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00781502;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,11:131:0.08397:65:-100:0.1088:2,4,0,3,0,2,18,44,16,21,6,26:100:100 +7 13931982 . T A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*3509A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931982T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25095;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.811401;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.972 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,110:130:0.84615:65:-100:0.1447:14,52,9,16,7,12,16,63,10,19,8,14:100:100 +7 13931982 . T A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*3509A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931982T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25095;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.811401;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.972 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,110:130:0.84615:65:-100:0.1447:14,52,9,16,7,12,16,63,10,19,8,14:100:100 +7 13931982 . T A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*3509A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931982T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25095;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.811401;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.972 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,110:130:0.84615:65:-100:0.1447:14,52,9,16,7,12,16,63,10,19,8,14:100:100 +7 13931982 . T A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.5441A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13931982T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25095;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.811401;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.972 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,110:130:0.84615:65:-100:0.1447:14,52,9,16,7,12,16,63,10,19,8,14:100:100 +7 13932256 . ATTAAG A 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*3230_*3234del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932262_13932266del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,13:155:0.08387:65:-100:0:0,2,2,4,2,3,21,50,14,31,17,22:100:100 +7 13932256 . ATTAAG A 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*3230_*3234del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932262_13932266del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,13:155:0.08387:65:-100:0:0,2,2,4,2,3,21,50,14,31,17,22:100:100 +7 13932256 . ATTAAG A 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*3230_*3234del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932262_13932266del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,13:155:0.08387:65:-100:0:0,2,2,4,2,3,21,50,14,31,17,22:100:100 +7 13932256 . ATTAAG A 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.5162_5166del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932262_13932266del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,13:155:0.08387:65:-100:0:0,2,2,4,2,3,21,50,14,31,17,22:100:100 +7 13932318 . A G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*3173T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932318A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=237;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00765207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.170 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,16:167:0.09581:65:-100:0.1814:1,5,1,6,2,1,24,53,16,31,16,27:100:100 +7 13932318 . A G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*3173T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932318A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=237;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00765207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.170 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,16:167:0.09581:65:-100:0.1814:1,5,1,6,2,1,24,53,16,31,16,27:100:100 +7 13932318 . A G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*3173T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932318A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=237;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00765207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.170 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,16:167:0.09581:65:-100:0.1814:1,5,1,6,2,1,24,53,16,31,16,27:100:100 +7 13932318 . A G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.5105T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932318A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=237;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00765207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.170 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,16:167:0.09581:65:-100:0.1814:1,5,1,6,2,1,24,53,16,31,16,27:100:100 +7 13932601 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*2890G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932601C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20451;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.661759;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.108 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,87:140:0.62143:65:-100:0.1566:14,29,9,12,5,18,21,53,14,21,7,24:100:100 +7 13932601 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*2890G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932601C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20451;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.661759;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.108 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,87:140:0.62143:65:-100:0.1566:14,29,9,12,5,18,21,53,14,21,7,24:100:100 +7 13932601 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*2890G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932601C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20451;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.661759;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.108 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,87:140:0.62143:65:-100:0.1566:14,29,9,12,5,18,21,53,14,21,7,24:100:100 +7 13932601 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.4822G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932601C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20451;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.661759;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.108 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,87:140:0.62143:65:-100:0.1566:14,29,9,12,5,18,21,53,14,21,7,24:100:100 +7 13932625 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*2866C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932625G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=241;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.00778776;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.239 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,12:147:0.08163:65:-100:0.1404:0,8,0,3,0,1,18,64,10,22,7,26:100:100 +7 13932625 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*2866C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932625G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=241;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.00778776;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.239 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,12:147:0.08163:65:-100:0.1404:0,8,0,3,0,1,18,64,10,22,7,26:100:100 +7 13932625 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*2866C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932625G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=241;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.00778776;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.239 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,12:147:0.08163:65:-100:0.1404:0,8,0,3,0,1,18,64,10,22,7,26:100:100 +7 13932625 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.4798C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932625G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=241;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.00778776;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.239 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,12:147:0.08163:65:-100:0.1404:0,8,0,3,0,1,18,64,10,22,7,26:100:100 +7 13932966 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*2525T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932966A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00781502;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,14:138:0.10145:65:-100:0.1375:2,3,1,5,1,2,25,40,14,21,16,22:100:100 +7 13932966 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*2525T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932966A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00781502;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,14:138:0.10145:65:-100:0.1375:2,3,1,5,1,2,25,40,14,21,16,22:100:100 +7 13932966 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*2525T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932966A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00781502;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,14:138:0.10145:65:-100:0.1375:2,3,1,5,1,2,25,40,14,21,16,22:100:100 +7 13932966 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.4457T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13932966A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00781502;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,14:138:0.10145:65:-100:0.1375:2,3,1,5,1,2,25,40,14,21,16,22:100:100 +7 13933370 . T C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*2121A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13933370T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3789;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.122542;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,17:134:0.12687:65:-100:0.1572:2,3,3,7,1,1,24,40,11,27,12,20:100:100 +7 13933370 . T C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*2121A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13933370T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3789;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.122542;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,17:134:0.12687:65:-100:0.1572:2,3,3,7,1,1,24,40,11,27,12,20:100:100 +7 13933370 . T C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*2121A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13933370T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3789;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.122542;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,17:134:0.12687:65:-100:0.1572:2,3,3,7,1,1,24,40,11,27,12,20:100:100 +7 13933370 . T C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.4053A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13933370T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3789;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.122542;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,17:134:0.12687:65:-100:0.1572:2,3,3,7,1,1,24,40,11,27,12,20:100:100 +7 13933772 . G T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*1719C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13933772G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-100:0.2183:0,2,1,2,1,3,13,24,14,21,16,23:100:100 +7 13933772 . G T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*1719C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13933772G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-100:0.2183:0,2,1,2,1,3,13,24,14,21,16,23:100:100 +7 13933772 . G T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*1719C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13933772G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-100:0.2183:0,2,1,2,1,3,13,24,14,21,16,23:100:100 +7 13933772 . G T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.3651C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13933772G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-100:0.2183:0,2,1,2,1,3,13,24,14,21,16,23:100:100 +7 13934238 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*1253A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934238T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=240;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00775094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878;CSQ_COSMICncMuts=COSV54142878&COSV54142878;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1813:0,4,1,2,3,3,18,55,12,17,9,20:100:100 +7 13934238 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*1253A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934238T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=240;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00775094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878;CSQ_COSMICncMuts=COSV54142878&COSV54142878;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1813:0,4,1,2,3,3,18,55,12,17,9,20:100:100 +7 13934238 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*1253A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934238T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=240;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00775094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878;CSQ_COSMICncMuts=COSV54142878&COSV54142878;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1813:0,4,1,2,3,3,18,55,12,17,9,20:100:100 +7 13934238 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.3185A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934238T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=240;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00775094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878&COSV54142878;CSQ_COSMICncMuts=COSV54142878&COSV54142878;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1813:0,4,1,2,3,3,18,55,12,17,9,20:100:100 +7 13934358 . A T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*1133T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934358A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9693;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.313669;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354;CSQ_COSMICncMuts=COSV54151354&COSV54151354;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:3UTR;CSQ_CADD_PHRED=17.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,37:146:0.25342:65:-100:0.1844:4,17,3,5,3,5,29,56,9,23,13,16:100:100 +7 13934358 . A T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*1133T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934358A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9693;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.313669;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354;CSQ_COSMICncMuts=COSV54151354&COSV54151354;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:3UTR;CSQ_CADD_PHRED=17.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,37:146:0.25342:65:-100:0.1844:4,17,3,5,3,5,29,56,9,23,13,16:100:100 +7 13934358 . A T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*1133T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934358A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9693;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.313669;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354;CSQ_COSMICncMuts=COSV54151354&COSV54151354;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:3UTR;CSQ_CADD_PHRED=17.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,37:146:0.25342:65:-100:0.1844:4,17,3,5,3,5,29,56,9,23,13,16:100:100 +7 13934358 . A T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.3065T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934358A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9693;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.313669;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354&COSV54151354;CSQ_COSMICncMuts=COSV54151354&COSV54151354;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,37:146:0.25342:65:-100:0.1844:4,17,3,5,3,5,29,56,9,23,13,16:100:100 +7 13934688 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*803T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934688A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12690;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.410255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,50:150:0.33333:65:-100:0.1018:10,17,5,6,4,8,24,52,16,19,12,27:100:100 +7 13934688 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*803T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934688A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12690;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.410255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,50:150:0.33333:65:-100:0.1018:10,17,5,6,4,8,24,52,16,19,12,27:100:100 +7 13934688 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*803T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934688A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12690;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.410255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,50:150:0.33333:65:-100:0.1018:10,17,5,6,4,8,24,52,16,19,12,27:100:100 +7 13934688 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.2735T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13934688A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12690;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.410255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,50:150:0.33333:65:-100:0.1018:10,17,5,6,4,8,24,52,16,19,12,27:100:100 +7 13935013 . GT G 100 PASS DP=144;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*477del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13935020del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,20:144:0.13889:65:-100:0:1,8,3,2,4,2,18,47,12,26,15,26:100:100 +7 13935013 . GT G 100 PASS DP=144;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*477del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13935020del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,20:144:0.13889:65:-100:0:1,8,3,2,4,2,18,47,12,26,15,26:100:100 +7 13935013 . GT G 100 PASS DP=144;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*477del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13935020del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,20:144:0.13889:65:-100:0:1,8,3,2,4,2,18,47,12,26,15,26:100:100 +7 13935013 . GT G 100 PASS DP=144;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.2409del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13935020del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,20:144:0.13889:65:-100:0:1,8,3,2,4,2,18,47,12,26,15,26:100:100 +7 13935307 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.*184G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13935307C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2867;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0926752;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:3UTR;CSQ_CADD_PHRED=15.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,8:137:0.05839:65:-100:0.1104:3,1,1,3,0,0,20,34,18,27,18,20:81.25:100 +7 13935307 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.*184G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13935307C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2867;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0926752;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:3UTR;CSQ_CADD_PHRED=15.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,8:137:0.05839:65:-100:0.1104:3,1,1,3,0,0,20,34,18,27,18,20:81.25:100 +7 13935307 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.*184G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13935307C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2867;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0926752;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:3UTR;CSQ_CADD_PHRED=15.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,8:137:0.05839:65:-100:0.1104:3,1,1,3,0,0,20,34,18,27,18,20:81.25:100 +7 13935307 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.2116G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13935307C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2867;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0926752;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,8:137:0.05839:65:-100:0.1104:3,1,1,3,0,0,20,34,18,27,18,20:81.25:100 +7 13946283 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-59T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946283A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=234;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00755472;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510;CSQ_COSMICncMuts=COSV54137510&COSV54137510&COSV54137510;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,10:156:0.0641:65:-100:0.1236:1,4,1,3,0,1,19,50,17,29,10,31:100:100 +7 13946283 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-59T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946283A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=234;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00755472;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510;CSQ_COSMICncMuts=COSV54137510&COSV54137510&COSV54137510;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,10:156:0.0641:65:-100:0.1236:1,4,1,3,0,1,19,50,17,29,10,31:100:100 +7 13946283 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-59T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946283A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=234;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00755472;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510;CSQ_COSMICncMuts=COSV54137510&COSV54137510&COSV54137510;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,10:156:0.0641:65:-100:0.1236:1,4,1,3,0,1,19,50,17,29,10,31:100:100 +7 13946283 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1439-59T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946283A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=234;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00755472;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510&COSV54137510;CSQ_COSMICncMuts=COSV54137510&COSV54137510&COSV54137510;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,10:156:0.0641:65:-100:0.1236:1,4,1,3,0,1,19,50,17,29,10,31:100:100 +7 13946300 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-76G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946300C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=414;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.013366;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,6:150:0.04:65:-96.1084:0.1228:2,1,1,1,0,1,24,41,18,28,9,30:78.059:100 +7 13946300 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-76G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946300C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=414;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.013366;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,6:150:0.04:65:-96.1084:0.1228:2,1,1,1,0,1,24,41,18,28,9,30:78.059:100 +7 13946300 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-76G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946300C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=414;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.013366;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,6:150:0.04:65:-96.1084:0.1228:2,1,1,1,0,1,24,41,18,28,9,30:78.059:100 +7 13946300 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1439-76G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946300C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=414;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.013366;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,6:150:0.04:65:-96.1084:0.1228:2,1,1,1,0,1,24,41,18,28,9,30:78.059:100 +7 13946316 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-92G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946316C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3921;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.126737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008;CSQ_COSMICncMuts=COSV54139008&COSV54139008&COSV54139008;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=1.382 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,5:139:0.03597:65:-96.1084:0.1824:1,1,0,1,1,1,20,38,14,31,11,25:91.059:100 +7 13946316 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-92G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946316C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3921;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.126737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008;CSQ_COSMICncMuts=COSV54139008&COSV54139008&COSV54139008;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=1.382 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,5:139:0.03597:65:-96.1084:0.1824:1,1,0,1,1,1,20,38,14,31,11,25:91.059:100 +7 13946316 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-92G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946316C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3921;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.126737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008;CSQ_COSMICncMuts=COSV54139008&COSV54139008&COSV54139008;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=1.382 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,5:139:0.03597:65:-96.1084:0.1824:1,1,0,1,1,1,20,38,14,31,11,25:91.059:100 +7 13946316 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1439-92G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946316C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3921;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.126737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008&COSV54139008;CSQ_COSMICncMuts=COSV54139008&COSV54139008&COSV54139008;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=1.382 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,5:139:0.03597:65:-96.1084:0.1824:1,1,0,1,1,1,20,38,14,31,11,25:91.059:100 +7 13946639 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-415C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946639G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=235;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.00759829;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520;CSQ_COSMICncMuts=COSV54137520&COSV54137520&COSV54137520;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.553 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,21:141:0.14894:65:-100:0.1242:4,8,1,4,1,3,21,48,10,25,14,23:100:100 +7 13946639 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-415C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946639G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=235;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.00759829;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520;CSQ_COSMICncMuts=COSV54137520&COSV54137520&COSV54137520;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.553 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,21:141:0.14894:65:-100:0.1242:4,8,1,4,1,3,21,48,10,25,14,23:100:100 +7 13946639 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-415C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946639G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=235;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.00759829;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520;CSQ_COSMICncMuts=COSV54137520&COSV54137520&COSV54137520;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.553 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,21:141:0.14894:65:-100:0.1242:4,8,1,4,1,3,21,48,10,25,14,23:100:100 +7 13946639 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1439-415C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946639G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=235;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.00759829;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520&COSV54137520;CSQ_COSMICncMuts=COSV54137520&COSV54137520&COSV54137520;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.553 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,21:141:0.14894:65:-100:0.1242:4,8,1,4,1,3,21,48,10,25,14,23:100:100 +7 13946687 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-463A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946687T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2309;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0746524;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585;CSQ_COSMICncMuts=COSV54144585&COSV54144585&COSV54144585;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=1.946 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-100:0.1111:1,4,1,0,0,1,21,53,14,19,11,18:97.613:100 +7 13946687 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-463A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946687T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2309;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0746524;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585;CSQ_COSMICncMuts=COSV54144585&COSV54144585&COSV54144585;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=1.946 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-100:0.1111:1,4,1,0,0,1,21,53,14,19,11,18:97.613:100 +7 13946687 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-463A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946687T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2309;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0746524;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585;CSQ_COSMICncMuts=COSV54144585&COSV54144585&COSV54144585;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=1.946 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-100:0.1111:1,4,1,0,0,1,21,53,14,19,11,18:97.613:100 +7 13946687 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1439-463A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946687T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2309;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0746524;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585&COSV54144585;CSQ_COSMICncMuts=COSV54144585&COSV54144585&COSV54144585;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=1.946 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-100:0.1111:1,4,1,0,0,1,21,53,14,19,11,18:97.613:100 +7 13946694 . T A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-470A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946694T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3909;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.126423;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020;CSQ_COSMICncMuts=COSV54139020&COSV54139020&COSV54139020;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=0.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1457:2,3,2,0,0,1,24,48,13,18,11,15:94.842:100 +7 13946694 . T A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-470A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946694T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3909;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.126423;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020;CSQ_COSMICncMuts=COSV54139020&COSV54139020&COSV54139020;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=0.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1457:2,3,2,0,0,1,24,48,13,18,11,15:94.842:100 +7 13946694 . T A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-470A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946694T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3909;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.126423;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020;CSQ_COSMICncMuts=COSV54139020&COSV54139020&COSV54139020;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=0.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1457:2,3,2,0,0,1,24,48,13,18,11,15:94.842:100 +7 13946694 . T A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1439-470A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946694T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3909;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.126423;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020&COSV54139020;CSQ_COSMICncMuts=COSV54139020&COSV54139020&COSV54139020;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=0.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1457:2,3,2,0,0,1,24,48,13,18,11,15:94.842:100 +7 13946860 . G T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-636C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946860G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=113;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.00365412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,19:126:0.15079:65:-100:0.1544:3,6,3,4,0,3,31,39,9,19,12,16:100:100 +7 13946860 . G T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-636C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946860G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=113;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.00365412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,19:126:0.15079:65:-100:0.1544:3,6,3,4,0,3,31,39,9,19,12,16:100:100 +7 13946860 . G T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-636C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946860G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=113;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.00365412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,19:126:0.15079:65:-100:0.1544:3,6,3,4,0,3,31,39,9,19,12,16:100:100 +7 13946860 . G T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1438+558C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13946860G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=113;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.00365412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,19:126:0.15079:65:-100:0.1544:3,6,3,4,0,3,31,39,9,19,12,16:100:100 +7 13947289 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-1065C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13947289G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9267;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.300019;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529;CSQ_COSMICncMuts=COSV54137529&COSV54137529&COSV54137529;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=5.353 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,35:166:0.21084:65:-100:0.117:7,14,3,3,3,5,29,64,9,16,18,30:100:100 +7 13947289 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-1065C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13947289G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9267;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.300019;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529;CSQ_COSMICncMuts=COSV54137529&COSV54137529&COSV54137529;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=5.353 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,35:166:0.21084:65:-100:0.117:7,14,3,3,3,5,29,64,9,16,18,30:100:100 +7 13947289 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-1065C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13947289G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9267;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.300019;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529;CSQ_COSMICncMuts=COSV54137529&COSV54137529&COSV54137529;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=5.353 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,35:166:0.21084:65:-100:0.117:7,14,3,3,3,5,29,64,9,16,18,30:100:100 +7 13947289 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1438+129C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13947289G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9267;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.300019;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529&COSV54137529;CSQ_COSMICncMuts=COSV54137529&COSV54137529&COSV54137529;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211inta&ETV1:G256int&ETV1:G256inta&ETV1:G274int&ETV1:G274inta&ETV1:G291int&ETV1:G291inta&ETV1:G296int&ETV1:G296inta&ETV1:G298int&ETV1:G298inta&ETV1:G314int&ETV1:G314inta;CSQ_CADD_PHRED=5.353 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,35:166:0.21084:65:-100:0.117:7,14,3,3,3,5,29,64,9,16,18,30:100:100 +7 13947605 . G GT 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.887-1382dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13947610dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11315;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.366917;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0:1,5,3,1,2,2,18,54,9,24,5,21:100:100 +7 13947605 . G GT 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.887-1382dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13947610dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11315;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.366917;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0:1,5,3,1,2,2,18,54,9,24,5,21:100:100 +7 13947605 . G GT 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.941-1382dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13947610dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11315;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.366917;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0:1,5,3,1,2,2,18,54,9,24,5,21:100:100 +7 13947605 . G GT 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1375-125dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13947610dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11315;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.366917;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0:1,5,3,1,2,2,18,54,9,24,5,21:100:100 +7 13948026 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.886+1231G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948026C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2392;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.077391;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236;CSQ_COSMICncMuts=COSV54137236&COSV54137236&COSV54137236;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=1.508 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,21:123:0.17073:65:-100:0.1689:0,8,0,6,1,6,16,36,6,31,10,24:100:100 +7 13948026 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.886+1231G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948026C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2392;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.077391;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236;CSQ_COSMICncMuts=COSV54137236&COSV54137236&COSV54137236;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=1.508 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,21:123:0.17073:65:-100:0.1689:0,8,0,6,1,6,16,36,6,31,10,24:100:100 +7 13948026 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.940+1231G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948026C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2392;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.077391;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236;CSQ_COSMICncMuts=COSV54137236&COSV54137236&COSV54137236;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=1.508 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,21:123:0.17073:65:-100:0.1689:0,8,0,6,1,6,16,36,6,31,10,24:100:100 +7 13948026 . C G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1375-545G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948026C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2392;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.077391;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236&COSV54137236;CSQ_COSMICncMuts=COSV54137236&COSV54137236&COSV54137236;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=1.508 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,21:123:0.17073:65:-100:0.1689:0,8,0,6,1,6,16,36,6,31,10,24:100:100 +7 13948179 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.886+1078C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948179G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20844;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.675481;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.249 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,92:140:0.65714:65:-100:0.125:17,37,8,12,8,10,24,53,11,19,13,20:100:100 +7 13948179 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.886+1078C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948179G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20844;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.675481;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.249 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,92:140:0.65714:65:-100:0.125:17,37,8,12,8,10,24,53,11,19,13,20:100:100 +7 13948179 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.940+1078C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948179G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20844;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.675481;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.249 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,92:140:0.65714:65:-100:0.125:17,37,8,12,8,10,24,53,11,19,13,20:100:100 +7 13948179 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1375-698C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948179G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20844;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.675481;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.249 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,92:140:0.65714:65:-100:0.125:17,37,8,12,8,10,24,53,11,19,13,20:100:100 +7 13948243 . A C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.886+1014T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948243A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=69;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00222998;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.597 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0.0816:3,6,1,6,1,1,21,42,11,28,8,25:100:100 +7 13948243 . A C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.886+1014T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948243A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=69;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00222998;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.597 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0.0816:3,6,1,6,1,1,21,42,11,28,8,25:100:100 +7 13948243 . A C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.940+1014T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948243A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=69;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00222998;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.597 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0.0816:3,6,1,6,1,1,21,42,11,28,8,25:100:100 +7 13948243 . A C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1375-762T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948243A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=69;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00222998;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.597 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,18:135:0.13333:65:-100:0.0816:3,6,1,6,1,1,21,42,11,28,8,25:100:100 +7 13948517 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.886+740A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948517T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8197;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.266067;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052;CSQ_COSMICncMuts=COSV54139052&COSV54139052&COSV54139052;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=6.368 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,24:143:0.16783:65:-100:0.1637:5,4,3,5,1,6,20,49,14,23,10,27:100:100 +7 13948517 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.886+740A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948517T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8197;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.266067;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052;CSQ_COSMICncMuts=COSV54139052&COSV54139052&COSV54139052;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=6.368 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,24:143:0.16783:65:-100:0.1637:5,4,3,5,1,6,20,49,14,23,10,27:100:100 +7 13948517 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.940+740A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948517T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8197;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.266067;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052;CSQ_COSMICncMuts=COSV54139052&COSV54139052&COSV54139052;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=6.368 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,24:143:0.16783:65:-100:0.1637:5,4,3,5,1,6,20,49,14,23,10,27:100:100 +7 13948517 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1374+740A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948517T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8197;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.266067;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052&COSV54139052;CSQ_COSMICncMuts=COSV54139052&COSV54139052&COSV54139052;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=6.368 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,24:143:0.16783:65:-100:0.1637:5,4,3,5,1,6,20,49,14,23,10,27:100:100 +7 13948709 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.886+548A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948709T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,9:103:0.08738:65:-100:0.1694:1,2,1,2,0,3,15,22,12,25,9,20:100:100 +7 13948709 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.886+548A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948709T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,9:103:0.08738:65:-100:0.1694:1,2,1,2,0,3,15,22,12,25,9,20:100:100 +7 13948709 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.940+548A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948709T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,9:103:0.08738:65:-100:0.1694:1,2,1,2,0,3,15,22,12,25,9,20:100:100 +7 13948709 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1374+548A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948709T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,9:103:0.08738:65:-100:0.1694:1,2,1,2,0,3,15,22,12,25,9,20:100:100 +7 13948719 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.886+538A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948719T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12515;CSQ_gnomADg_AN=30212;CSQ_gnomADg_AF=0.414239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=15.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,51:107:0.47664:65:-100:0.1955:6,13,3,13,6,10,14,26,9,30,10,18:100:100 +7 13948719 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.886+538A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948719T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12515;CSQ_gnomADg_AN=30212;CSQ_gnomADg_AF=0.414239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=15.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,51:107:0.47664:65:-100:0.1955:6,13,3,13,6,10,14,26,9,30,10,18:100:100 +7 13948719 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.940+538A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948719T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12515;CSQ_gnomADg_AN=30212;CSQ_gnomADg_AF=0.414239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=15.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,51:107:0.47664:65:-100:0.1955:6,13,3,13,6,10,14,26,9,30,10,18:100:100 +7 13948719 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.1374+538A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13948719T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12515;CSQ_gnomADg_AN=30212;CSQ_gnomADg_AF=0.414239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:G211int&ETV1:G211intd&ETV1:G256int&ETV1:G256intd&ETV1:G274int&ETV1:G274intd&ETV1:G291int&ETV1:G291intd&ETV1:G296int&ETV1:G296intd&ETV1:G298int&ETV1:G298intd&ETV1:G314int&ETV1:G314intd;CSQ_CADD_PHRED=15.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,51:107:0.47664:65:-100:0.1955:6,13,3,13,6,10,14,26,9,30,10,18:100:100 +7 13972012 . C A 100 PASS DP=186;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.501-638G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13972012C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.205 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,10:186:0.05376:65:-100:0.1389:0,4,0,2,2,2,25,75,16,24,19,27:100:100 +7 13972012 . C A 100 PASS DP=186;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.501-638G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13972012C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.205 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,10:186:0.05376:65:-100:0.1389:0,4,0,2,2,2,25,75,16,24,19,27:100:100 +7 13972012 . C A 100 PASS DP=186;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.555-638G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13972012C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.205 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,10:186:0.05376:65:-100:0.1389:0,4,0,2,2,2,25,75,16,24,19,27:100:100 +7 13972012 . C A 100 PASS DP=186;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.989-638G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13972012C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.205 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,10:186:0.05376:65:-100:0.1389:0,4,0,2,2,2,25,75,16,24,19,27:100:100 +7 13972307 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.501-933G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13972307C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10262;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.33234;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092;CSQ_COSMICncMuts=COSV54136092&COSV54136092;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127inta&ETV1:R145int&ETV1:R145inta&ETV1:R167int&ETV1:R167inta&ETV1:R169int&ETV1:R169inta&ETV1:R185int&ETV1:R185inta&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=19.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,28:150:0.18667:65:-100:0.0798:5,8,3,6,2,4,29,44,12,28,12,25:100:100 +7 13972307 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.501-933G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13972307C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10262;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.33234;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092;CSQ_COSMICncMuts=COSV54136092&COSV54136092;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127inta&ETV1:R145int&ETV1:R145inta&ETV1:R167int&ETV1:R167inta&ETV1:R169int&ETV1:R169inta&ETV1:R185int&ETV1:R185inta&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=19.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,28:150:0.18667:65:-100:0.0798:5,8,3,6,2,4,29,44,12,28,12,25:100:100 +7 13972307 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.555-933G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13972307C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10262;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.33234;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092;CSQ_COSMICncMuts=COSV54136092&COSV54136092;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127inta&ETV1:R145int&ETV1:R145inta&ETV1:R167int&ETV1:R167inta&ETV1:R169int&ETV1:R169inta&ETV1:R185int&ETV1:R185inta&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=19.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,28:150:0.18667:65:-100:0.0798:5,8,3,6,2,4,29,44,12,28,12,25:100:100 +7 13972307 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.989-933G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13972307C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10262;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.33234;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092&COSV54136092;CSQ_COSMICncMuts=COSV54136092&COSV54136092;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127inta&ETV1:R145int&ETV1:R145inta&ETV1:R167int&ETV1:R167inta&ETV1:R169int&ETV1:R169inta&ETV1:R185int&ETV1:R185inta&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=19.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,28:150:0.18667:65:-100:0.0798:5,8,3,6,2,4,29,44,12,28,12,25:100:100 +7 13974381 . C G 100 PASS DP=186;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.500+952G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974381C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1668;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.053869;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069;CSQ_COSMICncMuts=COSV54139069&COSV54139069&COSV54139069;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=0.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,17:186:0.0914:65:-100:0.1143:4,4,5,1,0,3,28,72,20,31,10,25:100:100 +7 13974381 . C G 100 PASS DP=186;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.500+952G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974381C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1668;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.053869;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069;CSQ_COSMICncMuts=COSV54139069&COSV54139069&COSV54139069;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=0.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,17:186:0.0914:65:-100:0.1143:4,4,5,1,0,3,28,72,20,31,10,25:100:100 +7 13974381 . C G 100 PASS DP=186;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.554+952G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974381C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1668;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.053869;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069;CSQ_COSMICncMuts=COSV54139069&COSV54139069&COSV54139069;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=0.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,17:186:0.0914:65:-100:0.1143:4,4,5,1,0,3,28,72,20,31,10,25:100:100 +7 13974381 . C G 100 PASS DP=186;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.988+952G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974381C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1668;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.053869;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069&COSV54139069;CSQ_COSMICncMuts=COSV54139069&COSV54139069&COSV54139069;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=0.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,17:186:0.0914:65:-100:0.1143:4,4,5,1,0,3,28,72,20,31,10,25:100:100 +7 13974461 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.500+872G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974461C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7813;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.252995;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150;CSQ_COSMICncMuts=COSV54136150&COSV54136150&COSV54136150;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=0.947 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,12:181:0.0663:65:-100:0.1214:3,3,2,1,2,1,31,68,13,31,13,25:100:100 +7 13974461 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.500+872G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974461C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7813;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.252995;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150;CSQ_COSMICncMuts=COSV54136150&COSV54136150&COSV54136150;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=0.947 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,12:181:0.0663:65:-100:0.1214:3,3,2,1,2,1,31,68,13,31,13,25:100:100 +7 13974461 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.554+872G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974461C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7813;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.252995;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150;CSQ_COSMICncMuts=COSV54136150&COSV54136150&COSV54136150;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=0.947 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,12:181:0.0663:65:-100:0.1214:3,3,2,1,2,1,31,68,13,31,13,25:100:100 +7 13974461 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.988+872G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974461C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7813;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.252995;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150&COSV54136150;CSQ_COSMICncMuts=COSV54136150&COSV54136150&COSV54136150;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=0.947 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,12:181:0.0663:65:-100:0.1214:3,3,2,1,2,1,31,68,13,31,13,25:100:100 +7 13974562 . A G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.500+771T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974562A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1328;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.0428608;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637;CSQ_COSMICncMuts=COSV54148637&COSV54148637&COSV54148637;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.414 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,6:168:0.03571:65:-95.9852:0.1158:1,0,0,2,3,0,28,50,14,36,15,25:61.612:100 +7 13974562 . A G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.500+771T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974562A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1328;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.0428608;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637;CSQ_COSMICncMuts=COSV54148637&COSV54148637&COSV54148637;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.414 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,6:168:0.03571:65:-95.9852:0.1158:1,0,0,2,3,0,28,50,14,36,15,25:61.612:100 +7 13974562 . A G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.554+771T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974562A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1328;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.0428608;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637;CSQ_COSMICncMuts=COSV54148637&COSV54148637&COSV54148637;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.414 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,6:168:0.03571:65:-95.9852:0.1158:1,0,0,2,3,0,28,50,14,36,15,25:61.612:100 +7 13974562 . A G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.988+771T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974562A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1328;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.0428608;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637&COSV54148637;CSQ_COSMICncMuts=COSV54148637&COSV54148637&COSV54148637;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.414 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,6:168:0.03571:65:-95.9852:0.1158:1,0,0,2,3,0,28,50,14,36,15,25:61.612:100 +7 13974563 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.500+770C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974563G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8889;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.287484;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286;CSQ_COSMICncMuts=COSV54137286&COSV54137286&COSV54137286;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=2.255 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,78:165:0.47273:65:-100:0.1361:16,24,8,15,3,12,28,48,13,35,15,26:100:100 +7 13974563 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.500+770C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974563G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8889;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.287484;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286;CSQ_COSMICncMuts=COSV54137286&COSV54137286&COSV54137286;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=2.255 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,78:165:0.47273:65:-100:0.1361:16,24,8,15,3,12,28,48,13,35,15,26:100:100 +7 13974563 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.554+770C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974563G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8889;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.287484;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286;CSQ_COSMICncMuts=COSV54137286&COSV54137286&COSV54137286;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=2.255 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,78:165:0.47273:65:-100:0.1361:16,24,8,15,3,12,28,48,13,35,15,26:100:100 +7 13974563 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.988+770C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974563G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8889;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.287484;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286&COSV54137286;CSQ_COSMICncMuts=COSV54137286&COSV54137286&COSV54137286;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=2.255 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,78:165:0.47273:65:-100:0.1361:16,24,8,15,3,12,28,48,13,35,15,26:100:100 +7 13974876 . T C 100 PASS DP=173;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.500+457A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974876T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1690;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0546042;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081;CSQ_COSMICncMuts=COSV54139081&COSV54139081&COSV54139081;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=18.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,12:173:0.06936:65:-100:0.1036:2,4,3,1,0,2,28,55,24,28,11,27:100:100 +7 13974876 . T C 100 PASS DP=173;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.500+457A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974876T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1690;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0546042;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081;CSQ_COSMICncMuts=COSV54139081&COSV54139081&COSV54139081;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=18.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,12:173:0.06936:65:-100:0.1036:2,4,3,1,0,2,28,55,24,28,11,27:100:100 +7 13974876 . T C 100 PASS DP=173;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.554+457A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974876T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1690;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0546042;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081;CSQ_COSMICncMuts=COSV54139081&COSV54139081&COSV54139081;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=18.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,12:173:0.06936:65:-100:0.1036:2,4,3,1,0,2,28,55,24,28,11,27:100:100 +7 13974876 . T C 100 PASS DP=173;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.988+457A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13974876T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1690;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0546042;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081&COSV54139081;CSQ_COSMICncMuts=COSV54139081&COSV54139081&COSV54139081;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R127int&ETV1:R127intd&ETV1:R145int&ETV1:R145intd&ETV1:R167int&ETV1:R167intd&ETV1:R169int&ETV1:R169intd&ETV1:R185int&ETV1:R185intd&ETV1:R82int&ETV1:R82inta;CSQ_CADD_PHRED=18.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,12:173:0.06936:65:-100:0.1036:2,4,3,1,0,2,28,55,24,28,11,27:100:100 +7 13975066 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.500+267G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975066C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000161457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1548:3,4,1,2,1,2,18,49,11,22,7,24:100:100 +7 13975066 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.500+267G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975066C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000161457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1548:3,4,1,2,1,2,18,49,11,22,7,24:100:100 +7 13975066 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.554+267G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975066C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000161457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1548:3,4,1,2,1,2,18,49,11,22,7,24:100:100 +7 13975066 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.988+267G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975066C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000161457;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1548:3,4,1,2,1,2,18,49,11,22,7,24:100:100 +7 13975472 . T TG 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=7/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.360dup;CSQ_HGVSp=NP_001156620.1:p.Thr121HisfsTer24;CSQ_HGVSg=7:g.13975479dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121;CSQ_COSMICncMuts=COSV54137121&COSV54137121;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,13:145:0.08966:65:-100:0:2,3,2,1,1,4,18,47,20,26,11,22:100:100 +7 13975472 . T TG 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.360dup;CSQ_HGVSp=NP_001156621.1:p.Thr121HisfsTer24;CSQ_HGVSg=7:g.13975479dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121;CSQ_COSMICncMuts=COSV54137121&COSV54137121;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,13:145:0.08966:65:-100:0:2,3,2,1,1,4,18,47,20,26,11,22:100:100 +7 13975472 . T TG 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=8/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.414dup;CSQ_HGVSp=NP_004947.2:p.Thr139HisfsTer24;CSQ_HGVSg=7:g.13975479dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121;CSQ_COSMICncMuts=COSV54137121&COSV54137121;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,13:145:0.08966:65:-100:0:2,3,2,1,1,4,18,47,20,26,11,22:100:100 +7 13975472 . T TG 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=8/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.848dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975479dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121&COSV54137121;CSQ_COSMICncMuts=COSV54137121&COSV54137121;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,13:145:0.08966:65:-100:0:2,3,2,1,1,4,18,47,20,26,11,22:100:100 +7 13975574 . T A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.312-53A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975574T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1871;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.0605658;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092;CSQ_COSMICncMuts=COSV54139092;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,16:151:0.10596:65:-100:0.1272:4,3,2,1,3,3,34,41,10,25,18,23:100:100 +7 13975574 . T A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.312-53A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975574T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1871;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.0605658;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092;CSQ_COSMICncMuts=COSV54139092;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,16:151:0.10596:65:-100:0.1272:4,3,2,1,3,3,34,41,10,25,18,23:100:100 +7 13975574 . T A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.366-53A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975574T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1871;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.0605658;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092;CSQ_COSMICncMuts=COSV54139092;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,16:151:0.10596:65:-100:0.1272:4,3,2,1,3,3,34,41,10,25,18,23:100:100 +7 13975574 . T A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.800-53A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975574T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1871;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.0605658;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092&COSV54139092;CSQ_COSMICncMuts=COSV54139092;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,16:151:0.10596:65:-100:0.1272:4,3,2,1,3,3,34,41,10,25,18,23:100:100 +7 13975769 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.312-248T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975769A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9623;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.311283;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299;CSQ_COSMICncMuts=COSV54137299;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=1.731 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,63:149:0.42282:65:-100:0.0859:6,20,7,13,6,11,14,55,16,29,11,24:100:100 +7 13975769 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.312-248T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975769A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9623;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.311283;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299;CSQ_COSMICncMuts=COSV54137299;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=1.731 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,63:149:0.42282:65:-100:0.0859:6,20,7,13,6,11,14,55,16,29,11,24:100:100 +7 13975769 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.366-248T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975769A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9623;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.311283;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299;CSQ_COSMICncMuts=COSV54137299;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=1.731 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,63:149:0.42282:65:-100:0.0859:6,20,7,13,6,11,14,55,16,29,11,24:100:100 +7 13975769 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.800-248T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13975769A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9623;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.311283;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299&COSV54137299;CSQ_COSMICncMuts=COSV54137299;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=1.731 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,63:149:0.42282:65:-100:0.0859:6,20,7,13,6,11,14,55,16,29,11,24:100:100 +7 13976097 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.312-576C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976097G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-100:0.1563:0,2,1,1,0,3,18,36,15,27,17,22:97.345:100 +7 13976097 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.312-576C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976097G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-100:0.1563:0,2,1,1,0,3,18,36,15,27,17,22:97.345:100 +7 13976097 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.366-576C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976097G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-100:0.1563:0,2,1,1,0,3,18,36,15,27,17,22:97.345:100 +7 13976097 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.800-576C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976097G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-100:0.1563:0,2,1,1,0,3,18,36,15,27,17,22:97.345:100 +7 13976258 . G T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.312-737C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976258G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9258;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.299786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307;CSQ_COSMICncMuts=COSV54137307;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=0.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,52:138:0.37681:65:-100:0.1154:10,13,9,4,6,10,31,40,13,21,11,22:100:100 +7 13976258 . G T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.312-737C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976258G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9258;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.299786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307;CSQ_COSMICncMuts=COSV54137307;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=0.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,52:138:0.37681:65:-100:0.1154:10,13,9,4,6,10,31,40,13,21,11,22:100:100 +7 13976258 . G T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.366-737C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976258G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9258;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.299786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307;CSQ_COSMICncMuts=COSV54137307;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=0.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,52:138:0.37681:65:-100:0.1154:10,13,9,4,6,10,31,40,13,21,11,22:100:100 +7 13976258 . G T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.800-737C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976258G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9258;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.299786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307&COSV54137307;CSQ_COSMICncMuts=COSV54137307;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=0.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,52:138:0.37681:65:-100:0.1154:10,13,9,4,6,10,31,40,13,21,11,22:100:100 +7 13976391 . C T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.312-870G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976391C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=31;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00100129;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.295 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,12:110:0.10909:65:-100:0.1667:1,2,0,5,1,3,15,34,8,21,12,20:100:100 +7 13976391 . C T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.312-870G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976391C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=31;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00100129;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.295 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,12:110:0.10909:65:-100:0.1667:1,2,0,5,1,3,15,34,8,21,12,20:100:100 +7 13976391 . C T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.366-870G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976391C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=31;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00100129;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.295 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,12:110:0.10909:65:-100:0.1667:1,2,0,5,1,3,15,34,8,21,12,20:100:100 +7 13976391 . C T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.800-870G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976391C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=31;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00100129;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.295 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,12:110:0.10909:65:-100:0.1667:1,2,0,5,1,3,15,34,8,21,12,20:100:100 +7 13976833 . T G 100 PASS DP=174;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.312-1312A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976833T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8872;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.286786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315;CSQ_COSMICncMuts=COSV54137315;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=4.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,70:174:0.4023:65:-100:0.1212:15,26,4,11,8,6,33,59,14,30,16,22:100:100 +7 13976833 . T G 100 PASS DP=174;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.312-1312A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976833T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8872;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.286786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315;CSQ_COSMICncMuts=COSV54137315;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=4.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,70:174:0.4023:65:-100:0.1212:15,26,4,11,8,6,33,59,14,30,16,22:100:100 +7 13976833 . T G 100 PASS DP=174;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.366-1312A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976833T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8872;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.286786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315;CSQ_COSMICncMuts=COSV54137315;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=4.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,70:174:0.4023:65:-100:0.1212:15,26,4,11,8,6,33,59,14,30,16,22:100:100 +7 13976833 . T G 100 PASS DP=174;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.800-1312A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976833T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8872;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.286786;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315&COSV54137315;CSQ_COSMICncMuts=COSV54137315;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=4.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,70:174:0.4023:65:-100:0.1212:15,26,4,11,8,6,33,59,14,30,16,22:100:100 +7 13976995 . C A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.312-1474G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976995C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9092;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.293954;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324;CSQ_COSMICncMuts=COSV54137324;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=1.957 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,61:158:0.38608:65:-100:0.092:10,22,4,13,4,8,22,59,11,33,10,23:100:100 +7 13976995 . C A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.312-1474G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976995C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9092;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.293954;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324;CSQ_COSMICncMuts=COSV54137324;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=1.957 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,61:158:0.38608:65:-100:0.092:10,22,4,13,4,8,22,59,11,33,10,23:100:100 +7 13976995 . C A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.366-1474G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976995C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9092;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.293954;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324;CSQ_COSMICncMuts=COSV54137324;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=1.957 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,61:158:0.38608:65:-100:0.092:10,22,4,13,4,8,22,59,11,33,10,23:100:100 +7 13976995 . C A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.800-1474G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13976995C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9092;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.293954;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324&COSV54137324;CSQ_COSMICncMuts=COSV54137324;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104inta&ETV1:S106int&ETV1:S106inta&ETV1:S122int&ETV1:S122inta&ETV1:S64int&ETV1:S64inta&ETV1:S82int&ETV1:S82inta;CSQ_CADD_PHRED=1.957 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,61:158:0.38608:65:-100:0.092:10,22,4,13,4,8,22,59,11,33,10,23:100:100 +7 13978006 . A C 100 PASS DP=155;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.311+736T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978006A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9604;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.310548;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340;CSQ_COSMICncMuts=COSV54137340;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=9.971 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,62:155:0.4:65:-100:0.0663:10,21,7,11,3,10,28,45,14,31,12,25:100:100 +7 13978006 . A C 100 PASS DP=155;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.311+736T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978006A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9604;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.310548;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340;CSQ_COSMICncMuts=COSV54137340;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=9.971 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,62:155:0.4:65:-100:0.0663:10,21,7,11,3,10,28,45,14,31,12,25:100:100 +7 13978006 . A C 100 PASS DP=155;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.365+736T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978006A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9604;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.310548;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340;CSQ_COSMICncMuts=COSV54137340;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=9.971 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,62:155:0.4:65:-100:0.0663:10,21,7,11,3,10,28,45,14,31,12,25:100:100 +7 13978006 . A C 100 PASS DP=155;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.799+736T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978006A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9604;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.310548;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340&COSV54137340;CSQ_COSMICncMuts=COSV54137340;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=9.971 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,62:155:0.4:65:-100:0.0663:10,21,7,11,3,10,28,45,14,31,12,25:100:100 +7 13978095 . GAC G 100 PASS DP=165;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.311+645_311+646del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978097_13978098del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1832;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0591884;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100;CSQ_COSMICncMuts=COSV54139100;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,14:165:0.08485:65:-100:0:0,7,2,2,0,3,24,59,15,30,10,28:100:100 +7 13978095 . GAC G 100 PASS DP=165;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.311+645_311+646del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978097_13978098del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1832;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0591884;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100;CSQ_COSMICncMuts=COSV54139100;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,14:165:0.08485:65:-100:0:0,7,2,2,0,3,24,59,15,30,10,28:100:100 +7 13978095 . GAC G 100 PASS DP=165;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.365+645_365+646del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978097_13978098del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1832;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0591884;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100;CSQ_COSMICncMuts=COSV54139100;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,14:165:0.08485:65:-100:0:0,7,2,2,0,3,24,59,15,30,10,28:100:100 +7 13978095 . GAC G 100 PASS DP=165;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.799+645_799+646del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978097_13978098del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1832;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0591884;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100&COSV54139100;CSQ_COSMICncMuts=COSV54139100;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.046 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,14:165:0.08485:65:-100:0:0,7,2,2,0,3,24,59,15,30,10,28:100:100 +7 13978645 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.311+97G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9453;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.306716;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351;CSQ_COSMICncMuts=COSV54137351;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=0.567 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,46:134:0.34328:65:-100:0.141:4,20,3,5,4,10,22,60,7,18,6,21:100:100 +7 13978645 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.311+97G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9453;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.306716;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351;CSQ_COSMICncMuts=COSV54137351;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=0.567 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,46:134:0.34328:65:-100:0.141:4,20,3,5,4,10,22,60,7,18,6,21:100:100 +7 13978645 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.365+97G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9453;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.306716;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351;CSQ_COSMICncMuts=COSV54137351;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=0.567 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,46:134:0.34328:65:-100:0.141:4,20,3,5,4,10,22,60,7,18,6,21:100:100 +7 13978645 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.799+97G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9453;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.306716;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351&COSV54137351;CSQ_COSMICncMuts=COSV54137351;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=0.567 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,46:134:0.34328:65:-100:0.141:4,20,3,5,4,10,22,60,7,18,6,21:100:100 +7 13978648 . T A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.311+94A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978648T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9460;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.306665;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356;CSQ_COSMICncMuts=COSV54137356;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=4.910 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,45:131:0.34351:65:-100:0.1494:5,18,3,5,4,10,23,55,8,18,6,21:100:100 +7 13978648 . T A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.311+94A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978648T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9460;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.306665;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356;CSQ_COSMICncMuts=COSV54137356;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=4.910 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,45:131:0.34351:65:-100:0.1494:5,18,3,5,4,10,23,55,8,18,6,21:100:100 +7 13978648 . T A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.365+94A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978648T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9460;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.306665;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356;CSQ_COSMICncMuts=COSV54137356;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=4.910 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,45:131:0.34351:65:-100:0.1494:5,18,3,5,4,10,23,55,8,18,6,21:100:100 +7 13978648 . T A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.799+94A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978648T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9460;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.306665;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356&COSV54137356;CSQ_COSMICncMuts=COSV54137356;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:R82int&ETV1:R82intd&ETV1:S104int&ETV1:S104intd&ETV1:S106int&ETV1:S106intd&ETV1:S122int&ETV1:S122intd&ETV1:S64int&ETV1:S64intd&ETV1:S82int&ETV1:S82intd;CSQ_CADD_PHRED=4.910 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,45:131:0.34351:65:-100:0.1494:5,18,3,5,4,10,23,55,8,18,6,21:100:100 +7 13978734 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=splice_region_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.311+8C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978734G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=792071;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=114;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00368217;CSQ_gnomADe_AC=1103;CSQ_gnomADe_AN=244160;CSQ_gnomADe_AF=0.00451753;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039;CSQ_COSMICncMuts=COSV54150039;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.703 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,24:157:0.15287:65:-100:0.0925:3,13,1,5,1,1,21,54,16,32,14,20:100:100 +7 13978734 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=splice_region_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.311+8C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978734G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=792071;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=114;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00368217;CSQ_gnomADe_AC=1103;CSQ_gnomADe_AN=244160;CSQ_gnomADe_AF=0.00451753;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039;CSQ_COSMICncMuts=COSV54150039;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.703 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,24:157:0.15287:65:-100:0.0925:3,13,1,5,1,1,21,54,16,32,14,20:100:100 +7 13978734 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=splice_region_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.365+8C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978734G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=792071;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=114;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00368217;CSQ_gnomADe_AC=1103;CSQ_gnomADe_AN=244160;CSQ_gnomADe_AF=0.00451753;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039;CSQ_COSMICncMuts=COSV54150039;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.703 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,24:157:0.15287:65:-100:0.0925:3,13,1,5,1,1,21,54,16,32,14,20:100:100 +7 13978734 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=splice_region_variant&intron_variant&non_coding_transcript_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.799+8C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978734G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=792071;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=114;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00368217;CSQ_gnomADe_AC=1103;CSQ_gnomADe_AN=244160;CSQ_gnomADe_AF=0.00451753;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039&COSV54150039;CSQ_COSMICncMuts=COSV54150039;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.703 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,24:157:0.15287:65:-100:0.0925:3,13,1,5,1,1,21,54,16,32,14,20:100:100 +7 13978809 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/13;CSQ_INTRON=.;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.244A>G;CSQ_HGVSp=NP_001156620.1:p.Ser82Gly;CSQ_HGVSg=7:g.13978809T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9685;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.31337;CSQ_gnomADe_AC=85322;CSQ_gnomADe_AN=244774;CSQ_gnomADe_AF=0.348575;CSQ_gnomADe_Hom=15492;CSQ_COSMICcMuts=COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900;CSQ_COSMICncMuts=COSV54136900;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=0.135;CSQ_Mastermind_MMID3=ETV1:S100G&ETV1:S42G&ETV1:S60G&ETV1:S82G&ETV1:S84G;CSQ_CADD_PHRED=18.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,57:132:0.43182:65:-100:0.1141:8,22,3,15,2,7,19,52,9,28,6,18:100:100 +7 13978809 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/12;CSQ_INTRON=.;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.244A>G;CSQ_HGVSp=NP_001156621.1:p.Ser82Gly;CSQ_HGVSg=7:g.13978809T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9685;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.31337;CSQ_gnomADe_AC=85322;CSQ_gnomADe_AN=244774;CSQ_gnomADe_AF=0.348575;CSQ_gnomADe_Hom=15492;CSQ_COSMICcMuts=COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900;CSQ_COSMICncMuts=COSV54136900;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=0.135;CSQ_Mastermind_MMID3=ETV1:S100G&ETV1:S42G&ETV1:S60G&ETV1:S82G&ETV1:S84G;CSQ_CADD_PHRED=18.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,57:132:0.43182:65:-100:0.1141:8,22,3,15,2,7,19,52,9,28,6,18:100:100 +7 13978809 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/14;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.298A>G;CSQ_HGVSp=NP_004947.2:p.Ser100Gly;CSQ_HGVSg=7:g.13978809T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9685;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.31337;CSQ_gnomADe_AC=85322;CSQ_gnomADe_AN=244774;CSQ_gnomADe_AF=0.348575;CSQ_gnomADe_Hom=15492;CSQ_COSMICcMuts=COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900;CSQ_COSMICncMuts=COSV54136900;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=0.135;CSQ_Mastermind_MMID3=ETV1:S100G&ETV1:S42G&ETV1:S60G&ETV1:S82G&ETV1:S84G;CSQ_CADD_PHRED=18.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,57:132:0.43182:65:-100:0.1141:8,22,3,15,2,7,19,52,9,28,6,18:100:100 +7 13978809 . T C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/15;CSQ_INTRON=.;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.732A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13978809T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9685;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.31337;CSQ_gnomADe_AC=85322;CSQ_gnomADe_AN=244774;CSQ_gnomADe_AF=0.348575;CSQ_gnomADe_Hom=15492;CSQ_COSMICcMuts=COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900&COSV54136900;CSQ_COSMICncMuts=COSV54136900;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,57:132:0.43182:65:-100:0.1141:8,22,3,15,2,7,19,52,9,28,6,18:100:100 +7 13979164 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-293T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979164A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1692;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0546441;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,11:128:0.08594:65:-100:0.1409:2,6,0,1,1,1,17,48,17,21,6,19:100:100 +7 13979164 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-293T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979164A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1692;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0546441;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,11:128:0.08594:65:-100:0.1409:2,6,0,1,1,1,17,48,17,21,6,19:100:100 +7 13979164 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-293T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979164A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1692;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0546441;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,11:128:0.08594:65:-100:0.1409:2,6,0,1,1,1,17,48,17,21,6,19:100:100 +7 13979164 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-293T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979164A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1692;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0546441;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,11:128:0.08594:65:-100:0.1409:2,6,0,1,1,1,17,48,17,21,6,19:100:100 +7 13979225 . GA AC 100 PASS DP=142;CSQ_Allele=AC;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-355_182-354delinsGT;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979225_13979226delinsAC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,61:142:0.42958:65:-100:0:11,21,9,7,5,8,50,108,34,36,24,36:100:100 +7 13979225 . GA AC 100 PASS DP=142;CSQ_Allele=AC;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-355_182-354delinsGT;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979225_13979226delinsAC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,61:142:0.42958:65:-100:0:11,21,9,7,5,8,50,108,34,36,24,36:100:100 +7 13979225 . GA AC 100 PASS DP=142;CSQ_Allele=AC;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-355_236-354delinsGT;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979225_13979226delinsAC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,61:142:0.42958:65:-100:0:11,21,9,7,5,8,50,108,34,36,24,36:100:100 +7 13979225 . GA AC 100 PASS DP=142;CSQ_Allele=AC;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-355_670-354delinsGT;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979225_13979226delinsAC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,61:142:0.42958:65:-100:0:11,21,9,7,5,8,50,108,34,36,24,36:100:100 +7 13979578 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-707G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979578C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9532;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.308319;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,41:130:0.31538:65:-100:0.1667:6,15,4,6,2,8,18,49,14,22,10,17:100:100 +7 13979578 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-707G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979578C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9532;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.308319;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,41:130:0.31538:65:-100:0.1667:6,15,4,6,2,8,18,49,14,22,10,17:100:100 +7 13979578 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-707G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979578C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9532;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.308319;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,41:130:0.31538:65:-100:0.1667:6,15,4,6,2,8,18,49,14,22,10,17:100:100 +7 13979578 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-707G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979578C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9532;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.308319;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,41:130:0.31538:65:-100:0.1667:6,15,4,6,2,8,18,49,14,22,10,17:100:100 +7 13979611 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-740C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979611G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9535;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.308556;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,38:121:0.31405:65:-100:0.1769:7,12,5,4,4,6,17,40,13,20,15,16:100:100 +7 13979611 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-740C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979611G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9535;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.308556;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,38:121:0.31405:65:-100:0.1769:7,12,5,4,4,6,17,40,13,20,15,16:100:100 +7 13979611 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-740C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979611G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9535;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.308556;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,38:121:0.31405:65:-100:0.1769:7,12,5,4,4,6,17,40,13,20,15,16:100:100 +7 13979611 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-740C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13979611G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9535;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.308556;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,38:121:0.31405:65:-100:0.1769:7,12,5,4,4,6,17,40,13,20,15,16:100:100 +7 13980155 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-1284G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13980155C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9529;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.309102;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.210 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,53:111:0.47748:65:-100:0.1328:11,18,3,5,5,11,22,44,5,14,7,19:100:100 +7 13980155 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-1284G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13980155C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9529;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.309102;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.210 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,53:111:0.47748:65:-100:0.1328:11,18,3,5,5,11,22,44,5,14,7,19:100:100 +7 13980155 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-1284G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13980155C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9529;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.309102;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.210 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,53:111:0.47748:65:-100:0.1328:11,18,3,5,5,11,22,44,5,14,7,19:100:100 +7 13980155 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-1284G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13980155C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9529;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.309102;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.210 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,53:111:0.47748:65:-100:0.1328:11,18,3,5,5,11,22,44,5,14,7,19:100:100 +7 13980199 . T A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-1328A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13980199T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2272;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.0735942;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.479 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,23:135:0.17037:65:-100:0.1118:3,14,1,3,1,1,27,57,6,20,9,16:100:100 +7 13980199 . T A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-1328A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13980199T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2272;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.0735942;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.479 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,23:135:0.17037:65:-100:0.1118:3,14,1,3,1,1,27,57,6,20,9,16:100:100 +7 13980199 . T A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-1328A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13980199T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2272;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.0735942;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.479 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,23:135:0.17037:65:-100:0.1118:3,14,1,3,1,1,27,57,6,20,9,16:100:100 +7 13980199 . T A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-1328A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13980199T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2272;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.0735942;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.479 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,23:135:0.17037:65:-100:0.1118:3,14,1,3,1,1,27,57,6,20,9,16:100:100 +7 13981263 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-2392T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981263A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9831;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.318403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,53:141:0.37589:65:-100:0.1557:10,16,4,12,5,6,28,37,14,31,12,19:100:100 +7 13981263 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-2392T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981263A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9831;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.318403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,53:141:0.37589:65:-100:0.1557:10,16,4,12,5,6,28,37,14,31,12,19:100:100 +7 13981263 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-2392T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981263A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9831;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.318403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,53:141:0.37589:65:-100:0.1557:10,16,4,12,5,6,28,37,14,31,12,19:100:100 +7 13981263 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-2392T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981263A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9831;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.318403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,53:141:0.37589:65:-100:0.1557:10,16,4,12,5,6,28,37,14,31,12,19:100:100 +7 13981573 . C G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-2702G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981573C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9435;CSQ_gnomADg_AN=30446;CSQ_gnomADg_AF=0.309893;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.274 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,77:166:0.46386:65:-100:0.217:10,16,10,15,11,15,24,33,25,29,30,25:100:100 +7 13981573 . C G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-2702G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981573C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9435;CSQ_gnomADg_AN=30446;CSQ_gnomADg_AF=0.309893;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.274 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,77:166:0.46386:65:-100:0.217:10,16,10,15,11,15,24,33,25,29,30,25:100:100 +7 13981573 . C G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-2702G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981573C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9435;CSQ_gnomADg_AN=30446;CSQ_gnomADg_AF=0.309893;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.274 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,77:166:0.46386:65:-100:0.217:10,16,10,15,11,15,24,33,25,29,30,25:100:100 +7 13981573 . C G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-2702G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981573C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9435;CSQ_gnomADg_AN=30446;CSQ_gnomADg_AF=0.309893;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.274 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,77:166:0.46386:65:-100:0.217:10,16,10,15,11,15,24,33,25,29,30,25:100:100 +7 13981582 . G C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-2711C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981582G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9424;CSQ_gnomADg_AN=30442;CSQ_gnomADg_AF=0.309572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.376 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,66:148:0.44595:65:-100:0.3393:11,13,6,12,11,13,25,33,18,23,31,18:100:100 +7 13981582 . G C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-2711C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981582G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9424;CSQ_gnomADg_AN=30442;CSQ_gnomADg_AF=0.309572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.376 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,66:148:0.44595:65:-100:0.3393:11,13,6,12,11,13,25,33,18,23,31,18:100:100 +7 13981582 . G C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-2711C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981582G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9424;CSQ_gnomADg_AN=30442;CSQ_gnomADg_AF=0.309572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.376 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,66:148:0.44595:65:-100:0.3393:11,13,6,12,11,13,25,33,18,23,31,18:100:100 +7 13981582 . G C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-2711C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981582G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9424;CSQ_gnomADg_AN=30442;CSQ_gnomADg_AF=0.309572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.376 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,66:148:0.44595:65:-100:0.3393:11,13,6,12,11,13,25,33,18,23,31,18:100:100 +7 13981748 . A G 100 PASS DP=19;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-2877T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981748A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9299;CSQ_gnomADg_AN=29586;CSQ_gnomADg_AF=0.314304;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.022 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,10:19:0.52632:65:-100:0.5682:0,3,0,2,0,5,0,4,0,7,0,8:100:100 +7 13981748 . A G 100 PASS DP=19;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-2877T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981748A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9299;CSQ_gnomADg_AN=29586;CSQ_gnomADg_AF=0.314304;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.022 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,10:19:0.52632:65:-100:0.5682:0,3,0,2,0,5,0,4,0,7,0,8:100:100 +7 13981748 . A G 100 PASS DP=19;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-2877T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981748A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9299;CSQ_gnomADg_AN=29586;CSQ_gnomADg_AF=0.314304;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.022 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,10:19:0.52632:65:-100:0.5682:0,3,0,2,0,5,0,4,0,7,0,8:100:100 +7 13981748 . A G 100 PASS DP=19;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-2877T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13981748A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9299;CSQ_gnomADg_AN=29586;CSQ_gnomADg_AF=0.314304;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.022 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,10:19:0.52632:65:-100:0.5682:0,3,0,2,0,5,0,4,0,7,0,8:100:100 +7 13982046 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-3175G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982046C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9766;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.316852;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.776 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,49:130:0.37692:65:-100:0.172:8,16,6,5,7,7,21,42,13,18,14,22:100:100 +7 13982046 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-3175G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982046C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9766;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.316852;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.776 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,49:130:0.37692:65:-100:0.172:8,16,6,5,7,7,21,42,13,18,14,22:100:100 +7 13982046 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-3175G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982046C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9766;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.316852;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.776 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,49:130:0.37692:65:-100:0.172:8,16,6,5,7,7,21,42,13,18,14,22:100:100 +7 13982046 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-3175G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982046C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9766;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.316852;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.776 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,49:130:0.37692:65:-100:0.172:8,16,6,5,7,7,21,42,13,18,14,22:100:100 +7 13982060 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-3189T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982060A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9621;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.31235;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,43:130:0.33077:65:-100:0.1975:9,14,6,2,5,7,22,38,13,19,12,26:100:100 +7 13982060 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-3189T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982060A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9621;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.31235;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,43:130:0.33077:65:-100:0.1975:9,14,6,2,5,7,22,38,13,19,12,26:100:100 +7 13982060 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-3189T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982060A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9621;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.31235;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,43:130:0.33077:65:-100:0.1975:9,14,6,2,5,7,22,38,13,19,12,26:100:100 +7 13982060 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-3189T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982060A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9621;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.31235;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,43:130:0.33077:65:-100:0.1975:9,14,6,2,5,7,22,38,13,19,12,26:100:100 +7 13982420 . A C 100 PASS DP=163;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-3549T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982420A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10950;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.35453;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,60:163:0.3681:65:-100:0.1376:11,25,2,9,5,8,27,65,11,22,14,24:100:100 +7 13982420 . A C 100 PASS DP=163;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-3549T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982420A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10950;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.35453;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,60:163:0.3681:65:-100:0.1376:11,25,2,9,5,8,27,65,11,22,14,24:100:100 +7 13982420 . A C 100 PASS DP=163;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-3549T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982420A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10950;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.35453;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,60:163:0.3681:65:-100:0.1376:11,25,2,9,5,8,27,65,11,22,14,24:100:100 +7 13982420 . A C 100 PASS DP=163;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-3549T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13982420A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10950;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.35453;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,60:163:0.3681:65:-100:0.1376:11,25,2,9,5,8,27,65,11,22,14,24:100:100 +7 13983361 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-4490G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983361C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.061 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,10:159:0.06289:65:-100:0.1587:0,5,0,2,1,2,19,56,10,25,14,35:100:100 +7 13983361 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-4490G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983361C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.061 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,10:159:0.06289:65:-100:0.1587:0,5,0,2,1,2,19,56,10,25,14,35:100:100 +7 13983361 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-4490G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983361C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.061 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,10:159:0.06289:65:-100:0.1587:0,5,0,2,1,2,19,56,10,25,14,35:100:100 +7 13983361 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-4490G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983361C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.061 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,10:159:0.06289:65:-100:0.1587:0,5,0,2,1,2,19,56,10,25,14,35:100:100 +7 13983369 . T A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-4498A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983369T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23188;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.750275;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=0.191 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,134:155:0.86452:65:-100:0.1667:17,44,9,21,10,33,21,55,10,23,11,35:100:100 +7 13983369 . T A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-4498A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983369T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23188;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.750275;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=0.191 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,134:155:0.86452:65:-100:0.1667:17,44,9,21,10,33,21,55,10,23,11,35:100:100 +7 13983369 . T A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-4498A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983369T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23188;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.750275;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=0.191 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,134:155:0.86452:65:-100:0.1667:17,44,9,21,10,33,21,55,10,23,11,35:100:100 +7 13983369 . T A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-4498A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983369T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23188;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.750275;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=0.191 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,134:155:0.86452:65:-100:0.1667:17,44,9,21,10,33,21,55,10,23,11,35:100:100 +7 13983842 . T A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-4971A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983842T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2357;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0761403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.208 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,20:158:0.12658:65:-100:0.1596:6,5,1,4,3,1,27,43,16,33,9,30:100:100 +7 13983842 . T A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-4971A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983842T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2357;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0761403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.208 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,20:158:0.12658:65:-100:0.1596:6,5,1,4,3,1,27,43,16,33,9,30:100:100 +7 13983842 . T A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-4971A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983842T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2357;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0761403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.208 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,20:158:0.12658:65:-100:0.1596:6,5,1,4,3,1,27,43,16,33,9,30:100:100 +7 13983842 . T A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-4971A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983842T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2357;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0761403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.208 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,20:158:0.12658:65:-100:0.1596:6,5,1,4,3,1,27,43,16,33,9,30:100:100 +7 13983859 . CA C 100 PASS DP=161;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-4989del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983864del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,19:161:0.11801:65:-100:0:3,4,2,7,0,3,26,52,16,34,6,27:100:100 +7 13983859 . CA C 100 PASS DP=161;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-4989del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983864del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,19:161:0.11801:65:-100:0:3,4,2,7,0,3,26,52,16,34,6,27:100:100 +7 13983859 . CA C 100 PASS DP=161;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-4989del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983864del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,19:161:0.11801:65:-100:0:3,4,2,7,0,3,26,52,16,34,6,27:100:100 +7 13983859 . CA C 100 PASS DP=161;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-4989del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983864del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,19:161:0.11801:65:-100:0:3,4,2,7,0,3,26,52,16,34,6,27:100:100 +7 13983875 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-5004G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983875C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27636;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.892693;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.593 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:22,140:162:0.8642:65:-100:0.1518:20,52,11,30,4,23,22,61,13,37,5,24:100:100 +7 13983875 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-5004G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983875C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27636;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.892693;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.593 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:22,140:162:0.8642:65:-100:0.1518:20,52,11,30,4,23,22,61,13,37,5,24:100:100 +7 13983875 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-5004G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983875C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27636;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.892693;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.593 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:22,140:162:0.8642:65:-100:0.1518:20,52,11,30,4,23,22,61,13,37,5,24:100:100 +7 13983875 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-5004G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13983875C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27636;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.892693;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.593 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:22,140:162:0.8642:65:-100:0.1518:20,52,11,30,4,23,22,61,13,37,5,24:100:100 +7 13984048 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-5177A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13984048T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.748 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,14:153:0.0915:65:-100:0.1593:1,6,1,4,0,2,21,53,18,27,8,26:100:100 +7 13984048 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-5177A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13984048T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.748 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,14:153:0.0915:65:-100:0.1593:1,6,1,4,0,2,21,53,18,27,8,26:100:100 +7 13984048 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-5177A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13984048T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.748 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,14:153:0.0915:65:-100:0.1593:1,6,1,4,0,2,21,53,18,27,8,26:100:100 +7 13984048 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-5177A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13984048T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.748 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,14:153:0.0915:65:-100:0.1593:1,6,1,4,0,2,21,53,18,27,8,26:100:100 +7 13984918 . T A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-6047A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13984918T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11405;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.369094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,75:153:0.4902:65:-100:0.1453:8,34,2,11,5,15,15,65,10,25,10,28:100:100 +7 13984918 . T A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-6047A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13984918T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11405;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.369094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,75:153:0.4902:65:-100:0.1453:8,34,2,11,5,15,15,65,10,25,10,28:100:100 +7 13984918 . T A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-6047A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13984918T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11405;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.369094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,75:153:0.4902:65:-100:0.1453:8,34,2,11,5,15,15,65,10,25,10,28:100:100 +7 13984918 . T A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-6047A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13984918T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11405;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.369094;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620&COSV54151620;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,75:153:0.4902:65:-100:0.1453:8,34,2,11,5,15,15,65,10,25,10,28:100:100 +7 13986866 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-7995A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13986866T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.522 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,11:135:0.08148:65:-100:0.1667:3,5,2,0,0,1,24,49,11,21,5,25:100:100 +7 13986866 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-7995A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13986866T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.522 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,11:135:0.08148:65:-100:0.1667:3,5,2,0,0,1,24,49,11,21,5,25:100:100 +7 13986866 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-7995A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13986866T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.522 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,11:135:0.08148:65:-100:0.1667:3,5,2,0,0,1,24,49,11,21,5,25:100:100 +7 13986866 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-7995A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13986866T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.522 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,11:135:0.08148:65:-100:0.1667:3,5,2,0,0,1,24,49,11,21,5,25:100:100 +7 13987444 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-8573T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987444A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,7:166:0.04217:65:-100:0.1443:2,3,0,1,0,1,27,58,16,17,25,23:71.921:100 +7 13987444 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-8573T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987444A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,7:166:0.04217:65:-100:0.1443:2,3,0,1,0,1,27,58,16,17,25,23:71.921:100 +7 13987444 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-8573T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987444A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,7:166:0.04217:65:-100:0.1443:2,3,0,1,0,1,27,58,16,17,25,23:71.921:100 +7 13987444 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-8573T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987444A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,7:166:0.04217:65:-100:0.1443:2,3,0,1,0,1,27,58,16,17,25,23:71.921:100 +7 13987863 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-8992C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987863G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1547;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0499742;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,18:161:0.1118:65:-100:0.1105:3,5,1,3,0,6,22,62,10,25,14,28:100:100 +7 13987863 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-8992C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987863G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1547;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0499742;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,18:161:0.1118:65:-100:0.1105:3,5,1,3,0,6,22,62,10,25,14,28:100:100 +7 13987863 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-8992C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987863G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1547;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0499742;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,18:161:0.1118:65:-100:0.1105:3,5,1,3,0,6,22,62,10,25,14,28:100:100 +7 13987863 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-8992C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987863G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1547;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0499742;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,18:161:0.1118:65:-100:0.1105:3,5,1,3,0,6,22,62,10,25,14,28:100:100 +7 13987981 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-9110A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987981T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1535;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0495737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.943 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,7:156:0.04487:65:-95.9852:0.1522:1,2,2,0,0,2,20,61,17,24,6,28:67.783:100 +7 13987981 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-9110A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987981T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1535;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0495737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.943 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,7:156:0.04487:65:-95.9852:0.1522:1,2,2,0,0,2,20,61,17,24,6,28:67.783:100 +7 13987981 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-9110A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987981T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1535;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0495737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.943 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,7:156:0.04487:65:-95.9852:0.1522:1,2,2,0,0,2,20,61,17,24,6,28:67.783:100 +7 13987981 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-9110A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13987981T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1535;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0495737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.943 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,7:156:0.04487:65:-95.9852:0.1522:1,2,2,0,0,2,20,61,17,24,6,28:67.783:100 +7 13988170 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-9299C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988170G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2408;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0777929;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.280 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,31:145:0.21379:65:-100:0.1667:7,12,1,4,1,6,24,43,13,19,21,25:100:100 +7 13988170 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-9299C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988170G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2408;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0777929;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.280 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,31:145:0.21379:65:-100:0.1667:7,12,1,4,1,6,24,43,13,19,21,25:100:100 +7 13988170 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-9299C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988170G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2408;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0777929;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.280 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,31:145:0.21379:65:-100:0.1667:7,12,1,4,1,6,24,43,13,19,21,25:100:100 +7 13988170 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-9299C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988170G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2408;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0777929;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.280 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,31:145:0.21379:65:-100:0.1667:7,12,1,4,1,6,24,43,13,19,21,25:100:100 +7 13988247 . G C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-9376C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988247G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26677;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.862273;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=8.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,108:146:0.73973:65:-100:0.1798:21,40,11,16,7,13,30,51,16,19,9,21:100:100 +7 13988247 . G C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-9376C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988247G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26677;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.862273;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=8.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,108:146:0.73973:65:-100:0.1798:21,40,11,16,7,13,30,51,16,19,9,21:100:100 +7 13988247 . G C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-9376C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988247G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26677;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.862273;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=8.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,108:146:0.73973:65:-100:0.1798:21,40,11,16,7,13,30,51,16,19,9,21:100:100 +7 13988247 . G C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-9376C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988247G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26677;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.862273;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=8.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,108:146:0.73973:65:-100:0.1798:21,40,11,16,7,13,30,51,16,19,9,21:100:100 +7 13988388 . TA T 100 PASS DP=137;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-9518del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988395del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.008 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,18:137:0.13139:65:-100:0:2,8,1,4,0,3,16,53,13,20,8,27:100:100 +7 13988388 . TA T 100 PASS DP=137;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-9518del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988395del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.008 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,18:137:0.13139:65:-100:0:2,8,1,4,0,3,16,53,13,20,8,27:100:100 +7 13988388 . TA T 100 PASS DP=137;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-9518del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988395del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.008 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,18:137:0.13139:65:-100:0:2,8,1,4,0,3,16,53,13,20,8,27:100:100 +7 13988388 . TA T 100 PASS DP=137;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-9518del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988395del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.008 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,18:137:0.13139:65:-100:0:2,8,1,4,0,3,16,53,13,20,8,27:100:100 +7 13988513 . T A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-9642A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988513T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5135;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.166095;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.639 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,25:149:0.16779:65:-100:0.0915:7,8,0,2,2,6,23,50,11,22,11,32:100:100 +7 13988513 . T A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-9642A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988513T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5135;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.166095;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.639 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,25:149:0.16779:65:-100:0.0915:7,8,0,2,2,6,23,50,11,22,11,32:100:100 +7 13988513 . T A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-9642A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988513T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5135;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.166095;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.639 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,25:149:0.16779:65:-100:0.0915:7,8,0,2,2,6,23,50,11,22,11,32:100:100 +7 13988513 . T A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-9642A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988513T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5135;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.166095;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.639 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,25:149:0.16779:65:-100:0.0915:7,8,0,2,2,6,23,50,11,22,11,32:100:100 +7 13988523 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-9652G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988523C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8661;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.280346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.775 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,30:141:0.21277:65:-100:0.1296:3,11,3,8,1,4,23,48,12,19,11,28:100:100 +7 13988523 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-9652G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988523C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8661;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.280346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.775 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,30:141:0.21277:65:-100:0.1296:3,11,3,8,1,4,23,48,12,19,11,28:100:100 +7 13988523 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-9652G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988523C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8661;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.280346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.775 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,30:141:0.21277:65:-100:0.1296:3,11,3,8,1,4,23,48,12,19,11,28:100:100 +7 13988523 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-9652G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988523C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8661;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.280346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.775 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,30:141:0.21277:65:-100:0.1296:3,11,3,8,1,4,23,48,12,19,11,28:100:100 +7 13988568 . C G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-9697G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988568C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2087;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0674531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-47.5182:0.1126:2,2,0,0,0,2,25,38,11,16,14,30:76.728:100 +7 13988568 . C G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-9697G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988568C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2087;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0674531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-47.5182:0.1126:2,2,0,0,0,2,25,38,11,16,14,30:76.728:100 +7 13988568 . C G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-9697G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988568C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2087;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0674531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-47.5182:0.1126:2,2,0,0,0,2,25,38,11,16,14,30:76.728:100 +7 13988568 . C G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-9697G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988568C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2087;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0674531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-47.5182:0.1126:2,2,0,0,0,2,25,38,11,16,14,30:76.728:100 +7 13988742 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-9871A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988742T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4059;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.131419;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=4.490 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,21:126:0.16667:65:-100:0.1656:6,7,2,3,2,1,20,36,19,22,14,15:100:100 +7 13988742 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-9871A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988742T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4059;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.131419;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=4.490 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,21:126:0.16667:65:-100:0.1656:6,7,2,3,2,1,20,36,19,22,14,15:100:100 +7 13988742 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-9871A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988742T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4059;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.131419;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=4.490 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,21:126:0.16667:65:-100:0.1656:6,7,2,3,2,1,20,36,19,22,14,15:100:100 +7 13988742 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-9871A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13988742T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4059;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.131419;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=4.490 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,21:126:0.16667:65:-100:0.1656:6,7,2,3,2,1,20,36,19,22,14,15:100:100 +7 13990919 . G A 100 PASS DP=173;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-12048C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990919G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=835;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0269581;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,27:173:0.15607:65:-100:0.1307:5,10,3,4,1,4,29,60,12,32,11,29:100:100 +7 13990919 . G A 100 PASS DP=173;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-12048C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990919G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=835;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0269581;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,27:173:0.15607:65:-100:0.1307:5,10,3,4,1,4,29,60,12,32,11,29:100:100 +7 13990919 . G A 100 PASS DP=173;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-12048C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990919G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=835;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0269581;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,27:173:0.15607:65:-100:0.1307:5,10,3,4,1,4,29,60,12,32,11,29:100:100 +7 13990919 . G A 100 PASS DP=173;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-12048C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990919G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=835;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0269581;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,27:173:0.15607:65:-100:0.1307:5,10,3,4,1,4,29,60,12,32,11,29:100:100 +7 13990943 . C T 100 PASS DP=188;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-12072G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990943C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15337;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.496247;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.866 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,71:188:0.37766:65:-100:0.1336:7,26,7,14,7,10,32,69,11,30,15,31:100:100 +7 13990943 . C T 100 PASS DP=188;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-12072G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990943C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15337;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.496247;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.866 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,71:188:0.37766:65:-100:0.1336:7,26,7,14,7,10,32,69,11,30,15,31:100:100 +7 13990943 . C T 100 PASS DP=188;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-12072G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990943C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15337;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.496247;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.866 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,71:188:0.37766:65:-100:0.1336:7,26,7,14,7,10,32,69,11,30,15,31:100:100 +7 13990943 . C T 100 PASS DP=188;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-12072G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990943C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15337;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.496247;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.866 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,71:188:0.37766:65:-100:0.1336:7,26,7,14,7,10,32,69,11,30,15,31:100:100 +7 13990992 . A G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-12121T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990992A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13053;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.422127;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,64:167:0.38323:65:-100:0.1117:10,16,2,16,5,15,22,64,5,35,10,31:100:100 +7 13990992 . A G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-12121T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990992A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13053;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.422127;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,64:167:0.38323:65:-100:0.1117:10,16,2,16,5,15,22,64,5,35,10,31:100:100 +7 13990992 . A G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-12121T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990992A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13053;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.422127;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,64:167:0.38323:65:-100:0.1117:10,16,2,16,5,15,22,64,5,35,10,31:100:100 +7 13990992 . A G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-12121T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13990992A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13053;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.422127;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,64:167:0.38323:65:-100:0.1117:10,16,2,16,5,15,22,64,5,35,10,31:100:100 +7 13991221 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-12350A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991221T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15354;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.497279;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.192 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,59:152:0.38816:65:-100:0.1059:8,28,4,7,4,8,19,71,9,21,8,24:100:100 +7 13991221 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-12350A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991221T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15354;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.497279;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.192 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,59:152:0.38816:65:-100:0.1059:8,28,4,7,4,8,19,71,9,21,8,24:100:100 +7 13991221 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-12350A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991221T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15354;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.497279;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.192 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,59:152:0.38816:65:-100:0.1059:8,28,4,7,4,8,19,71,9,21,8,24:100:100 +7 13991221 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-12350A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991221T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15354;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.497279;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.192 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,59:152:0.38816:65:-100:0.1059:8,28,4,7,4,8,19,71,9,21,8,24:100:100 +7 13991464 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-12593C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991464G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3770;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.121801;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,30:157:0.19108:65:-100:0.1467:3,13,3,2,1,8,32,60,15,15,11,24:100:100 +7 13991464 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-12593C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991464G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3770;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.121801;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,30:157:0.19108:65:-100:0.1467:3,13,3,2,1,8,32,60,15,15,11,24:100:100 +7 13991464 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-12593C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991464G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3770;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.121801;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,30:157:0.19108:65:-100:0.1467:3,13,3,2,1,8,32,60,15,15,11,24:100:100 +7 13991464 . G A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-12593C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991464G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3770;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.121801;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,30:157:0.19108:65:-100:0.1467:3,13,3,2,1,8,32,60,15,15,11,24:100:100 +7 13991828 . T G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-12957A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991828T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13051;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.422362;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.877 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,63:149:0.42282:65:-100:0.1337:10,22,4,12,3,12,29,51,13,25,9,22:100:100 +7 13991828 . T G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-12957A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991828T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13051;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.422362;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.877 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,63:149:0.42282:65:-100:0.1337:10,22,4,12,3,12,29,51,13,25,9,22:100:100 +7 13991828 . T G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-12957A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991828T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13051;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.422362;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.877 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,63:149:0.42282:65:-100:0.1337:10,22,4,12,3,12,29,51,13,25,9,22:100:100 +7 13991828 . T G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-12957A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991828T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13051;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.422362;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.877 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,63:149:0.42282:65:-100:0.1337:10,22,4,12,3,12,29,51,13,25,9,22:100:100 +7 13991853 . C G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-12982G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991853C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16856;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.545572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,93:157:0.59236:65:-100:0.1278:21,34,9,12,4,13,36,48,12,26,11,24:100:100 +7 13991853 . C G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-12982G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991853C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16856;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.545572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,93:157:0.59236:65:-100:0.1278:21,34,9,12,4,13,36,48,12,26,11,24:100:100 +7 13991853 . C G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-12982G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991853C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16856;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.545572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,93:157:0.59236:65:-100:0.1278:21,34,9,12,4,13,36,48,12,26,11,24:100:100 +7 13991853 . C G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-12982G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991853C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16856;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.545572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.689 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,93:157:0.59236:65:-100:0.1278:21,34,9,12,4,13,36,48,12,26,11,24:100:100 +7 13991923 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-13052C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991923G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.473 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,14:135:0.1037:65:-100:0.1401:3,6,0,3,0,2,21,58,7,21,9,19:100:100 +7 13991923 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-13052C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991923G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.473 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,14:135:0.1037:65:-100:0.1401:3,6,0,3,0,2,21,58,7,21,9,19:100:100 +7 13991923 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-13052C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991923G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.473 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,14:135:0.1037:65:-100:0.1401:3,6,0,3,0,2,21,58,7,21,9,19:100:100 +7 13991923 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-13052C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13991923G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.473 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,14:135:0.1037:65:-100:0.1401:3,6,0,3,0,2,21,58,7,21,9,19:100:100 +7 13992233 . T A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-13362A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992233T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18365;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.594683;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,85:149:0.57047:65:-100:0.1437:10,30,12,9,5,19,19,54,17,15,9,35:100:100 +7 13992233 . T A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-13362A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992233T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18365;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.594683;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,85:149:0.57047:65:-100:0.1437:10,30,12,9,5,19,19,54,17,15,9,35:100:100 +7 13992233 . T A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-13362A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992233T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18365;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.594683;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,85:149:0.57047:65:-100:0.1437:10,30,12,9,5,19,19,54,17,15,9,35:100:100 +7 13992233 . T A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-13362A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992233T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18365;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.594683;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,85:149:0.57047:65:-100:0.1437:10,30,12,9,5,19,19,54,17,15,9,35:100:100 +7 13992422 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-13551A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992422T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,11:150:0.07333:65:-100:0.1892:1,3,0,0,2,5,19,53,11,24,11,32:100:100 +7 13992422 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-13551A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992422T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,11:150:0.07333:65:-100:0.1892:1,3,0,0,2,5,19,53,11,24,11,32:100:100 +7 13992422 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-13551A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992422T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,11:150:0.07333:65:-100:0.1892:1,3,0,0,2,5,19,53,11,24,11,32:100:100 +7 13992422 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-13551A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992422T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,11:150:0.07333:65:-100:0.1892:1,3,0,0,2,5,19,53,11,24,11,32:100:100 +7 13992460 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-13589T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992460A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18328;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.592986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=4.057 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,76:143:0.53147:65:-100:0.1588:20,22,5,12,5,12,30,46,8,26,6,27:100:100 +7 13992460 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-13589T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992460A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18328;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.592986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=4.057 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,76:143:0.53147:65:-100:0.1588:20,22,5,12,5,12,30,46,8,26,6,27:100:100 +7 13992460 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-13589T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992460A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18328;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.592986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=4.057 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,76:143:0.53147:65:-100:0.1588:20,22,5,12,5,12,30,46,8,26,6,27:100:100 +7 13992460 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-13589T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992460A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18328;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.592986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=4.057 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,76:143:0.53147:65:-100:0.1588:20,22,5,12,5,12,30,46,8,26,6,27:100:100 +7 13992722 . G T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-13851C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992722G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,9:153:0.05882:65:-100:0.1207:2,4,0,1,1,1,24,50,11,24,10,34:100:100 +7 13992722 . G T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-13851C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992722G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,9:153:0.05882:65:-100:0.1207:2,4,0,1,1,1,24,50,11,24,10,34:100:100 +7 13992722 . G T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-13851C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992722G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,9:153:0.05882:65:-100:0.1207:2,4,0,1,1,1,24,50,11,24,10,34:100:100 +7 13992722 . G T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-13851C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13992722G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,9:153:0.05882:65:-100:0.1207:2,4,0,1,1,1,24,50,11,24,10,34:100:100 +7 13993346 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-14475A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13993346T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.844 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,9:167:0.05389:65:-96.3602:0.1971:1,4,2,1,1,0,25,39,19,33,21,30:83.26:100 +7 13993346 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-14475A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13993346T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.844 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,9:167:0.05389:65:-96.3602:0.1971:1,4,2,1,1,0,25,39,19,33,21,30:83.26:100 +7 13993346 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-14475A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13993346T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.844 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,9:167:0.05389:65:-96.3602:0.1971:1,4,2,1,1,0,25,39,19,33,21,30:83.26:100 +7 13993346 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-14475A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13993346T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.844 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,9:167:0.05389:65:-96.3602:0.1971:1,4,2,1,1,0,25,39,19,33,21,30:83.26:100 +7 13995209 . G T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-16338C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13995209G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7160;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.23173;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=0.463 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,22:159:0.13836:65:-100:0.1117:1,9,0,6,4,2,35,44,11,20,19,30:100:100 +7 13995209 . G T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-16338C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13995209G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7160;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.23173;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=0.463 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,22:159:0.13836:65:-100:0.1117:1,9,0,6,4,2,35,44,11,20,19,30:100:100 +7 13995209 . G T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-16338C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13995209G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7160;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.23173;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=0.463 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,22:159:0.13836:65:-100:0.1117:1,9,0,6,4,2,35,44,11,20,19,30:100:100 +7 13995209 . G T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-16338C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13995209G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7160;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.23173;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39inta&ETV1:L63int&ETV1:L63inta&ETV1:L79int&ETV1:L79inta&ETV1:V21int&ETV1:V21inta&ETV1:V61int&ETV1:V61inta;CSQ_CADD_PHRED=0.463 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,22:159:0.13836:65:-100:0.1117:1,9,0,6,4,2,35,44,11,20,19,30:100:100 +7 13996330 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-17459C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996330G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=3.22831e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.187 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,5:152:0.03289:65:-95.3941:0.1364:0,0,1,3,1,0,26,51,12,20,10,33:67.987:100 +7 13996330 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-17459C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996330G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=3.22831e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.187 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,5:152:0.03289:65:-95.3941:0.1364:0,0,1,3,1,0,26,51,12,20,10,33:67.987:100 +7 13996330 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-17459C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996330G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=3.22831e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.187 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,5:152:0.03289:65:-95.3941:0.1364:0,0,1,3,1,0,26,51,12,20,10,33:67.987:100 +7 13996330 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-17459C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996330G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=3.22831e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.187 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,5:152:0.03289:65:-95.3941:0.1364:0,0,1,3,1,0,26,51,12,20,10,33:67.987:100 +7 13996384 . G C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-17513C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996384G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00209921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.402 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1243:1,3,0,0,2,3,26,50,11,20,17,24:100:100 +7 13996384 . G C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-17513C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996384G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00209921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.402 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1243:1,3,0,0,2,3,26,50,11,20,17,24:100:100 +7 13996384 . G C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-17513C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996384G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00209921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.402 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1243:1,3,0,0,2,3,26,50,11,20,17,24:100:100 +7 13996384 . G C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-17513C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996384G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00209921;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.402 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1243:1,3,0,0,2,3,26,50,11,20,17,24:100:100 +7 13996552 . CA C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-17682del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996559del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1434;CSQ_gnomADg_AN=30654;CSQ_gnomADg_AF=0.0467802;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.593 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,8:127:0.06299:65:-100:0:0,1,2,3,0,2,20,42,14,18,11,22:84.095:100 +7 13996552 . CA C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-17682del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996559del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1434;CSQ_gnomADg_AN=30654;CSQ_gnomADg_AF=0.0467802;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.593 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,8:127:0.06299:65:-100:0:0,1,2,3,0,2,20,42,14,18,11,22:84.095:100 +7 13996552 . CA C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-17682del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996559del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1434;CSQ_gnomADg_AN=30654;CSQ_gnomADg_AF=0.0467802;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.593 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,8:127:0.06299:65:-100:0:0,1,2,3,0,2,20,42,14,18,11,22:84.095:100 +7 13996552 . CA C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-17682del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13996559del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1434;CSQ_gnomADg_AN=30654;CSQ_gnomADg_AF=0.0467802;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.593 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,8:127:0.06299:65:-100:0:0,1,2,3,0,2,20,42,14,18,11,22:84.095:100 +7 13997151 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-18280T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997151A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1453;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0469255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.349 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,13:157:0.0828:65:-100:0.1278:2,3,1,4,1,2,35,45,12,30,7,28:100:100 +7 13997151 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-18280T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997151A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1453;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0469255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.349 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,13:157:0.0828:65:-100:0.1278:2,3,1,4,1,2,35,45,12,30,7,28:100:100 +7 13997151 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-18280T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997151A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1453;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0469255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.349 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,13:157:0.0828:65:-100:0.1278:2,3,1,4,1,2,35,45,12,30,7,28:100:100 +7 13997151 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-18280T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997151A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1453;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0469255;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.349 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,13:157:0.0828:65:-100:0.1278:2,3,1,4,1,2,35,45,12,30,7,28:100:100 +7 13997159 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-18288A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997159T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4794;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.154925;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.341 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,13:157:0.0828:65:-100:0.1229:2,3,1,4,1,2,36,46,12,31,7,25:100:100 +7 13997159 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-18288A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997159T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4794;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.154925;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.341 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,13:157:0.0828:65:-100:0.1229:2,3,1,4,1,2,36,46,12,31,7,25:100:100 +7 13997159 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-18288A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997159T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4794;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.154925;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.341 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,13:157:0.0828:65:-100:0.1229:2,3,1,4,1,2,36,46,12,31,7,25:100:100 +7 13997159 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-18288A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997159T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4794;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.154925;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.341 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,13:157:0.0828:65:-100:0.1229:2,3,1,4,1,2,36,46,12,31,7,25:100:100 +7 13997290 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-18419C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997290G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=201;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00649057;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,12:124:0.09677:65:-100:0.1329:2,5,2,2,1,0,29,47,9,15,9,15:100:100 +7 13997290 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-18419C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997290G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=201;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00649057;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,12:124:0.09677:65:-100:0.1329:2,5,2,2,1,0,29,47,9,15,9,15:100:100 +7 13997290 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-18419C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997290G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=201;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00649057;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,12:124:0.09677:65:-100:0.1329:2,5,2,2,1,0,29,47,9,15,9,15:100:100 +7 13997290 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-18419C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997290G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=201;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00649057;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,12:124:0.09677:65:-100:0.1329:2,5,2,2,1,0,29,47,9,15,9,15:100:100 +7 13997415 . CA C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-18545del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997421del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0:1,6,0,1,1,1,16,43,12,21,18,17:100:100 +7 13997415 . CA C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-18545del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997421del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0:1,6,0,1,1,1,16,43,12,21,18,17:100:100 +7 13997415 . CA C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-18545del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997421del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0:1,6,0,1,1,1,16,43,12,21,18,17:100:100 +7 13997415 . CA C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-18545del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997421del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0:1,6,0,1,1,1,16,43,12,21,18,17:100:100 +7 13997645 . C A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-18774G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997645C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1400;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0452342;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,17:154:0.11039:65:-100:0.1585:1,9,1,3,0,3,21,57,16,25,8,27:100:100 +7 13997645 . C A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-18774G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997645C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1400;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0452342;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,17:154:0.11039:65:-100:0.1585:1,9,1,3,0,3,21,57,16,25,8,27:100:100 +7 13997645 . C A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.236-18774G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997645C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1400;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0452342;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,17:154:0.11039:65:-100:0.1585:1,9,1,3,0,3,21,57,16,25,8,27:100:100 +7 13997645 . C A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.670-18774G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13997645C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1400;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0452342;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,17:154:0.11039:65:-100:0.1585:1,9,1,3,0,3,21,57,16,25,8,27:100:100 +7 13998067 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-19196C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13998067G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.491 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,17:149:0.11409:65:-100:0.1534:3,7,1,2,2,2,18,63,11,25,11,21:100:100 +7 13998067 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-19196C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13998067G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.491 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,17:149:0.11409:65:-100:0.1534:3,7,1,2,2,2,18,63,11,25,11,21:100:100 +7 13998067 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+18985C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13998067G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.491 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,17:149:0.11409:65:-100:0.1534:3,7,1,2,2,2,18,63,11,25,11,21:100:100 +7 13998067 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+18985C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13998067G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.491 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,17:149:0.11409:65:-100:0.1534:3,7,1,2,2,2,18,63,11,25,11,21:100:100 +7 13999854 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-20983T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13999854A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3183;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.102837;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.940 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,23:153:0.15033:65:-100:0.1818:5,6,2,5,1,4,28,50,15,25,9,26:100:100 +7 13999854 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-20983T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13999854A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3183;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.102837;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.940 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,23:153:0.15033:65:-100:0.1818:5,6,2,5,1,4,28,50,15,25,9,26:100:100 +7 13999854 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+17198T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13999854A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3183;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.102837;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.940 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,23:153:0.15033:65:-100:0.1818:5,6,2,5,1,4,28,50,15,25,9,26:100:100 +7 13999854 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+17198T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.13999854A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3183;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.102837;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.940 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,23:153:0.15033:65:-100:0.1818:5,6,2,5,1,4,28,50,15,25,9,26:100:100 +7 14000182 . C T 100 PASS DP=102;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-21311G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000182C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5193;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.168681;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.068 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,19:102:0.18627:65:-100:0.1356:3,9,0,1,2,4,20,38,11,11,9,13:100:100 +7 14000182 . C T 100 PASS DP=102;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-21311G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000182C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5193;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.168681;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.068 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,19:102:0.18627:65:-100:0.1356:3,9,0,1,2,4,20,38,11,11,9,13:100:100 +7 14000182 . C T 100 PASS DP=102;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+16870G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000182C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5193;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.168681;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.068 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,19:102:0.18627:65:-100:0.1356:3,9,0,1,2,4,20,38,11,11,9,13:100:100 +7 14000182 . C T 100 PASS DP=102;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+16870G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000182C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5193;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.168681;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.068 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,19:102:0.18627:65:-100:0.1356:3,9,0,1,2,4,20,38,11,11,9,13:100:100 +7 14000709 . T TG 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-21839dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000710dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8404;CSQ_gnomADg_AN=30638;CSQ_gnomADg_AF=0.2743;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.531 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,28:123:0.22764:65:-100:0:3,11,5,5,4,0,19,41,16,18,14,14:100:100 +7 14000709 . T TG 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-21839dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000710dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8404;CSQ_gnomADg_AN=30638;CSQ_gnomADg_AF=0.2743;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.531 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,28:123:0.22764:65:-100:0:3,11,5,5,4,0,19,41,16,18,14,14:100:100 +7 14000709 . T TG 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+16342dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000710dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8404;CSQ_gnomADg_AN=30638;CSQ_gnomADg_AF=0.2743;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.531 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,28:123:0.22764:65:-100:0:3,11,5,5,4,0,19,41,16,18,14,14:100:100 +7 14000709 . T TG 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+16342dup;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000710dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8404;CSQ_gnomADg_AN=30638;CSQ_gnomADg_AF=0.2743;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.531 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,28:123:0.22764:65:-100:0:3,11,5,5,4,0,19,41,16,18,14,14:100:100 +7 14000816 . A G 100 PASS DP=162;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-21945T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000816A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5029;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.162898;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.124 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,27:162:0.16667:65:-100:0.1196:2,9,2,5,3,6,23,50,11,22,18,38:100:100 +7 14000816 . A G 100 PASS DP=162;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-21945T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000816A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5029;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.162898;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.124 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,27:162:0.16667:65:-100:0.1196:2,9,2,5,3,6,23,50,11,22,18,38:100:100 +7 14000816 . A G 100 PASS DP=162;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+16236T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000816A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5029;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.162898;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.124 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,27:162:0.16667:65:-100:0.1196:2,9,2,5,3,6,23,50,11,22,18,38:100:100 +7 14000816 . A G 100 PASS DP=162;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+16236T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14000816A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5029;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.162898;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.124 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,27:162:0.16667:65:-100:0.1196:2,9,2,5,3,6,23,50,11,22,18,38:100:100 +7 14001129 . G C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-22258C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14001129G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3928;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.127029;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,5:142:0.03521:65:-47.0761:0.1647:2,2,0,0,1,0,31,36,15,19,17,24:61.439:100 +7 14001129 . G C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-22258C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14001129G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3928;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.127029;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,5:142:0.03521:65:-47.0761:0.1647:2,2,0,0,1,0,31,36,15,19,17,24:61.439:100 +7 14001129 . G C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+15923C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14001129G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3928;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.127029;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,5:142:0.03521:65:-47.0761:0.1647:2,2,0,0,1,0,31,36,15,19,17,24:61.439:100 +7 14001129 . G C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+15923C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14001129G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3928;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.127029;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,5:142:0.03521:65:-47.0761:0.1647:2,2,0,0,1,0,31,36,15,19,17,24:61.439:100 +7 14001840 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-22969T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14001840A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6104;CSQ_gnomADg_AN=30332;CSQ_gnomADg_AF=0.20124;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.643 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,17:125:0.136:65:-100:0.1776:1,4,2,4,2,4,17,35,18,27,10,18:100:100 +7 14001840 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-22969T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14001840A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6104;CSQ_gnomADg_AN=30332;CSQ_gnomADg_AF=0.20124;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.643 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,17:125:0.136:65:-100:0.1776:1,4,2,4,2,4,17,35,18,27,10,18:100:100 +7 14001840 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+15212T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14001840A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6104;CSQ_gnomADg_AN=30332;CSQ_gnomADg_AF=0.20124;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.643 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,17:125:0.136:65:-100:0.1776:1,4,2,4,2,4,17,35,18,27,10,18:100:100 +7 14001840 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+15212T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14001840A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6104;CSQ_gnomADg_AN=30332;CSQ_gnomADg_AF=0.20124;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.643 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,17:125:0.136:65:-100:0.1776:1,4,2,4,2,4,17,35,18,27,10,18:100:100 +7 14002043 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-23172G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002043C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4620;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.149505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.551 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,17:148:0.11486:65:-100:0.1243:4,3,0,8,0,2,21,53,10,32,13,19:100:100 +7 14002043 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-23172G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002043C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4620;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.149505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.551 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,17:148:0.11486:65:-100:0.1243:4,3,0,8,0,2,21,53,10,32,13,19:100:100 +7 14002043 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+15009G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002043C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4620;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.149505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.551 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,17:148:0.11486:65:-100:0.1243:4,3,0,8,0,2,21,53,10,32,13,19:100:100 +7 14002043 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+15009G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002043C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4620;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.149505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.551 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,17:148:0.11486:65:-100:0.1243:4,3,0,8,0,2,21,53,10,32,13,19:100:100 +7 14002057 . C A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-23186G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002057C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=722;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0233325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.206 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.0909:3,3,1,6,1,3,26,50,12,32,15,25:100:100 +7 14002057 . C A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-23186G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002057C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=722;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0233325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.206 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.0909:3,3,1,6,1,3,26,50,12,32,15,25:100:100 +7 14002057 . C A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+14995G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002057C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=722;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0233325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.206 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.0909:3,3,1,6,1,3,26,50,12,32,15,25:100:100 +7 14002057 . C A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+14995G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002057C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=722;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0233325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.206 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.0909:3,3,1,6,1,3,26,50,12,32,15,25:100:100 +7 14002132 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.182-23261G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002132C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6295;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.203695;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.000 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,29:160:0.18125:65:-100:0.1489:5,11,3,2,4,4,22,63,12,28,13,22:100:100 +7 14002132 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.182-23261G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002132C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6295;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.203695;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.000 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,29:160:0.18125:65:-100:0.1489:5,11,3,2,4,4,22,63,12,28,13,22:100:100 +7 14002132 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+14920G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002132C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6295;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.203695;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.000 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,29:160:0.18125:65:-100:0.1489:5,11,3,2,4,4,22,63,12,28,13,22:100:100 +7 14002132 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+14920G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002132C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6295;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.203695;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.000 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,29:160:0.18125:65:-100:0.1489:5,11,3,2,4,4,22,63,12,28,13,22:100:100 +7 14002806 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+23457C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002806G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=722;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.0233536;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,22:167:0.13174:65:-100:0.1257:1,15,0,3,0,3,20,73,3,26,13,32:100:100 +7 14002806 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+23457C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002806G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=722;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.0233536;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,22:167:0.13174:65:-100:0.1257:1,15,0,3,0,3,20,73,3,26,13,32:100:100 +7 14002806 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+14246C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002806G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=722;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.0233536;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,22:167:0.13174:65:-100:0.1257:1,15,0,3,0,3,20,73,3,26,13,32:100:100 +7 14002806 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+14246C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14002806G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=722;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.0233536;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,22:167:0.13174:65:-100:0.1257:1,15,0,3,0,3,20,73,3,26,13,32:100:100 +7 14003105 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+23158G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003105C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5738;CSQ_gnomADg_AN=29544;CSQ_gnomADg_AF=0.194219;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.667 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,30:122:0.2459:65:-100:0.1644:6,10,5,6,2,1,19,35,13,21,13,21:100:100 +7 14003105 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+23158G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003105C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5738;CSQ_gnomADg_AN=29544;CSQ_gnomADg_AF=0.194219;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.667 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,30:122:0.2459:65:-100:0.1644:6,10,5,6,2,1,19,35,13,21,13,21:100:100 +7 14003105 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+13947G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003105C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5738;CSQ_gnomADg_AN=29544;CSQ_gnomADg_AF=0.194219;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.667 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,30:122:0.2459:65:-100:0.1644:6,10,5,6,2,1,19,35,13,21,13,21:100:100 +7 14003105 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+13947G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003105C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5738;CSQ_gnomADg_AN=29544;CSQ_gnomADg_AF=0.194219;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466&COSV54142466;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.667 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,30:122:0.2459:65:-100:0.1644:6,10,5,6,2,1,19,35,13,21,13,21:100:100 +7 14003203 . G T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+23060C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003203G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=249;CSQ_gnomADg_AN=29508;CSQ_gnomADg_AF=0.00843839;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-100:0.186:1,0,2,2,1,3,20,33,12,16,8,16:100:100 +7 14003203 . G T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+23060C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003203G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=249;CSQ_gnomADg_AN=29508;CSQ_gnomADg_AF=0.00843839;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-100:0.186:1,0,2,2,1,3,20,33,12,16,8,16:100:100 +7 14003203 . G T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+13849C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003203G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=249;CSQ_gnomADg_AN=29508;CSQ_gnomADg_AF=0.00843839;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-100:0.186:1,0,2,2,1,3,20,33,12,16,8,16:100:100 +7 14003203 . G T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+13849C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003203G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=249;CSQ_gnomADg_AN=29508;CSQ_gnomADg_AF=0.00843839;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468&COSV54138468;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-100:0.186:1,0,2,2,1,3,20,33,12,16,8,16:100:100 +7 14003443 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+22820C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003443G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=724;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0233911;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,24:168:0.14286:65:-100:0.0968:4,8,1,6,2,3,32,65,12,25,12,22:100:100 +7 14003443 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+22820C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003443G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=724;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0233911;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,24:168:0.14286:65:-100:0.0968:4,8,1,6,2,3,32,65,12,25,12,22:100:100 +7 14003443 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+13609C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003443G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=724;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0233911;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,24:168:0.14286:65:-100:0.0968:4,8,1,6,2,3,32,65,12,25,12,22:100:100 +7 14003443 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+13609C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003443G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=724;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0233911;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,24:168:0.14286:65:-100:0.0968:4,8,1,6,2,3,32,65,12,25,12,22:100:100 +7 14003966 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+22297G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003966C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6028;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.19503;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.729 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,21:150:0.14:65:-100:0.1071:1,4,3,8,2,3,22,42,16,32,18,20:100:100 +7 14003966 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+22297G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003966C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6028;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.19503;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.729 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,21:150:0.14:65:-100:0.1071:1,4,3,8,2,3,22,42,16,32,18,20:100:100 +7 14003966 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+13086G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003966C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6028;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.19503;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.729 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,21:150:0.14:65:-100:0.1071:1,4,3,8,2,3,22,42,16,32,18,20:100:100 +7 14003966 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+13086G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14003966C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6028;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.19503;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.729 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,21:150:0.14:65:-100:0.1071:1,4,3,8,2,3,22,42,16,32,18,20:100:100 +7 14004079 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+22184G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004079C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6273;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.203075;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.789 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,24:147:0.16327:65:-100:0.1453:2,6,4,5,2,5,20,48,16,29,11,23:100:100 +7 14004079 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+22184G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004079C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6273;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.203075;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.789 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,24:147:0.16327:65:-100:0.1453:2,6,4,5,2,5,20,48,16,29,11,23:100:100 +7 14004079 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+12973G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004079C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6273;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.203075;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.789 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,24:147:0.16327:65:-100:0.1453:2,6,4,5,2,5,20,48,16,29,11,23:100:100 +7 14004079 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+12973G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004079C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6273;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.203075;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.789 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,24:147:0.16327:65:-100:0.1453:2,6,4,5,2,5,20,48,16,29,11,23:100:100 +7 14004330 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+21933T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004330A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=569;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0184071;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,15:143:0.1049:65:-100:0.1437:1,5,1,5,1,2,16,53,8,35,6,25:100:100 +7 14004330 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+21933T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004330A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=569;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0184071;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,15:143:0.1049:65:-100:0.1437:1,5,1,5,1,2,16,53,8,35,6,25:100:100 +7 14004330 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+12722T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004330A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=569;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0184071;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,15:143:0.1049:65:-100:0.1437:1,5,1,5,1,2,16,53,8,35,6,25:100:100 +7 14004330 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+12722T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004330A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=569;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0184071;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,15:143:0.1049:65:-100:0.1437:1,5,1,5,1,2,16,53,8,35,6,25:100:100 +7 14004472 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+21791A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004472T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5643;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.182645;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,29:168:0.17262:65:-100:0.1472:3,11,5,5,2,3,22,56,16,35,12,27:100:100 +7 14004472 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+21791A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004472T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5643;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.182645;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,29:168:0.17262:65:-100:0.1472:3,11,5,5,2,3,22,56,16,35,12,27:100:100 +7 14004472 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+12580A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004472T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5643;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.182645;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,29:168:0.17262:65:-100:0.1472:3,11,5,5,2,3,22,56,16,35,12,27:100:100 +7 14004472 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+12580A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004472T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5643;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.182645;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,29:168:0.17262:65:-100:0.1472:3,11,5,5,2,3,22,56,16,35,12,27:100:100 +7 14004670 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+21593G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004670C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18155;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.587617;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.681 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,89:140:0.63571:65:-100:0.186:12,27,10,22,6,12,20,46,17,29,11,17:100:100 +7 14004670 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+21593G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004670C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18155;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.587617;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.681 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,89:140:0.63571:65:-100:0.186:12,27,10,22,6,12,20,46,17,29,11,17:100:100 +7 14004670 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+12382G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004670C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18155;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.587617;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.681 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,89:140:0.63571:65:-100:0.186:12,27,10,22,6,12,20,46,17,29,11,17:100:100 +7 14004670 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+12382G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004670C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18155;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.587617;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.681 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,89:140:0.63571:65:-100:0.186:12,27,10,22,6,12,20,46,17,29,11,17:100:100 +7 14004710 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+21553G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004710C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17691;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.572265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.003 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,80:134:0.59701:65:-100:0.2024:12,26,8,16,5,13,23,43,14,25,10,19:100:100 +7 14004710 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+21553G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004710C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17691;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.572265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.003 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,80:134:0.59701:65:-100:0.2024:12,26,8,16,5,13,23,43,14,25,10,19:100:100 +7 14004710 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+12342G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004710C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17691;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.572265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.003 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,80:134:0.59701:65:-100:0.2024:12,26,8,16,5,13,23,43,14,25,10,19:100:100 +7 14004710 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+12342G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004710C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17691;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.572265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.003 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,80:134:0.59701:65:-100:0.2024:12,26,8,16,5,13,23,43,14,25,10,19:100:100 +7 14004889 . A G 100 PASS DP=200;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+21374T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=181;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00584437;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.222 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:181,19:200:0.095:65:-100:0.0826:4,4,3,2,3,3,33,58,23,33,16,37:100:100 +7 14004889 . A G 100 PASS DP=200;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+21374T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=181;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00584437;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.222 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:181,19:200:0.095:65:-100:0.0826:4,4,3,2,3,3,33,58,23,33,16,37:100:100 +7 14004889 . A G 100 PASS DP=200;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+12163T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=181;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00584437;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.222 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:181,19:200:0.095:65:-100:0.0826:4,4,3,2,3,3,33,58,23,33,16,37:100:100 +7 14004889 . A G 100 PASS DP=200;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+12163T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14004889A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=181;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00584437;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.222 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:181,19:200:0.095:65:-100:0.0826:4,4,3,2,3,3,33,58,23,33,16,37:100:100 +7 14005788 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+20475A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14005788T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=253;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00816972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.420 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1398:3,6,1,1,2,4,32,54,10,24,12,28:100:100 +7 14005788 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+20475A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14005788T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=253;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00816972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.420 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1398:3,6,1,1,2,4,32,54,10,24,12,28:100:100 +7 14005788 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+11264A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14005788T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=253;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00816972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.420 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1398:3,6,1,1,2,4,32,54,10,24,12,28:100:100 +7 14005788 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+11264A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14005788T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=253;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00816972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.420 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1398:3,6,1,1,2,4,32,54,10,24,12,28:100:100 +7 14006017 . G C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+20246C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006017G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=791;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0255392;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,16:124:0.12903:65:-100:0.1788:4,4,4,1,2,1,17,57,20,12,6,12:100:100 +7 14006017 . G C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+20246C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006017G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=791;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0255392;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,16:124:0.12903:65:-100:0.1788:4,4,4,1,2,1,17,57,20,12,6,12:100:100 +7 14006017 . G C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+11035C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006017G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=791;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0255392;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,16:124:0.12903:65:-100:0.1788:4,4,4,1,2,1,17,57,20,12,6,12:100:100 +7 14006017 . G C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+11035C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006017G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=791;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0255392;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,16:124:0.12903:65:-100:0.1788:4,4,4,1,2,1,17,57,20,12,6,12:100:100 +7 14006229 . G T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+20034C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006229G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17831;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.578478;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,86:128:0.67188:65:-100:0.1634:8,32,8,17,3,18,13,46,10,23,7,29:100:100 +7 14006229 . G T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+20034C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006229G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17831;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.578478;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,86:128:0.67188:65:-100:0.1634:8,32,8,17,3,18,13,46,10,23,7,29:100:100 +7 14006229 . G T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+10823C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006229G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17831;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.578478;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,86:128:0.67188:65:-100:0.1634:8,32,8,17,3,18,13,46,10,23,7,29:100:100 +7 14006229 . G T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+10823C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006229G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17831;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.578478;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,86:128:0.67188:65:-100:0.1634:8,32,8,17,3,18,13,46,10,23,7,29:100:100 +7 14006255 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+20008C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006255G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=792;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0256079;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,20:128:0.15625:65:-100:0.1579:2,6,2,3,3,4,17,49,11,22,7,22:100:100 +7 14006255 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+20008C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006255G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=792;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0256079;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,20:128:0.15625:65:-100:0.1579:2,6,2,3,3,4,17,49,11,22,7,22:100:100 +7 14006255 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+10797C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006255G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=792;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0256079;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,20:128:0.15625:65:-100:0.1579:2,6,2,3,3,4,17,49,11,22,7,22:100:100 +7 14006255 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+10797C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006255G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=792;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0256079;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,20:128:0.15625:65:-100:0.1579:2,6,2,3,3,4,17,49,11,22,7,22:100:100 +7 14006637 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+19626C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006637G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1682;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0543738;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,17:143:0.11888:65:-100:0.1734:2,4,0,7,3,1,24,42,11,27,17,22:100:100 +7 14006637 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+19626C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006637G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1682;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0543738;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,17:143:0.11888:65:-100:0.1734:2,4,0,7,3,1,24,42,11,27,17,22:100:100 +7 14006637 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+10415C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006637G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1682;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0543738;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,17:143:0.11888:65:-100:0.1734:2,4,0,7,3,1,24,42,11,27,17,22:100:100 +7 14006637 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+10415C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006637G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1682;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0543738;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,17:143:0.11888:65:-100:0.1734:2,4,0,7,3,1,24,42,11,27,17,22:100:100 +7 14006895 . T C 100 PASS DP=159;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+19368A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006895T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5591;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.181185;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.893 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,31:159:0.19497:65:-100:0.1359:8,6,4,3,5,5,36,47,16,19,18,23:100:100 +7 14006895 . T C 100 PASS DP=159;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+19368A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006895T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5591;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.181185;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.893 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,31:159:0.19497:65:-100:0.1359:8,6,4,3,5,5,36,47,16,19,18,23:100:100 +7 14006895 . T C 100 PASS DP=159;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+10157A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006895T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5591;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.181185;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.893 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,31:159:0.19497:65:-100:0.1359:8,6,4,3,5,5,36,47,16,19,18,23:100:100 +7 14006895 . T C 100 PASS DP=159;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+10157A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14006895T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5591;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.181185;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.893 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,31:159:0.19497:65:-100:0.1359:8,6,4,3,5,5,36,47,16,19,18,23:100:100 +7 14007302 . C G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+18961G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14007302C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24138;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.781317;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.059 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,115:134:0.85821:65:-100:0.1242:14,36,12,18,9,26,21,39,16,21,10,27:100:100 +7 14007302 . C G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+18961G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14007302C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24138;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.781317;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.059 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,115:134:0.85821:65:-100:0.1242:14,36,12,18,9,26,21,39,16,21,10,27:100:100 +7 14007302 . C G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+9750G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14007302C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24138;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.781317;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.059 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,115:134:0.85821:65:-100:0.1242:14,36,12,18,9,26,21,39,16,21,10,27:100:100 +7 14007302 . C G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+9750G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14007302C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24138;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.781317;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.059 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,115:134:0.85821:65:-100:0.1242:14,36,12,18,9,26,21,39,16,21,10,27:100:100 +7 14007665 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+18598A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14007665T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18498;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.600078;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,82:115:0.71304:65:-100:0.1221:10,27,5,13,8,19,14,38,8,19,13,23:100:100 +7 14007665 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+18598A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14007665T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18498;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.600078;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,82:115:0.71304:65:-100:0.1221:10,27,5,13,8,19,14,38,8,19,13,23:100:100 +7 14007665 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+9387A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14007665T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18498;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.600078;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,82:115:0.71304:65:-100:0.1221:10,27,5,13,8,19,14,38,8,19,13,23:100:100 +7 14007665 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+9387A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14007665T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18498;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.600078;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,82:115:0.71304:65:-100:0.1221:10,27,5,13,8,19,14,38,8,19,13,23:100:100 +7 14008424 . A C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+17839T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008424A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=256;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.00827836;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.216 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1294:4,5,1,2,0,0,36,43,18,22,10,19:100:100 +7 14008424 . A C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+17839T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008424A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=256;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.00827836;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.216 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1294:4,5,1,2,0,0,36,43,18,22,10,19:100:100 +7 14008424 . A C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+8628T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008424A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=256;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.00827836;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.216 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1294:4,5,1,2,0,0,36,43,18,22,10,19:100:100 +7 14008424 . A C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+8628T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008424A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=256;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.00827836;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.216 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1294:4,5,1,2,0,0,36,43,18,22,10,19:100:100 +7 14008579 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+17684A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008579T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18177;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.58871;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,103:153:0.6732:65:-100:0.0893:24,29,5,24,5,16,32,48,9,29,8,27:100:100 +7 14008579 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+17684A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008579T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18177;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.58871;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,103:153:0.6732:65:-100:0.0893:24,29,5,24,5,16,32,48,9,29,8,27:100:100 +7 14008579 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+8473A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008579T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18177;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.58871;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,103:153:0.6732:65:-100:0.0893:24,29,5,24,5,16,32,48,9,29,8,27:100:100 +7 14008579 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+8473A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008579T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18177;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.58871;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,103:153:0.6732:65:-100:0.0893:24,29,5,24,5,16,32,48,9,29,8,27:100:100 +7 14008626 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+17637G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008626C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18187;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.589034;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.228 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,103:140:0.73571:65:-100:0.1026:20,34,7,19,4,19,26,49,9,23,10,23:100:100 +7 14008626 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+17637G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008626C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18187;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.589034;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.228 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,103:140:0.73571:65:-100:0.1026:20,34,7,19,4,19,26,49,9,23,10,23:100:100 +7 14008626 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+8426G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008626C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18187;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.589034;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.228 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,103:140:0.73571:65:-100:0.1026:20,34,7,19,4,19,26,49,9,23,10,23:100:100 +7 14008626 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+8426G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008626C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18187;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.589034;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.228 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,103:140:0.73571:65:-100:0.1026:20,34,7,19,4,19,26,49,9,23,10,23:100:100 +7 14008831 . A C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+17432T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008831A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24133;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.781256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.633 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,107:143:0.74825:65:-100:0.0892:19,37,12,14,8,17,29,46,14,19,11,24:100:100 +7 14008831 . A C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+17432T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008831A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24133;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.781256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.633 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,107:143:0.74825:65:-100:0.0892:19,37,12,14,8,17,29,46,14,19,11,24:100:100 +7 14008831 . A C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+8221T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008831A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24133;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.781256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.633 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,107:143:0.74825:65:-100:0.0892:19,37,12,14,8,17,29,46,14,19,11,24:100:100 +7 14008831 . A C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+8221T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14008831A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24133;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.781256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.633 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,107:143:0.74825:65:-100:0.0892:19,37,12,14,8,17,29,46,14,19,11,24:100:100 +7 14009002 . A T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+17261T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14009002A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3445;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.111402;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.763 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,16:119:0.13445:65:-100:0.156:1,5,2,3,3,2,17,40,15,20,8,19:100:100 +7 14009002 . A T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+17261T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14009002A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3445;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.111402;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.763 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,16:119:0.13445:65:-100:0.156:1,5,2,3,3,2,17,40,15,20,8,19:100:100 +7 14009002 . A T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+8050T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14009002A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3445;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.111402;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.763 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,16:119:0.13445:65:-100:0.156:1,5,2,3,3,2,17,40,15,20,8,19:100:100 +7 14009002 . A T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+8050T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14009002A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3445;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.111402;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.763 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,16:119:0.13445:65:-100:0.156:1,5,2,3,3,2,17,40,15,20,8,19:100:100 +7 14009869 . G A 100 PASS DP=36;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+16394C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14009869G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21841;CSQ_gnomADg_AN=29484;CSQ_gnomADg_AF=0.740775;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,27:36:0.75:65:-100:0.6289:5,9,0,7,1,5,5,14,0,8,3,6:100:100 +7 14009869 . G A 100 PASS DP=36;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+16394C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14009869G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21841;CSQ_gnomADg_AN=29484;CSQ_gnomADg_AF=0.740775;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,27:36:0.75:65:-100:0.6289:5,9,0,7,1,5,5,14,0,8,3,6:100:100 +7 14009869 . G A 100 PASS DP=36;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+7183C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14009869G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21841;CSQ_gnomADg_AN=29484;CSQ_gnomADg_AF=0.740775;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,27:36:0.75:65:-100:0.6289:5,9,0,7,1,5,5,14,0,8,3,6:100:100 +7 14009869 . G A 100 PASS DP=36;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+7183C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14009869G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21841;CSQ_gnomADg_AN=29484;CSQ_gnomADg_AF=0.740775;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,27:36:0.75:65:-100:0.6289:5,9,0,7,1,5,5,14,0,8,3,6:100:100 +7 14010504 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+15759C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14010504G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17793;CSQ_gnomADg_AN=30650;CSQ_gnomADg_AF=0.580522;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476;CSQ_COSMICncMuts=COSV54142476;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.103 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,79:122:0.64754:65:-100:0.1223:17,36,4,14,2,6,23,51,8,24,6,10:100:100 +7 14010504 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+15759C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14010504G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17793;CSQ_gnomADg_AN=30650;CSQ_gnomADg_AF=0.580522;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476;CSQ_COSMICncMuts=COSV54142476;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.103 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,79:122:0.64754:65:-100:0.1223:17,36,4,14,2,6,23,51,8,24,6,10:100:100 +7 14010504 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+6548C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14010504G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17793;CSQ_gnomADg_AN=30650;CSQ_gnomADg_AF=0.580522;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476;CSQ_COSMICncMuts=COSV54142476;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.103 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,79:122:0.64754:65:-100:0.1223:17,36,4,14,2,6,23,51,8,24,6,10:100:100 +7 14010504 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+6548C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14010504G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17793;CSQ_gnomADg_AN=30650;CSQ_gnomADg_AF=0.580522;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476&COSV54142476;CSQ_COSMICncMuts=COSV54142476;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.103 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,79:122:0.64754:65:-100:0.1223:17,36,4,14,2,6,23,51,8,24,6,10:100:100 +7 14011048 . T G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+15215A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011048T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23922;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.772924;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,128:145:0.88276:65:-100:0.1618:24,47,10,18,12,17,28,53,13,20,12,19:100:100 +7 14011048 . T G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+15215A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011048T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23922;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.772924;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,128:145:0.88276:65:-100:0.1618:24,47,10,18,12,17,28,53,13,20,12,19:100:100 +7 14011048 . T G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+6004A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011048T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23922;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.772924;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,128:145:0.88276:65:-100:0.1618:24,47,10,18,12,17,28,53,13,20,12,19:100:100 +7 14011048 . T G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+6004A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011048T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23922;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.772924;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,128:145:0.88276:65:-100:0.1618:24,47,10,18,12,17,28,53,13,20,12,19:100:100 +7 14011671 . G T 100 PASS DP=84;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+14592C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011671G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23859;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.772986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,69:84:0.82143:65:-100:0.2881:4,25,7,14,6,13,5,31,7,19,7,15:100:100 +7 14011671 . G T 100 PASS DP=84;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+14592C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011671G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23859;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.772986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,69:84:0.82143:65:-100:0.2881:4,25,7,14,6,13,5,31,7,19,7,15:100:100 +7 14011671 . G T 100 PASS DP=84;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+5381C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011671G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23859;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.772986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,69:84:0.82143:65:-100:0.2881:4,25,7,14,6,13,5,31,7,19,7,15:100:100 +7 14011671 . G T 100 PASS DP=84;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+5381C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011671G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23859;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.772986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.087 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,69:84:0.82143:65:-100:0.2881:4,25,7,14,6,13,5,31,7,19,7,15:100:100 +7 14011710 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+14553C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011710G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23804;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.772205;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.256 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,85:103:0.82524:65:-100:0.2695:14,23,13,11,8,16,17,30,14,13,11,18:100:100 +7 14011710 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+14553C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011710G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23804;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.772205;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.256 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,85:103:0.82524:65:-100:0.2695:14,23,13,11,8,16,17,30,14,13,11,18:100:100 +7 14011710 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+5342C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011710G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23804;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.772205;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.256 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,85:103:0.82524:65:-100:0.2695:14,23,13,11,8,16,17,30,14,13,11,18:100:100 +7 14011710 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+5342C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14011710G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23804;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.772205;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.256 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,85:103:0.82524:65:-100:0.2695:14,23,13,11,8,16,17,30,14,13,11,18:100:100 +7 14012176 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+14087G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14012176C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.756868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.119 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,120:146:0.82192:65:-100:0.131:20,39,9,19,15,18,26,48,10,25,16,21:100:100 +7 14012176 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+14087G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14012176C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.756868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.119 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,120:146:0.82192:65:-100:0.131:20,39,9,19,15,18,26,48,10,25,16,21:100:100 +7 14012176 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+4876G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14012176C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.756868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.119 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,120:146:0.82192:65:-100:0.131:20,39,9,19,15,18,26,48,10,25,16,21:100:100 +7 14012176 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+4876G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14012176C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.756868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.119 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,120:146:0.82192:65:-100:0.131:20,39,9,19,15,18,26,48,10,25,16,21:100:100 +7 14012886 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+13377A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14012886T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=900;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.029066;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.895 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,33:142:0.23239:65:-100:0.1341:9,11,1,6,2,4,35,53,8,21,5,20:100:100 +7 14012886 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+13377A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14012886T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=900;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.029066;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.895 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,33:142:0.23239:65:-100:0.1341:9,11,1,6,2,4,35,53,8,21,5,20:100:100 +7 14012886 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+4166A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14012886T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=900;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.029066;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.895 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,33:142:0.23239:65:-100:0.1341:9,11,1,6,2,4,35,53,8,21,5,20:100:100 +7 14012886 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+4166A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14012886T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=900;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.029066;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.895 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,33:142:0.23239:65:-100:0.1341:9,11,1,6,2,4,35,53,8,21,5,20:100:100 +7 14013219 . A G 100 PASS DP=171;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+13044T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013219A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24349;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.788402;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.304 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,137:171:0.80117:65:-100:0.0952:27,40,12,24,13,21,37,48,16,26,16,28:100:100 +7 14013219 . A G 100 PASS DP=171;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+13044T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013219A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24349;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.788402;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.304 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,137:171:0.80117:65:-100:0.0952:27,40,12,24,13,21,37,48,16,26,16,28:100:100 +7 14013219 . A G 100 PASS DP=171;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+3833T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013219A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24349;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.788402;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.304 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,137:171:0.80117:65:-100:0.0952:27,40,12,24,13,21,37,48,16,26,16,28:100:100 +7 14013219 . A G 100 PASS DP=171;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+3833T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013219A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24349;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.788402;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.304 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,137:171:0.80117:65:-100:0.0952:27,40,12,24,13,21,37,48,16,26,16,28:100:100 +7 14013328 . A T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+12935T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013328A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23703;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.767982;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,108:133:0.81203:65:-100:0.1529:13,38,5,23,11,18,19,46,8,28,11,21:100:100 +7 14013328 . A T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+12935T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013328A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23703;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.767982;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,108:133:0.81203:65:-100:0.1529:13,38,5,23,11,18,19,46,8,28,11,21:100:100 +7 14013328 . A T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+3724T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013328A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23703;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.767982;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,108:133:0.81203:65:-100:0.1529:13,38,5,23,11,18,19,46,8,28,11,21:100:100 +7 14013328 . A T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+3724T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013328A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23703;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.767982;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,108:133:0.81203:65:-100:0.1529:13,38,5,23,11,18,19,46,8,28,11,21:100:100 +7 14013452 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+12811C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013452G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25295;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.817339;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.020 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,142:163:0.87117:65:-100:0.1141:25,45,9,28,11,24,28,51,11,32,13,28:100:100 +7 14013452 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+12811C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013452G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25295;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.817339;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.020 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,142:163:0.87117:65:-100:0.1141:25,45,9,28,11,24,28,51,11,32,13,28:100:100 +7 14013452 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+3600C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013452G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25295;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.817339;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.020 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,142:163:0.87117:65:-100:0.1141:25,45,9,28,11,24,28,51,11,32,13,28:100:100 +7 14013452 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+3600C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013452G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25295;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.817339;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.020 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,142:163:0.87117:65:-100:0.1141:25,45,9,28,11,24,28,51,11,32,13,28:100:100 +7 14013604 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+12659G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013604C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25315;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.818355;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.057 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,134:158:0.8481:65:-100:0.0971:18,50,6,30,8,22,23,54,10,32,11,28:100:100 +7 14013604 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+12659G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013604C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25315;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.818355;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.057 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,134:158:0.8481:65:-100:0.0971:18,50,6,30,8,22,23,54,10,32,11,28:100:100 +7 14013604 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+3448G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013604C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25315;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.818355;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.057 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,134:158:0.8481:65:-100:0.0971:18,50,6,30,8,22,23,54,10,32,11,28:100:100 +7 14013604 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+3448G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013604C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25315;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.818355;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.057 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,134:158:0.8481:65:-100:0.0971:18,50,6,30,8,22,23,54,10,32,11,28:100:100 +7 14013716 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+12547A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013716T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.277 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.0807:1,4,4,1,0,2,12,59,11,27,8,31:100:100 +7 14013716 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+12547A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013716T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.277 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.0807:1,4,4,1,0,2,12,59,11,27,8,31:100:100 +7 14013716 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+3336A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013716T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.277 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.0807:1,4,4,1,0,2,12,59,11,27,8,31:100:100 +7 14013716 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+3336A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14013716T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.277 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.0807:1,4,4,1,0,2,12,59,11,27,8,31:100:100 +7 14015318 . T A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+10945A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14015318T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39intd&ETV1:L63int&ETV1:L63intd&ETV1:L79int&ETV1:L79intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=2.147 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,75:107:0.70093:65:-100:0.2132:12,18,9,13,13,10,17,24,13,20,17,16:100:100 +7 14015318 . T A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+10945A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14015318T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39intd&ETV1:L63int&ETV1:L63intd&ETV1:L79int&ETV1:L79intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=2.147 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,75:107:0.70093:65:-100:0.2132:12,18,9,13,13,10,17,24,13,20,17,16:100:100 +7 14015318 . T A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+1734A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14015318T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39intd&ETV1:L63int&ETV1:L63intd&ETV1:L79int&ETV1:L79intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=2.147 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,75:107:0.70093:65:-100:0.2132:12,18,9,13,13,10,17,24,13,20,17,16:100:100 +7 14015318 . T A 100 PASS DP=107;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+1734A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14015318T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39intd&ETV1:L63int&ETV1:L63intd&ETV1:L79int&ETV1:L79intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=2.147 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,75:107:0.70093:65:-100:0.2132:12,18,9,13,13,10,17,24,13,20,17,16:100:100 +7 14016173 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+10090G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016173C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4761;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.153978;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,17:156:0.10897:65:-100:0.1285:4,7,0,2,1,3,30,66,12,24,6,18:100:100 +7 14016173 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+10090G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016173C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4761;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.153978;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,17:156:0.10897:65:-100:0.1285:4,7,0,2,1,3,30,66,12,24,6,18:100:100 +7 14016173 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+879G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016173C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4761;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.153978;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,17:156:0.10897:65:-100:0.1285:4,7,0,2,1,3,30,66,12,24,6,18:100:100 +7 14016173 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+879G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016173C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4761;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.153978;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,17:156:0.10897:65:-100:0.1285:4,7,0,2,1,3,30,66,12,24,6,18:100:100 +7 14016424 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+9839C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016424G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.858 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,19:147:0.12925:65:-100:0.1037:3,7,2,1,1,5,26,50,9,21,18,23:100:100 +7 14016424 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+9839C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016424G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.858 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,19:147:0.12925:65:-100:0.1037:3,7,2,1,1,5,26,50,9,21,18,23:100:100 +7 14016424 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+628C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016424G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.858 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,19:147:0.12925:65:-100:0.1037:3,7,2,1,1,5,26,50,9,21,18,23:100:100 +7 14016424 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+628C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016424G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.858 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,19:147:0.12925:65:-100:0.1037:3,7,2,1,1,5,26,50,9,21,18,23:100:100 +7 14016848 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+9415A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016848T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=186;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00600659;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.501 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,7:133:0.05263:65:-96.8868:0.1192:1,1,1,2,0,2,23,47,15,13,10,25:90.991:100 +7 14016848 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+9415A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016848T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=186;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00600659;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.501 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,7:133:0.05263:65:-96.8868:0.1192:1,1,1,2,0,2,23,47,15,13,10,25:90.991:100 +7 14016848 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+204A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016848T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=186;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00600659;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.501 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,7:133:0.05263:65:-96.8868:0.1192:1,1,1,2,0,2,23,47,15,13,10,25:90.991:100 +7 14016848 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+204A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016848T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=186;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00600659;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.501 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,7:133:0.05263:65:-96.8868:0.1192:1,1,1,2,0,2,23,47,15,13,10,25:90.991:100 +7 14016939 . T C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+9324A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016939T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17788;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.577158;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.412 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,75:120:0.625:65:-100:0.1892:9,31,3,13,9,10,12,52,6,18,16,16:100:100 +7 14016939 . T C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+9324A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016939T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17788;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.577158;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.412 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,75:120:0.625:65:-100:0.1892:9,31,3,13,9,10,12,52,6,18,16,16:100:100 +7 14016939 . T C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+113A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016939T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17788;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.577158;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.412 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,75:120:0.625:65:-100:0.1892:9,31,3,13,9,10,12,52,6,18,16,16:100:100 +7 14016939 . T C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+113A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14016939T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17788;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.577158;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.412 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,75:120:0.625:65:-100:0.1892:9,31,3,13,9,10,12,52,6,18,16,16:100:100 +7 14017007 . CC TG 100 PASS DP=130;CSQ_Allele=TG;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+9255_181+9256delinsCA;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017007_14017008delinsTG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39intd&ETV1:L63int&ETV1:L63intd&ETV1:L79int&ETV1:L79intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.949 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,93:130:0.71538:65:-100:0:15,41,5,10,7,15,40,110,16,34,20,40:100:100 +7 14017007 . CC TG 100 PASS DP=130;CSQ_Allele=TG;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+9255_181+9256delinsCA;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017007_14017008delinsTG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39intd&ETV1:L63int&ETV1:L63intd&ETV1:L79int&ETV1:L79intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.949 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,93:130:0.71538:65:-100:0:15,41,5,10,7,15,40,110,16,34,20,40:100:100 +7 14017007 . CC TG 100 PASS DP=130;CSQ_Allele=TG;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.235+44_235+45delinsCA;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017007_14017008delinsTG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39intd&ETV1:L63int&ETV1:L63intd&ETV1:L79int&ETV1:L79intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.949 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,93:130:0.71538:65:-100:0:15,41,5,10,7,15,40,110,16,34,20,40:100:100 +7 14017007 . CC TG 100 PASS DP=130;CSQ_Allele=TG;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.669+44_669+45delinsCA;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017007_14017008delinsTG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:L39int&ETV1:L39intd&ETV1:L63int&ETV1:L63intd&ETV1:L79int&ETV1:L79intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.949 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,93:130:0.71538:65:-100:0:15,41,5,10,7,15,40,110,16,34,20,40:100:100 +7 14017353 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+8910G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017353C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=150;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00484872;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,14:144:0.09722:65:-100:0.1111:3,3,1,4,1,2,24,53,11,22,8,26:100:100 +7 14017353 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+8910G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017353C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=150;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00484872;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,14:144:0.09722:65:-100:0.1111:3,3,1,4,1,2,24,53,11,22,8,26:100:100 +7 14017353 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-248G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017353C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=150;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00484872;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,14:144:0.09722:65:-100:0.1111:3,3,1,4,1,2,24,53,11,22,8,26:100:100 +7 14017353 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-248G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017353C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=150;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00484872;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.687 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,14:144:0.09722:65:-100:0.1111:3,3,1,4,1,2,24,53,11,22,8,26:100:100 +7 14017405 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+8858A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017405T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=196;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00633279;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,5:143:0.03497:65:-46.8709:0.1118:1,3,0,1,0,0,26,54,12,26,7,18:61.787:100 +7 14017405 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+8858A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017405T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=196;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00633279;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,5:143:0.03497:65:-46.8709:0.1118:1,3,0,1,0,0,26,54,12,26,7,18:61.787:100 +7 14017405 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-300A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017405T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=196;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00633279;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,5:143:0.03497:65:-46.8709:0.1118:1,3,0,1,0,0,26,54,12,26,7,18:61.787:100 +7 14017405 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-300A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14017405T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=196;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00633279;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.507 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,5:143:0.03497:65:-46.8709:0.1118:1,3,0,1,0,0,26,54,12,26,7,18:61.787:100 +7 14018250 . T A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+8013A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018250T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=187;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.00605531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,5:140:0.03571:65:-46.675:0.1083:0,1,1,0,2,1,25,43,15,22,15,20:76.337:100 +7 14018250 . T A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+8013A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018250T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=187;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.00605531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,5:140:0.03571:65:-46.675:0.1083:0,1,1,0,2,1,25,43,15,22,15,20:76.337:100 +7 14018250 . T A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-1145A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018250T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=187;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.00605531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,5:140:0.03571:65:-46.675:0.1083:0,1,1,0,2,1,25,43,15,22,15,20:76.337:100 +7 14018250 . T A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-1145A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018250T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=187;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.00605531;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,5:140:0.03571:65:-46.675:0.1083:0,1,1,0,2,1,25,43,15,22,15,20:76.337:100 +7 14018360 . G T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+7903C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018360G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18125;CSQ_gnomADg_AN=30554;CSQ_gnomADg_AF=0.593212;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.625 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,86:127:0.67717:65:-100:0.1589:10,34,7,23,5,7,18,50,13,25,9,12:100:100 +7 14018360 . G T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+7903C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018360G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18125;CSQ_gnomADg_AN=30554;CSQ_gnomADg_AF=0.593212;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.625 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,86:127:0.67717:65:-100:0.1589:10,34,7,23,5,7,18,50,13,25,9,12:100:100 +7 14018360 . G T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-1255C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018360G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18125;CSQ_gnomADg_AN=30554;CSQ_gnomADg_AF=0.593212;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.625 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,86:127:0.67717:65:-100:0.1589:10,34,7,23,5,7,18,50,13,25,9,12:100:100 +7 14018360 . G T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-1255C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018360G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18125;CSQ_gnomADg_AN=30554;CSQ_gnomADg_AF=0.593212;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.625 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,86:127:0.67717:65:-100:0.1589:10,34,7,23,5,7,18,50,13,25,9,12:100:100 +7 14018494 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+7769G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018494C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23499;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.761471;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21inta&ETV1:A45int&ETV1:A45inta&ETV1:A61int&ETV1:A61inta&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.951 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,94:130:0.72308:65:-100:0.0845:17,38,9,7,5,18,22,51,11,14,8,24:100:100 +7 14018494 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+7769G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018494C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23499;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.761471;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21inta&ETV1:A45int&ETV1:A45inta&ETV1:A61int&ETV1:A61inta&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.951 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,94:130:0.72308:65:-100:0.0845:17,38,9,7,5,18,22,51,11,14,8,24:100:100 +7 14018494 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-1389G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018494C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23499;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.761471;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21inta&ETV1:A45int&ETV1:A45inta&ETV1:A61int&ETV1:A61inta&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.951 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,94:130:0.72308:65:-100:0.0845:17,38,9,7,5,18,22,51,11,14,8,24:100:100 +7 14018494 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-1389G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018494C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23499;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.761471;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21inta&ETV1:A45int&ETV1:A45inta&ETV1:A61int&ETV1:A61inta&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.951 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,94:130:0.72308:65:-100:0.0845:17,38,9,7,5,18,22,51,11,14,8,24:100:100 +7 14018901 . C A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+7362G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018901C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4756;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.153936;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.921 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,9:145:0.06207:65:-100:0.1265:3,4,1,0,0,1,24,57,11,22,11,20:90.951:100 +7 14018901 . C A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+7362G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018901C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4756;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.153936;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.921 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,9:145:0.06207:65:-100:0.1265:3,4,1,0,0,1,24,57,11,22,11,20:90.951:100 +7 14018901 . C A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-1796G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018901C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4756;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.153936;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.921 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,9:145:0.06207:65:-100:0.1265:3,4,1,0,0,1,24,57,11,22,11,20:90.951:100 +7 14018901 . C A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-1796G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018901C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4756;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.153936;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.921 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,9:145:0.06207:65:-100:0.1265:3,4,1,0,0,1,24,57,11,22,11,20:90.951:100 +7 14018942 . T C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+7321A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018942T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1015;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.03285;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,18:139:0.1295:65:-100:0.1313:5,8,1,4,0,0,27,51,13,20,13,15:100:100 +7 14018942 . T C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+7321A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018942T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1015;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.03285;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,18:139:0.1295:65:-100:0.1313:5,8,1,4,0,0,27,51,13,20,13,15:100:100 +7 14018942 . T C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-1837A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018942T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1015;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.03285;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,18:139:0.1295:65:-100:0.1313:5,8,1,4,0,0,27,51,13,20,13,15:100:100 +7 14018942 . T C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-1837A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14018942T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1015;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.03285;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,18:139:0.1295:65:-100:0.1313:5,8,1,4,0,0,27,51,13,20,13,15:100:100 +7 14019069 . AT A 100 PASS DP=138;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+7193del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019076del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=3.23436e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,9:138:0.06522:65:-100:0:0,4,1,1,0,3,24,42,13,24,11,24:90.738:100 +7 14019069 . AT A 100 PASS DP=138;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+7193del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019076del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=3.23436e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,9:138:0.06522:65:-100:0:0,4,1,1,0,3,24,42,13,24,11,24:90.738:100 +7 14019069 . AT A 100 PASS DP=138;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-1965del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019076del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=3.23436e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,9:138:0.06522:65:-100:0:0,4,1,1,0,3,24,42,13,24,11,24:90.738:100 +7 14019069 . AT A 100 PASS DP=138;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-1965del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019076del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=3.23436e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,9:138:0.06522:65:-100:0:0,4,1,1,0,3,24,42,13,24,11,24:90.738:100 +7 14019242 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+7021T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24379;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.789169;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,105:140:0.75:65:-100:0.1083:16,33,7,20,6,23,20,45,10,28,11,26:100:100 +7 14019242 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+7021T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24379;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.789169;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,105:140:0.75:65:-100:0.1083:16,33,7,20,6,23,20,45,10,28,11,26:100:100 +7 14019242 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-2137T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24379;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.789169;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,105:140:0.75:65:-100:0.1083:16,33,7,20,6,23,20,45,10,28,11,26:100:100 +7 14019242 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-2137T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24379;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.789169;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,105:140:0.75:65:-100:0.1083:16,33,7,20,6,23,20,45,10,28,11,26:100:100 +7 14019365 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+6898T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019365A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.46 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,6:142:0.04225:65:-46.9382:0.1125:2,1,0,0,1,2,28,56,7,21,13,17:100:100 +7 14019365 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+6898T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019365A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.46 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,6:142:0.04225:65:-46.9382:0.1125:2,1,0,0,1,2,28,56,7,21,13,17:100:100 +7 14019365 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-2260T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019365A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.46 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,6:142:0.04225:65:-46.9382:0.1125:2,1,0,0,1,2,28,56,7,21,13,17:100:100 +7 14019365 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-2260T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019365A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.46 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,6:142:0.04225:65:-46.9382:0.1125:2,1,0,0,1,2,28,56,7,21,13,17:100:100 +7 14019448 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+6815A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019448T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17750;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.57529;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,107:162:0.66049:65:-100:0.1243:15,47,5,10,8,22,28,64,10,20,11,29:100:100 +7 14019448 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+6815A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019448T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17750;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.57529;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,107:162:0.66049:65:-100:0.1243:15,47,5,10,8,22,28,64,10,20,11,29:100:100 +7 14019448 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-2343A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019448T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17750;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.57529;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,107:162:0.66049:65:-100:0.1243:15,47,5,10,8,22,28,64,10,20,11,29:100:100 +7 14019448 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-2343A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019448T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17750;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.57529;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,107:162:0.66049:65:-100:0.1243:15,47,5,10,8,22,28,64,10,20,11,29:100:100 +7 14019540 . G T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+6723C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019540G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17172;CSQ_gnomADg_AN=30830;CSQ_gnomADg_AF=0.55699;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.505 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,101:146:0.69178:65:-100:0.1512:20,35,10,10,7,19,24,48,18,16,12,28:100:100 +7 14019540 . G T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+6723C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019540G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17172;CSQ_gnomADg_AN=30830;CSQ_gnomADg_AF=0.55699;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.505 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,101:146:0.69178:65:-100:0.1512:20,35,10,10,7,19,24,48,18,16,12,28:100:100 +7 14019540 . G T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-2435C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019540G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17172;CSQ_gnomADg_AN=30830;CSQ_gnomADg_AF=0.55699;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.505 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,101:146:0.69178:65:-100:0.1512:20,35,10,10,7,19,24,48,18,16,12,28:100:100 +7 14019540 . G T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-2435C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14019540G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17172;CSQ_gnomADg_AN=30830;CSQ_gnomADg_AF=0.55699;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.505 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,101:146:0.69178:65:-100:0.1512:20,35,10,10,7,19,24,48,18,16,12,28:100:100 +7 14020304 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+5959G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020304C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4694;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.151811;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,9:156:0.05769:65:-100:0.1086:0,5,0,2,1,1,23,58,13,21,14,27:77.383:100 +7 14020304 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+5959G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020304C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4694;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.151811;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,9:156:0.05769:65:-100:0.1086:0,5,0,2,1,1,23,58,13,21,14,27:77.383:100 +7 14020304 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-3199G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020304C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4694;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.151811;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,9:156:0.05769:65:-100:0.1086:0,5,0,2,1,1,23,58,13,21,14,27:77.383:100 +7 14020304 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-3199G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020304C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4694;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.151811;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,9:156:0.05769:65:-100:0.1086:0,5,0,2,1,1,23,58,13,21,14,27:77.383:100 +7 14020327 . AGTCTCAGGATGTC A 100 PASS DP=160;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+5923_181+5935del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020329_14020341del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.000193698;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,9:160:0.05625:65:-100:0:1,5,1,1,1,0,23,59,14,22,15,28:100:100 +7 14020327 . AGTCTCAGGATGTC A 100 PASS DP=160;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+5923_181+5935del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020329_14020341del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.000193698;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,9:160:0.05625:65:-100:0:1,5,1,1,1,0,23,59,14,22,15,28:100:100 +7 14020327 . AGTCTCAGGATGTC A 100 PASS DP=160;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-3235_182-3223del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020329_14020341del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.000193698;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,9:160:0.05625:65:-100:0:1,5,1,1,1,0,23,59,14,22,15,28:100:100 +7 14020327 . AGTCTCAGGATGTC A 100 PASS DP=160;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-3235_616-3223del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020329_14020341del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.000193698;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,9:160:0.05625:65:-100:0:1,5,1,1,1,0,23,59,14,22,15,28:100:100 +7 14020576 . GC G 100 PASS DP=109;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+5686del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020578del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4725;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.152824;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.671 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-100:0:1,3,1,3,1,1,13,37,13,18,11,17:71.225:100 +7 14020576 . GC G 100 PASS DP=109;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+5686del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020578del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4725;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.152824;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.671 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-100:0:1,3,1,3,1,1,13,37,13,18,11,17:71.225:100 +7 14020576 . GC G 100 PASS DP=109;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-3472del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020578del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4725;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.152824;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.671 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-100:0:1,3,1,3,1,1,13,37,13,18,11,17:71.225:100 +7 14020576 . GC G 100 PASS DP=109;CSQ_Allele=-;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-3472del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020578del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4725;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.152824;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.671 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-100:0:1,3,1,3,1,1,13,37,13,18,11,17:71.225:100 +7 14020686 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+5577A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020686T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17183;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.558979;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,86:126:0.68254:65:-100:0.1:16,23,12,15,11,9,24,39,13,24,12,14:100:100 +7 14020686 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+5577A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020686T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17183;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.558979;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,86:126:0.68254:65:-100:0.1:16,23,12,15,11,9,24,39,13,24,12,14:100:100 +7 14020686 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-3581A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020686T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17183;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.558979;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,86:126:0.68254:65:-100:0.1:16,23,12,15,11,9,24,39,13,24,12,14:100:100 +7 14020686 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-3581A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14020686T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17183;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.558979;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,86:126:0.68254:65:-100:0.1:16,23,12,15,11,9,24,39,13,24,12,14:100:100 +7 14021095 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+5168C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021095G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15491;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.503412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21inta&ETV1:A45int&ETV1:A45inta&ETV1:A61int&ETV1:A61inta&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=8.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,78:112:0.69643:65:-100:0.1765:15,21,5,16,11,10,21,35,6,20,18,12:100:100 +7 14021095 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+5168C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021095G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15491;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.503412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21inta&ETV1:A45int&ETV1:A45inta&ETV1:A61int&ETV1:A61inta&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=8.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,78:112:0.69643:65:-100:0.1765:15,21,5,16,11,10,21,35,6,20,18,12:100:100 +7 14021095 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-3990C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021095G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15491;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.503412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21inta&ETV1:A45int&ETV1:A45inta&ETV1:A61int&ETV1:A61inta&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=8.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,78:112:0.69643:65:-100:0.1765:15,21,5,16,11,10,21,35,6,20,18,12:100:100 +7 14021095 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-3990C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021095G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15491;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.503412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21inta&ETV1:A45int&ETV1:A45inta&ETV1:A61int&ETV1:A61inta&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=8.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,78:112:0.69643:65:-100:0.1765:15,21,5,16,11,10,21,35,6,20,18,12:100:100 +7 14021121 . C G 100 PASS DP=92;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+5142G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021121C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17838;CSQ_gnomADg_AN=30712;CSQ_gnomADg_AF=0.580815;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.398 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,61:92:0.66304:65:-100:0.2923:9,21,3,12,4,12,16,31,4,16,11,14:100:100 +7 14021121 . C G 100 PASS DP=92;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+5142G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021121C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17838;CSQ_gnomADg_AN=30712;CSQ_gnomADg_AF=0.580815;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.398 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,61:92:0.66304:65:-100:0.2923:9,21,3,12,4,12,16,31,4,16,11,14:100:100 +7 14021121 . C G 100 PASS DP=92;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-4016G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021121C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17838;CSQ_gnomADg_AN=30712;CSQ_gnomADg_AF=0.580815;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.398 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,61:92:0.66304:65:-100:0.2923:9,21,3,12,4,12,16,31,4,16,11,14:100:100 +7 14021121 . C G 100 PASS DP=92;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-4016G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021121C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17838;CSQ_gnomADg_AN=30712;CSQ_gnomADg_AF=0.580815;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.398 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,61:92:0.66304:65:-100:0.2923:9,21,3,12,4,12,16,31,4,16,11,14:100:100 +7 14021333 . TT GC 100 PASS DP=142;CSQ_Allele=GC;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+4929_181+4930delinsGC;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021333_14021334delinsGC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,100:142:0.70423:65:-100:0:19,34,12,11,8,16,52,104,34,30,20,46:100:100 +7 14021333 . TT GC 100 PASS DP=142;CSQ_Allele=GC;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+4929_181+4930delinsGC;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021333_14021334delinsGC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,100:142:0.70423:65:-100:0:19,34,12,11,8,16,52,104,34,30,20,46:100:100 +7 14021333 . TT GC 100 PASS DP=142;CSQ_Allele=GC;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.182-4229_182-4228delinsGC;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021333_14021334delinsGC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,100:142:0.70423:65:-100:0:19,34,12,11,8,16,52,104,34,30,20,46:100:100 +7 14021333 . TT GC 100 PASS DP=142;CSQ_Allele=GC;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.616-4229_616-4228delinsGC;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021333_14021334delinsGC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,100:142:0.70423:65:-100:0:19,34,12,11,8,16,52,104,34,30,20,46:100:100 +7 14021686 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+4577G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021686C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=250;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.00810163;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,10:146:0.06849:65:-94.9486:0.1512:1,4,2,2,0,1,25,51,18,21,10,21:100:100 +7 14021686 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+4577G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021686C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=250;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.00810163;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,10:146:0.06849:65:-94.9486:0.1512:1,4,2,2,0,1,25,51,18,21,10,21:100:100 +7 14021686 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+4577G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021686C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=250;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.00810163;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,10:146:0.06849:65:-94.9486:0.1512:1,4,2,2,0,1,25,51,18,21,10,21:100:100 +7 14021686 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+4577G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021686C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=250;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.00810163;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,10:146:0.06849:65:-94.9486:0.1512:1,4,2,2,0,1,25,51,18,21,10,21:100:100 +7 14021686 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+4577G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021686C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17013;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.551332;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.322 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,81:146:0.55479:65:-100:0.1512:14,32,8,7,6,14,25,51,18,21,10,21:100:100 +7 14021686 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+4577G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021686C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17013;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.551332;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.322 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,81:146:0.55479:65:-100:0.1512:14,32,8,7,6,14,25,51,18,21,10,21:100:100 +7 14021686 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+4577G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021686C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17013;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.551332;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.322 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,81:146:0.55479:65:-100:0.1512:14,32,8,7,6,14,25,51,18,21,10,21:100:100 +7 14021686 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+4577G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14021686C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17013;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.551332;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.322 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,81:146:0.55479:65:-100:0.1512:14,32,8,7,6,14,25,51,18,21,10,21:100:100 +7 14022365 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+3898C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022365G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16701;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.542135;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.066 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,90:146:0.61644:65:-100:0.1609:10,33,5,16,7,19,18,53,11,26,13,25:100:100 +7 14022365 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+3898C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022365G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16701;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.542135;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.066 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,90:146:0.61644:65:-100:0.1609:10,33,5,16,7,19,18,53,11,26,13,25:100:100 +7 14022365 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+3898C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022365G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16701;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.542135;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.066 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,90:146:0.61644:65:-100:0.1609:10,33,5,16,7,19,18,53,11,26,13,25:100:100 +7 14022365 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+3898C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022365G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16701;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.542135;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.066 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,90:146:0.61644:65:-100:0.1609:10,33,5,16,7,19,18,53,11,26,13,25:100:100 +7 14022444 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+3819T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022444A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17949;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.582268;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.634 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,93:146:0.63699:65:-100:0.1361:16,35,6,13,9,14,23,59,10,19,11,24:100:100 +7 14022444 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+3819T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022444A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17949;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.582268;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.634 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,93:146:0.63699:65:-100:0.1361:16,35,6,13,9,14,23,59,10,19,11,24:100:100 +7 14022444 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+3819T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022444A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17949;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.582268;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.634 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,93:146:0.63699:65:-100:0.1361:16,35,6,13,9,14,23,59,10,19,11,24:100:100 +7 14022444 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+3819T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022444A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17949;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.582268;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131&COSV54144131;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.634 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,93:146:0.63699:65:-100:0.1361:16,35,6,13,9,14,23,59,10,19,11,24:100:100 +7 14022522 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+3741T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022522A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17980;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.582518;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=1.997 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,91:143:0.63636:65:-100:0.1227:16,36,5,15,9,10,23,55,9,23,13,20:100:100 +7 14022522 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+3741T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022522A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17980;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.582518;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=1.997 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,91:143:0.63636:65:-100:0.1227:16,36,5,15,9,10,23,55,9,23,13,20:100:100 +7 14022522 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+3741T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022522A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17980;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.582518;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=1.997 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,91:143:0.63636:65:-100:0.1227:16,36,5,15,9,10,23,55,9,23,13,20:100:100 +7 14022522 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+3741T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14022522A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17980;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.582518;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405&COSV54150405;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=1.997 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,91:143:0.63636:65:-100:0.1227:16,36,5,15,9,10,23,55,9,23,13,20:100:100 +7 14023243 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+3020A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023243T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,84:126:0.66667:65:-100:0.1127:6,20,9,21,9,19,12,30,11,28,15,30:100:100 +7 14023243 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+3020A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023243T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,84:126:0.66667:65:-100:0.1127:6,20,9,21,9,19,12,30,11,28,15,30:100:100 +7 14023243 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+3020A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023243T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,84:126:0.66667:65:-100:0.1127:6,20,9,21,9,19,12,30,11,28,15,30:100:100 +7 14023243 . T C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+3020A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023243T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,84:126:0.66667:65:-100:0.1127:6,20,9,21,9,19,12,30,11,28,15,30:100:100 +7 14023291 . G T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+2972C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023291G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15228;CSQ_gnomADg_AN=26508;CSQ_gnomADg_AF=0.574468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,102:143:0.71329:65:-100:0.1538:13,24,12,20,10,23,19,35,16,26,16,31:100:100 +7 14023291 . G T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+2972C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023291G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15228;CSQ_gnomADg_AN=26508;CSQ_gnomADg_AF=0.574468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,102:143:0.71329:65:-100:0.1538:13,24,12,20,10,23,19,35,16,26,16,31:100:100 +7 14023291 . G T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+2972C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023291G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15228;CSQ_gnomADg_AN=26508;CSQ_gnomADg_AF=0.574468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,102:143:0.71329:65:-100:0.1538:13,24,12,20,10,23,19,35,16,26,16,31:100:100 +7 14023291 . G T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+2972C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023291G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15228;CSQ_gnomADg_AN=26508;CSQ_gnomADg_AF=0.574468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,102:143:0.71329:65:-100:0.1538:13,24,12,20,10,23,19,35,16,26,16,31:100:100 +7 14023462 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+2801T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023462A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17873;CSQ_gnomADg_AN=30708;CSQ_gnomADg_AF=0.582031;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.207 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,93:133:0.69925:65:-100:0.1635:16,33,7,16,9,12,22,43,12,25,13,18:100:100 +7 14023462 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+2801T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023462A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17873;CSQ_gnomADg_AN=30708;CSQ_gnomADg_AF=0.582031;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.207 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,93:133:0.69925:65:-100:0.1635:16,33,7,16,9,12,22,43,12,25,13,18:100:100 +7 14023462 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+2801T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023462A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17873;CSQ_gnomADg_AN=30708;CSQ_gnomADg_AF=0.582031;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.207 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,93:133:0.69925:65:-100:0.1635:16,33,7,16,9,12,22,43,12,25,13,18:100:100 +7 14023462 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+2801T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023462A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17873;CSQ_gnomADg_AN=30708;CSQ_gnomADg_AF=0.582031;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.207 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,93:133:0.69925:65:-100:0.1635:16,33,7,16,9,12,22,43,12,25,13,18:100:100 +7 14023649 . A C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+2614T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023649A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,81:122:0.66393:65:-100:0.1701:17,29,2,14,9,10,23,39,6,25,10,19:100:100 +7 14023649 . A C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+2614T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023649A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,81:122:0.66393:65:-100:0.1701:17,29,2,14,9,10,23,39,6,25,10,19:100:100 +7 14023649 . A C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+2614T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023649A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,81:122:0.66393:65:-100:0.1701:17,29,2,14,9,10,23,39,6,25,10,19:100:100 +7 14023649 . A C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+2614T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023649A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.107 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,81:122:0.66393:65:-100:0.1701:17,29,2,14,9,10,23,39,6,25,10,19:100:100 +7 14023807 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+2456G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023807C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24597;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.796277;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=14.92 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,101:132:0.76515:65:-100:0.1429:13,35,6,19,7,21,18,44,9,26,7,28:100:100 +7 14023807 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+2456G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023807C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24597;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.796277;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=14.92 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,101:132:0.76515:65:-100:0.1429:13,35,6,19,7,21,18,44,9,26,7,28:100:100 +7 14023807 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+2456G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023807C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24597;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.796277;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=14.92 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,101:132:0.76515:65:-100:0.1429:13,35,6,19,7,21,18,44,9,26,7,28:100:100 +7 14023807 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+2456G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14023807C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24597;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.796277;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=14.92 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,101:132:0.76515:65:-100:0.1429:13,35,6,19,7,21,18,44,9,26,7,28:100:100 +7 14024173 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+2090C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024173G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17947;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.582581;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,79:133:0.59399:65:-100:0.1419:15,29,6,13,6,10,21,45,10,26,15,16:100:100 +7 14024173 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+2090C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024173G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17947;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.582581;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,79:133:0.59399:65:-100:0.1419:15,29,6,13,6,10,21,45,10,26,15,16:100:100 +7 14024173 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+2090C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024173G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17947;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.582581;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,79:133:0.59399:65:-100:0.1419:15,29,6,13,6,10,21,45,10,26,15,16:100:100 +7 14024173 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+2090C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024173G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17947;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.582581;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,79:133:0.59399:65:-100:0.1419:15,29,6,13,6,10,21,45,10,26,15,16:100:100 +7 14024231 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+2032G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024231C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17950;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.58249;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.932 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,89:140:0.63571:65:-100:0.1139:11,37,9,14,5,13,16,54,15,25,7,23:100:100 +7 14024231 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+2032G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024231C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17950;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.58249;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.932 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,89:140:0.63571:65:-100:0.1139:11,37,9,14,5,13,16,54,15,25,7,23:100:100 +7 14024231 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+2032G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024231C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17950;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.58249;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.932 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,89:140:0.63571:65:-100:0.1139:11,37,9,14,5,13,16,54,15,25,7,23:100:100 +7 14024231 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+2032G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024231C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17950;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.58249;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.932 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,89:140:0.63571:65:-100:0.1139:11,37,9,14,5,13,16,54,15,25,7,23:100:100 +7 14024380 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+1883G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024380C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17946;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.581944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,94:141:0.66667:65:-100:0.1019:9,40,10,10,7,18,12,53,18,20,9,29:100:100 +7 14024380 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+1883G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024380C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17946;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.581944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,94:141:0.66667:65:-100:0.1019:9,40,10,10,7,18,12,53,18,20,9,29:100:100 +7 14024380 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+1883G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024380C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17946;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.581944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,94:141:0.66667:65:-100:0.1019:9,40,10,10,7,18,12,53,18,20,9,29:100:100 +7 14024380 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+1883G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024380C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17946;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.581944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,94:141:0.66667:65:-100:0.1019:9,40,10,10,7,18,12,53,18,20,9,29:100:100 +7 14024396 . A T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+1867T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024396A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17940;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.582014;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,97:144:0.67361:65:-100:0.0943:6,42,7,15,9,18,8,57,12,25,11,31:100:100 +7 14024396 . A T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+1867T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024396A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17940;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.582014;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,97:144:0.67361:65:-100:0.0943:6,42,7,15,9,18,8,57,12,25,11,31:100:100 +7 14024396 . A T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+1867T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024396A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17940;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.582014;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,97:144:0.67361:65:-100:0.0943:6,42,7,15,9,18,8,57,12,25,11,31:100:100 +7 14024396 . A T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+1867T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024396A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17940;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.582014;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,97:144:0.67361:65:-100:0.0943:6,42,7,15,9,18,8,57,12,25,11,31:100:100 +7 14024867 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+1396C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024867G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17964;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.582188;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.978 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,87:139:0.6259:65:-100:0.0974:15,27,8,14,3,20,27,43,12,23,8,26:100:100 +7 14024867 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+1396C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024867G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17964;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.582188;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.978 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,87:139:0.6259:65:-100:0.0974:15,27,8,14,3,20,27,43,12,23,8,26:100:100 +7 14024867 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+1396C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024867G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17964;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.582188;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.978 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,87:139:0.6259:65:-100:0.0974:15,27,8,14,3,20,27,43,12,23,8,26:100:100 +7 14024867 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+1396C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14024867G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17964;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.582188;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.978 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,87:139:0.6259:65:-100:0.0974:15,27,8,14,3,20,27,43,12,23,8,26:100:100 +7 14025317 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+946T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025317A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17950;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.582263;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.187 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,92:141:0.65248:65:-100:0.1296:11,37,4,22,4,14,19,58,5,29,5,25:100:100 +7 14025317 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+946T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025317A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17950;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.582263;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.187 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,92:141:0.65248:65:-100:0.1296:11,37,4,22,4,14,19,58,5,29,5,25:100:100 +7 14025317 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+946T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025317A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17950;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.582263;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.187 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,92:141:0.65248:65:-100:0.1296:11,37,4,22,4,14,19,58,5,29,5,25:100:100 +7 14025317 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+946T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025317A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17950;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.582263;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.187 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,92:141:0.65248:65:-100:0.1296:11,37,4,22,4,14,19,58,5,29,5,25:100:100 +7 14025369 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+894A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025369T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16164;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.523547;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,96:141:0.68085:65:-100:0.1506:7,29,7,28,6,19,19,41,10,35,10,26:100:100 +7 14025369 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+894A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025369T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16164;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.523547;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,96:141:0.68085:65:-100:0.1506:7,29,7,28,6,19,19,41,10,35,10,26:100:100 +7 14025369 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+894A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025369T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16164;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.523547;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,96:141:0.68085:65:-100:0.1506:7,29,7,28,6,19,19,41,10,35,10,26:100:100 +7 14025369 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+894A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025369T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16164;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.523547;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=0.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,96:141:0.68085:65:-100:0.1506:7,29,7,28,6,19,19,41,10,35,10,26:100:100 +7 14025411 . T G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+852A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025411T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17990;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.582615;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,88:143:0.61538:65:-100:0.1333:15,27,6,24,6,10,23,48,9,29,13,21:100:100 +7 14025411 . T G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+852A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025411T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17990;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.582615;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,88:143:0.61538:65:-100:0.1333:15,27,6,24,6,10,23,48,9,29,13,21:100:100 +7 14025411 . T G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+852A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025411T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17990;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.582615;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,88:143:0.61538:65:-100:0.1333:15,27,6,24,6,10,23,48,9,29,13,21:100:100 +7 14025411 . T G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+852A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025411T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17990;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.582615;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,88:143:0.61538:65:-100:0.1333:15,27,6,24,6,10,23,48,9,29,13,21:100:100 +7 14025474 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+789T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025474A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17977;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.581931;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,83:135:0.61481:65:-100:0.1176:14,26,4,18,5,16,22,42,5,24,15,27:100:100 +7 14025474 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+789T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025474A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17977;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.581931;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,83:135:0.61481:65:-100:0.1176:14,26,4,18,5,16,22,42,5,24,15,27:100:100 +7 14025474 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+789T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025474A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17977;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.581931;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,83:135:0.61481:65:-100:0.1176:14,26,4,18,5,16,22,42,5,24,15,27:100:100 +7 14025474 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+789T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025474A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17977;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.581931;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,83:135:0.61481:65:-100:0.1176:14,26,4,18,5,16,22,42,5,24,15,27:100:100 +7 14025528 . C A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+735G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025528C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4372;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.141397;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.243 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-96.7521:0.1258:1,6,0,0,0,3,22,52,7,21,10,20:100:100 +7 14025528 . C A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+735G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025528C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4372;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.141397;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.243 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-96.7521:0.1258:1,6,0,0,0,3,22,52,7,21,10,20:100:100 +7 14025528 . C A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+735G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025528C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4372;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.141397;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.243 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-96.7521:0.1258:1,6,0,0,0,3,22,52,7,21,10,20:100:100 +7 14025528 . C A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+735G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025528C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4372;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.141397;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.243 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-96.7521:0.1258:1,6,0,0,0,3,22,52,7,21,10,20:100:100 +7 14025640 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+623C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025640G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18264;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.591412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512;CSQ_COSMICncMuts=COSV54151512&COSV54151512&COSV54151512&COSV54151512;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=10.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,95:148:0.64189:65:-100:0.103:10,35,10,17,4,19,16,55,17,24,7,29:100:100 +7 14025640 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+623C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025640G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18264;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.591412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512;CSQ_COSMICncMuts=COSV54151512&COSV54151512&COSV54151512&COSV54151512;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=10.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,95:148:0.64189:65:-100:0.103:10,35,10,17,4,19,16,55,17,24,7,29:100:100 +7 14025640 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+623C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025640G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18264;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.591412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512;CSQ_COSMICncMuts=COSV54151512&COSV54151512&COSV54151512&COSV54151512;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=10.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,95:148:0.64189:65:-100:0.103:10,35,10,17,4,19,16,55,17,24,7,29:100:100 +7 14025640 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+623C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025640G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18264;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.591412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512&COSV54151512;CSQ_COSMICncMuts=COSV54151512&COSV54151512&COSV54151512&COSV54151512;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=10.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,95:148:0.64189:65:-100:0.103:10,35,10,17,4,19,16,55,17,24,7,29:100:100 +7 14025727 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+536G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025727C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17977;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.582232;CSQ_gnomADe_AC=95224;CSQ_gnomADe_AN=182220;CSQ_gnomADe_AF=0.522577;CSQ_gnomADe_Hom=25633;CSQ_COSMICcMuts=COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588;CSQ_COSMICncMuts=COSV54148588&COSV54148588&COSV54148588&COSV54148588;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=13.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,115:163:0.70552:65:-100:0.1376:17,41,9,21,8,19,21,61,11,32,13,25:100:100 +7 14025727 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+536G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025727C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17977;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.582232;CSQ_gnomADe_AC=95224;CSQ_gnomADe_AN=182220;CSQ_gnomADe_AF=0.522577;CSQ_gnomADe_Hom=25633;CSQ_COSMICcMuts=COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588;CSQ_COSMICncMuts=COSV54148588&COSV54148588&COSV54148588&COSV54148588;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=13.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,115:163:0.70552:65:-100:0.1376:17,41,9,21,8,19,21,61,11,32,13,25:100:100 +7 14025727 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+536G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025727C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17977;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.582232;CSQ_gnomADe_AC=95224;CSQ_gnomADe_AN=182220;CSQ_gnomADe_AF=0.522577;CSQ_gnomADe_Hom=25633;CSQ_COSMICcMuts=COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588;CSQ_COSMICncMuts=COSV54148588&COSV54148588&COSV54148588&COSV54148588;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=13.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,115:163:0.70552:65:-100:0.1376:17,41,9,21,8,19,21,61,11,32,13,25:100:100 +7 14025727 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+536G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025727C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17977;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.582232;CSQ_gnomADe_AC=95224;CSQ_gnomADe_AN=182220;CSQ_gnomADe_AF=0.522577;CSQ_gnomADe_Hom=25633;CSQ_COSMICcMuts=COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588&COSV54148588;CSQ_COSMICncMuts=COSV54148588&COSV54148588&COSV54148588&COSV54148588;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A21int&ETV1:A21intd&ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:V21int&ETV1:V21intd&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=13.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,115:163:0.70552:65:-100:0.1376:17,41,9,21,8,19,21,61,11,32,13,25:100:100 +7 14025766 . T A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.181+497A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025766T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17967;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.582135;CSQ_gnomADe_AC=114859;CSQ_gnomADe_AN=214232;CSQ_gnomADe_AF=0.536143;CSQ_gnomADe_Hom=31620;CSQ_COSMICcMuts=COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253;CSQ_COSMICncMuts=COSV54148253&COSV54148253&COSV54148253&COSV54148253;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:P12P&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=16.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,111:154:0.72078:65:-100:0.163:17,48,7,19,7,13,20,64,9,29,10,22:100:100 +7 14025766 . T A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.181+497A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025766T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17967;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.582135;CSQ_gnomADe_AC=114859;CSQ_gnomADe_AN=214232;CSQ_gnomADe_AF=0.536143;CSQ_gnomADe_Hom=31620;CSQ_COSMICcMuts=COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253;CSQ_COSMICncMuts=COSV54148253&COSV54148253&COSV54148253&COSV54148253;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:P12P&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=16.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,111:154:0.72078:65:-100:0.163:17,48,7,19,7,13,20,64,9,29,10,22:100:100 +7 14025766 . T A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.181+497A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025766T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17967;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.582135;CSQ_gnomADe_AC=114859;CSQ_gnomADe_AN=214232;CSQ_gnomADe_AF=0.536143;CSQ_gnomADe_Hom=31620;CSQ_COSMICcMuts=COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253;CSQ_COSMICncMuts=COSV54148253&COSV54148253&COSV54148253&COSV54148253;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:P12P&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=16.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,111:154:0.72078:65:-100:0.163:17,48,7,19,7,13,20,64,9,29,10,22:100:100 +7 14025766 . T A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.615+497A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14025766T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17967;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.582135;CSQ_gnomADe_AC=114859;CSQ_gnomADe_AN=214232;CSQ_gnomADe_AF=0.536143;CSQ_gnomADe_Hom=31620;CSQ_COSMICcMuts=COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253&COSV54148253;CSQ_COSMICncMuts=COSV54148253&COSV54148253&COSV54148253&COSV54148253;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:A45int&ETV1:A45intd&ETV1:A61int&ETV1:A61intd&ETV1:P12P&ETV1:V61int&ETV1:V61intd;CSQ_CADD_PHRED=16.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,111:154:0.72078:65:-100:0.163:17,48,7,19,7,13,20,64,9,29,10,22:100:100 +7 14027829 . G T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.46-31C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14027829G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=154;CSQ_gnomADg_AN=30664;CSQ_gnomADg_AF=0.00502218;CSQ_gnomADe_AC=1447;CSQ_gnomADe_AN=245144;CSQ_gnomADe_AF=0.00590265;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,23:172:0.13372:65:-100:0.0947:4,8,0,6,1,4,21,55,14,32,17,33:100:100 +7 14027829 . G T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.46-31C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14027829G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=154;CSQ_gnomADg_AN=30664;CSQ_gnomADg_AF=0.00502218;CSQ_gnomADe_AC=1447;CSQ_gnomADe_AN=245144;CSQ_gnomADe_AF=0.00590265;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,23:172:0.13372:65:-100:0.0947:4,8,0,6,1,4,21,55,14,32,17,33:100:100 +7 14027829 . G T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.46-31C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14027829G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=154;CSQ_gnomADg_AN=30664;CSQ_gnomADg_AF=0.00502218;CSQ_gnomADe_AC=1447;CSQ_gnomADe_AN=245144;CSQ_gnomADe_AF=0.00590265;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,23:172:0.13372:65:-100:0.0947:4,8,0,6,1,4,21,55,14,32,17,33:100:100 +7 14027829 . G T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.480-31C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14027829G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=154;CSQ_gnomADg_AN=30664;CSQ_gnomADg_AF=0.00502218;CSQ_gnomADe_AC=1447;CSQ_gnomADe_AN=245144;CSQ_gnomADe_AF=0.00590265;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,23:172:0.13372:65:-100:0.0947:4,8,0,6,1,4,21,55,14,32,17,33:100:100 +7 14027991 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.46-193A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14027991T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18026;CSQ_gnomADg_AN=30716;CSQ_gnomADg_AF=0.58686;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:N15int&ETV1:N15inta;CSQ_CADD_PHRED=11.02 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,104:167:0.62275:65:-100:0.1211:13,33,6,20,12,20,22,57,10,30,18,30:100:100 +7 14027991 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.46-193A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14027991T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18026;CSQ_gnomADg_AN=30716;CSQ_gnomADg_AF=0.58686;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:N15int&ETV1:N15inta;CSQ_CADD_PHRED=11.02 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,104:167:0.62275:65:-100:0.1211:13,33,6,20,12,20,22,57,10,30,18,30:100:100 +7 14027991 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_004956.5;CSQ_HGVSc=NM_004956.5:c.46-193A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14027991T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18026;CSQ_gnomADg_AN=30716;CSQ_gnomADg_AF=0.58686;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:N15int&ETV1:N15inta;CSQ_CADD_PHRED=11.02 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,104:167:0.62275:65:-100:0.1211:13,33,6,20,12,20,22,57,10,30,18,30:100:100 +7 14027991 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.480-193A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14027991T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18026;CSQ_gnomADg_AN=30716;CSQ_gnomADg_AF=0.58686;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV1:N15int&ETV1:N15inta;CSQ_CADD_PHRED=11.02 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,104:167:0.62275:65:-100:0.1211:13,33,6,20,12,20,22,57,10,30,18,30:100:100 +7 14029468 . G T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.-87-704C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14029468G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4456;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.144132;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.854 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,12:150:0.08:65:-100:0.1667:1,9,0,1,0,1,23,60,19,18,9,21:100:100 +7 14029468 . G T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.-87-704C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14029468G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4456;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.144132;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.854 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,12:150:0.08:65:-100:0.1667:1,9,0,1,0,1,23,60,19,18,9,21:100:100 +7 14029468 . G T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14029468G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4456;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.144132;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.854 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,12:150:0.08:65:-100:0.1667:1,9,0,1,0,1,23,60,19,18,9,21:100:100 +7 14029468 . G T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.151-379C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14029468G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4456;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.144132;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.854 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,12:150:0.08:65:-100:0.1667:1,9,0,1,0,1,23,60,19,18,9,21:100:100 +7 14029529 . T C 100 PASS DP=147;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/12;CSQ_Feature=NM_001163148.2;CSQ_HGVSc=NM_001163148.2:c.-88+649A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14029529T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000193748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,11:147:0.07483:65:-100:0.1503:2,5,1,0,0,3,22,59,15,20,6,25:100:100 +7 14029529 . T C 100 PASS DP=147;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001163149.2;CSQ_HGVSc=NM_001163149.2:c.-87-765A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14029529T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000193748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,11:147:0.07483:65:-100:0.1503:2,5,1,0,0,3,22,59,15,20,6,25:100:100 +7 14029529 . T C 100 PASS DP=147;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004956.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14029529T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000193748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,11:147:0.07483:65:-100:0.1503:2,5,1,0,0,3,22,59,15,20,6,25:100:100 +7 14029529 . T C 100 PASS DP=147;CSQ_Allele=C;CSQ_SYMBOL=ETV1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NR_120445.1;CSQ_HGVSc=NR_120445.1:n.151-440A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.14029529T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000193748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,11:147:0.07483:65:-100:0.1503:2,5,1,0,0,3,22,59,15,20,6,25:100:100 +7 41729892 . C T 100 PASS DP=174;CSQ_Allele=T;CSQ_SYMBOL=INHBA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_002192.4;CSQ_HGVSc=NM_002192.4:c.637G>A;CSQ_HGVSp=NP_002183.1:p.Ala213Thr;CSQ_HGVSg=7:g.41729892C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=246094;CSQ_gnomADe_AF=8.93967e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54219783&COSV54219783;CSQ_COSMICncMuts=COSV54219783&COSV54219783&COSV54219783;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.143;CSQ_Mastermind_MMID3=INHBA:A213T;CSQ_CADD_PHRED=22.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,17:174:0.0977:65:-100:0.13:0,8,2,2,1,4,24,67,22,27,14,20:100:100 +7 41735034 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=INHBA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002192.4;CSQ_HGVSc=NM_002192.4:c.388+4551G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.41735034C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23959;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.774821;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INHBA:G130int&INHBA:G130intd;CSQ_CADD_PHRED=7.189 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,130:143:0.90909:65:-100:0.1227:16,56,6,19,10,23,18,59,6,24,10,26:100:100 +7 41739727 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=INHBA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_002192.4;CSQ_HGVSc=NM_002192.4:c.246G>A;CSQ_HGVSp=NP_002183.1:p.Ala82%3D;CSQ_HGVSg=7:g.41739727C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INHBA:A82A;CSQ_CADD_PHRED=14.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,21:164:0.12805:65:-100:0.1458:1,7,1,5,1,6,31,55,14,27,13,24:100:100 +7 50444272 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=IKZF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_001220767.2;CSQ_HGVSc=NM_001220767.2:c.161-5966G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.50444272G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,14:168:0.08333:65:-100:0.1016:2,5,0,3,1,3,22,63,16,33,6,28:100:100 +7 50444272 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=IKZF1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001291840.1;CSQ_HGVSc=NM_001291840.1:c.161-23344G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.50444272G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,14:168:0.08333:65:-100:0.1016:2,5,0,3,1,3,22,63,16,33,6,28:100:100 +7 50444272 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=IKZF1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_006060.6;CSQ_HGVSc=NM_006060.6:c.202G>A;CSQ_HGVSp=NP_006051.1:p.Gly68Arg;CSQ_HGVSg=7:g.50444272G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485&COSV58792485;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=0.187;CSQ_Mastermind_MMID3=IKZF1:G68R;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,14:168:0.08333:65:-100:0.1016:2,5,0,3,1,3,22,63,16,33,6,28:100:100 +7 50467767 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=IKZF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_001220767.2;CSQ_HGVSc=NM_001220767.2:c.711C>A;CSQ_HGVSp=NP_001207696.1:p.Pro237%3D;CSQ_HGVSg=7:g.50467767C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1270220;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pancytopenia_due_to_IKZF1_mutations¬_provided;CSQ_gnomADg_AC=4851;CSQ_gnomADg_AN=30818;CSQ_gnomADg_AF=0.157408;CSQ_gnomADe_AC=37706;CSQ_gnomADe_AN=206364;CSQ_gnomADe_AF=0.182716;CSQ_gnomADe_Hom=3602;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.616 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,6:141:0.04255:65:-97.1625:0.1754:2,1,1,0,1,1,29,56,12,17,11,16:61.357:100 +7 50467767 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=IKZF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_001291840.1;CSQ_HGVSc=NM_001291840.1:c.312C>A;CSQ_HGVSp=NP_001278769.1:p.Pro104%3D;CSQ_HGVSg=7:g.50467767C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1270220;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pancytopenia_due_to_IKZF1_mutations¬_provided;CSQ_gnomADg_AC=4851;CSQ_gnomADg_AN=30818;CSQ_gnomADg_AF=0.157408;CSQ_gnomADe_AC=37706;CSQ_gnomADe_AN=206364;CSQ_gnomADe_AF=0.182716;CSQ_gnomADe_Hom=3602;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.616 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,6:141:0.04255:65:-97.1625:0.1754:2,1,1,0,1,1,29,56,12,17,11,16:61.357:100 +7 50467767 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=IKZF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_006060.6;CSQ_HGVSc=NM_006060.6:c.1002C>A;CSQ_HGVSp=NP_006051.1:p.Pro334%3D;CSQ_HGVSg=7:g.50467767C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1270220;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pancytopenia_due_to_IKZF1_mutations¬_provided;CSQ_gnomADg_AC=4851;CSQ_gnomADg_AN=30818;CSQ_gnomADg_AF=0.157408;CSQ_gnomADe_AC=37706;CSQ_gnomADe_AN=206364;CSQ_gnomADe_AF=0.182716;CSQ_gnomADe_Hom=3602;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IKZF1:P205P&IKZF1:P247P&IKZF1:P292P&IKZF1:P334P;CSQ_CADD_PHRED=6.616 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,6:141:0.04255:65:-97.1625:0.1754:2,1,1,0,1,1,29,56,12,17,11,16:61.357:100 +7 50468085 . C T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=IKZF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_001220767.2;CSQ_HGVSc=NM_001220767.2:c.1029C>T;CSQ_HGVSp=NP_001207696.1:p.Ala343%3D;CSQ_HGVSg=7:g.50468085C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737;CSQ_COSMICncMuts=COSV58781737;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.477 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:166,17:183:0.0929:65:-100:0.1286:3,6,3,2,0,3,27,69,17,33,14,23:100:100 +7 50468085 . C T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=IKZF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_001291840.1;CSQ_HGVSc=NM_001291840.1:c.630C>T;CSQ_HGVSp=NP_001278769.1:p.Ala210%3D;CSQ_HGVSg=7:g.50468085C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737;CSQ_COSMICncMuts=COSV58781737;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.477 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:166,17:183:0.0929:65:-100:0.1286:3,6,3,2,0,3,27,69,17,33,14,23:100:100 +7 50468085 . C T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=IKZF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_006060.6;CSQ_HGVSc=NM_006060.6:c.1320C>T;CSQ_HGVSp=NP_006051.1:p.Ala440%3D;CSQ_HGVSg=7:g.50468085C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737&COSV58781737;CSQ_COSMICncMuts=COSV58781737;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.477 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:166,17:183:0.0929:65:-100:0.1286:3,6,3,2,0,3,27,69,17,33,14,23:100:100 +7 55172768 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.89-37211T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55172768T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10418;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.336673;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:V30int&EGFR:V30inta;CSQ_CADD_PHRED=6.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,72:122:0.59016:65:-100:0.1408:7,24,4,9,10,18,19,37,11,19,12,24:100:100 +7 55172768 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.89-37211T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55172768T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10418;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.336673;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:V30int&EGFR:V30inta;CSQ_CADD_PHRED=6.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,72:122:0.59016:65:-100:0.1408:7,24,4,9,10,18,19,37,11,19,12,24:100:100 +7 55172768 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/9;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.89-37211T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55172768T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10418;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.336673;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:V30int&EGFR:V30inta;CSQ_CADD_PHRED=6.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,72:122:0.59016:65:-100:0.1408:7,24,4,9,10,18,19,37,11,19,12,24:100:100 +7 55172768 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.89-37211T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55172768T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10418;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.336673;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:V30int&EGFR:V30inta;CSQ_CADD_PHRED=6.291 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,72:122:0.59016:65:-100:0.1408:7,24,4,9,10,18,19,37,11,19,12,24:100:100 +7 55184778 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.89-25201A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55184778A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1982;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0639892;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.472 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,15:134:0.11194:65:-100:0.1677:1,7,3,2,0,2,20,51,10,22,10,21:100:100 +7 55184778 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.89-25201A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55184778A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1982;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0639892;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.472 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,15:134:0.11194:65:-100:0.1677:1,7,3,2,0,2,20,51,10,22,10,21:100:100 +7 55184778 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/9;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.89-25201A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55184778A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1982;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0639892;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.472 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,15:134:0.11194:65:-100:0.1677:1,7,3,2,0,2,20,51,10,22,10,21:100:100 +7 55184778 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.89-25201A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55184778A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1982;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0639892;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.472 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,15:134:0.11194:65:-100:0.1677:1,7,3,2,0,2,20,51,10,22,10,21:100:100 +7 55214348 . C T 100 PASS DP=195;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.474C>T;CSQ_HGVSp=NP_005219.2:p.Asn158%3D;CSQ_HGVSg=7:g.55214348C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259680;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=15602;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.505312;CSQ_gnomADe_AC=125845;CSQ_gnomADe_AN=246188;CSQ_gnomADe_AF=0.511174;CSQ_gnomADe_Hom=32371;CSQ_COSMICcMuts=COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G142int&EGFR:G142intd&EGFR:G30int&EGFR:G30inta&EGFR:N105N&EGFR:N158N;CSQ_CADD_PHRED=9.899 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,103:195:0.52821:65:-100:0.1333:16,39,7,14,10,17,35,68,15,31,17,29:100:100 +7 55214348 . C T 100 PASS DP=195;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/16;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.474C>T;CSQ_HGVSp=NP_958439.1:p.Asn158%3D;CSQ_HGVSg=7:g.55214348C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259680;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=15602;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.505312;CSQ_gnomADe_AC=125845;CSQ_gnomADe_AN=246188;CSQ_gnomADe_AF=0.511174;CSQ_gnomADe_Hom=32371;CSQ_COSMICcMuts=COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G142int&EGFR:G142intd&EGFR:G30int&EGFR:G30inta&EGFR:N105N&EGFR:N158N;CSQ_CADD_PHRED=9.899 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,103:195:0.52821:65:-100:0.1333:16,39,7,14,10,17,35,68,15,31,17,29:100:100 +7 55214348 . C T 100 PASS DP=195;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.474C>T;CSQ_HGVSp=NP_958440.1:p.Asn158%3D;CSQ_HGVSg=7:g.55214348C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259680;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=15602;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.505312;CSQ_gnomADe_AC=125845;CSQ_gnomADe_AN=246188;CSQ_gnomADe_AF=0.511174;CSQ_gnomADe_Hom=32371;CSQ_COSMICcMuts=COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G142int&EGFR:G142intd&EGFR:G30int&EGFR:G30inta&EGFR:N105N&EGFR:N158N;CSQ_CADD_PHRED=9.899 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,103:195:0.52821:65:-100:0.1333:16,39,7,14,10,17,35,68,15,31,17,29:100:100 +7 55214348 . C T 100 PASS DP=195;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/16;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.474C>T;CSQ_HGVSp=NP_958441.1:p.Asn158%3D;CSQ_HGVSg=7:g.55214348C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259680;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=15602;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.505312;CSQ_gnomADe_AC=125845;CSQ_gnomADe_AN=246188;CSQ_gnomADe_AF=0.511174;CSQ_gnomADe_Hom=32371;CSQ_COSMICcMuts=COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078&COSV51766078;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G142int&EGFR:G142intd&EGFR:G30int&EGFR:G30inta&EGFR:N105N&EGFR:N158N;CSQ_CADD_PHRED=9.899 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,103:195:0.52821:65:-100:0.1333:16,39,7,14,10,17,35,68,15,31,17,29:100:100 +7 55220905 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.747+548C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55220905C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2828;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0913555;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196intd&EGFR:L204int&EGFR:L204intd&EGFR:L249int&EGFR:L249intd;CSQ_CADD_PHRED=4.442 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,8:128:0.0625:65:-100:0.1899:1,1,1,1,2,2,12,43,8,24,8,33:100:100 +7 55220905 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.747+548C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55220905C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2828;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0913555;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196intd&EGFR:L204int&EGFR:L204intd&EGFR:L249int&EGFR:L249intd;CSQ_CADD_PHRED=4.442 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,8:128:0.0625:65:-100:0.1899:1,1,1,1,2,2,12,43,8,24,8,33:100:100 +7 55220905 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.747+548C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55220905C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2828;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0913555;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196intd&EGFR:L204int&EGFR:L204intd&EGFR:L249int&EGFR:L249intd;CSQ_CADD_PHRED=4.442 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,8:128:0.0625:65:-100:0.1899:1,1,1,1,2,2,12,43,8,24,8,33:100:100 +7 55220905 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.747+548C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55220905C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2828;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0913555;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196intd&EGFR:L204int&EGFR:L204intd&EGFR:L249int&EGFR:L249intd;CSQ_CADD_PHRED=4.442 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,8:128:0.0625:65:-100:0.1899:1,1,1,1,2,2,12,43,8,24,8,33:100:100 +7 55221167 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.748-537A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221167A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2828;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0914027;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=4.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,7:161:0.04348:65:-100:0.1869:2,2,0,2,0,1,25,50,18,34,14,20:82.909:100 +7 55221167 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.748-537A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221167A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2828;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0914027;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=4.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,7:161:0.04348:65:-100:0.1869:2,2,0,2,0,1,25,50,18,34,14,20:82.909:100 +7 55221167 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.748-537A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221167A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2828;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0914027;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=4.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,7:161:0.04348:65:-100:0.1869:2,2,0,2,0,1,25,50,18,34,14,20:82.909:100 +7 55221167 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.748-537A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221167A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2828;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0914027;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=4.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,7:161:0.04348:65:-100:0.1869:2,2,0,2,0,1,25,50,18,34,14,20:82.909:100 +7 55221447 . C G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.748-257C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221447C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1233640;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16255;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.526256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,92:167:0.5509:65:-100:0.107:16,33,10,15,7,11,24,57,18,29,14,25:100:100 +7 55221447 . C G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.748-257C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221447C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1233640;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16255;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.526256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,92:167:0.5509:65:-100:0.107:16,33,10,15,7,11,24,57,18,29,14,25:100:100 +7 55221447 . C G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.748-257C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221447C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1233640;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16255;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.526256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,92:167:0.5509:65:-100:0.107:16,33,10,15,7,11,24,57,18,29,14,25:100:100 +7 55221447 . C G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.748-257C>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221447C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1233640;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16255;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.526256;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,92:167:0.5509:65:-100:0.107:16,33,10,15,7,11,24,57,18,29,14,25:100:100 +7 55221469 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.748-235C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221469C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1228150;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2620;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0847842;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.698 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,9:159:0.0566:65:-100:0.1067:0,2,2,1,1,3,25,52,18,27,15,22:100:100 +7 55221469 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.748-235C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221469C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1228150;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2620;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0847842;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.698 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,9:159:0.0566:65:-100:0.1067:0,2,2,1,1,3,25,52,18,27,15,22:100:100 +7 55221469 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.748-235C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221469C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1228150;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2620;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0847842;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.698 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,9:159:0.0566:65:-100:0.1067:0,2,2,1,1,3,25,52,18,27,15,22:100:100 +7 55221469 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.748-235C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221469C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1228150;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2620;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0847842;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886&COSV104368886;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.698 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,9:159:0.0566:65:-100:0.1067:0,2,2,1,1,3,25,52,18,27,15,22:100:100 +7 55221655 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.748-49G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221655G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1248590;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7463;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.241505;CSQ_gnomADe_AC=75264;CSQ_gnomADe_AN=245890;CSQ_gnomADe_AF=0.306088;CSQ_gnomADe_Hom=13049;CSQ_COSMICcMuts=COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.538 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,38:172:0.22093:65:-100:0.1357:6,13,0,10,2,7,22,64,20,30,12,24:100:100 +7 55221655 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.748-49G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221655G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1248590;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7463;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.241505;CSQ_gnomADe_AC=75264;CSQ_gnomADe_AN=245890;CSQ_gnomADe_AF=0.306088;CSQ_gnomADe_Hom=13049;CSQ_COSMICcMuts=COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.538 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,38:172:0.22093:65:-100:0.1357:6,13,0,10,2,7,22,64,20,30,12,24:100:100 +7 55221655 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.748-49G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221655G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1248590;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7463;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.241505;CSQ_gnomADe_AC=75264;CSQ_gnomADe_AN=245890;CSQ_gnomADe_AF=0.306088;CSQ_gnomADe_Hom=13049;CSQ_COSMICcMuts=COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.538 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,38:172:0.22093:65:-100:0.1357:6,13,0,10,2,7,22,64,20,30,12,24:100:100 +7 55221655 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.748-49G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55221655G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1248590;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7463;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.241505;CSQ_gnomADe_AC=75264;CSQ_gnomADe_AN=245890;CSQ_gnomADe_AF=0.306088;CSQ_gnomADe_Hom=13049;CSQ_COSMICcMuts=COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953&COSV51773953;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G30int&EGFR:G30inta&EGFR:L196int&EGFR:L196inta&EGFR:L204int&EGFR:L204inta&EGFR:L249int&EGFR:L249inta;CSQ_CADD_PHRED=1.538 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,38:172:0.22093:65:-100:0.1357:6,13,0,10,2,7,22,64,20,30,12,24:100:100 +7 55223790 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1006+151T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55223790T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1268274;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19310;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.625202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:V283int&EGFR:V283intd&EGFR:V291int&EGFR:V291intd&EGFR:V336int&EGFR:V336intd&EGFR:V69int&EGFR:V69intd;CSQ_CADD_PHRED=3.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,111:169:0.6568:65:-100:0.1421:24,44,11,8,9,15,35,60,15,16,15,28:100:100 +7 55223790 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1006+151T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55223790T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1268274;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19310;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.625202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:V283int&EGFR:V283intd&EGFR:V291int&EGFR:V291intd&EGFR:V336int&EGFR:V336intd&EGFR:V69int&EGFR:V69intd;CSQ_CADD_PHRED=3.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,111:169:0.6568:65:-100:0.1421:24,44,11,8,9,15,35,60,15,16,15,28:100:100 +7 55223790 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/9;CSQ_Feature=NM_201283.2;CSQ_HGVSc=NM_201283.2:c.1006+151T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55223790T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1268274;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19310;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.625202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:V283int&EGFR:V283intd&EGFR:V291int&EGFR:V291intd&EGFR:V336int&EGFR:V336intd&EGFR:V69int&EGFR:V69intd;CSQ_CADD_PHRED=3.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,111:169:0.6568:65:-100:0.1421:24,44,11,8,9,15,35,60,15,16,15,28:100:100 +7 55223790 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1006+151T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55223790T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1268274;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19310;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.625202;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638&COSV51818638;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:V283int&EGFR:V283intd&EGFR:V291int&EGFR:V291intd&EGFR:V336int&EGFR:V336intd&EGFR:V69int&EGFR:V69intd;CSQ_CADD_PHRED=3.865 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,111:169:0.6568:65:-100:0.1421:24,44,11,8,9,15,35,60,15,16,15,28:100:100 +7 55229255 . G A 100 PASS DP=185;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1562G>A;CSQ_HGVSp=NP_005219.2:p.Arg521Lys;CSQ_HGVSg=7:g.55229255G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134021;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=7199;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.232631;CSQ_gnomADe_AC=71955;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.292248;CSQ_gnomADe_Hom=11551;CSQ_COSMICcMuts=COSV51770369&COSV51770369&COSV51770369&COSV51770369&COSV51770369&COSV51770369;CSQ_COSMICncMuts=COSV51770369;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=0.005;CSQ_Mastermind_MMID3=EGFR:R254K&EGFR:R468K&EGFR:R476K&EGFR:R521K;CSQ_CADD_PHRED=0.815 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,32:185:0.17297:65:-100:0.1514:3,3,12,4,3,7,18,52,24,38,20,33:100:100 +7 55229255 . G A 100 PASS DP=185;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/16;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1562G>A;CSQ_HGVSp=NP_958439.1:p.Arg521Lys;CSQ_HGVSg=7:g.55229255G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134021;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=7199;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.232631;CSQ_gnomADe_AC=71955;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.292248;CSQ_gnomADe_Hom=11551;CSQ_COSMICcMuts=COSV51770369&COSV51770369&COSV51770369&COSV51770369&COSV51770369&COSV51770369;CSQ_COSMICncMuts=COSV51770369;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=0.005;CSQ_Mastermind_MMID3=EGFR:R254K&EGFR:R468K&EGFR:R476K&EGFR:R521K;CSQ_CADD_PHRED=0.815 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,32:185:0.17297:65:-100:0.1514:3,3,12,4,3,7,18,52,24,38,20,33:100:100 +7 55229255 . G A 100 PASS DP=185;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201283.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55229255G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134021;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=7199;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.232631;CSQ_gnomADe_AC=71955;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.292248;CSQ_gnomADe_Hom=11551;CSQ_COSMICcMuts=COSV51770369&COSV51770369&COSV51770369&COSV51770369&COSV51770369&COSV51770369;CSQ_COSMICncMuts=COSV51770369;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.815 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,32:185:0.17297:65:-100:0.1514:3,3,12,4,3,7,18,52,24,38,20,33:100:100 +7 55229255 . G A 100 PASS DP=185;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/16;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1562G>A;CSQ_HGVSp=NP_958441.1:p.Arg521Lys;CSQ_HGVSg=7:g.55229255G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134021;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=7199;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.232631;CSQ_gnomADe_AC=71955;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.292248;CSQ_gnomADe_Hom=11551;CSQ_COSMICcMuts=COSV51770369&COSV51770369&COSV51770369&COSV51770369&COSV51770369&COSV51770369;CSQ_COSMICncMuts=COSV51770369;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=0.005;CSQ_Mastermind_MMID3=EGFR:R254K&EGFR:R468K&EGFR:R476K&EGFR:R521K;CSQ_CADD_PHRED=0.815 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,32:185:0.17297:65:-100:0.1514:3,3,12,4,3,7,18,52,24,38,20,33:100:100 +7 55229543 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1631+219T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55229543T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1225850;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4466;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.144325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51773959&COSV51773959&COSV51773959&COSV51773959&COSV51773959&COSV51773959;CSQ_COSMICncMuts=COSV51773959;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G277int&EGFR:G277intd&EGFR:G491int&EGFR:G491intd&EGFR:G499int&EGFR:G499intd&EGFR:G544int&EGFR:G544intd;CSQ_CADD_PHRED=5.697 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,27:135:0.2:65:-100:0.1346:5,8,0,7,2,5,22,47,9,26,13,18:100:100 +7 55229543 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1631+219T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55229543T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1225850;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4466;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.144325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51773959&COSV51773959&COSV51773959&COSV51773959&COSV51773959&COSV51773959;CSQ_COSMICncMuts=COSV51773959;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G277int&EGFR:G277intd&EGFR:G491int&EGFR:G491intd&EGFR:G499int&EGFR:G499intd&EGFR:G544int&EGFR:G544intd;CSQ_CADD_PHRED=5.697 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,27:135:0.2:65:-100:0.1346:5,8,0,7,2,5,22,47,9,26,13,18:100:100 +7 55229543 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201283.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55229543T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1225850;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4466;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.144325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51773959&COSV51773959&COSV51773959&COSV51773959&COSV51773959&COSV51773959;CSQ_COSMICncMuts=COSV51773959;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.697 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,27:135:0.2:65:-100:0.1346:5,8,0,7,2,5,22,47,9,26,13,18:100:100 +7 55229543 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1631+219T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55229543T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1225850;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4466;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.144325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51773959&COSV51773959&COSV51773959&COSV51773959&COSV51773959&COSV51773959;CSQ_COSMICncMuts=COSV51773959;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G277int&EGFR:G277intd&EGFR:G491int&EGFR:G491intd&EGFR:G499int&EGFR:G499intd&EGFR:G544int&EGFR:G544intd;CSQ_CADD_PHRED=5.697 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,27:135:0.2:65:-100:0.1346:5,8,0,7,2,5,22,47,9,26,13,18:100:100 +7 55233089 . C T 100 PASS DP=173;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1839C>T;CSQ_HGVSp=NP_005219.2:p.Ala613%3D;CSQ_HGVSg=7:g.55233089C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=360461;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=1685;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0544075;CSQ_gnomADe_AC=12701;CSQ_gnomADe_AN=246166;CSQ_gnomADe_AF=0.0515953;CSQ_gnomADe_Hom=378;CSQ_COSMICcMuts=COSV51776666&COSV51776666&COSV51776666&COSV51776666&COSV51776666&COSV51776666;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:A346A&EGFR:A560A&EGFR:A568A&EGFR:A613A;CSQ_CADD_PHRED=4.071 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,23:173:0.13295:65:-100:0.152:5,6,2,5,2,3,34,63,9,26,12,29:100:100 +7 55233089 . C T 100 PASS DP=173;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/16;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1839C>T;CSQ_HGVSp=NP_958439.1:p.Ala613%3D;CSQ_HGVSg=7:g.55233089C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=360461;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=1685;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0544075;CSQ_gnomADe_AC=12701;CSQ_gnomADe_AN=246166;CSQ_gnomADe_AF=0.0515953;CSQ_gnomADe_Hom=378;CSQ_COSMICcMuts=COSV51776666&COSV51776666&COSV51776666&COSV51776666&COSV51776666&COSV51776666;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:A346A&EGFR:A560A&EGFR:A568A&EGFR:A613A;CSQ_CADD_PHRED=4.071 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,23:173:0.13295:65:-100:0.152:5,6,2,5,2,3,34,63,9,26,12,29:100:100 +7 55233089 . C T 100 PASS DP=173;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/16;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1839C>T;CSQ_HGVSp=NP_958441.1:p.Ala613%3D;CSQ_HGVSg=7:g.55233089C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=360461;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=1685;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0544075;CSQ_gnomADe_AC=12701;CSQ_gnomADe_AN=246166;CSQ_gnomADe_AF=0.0515953;CSQ_gnomADe_Hom=378;CSQ_COSMICcMuts=COSV51776666&COSV51776666&COSV51776666&COSV51776666&COSV51776666&COSV51776666;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:A346A&EGFR:A560A&EGFR:A568A&EGFR:A613A;CSQ_CADD_PHRED=4.071 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,23:173:0.13295:65:-100:0.152:5,6,2,5,2,3,34,63,9,26,12,29:100:100 +7 55233185 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+55C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233185C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1229994;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1688;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0545044;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51776706&COSV51776706&COSV51776706&COSV51776706&COSV51776706&COSV51776706;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627intd;CSQ_CADD_PHRED=1.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,26:176:0.14773:65:-100:0.1244:5,8,2,3,3,5,32,58,15,27,15,29:100:100 +7 55233185 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1880+55C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233185C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1229994;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1688;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0545044;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51776706&COSV51776706&COSV51776706&COSV51776706&COSV51776706&COSV51776706;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627intd;CSQ_CADD_PHRED=1.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,26:176:0.14773:65:-100:0.1244:5,8,2,3,3,5,32,58,15,27,15,29:100:100 +7 55233185 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1880+55C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233185C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1229994;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1688;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0545044;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51776706&COSV51776706&COSV51776706&COSV51776706&COSV51776706&COSV51776706;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627intd;CSQ_CADD_PHRED=1.160 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,26:176:0.14773:65:-100:0.1244:5,8,2,3,3,5,32,58,15,27,15,29:100:100 +7 55233863 . A C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+733A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233863A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.242 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,28:131:0.21374:65:-100:0.2061:6,10,0,5,1,6,25,46,9,22,10,19:100:100 +7 55233863 . A C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1880+733A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233863A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.242 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,28:131:0.21374:65:-100:0.2061:6,10,0,5,1,6,25,46,9,22,10,19:100:100 +7 55233863 . A C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1880+733A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233863A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.242 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,28:131:0.21374:65:-100:0.2061:6,10,0,5,1,6,25,46,9,22,10,19:100:100 +7 55233949 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+819G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233949G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.000193723;CSQ_gnomADe_AC=35;CSQ_gnomADe_AN=171330;CSQ_gnomADe_AF=0.000204284;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.045 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1329:5,2,2,1,2,2,22,59,9,25,11,24:100:100 +7 55233949 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1880+819G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233949G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.000193723;CSQ_gnomADe_AC=35;CSQ_gnomADe_AN=171330;CSQ_gnomADe_AF=0.000204284;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.045 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1329:5,2,2,1,2,2,22,59,9,25,11,24:100:100 +7 55233949 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1880+819G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233949G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.000193723;CSQ_gnomADe_AC=35;CSQ_gnomADe_AN=171330;CSQ_gnomADe_AF=0.000204284;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.045 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1329:5,2,2,1,2,2,22,59,9,25,11,24:100:100 +7 55233996 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+866T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233996T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1349;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0435555;CSQ_gnomADe_AC=2032;CSQ_gnomADe_AN=193374;CSQ_gnomADe_AF=0.0105081;CSQ_gnomADe_Hom=136;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627intd;CSQ_CADD_PHRED=2.942 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,13:150:0.08667:65:-100:0.1573:1,5,3,1,0,3,28,55,11,27,11,18:100:100 +7 55233996 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1880+866T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233996T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1349;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0435555;CSQ_gnomADe_AC=2032;CSQ_gnomADe_AN=193374;CSQ_gnomADe_AF=0.0105081;CSQ_gnomADe_Hom=136;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627intd;CSQ_CADD_PHRED=2.942 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,13:150:0.08667:65:-100:0.1573:1,5,3,1,0,3,28,55,11,27,11,18:100:100 +7 55233996 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1880+866T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55233996T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1349;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0435555;CSQ_gnomADe_AC=2032;CSQ_gnomADe_AN=193374;CSQ_gnomADe_AF=0.0105081;CSQ_gnomADe_Hom=136;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627intd;CSQ_CADD_PHRED=2.942 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,13:150:0.08667:65:-100:0.1573:1,5,3,1,0,3,28,55,11,27,11,18:100:100 +7 55234332 . C T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+1202C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55234332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.968 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,12:180:0.06667:65:-100:0.3728:4,5,2,1,0,0,36,58,20,25,13,28:82.869:100 +7 55234332 . C T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1880+1202C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55234332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.968 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,12:180:0.06667:65:-100:0.3728:4,5,2,1,0,0,36,58,20,25,13,28:82.869:100 +7 55234332 . C T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1880+1202C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55234332C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.968 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,12:180:0.06667:65:-100:0.3728:4,5,2,1,0,0,36,58,20,25,13,28:82.869:100 +7 55235326 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+2196A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235326A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51825492&COSV51825492&COSV51825492&COSV51825492&COSV51825492&COSV51825492;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.611 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,10:159:0.06289:65:-46.5491:0.3205:0,3,3,1,0,3,29,41,21,25,15,28:83.84:100 +7 55235326 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1881-890A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235326A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51825492&COSV51825492&COSV51825492&COSV51825492&COSV51825492&COSV51825492;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.611 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,10:159:0.06289:65:-46.5491:0.3205:0,3,3,1,0,3,29,41,21,25,15,28:83.84:100 +7 55235326 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1880+2196A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235326A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51825492&COSV51825492&COSV51825492&COSV51825492&COSV51825492&COSV51825492;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.611 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,10:159:0.06289:65:-46.5491:0.3205:0,3,3,1,0,3,29,41,21,25,15,28:83.84:100 +7 55235345 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+2215C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235345C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3837;CSQ_gnomADg_AN=18264;CSQ_gnomADg_AF=0.210085;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51841580&COSV51841580&COSV51841580&COSV51841580&COSV51841580&COSV51841580;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,32:159:0.20126:65:-100:0.2933:8,9,4,6,2,3,31,40,21,29,17,21:100:100 +7 55235345 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1881-871C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235345C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3837;CSQ_gnomADg_AN=18264;CSQ_gnomADg_AF=0.210085;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51841580&COSV51841580&COSV51841580&COSV51841580&COSV51841580&COSV51841580;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,32:159:0.20126:65:-100:0.2933:8,9,4,6,2,3,31,40,21,29,17,21:100:100 +7 55235345 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1880+2215C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235345C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3837;CSQ_gnomADg_AN=18264;CSQ_gnomADg_AF=0.210085;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51841580&COSV51841580&COSV51841580&COSV51841580&COSV51841580&COSV51841580;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,32:159:0.20126:65:-100:0.2933:8,9,4,6,2,3,31,40,21,29,17,21:100:100 +7 55235791 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+2661G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235791G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.072 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,10:152:0.06579:65:-100:0.1214:4,4,0,0,1,1,27,53,11,22,15,24:97.699:100 +7 55235791 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1881-425G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235791G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.072 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,10:152:0.06579:65:-100:0.1214:4,4,0,0,1,1,27,53,11,22,15,24:97.699:100 +7 55235791 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-2209G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235791G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.072 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,10:152:0.06579:65:-100:0.1214:4,4,0,0,1,1,27,53,11,22,15,24:97.699:100 +7 55235804 . C A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1880+2674C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235804C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4495;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.145347;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51810572&COSV51810572&COSV51810572&COSV51810572&COSV51810572&COSV51810572;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627inta&EGFR:G627intd;CSQ_CADD_PHRED=0.338 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,36:167:0.21557:65:-100:0.1211:7,12,4,4,5,4,31,54,14,24,18,26:100:100 +7 55235804 . C A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201282.2;CSQ_HGVSc=NM_201282.2:c.1881-412C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235804C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4495;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.145347;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51810572&COSV51810572&COSV51810572&COSV51810572&COSV51810572&COSV51810572;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627inta&EGFR:G627intd;CSQ_CADD_PHRED=0.338 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,36:167:0.21557:65:-100:0.1211:7,12,4,4,5,4,31,54,14,24,18,26:100:100 +7 55235804 . C A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-2196C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55235804C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4495;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.145347;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51810572&COSV51810572&COSV51810572&COSV51810572&COSV51810572&COSV51810572;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360intd&EGFR:G574int&EGFR:G574intd&EGFR:G582int&EGFR:G582intd&EGFR:G627int&EGFR:G627inta&EGFR:G627intd;CSQ_CADD_PHRED=0.338 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,36:167:0.21557:65:-100:0.1211:7,12,4,4,5,4,31,54,14,24,18,26:100:100 +7 55236496 . T A 100 PASS DP=162;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-2372T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55236496T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1204260;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=272;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00877986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104368926&COSV104368926&COSV104368926&COSV104368926&COSV104368926;CSQ_COSMICncMuts=COSV104368926;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,28:162:0.17284:65:-100:0.105:3,11,0,4,7,3,32,46,21,29,11,23:100:100 +7 55236496 . T A 100 PASS DP=162;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55236496T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1204260;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=272;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00877986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104368926&COSV104368926&COSV104368926&COSV104368926&COSV104368926;CSQ_COSMICncMuts=COSV104368926;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,28:162:0.17284:65:-100:0.105:3,11,0,4,7,3,32,46,21,29,11,23:100:100 +7 55236496 . T A 100 PASS DP=162;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-1504T>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55236496T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1204260;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=272;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00877986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104368926&COSV104368926&COSV104368926&COSV104368926&COSV104368926;CSQ_COSMICncMuts=COSV104368926;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,28:162:0.17284:65:-100:0.105:3,11,0,4,7,3,32,46,21,29,11,23:100:100 +7 55236774 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-2094A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55236774A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26863;CSQ_gnomADg_AN=29932;CSQ_gnomADg_AF=0.897468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=1.362 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,124:132:0.93939:65:-100:0.2414:12,36,14,23,14,25,12,38,15,27,14,26:100:100 +7 55236774 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55236774A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26863;CSQ_gnomADg_AN=29932;CSQ_gnomADg_AF=0.897468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.362 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,124:132:0.93939:65:-100:0.2414:12,36,14,23,14,25,12,38,15,27,14,26:100:100 +7 55236774 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-1226A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55236774A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26863;CSQ_gnomADg_AN=29932;CSQ_gnomADg_AF=0.897468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=1.362 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,124:132:0.93939:65:-100:0.2414:12,36,14,23,14,25,12,38,15,27,14,26:100:100 +7 55237080 . T C 100 PASS DP=88;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-1788T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237080T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8598;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.278433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=0.337 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,31:88:0.35227:65:-100:0.2542:7,8,1,6,6,3,12,24,5,16,13,18:100:100 +7 55237080 . T C 100 PASS DP=88;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237080T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8598;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.278433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.337 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,31:88:0.35227:65:-100:0.2542:7,8,1,6,6,3,12,24,5,16,13,18:100:100 +7 55237080 . T C 100 PASS DP=88;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-920T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237080T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8598;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.278433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=0.337 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,31:88:0.35227:65:-100:0.2542:7,8,1,6,6,3,12,24,5,16,13,18:100:100 +7 55237101 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-1767T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237101T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8521;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.275939;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,39:111:0.35135:65:-100:0.2183:6,15,3,4,5,6,15,35,7,19,14,21:100:100 +7 55237101 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237101T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8521;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.275939;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,39:111:0.35135:65:-100:0.2183:6,15,3,4,5,6,15,35,7,19,14,21:100:100 +7 55237101 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-899T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237101T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8521;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.275939;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,39:111:0.35135:65:-100:0.2183:6,15,3,4,5,6,15,35,7,19,14,21:100:100 +7 55237158 . C A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-1710C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237158C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=449;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.014526;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.354 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,12:134:0.08955:65:-100:0.1572:2,4,2,0,1,3,22,36,20,21,12,23:100:100 +7 55237158 . C A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237158C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=449;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.014526;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.354 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,12:134:0.08955:65:-100:0.1572:2,4,2,0,1,3,22,36,20,21,12,23:100:100 +7 55237158 . C A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-842C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237158C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=449;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.014526;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.354 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,12:134:0.08955:65:-100:0.1572:2,4,2,0,1,3,22,36,20,21,12,23:100:100 +7 55237283 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-1585A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237283A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21449;CSQ_gnomADg_AN=30548;CSQ_gnomADg_AF=0.702141;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=1.621 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,113:150:0.75333:65:-100:0.1018:20,38,10,20,9,16,26,51,13,28,12,20:100:100 +7 55237283 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237283A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21449;CSQ_gnomADg_AN=30548;CSQ_gnomADg_AF=0.702141;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.621 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,113:150:0.75333:65:-100:0.1018:20,38,10,20,9,16,26,51,13,28,12,20:100:100 +7 55237283 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-717A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237283A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21449;CSQ_gnomADg_AN=30548;CSQ_gnomADg_AF=0.702141;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=1.621 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,113:150:0.75333:65:-100:0.1018:20,38,10,20,9,16,26,51,13,28,12,20:100:100 +7 55237441 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-1427G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237441G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.00203738;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.257 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,21:183:0.11475:65:-100:0.2112:5,7,0,2,2,5,29,57,14,37,14,32:100:100 +7 55237441 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237441G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.00203738;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.257 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,21:183:0.11475:65:-100:0.2112:5,7,0,2,2,5,29,57,14,37,14,32:100:100 +7 55237441 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/15;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1881-559G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55237441G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.00203738;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.257 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,21:183:0.11475:65:-100:0.2112:5,7,0,2,2,5,29,57,14,37,14,32:100:100 +7 55238087 . C T 100 PASS DP=188;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-781C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238087C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1241373;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3358;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.108617;CSQ_gnomADe_AC=19678;CSQ_gnomADe_AN=246220;CSQ_gnomADe_AF=0.0799204;CSQ_gnomADe_Hom=989;CSQ_COSMICcMuts=COSV51800626&COSV51800626&COSV51800626&COSV51800626&COSV51800626;CSQ_COSMICncMuts=COSV51800626;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta&EGFR:H656H;CSQ_CADD_PHRED=6.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,24:188:0.12766:65:-100:0.1376:4,8,3,5,3,1,20,68,24,30,17,29:100:100 +7 55238087 . C T 100 PASS DP=188;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238087C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1241373;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3358;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.108617;CSQ_gnomADe_AC=19678;CSQ_gnomADe_AN=246220;CSQ_gnomADe_AF=0.0799204;CSQ_gnomADe_Hom=989;CSQ_COSMICcMuts=COSV51800626&COSV51800626&COSV51800626&COSV51800626&COSV51800626;CSQ_COSMICncMuts=COSV51800626;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,24:188:0.12766:65:-100:0.1376:4,8,3,5,3,1,20,68,24,30,17,29:100:100 +7 55238087 . C T 100 PASS DP=188;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.1968C>T;CSQ_HGVSp=NP_958441.1:p.His656%3D;CSQ_HGVSg=7:g.55238087C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1241373;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3358;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.108617;CSQ_gnomADe_AC=19678;CSQ_gnomADe_AN=246220;CSQ_gnomADe_AF=0.0799204;CSQ_gnomADe_Hom=989;CSQ_COSMICcMuts=COSV51800626&COSV51800626&COSV51800626&COSV51800626&COSV51800626;CSQ_COSMICncMuts=COSV51800626;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta&EGFR:H656H;CSQ_CADD_PHRED=6.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,24:188:0.12766:65:-100:0.1376:4,8,3,5,3,1,20,68,24,30,17,29:100:100 +7 55238253 . G T 100 PASS DP=179;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-615G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238253G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=438;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.0141647;CSQ_gnomADe_AC=850;CSQ_gnomADe_AN=245152;CSQ_gnomADe_AF=0.00346724;CSQ_gnomADe_Hom=17;CSQ_COSMICcMuts=COSV104369175&COSV104369175&COSV104369175&COSV104369175&COSV104369175;CSQ_COSMICncMuts=COSV104369175;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:3UTR&EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=0.003 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,22:179:0.12291:65:-100:0.1517:3,2,1,8,3,5,32,58,17,28,18,26:100:100 +7 55238253 . G T 100 PASS DP=179;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238253G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=438;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.0141647;CSQ_gnomADe_AC=850;CSQ_gnomADe_AN=245152;CSQ_gnomADe_AF=0.00346724;CSQ_gnomADe_Hom=17;CSQ_COSMICcMuts=COSV104369175&COSV104369175&COSV104369175&COSV104369175&COSV104369175;CSQ_COSMICncMuts=COSV104369175;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.003 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,22:179:0.12291:65:-100:0.1517:3,2,1,8,3,5,32,58,17,28,18,26:100:100 +7 55238253 . G T 100 PASS DP=179;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.*16G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238253G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=438;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.0141647;CSQ_gnomADe_AC=850;CSQ_gnomADe_AN=245152;CSQ_gnomADe_AF=0.00346724;CSQ_gnomADe_Hom=17;CSQ_COSMICcMuts=COSV104369175&COSV104369175&COSV104369175&COSV104369175&COSV104369175;CSQ_COSMICncMuts=COSV104369175;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.003 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,22:179:0.12291:65:-100:0.1517:3,2,1,8,3,5,32,58,17,28,18,26:100:100 +7 55238268 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-600G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238268G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1289672;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9766;CSQ_gnomADg_AN=30804;CSQ_gnomADg_AF=0.317037;CSQ_gnomADe_AC=90430;CSQ_gnomADe_AN=244340;CSQ_gnomADe_AF=0.370099;CSQ_gnomADe_Hom=17479;CSQ_COSMICcMuts=COSV51829087&COSV51829087&COSV51829087&COSV51829087&COSV51829087;CSQ_COSMICncMuts=COSV51829087;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:3UTR&EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=0.015 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,44:171:0.25731:65:-100:0.1972:5,10,3,13,5,8,29,56,15,31,19,21:100:100 +7 55238268 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238268G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1289672;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9766;CSQ_gnomADg_AN=30804;CSQ_gnomADg_AF=0.317037;CSQ_gnomADe_AC=90430;CSQ_gnomADe_AN=244340;CSQ_gnomADe_AF=0.370099;CSQ_gnomADe_Hom=17479;CSQ_COSMICcMuts=COSV51829087&COSV51829087&COSV51829087&COSV51829087&COSV51829087;CSQ_COSMICncMuts=COSV51829087;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.015 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,44:171:0.25731:65:-100:0.1972:5,10,3,13,5,8,29,56,15,31,19,21:100:100 +7 55238268 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.*31G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238268G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1289672;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9766;CSQ_gnomADg_AN=30804;CSQ_gnomADg_AF=0.317037;CSQ_gnomADe_AC=90430;CSQ_gnomADe_AN=244340;CSQ_gnomADe_AF=0.370099;CSQ_gnomADe_Hom=17479;CSQ_COSMICcMuts=COSV51829087&COSV51829087&COSV51829087&COSV51829087&COSV51829087;CSQ_COSMICncMuts=COSV51829087;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.015 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,44:171:0.25731:65:-100:0.1972:5,10,3,13,5,8,29,56,15,31,19,21:100:100 +7 55238380 . A G 100 PASS DP=152;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-488A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238380A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1276760;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=503;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0162468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104369191&COSV104369191&COSV104369191&COSV104369191&COSV104369191;CSQ_COSMICncMuts=COSV104369191;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:3UTR&EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=0.581 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,19:152:0.125:65:-100:0.1461:1,5,1,2,4,6,24,51,11,29,13,24:100:100 +7 55238380 . A G 100 PASS DP=152;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238380A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1276760;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=503;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0162468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104369191&COSV104369191&COSV104369191&COSV104369191&COSV104369191;CSQ_COSMICncMuts=COSV104369191;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.581 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,19:152:0.125:65:-100:0.1461:1,5,1,2,4,6,24,51,11,29,13,24:100:100 +7 55238380 . A G 100 PASS DP=152;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.*143A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238380A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1276760;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=503;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0162468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104369191&COSV104369191&COSV104369191&COSV104369191&COSV104369191;CSQ_COSMICncMuts=COSV104369191;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.581 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,19:152:0.125:65:-100:0.1461:1,5,1,2,4,6,24,51,11,29,13,24:100:100 +7 55238464 . T G 100 PASS DP=173;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1881-404T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238464T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274013;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9882;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.319682;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99288767&COSV99288767&COSV99288767&COSV99288767&COSV99288767;CSQ_COSMICncMuts=COSV99288767;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:3UTR&EGFR:G360int&EGFR:G360inta&EGFR:G574int&EGFR:G574inta&EGFR:G582int&EGFR:G582inta&EGFR:G627int&EGFR:G627inta;CSQ_CADD_PHRED=0.190 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,45:173:0.26012:65:-100:0.1683:9,16,3,8,0,9,23,68,16,27,8,31:100:100 +7 55238464 . T G 100 PASS DP=173;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238464T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274013;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9882;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.319682;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99288767&COSV99288767&COSV99288767&COSV99288767&COSV99288767;CSQ_COSMICncMuts=COSV99288767;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.190 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,45:173:0.26012:65:-100:0.1683:9,16,3,8,0,9,23,68,16,27,8,31:100:100 +7 55238464 . T G 100 PASS DP=173;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=NM_201284.2:c.*227T>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238464T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274013;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9882;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.319682;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99288767&COSV99288767&COSV99288767&COSV99288767&COSV99288767;CSQ_COSMICncMuts=COSV99288767;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.190 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,45:173:0.26012:65:-100:0.1683:9,16,3,8,0,9,23,68,16,27,8,31:100:100 +7 55238874 . T A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.1887T>A;CSQ_HGVSp=NP_005219.2:p.Thr629%3D;CSQ_HGVSg=7:g.55238874T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259677;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=10325;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.33384;CSQ_gnomADe_AC=92507;CSQ_gnomADe_AN=246162;CSQ_gnomADe_AF=0.375797;CSQ_gnomADe_Hom=18027;CSQ_COSMICcMuts=COSV51770406&COSV51770406&COSV51770406&COSV51770406;CSQ_COSMICncMuts=COSV51770406&COSV51770406;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.05;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:T362T&EGFR:T576T&EGFR:T584T&EGFR:T629T;CSQ_CADD_PHRED=0.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,42:163:0.25767:65:-100:0.1554:5,14,7,6,4,6,28,50,17,29,12,27:100:100 +7 55238874 . T A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201282.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238874T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259677;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=10325;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.33384;CSQ_gnomADe_AC=92507;CSQ_gnomADe_AN=246162;CSQ_gnomADe_AF=0.375797;CSQ_gnomADe_Hom=18027;CSQ_COSMICcMuts=COSV51770406&COSV51770406&COSV51770406&COSV51770406;CSQ_COSMICncMuts=COSV51770406&COSV51770406;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.05;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,42:163:0.25767:65:-100:0.1554:5,14,7,6,4,6,28,50,17,29,12,27:100:100 +7 55238874 . T A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55238874T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259677;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=10325;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.33384;CSQ_gnomADe_AC=92507;CSQ_gnomADe_AN=246162;CSQ_gnomADe_AF=0.375797;CSQ_gnomADe_Hom=18027;CSQ_COSMICcMuts=COSV51770406&COSV51770406&COSV51770406&COSV51770406;CSQ_COSMICncMuts=COSV51770406&COSV51770406;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.05;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,42:163:0.25767:65:-100:0.1554:5,14,7,6,4,6,28,50,17,29,12,27:100:100 +7 55241707 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2155G>A;CSQ_HGVSp=NP_005219.2:p.Gly719Ser;CSQ_HGVSg=7:g.55241707G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=16612;CSQ_ClinVar_CLNSIG=Uncertain_significance&drug_response;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Non-small_cell_lung_carcinoma&Neoplasm_of_the_large_intestine&Nonsmall_cell_lung_cancer&_response_to_tyrosine_kinase_inhibitor_in&_somatic&EGFR-related_lung_cancer&Tyrosine_kinase_inhibitor_response;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51767289&COSV51767289&COSV51767289&COSV51767289;CSQ_COSMICncMuts=COSV51767289;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=0.853;CSQ_Mastermind_MMID3=EGFR:G452S&EGFR:G666S&EGFR:G674S&EGFR:G719S;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,12:125:0.096:65:-100:0.1259:2,7,0,2,0,1,20,44,8,19,6,28:100:100 +7 55241707 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55241707G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=16612;CSQ_ClinVar_CLNSIG=Uncertain_significance&drug_response;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Non-small_cell_lung_carcinoma&Neoplasm_of_the_large_intestine&Nonsmall_cell_lung_cancer&_response_to_tyrosine_kinase_inhibitor_in&_somatic&EGFR-related_lung_cancer&Tyrosine_kinase_inhibitor_response;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51767289&COSV51767289&COSV51767289&COSV51767289;CSQ_COSMICncMuts=COSV51767289;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,12:125:0.096:65:-100:0.1259:2,7,0,2,0,1,20,44,8,19,6,28:100:100 +7 55242464 . AGGAATTAAGAGAAGC A 100 PASS DP=152;CSQ_Allele=-;CSQ_SYMBOL=EGFR;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=19/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2235_2249del;CSQ_HGVSp=NP_005219.2:p.Glu746_Ala750del;CSQ_HGVSg=7:g.55242465_55242479del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=163343;CSQ_ClinVar_CLNSIG=Pathogenic&drug_response;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lung_cancer&Tyrosine_kinase_inhibitor_response;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51765119&COSV51765119&COSV51765119&COSV51765119;CSQ_COSMICncMuts=COSV51765119&COSV51765119;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.1 GT:GQ:AD:DP:VF:NL:SB:NC:US 0/1:100:143,9:152:0.05921:65:-100:0.3944:0,0,0,0,0,0,0,0,0,0,0,0 +7 55242464 . AGGAATTAAGAGAAGC A 100 PASS DP=152;CSQ_Allele=-;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55242465_55242479del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=163343;CSQ_ClinVar_CLNSIG=Pathogenic&drug_response;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lung_cancer&Tyrosine_kinase_inhibitor_response;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51765119&COSV51765119&COSV51765119&COSV51765119;CSQ_COSMICncMuts=COSV51765119&COSV51765119;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.1 GT:GQ:AD:DP:VF:NL:SB:NC:US 0/1:100:143,9:152:0.05921:65:-100:0.3944:0,0,0,0,0,0,0,0,0,0,0,0 +7 55242609 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+96A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55242609A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1238213;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7937;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.256944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99288774&COSV99288774&COSV99288774&COSV99288774;CSQ_COSMICncMuts=COSV99288774&COSV99288774;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494intd&EGFR:D708int&EGFR:D708intd&EGFR:D716int&EGFR:D716intd&EGFR:D761int&EGFR:D761intd;CSQ_CADD_PHRED=1.745 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,46:133:0.34586:65:-100:0.1688:3,21,4,6,0,12,15,58,10,26,2,22:100:100 +7 55242609 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55242609A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1238213;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7937;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.256944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99288774&COSV99288774&COSV99288774&COSV99288774;CSQ_COSMICncMuts=COSV99288774&COSV99288774;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.745 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,46:133:0.34586:65:-100:0.1688:3,21,4,6,0,12,15,58,10,26,2,22:100:100 +7 55242776 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+263G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55242776G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=429;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0138503;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104369214&COSV104369214&COSV104369214&COSV104369214;CSQ_COSMICncMuts=COSV104369214&COSV104369214;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.324 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,16:161:0.09938:65:-100:0.1436:3,3,0,6,3,1,32,50,8,28,12,31:100:100 +7 55242776 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55242776G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=429;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0138503;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104369214&COSV104369214&COSV104369214&COSV104369214;CSQ_COSMICncMuts=COSV104369214&COSV104369214;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.324 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,16:161:0.09938:65:-100:0.1436:3,3,0,6,3,1,32,50,8,28,12,31:100:100 +7 55242782 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+269T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55242782T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1273426;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=22537;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.728504;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494intd&EGFR:D708int&EGFR:D708intd&EGFR:D716int&EGFR:D716intd&EGFR:D761int&EGFR:D761intd;CSQ_CADD_PHRED=1.598 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,115:160:0.71875:65:-100:0.1534:23,29,3,25,9,26,31,46,9,31,12,31:100:100 +7 55242782 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55242782T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1273426;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=22537;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.728504;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.598 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,115:160:0.71875:65:-100:0.1534:23,29,3,25,9,26,31,46,9,31,12,31:100:100 +7 55243723 . A T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+1210A>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55243723A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.000355045;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,8:150:0.05333:65:-100:0.1429:1,4,1,1,1,0,21,48,14,29,13,25:100:100 +7 55243723 . A T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_201284.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55243723A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.000355045;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,8:150:0.05333:65:-100:0.1429:1,4,1,1,1,0,21,48,14,29,13,25:100:100 +7 55243754 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+1241A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55243754A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7627;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.246509;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51773967&COSV51773967&COSV51773967&COSV51773967;CSQ_COSMICncMuts=COSV51773967;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494intd&EGFR:D708int&EGFR:D708intd&EGFR:D716int&EGFR:D716intd&EGFR:D761int&EGFR:D761intd;CSQ_CADD_PHRED=6.626 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,19:157:0.12102:65:-100:0.113:2,7,2,3,1,4,19,55,14,29,12,28:100:100 +7 55243809 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+1296C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55243809C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9488;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.306698;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.632 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,43:163:0.2638:65:-100:0.1283:8,12,3,10,2,8,30,47,10,35,15,26:100:100 +7 55244414 . G A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+1901G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55244414G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9686;CSQ_gnomADg_AN=29668;CSQ_gnomADg_AF=0.32648;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.335 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,41:98:0.41837:65:-100:0.1901:5,14,5,4,4,9,14,39,9,11,10,15:100:100 +7 55244480 . A G 100 PASS DP=75;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+1967A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55244480A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,10:75:0.13333:65:-100:0.2021:2,3,2,0,2,1,11,18,10,15,9,12:100:100 +7 55244509 . TGATATATATTTAGAGA T 100 PASS DP=47;CSQ_Allele=-;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+2029_2283+2044del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55244542_55244557del;CSQ_HGVS_OFFSET=32;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.533 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,2:47:0.04255:65:-49.6853:0:0,1,1,0,0,0,6,17,8,8,5,7:100:62.823 +7 55244738 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+2225C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55244738C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10141;CSQ_gnomADg_AN=30744;CSQ_gnomADg_AF=0.329853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494intd&EGFR:D708int&EGFR:D708intd&EGFR:D716int&EGFR:D716intd&EGFR:D761int&EGFR:D761intd;CSQ_CADD_PHRED=1.308 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,66:142:0.46479:65:-100:0.1839:13,18,6,14,9,6,25,44,12,23,21,17:100:100 +7 55245364 . G C 100 PASS DP=177;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+2851G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55245364G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7932;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.256599;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494intd&EGFR:D708int&EGFR:D708intd&EGFR:D716int&EGFR:D716intd&EGFR:D761int&EGFR:D761intd;CSQ_CADD_PHRED=0.524 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,58:177:0.32768:65:-100:0.1238:6,23,6,5,3,15,24,62,22,18,16,35:100:100 +7 55245507 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+2994A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55245507A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13862;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.448405;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494intd&EGFR:D708int&EGFR:D708intd&EGFR:D716int&EGFR:D716intd&EGFR:D761int&EGFR:D761intd;CSQ_CADD_PHRED=7.738 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,88:146:0.60274:65:-100:0.1705:17,29,11,14,6,11,23,44,15,29,9,26:100:100 +7 55245647 . T C 100 PASS DP=170;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+3134T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55245647T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7716;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.249467;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494intd&EGFR:D708int&EGFR:D708intd&EGFR:D716int&EGFR:D716intd&EGFR:D761int&EGFR:D761intd;CSQ_CADD_PHRED=12.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,57:170:0.33529:65:-100:0.1414:7,26,6,10,4,4,28,69,12,24,12,25:100:100 +7 55245717 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2283+3204G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55245717G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3844;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.124466;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51804247&COSV51804247&COSV51804247&COSV51804247;CSQ_COSMICncMuts=COSV51804247;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494intd&EGFR:D708int&EGFR:D708intd&EGFR:D716int&EGFR:D716intd&EGFR:D761int&EGFR:D761intd;CSQ_CADD_PHRED=11.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,23:131:0.17557:65:-100:0.1548:0,12,0,8,1,2,15,49,11,22,14,20:100:100 +7 55246217 . C A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-2769C>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55246217C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=391;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0126333;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=0.783 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,21:146:0.14384:65:-100:0.1609:2,8,0,2,3,6,14,61,10,23,9,29:100:100 +7 55246220 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-2766G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55246220G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7938;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.257026;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,50:141:0.35461:65:-100:0.1402:4,27,2,8,2,7,14,58,9,25,9,26:100:100 +7 55246664 . G C 100 PASS DP=177;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-2322G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55246664G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4069;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.131504;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51804259&COSV51804259&COSV51804259&COSV51804259;CSQ_COSMICncMuts=COSV51804259;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=6.033 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,24:177:0.13559:65:-100:0.1408:1,7,5,2,2,7,23,58,20,29,13,34:100:100 +7 55246877 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-2109A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55246877A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6860;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.221705;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51773989&COSV51773989&COSV51773989&COSV51773989;CSQ_COSMICncMuts=COSV51773989;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=0.355 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,13:158:0.08228:65:-100:0.1505:0,6,2,0,1,4,22,58,8,30,12,28:100:100 +7 55247334 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1652C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247334C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15082;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.488533;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=4.548 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,86:163:0.52761:65:-100:0.1684:15,32,6,12,7,14,25,58,14,24,13,29:100:100 +7 55247429 . G A 100 PASS DP=173;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1557G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247429G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10513;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.340315;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=3.572 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,44:173:0.25434:65:-100:0.1218:6,14,2,10,5,7,23,60,11,27,18,34:100:100 +7 55247429 . G T 100 PASS DP=173;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1557G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247429G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3563;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.115337;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51804273&COSV51804273&COSV51804273&COSV51804273;CSQ_COSMICncMuts=COSV51804273;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=2.763 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,29:173:0.16763:65:-100:0.1218:6,6,2,3,3,9,23,60,11,27,18,34:100:100 +7 55247532 . C T 100 PASS DP=189;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1454C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247532C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25642;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.828765;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.325 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,154:189:0.81481:65:-100:0.1168:31,53,11,22,17,20,36,70,12,28,20,23:100:100 +7 55247588 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1398G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247588G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13001;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.420826;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51773998&COSV51773998&COSV51773998&COSV51773998;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=0.576 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,58:155:0.37419:65:-100:0.1969:12,18,5,8,4,11,30,59,11,14,10,31:100:100 +7 55247610 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1376C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247610C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4665;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.150854;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51791019&COSV51791019&COSV51791019&COSV51791019;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=0.700 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,13:160:0.08125:65:-100:0.171:3,6,1,0,0,3,25,66,12,18,9,30:100:100 +7 55247685 . A C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1301A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247685A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2055;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0664876;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51857614&COSV51857614&COSV51857614&COSV51857614;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,20:136:0.14706:65:-100:0.2:2,9,5,1,1,2,18,52,16,19,6,25:100:100 +7 55247782 . C T 100 PASS DP=174;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1204C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247782C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2283;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0737737;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51794435&COSV51794435&COSV51794435&COSV51794435;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=0.080 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,31:174:0.17816:65:-100:0.1907:4,12,4,8,1,2,28,63,25,28,10,20:100:100 +7 55247960 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-1026C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55247960C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5627;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.181986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51775048&COSV51775048&COSV51775048&COSV51775048;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=1.376 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,45:147:0.30612:65:-100:0.087:6,15,7,6,4,7,22,48,16,23,12,26:100:100 +7 55248231 . A G 100 PASS DP=182;CSQ_Allele=G;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-755A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55248231A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17058;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.551896;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=1.960 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,63:182:0.34615:65:-100:0.1495:7,29,5,7,3,12,20,68,20,29,19,26:100:100 +7 55248488 . G A 100 PASS DP=195;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-498G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55248488G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16766;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.543187;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.015 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,55:195:0.28205:65:-100:0.1631:9,18,4,8,5,11,33,62,15,35,17,33:100:100 +7 55248787 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-199T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55248787T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1276464;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=17131;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.554724;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=0.446 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,50:162:0.30864:65:-100:0.1196:3,24,1,8,3,11,18,60,11,32,11,30:100:100 +7 55248926 . T C 100 PASS DP=165;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2284-60T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55248926T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1289881;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6535;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.211325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51775300&COSV51775300&COSV51775300&COSV51775300;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D494int&EGFR:D494inta&EGFR:D708int&EGFR:D708inta&EGFR:D716int&EGFR:D716inta&EGFR:D761int&EGFR:D761inta;CSQ_CADD_PHRED=4.739 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,19:165:0.11515:65:-100:0.1624:4,5,1,2,2,5,23,55,14,29,21,23:100:100 +7 55248998 . A ATGGCCAGCG 100 PASS DP=191;CSQ_Allele=CCAGCGTGG;CSQ_SYMBOL=EGFR;CSQ_Consequence=inframe_insertion;CSQ_IMPACT=MODERATE;CSQ_EXON=20/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2300_2308dup;CSQ_HGVSp=NP_005219.2:p.Ala767_Val769dup;CSQ_HGVSg=.;CSQ_HGVS_OFFSET=12;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:185,6:191:0.03141:65:-45.5552:0:1,3,0,1,0,1,34,60,14,24,21,37:62.644:100 +7 55249006 . C A 42 LowSupport;rescued DP=194;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2304C>A;CSQ_HGVSp=NP_005219.2:p.Ser768Arg;CSQ_HGVSg=7:g.55249006C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=0.558;CSQ_Mastermind_MMID3=EGFR:S768R;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:42:193,1:194:0.00515:65:-44.8296:0.1454:0,0,0,0,0,1,34,61,12,29,22,36:5.818:0 +7 55249063 . G A 100 PASS DP=190;CSQ_Allele=A;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2361G>A;CSQ_HGVSp=NP_005219.2:p.Gln787%3D;CSQ_HGVSg=7:g.55249063G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=45271;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Lung_carcinoma&Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=15459;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.500518;CSQ_gnomADe_AC=129012;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=0.524004;CSQ_gnomADe_Hom=35859;CSQ_COSMICcMuts=COSV51769407&COSV51769407&COSV51769407&COSV51769407;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:Q520Q&EGFR:Q734Q&EGFR:Q742Q&EGFR:Q787Q;CSQ_CADD_PHRED=18.43 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,57:190:0.3:65:-100:0.1244:5,20,2,8,10,12,20,73,13,29,21,34:100:100 +7 55266417 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2709T>C;CSQ_HGVSp=NP_005219.2:p.Thr903%3D;CSQ_HGVSg=7:g.55266417T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166017;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inflammatory_skin_and_bowel_disease&_neonatal&_2&EGFR-related_lung_cancer;CSQ_gnomADg_AC=27629;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.892237;CSQ_gnomADe_AC=220261;CSQ_gnomADe_AN=246248;CSQ_gnomADe_AF=0.894468;CSQ_gnomADe_Hom=98645;CSQ_COSMICcMuts=COSV51770428&COSV51770428&COSV51770428&COSV51770428;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:T636T&EGFR:T850T&EGFR:T858T&EGFR:T903T;CSQ_CADD_PHRED=6.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,104:121:0.8595:65:-100:0.1597:16,28,14,18,7,21,18,32,15,25,8,23:100:100 +7 55268916 . C T 100 PASS DP=200;CSQ_Allele=T;CSQ_SYMBOL=EGFR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.2982C>T;CSQ_HGVSp=NP_005219.2:p.Asp994%3D;CSQ_HGVSg=7:g.55268916C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259679;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=EGFR-related_lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=3127;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.101001;CSQ_gnomADe_AC=34020;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.138144;CSQ_gnomADe_Hom=2944;CSQ_COSMICcMuts=COSV51772678&COSV51772678&COSV51772678&COSV51772678;CSQ_COSMICncMuts=COSV51772678;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.17;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:D727D&EGFR:D941D&EGFR:D949D&EGFR:D994D;CSQ_CADD_PHRED=11.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:188,12:200:0.06:65:-100:0.1416:5,2,2,1,0,2,34,62,20,28,17,39:100:100 +7 55268980 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=EGFR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=25/28;CSQ_INTRON=.;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.3046T>C;CSQ_HGVSp=NP_005219.2:p.Tyr1016His;CSQ_HGVSg=7:g.55268980T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.822;CSQ_Mastermind_MMID3=EGFR:Y1016H;CSQ_CADD_PHRED=29.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,12:168:0.07143:65:-100:0.1385:4,2,2,1,3,0,31,51,12,29,17,28:100:100 +7 55272496 . TAC T 100 PASS DP=154;CSQ_Allele=-;CSQ_SYMBOL=EGFR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=27/27;CSQ_Feature=NM_005228.5;CSQ_HGVSc=NM_005228.5:c.3272-446_3272-445del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.55272503_55272504del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EGFR:E1091int&EGFR:E1091inta;CSQ_CADD_PHRED=3.234 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,19:154:0.12338:65:-100:0:2,6,2,5,1,3,23,45,25,25,18,21:100:100 +7 77756580 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/21;CSQ_INTRON=.;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.3315A>G;CSQ_HGVSp=NP_001288057.1:p.Leu1105%3D;CSQ_HGVSg=7:g.77756580T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129565;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Nephrotic_syndrome_15¬_specified¬_provided;CSQ_gnomADg_AC=26962;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.871541;CSQ_gnomADe_AC=197802;CSQ_gnomADe_AN=242438;CSQ_gnomADe_AF=0.815887;CSQ_gnomADe_Hom=81934;CSQ_COSMICcMuts=COSV62668799&COSV62668799&COSV62668799;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAGI2:L1105L&MAGI2:L1119L;CSQ_CADD_PHRED=10.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,120:162:0.74074:65:-100:0.1518:18,44,12,16,8,22,29,54,17,24,12,26:100:100 +7 77756580 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/22;CSQ_INTRON=.;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.3357A>G;CSQ_HGVSp=NP_036433.2:p.Leu1119%3D;CSQ_HGVSg=7:g.77756580T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129565;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Nephrotic_syndrome_15¬_specified¬_provided;CSQ_gnomADg_AC=26962;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.871541;CSQ_gnomADe_AC=197802;CSQ_gnomADe_AN=242438;CSQ_gnomADe_AF=0.815887;CSQ_gnomADe_Hom=81934;CSQ_COSMICcMuts=COSV62668799&COSV62668799&COSV62668799;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAGI2:L1105L&MAGI2:L1119L;CSQ_CADD_PHRED=10.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,120:162:0.74074:65:-100:0.1518:18,44,12,16,8,22,29,54,17,24,12,26:100:100 +7 77756724 . C T 100 PASS DP=173;CSQ_Allele=T;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/21;CSQ_INTRON=.;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.3171G>A;CSQ_HGVSp=NP_001288057.1:p.Ser1057%3D;CSQ_HGVSg=7:g.77756724C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129564;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Nephrotic_syndrome_15¬_specified¬_provided;CSQ_gnomADg_AC=26962;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.871485;CSQ_gnomADe_AC=193201;CSQ_gnomADe_AN=237294;CSQ_gnomADe_AF=0.814184;CSQ_gnomADe_Hom=79842;CSQ_COSMICcMuts=COSV62650317&COSV62650317&COSV62650317;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAGI2:S1057S&MAGI2:S1071S;CSQ_CADD_PHRED=7.599 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,135:173:0.78035:65:-100:0.1393:18,44,16,21,12,24,26,57,18,30,12,30:100:100 +7 77756724 . C T 100 PASS DP=173;CSQ_Allele=T;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/22;CSQ_INTRON=.;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.3213G>A;CSQ_HGVSp=NP_036433.2:p.Ser1071%3D;CSQ_HGVSg=7:g.77756724C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129564;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Nephrotic_syndrome_15¬_specified¬_provided;CSQ_gnomADg_AC=26962;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.871485;CSQ_gnomADe_AC=193201;CSQ_gnomADe_AN=237294;CSQ_gnomADe_AF=0.814184;CSQ_gnomADe_Hom=79842;CSQ_COSMICcMuts=COSV62650317&COSV62650317&COSV62650317;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAGI2:S1057S&MAGI2:S1071S;CSQ_CADD_PHRED=7.599 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,135:173:0.78035:65:-100:0.1393:18,44,16,21,12,24,26,57,18,30,12,30:100:100 +7 77789528 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=MAGI2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/21;CSQ_INTRON=.;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.2617C>T;CSQ_HGVSp=NP_001288057.1:p.Arg873Cys;CSQ_HGVSg=7:g.77789528G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=244374;CSQ_gnomADe_AF=1.22763e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62637013&COSV62637013&COSV62637013;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.198;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,15:156:0.09615:65:-100:0.1429:3,6,0,4,0,2,29,49,12,26,13,27:100:100 +7 77789528 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=MAGI2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/22;CSQ_INTRON=.;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.2659C>T;CSQ_HGVSp=NP_036433.2:p.Arg887Cys;CSQ_HGVSg=7:g.77789528G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=244374;CSQ_gnomADe_AF=1.22763e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62637013&COSV62637013&COSV62637013;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.198;CSQ_Mastermind_MMID3=MAGI2:R887C;CSQ_CADD_PHRED=30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,15:156:0.09615:65:-100:0.1429:3,6,0,4,0,2,29,49,12,26,13,27:100:100 +7 77789570 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=MAGI2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/21;CSQ_INTRON=.;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.2575G>A;CSQ_HGVSp=NP_001288057.1:p.Gly859Arg;CSQ_HGVSg=7:g.77789570C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=8;CSQ_gnomADe_AN=234356;CSQ_gnomADe_AF=3.41361e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62709914&COSV62709914&COSV62709914;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=0.242;CSQ_Mastermind_MMID3=MAGI2:G859R&MAGI2:G873R;CSQ_CADD_PHRED=23.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,11:159:0.06918:65:-100:0.0862:3,5,0,2,1,0,26,59,14,24,15,21:100:100 +7 77789570 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=MAGI2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/22;CSQ_INTRON=.;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.2617G>A;CSQ_HGVSp=NP_036433.2:p.Gly873Arg;CSQ_HGVSg=7:g.77789570C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=8;CSQ_gnomADe_AN=234356;CSQ_gnomADe_AF=3.41361e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62709914&COSV62709914&COSV62709914;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=0.242;CSQ_Mastermind_MMID3=MAGI2:G859R&MAGI2:G873R;CSQ_CADD_PHRED=23.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,11:159:0.06918:65:-100:0.0862:3,5,0,2,1,0,26,59,14,24,15,21:100:100 +7 77797349 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=MAGI2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/21;CSQ_INTRON=.;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.2438A>G;CSQ_HGVSp=NP_001288057.1:p.Tyr813Cys;CSQ_HGVSg=7:g.77797349T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62692628&COSV62692628&COSV62692628;CSQ_COSMICncMuts=COSV62692628;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.168;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,15:167:0.08982:65:-100:0.107:4,4,0,4,1,2,26,65,12,36,8,20:100:100 +7 77797349 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=MAGI2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/22;CSQ_INTRON=.;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.2480A>G;CSQ_HGVSp=NP_036433.2:p.Tyr827Cys;CSQ_HGVSg=7:g.77797349T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62692628&COSV62692628&COSV62692628;CSQ_COSMICncMuts=COSV62692628;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.168;CSQ_Mastermind_MMID3=MAGI2:Y827C;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,15:167:0.08982:65:-100:0.107:4,4,0,4,1,2,26,65,12,36,8,20:100:100 +7 77824190 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=MAGI2;CSQ_Consequence=splice_donor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=12/20;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.2269+1G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.77824190C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=231776;CSQ_gnomADe_AF=8.62902e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62635842&COSV62635842&COSV62635842;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.68;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,10:144:0.06944:65:-96.7521:0.1676:2,4,0,2,1,1,19,53,10,33,16,13:98.877:100 +7 77824190 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=MAGI2;CSQ_Consequence=splice_donor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=12/21;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.2269+1G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.77824190C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=231776;CSQ_gnomADe_AF=8.62902e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62635842&COSV62635842&COSV62635842;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.68;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,10:144:0.06944:65:-96.7521:0.1676:2,4,0,2,1,1,19,53,10,33,16,13:98.877:100 +7 77885552 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/21;CSQ_INTRON=.;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.1755C>T;CSQ_HGVSp=NP_001288057.1:p.Pro585%3D;CSQ_HGVSg=7:g.77885552G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95509;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=562;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0181454;CSQ_gnomADe_AC=5521;CSQ_gnomADe_AN=245368;CSQ_gnomADe_AF=0.0225009;CSQ_gnomADe_Hom=110;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAGI2:P585P;CSQ_CADD_PHRED=9.125 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,7:153:0.04575:65:-96.6195:0.1547:3,2,0,1,1,0,29,50,19,21,13,21:64.042:100 +7 77885552 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/22;CSQ_INTRON=.;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.1755C>T;CSQ_HGVSp=NP_036433.2:p.Pro585%3D;CSQ_HGVSg=7:g.77885552G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95509;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=562;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0181454;CSQ_gnomADe_AC=5521;CSQ_gnomADe_AN=245368;CSQ_gnomADe_AF=0.0225009;CSQ_gnomADe_Hom=110;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAGI2:P585P;CSQ_CADD_PHRED=9.125 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,7:153:0.04575:65:-96.6195:0.1547:3,2,0,1,1,0,29,50,19,21,13,21:64.042:100 +7 78119109 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/21;CSQ_INTRON=.;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.1014G>A;CSQ_HGVSp=NP_001288057.1:p.Lys338%3D;CSQ_HGVSg=7:g.78119109C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129557;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=10092;CSQ_gnomADg_AN=30776;CSQ_gnomADg_AF=0.327918;CSQ_gnomADe_AC=70434;CSQ_gnomADe_AN=244772;CSQ_gnomADe_AF=0.287754;CSQ_gnomADe_Hom=10493;CSQ_COSMICcMuts=COSV62640934&COSV62640934&COSV62640934&COSV62640934&COSV62640934;CSQ_COSMICncMuts=COSV62640934;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAGI2:K338K;CSQ_CADD_PHRED=12.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,21:153:0.13725:65:-100:0.1453:5,9,3,1,0,3,28,60,11,23,8,23:100:100 +7 78119109 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/22;CSQ_INTRON=.;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.1014G>A;CSQ_HGVSp=NP_036433.2:p.Lys338%3D;CSQ_HGVSg=7:g.78119109C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129557;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=10092;CSQ_gnomADg_AN=30776;CSQ_gnomADg_AF=0.327918;CSQ_gnomADe_AC=70434;CSQ_gnomADe_AN=244772;CSQ_gnomADe_AF=0.287754;CSQ_gnomADe_Hom=10493;CSQ_COSMICcMuts=COSV62640934&COSV62640934&COSV62640934&COSV62640934&COSV62640934;CSQ_COSMICncMuts=COSV62640934;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAGI2:K338K;CSQ_CADD_PHRED=12.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,21:153:0.13725:65:-100:0.1453:5,9,3,1,0,3,28,60,11,23,8,23:100:100 +7 79082544 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/21;CSQ_INTRON=.;CSQ_Feature=NM_001301128.2;CSQ_HGVSc=NM_001301128.2:c.93A>G;CSQ_HGVSp=NP_001288057.1:p.Glu31%3D;CSQ_HGVSg=7:g.79082544T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62644370&COSV62644370&COSV62644370;CSQ_COSMICncMuts=COSV62644370&COSV62644370&COSV62644370&COSV62644370&COSV62644370&COSV62644370;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,7:144:0.04861:65:-100:0.1955:1,4,0,0,2,0,26,55,9,21,12,21:85.315:100 +7 79082544 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=MAGI2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/22;CSQ_INTRON=.;CSQ_Feature=NM_012301.4;CSQ_HGVSc=NM_012301.4:c.93A>G;CSQ_HGVSp=NP_036433.2:p.Glu31%3D;CSQ_HGVSg=7:g.79082544T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62644370&COSV62644370&COSV62644370;CSQ_COSMICncMuts=COSV62644370&COSV62644370&COSV62644370&COSV62644370&COSV62644370&COSV62644370;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,7:144:0.04861:65:-100:0.1955:1,4,0,0,2,0,26,55,9,21,12,21:85.315:100 +7 81388042 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=HGF;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/18;CSQ_INTRON=.;CSQ_Feature=NM_000601.6;CSQ_HGVSc=NM_000601.6:c.333A>G;CSQ_HGVSp=NP_000592.3:p.Glu111%3D;CSQ_HGVSg=7:g.81388042T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=43609;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified&Nonsyndromic_Hearing_Loss&_Mixed¬_provided;CSQ_gnomADg_AC=2686;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0868693;CSQ_gnomADe_AC=8767;CSQ_gnomADe_AN=246022;CSQ_gnomADe_AF=0.035635;CSQ_gnomADe_Hom=762;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HGF:E111E;CSQ_CADD_PHRED=7.224 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,7:119:0.05882:65:-100:0.1377:1,1,1,2,0,2,19,36,15,16,8,25:96.46:100 +7 81388042 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=HGF;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_001010931.3;CSQ_HGVSc=NM_001010931.3:c.333A>G;CSQ_HGVSp=NP_001010931.1:p.Glu111%3D;CSQ_HGVSg=7:g.81388042T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=43609;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified&Nonsyndromic_Hearing_Loss&_Mixed¬_provided;CSQ_gnomADg_AC=2686;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0868693;CSQ_gnomADe_AC=8767;CSQ_gnomADe_AN=246022;CSQ_gnomADe_AF=0.035635;CSQ_gnomADe_Hom=762;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HGF:E111E;CSQ_CADD_PHRED=7.224 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,7:119:0.05882:65:-100:0.1377:1,1,1,2,0,2,19,36,15,16,8,25:96.46:100 +7 81388042 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=HGF;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/5;CSQ_INTRON=.;CSQ_Feature=NM_001010934.3;CSQ_HGVSc=NM_001010934.3:c.333A>G;CSQ_HGVSp=NP_001010934.1:p.Glu111%3D;CSQ_HGVSg=7:g.81388042T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=43609;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified&Nonsyndromic_Hearing_Loss&_Mixed¬_provided;CSQ_gnomADg_AC=2686;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0868693;CSQ_gnomADe_AC=8767;CSQ_gnomADe_AN=246022;CSQ_gnomADe_AF=0.035635;CSQ_gnomADe_Hom=762;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HGF:E111E;CSQ_CADD_PHRED=7.224 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,7:119:0.05882:65:-100:0.1377:1,1,1,2,0,2,19,36,15,16,8,25:96.46:100 +7 86415987 . C T 100 PASS DP=213;CSQ_Allele=T;CSQ_SYMBOL=GRM3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_000840.3;CSQ_HGVSc=NM_000840.3:c.879C>T;CSQ_HGVSp=NP_000831.2:p.Ala293%3D;CSQ_HGVSg=7:g.86415987C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1406;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0454076;CSQ_gnomADe_AC=16494;CSQ_gnomADe_AN=242144;CSQ_gnomADe_AF=0.0681165;CSQ_gnomADe_Hom=695;CSQ_COSMICcMuts=COSV64468992&COSV64468992&COSV64468992&COSV64468992&COSV64468992;CSQ_COSMICncMuts=COSV64468992&COSV64468992;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GRM3:A293A;CSQ_CADD_PHRED=11.66 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,34:213:0.15962:65:-100:0.0975:6,10,4,4,3,7,33,65,24,35,16,40:100:100 +7 86416100 . G T 100 PASS DP=179;CSQ_Allele=T;CSQ_SYMBOL=GRM3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_000840.3;CSQ_HGVSc=NM_000840.3:c.992G>T;CSQ_HGVSp=NP_000831.2:p.Arg331Leu;CSQ_HGVSg=7:g.86416100G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.314;CSQ_Mastermind_MMID3=GRM3:R331L;CSQ_CADD_PHRED=22.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,24:179:0.13408:65:-100:0.1674:3,12,0,4,1,4,25,77,7,28,11,31:100:100 +7 86468231 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=GRM3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_000840.3;CSQ_HGVSc=NM_000840.3:c.1401C>T;CSQ_HGVSp=NP_000831.2:p.Asn467%3D;CSQ_HGVSg=7:g.86468231C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245784;CSQ_gnomADe_AF=8.13723e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV64469657&COSV64469657&COSV64469657&COSV64469657&COSV64469657;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,8:147:0.05442:65:-100:0.1503:1,3,0,2,1,1,20,54,22,27,6,18:73.062:100 +7 92277315 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=CDK6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/7;CSQ_Feature=NM_001145306.2;CSQ_HGVSc=NM_001145306.2:c.647+23425C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.92277315G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6370;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.205882;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56009076&COSV56009076;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDK6:K216int&CDK6:K216intd;CSQ_CADD_PHRED=0.319 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,31:172:0.18023:65:-100:0.1731:4,12,3,4,4,4,27,62,11,25,20,27:100:100 +7 92277315 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=CDK6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/7;CSQ_Feature=NM_001259.8;CSQ_HGVSc=NM_001259.8:c.647+23425C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.92277315G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6370;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.205882;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56009076&COSV56009076;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDK6:K216int&CDK6:K216intd;CSQ_CADD_PHRED=0.319 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,31:172:0.18023:65:-100:0.1731:4,12,3,4,4,4,27,62,11,25,20,27:100:100 +7 92455849 . T C 100 PASS DP=177;CSQ_Allele=C;CSQ_SYMBOL=CDK6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_001145306.2;CSQ_HGVSc=NM_001145306.2:c.233+6556A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.92455849T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.179 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:170,7:177:0.03955:65:-94.422:0.1238:0,1,2,2,0,2,18,77,14,22,13,33:66.81:100 +7 92455849 . T C 100 PASS DP=177;CSQ_Allele=C;CSQ_SYMBOL=CDK6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_001259.8;CSQ_HGVSc=NM_001259.8:c.233+6556A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.92455849T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.179 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:170,7:177:0.03955:65:-94.422:0.1238:0,1,2,2,0,2,18,77,14,22,13,33:66.81:100 +7 101559495 . A G 100 PASS DP=257;CSQ_Allele=G;CSQ_SYMBOL=CUX1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/24;CSQ_INTRON=.;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.164A>G;CSQ_HGVSp=NP_001189472.1:p.Asn55Ser;CSQ_HGVSg=7:g.101559495A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52892248&COSV52892248&COSV52892248&COSV52892248&COSV52892248&COSV52892248&COSV52892248&COSV52892248&COSV52892248&COSV52892248&COSV52892248;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.056;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:241,16:257:0.06226:65:-100:0.1433:2,5,1,3,4,1,40,77,29,45,24,42:100:100 +7 101747627 . A G 100 PASS DP=176;CSQ_Allele=G;CSQ_SYMBOL=CUX1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/24;CSQ_INTRON=.;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.451A>G;CSQ_HGVSp=NP_001189472.1:p.Lys151Glu;CSQ_HGVSg=7:g.101747627A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52908692&COSV52908692&COSV52908692&COSV52908692&COSV52908692&COSV52908692&COSV52908692&COSV52908692&COSV52908692&COSV52908692&COSV52908692;CSQ_COSMICncMuts=COSV52908692&COSV52908692;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=0.334;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,7:176:0.03977:65:-93.4559:0.1287:1,2,1,2,1,0,26,56,10,34,18,32:91.892:100 +7 101755060 . A G 100 PASS DP=175;CSQ_Allele=G;CSQ_SYMBOL=CUX1;CSQ_Consequence=splice_donor_region_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=7/23;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.640+6A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.101755060A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1255427;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Global_developmental_delay_with_or_without_impaired_intellectual_development;CSQ_gnomADg_AC=7014;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.227152;CSQ_gnomADe_AC=58925;CSQ_gnomADe_AN=245468;CSQ_gnomADe_AF=0.240052;CSQ_gnomADe_Hom=7807;CSQ_COSMICcMuts=COSV52891009&COSV52891009&COSV52891009&COSV52891009&COSV52891009&COSV52891009&COSV52891009&COSV52891009&COSV52891009&COSV52891009&COSV52891009;CSQ_COSMICncMuts=COSV52891009;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUX1:A168int&CUX1:A168intd&CUX1:A168srd&CUX1:A177int&CUX1:A177intd&CUX1:A177srd&CUX1:A198int&CUX1:A198intd&CUX1:A198srd&CUX1:A203int&CUX1:A203intd&CUX1:A203srd&CUX1:A214int&CUX1:A214intd&CUX1:A214srd;CSQ_CADD_PHRED=0.920 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,33:175:0.18857:65:-100:0.1898:5,9,5,4,1,9,22,69,12,33,6,33:100:100 +7 101758564 . C T 100 PASS DP=213;CSQ_Allele=T;CSQ_SYMBOL=CUX1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/23;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.707+11C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.101758564C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1255428;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Global_developmental_delay_with_or_without_impaired_intellectual_development;CSQ_gnomADg_AC=890;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0287431;CSQ_gnomADe_AC=7302;CSQ_gnomADe_AN=236734;CSQ_gnomADe_AF=0.0308447;CSQ_gnomADe_Hom=175;CSQ_COSMICcMuts=COSV52901343&COSV52901343&COSV52901343&COSV52901343&COSV52901343&COSV52901343&COSV52901343&COSV52901343&COSV52901343&COSV52901343&COSV52901343;CSQ_COSMICncMuts=COSV52901343&COSV52901343;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUX1:K190int&CUX1:K190intd&CUX1:K199int&CUX1:K199intd&CUX1:K220int&CUX1:K220intd&CUX1:K225int&CUX1:K225intd&CUX1:K236int&CUX1:K236intd;CSQ_CADD_PHRED=0.658 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:190,23:213:0.10798:65:-100:0.1446:4,7,3,2,5,2,30,72,19,35,23,34:100:100 +7 101801843 . C T 100 PASS DP=211;CSQ_Allele=T;CSQ_SYMBOL=CUX1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/24;CSQ_INTRON=.;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.711C>T;CSQ_HGVSp=NP_001189472.1:p.Ala237%3D;CSQ_HGVSg=7:g.101801843C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246224;CSQ_gnomADe_AF=4.06134e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52892269&COSV52892269&COSV52892269&COSV52892269&COSV52892269&COSV52892269&COSV52892269&COSV52892269&COSV52892269&COSV52892269&COSV52892269;CSQ_COSMICncMuts=COSV52892269&COSV52892269;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.43 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:195,16:211:0.07583:65:-100:0.166:4,4,2,1,2,3,37,68,19,34,22,31:100:100 +7 101837149 . G A 100 PASS DP=245;CSQ_Allele=A;CSQ_SYMBOL=CUX1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/24;CSQ_INTRON=.;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.1137G>A;CSQ_HGVSp=NP_001189472.1:p.Pro379%3D;CSQ_HGVSg=7:g.101837149G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1255430;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Global_developmental_delay_with_or_without_impaired_intellectual_development;CSQ_gnomADg_AC=10940;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.354504;CSQ_gnomADe_AC=85233;CSQ_gnomADe_AN=245478;CSQ_gnomADe_AF=0.347212;CSQ_gnomADe_Hom=15704;CSQ_COSMICcMuts=COSV52891026&COSV52891026&COSV52891026&COSV52891026&COSV52891026&COSV52891026&COSV52891026&COSV52891026&COSV52891026&COSV52891026&COSV52891026;CSQ_COSMICncMuts=COSV52891026;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUX1:P333P&CUX1:P340P&CUX1:P363P&CUX1:P368P&CUX1:P377P&CUX1:P379P;CSQ_CADD_PHRED=5.185 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:203,42:245:0.17143:65:-100:0.1404:7,17,5,7,1,5,43,77,26,52,15,32:100:100 +7 101844851 . A G 100 PASS DP=225;CSQ_Allele=G;CSQ_SYMBOL=CUX1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/24;CSQ_INTRON=.;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.2307A>G;CSQ_HGVSp=NP_001189472.1:p.Pro769%3D;CSQ_HGVSg=7:g.101844851A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1255431;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Global_developmental_delay_with_or_without_impaired_intellectual_development;CSQ_gnomADg_AC=11446;CSQ_gnomADg_AN=30648;CSQ_gnomADg_AF=0.373466;CSQ_gnomADe_AC=86436;CSQ_gnomADe_AN=246100;CSQ_gnomADe_AF=0.351223;CSQ_gnomADe_Hom=16106;CSQ_COSMICcMuts=COSV52891045&COSV52891045&COSV52891045&COSV52891045&COSV52891045&COSV52891045&COSV52891045&COSV52891045&COSV52891045&COSV52891045&COSV52891045;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUX1:G373int&CUX1:G373intd&CUX1:G380int&CUX1:G380intd&CUX1:G403int&CUX1:G403intd&CUX1:G417int&CUX1:G417intd&CUX1:G419int&CUX1:G419intd&CUX1:P758P&CUX1:P769P;CSQ_CADD_PHRED=0.443 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:191,34:225:0.15111:65:-100:0.1906:3,12,3,8,4,4,28,83,27,40,23,24:100:100 +7 101845182 . C T 100 PASS DP=268;CSQ_Allele=T;CSQ_SYMBOL=CUX1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=18/24;CSQ_INTRON=.;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.2638C>T;CSQ_HGVSp=NP_001189472.1:p.Gln880Ter;CSQ_HGVSg=7:g.101845182C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52890152&COSV52890152&COSV52890152&COSV52890152&COSV52890152&COSV52890152&COSV52890152&COSV52890152&COSV52890152&COSV52890152&COSV52890152;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUX1:Q880X;CSQ_CADD_PHRED=40 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:257,11:268:0.04104:65:-100:0.1703:0,7,0,3,0,1,36,99,22,48,20,43:100:100 +7 101882832 . C A 100 PASS DP=273;CSQ_Allele=A;CSQ_SYMBOL=CUX1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/24;CSQ_INTRON=.;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.3888C>A;CSQ_HGVSp=NP_001189472.1:p.Thr1296%3D;CSQ_HGVSg=7:g.101882832C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=730219;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=98;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.0031746;CSQ_gnomADe_AC=1238;CSQ_gnomADe_AN=246162;CSQ_gnomADe_AF=0.00502921;CSQ_gnomADe_Hom=48;CSQ_COSMICcMuts=COSV52894343&COSV52894343&COSV52894343&COSV52894343&COSV52894343&COSV52894343&COSV52894343&COSV52894343&COSV52894343&COSV52894343&COSV52894343;CSQ_COSMICncMuts=COSV52894343;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:223,50:273:0.18315:65:-100:0.125:10,17,3,9,5,6,62,78,30,44,33,26:100:100 +7 101892328 . C T 100 PASS DP=86;CSQ_Allele=T;CSQ_SYMBOL=CUX1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=24/24;CSQ_INTRON=.;CSQ_Feature=NM_001202543.2;CSQ_HGVSc=NM_001202543.2:c.*6C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.101892328C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15647;CSQ_gnomADg_AN=29492;CSQ_gnomADg_AF=0.530551;CSQ_gnomADe_AC=40013;CSQ_gnomADe_AN=66008;CSQ_gnomADe_AF=0.606184;CSQ_gnomADe_Hom=12210;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CUX1:3UTR;CSQ_CADD_PHRED=4.702 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,66:86:0.76744:65:-100:0.1134:14,17,12,5,6,12,18,23,14,7,9,15:100:100 +7 106508057 . C T 100 PASS DP=192;CSQ_Allele=T;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001282426.2;CSQ_HGVSc=NM_001282426.2:c.51C>T;CSQ_HGVSp=NP_001269355.1:p.Cys17%3D;CSQ_HGVSg=7:g.106508057C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=791;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0255557;CSQ_gnomADe_AC=6627;CSQ_gnomADe_AN=239738;CSQ_gnomADe_AF=0.0276427;CSQ_gnomADe_Hom=130;CSQ_COSMICcMuts=COSV63245773&COSV63245773&COSV63245773;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CG:C17C;CSQ_CADD_PHRED=7.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:184,7:192:0.03646:65:-94.7341:0.1652:1,2,1,1,1,1,33,64,23,29,17,26:66.825:100 +7 106508057 . C T 100 PASS DP=192;CSQ_Allele=T;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_002649.3;CSQ_HGVSc=NM_002649.3:c.51C>T;CSQ_HGVSp=NP_002640.2:p.Cys17%3D;CSQ_HGVSg=7:g.106508057C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=791;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0255557;CSQ_gnomADe_AC=6627;CSQ_gnomADe_AN=239738;CSQ_gnomADe_AF=0.0276427;CSQ_gnomADe_Hom=130;CSQ_COSMICcMuts=COSV63245773&COSV63245773&COSV63245773;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CG:C17C;CSQ_CADD_PHRED=7.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:184,7:192:0.03646:65:-94.7341:0.1652:1,2,1,1,1,1,33,64,23,29,17,26:66.825:100 +7 106508763 . G A 100 PASS DP=235;CSQ_Allele=A;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001282426.2;CSQ_HGVSc=NM_001282426.2:c.757G>A;CSQ_HGVSp=NP_001269355.1:p.Ala253Thr;CSQ_HGVSg=7:g.106508763G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=4.0621e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63254551&COSV63254551&COSV63254551;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.112;CSQ_Mastermind_MMID3=PIK3CG:A253T;CSQ_CADD_PHRED=22.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:214,21:235:0.08936:65:-100:0.1547:5,9,1,1,3,2,44,87,20,31,16,37:100:100 +7 106508763 . G A 100 PASS DP=235;CSQ_Allele=A;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_002649.3;CSQ_HGVSc=NM_002649.3:c.757G>A;CSQ_HGVSp=NP_002640.2:p.Ala253Thr;CSQ_HGVSg=7:g.106508763G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=4.0621e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63254551&COSV63254551&COSV63254551;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.112;CSQ_Mastermind_MMID3=PIK3CG:A253T;CSQ_CADD_PHRED=22.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:214,21:235:0.08936:65:-100:0.1547:5,9,1,1,3,2,44,87,20,31,16,37:100:100 +7 106508978 . A G 100 PASS DP=198;CSQ_Allele=G;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001282426.2;CSQ_HGVSc=NM_001282426.2:c.972A>G;CSQ_HGVSp=NP_001269355.1:p.Pro324%3D;CSQ_HGVSg=7:g.106508978A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28602;CSQ_gnomADg_AN=30812;CSQ_gnomADg_AF=0.928275;CSQ_gnomADe_AC=234273;CSQ_gnomADe_AN=246042;CSQ_gnomADe_AF=0.952167;CSQ_gnomADe_Hom=111636;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CG:P324P;CSQ_CADD_PHRED=0.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,198:198:1:65:-100:0.1239:37,71,22,35,13,20,37,71,22,35,13,20:100:100 +7 106508978 . A G 100 PASS DP=198;CSQ_Allele=G;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_002649.3;CSQ_HGVSc=NM_002649.3:c.972A>G;CSQ_HGVSp=NP_002640.2:p.Pro324%3D;CSQ_HGVSg=7:g.106508978A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28602;CSQ_gnomADg_AN=30812;CSQ_gnomADg_AF=0.928275;CSQ_gnomADe_AC=234273;CSQ_gnomADe_AN=246042;CSQ_gnomADe_AF=0.952167;CSQ_gnomADe_Hom=111636;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CG:P324P;CSQ_CADD_PHRED=0.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,198:198:1:65:-100:0.1239:37,71,22,35,13,20,37,71,22,35,13,20:100:100 +7 106508987 . T C 100 PASS DP=203;CSQ_Allele=C;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001282426.2;CSQ_HGVSc=NM_001282426.2:c.981T>C;CSQ_HGVSp=NP_001269355.1:p.Asp327%3D;CSQ_HGVSg=7:g.106508987T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28664;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.929503;CSQ_gnomADe_AC=234544;CSQ_gnomADe_AN=246030;CSQ_gnomADe_AF=0.953315;CSQ_gnomADe_Hom=111895;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CG:D327D;CSQ_CADD_PHRED=3.238 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,203:203:1:65:-100:0.0814:36,81,21,36,11,18,36,81,21,36,11,18:100:100 +7 106508987 . T C 100 PASS DP=203;CSQ_Allele=C;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_002649.3;CSQ_HGVSc=NM_002649.3:c.981T>C;CSQ_HGVSp=NP_002640.2:p.Asp327%3D;CSQ_HGVSg=7:g.106508987T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28664;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.929503;CSQ_gnomADe_AC=234544;CSQ_gnomADe_AN=246030;CSQ_gnomADe_AF=0.953315;CSQ_gnomADe_Hom=111895;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CG:D327D;CSQ_CADD_PHRED=3.238 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,203:203:1:65:-100:0.0814:36,81,21,36,11,18,36,81,21,36,11,18:100:100 +7 106509933 . A G 100 PASS DP=216;CSQ_Allele=G;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001282426.2;CSQ_HGVSc=NM_001282426.2:c.1927A>G;CSQ_HGVSp=NP_001269355.1:p.Ile643Val;CSQ_HGVSg=7:g.106509933A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=792085;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=612;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0197585;CSQ_gnomADe_AC=1372;CSQ_gnomADe_AN=245714;CSQ_gnomADe_AF=0.00558373;CSQ_gnomADe_Hom=33;CSQ_COSMICcMuts=COSV104668418&COSV104668418&COSV104668418;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.087;CSQ_Mastermind_MMID3=PIK3CG:I643V;CSQ_CADD_PHRED=21.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:201,15:216:0.06944:65:-100:0.1255:4,2,1,3,2,3,32,66,24,45,9,40:100:100 +7 106509933 . A G 100 PASS DP=216;CSQ_Allele=G;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_002649.3;CSQ_HGVSc=NM_002649.3:c.1927A>G;CSQ_HGVSp=NP_002640.2:p.Ile643Val;CSQ_HGVSg=7:g.106509933A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=792085;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=612;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0197585;CSQ_gnomADe_AC=1372;CSQ_gnomADe_AN=245714;CSQ_gnomADe_AF=0.00558373;CSQ_gnomADe_Hom=33;CSQ_COSMICcMuts=COSV104668418&COSV104668418&COSV104668418;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.087;CSQ_Mastermind_MMID3=PIK3CG:I643V;CSQ_CADD_PHRED=21.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:201,15:216:0.06944:65:-100:0.1255:4,2,1,3,2,3,32,66,24,45,9,40:100:100 +7 106513011 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_001282426.2;CSQ_HGVSc=NM_001282426.2:c.2025C>T;CSQ_HGVSp=NP_001269355.1:p.Ser675%3D;CSQ_HGVSg=7:g.106513011C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8102;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.261811;CSQ_gnomADe_AC=78295;CSQ_gnomADe_AN=246078;CSQ_gnomADe_AF=0.318171;CSQ_gnomADe_Hom=13731;CSQ_COSMICcMuts=COSV63246028&COSV63246028&COSV63246028;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.09;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CG:S675S;CSQ_CADD_PHRED=11.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,18:175:0.10286:65:-100:0.1667:3,6,0,4,1,4,25,64,16,31,14,25:100:100 +7 106513011 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=PIK3CG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_002649.3;CSQ_HGVSc=NM_002649.3:c.2025C>T;CSQ_HGVSp=NP_002640.2:p.Ser675%3D;CSQ_HGVSg=7:g.106513011C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8102;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.261811;CSQ_gnomADe_AC=78295;CSQ_gnomADe_AN=246078;CSQ_gnomADe_AF=0.318171;CSQ_gnomADe_Hom=13731;CSQ_COSMICcMuts=COSV63246028&COSV63246028&COSV63246028;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.09;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3CG:S675S;CSQ_CADD_PHRED=11.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,18:175:0.10286:65:-100:0.1667:3,6,0,4,1,4,25,64,16,31,14,25:100:100 +7 116339847 . GT G 100 PASS DP=285;CSQ_Allele=-;CSQ_SYMBOL=MET;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/21;CSQ_INTRON=.;CSQ_Feature=NM_000245.4;CSQ_HGVSc=NM_000245.4:c.713del;CSQ_HGVSp=NP_000236.2:p.Leu238TyrfsTer25;CSQ_HGVSg=7:g.116339851del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59256400&COSV59256400&COSV59256400;CSQ_COSMICncMuts=COSV59256400;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:277,8:285:0.02807:65:-90.665:0:3,3,0,2,0,0,49,100,20,55,19,42:70.322:100 +7 116339847 . GT G 100 PASS DP=285;CSQ_Allele=-;CSQ_SYMBOL=MET;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/21;CSQ_INTRON=.;CSQ_Feature=NM_001127500.3;CSQ_HGVSc=NM_001127500.3:c.713del;CSQ_HGVSp=NP_001120972.1:p.Leu238TyrfsTer25;CSQ_HGVSg=7:g.116339851del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59256400&COSV59256400&COSV59256400;CSQ_COSMICncMuts=COSV59256400;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:277,8:285:0.02807:65:-90.665:0:3,3,0,2,0,0,49,100,20,55,19,42:70.322:100 +7 116341488 . G A 100 PASS DP=254;CSQ_Allele=A;CSQ_SYMBOL=MET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/20;CSQ_Feature=NM_000245.4;CSQ_HGVSc=NM_000245.4:c.1200+1150G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.116341488G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7433;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.240706;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:5UTR&MET:5UTRint&MET:5UTRintd&MET:R400int&MET:R400intd;CSQ_CADD_PHRED=9.630 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:196,58:254:0.22835:65:-100:0.1271:12,20,2,10,6,8,41,93,18,36,20,46:100:100 +7 116341488 . G A 100 PASS DP=254;CSQ_Allele=A;CSQ_SYMBOL=MET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/20;CSQ_Feature=NM_001127500.3;CSQ_HGVSc=NM_001127500.3:c.1200+1150G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.116341488G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7433;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.240706;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:5UTR&MET:5UTRint&MET:5UTRintd&MET:R400int&MET:R400intd;CSQ_CADD_PHRED=9.630 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:196,58:254:0.22835:65:-100:0.1271:12,20,2,10,6,8,41,93,18,36,20,46:100:100 +7 116397572 . A G 100 PASS DP=249;CSQ_Allele=G;CSQ_SYMBOL=MET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_000245.4;CSQ_HGVSc=NM_000245.4:c.1944A>G;CSQ_HGVSp=NP_000236.2:p.Gln648%3D;CSQ_HGVSg=7:g.116397572A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93569;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Renal_cell_carcinoma&Renal_cell_carcinoma&_papillary&_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5318;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.171959;CSQ_gnomADe_AC=44933;CSQ_gnomADe_AN=245942;CSQ_gnomADe_AF=0.182698;CSQ_gnomADe_Hom=4493;CSQ_COSMICcMuts=COSV59257388&COSV59257388&COSV59257388;CSQ_COSMICncMuts=COSV59257388&COSV59257388;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:Q218Q&MET:Q648Q;CSQ_CADD_PHRED=2.290 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:188,61:249:0.24498:65:-100:0.0912:14,18,3,9,6,11,39,91,14,44,23,38:100:100 +7 116397572 . A G 100 PASS DP=249;CSQ_Allele=G;CSQ_SYMBOL=MET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_001127500.3;CSQ_HGVSc=NM_001127500.3:c.1944A>G;CSQ_HGVSp=NP_001120972.1:p.Gln648%3D;CSQ_HGVSg=7:g.116397572A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93569;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Renal_cell_carcinoma&Renal_cell_carcinoma&_papillary&_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5318;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.171959;CSQ_gnomADe_AC=44933;CSQ_gnomADe_AN=245942;CSQ_gnomADe_AF=0.182698;CSQ_gnomADe_Hom=4493;CSQ_COSMICcMuts=COSV59257388&COSV59257388&COSV59257388;CSQ_COSMICncMuts=COSV59257388&COSV59257388;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:Q218Q&MET:Q648Q;CSQ_CADD_PHRED=2.290 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:188,61:249:0.24498:65:-100:0.0912:14,18,3,9,6,11,39,91,14,44,23,38:100:100 +7 116435768 . C T 100 PASS DP=257;CSQ_Allele=T;CSQ_SYMBOL=MET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/21;CSQ_INTRON=.;CSQ_Feature=NM_000245.4;CSQ_HGVSc=NM_000245.4:c.3858C>T;CSQ_HGVSp=NP_000236.2:p.Asp1286%3D;CSQ_HGVSg=7:g.116435768C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93574;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Renal_cell_carcinoma&Renal_cell_carcinoma&_papillary&_1&Autosomal_recessive_nonsyndromic_hearing_loss_97&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10519;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.340685;CSQ_gnomADe_AC=106398;CSQ_gnomADe_AN=246130;CSQ_gnomADe_AF=0.432284;CSQ_gnomADe_Hom=24180;CSQ_COSMICcMuts=COSV59255908&COSV59255908&COSV59255908;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:D1286D&MET:D1304D&MET:D856D;CSQ_CADD_PHRED=0.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,155:257:0.60311:65:-100:0.1815:26,51,16,23,8,31,48,84,24,33,20,48:100:100 +7 116435768 . C T 100 PASS DP=257;CSQ_Allele=T;CSQ_SYMBOL=MET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/21;CSQ_INTRON=.;CSQ_Feature=NM_001127500.3;CSQ_HGVSc=NM_001127500.3:c.3912C>T;CSQ_HGVSp=NP_001120972.1:p.Asp1304%3D;CSQ_HGVSg=7:g.116435768C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93574;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Renal_cell_carcinoma&Renal_cell_carcinoma&_papillary&_1&Autosomal_recessive_nonsyndromic_hearing_loss_97&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10519;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.340685;CSQ_gnomADe_AC=106398;CSQ_gnomADe_AN=246130;CSQ_gnomADe_AF=0.432284;CSQ_gnomADe_Hom=24180;CSQ_COSMICcMuts=COSV59255908&COSV59255908&COSV59255908;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:D1286D&MET:D1304D&MET:D856D;CSQ_CADD_PHRED=0.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,155:257:0.60311:65:-100:0.1815:26,51,16,23,8,31,48,84,24,33,20,48:100:100 +7 116436022 . G A 100 PASS DP=308;CSQ_Allele=A;CSQ_SYMBOL=MET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_000245.4;CSQ_HGVSc=NM_000245.4:c.4017G>A;CSQ_HGVSp=NP_000236.2:p.Ala1339%3D;CSQ_HGVSg=7:g.116436022G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93575;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Renal_cell_carcinoma&Renal_cell_carcinoma&_papillary&_1&Autosomal_recessive_nonsyndromic_hearing_loss_97&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10573;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.342013;CSQ_gnomADe_AC=106754;CSQ_gnomADe_AN=245950;CSQ_gnomADe_AF=0.434048;CSQ_gnomADe_Hom=24363;CSQ_COSMICcMuts=COSV59255937&COSV59255937&COSV59255937;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:A1339A&MET:A1357A&MET:A909A;CSQ_CADD_PHRED=3.110 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,173:308:0.56169:65:-100:0.1175:38,58,15,31,12,19,63,103,27,50,26,39:100:100 +7 116436022 . G A 100 PASS DP=308;CSQ_Allele=A;CSQ_SYMBOL=MET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_001127500.3;CSQ_HGVSc=NM_001127500.3:c.4071G>A;CSQ_HGVSp=NP_001120972.1:p.Ala1357%3D;CSQ_HGVSg=7:g.116436022G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93575;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Renal_cell_carcinoma&Renal_cell_carcinoma&_papillary&_1&Autosomal_recessive_nonsyndromic_hearing_loss_97&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10573;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.342013;CSQ_gnomADe_AC=106754;CSQ_gnomADe_AN=245950;CSQ_gnomADe_AF=0.434048;CSQ_gnomADe_Hom=24363;CSQ_COSMICcMuts=COSV59255937&COSV59255937&COSV59255937;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:A1339A&MET:A1357A&MET:A909A;CSQ_CADD_PHRED=3.110 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,173:308:0.56169:65:-100:0.1175:38,58,15,31,12,19,63,103,27,50,26,39:100:100 +7 116436097 . G A 100 PASS DP=278;CSQ_Allele=A;CSQ_SYMBOL=MET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_000245.4;CSQ_HGVSc=NM_000245.4:c.4092G>A;CSQ_HGVSp=NP_000236.2:p.Pro1364%3D;CSQ_HGVSg=7:g.116436097G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93576;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Renal_cell_carcinoma&Renal_cell_carcinoma&_papillary&_1&Autosomal_recessive_nonsyndromic_hearing_loss_97&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10597;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.342812;CSQ_gnomADe_AC=106783;CSQ_gnomADe_AN=245902;CSQ_gnomADe_AF=0.43425;CSQ_gnomADe_Hom=24372;CSQ_COSMICcMuts=COSV59255944&COSV59255944&COSV59255944;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:P1364P&MET:P1382P&MET:P934P;CSQ_CADD_PHRED=11.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,159:278:0.57194:65:-100:0.1118:25,61,15,25,12,21,41,104,26,42,20,45:100:100 +7 116436097 . G A 100 PASS DP=278;CSQ_Allele=A;CSQ_SYMBOL=MET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_001127500.3;CSQ_HGVSc=NM_001127500.3:c.4146G>A;CSQ_HGVSp=NP_001120972.1:p.Pro1382%3D;CSQ_HGVSg=7:g.116436097G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93576;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Renal_cell_carcinoma&Renal_cell_carcinoma&_papillary&_1&Autosomal_recessive_nonsyndromic_hearing_loss_97&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10597;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.342812;CSQ_gnomADe_AC=106783;CSQ_gnomADe_AN=245902;CSQ_gnomADe_AF=0.43425;CSQ_gnomADe_Hom=24372;CSQ_COSMICcMuts=COSV59255944&COSV59255944&COSV59255944;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MET:P1364P&MET:P1382P&MET:P934P;CSQ_CADD_PHRED=11.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,159:278:0.57194:65:-100:0.1118:25,61,15,25,12,21,41,104,26,42,20,45:100:100 +7 128846328 . G C 100 PASS DP=183;CSQ_Allele=C;CSQ_SYMBOL=SMO;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_005631.5;CSQ_HGVSc=NM_005631.5:c.1164G>C;CSQ_HGVSp=NP_005622.1:p.Gly388%3D;CSQ_HGVSg=7:g.128846328G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=403462;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hamartoma_of_hypothalamus¬_specified¬_provided;CSQ_gnomADg_AC=24466;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.792909;CSQ_gnomADe_AC=196537;CSQ_gnomADe_AN=246234;CSQ_gnomADe_AF=0.798172;CSQ_gnomADe_Hom=79023;CSQ_COSMICcMuts=COSV50829466;CSQ_COSMICncMuts=COSV50829466&COSV50829466;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMO:G388G;CSQ_CADD_PHRED=11.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,172:183:0.93989:65:-100:0.1488:27,62,10,22,16,35,28,66,12,23,16,38:100:100 +7 128850879 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=SMO;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/12;CSQ_INTRON=.;CSQ_Feature=NM_005631.5;CSQ_HGVSc=NM_005631.5:c.1726C>T;CSQ_HGVSp=NP_005622.1:p.Arg576Trp;CSQ_HGVSg=7:g.128850879C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=975036;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hamartoma_of_hypothalamus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=245976;CSQ_gnomADe_AF=1.21963e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV50840886;CSQ_COSMICncMuts=COSV50840886;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=0.644;CSQ_Mastermind_MMID3=SMO:R576W;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,7:130:0.05385:65:-100:0.2169:1,1,1,1,0,3,23,36,12,29,7,23:74.698:100 +7 128852003 . AC A 100 PASS DP=183;CSQ_Allele=-;CSQ_SYMBOL=SMO;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_005631.5;CSQ_HGVSc=NM_005631.5:c.2081del;CSQ_HGVSp=NP_005622.1:p.Pro694LeufsTer82;CSQ_HGVSg=7:g.128852009del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50824126;CSQ_COSMICncMuts=COSV50824126&COSV50824126&COSV50824126;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:166,17:183:0.0929:65:-100:0:1,8,0,4,1,3,7,83,11,31,9,42:100:100 +7 140449150 . T C 100 PASS DP=163;CSQ_Allele=C;CSQ_SYMBOL=BRAF;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/18;CSQ_INTRON=.;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1929A>G;CSQ_HGVSp=NP_004324.2:p.Gly643%3D;CSQ_HGVSg=7:g.140449150T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=40391;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Noonan_syndrome_7&LEOPARD_syndrome_3&RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=9145;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.296031;CSQ_gnomADe_AC=49388;CSQ_gnomADe_AN=245514;CSQ_gnomADe_AF=0.201162;CSQ_gnomADe_Hom=7554;CSQ_COSMICcMuts=COSV56058907;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:G555G&BRAF:G591G&BRAF:G606G&BRAF:G609G&BRAF:G621G&BRAF:G643G&BRAF:G646G&BRAF:G683G;CSQ_CADD_PHRED=12.08 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,39:163:0.23926:65:-100:0.1044:7,12,3,3,2,12,26,58,9,27,10,33:100:100 +7 140452358 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1860+717C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140452358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.910 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,6:151:0.03974:65:-94.6288:0.1272:2,1,0,3,0,0,35,51,12,30,12,11:68.58:100 +7 140452363 . C G 100 PASS DP=155;CSQ_Allele=G;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1860+712G>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140452363C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9082;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.293707;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:M532int&BRAF:M532intd&BRAF:M568int&BRAF:M568intd&BRAF:M583int&BRAF:M583intd&BRAF:M586int&BRAF:M586intd&BRAF:M598int&BRAF:M598intd&BRAF:M620int&BRAF:M620intd&BRAF:M623int&BRAF:M623intd&BRAF:M660int&BRAF:M660intd;CSQ_CADD_PHRED=0.327 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,53:155:0.34194:65:-100:0.1292:10,18,6,9,5,5,36,51,17,25,13,13:100:100 +7 140452424 . GAAGA G 100 PASS DP=170;CSQ_Allele=-;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1860+647_1860+650del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140452433_140452436del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1743;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.0563676;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.378 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,22:170:0.12941:65:-100:0:3,8,1,5,4,1,21,60,16,34,19,21:100:100 +7 140453136 . A T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=BRAF;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/18;CSQ_INTRON=.;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1799T>A;CSQ_HGVSp=NP_004324.2:p.Val600Glu;CSQ_HGVSg=7:g.140453136A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=13961;CSQ_ClinVar_CLNSIG=Pathogenic&drug_response&other;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cystic_epithelial_invagination_containing_papillae_lined_by_columnar_epithelium&See_cases&Trametinib-Dabrafenib_Response&Vemurafenib-Cobimetinib_Response&Nephroblastoma&Cerebral_arteriovenous_malformation&Neoplasm&Melanoma&Papillary_thyroid_carcinoma&Multiple_myeloma&Brainstem_glioma&Malignant_melanoma_of_skin&Lung_adenocarcinoma&Non-small_cell_lung_carcinoma&Neoplasm_of_brain&Colonic_neoplasm&Neoplasm_of_ovary&Gastrointestinal_stromal_tumor&Lymphangioma&Neoplasm_of_the_large_intestine&Carcinoma_of_colon&Malignant_neoplastic_disease&Lung_carcinoma&Colorectal_cancer&Squamous_cell_carcinoma_of_the_head_and_neck&Cardio-facio-cutaneous_syndrome&Glioblastoma&Nongerminomatous_germ_cell_tumor&Papillary_renal_cell_carcinoma&_sporadic&Astrocytoma&_low-grade&_somatic¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56056643;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=BRAF:V600;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=0.931;CSQ_Mastermind_MMID3=BRAF:V512E&BRAF:V548E&BRAF:V563E&BRAF:V566E&BRAF:V578E&BRAF:V600E&BRAF:V600fs&BRAF:V603E&BRAF:V640E;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,31:158:0.1962:65:-100:0.0971:4,8,6,5,4,4,31,50,18,19,13,27:100:100 +7 140453155 . C A 43 LowSupport;rescued DP=154;CSQ_Allele=A;CSQ_SYMBOL=BRAF;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/18;CSQ_INTRON=.;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1780G>T;CSQ_HGVSp=NP_004324.2:p.Asp594Tyr;CSQ_HGVSg=7:g.140453155C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56184663;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.08;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.984;CSQ_Mastermind_MMID3=BRAF:D506Y&BRAF:D560Y&BRAF:D594Y;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:43:153,1:154:0.00649:65:-45.969:0.12:0,0,0,0,1,0,21,53,18,26,15,21:9.048:0 +7 140488156 . T G 100 PASS DP=152;CSQ_Allele=G;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1141-772A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140488156T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2924;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0945238;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56181002;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292inta&BRAF:D328int&BRAF:D328inta&BRAF:D346int&BRAF:D346inta&BRAF:D380int&BRAF:D380inta&BRAF:D383int&BRAF:D383inta;CSQ_CADD_PHRED=12.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,24:152:0.15789:65:-100:0.1314:3,5,2,4,1,9,21,50,12,28,9,32:100:100 +7 140489173 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1141-1789T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140489173A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=358;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0115603;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99966362;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292inta&BRAF:D328int&BRAF:D328inta&BRAF:D346int&BRAF:D346inta&BRAF:D380int&BRAF:D380inta&BRAF:D380intd&BRAF:D383int&BRAF:D383inta;CSQ_CADD_PHRED=12.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,10:148:0.06757:65:-100:0.1395:3,3,0,0,2,2,23,52,16,17,11,29:100:100 +7 140490207 . T C 100 PASS DP=195;CSQ_Allele=C;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1141-2823A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140490207T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3075;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0993217;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56058899;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292inta&BRAF:D328int&BRAF:D328inta&BRAF:D346int&BRAF:D346inta&BRAF:D380int&BRAF:D380inta&BRAF:D380intd&BRAF:D383int&BRAF:D383inta;CSQ_CADD_PHRED=8.349 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:170,25:195:0.12821:65:-100:0.1372:3,11,1,4,2,4,40,68,14,33,14,26:100:100 +7 140490382 . C T 100 PASS DP=166;CSQ_Allele=T;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1141-2998G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140490382C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9056;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.292866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56111069;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292inta&BRAF:D328int&BRAF:D328inta&BRAF:D346int&BRAF:D346inta&BRAF:D380int&BRAF:D380inta&BRAF:D380intd&BRAF:D383int&BRAF:D383inta;CSQ_CADD_PHRED=0.824 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,49:166:0.29518:65:-100:0.1123:8,16,4,7,7,7,33,53,15,24,16,25:100:100 +7 140490928 . C A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1140+3180G>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140490928C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56111077;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292intd&BRAF:D328int&BRAF:D328intd&BRAF:D346int&BRAF:D346intd&BRAF:D380int&BRAF:D380intd&BRAF:D383int&BRAF:D383intd;CSQ_CADD_PHRED=0.906 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,45:154:0.29221:65:-100:0.172:7,14,4,6,5,9,25,49,14,23,14,29:100:100 +7 140491258 . C T 100 PASS DP=190;CSQ_Allele=T;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1140+2850G>A;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140491258C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1749;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0565105;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56285408;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292intd&BRAF:D328int&BRAF:D328intd&BRAF:D346int&BRAF:D346intd&BRAF:D380int&BRAF:D380intd&BRAF:D383int&BRAF:D383intd;CSQ_CADD_PHRED=3.553 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,14:190:0.07368:65:-100:0.1204:1,5,0,4,1,3,32,66,12,33,18,29:100:100 +7 140491678 . G A 100 PASS DP=146;CSQ_Allele=A;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1140+2430C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140491678G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9062;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.293212;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56111086;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292intd&BRAF:D328int&BRAF:D328intd&BRAF:D346int&BRAF:D346intd&BRAF:D380int&BRAF:D380intd&BRAF:D383int&BRAF:D383intd;CSQ_CADD_PHRED=3.130 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,35:146:0.23973:65:-100:0.0932:3,13,1,6,6,6,17,52,16,25,15,21:100:100 +7 140492039 . T C 100 PASS DP=174;CSQ_Allele=C;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1140+2069A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140492039T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3346;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.108152;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56181027;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292intd&BRAF:D328int&BRAF:D328intd&BRAF:D346int&BRAF:D346intd&BRAF:D380int&BRAF:D380intd&BRAF:D383int&BRAF:D383intd;CSQ_CADD_PHRED=1.242 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,28:174:0.16092:65:-100:0.089:7,9,0,4,3,5,32,59,18,26,9,30:100:100 +7 140492411 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1140+1697A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140492411T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1758;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0567866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56285428;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292intd&BRAF:D328int&BRAF:D328intd&BRAF:D346int&BRAF:D346intd&BRAF:D380int&BRAF:D380intd&BRAF:D383int&BRAF:D383intd;CSQ_CADD_PHRED=5.188 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,16:162:0.09877:65:-100:0.129:2,8,1,1,0,4,33,52,12,26,17,22:100:100 +7 140493029 . A G 100 PASS DP=171;CSQ_Allele=G;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1140+1079T>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140493029A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1759;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0568263;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56285434;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292intd&BRAF:D328int&BRAF:D328intd&BRAF:D346int&BRAF:D346intd&BRAF:D380int&BRAF:D380intd&BRAF:D383int&BRAF:D383intd;CSQ_CADD_PHRED=8.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,14:171:0.08187:65:-100:0.0757:1,9,2,1,0,1,37,63,14,18,15,24:100:100 +7 140493351 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1140+757A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140493351T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1694;CSQ_gnomADg_AN=30780;CSQ_gnomADg_AF=0.0550357;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56081831;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:D292int&BRAF:D292intd&BRAF:D328int&BRAF:D328intd&BRAF:D346int&BRAF:D346intd&BRAF:D380int&BRAF:D380intd&BRAF:D383int&BRAF:D383intd;CSQ_CADD_PHRED=2.521 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,4:115:0.03478:65:-97.7418:0.1154:0,1,0,1,0,2,13,39,12,23,11,17:65.786:100 +7 140494209 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=BRAF;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=8/18;CSQ_INTRON=.;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.1039C>T;CSQ_HGVSp=NP_004324.2:p.Arg347Ter;CSQ_HGVSg=7:g.140494209G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1677779;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56374850;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:R347X;CSQ_CADD_PHRED=39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,9:148:0.06081:65:-100:0.1913:0,5,3,0,0,1,29,47,15,19,14,24:88.474:100 +7 140494467 . T G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.981-200A>C;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140494467T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00058102;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,7:149:0.04698:65:-100:0.1337:2,3,0,0,2,0,27,57,9,21,12,23:75.321:100 +7 140565218 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.139-15206A>G;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140565218T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9140;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.295506;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.543 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,45:145:0.31034:65:-100:0.1714:7,18,2,6,5,7,25,53,11,22,13,21:100:100 +7 140581028 . AT A 100 PASS DP=117;CSQ_Allele=-;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.139-31017del;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140581033del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,10:117:0.08547:65:-100:0:1,5,1,1,0,2,19,38,10,23,8,19:100:100 +7 140618013 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=BRAF;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/17;CSQ_Feature=NM_004333.6;CSQ_HGVSc=NM_004333.6:c.138+6353C>T;CSQ_HGVSp=.;CSQ_HGVSg=7:g.140618013G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9117;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.295201;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRAF:5UTR&BRAF:5UTRint&BRAF:5UTRintd&BRAF:E46int&BRAF:E46intd;CSQ_CADD_PHRED=2.805 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,43:177:0.24294:65:-100:0.0585:5,14,6,8,5,5,25,67,11,22,20,32:100:100 +7 142640004 . T C 100 PASS DP=204;CSQ_Allele=C;CSQ_SYMBOL=KEL;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/19;CSQ_INTRON=.;CSQ_Feature=NM_000420.3;CSQ_HGVSc=NM_000420.3:c.1899A>G;CSQ_HGVSp=NP_000411.1:p.Leu633%3D;CSQ_HGVSg=7:g.142640004T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1856;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.060022;CSQ_gnomADe_AC=4158;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=0.0168902;CSQ_gnomADe_Hom=397;CSQ_COSMICcMuts=COSV62336775;CSQ_COSMICncMuts=COSV62336775&COSV62336775&COSV62336775&COSV62336775;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.07;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KEL:L633L;CSQ_CADD_PHRED=3.992 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:165,39:204:0.19118:65:-100:0.1092:2,16,4,4,3,10,29,76,18,25,15,41:100:100 +7 142640113 . A G 100 PASS DP=147;CSQ_Allele=G;CSQ_SYMBOL=KEL;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/19;CSQ_INTRON=.;CSQ_Feature=NM_000420.3;CSQ_HGVSc=NM_000420.3:c.1790T>C;CSQ_HGVSp=NP_000411.1:p.Leu597Pro;CSQ_HGVSg=7:g.142640113A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=31082;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Kel6_antigen¬_provided;CSQ_gnomADg_AC=753;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.0243547;CSQ_gnomADe_AC=1613;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=0.00655217;CSQ_gnomADe_Hom=65;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.177;CSQ_Mastermind_MMID3=KEL:L597P;CSQ_CADD_PHRED=5.579 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,25:147:0.17007:65:-100:0.1302:5,13,0,2,0,5,26,50,8,31,8,24:100:100 +7 142640596 . T G 100 PASS DP=189;CSQ_Allele=G;CSQ_SYMBOL=KEL;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/19;CSQ_INTRON=.;CSQ_Feature=NM_000420.3;CSQ_HGVSc=NM_000420.3:c.1680A>C;CSQ_HGVSp=NP_000411.1:p.Pro560%3D;CSQ_HGVSg=7:g.142640596T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2842;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0919146;CSQ_gnomADe_AC=12363;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.0502255;CSQ_gnomADe_Hom=504;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KEL:P560P;CSQ_CADD_PHRED=4.302 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,10:189:0.05291:65:-94.22:0.137:1,1,3,4,0,1,26,68,10,25,18,42:100:100 +7 142651363 . T G 100 PASS DP=193;CSQ_Allele=G;CSQ_SYMBOL=KEL;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/19;CSQ_INTRON=.;CSQ_Feature=NM_000420.3;CSQ_HGVSc=NM_000420.3:c.832A>C;CSQ_HGVSp=NP_000411.1:p.Ile278Leu;CSQ_HGVSg=7:g.142651363T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.000258598;CSQ_gnomADe_AC=23;CSQ_gnomADe_AN=245924;CSQ_gnomADe_AF=9.35248e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.13;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.105;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:167,26:193:0.13472:65:-100:0.1345:7,9,1,7,2,0,37,76,13,30,14,23:100:100 +7 148511171 . C T 100 PASS DP=171;CSQ_Allele=T;CSQ_SYMBOL=EZH2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/20;CSQ_INTRON=.;CSQ_Feature=NM_001203247.2;CSQ_HGVSc=NM_001203247.2:c.1716G>A;CSQ_HGVSp=NP_001190176.1:p.Pro572%3D;CSQ_HGVSg=7:g.148511171C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158577;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Weaver_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=357;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0115295;CSQ_gnomADe_AC=2584;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.0105;CSQ_gnomADe_Hom=19;CSQ_COSMICcMuts=COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654;CSQ_COSMICncMuts=COSV57446654&COSV57446654&COSV57446654&COSV57446654;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EZH2:P521P&EZH2:P533P&EZH2:P563P&EZH2:P572P&EZH2:P577P;CSQ_CADD_PHRED=6.710 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,9:171:0.05263:65:-100:0.132:3,1,1,0,1,3,28,63,7,26,16,31:90.822:100 +7 148511171 . C T 100 PASS DP=171;CSQ_Allele=T;CSQ_SYMBOL=EZH2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/19;CSQ_INTRON=.;CSQ_Feature=NM_001203249.2;CSQ_HGVSc=NM_001203249.2:c.1563G>A;CSQ_HGVSp=NP_001190178.1:p.Pro521%3D;CSQ_HGVSg=7:g.148511171C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158577;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Weaver_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=357;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0115295;CSQ_gnomADe_AC=2584;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.0105;CSQ_gnomADe_Hom=19;CSQ_COSMICcMuts=COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654;CSQ_COSMICncMuts=COSV57446654&COSV57446654&COSV57446654&COSV57446654;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EZH2:P521P&EZH2:P533P&EZH2:P563P&EZH2:P572P&EZH2:P577P;CSQ_CADD_PHRED=6.710 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,9:171:0.05263:65:-100:0.132:3,1,1,0,1,3,28,63,7,26,16,31:90.822:100 +7 148511171 . C T 100 PASS DP=171;CSQ_Allele=T;CSQ_SYMBOL=EZH2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/20;CSQ_INTRON=.;CSQ_Feature=NM_004456.5;CSQ_HGVSc=NM_004456.5:c.1731G>A;CSQ_HGVSp=NP_004447.2:p.Pro577%3D;CSQ_HGVSg=7:g.148511171C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158577;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Weaver_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=357;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0115295;CSQ_gnomADe_AC=2584;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.0105;CSQ_gnomADe_Hom=19;CSQ_COSMICcMuts=COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654&COSV57446654;CSQ_COSMICncMuts=COSV57446654&COSV57446654&COSV57446654&COSV57446654;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EZH2:P521P&EZH2:P533P&EZH2:P563P&EZH2:P572P&EZH2:P577P;CSQ_CADD_PHRED=6.710 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,9:171:0.05263:65:-100:0.132:3,1,1,0,1,3,28,63,7,26,16,31:90.822:100 +7 148515024 . TC T 100 PASS DP=166;CSQ_Allele=-;CSQ_SYMBOL=EZH2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=10/20;CSQ_INTRON=.;CSQ_Feature=NM_001203247.2;CSQ_HGVSc=NM_001203247.2:c.1169del;CSQ_HGVSp=NP_001190176.1:p.Gly390GlufsTer29;CSQ_HGVSg=7:g.148515030del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347;CSQ_COSMICncMuts=COSV57455347&COSV57455347&COSV57455347;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,9:166:0.05422:65:-100:0:1,1,2,2,1,2,14,58,17,32,18,27:83.865:100 +7 148515024 . TC T 100 PASS DP=166;CSQ_Allele=-;CSQ_SYMBOL=EZH2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=10/19;CSQ_INTRON=.;CSQ_Feature=NM_001203249.2;CSQ_HGVSc=NM_001203249.2:c.1142del;CSQ_HGVSp=NP_001190178.1:p.Gly381GlufsTer29;CSQ_HGVSg=7:g.148515030del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347;CSQ_COSMICncMuts=COSV57455347&COSV57455347&COSV57455347;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,9:166:0.05422:65:-100:0:1,1,2,2,1,2,14,58,17,32,18,27:83.865:100 +7 148515024 . TC T 100 PASS DP=166;CSQ_Allele=-;CSQ_SYMBOL=EZH2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=10/20;CSQ_INTRON=.;CSQ_Feature=NM_004456.5;CSQ_HGVSc=NM_004456.5:c.1184del;CSQ_HGVSp=NP_004447.2:p.Gly395GlufsTer29;CSQ_HGVSg=7:g.148515030del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347&COSV57455347;CSQ_COSMICncMuts=COSV57455347&COSV57455347&COSV57455347;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,9:166:0.05422:65:-100:0:1,1,2,2,1,2,14,58,17,32,18,27:83.865:100 +7 148525952 . C T 100 PASS DP=167;CSQ_Allele=T;CSQ_SYMBOL=EZH2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/20;CSQ_INTRON=.;CSQ_Feature=NM_001203247.2;CSQ_HGVSc=NM_001203247.2:c.505G>A;CSQ_HGVSp=NP_001190176.1:p.Glu169Lys;CSQ_HGVSg=7:g.148525952C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.472;CSQ_Mastermind_MMID3=EZH2:E169K;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,15:167:0.08982:65:-100:0.1392:5,5,1,4,0,0,25,65,15,27,8,27:100:100 +7 148525952 . C T 100 PASS DP=167;CSQ_Allele=T;CSQ_SYMBOL=EZH2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/19;CSQ_INTRON=.;CSQ_Feature=NM_001203249.2;CSQ_HGVSc=NM_001203249.2:c.478G>A;CSQ_HGVSp=NP_001190178.1:p.Glu160Lys;CSQ_HGVSg=7:g.148525952C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.472;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,15:167:0.08982:65:-100:0.1392:5,5,1,4,0,0,25,65,15,27,8,27:100:100 +7 148525952 . C T 100 PASS DP=167;CSQ_Allele=T;CSQ_SYMBOL=EZH2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/20;CSQ_INTRON=.;CSQ_Feature=NM_004456.5;CSQ_HGVSc=NM_004456.5:c.505G>A;CSQ_HGVSp=NP_004447.2:p.Glu169Lys;CSQ_HGVSg=7:g.148525952C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.472;CSQ_Mastermind_MMID3=EZH2:E169K;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,15:167:0.08982:65:-100:0.1392:5,5,1,4,0,0,25,65,15,27,8,27:100:100 +7 152346007 . C T 100 PASS DP=171;CSQ_Allele=T;CSQ_SYMBOL=XRCC2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_005431.2;CSQ_HGVSc=NM_005431.2:c.563G>A;CSQ_HGVSp=NP_005422.1:p.Arg188His;CSQ_HGVSg=7:g.152346007C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=486723;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=1492;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0482037;CSQ_gnomADe_AC=15732;CSQ_gnomADe_AN=246118;CSQ_gnomADe_AF=0.0639206;CSQ_gnomADe_Hom=658;CSQ_COSMICcMuts=COSV63770283;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.030;CSQ_Mastermind_MMID3=XRCC2:R188H;CSQ_CADD_PHRED=15.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,11:171:0.06433:65:-100:0.1659:2,3,1,0,2,3,28,56,13,28,18,28:100:100 +8 26218592 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=PPP2R2A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001177591.2;CSQ_HGVSc=NM_001177591.2:c.592G>A;CSQ_HGVSp=NP_001171062.1:p.Asp198Asn;CSQ_HGVSg=8:g.26218592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60099415&COSV60099415;CSQ_COSMICncMuts=COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.30;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.433;CSQ_Mastermind_MMID3=PPP2R2A:D198N;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,6:120:0.05:65:-98.3625:0.1549:0,2,0,1,2,1,22,35,12,21,13,17:73.843:100 +8 26218592 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=PPP2R2A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_002717.4;CSQ_HGVSc=NM_002717.4:c.562G>A;CSQ_HGVSp=NP_002708.1:p.Asp188Asn;CSQ_HGVSg=8:g.26218592G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60099415&COSV60099415;CSQ_COSMICncMuts=COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415&COSV60099415;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.30;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.433;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,6:120:0.05:65:-98.3625:0.1549:0,2,0,1,2,1,22,35,12,21,13,17:73.843:100 +8 31517005 . AG A 100 PASS DP=115;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.37+20064del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31517011del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,18:115:0.15652:65:-100:0:2,6,3,1,1,5,14,34,16,18,9,24:100:100 +8 31517005 . AG A 100 PASS DP=115;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.37+20064del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31517011del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,18:115:0.15652:65:-100:0:2,6,3,1,1,5,14,34,16,18,9,24:100:100 +8 31517005 . AG A 100 PASS DP=115;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.745+18766del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31517011del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,18:115:0.15652:65:-100:0:2,6,3,1,1,5,14,34,16,18,9,24:100:100 +8 31698205 . T C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.37+201258T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31698205T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.711 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,7:109:0.06422:65:-100:0.1615:2,2,1,1,1,0,13,42,7,22,7,18:100:100 +8 31698205 . T C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.37+201258T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31698205T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.711 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,7:109:0.06422:65:-100:0.1615:2,2,1,1,1,0,13,42,7,22,7,18:100:100 +8 31698205 . T C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.745+199960T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31698205T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.711 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,7:109:0.06422:65:-100:0.1615:2,2,1,1,1,0,13,42,7,22,7,18:100:100 +8 31721178 . C A 100 PASS DP=96;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.37+224231C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31721178C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.439 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,5:96:0.05208:65:-99.0309:0.1724:2,0,1,0,0,2,18,29,14,14,9,12:72.324:100 +8 31721178 . C A 100 PASS DP=96;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.37+224231C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31721178C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.439 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,5:96:0.05208:65:-99.0309:0.1724:2,0,1,0,0,2,18,29,14,14,9,12:72.324:100 +8 31721178 . C A 100 PASS DP=96;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.745+222933C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31721178C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.439 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,5:96:0.05208:65:-99.0309:0.1724:2,0,1,0,0,2,18,29,14,14,9,12:72.324:100 +8 31721207 . C T 100 PASS DP=100;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.37+224260C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31721207C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19037;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.615606;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,65:100:0.65:65:-100:0.1597:10,20,8,13,4,10,20,31,11,17,7,14:100:100 +8 31721207 . C T 100 PASS DP=100;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.37+224260C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31721207C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19037;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.615606;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,65:100:0.65:65:-100:0.1597:10,20,8,13,4,10,20,31,11,17,7,14:100:100 +8 31721207 . C T 100 PASS DP=100;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.745+222962C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31721207C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19037;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.615606;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,65:100:0.65:65:-100:0.1597:10,20,8,13,4,10,20,31,11,17,7,14:100:100 +8 31940740 . C A 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.37+443793C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31940740C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1807;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0583883;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.492 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,19:89:0.21348:65:-100:0.1524:1,6,1,5,2,4,13,29,14,15,7,11:100:100 +8 31940740 . C A 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.37+443793C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31940740C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1807;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0583883;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.492 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,19:89:0.21348:65:-100:0.1524:1,6,1,5,2,4,13,29,14,15,7,11:100:100 +8 31940740 . C A 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.745+442495C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.31940740C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1807;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0583883;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.492 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,19:89:0.21348:65:-100:0.1524:1,6,1,5,2,4,13,29,14,15,7,11:100:100 +8 32405976 . C T 100 PASS DP=49;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.38-47370C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405976C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,24:49:0.4898:65:-100:0.125:7,4,3,3,5,2,18,9,5,5,8,4:100:100 +8 32405976 . C T 100 PASS DP=49;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.38-47370C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405976C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,24:49:0.4898:65:-100:0.125:7,4,3,3,5,2,18,9,5,5,8,4:100:100 +8 32405976 . C T 100 PASS DP=49;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.-269C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405976C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,24:49:0.4898:65:-100:0.125:7,4,3,3,5,2,18,9,5,5,8,4:100:100 +8 32405976 . C T 100 PASS DP=49;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/4;CSQ_INTRON=.;CSQ_Feature=NM_001160007.2;CSQ_HGVSc=NM_001160007.2:c.-269C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405976C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,24:49:0.4898:65:-100:0.125:7,4,3,3,5,2,18,9,5,5,8,4:100:100 +8 32405976 . C T 100 PASS DP=49;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/11;CSQ_INTRON=.;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.-269C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405976C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,24:49:0.4898:65:-100:0.125:7,4,3,3,5,2,18,9,5,5,8,4:100:100 +8 32405976 . C T 100 PASS DP=49;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.-269C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405976C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,24:49:0.4898:65:-100:0.125:7,4,3,3,5,2,18,9,5,5,8,4:100:100 +8 32405976 . C T 100 PASS DP=49;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.746-47370C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405976C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,24:49:0.4898:65:-100:0.125:7,4,3,3,5,2,18,9,5,5,8,4:100:100 +8 32405979 . T C 100 PASS DP=50;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.38-47367T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405979T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24074;CSQ_gnomADg_AN=30590;CSQ_gnomADg_AF=0.786989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,38:50:0.76:65:-100:0.1228:12,6,4,5,8,3,19,9,5,5,9,3:100:100 +8 32405979 . T C 100 PASS DP=50;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.38-47367T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405979T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24074;CSQ_gnomADg_AN=30590;CSQ_gnomADg_AF=0.786989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,38:50:0.76:65:-100:0.1228:12,6,4,5,8,3,19,9,5,5,9,3:100:100 +8 32405979 . T C 100 PASS DP=50;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.-266T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405979T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24074;CSQ_gnomADg_AN=30590;CSQ_gnomADg_AF=0.786989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,38:50:0.76:65:-100:0.1228:12,6,4,5,8,3,19,9,5,5,9,3:100:100 +8 32405979 . T C 100 PASS DP=50;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/4;CSQ_INTRON=.;CSQ_Feature=NM_001160007.2;CSQ_HGVSc=NM_001160007.2:c.-266T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405979T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24074;CSQ_gnomADg_AN=30590;CSQ_gnomADg_AF=0.786989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,38:50:0.76:65:-100:0.1228:12,6,4,5,8,3,19,9,5,5,9,3:100:100 +8 32405979 . T C 100 PASS DP=50;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/11;CSQ_INTRON=.;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.-266T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405979T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24074;CSQ_gnomADg_AN=30590;CSQ_gnomADg_AF=0.786989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,38:50:0.76:65:-100:0.1228:12,6,4,5,8,3,19,9,5,5,9,3:100:100 +8 32405979 . T C 100 PASS DP=50;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.-266T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405979T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24074;CSQ_gnomADg_AN=30590;CSQ_gnomADg_AF=0.786989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,38:50:0.76:65:-100:0.1228:12,6,4,5,8,3,19,9,5,5,9,3:100:100 +8 32405979 . T C 100 PASS DP=50;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.746-47367T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32405979T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24074;CSQ_gnomADg_AN=30590;CSQ_gnomADg_AF=0.786989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,38:50:0.76:65:-100:0.1228:12,6,4,5,8,3,19,9,5,5,9,3:100:100 +8 32406148 . C A 100 PASS DP=48;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.38-47198C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32406148C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12086;CSQ_gnomADg_AN=30754;CSQ_gnomADg_AF=0.39299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946;CSQ_COSMICncMuts=COSV55179946;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=10.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,10:48:0.20833:65:-100:0.1429:2,1,2,1,0,4,8,10,8,7,6,9:100:100 +8 32406148 . C A 100 PASS DP=48;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.38-47198C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32406148C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12086;CSQ_gnomADg_AN=30754;CSQ_gnomADg_AF=0.39299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946;CSQ_COSMICncMuts=COSV55179946;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=10.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,10:48:0.20833:65:-100:0.1429:2,1,2,1,0,4,8,10,8,7,6,9:100:100 +8 32406148 . C A 100 PASS DP=48;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.-97C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32406148C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12086;CSQ_gnomADg_AN=30754;CSQ_gnomADg_AF=0.39299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946;CSQ_COSMICncMuts=COSV55179946;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=10.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,10:48:0.20833:65:-100:0.1429:2,1,2,1,0,4,8,10,8,7,6,9:100:100 +8 32406148 . C A 100 PASS DP=48;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/4;CSQ_INTRON=.;CSQ_Feature=NM_001160007.2;CSQ_HGVSc=NM_001160007.2:c.-97C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32406148C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12086;CSQ_gnomADg_AN=30754;CSQ_gnomADg_AF=0.39299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946;CSQ_COSMICncMuts=COSV55179946;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=10.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,10:48:0.20833:65:-100:0.1429:2,1,2,1,0,4,8,10,8,7,6,9:100:100 +8 32406148 . C A 100 PASS DP=48;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/11;CSQ_INTRON=.;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.-97C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32406148C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12086;CSQ_gnomADg_AN=30754;CSQ_gnomADg_AF=0.39299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946;CSQ_COSMICncMuts=COSV55179946;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=10.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,10:48:0.20833:65:-100:0.1429:2,1,2,1,0,4,8,10,8,7,6,9:100:100 +8 32406148 . C A 100 PASS DP=48;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.-97C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32406148C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12086;CSQ_gnomADg_AN=30754;CSQ_gnomADg_AF=0.39299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946;CSQ_COSMICncMuts=COSV55179946;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=10.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,10:48:0.20833:65:-100:0.1429:2,1,2,1,0,4,8,10,8,7,6,9:100:100 +8 32406148 . C A 100 PASS DP=48;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.746-47198C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32406148C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12086;CSQ_gnomADg_AN=30754;CSQ_gnomADg_AF=0.39299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946&COSV55179946;CSQ_COSMICncMuts=COSV55179946;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRinta&NRG1:A13int&NRG1:A13inta&NRG1:A249int&NRG1:A249inta;CSQ_CADD_PHRED=10.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,10:48:0.20833:65:-100:0.1429:2,1,2,1,0,4,8,10,8,7,6,9:100:100 +8 32453358 . G A 100 PASS DP=76;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.50G>A;CSQ_HGVSp=NP_001153467.1:p.Arg17Gln;CSQ_HGVSg=8:g.32453358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.316572;CSQ_gnomADe_AC=96400;CSQ_gnomADe_AN=242190;CSQ_gnomADe_AF=0.398035;CSQ_gnomADe_Hom=21371;CSQ_COSMICcMuts=COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:R17Q&NRG1:R253Q&NRG1:R38Q;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,32:76:0.42105:65:-100:0.1915:6,11,5,4,1,5,14,21,10,10,3,18:100:100 +8 32453358 . G A 100 PASS DP=76;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.50G>A;CSQ_HGVSp=NP_001153473.1:p.Arg17Gln;CSQ_HGVSg=8:g.32453358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.316572;CSQ_gnomADe_AC=96400;CSQ_gnomADe_AN=242190;CSQ_gnomADe_AF=0.398035;CSQ_gnomADe_Hom=21371;CSQ_COSMICcMuts=COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:R17Q&NRG1:R253Q&NRG1:R38Q;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,32:76:0.42105:65:-100:0.1915:6,11,5,4,1,5,14,21,10,10,3,18:100:100 +8 32453358 . G A 100 PASS DP=76;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/13;CSQ_INTRON=.;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.113G>A;CSQ_HGVSp=NP_001153476.1:p.Arg38Gln;CSQ_HGVSg=8:g.32453358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.316572;CSQ_gnomADe_AC=96400;CSQ_gnomADe_AN=242190;CSQ_gnomADe_AF=0.398035;CSQ_gnomADe_Hom=21371;CSQ_COSMICcMuts=COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:R17Q&NRG1:R253Q&NRG1:R38Q;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,32:76:0.42105:65:-100:0.1915:6,11,5,4,1,5,14,21,10,10,3,18:100:100 +8 32453358 . G A 100 PASS DP=76;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_001160007.2;CSQ_HGVSc=NM_001160007.2:c.113G>A;CSQ_HGVSp=NP_001153479.1:p.Arg38Gln;CSQ_HGVSg=8:g.32453358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.316572;CSQ_gnomADe_AC=96400;CSQ_gnomADe_AN=242190;CSQ_gnomADe_AF=0.398035;CSQ_gnomADe_Hom=21371;CSQ_COSMICcMuts=COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:R17Q&NRG1:R253Q&NRG1:R38Q;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,32:76:0.42105:65:-100:0.1915:6,11,5,4,1,5,14,21,10,10,3,18:100:100 +8 32453358 . G A 100 PASS DP=76;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.113G>A;CSQ_HGVSp=NP_001153480.1:p.Arg38Gln;CSQ_HGVSg=8:g.32453358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.316572;CSQ_gnomADe_AC=96400;CSQ_gnomADe_AN=242190;CSQ_gnomADe_AF=0.398035;CSQ_gnomADe_Hom=21371;CSQ_COSMICcMuts=COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:R17Q&NRG1:R253Q&NRG1:R38Q;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,32:76:0.42105:65:-100:0.1915:6,11,5,4,1,5,14,21,10,10,3,18:100:100 +8 32453358 . G A 100 PASS DP=76;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/13;CSQ_INTRON=.;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.113G>A;CSQ_HGVSp=NP_039250.2:p.Arg38Gln;CSQ_HGVSg=8:g.32453358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.316572;CSQ_gnomADe_AC=96400;CSQ_gnomADe_AN=242190;CSQ_gnomADe_AF=0.398035;CSQ_gnomADe_Hom=21371;CSQ_COSMICcMuts=COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:R17Q&NRG1:R253Q&NRG1:R38Q;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,32:76:0.42105:65:-100:0.1915:6,11,5,4,1,5,14,21,10,10,3,18:100:100 +8 32453358 . G A 100 PASS DP=76;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.758G>A;CSQ_HGVSp=NP_039256.2:p.Arg253Gln;CSQ_HGVSg=8:g.32453358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.316572;CSQ_gnomADe_AC=96400;CSQ_gnomADe_AN=242190;CSQ_gnomADe_AF=0.398035;CSQ_gnomADe_Hom=21371;CSQ_COSMICcMuts=COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787&COSV55177787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=NRG1:5UTR&NRG1:R17Q&NRG1:R253Q&NRG1:R38Q;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,32:76:0.42105:65:-100:0.1915:6,11,5,4,1,5,14,21,10,10,3,18:100:100 +8 32453510 . CA C 100 PASS DP=87;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.209del;CSQ_HGVSp=NP_001153467.1:p.Lys70SerfsTer24;CSQ_HGVSg=8:g.32453517del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,5:87:0.05747:65:-48.0103:0:1,2,0,1,0,1,16,26,9,14,6,16:62.776:100 +8 32453510 . CA C 100 PASS DP=87;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.209del;CSQ_HGVSp=NP_001153473.1:p.Lys70SerfsTer24;CSQ_HGVSg=8:g.32453517del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,5:87:0.05747:65:-48.0103:0:1,2,0,1,0,1,16,26,9,14,6,16:62.776:100 +8 32453510 . CA C 100 PASS DP=87;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/13;CSQ_INTRON=.;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.272del;CSQ_HGVSp=NP_001153476.1:p.Lys91SerfsTer24;CSQ_HGVSg=8:g.32453517del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,5:87:0.05747:65:-48.0103:0:1,2,0,1,0,1,16,26,9,14,6,16:62.776:100 +8 32453510 . CA C 100 PASS DP=87;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_001160007.2;CSQ_HGVSc=NM_001160007.2:c.272del;CSQ_HGVSp=NP_001153479.1:p.Lys91SerfsTer24;CSQ_HGVSg=8:g.32453517del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,5:87:0.05747:65:-48.0103:0:1,2,0,1,0,1,16,26,9,14,6,16:62.776:100 +8 32453510 . CA C 100 PASS DP=87;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.272del;CSQ_HGVSp=NP_001153480.1:p.Lys91SerfsTer24;CSQ_HGVSg=8:g.32453517del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,5:87:0.05747:65:-48.0103:0:1,2,0,1,0,1,16,26,9,14,6,16:62.776:100 +8 32453510 . CA C 100 PASS DP=87;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/13;CSQ_INTRON=.;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.272del;CSQ_HGVSp=NP_039250.2:p.Lys91SerfsTer24;CSQ_HGVSg=8:g.32453517del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,5:87:0.05747:65:-48.0103:0:1,2,0,1,0,1,16,26,9,14,6,16:62.776:100 +8 32453510 . CA C 100 PASS DP=87;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.917del;CSQ_HGVSp=NP_039256.2:p.Lys306SerfsTer24;CSQ_HGVSg=8:g.32453517del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458&COSV55149458;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,5:87:0.05747:65:-48.0103:0:1,2,0,1,0,1,16,26,9,14,6,16:62.776:100 +8 32505337 . C A 100 PASS DP=97;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.388+33255C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32505337C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0137505;CSQ_gnomADe_AC=853;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.003467;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,27:97:0.27835:65:-100:0.1339:3,7,4,5,4,4,12,32,6,18,12,17:100:100 +8 32505337 . C A 100 PASS DP=97;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.337+42136C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32505337C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0137505;CSQ_gnomADe_AC=853;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.003467;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,27:97:0.27835:65:-100:0.1339:3,7,4,5,4,4,12,32,6,18,12,17:100:100 +8 32505337 . C A 100 PASS DP=97;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.502+30934C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32505337C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0137505;CSQ_gnomADe_AC=853;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.003467;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,27:97:0.27835:65:-100:0.1339:3,7,4,5,4,4,12,32,6,18,12,17:100:100 +8 32505337 . C A 100 PASS DP=97;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_001160007.2;CSQ_HGVSc=NM_001160007.2:c.400+42136C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32505337C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0137505;CSQ_gnomADe_AC=853;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.003467;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,27:97:0.27835:65:-100:0.1339:3,7,4,5,4,4,12,32,6,18,12,17:100:100 +8 32505337 . C A 100 PASS DP=97;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.502+30934C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32505337C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0137505;CSQ_gnomADe_AC=853;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.003467;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,27:97:0.27835:65:-100:0.1339:3,7,4,5,4,4,12,32,6,18,12,17:100:100 +8 32505337 . C A 100 PASS DP=97;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.502+30934C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32505337C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0137505;CSQ_gnomADe_AC=853;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.003467;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,27:97:0.27835:65:-100:0.1339:3,7,4,5,4,4,12,32,6,18,12,17:100:100 +8 32505337 . C A 100 PASS DP=97;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_013959.4;CSQ_HGVSc=NM_013959.4:c.101C>A;CSQ_HGVSp=NP_039253.1:p.Ala34Glu;CSQ_HGVSg=8:g.32505337C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0137505;CSQ_gnomADe_AC=853;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.003467;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.038;CSQ_Mastermind_MMID3=NRG1:A34E;CSQ_CADD_PHRED=16.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,27:97:0.27835:65:-100:0.1339:3,7,4,5,4,4,12,32,6,18,12,17:100:100 +8 32505337 . C A 100 PASS DP=97;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.1045+42136C>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32505337C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=425;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0137505;CSQ_gnomADe_AC=853;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.003467;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,27:97:0.27835:65:-100:0.1339:3,7,4,5,4,4,12,32,6,18,12,17:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.389-6056del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001159996.3;CSQ_HGVSc=NM_001159996.3:c.-110del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.338-6056del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.503-6056del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_001160007.2;CSQ_HGVSc=NM_001160007.2:c.401-6056del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.503-6056del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.503-6056del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_013959.4;CSQ_HGVSc=NM_013959.4:c.668-6056del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32579404 . AT A 100 PASS DP=118;CSQ_Allele=-;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.1046-6056del;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32579411del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782&COSV55155782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.549 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,11:118:0.09322:65:-100:0:2,3,1,2,0,3,21,35,6,22,12,22:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.518+489T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/8;CSQ_Feature=NM_001159996.3;CSQ_HGVSc=NM_001159996.3:c.170+489T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/10;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.467+489T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.632+489T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001160007.2;CSQ_HGVSc=NM_001160007.2:c.*485T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/10;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.632+489T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.632+489T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_013959.4;CSQ_HGVSc=NM_013959.4:c.797+489T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32586085 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.1175+489T>C;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32586085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3471;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.112091;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NRG1:3UTR&NRG1:5UTR&NRG1:5UTRint&NRG1:5UTRintd&NRG1:K156int&NRG1:K156intd&NRG1:K173int&NRG1:K173intd&NRG1:K177int&NRG1:K177intd&NRG1:K190int&NRG1:K190intd&NRG1:K211int&NRG1:K211intd&NRG1:K266int&NRG1:K266intd&NRG1:K392int&NRG1:K392intd&NRG1:K57int&NRG1:K57intd;CSQ_CADD_PHRED=5.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,15:105:0.14286:65:-100:0.1393:5,6,0,1,1,2,15,39,9,16,6,20:100:100 +8 32600233 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.559G>A;CSQ_HGVSp=NP_001153467.1:p.Val187Ile;CSQ_HGVSg=8:g.32600233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=8.1242e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.416;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1484:1,2,2,2,1,1,19,27,15,22,10,16:100:100 +8 32600233 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/8;CSQ_Feature=NM_001159996.3;CSQ_HGVSc=NM_001159996.3:c.238+640G>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.32600233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=8.1242e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1484:1,2,2,2,1,1,19,27,15,22,10,16:100:100 +8 32600233 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.508G>A;CSQ_HGVSp=NP_001153473.1:p.Val170Ile;CSQ_HGVSg=8:g.32600233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=8.1242e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.416;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1484:1,2,2,2,1,1,19,27,15,22,10,16:100:100 +8 32600233 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/13;CSQ_INTRON=.;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.673G>A;CSQ_HGVSp=NP_001153476.1:p.Val225Ile;CSQ_HGVSg=8:g.32600233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=8.1242e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.416;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1484:1,2,2,2,1,1,19,27,15,22,10,16:100:100 +8 32600233 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.673G>A;CSQ_HGVSp=NP_001153480.1:p.Val225Ile;CSQ_HGVSg=8:g.32600233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=8.1242e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.416;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1484:1,2,2,2,1,1,19,27,15,22,10,16:100:100 +8 32600233 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/13;CSQ_INTRON=.;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.673G>A;CSQ_HGVSp=NP_039250.2:p.Val225Ile;CSQ_HGVSg=8:g.32600233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=8.1242e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.416;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1484:1,2,2,2,1,1,19,27,15,22,10,16:100:100 +8 32600233 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_013959.4;CSQ_HGVSc=NM_013959.4:c.838G>A;CSQ_HGVSp=NP_039253.1:p.Val280Ile;CSQ_HGVSg=8:g.32600233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=8.1242e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.416;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1484:1,2,2,2,1,1,19,27,15,22,10,16:100:100 +8 32600233 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_013962.3;CSQ_HGVSc=NM_013962.3:c.1216G>A;CSQ_HGVSp=NP_039256.2:p.Val406Ile;CSQ_HGVSg=8:g.32600233G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=8.1242e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762&COSV55149762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.416;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.1484:1,2,2,2,1,1,19,27,15,22,10,16:100:100 +8 32613983 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.767T>C;CSQ_HGVSp=NP_001153467.1:p.Met256Thr;CSQ_HGVSg=8:g.32613983T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4204;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.13585;CSQ_gnomADe_AC=32420;CSQ_gnomADe_AN=245546;CSQ_gnomADe_AF=0.132032;CSQ_gnomADe_Hom=2822;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.134;CSQ_Mastermind_MMID3=NRG1:M132T&NRG1:M135T&NRG1:M239T&NRG1:M256T&NRG1:M273T&NRG1:M286T&NRG1:M289T&NRG1:M294T&NRG1:M31T&NRG1:M349T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,17:138:0.12319:65:-100:0.1375:3,5,2,3,1,3,19,43,11,26,10,29:100:100 +8 32613983 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/9;CSQ_INTRON=.;CSQ_Feature=NM_001159996.3;CSQ_HGVSc=NM_001159996.3:c.404T>C;CSQ_HGVSp=NP_001153468.1:p.Met135Thr;CSQ_HGVSg=8:g.32613983T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4204;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.13585;CSQ_gnomADe_AC=32420;CSQ_gnomADe_AN=245546;CSQ_gnomADe_AF=0.132032;CSQ_gnomADe_Hom=2822;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.134;CSQ_Mastermind_MMID3=NRG1:M132T&NRG1:M135T&NRG1:M239T&NRG1:M256T&NRG1:M273T&NRG1:M286T&NRG1:M289T&NRG1:M294T&NRG1:M31T&NRG1:M349T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,17:138:0.12319:65:-100:0.1375:3,5,2,3,1,3,19,43,11,26,10,29:100:100 +8 32613983 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.716T>C;CSQ_HGVSp=NP_001153473.1:p.Met239Thr;CSQ_HGVSg=8:g.32613983T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4204;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.13585;CSQ_gnomADe_AC=32420;CSQ_gnomADe_AN=245546;CSQ_gnomADe_AF=0.132032;CSQ_gnomADe_Hom=2822;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.134;CSQ_Mastermind_MMID3=NRG1:M132T&NRG1:M135T&NRG1:M239T&NRG1:M256T&NRG1:M273T&NRG1:M286T&NRG1:M289T&NRG1:M294T&NRG1:M31T&NRG1:M349T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,17:138:0.12319:65:-100:0.1375:3,5,2,3,1,3,19,43,11,26,10,29:100:100 +8 32613983 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.857T>C;CSQ_HGVSp=NP_001153476.1:p.Met286Thr;CSQ_HGVSg=8:g.32613983T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4204;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.13585;CSQ_gnomADe_AC=32420;CSQ_gnomADe_AN=245546;CSQ_gnomADe_AF=0.132032;CSQ_gnomADe_Hom=2822;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.134;CSQ_Mastermind_MMID3=NRG1:M132T&NRG1:M135T&NRG1:M239T&NRG1:M256T&NRG1:M273T&NRG1:M286T&NRG1:M289T&NRG1:M294T&NRG1:M31T&NRG1:M349T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,17:138:0.12319:65:-100:0.1375:3,5,2,3,1,3,19,43,11,26,10,29:100:100 +8 32613983 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/11;CSQ_INTRON=.;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.857T>C;CSQ_HGVSp=NP_001153480.1:p.Met286Thr;CSQ_HGVSg=8:g.32613983T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4204;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.13585;CSQ_gnomADe_AC=32420;CSQ_gnomADe_AN=245546;CSQ_gnomADe_AF=0.132032;CSQ_gnomADe_Hom=2822;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.134;CSQ_Mastermind_MMID3=NRG1:M132T&NRG1:M135T&NRG1:M239T&NRG1:M256T&NRG1:M273T&NRG1:M286T&NRG1:M289T&NRG1:M294T&NRG1:M31T&NRG1:M349T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,17:138:0.12319:65:-100:0.1375:3,5,2,3,1,3,19,43,11,26,10,29:100:100 +8 32613983 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/13;CSQ_INTRON=.;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.881T>C;CSQ_HGVSp=NP_039250.2:p.Met294Thr;CSQ_HGVSg=8:g.32613983T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4204;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.13585;CSQ_gnomADe_AC=32420;CSQ_gnomADe_AN=245546;CSQ_gnomADe_AF=0.132032;CSQ_gnomADe_Hom=2822;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.134;CSQ_Mastermind_MMID3=NRG1:M132T&NRG1:M135T&NRG1:M239T&NRG1:M256T&NRG1:M273T&NRG1:M286T&NRG1:M289T&NRG1:M294T&NRG1:M31T&NRG1:M349T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,17:138:0.12319:65:-100:0.1375:3,5,2,3,1,3,19,43,11,26,10,29:100:100 +8 32614018 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_001159995.3;CSQ_HGVSc=NM_001159995.3:c.802C>T;CSQ_HGVSp=NP_001153467.1:p.Pro268Ser;CSQ_HGVSg=8:g.32614018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559;CSQ_COSMICncMuts=COSV55180559&COSV55180559&COSV55180559;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.318;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,8:122:0.06557:65:-97.4473:0.1921:1,2,2,1,0,2,16,41,11,19,12,23:87.859:100 +8 32614018 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/9;CSQ_INTRON=.;CSQ_Feature=NM_001159996.3;CSQ_HGVSc=NM_001159996.3:c.439C>T;CSQ_HGVSp=NP_001153468.1:p.Pro147Ser;CSQ_HGVSg=8:g.32614018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559;CSQ_COSMICncMuts=COSV55180559&COSV55180559&COSV55180559;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.318;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,8:122:0.06557:65:-97.4473:0.1921:1,2,2,1,0,2,16,41,11,19,12,23:87.859:100 +8 32614018 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_001160001.3;CSQ_HGVSc=NM_001160001.3:c.751C>T;CSQ_HGVSp=NP_001153473.1:p.Pro251Ser;CSQ_HGVSg=8:g.32614018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559;CSQ_COSMICncMuts=COSV55180559&COSV55180559&COSV55180559;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.318;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,8:122:0.06557:65:-97.4473:0.1921:1,2,2,1,0,2,16,41,11,19,12,23:87.859:100 +8 32614018 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001160004.3;CSQ_HGVSc=NM_001160004.3:c.892C>T;CSQ_HGVSp=NP_001153476.1:p.Pro298Ser;CSQ_HGVSg=8:g.32614018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559;CSQ_COSMICncMuts=COSV55180559&COSV55180559&COSV55180559;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.318;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,8:122:0.06557:65:-97.4473:0.1921:1,2,2,1,0,2,16,41,11,19,12,23:87.859:100 +8 32614018 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/11;CSQ_INTRON=.;CSQ_Feature=NM_001160008.2;CSQ_HGVSc=NM_001160008.2:c.892C>T;CSQ_HGVSp=NP_001153480.1:p.Pro298Ser;CSQ_HGVSg=8:g.32614018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559;CSQ_COSMICncMuts=COSV55180559&COSV55180559&COSV55180559;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.318;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,8:122:0.06557:65:-97.4473:0.1921:1,2,2,1,0,2,16,41,11,19,12,23:87.859:100 +8 32614018 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=NRG1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/13;CSQ_INTRON=.;CSQ_Feature=NM_013956.5;CSQ_HGVSc=NM_013956.5:c.916C>T;CSQ_HGVSp=NP_039250.2:p.Pro306Ser;CSQ_HGVSg=8:g.32614018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559&COSV55180559;CSQ_COSMICncMuts=COSV55180559&COSV55180559&COSV55180559;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.318;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,8:122:0.06557:65:-97.4473:0.1921:1,2,2,1,0,2,16,41,11,19,12,23:87.859:100 +8 37690615 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=ADGRA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/19;CSQ_INTRON=.;CSQ_Feature=NM_032777.10;CSQ_HGVSc=NM_032777.10:c.1185G>A;CSQ_HGVSp=NP_116166.9:p.Pro395%3D;CSQ_HGVSg=8:g.37690615G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1794;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.0581373;CSQ_gnomADe_AC=3635;CSQ_gnomADe_AN=239682;CSQ_gnomADe_AF=0.0151659;CSQ_gnomADe_Hom=305;CSQ_COSMICcMuts=COSV106101407&COSV106101407;CSQ_COSMICncMuts=COSV106101407;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ADGRA2:P395P;CSQ_CADD_PHRED=0.525 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,30:113:0.26549:65:-100:0.1102:0,18,3,3,2,4,11,49,7,17,7,22:100:100 +8 37698887 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ADGRA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_032777.10;CSQ_HGVSc=NM_032777.10:c.3031A>G;CSQ_HGVSp=NP_116166.9:p.Ser1011Gly;CSQ_HGVSg=8:g.37698887A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55102826&COSV55102826;CSQ_COSMICncMuts=COSV55102826&COSV55102826;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=0.027;CSQ_Mastermind_MMID3=ADGRA2:S1011G;CSQ_CADD_PHRED=13.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,27:125:0.216:65:-100:0.0942:4,7,1,6,1,8,21,47,10,20,6,21:100:100 +8 37699195 . C G 100 PASS DP=47;CSQ_Allele=G;CSQ_SYMBOL=ADGRA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_032777.10;CSQ_HGVSc=NM_032777.10:c.3339C>G;CSQ_HGVSp=NP_116166.9:p.Gly1113%3D;CSQ_HGVSg=8:g.37699195C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23585;CSQ_gnomADg_AN=30750;CSQ_gnomADg_AF=0.766992;CSQ_gnomADe_AC=91116;CSQ_gnomADe_AN=121046;CSQ_gnomADe_AF=0.752739;CSQ_gnomADe_Hom=34589;CSQ_COSMICcMuts=COSV55102516&COSV55102516;CSQ_COSMICncMuts=COSV55102516&COSV55102516;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ADGRA2:G1113G;CSQ_CADD_PHRED=5.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:2,44:47:0.93617:65:-100:0.2167:7,12,10,6,4,5,7,13,10,6,6,5:100:100 +8 37699516 . C T 100 PASS DP=34;CSQ_Allele=T;CSQ_SYMBOL=ADGRA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_032777.10;CSQ_HGVSc=NM_032777.10:c.3660C>T;CSQ_HGVSp=NP_116166.9:p.Gly1220%3D;CSQ_HGVSg=8:g.37699516C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12132;CSQ_gnomADg_AN=30578;CSQ_gnomADg_AF=0.396756;CSQ_gnomADe_AC=47134;CSQ_gnomADe_AN=103278;CSQ_gnomADe_AF=0.45638;CSQ_gnomADe_Hom=11398;CSQ_COSMICcMuts=COSV55104307&COSV55104307;CSQ_COSMICncMuts=COSV55104307&COSV55104307&COSV55104307;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ADGRA2:G1220G;CSQ_CADD_PHRED=9.499 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,16:34:0.47059:65:-100:0.0556:5,1,4,2,3,1,7,3,12,3,6,3:100:100 +8 38271209 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_001174064.2;CSQ_HGVSc=NM_001174064.2:c.2376C>T;CSQ_HGVSp=NP_001167535.1:p.Pro792%3D;CSQ_HGVSg=8:g.38271209G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1456608;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pfeiffer_syndrome&Hypogonadotropic_hypogonadism_2_with_or_without_anosmia;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=6.47836e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=243106;CSQ_gnomADe_AF=1.64537e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597;CSQ_COSMICncMuts=COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:P711P&FGFR1:P713P&FGFR1:P792P&FGFR1:P800P&FGFR1:P802P&FGFR1:P833P;CSQ_CADD_PHRED=7.823 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,6:147:0.04082:65:-47.0761:0.1353:1,2,0,1,0,2,20,52,10,23,14,28:63.036:100 +8 38271209 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001174066.2;CSQ_HGVSc=NM_001174066.2:c.2139C>T;CSQ_HGVSp=NP_001167537.1:p.Pro713%3D;CSQ_HGVSg=8:g.38271209G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1456608;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pfeiffer_syndrome&Hypogonadotropic_hypogonadism_2_with_or_without_anosmia;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=6.47836e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=243106;CSQ_gnomADe_AF=1.64537e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597;CSQ_COSMICncMuts=COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:P711P&FGFR1:P713P&FGFR1:P792P&FGFR1:P800P&FGFR1:P802P&FGFR1:P833P;CSQ_CADD_PHRED=7.823 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,6:147:0.04082:65:-47.0761:0.1353:1,2,0,1,0,2,20,52,10,23,14,28:63.036:100 +8 38271209 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_001174067.2;CSQ_HGVSc=NM_001174067.2:c.2499C>T;CSQ_HGVSp=NP_001167538.1:p.Pro833%3D;CSQ_HGVSg=8:g.38271209G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1456608;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pfeiffer_syndrome&Hypogonadotropic_hypogonadism_2_with_or_without_anosmia;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=6.47836e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=243106;CSQ_gnomADe_AF=1.64537e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597;CSQ_COSMICncMuts=COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597&COSV58337597;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:P711P&FGFR1:P713P&FGFR1:P792P&FGFR1:P800P&FGFR1:P802P&FGFR1:P833P;CSQ_CADD_PHRED=7.823 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,6:147:0.04082:65:-47.0761:0.1353:1,2,0,1,0,2,20,52,10,23,14,28:63.036:100 +8 38271765 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/19;CSQ_INTRON=.;CSQ_Feature=NM_001174064.2;CSQ_HGVSc=NM_001174064.2:c.2061C>T;CSQ_HGVSp=NP_001167535.1:p.Gly687%3D;CSQ_HGVSg=8:g.38271765G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1569183;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pfeiffer_syndrome&Hypogonadotropic_hypogonadism_2_with_or_without_anosmia;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=6.47082e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246094;CSQ_gnomADe_AF=4.06349e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939;CSQ_COSMICncMuts=COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:G606G&FGFR1:G687G&FGFR1:G697G&FGFR1:G728G;CSQ_CADD_PHRED=2.231 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,6:112:0.05357:65:-99.2064:0.1181:2,2,0,1,0,1,16,39,10,17,10,20:68.188:100 +8 38271765 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/17;CSQ_INTRON=.;CSQ_Feature=NM_001174066.2;CSQ_HGVSc=NM_001174066.2:c.1824C>T;CSQ_HGVSp=NP_001167537.1:p.Gly608%3D;CSQ_HGVSg=8:g.38271765G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1569183;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pfeiffer_syndrome&Hypogonadotropic_hypogonadism_2_with_or_without_anosmia;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=6.47082e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246094;CSQ_gnomADe_AF=4.06349e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939;CSQ_COSMICncMuts=COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.231 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,6:112:0.05357:65:-99.2064:0.1181:2,2,0,1,0,1,16,39,10,17,10,20:68.188:100 +8 38271765 . G A 100 PASS DP=112;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/19;CSQ_INTRON=.;CSQ_Feature=NM_001174067.2;CSQ_HGVSc=NM_001174067.2:c.2184C>T;CSQ_HGVSp=NP_001167538.1:p.Gly728%3D;CSQ_HGVSg=8:g.38271765G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1569183;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pfeiffer_syndrome&Hypogonadotropic_hypogonadism_2_with_or_without_anosmia;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=6.47082e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246094;CSQ_gnomADe_AF=4.06349e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939;CSQ_COSMICncMuts=COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939&COSV58328939;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:G606G&FGFR1:G687G&FGFR1:G697G&FGFR1:G728G;CSQ_CADD_PHRED=2.231 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,6:112:0.05357:65:-99.2064:0.1181:2,2,0,1,0,1,16,39,10,17,10,20:68.188:100 +8 38279368 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/19;CSQ_INTRON=.;CSQ_Feature=NM_001174064.2;CSQ_HGVSc=NM_001174064.2:c.1004C>T;CSQ_HGVSp=NP_001167535.1:p.Ala335Val;CSQ_HGVSg=8:g.38279368G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1219296;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754;CSQ_COSMICncMuts=COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.90;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.535;CSQ_Mastermind_MMID3=FGFR1:A252V&FGFR1:A254V&FGFR1:A335V&FGFR1:A341V&FGFR1:A343V&FGFR1:A374V;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,9:123:0.07317:65:-100:0.1338:1,1,1,3,0,3,22,42,15,16,8,20:100:100 +8 38279368 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/17;CSQ_INTRON=.;CSQ_Feature=NM_001174066.2;CSQ_HGVSc=NM_001174066.2:c.761C>T;CSQ_HGVSp=NP_001167537.1:p.Ala254Val;CSQ_HGVSg=8:g.38279368G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1219296;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754;CSQ_COSMICncMuts=COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.90;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.535;CSQ_Mastermind_MMID3=FGFR1:A252V&FGFR1:A254V&FGFR1:A335V&FGFR1:A341V&FGFR1:A343V&FGFR1:A374V;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,9:123:0.07317:65:-100:0.1338:1,1,1,3,0,3,22,42,15,16,8,20:100:100 +8 38279368 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/19;CSQ_INTRON=.;CSQ_Feature=NM_001174067.2;CSQ_HGVSc=NM_001174067.2:c.1121C>T;CSQ_HGVSp=NP_001167538.1:p.Ala374Val;CSQ_HGVSg=8:g.38279368G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1219296;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754;CSQ_COSMICncMuts=COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754&COSV58331754;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.90;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.535;CSQ_Mastermind_MMID3=FGFR1:A252V&FGFR1:A254V&FGFR1:A335V&FGFR1:A341V&FGFR1:A343V&FGFR1:A374V;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,9:123:0.07317:65:-100:0.1338:1,1,1,3,0,3,22,42,15,16,8,20:100:100 +8 38281658 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/18;CSQ_Feature=NM_001174064.2;CSQ_HGVSc=NM_001174064.2:c.912+369C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38281658G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5540;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.179346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572;CSQ_COSMICncMuts=COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:K221int&FGFR1:K221intd&FGFR1:K223int&FGFR1:K223intd&FGFR1:K304int&FGFR1:K304intd&FGFR1:K310int&FGFR1:K310intd&FGFR1:K312int&FGFR1:K312intd&FGFR1:K343int&FGFR1:K343intd;CSQ_CADD_PHRED=2.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,7:120:0.05833:65:-47.2915:0.1241:1,4,0,1,0,1,19,42,10,17,10,22:95.889:100 +8 38281658 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/16;CSQ_Feature=NM_001174066.2;CSQ_HGVSc=NM_001174066.2:c.669+369C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38281658G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5540;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.179346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572;CSQ_COSMICncMuts=COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:K221int&FGFR1:K221intd&FGFR1:K223int&FGFR1:K223intd&FGFR1:K304int&FGFR1:K304intd&FGFR1:K310int&FGFR1:K310intd&FGFR1:K312int&FGFR1:K312intd&FGFR1:K343int&FGFR1:K343intd;CSQ_CADD_PHRED=2.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,7:120:0.05833:65:-47.2915:0.1241:1,4,0,1,0,1,19,42,10,17,10,22:95.889:100 +8 38281658 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/18;CSQ_Feature=NM_001174067.2;CSQ_HGVSc=NM_001174067.2:c.1029+369C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38281658G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5540;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.179346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572;CSQ_COSMICncMuts=COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572&COSV58331572;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:K221int&FGFR1:K221intd&FGFR1:K223int&FGFR1:K223intd&FGFR1:K304int&FGFR1:K304intd&FGFR1:K310int&FGFR1:K310intd&FGFR1:K312int&FGFR1:K312intd&FGFR1:K343int&FGFR1:K343intd;CSQ_CADD_PHRED=2.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,7:120:0.05833:65:-47.2915:0.1241:1,4,0,1,0,1,19,42,10,17,10,22:95.889:100 +8 38284011 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/18;CSQ_Feature=NM_001174064.2;CSQ_HGVSc=NM_001174064.2:c.598-248G>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38284011C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1276722;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5381;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.174041;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254;CSQ_COSMICncMuts=COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:K116int&FGFR1:K116inta&FGFR1:K118int&FGFR1:K118inta&FGFR1:K199int&FGFR1:K199inta&FGFR1:K205int&FGFR1:K205inta&FGFR1:K207int&FGFR1:K207inta&FGFR1:K238int&FGFR1:K238inta;CSQ_CADD_PHRED=0.942 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,9:140:0.06429:65:-100:0.1463:0,5,0,2,0,2,18,54,6,30,10,22:63.548:100 +8 38284011 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/16;CSQ_Feature=NM_001174066.2;CSQ_HGVSc=NM_001174066.2:c.355-248G>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38284011C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1276722;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5381;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.174041;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254;CSQ_COSMICncMuts=COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:K116int&FGFR1:K116inta&FGFR1:K118int&FGFR1:K118inta&FGFR1:K199int&FGFR1:K199inta&FGFR1:K205int&FGFR1:K205inta&FGFR1:K207int&FGFR1:K207inta&FGFR1:K238int&FGFR1:K238inta;CSQ_CADD_PHRED=0.942 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,9:140:0.06429:65:-100:0.1463:0,5,0,2,0,2,18,54,6,30,10,22:63.548:100 +8 38284011 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/18;CSQ_Feature=NM_001174067.2;CSQ_HGVSc=NM_001174067.2:c.715-248G>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38284011C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1276722;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5381;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.174041;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254;CSQ_COSMICncMuts=COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254&COSV58329254;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR1:K116int&FGFR1:K116inta&FGFR1:K118int&FGFR1:K118inta&FGFR1:K199int&FGFR1:K199inta&FGFR1:K205int&FGFR1:K205inta&FGFR1:K207int&FGFR1:K207inta&FGFR1:K238int&FGFR1:K238inta;CSQ_CADD_PHRED=0.942 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,9:140:0.06429:65:-100:0.1463:0,5,0,2,0,2,18,54,6,30,10,22:63.548:100 +8 38285611 . G A 100 PASS DP=75;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/19;CSQ_INTRON=.;CSQ_Feature=NM_001174064.2;CSQ_HGVSc=NM_001174064.2:c.425C>T;CSQ_HGVSp=NP_001167535.1:p.Pro142Leu;CSQ_HGVSg=8:g.38285611G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004;CSQ_COSMICncMuts=COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.424;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,10:75:0.13333:65:-100:0.1848:2,2,0,2,0,4,13,25,2,10,4,21:100:100 +8 38285611 . G A 100 PASS DP=75;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_001174066.2;CSQ_HGVSc=NM_001174066.2:c.182C>T;CSQ_HGVSp=NP_001167537.1:p.Pro61Leu;CSQ_HGVSg=8:g.38285611G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004;CSQ_COSMICncMuts=COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.424;CSQ_Mastermind_MMID3=FGFR1:P148L&FGFR1:P148sra&FGFR1:P150L&FGFR1:P150sra&FGFR1:P61L;CSQ_CADD_PHRED=25.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,10:75:0.13333:65:-100:0.1848:2,2,0,2,0,4,13,25,2,10,4,21:100:100 +8 38285611 . G A 100 PASS DP=75;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/19;CSQ_INTRON=.;CSQ_Feature=NM_001174067.2;CSQ_HGVSc=NM_001174067.2:c.542C>T;CSQ_HGVSp=NP_001167538.1:p.Pro181Leu;CSQ_HGVSg=8:g.38285611G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004;CSQ_COSMICncMuts=COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004&COSV58329004;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.424;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,10:75:0.13333:65:-100:0.1848:2,2,0,2,0,4,13,25,2,10,4,21:100:100 +8 38288644 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/18;CSQ_Feature=NM_001174064.2;CSQ_HGVSc=NM_001174064.2:c.68-1178C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38288644G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.134 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,8:109:0.07339:65:-98.6903:0.1066:0,3,0,4,1,0,17,45,4,18,9,16:99.694:100 +8 38288644 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/16;CSQ_Feature=NM_001174066.2;CSQ_HGVSc=NM_001174066.2:c.92-2691C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38288644G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.134 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,8:109:0.07339:65:-98.6903:0.1066:0,3,0,4,1,0,17,45,4,18,9,16:99.694:100 +8 38288644 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=FGFR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/18;CSQ_Feature=NM_001174067.2;CSQ_HGVSc=NM_001174067.2:c.191-1178C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38288644G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.134 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,8:109:0.07339:65:-98.6903:0.1066:0,3,0,4,1,0,17,45,4,18,9,16:99.694:100 +8 38326224 . C T 100 PASS DP=62;CSQ_Allele=T;CSQ_SYMBOL=FGFR1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001174064.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38326224C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,6:62:0.09677:65:-53.8606:0.1014:1,0,1,2,0,2,8,18,7,13,9,7:93.465:100 +8 38326224 . C T 100 PASS DP=62;CSQ_Allele=T;CSQ_SYMBOL=FGFR1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001174066.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38326224C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,6:62:0.09677:65:-53.8606:0.1014:1,0,1,2,0,2,8,18,7,13,9,7:93.465:100 +8 38326224 . C T 100 PASS DP=62;CSQ_Allele=T;CSQ_SYMBOL=FGFR1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001174067.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=8:g.38326224C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,6:62:0.09677:65:-53.8606:0.1014:1,0,1,2,0,2,8,18,7,13,9,7:93.465:100 +8 41790866 . G C 100 PASS DP=113;CSQ_Allele=C;CSQ_SYMBOL=KAT6A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_006766.5;CSQ_HGVSc=NM_006766.5:c.4872C>G;CSQ_HGVSp=NP_006757.2:p.Val1624%3D;CSQ_HGVSg=8:g.41790866G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=587916;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inborn_genetic_diseases¬_provided;CSQ_gnomADg_AC=1146;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0370898;CSQ_gnomADe_AC=4587;CSQ_gnomADe_AN=222440;CSQ_gnomADe_AF=0.0206213;CSQ_gnomADe_Hom=111;CSQ_COSMICcMuts=COSV55909929&COSV55909929&COSV55909929;CSQ_COSMICncMuts=COSV55909929;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.117 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,7:113:0.06195:65:-100:0.1691:2,4,0,0,0,1,18,38,11,25,5,16:78.065:100 +8 41790869 . G A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=KAT6A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_006766.5;CSQ_HGVSc=NM_006766.5:c.4869C>T;CSQ_HGVSp=NP_006757.2:p.Ser1623%3D;CSQ_HGVSg=8:g.41790869G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=223530;CSQ_gnomADe_AF=2.23684e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55912610&COSV55912610&COSV55912610;CSQ_COSMICncMuts=COSV55912610;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.013 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,7:110:0.06364:65:-100:0.1971:2,4,0,0,0,1,21,33,10,25,5,16:80.431:100 +8 41794934 . C T 100 PASS DP=169;CSQ_Allele=T;CSQ_SYMBOL=KAT6A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/17;CSQ_INTRON=.;CSQ_Feature=NM_006766.5;CSQ_HGVSc=NM_006766.5:c.3192G>A;CSQ_HGVSp=NP_006757.2:p.Thr1064%3D;CSQ_HGVSg=8:g.41794934C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=587815;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inborn_genetic_diseases¬_provided;CSQ_gnomADg_AC=8718;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.282154;CSQ_gnomADe_AC=48770;CSQ_gnomADe_AN=246232;CSQ_gnomADe_AF=0.198065;CSQ_gnomADe_Hom=6327;CSQ_COSMICcMuts=COSV55906182&COSV55906182&COSV55906182;CSQ_COSMICncMuts=COSV55906182;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KAT6A:T1064T;CSQ_CADD_PHRED=2.017 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,46:169:0.27219:65:-100:0.1058:7,16,3,7,7,6,31,63,13,26,13,23:100:100 +8 41906024 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=KAT6A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/17;CSQ_INTRON=.;CSQ_Feature=NM_006766.5;CSQ_HGVSc=NM_006766.5:c.472G>A;CSQ_HGVSp=NP_006757.2:p.Gly158Ser;CSQ_HGVSg=8:g.41906024C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246134;CSQ_gnomADe_AF=8.12566e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55903272&COSV55903272&COSV55903272&COSV55903272;CSQ_COSMICncMuts=COSV55903272&COSV55903272;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.475;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,11:151:0.07285:65:-94.9486:0.142:0,5,1,4,0,1,24,53,7,33,16,18:100:100 +8 48701786 . A T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=76/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.10681T>A;CSQ_HGVSp=NP_001075109.1:p.Leu3561Met;CSQ_HGVSg=8:g.48701786A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=440194;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency¬_specified¬_provided;CSQ_gnomADg_AC=100;CSQ_gnomADg_AN=30684;CSQ_gnomADg_AF=0.00325903;CSQ_gnomADe_AC=1644;CSQ_gnomADe_AN=225254;CSQ_gnomADe_AF=0.00729843;CSQ_gnomADe_Hom=38;CSQ_COSMICcMuts=COSV58060395&COSV58060395;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.104;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,25:133:0.18797:65:-100:0.1474:5,6,3,3,3,5,25,49,12,17,10,20:100:100 +8 48701786 . A T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=76/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.10681T>A;CSQ_HGVSp=NP_008835.5:p.Leu3561Met;CSQ_HGVSg=8:g.48701786A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=440194;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency¬_specified¬_provided;CSQ_gnomADg_AC=100;CSQ_gnomADg_AN=30684;CSQ_gnomADg_AF=0.00325903;CSQ_gnomADe_AC=1644;CSQ_gnomADe_AN=225254;CSQ_gnomADe_AF=0.00729843;CSQ_gnomADe_Hom=38;CSQ_COSMICcMuts=COSV58060395&COSV58060395;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.104;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,25:133:0.18797:65:-100:0.1474:5,6,3,3,3,5,25,49,12,17,10,20:100:100 +8 48710880 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=74/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.10373A>G;CSQ_HGVSp=NP_001075109.1:p.Asn3458Ser;CSQ_HGVSg=8:g.48710880T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=376992;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency¬_specified¬_provided;CSQ_gnomADg_AC=312;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0100736;CSQ_gnomADe_AC=609;CSQ_gnomADe_AN=245162;CSQ_gnomADe_AF=0.00248407;CSQ_gnomADe_Hom=12;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.064 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,12:156:0.07692:65:-100:0.1568:4,3,0,2,1,2,24,56,15,25,12,24:100:100 +8 48710880 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=74/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.10373A>G;CSQ_HGVSp=NP_008835.5:p.Asn3458Ser;CSQ_HGVSg=8:g.48710880T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=376992;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency¬_specified¬_provided;CSQ_gnomADg_AC=312;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0100736;CSQ_gnomADe_AC=609;CSQ_gnomADe_AN=245162;CSQ_gnomADe_AF=0.00248407;CSQ_gnomADe_Hom=12;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.064 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,12:156:0.07692:65:-100:0.1568:4,3,0,2,1,2,24,56,15,25,12,24:100:100 +8 48739325 . A C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=64/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.8672T>G;CSQ_HGVSp=NP_001075109.1:p.Leu2891Arg;CSQ_HGVSg=8:g.48739325A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58044651&COSV58044651;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.643;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1398:2,8,1,1,1,4,25,65,14,28,7,21:100:100 +8 48739325 . A C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=64/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.8672T>G;CSQ_HGVSp=NP_008835.5:p.Leu2891Arg;CSQ_HGVSg=8:g.48739325A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58044651&COSV58044651;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.643;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1398:2,8,1,1,1,4,25,65,14,28,7,21:100:100 +8 48769731 . A G 100 PASS DP=163;CSQ_Allele=G;CSQ_SYMBOL=PRKDC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=50/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.6592T>C;CSQ_HGVSp=NP_001075109.1:p.Leu2198%3D;CSQ_HGVSg=8:g.48769731A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1754382;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inborn_genetic_diseases;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,19:163:0.11656:65:-100:0.1283:4,4,2,6,0,3,22,67,17,26,7,24:100:100 +8 48769731 . A G 100 PASS DP=163;CSQ_Allele=G;CSQ_SYMBOL=PRKDC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=50/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.6592T>C;CSQ_HGVSp=NP_008835.5:p.Leu2198%3D;CSQ_HGVSg=8:g.48769731A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1754382;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inborn_genetic_diseases;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,19:163:0.11656:65:-100:0.1283:4,4,2,6,0,3,22,67,17,26,7,24:100:100 +8 48792199 . A C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=PRKDC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=40/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.5085T>G;CSQ_HGVSp=NP_001075109.1:p.Leu1695%3D;CSQ_HGVSg=8:g.48792199A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=379439;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency¬_specified;CSQ_gnomADg_AC=340;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0109819;CSQ_gnomADe_AC=584;CSQ_gnomADe_AN=205882;CSQ_gnomADe_AF=0.00283658;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=COSV104628858&COSV104628858;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.02 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,22:139:0.15827:65:-100:0.1313:3,8,1,5,2,3,26,48,10,23,10,22:100:100 +8 48792199 . A C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=PRKDC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=40/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.5085T>G;CSQ_HGVSp=NP_008835.5:p.Leu1695%3D;CSQ_HGVSg=8:g.48792199A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=379439;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency¬_specified;CSQ_gnomADg_AC=340;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0109819;CSQ_gnomADe_AC=584;CSQ_gnomADe_AN=205882;CSQ_gnomADe_AF=0.00283658;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=COSV104628858&COSV104628858;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.02 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,22:139:0.15827:65:-100:0.1313:3,8,1,5,2,3,26,48,10,23,10,22:100:100 +8 48798574 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=PRKDC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=37/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.4704G>A;CSQ_HGVSp=NP_001075109.1:p.Thr1568%3D;CSQ_HGVSg=8:g.48798574C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1596896;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=9.68429e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=245592;CSQ_gnomADe_AF=2.44308e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58044682&COSV58044682;CSQ_COSMICncMuts=COSV58044682;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.278 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,16:175:0.09143:65:-100:0.125:2,6,0,3,1,4,25,64,10,23,24,29:100:100 +8 48798574 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=PRKDC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=37/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.4704G>A;CSQ_HGVSp=NP_008835.5:p.Thr1568%3D;CSQ_HGVSg=8:g.48798574C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1596896;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=9.68429e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=245592;CSQ_gnomADe_AF=2.44308e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58044682&COSV58044682;CSQ_COSMICncMuts=COSV58044682;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.278 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,16:175:0.09143:65:-100:0.125:2,6,0,3,1,4,25,64,10,23,24,29:100:100 +8 48824985 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=PRKDC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.2919G>A;CSQ_HGVSp=NP_001075109.1:p.Ala973%3D;CSQ_HGVSg=8:g.48824985C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1543506;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency&Inborn_genetic_diseases;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=9.68492e-05;CSQ_gnomADe_AC=28;CSQ_gnomADe_AN=229660;CSQ_gnomADe_AF=0.000121919;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58044701&COSV58044701;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.904 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,28:161:0.17391:65:-100:0.1297:6,4,2,6,3,7,32,49,14,18,15,33:100:100 +8 48824985 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=PRKDC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.2919G>A;CSQ_HGVSp=NP_008835.5:p.Ala973%3D;CSQ_HGVSg=8:g.48824985C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1543506;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency&Inborn_genetic_diseases;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=9.68492e-05;CSQ_gnomADe_AC=28;CSQ_gnomADe_AN=229660;CSQ_gnomADe_AF=0.000121919;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58044701&COSV58044701;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.904 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,28:161:0.17391:65:-100:0.1297:6,4,2,6,3,7,32,49,14,18,15,33:100:100 +8 48843310 . G C 100 PASS DP=166;CSQ_Allele=C;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.1814C>G;CSQ_HGVSp=NP_001075109.1:p.Thr605Ser;CSQ_HGVSg=8:g.48843310G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=475221;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency¬_specified;CSQ_gnomADg_AC=690;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0222782;CSQ_gnomADe_AC=1286;CSQ_gnomADe_AN=208562;CSQ_gnomADe_AF=0.00616603;CSQ_gnomADe_Hom=47;CSQ_COSMICcMuts=COSV104628435&COSV104628435;CSQ_COSMICncMuts=COSV104628435;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.06;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=0.179;CSQ_Mastermind_MMID3=PRKDC:T605S;CSQ_CADD_PHRED=23.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,13:166:0.07831:65:-100:0.1309:1,7,0,1,0,4,26,57,14,18,25,26:100:100 +8 48843310 . G C 100 PASS DP=166;CSQ_Allele=C;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.1814C>G;CSQ_HGVSp=NP_008835.5:p.Thr605Ser;CSQ_HGVSg=8:g.48843310G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=475221;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency¬_specified;CSQ_gnomADg_AC=690;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0222782;CSQ_gnomADe_AC=1286;CSQ_gnomADe_AN=208562;CSQ_gnomADe_AF=0.00616603;CSQ_gnomADe_Hom=47;CSQ_COSMICcMuts=COSV104628435&COSV104628435;CSQ_COSMICncMuts=COSV104628435;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.06;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=0.179;CSQ_Mastermind_MMID3=PRKDC:T605S;CSQ_CADD_PHRED=23.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,13:166:0.07831:65:-100:0.1309:1,7,0,1,0,4,26,57,14,18,25,26:100:100 +8 48846543 . CAGG C 100 PASS DP=139;CSQ_Allele=-;CSQ_SYMBOL=PRKDC;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=15/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.1602_1604del;CSQ_HGVSp=NP_001075109.1:p.Leu535del;CSQ_HGVSg=8:g.48846546_48846548del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246146;CSQ_gnomADe_AF=4.06263e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58044727&COSV58044727;CSQ_COSMICncMuts=COSV58044727&COSV58044727;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRKDC:L535del;CSQ_CADD_PHRED=22.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,9:139:0.06475:65:-100:0:0,5,2,0,1,1,23,42,13,17,19,26:100:100 +8 48846543 . CAGG C 100 PASS DP=139;CSQ_Allele=-;CSQ_SYMBOL=PRKDC;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=15/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.1602_1604del;CSQ_HGVSp=NP_008835.5:p.Leu535del;CSQ_HGVSg=8:g.48846546_48846548del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246146;CSQ_gnomADe_AF=4.06263e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58044727&COSV58044727;CSQ_COSMICncMuts=COSV58044727&COSV58044727;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PRKDC:L535del;CSQ_CADD_PHRED=22.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,9:139:0.06475:65:-100:0:0,5,2,0,1,1,23,42,13,17,19,26:100:100 +8 48869922 . C T 100 PASS DP=187;CSQ_Allele=T;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/86;CSQ_INTRON=.;CSQ_Feature=NM_001081640.2;CSQ_HGVSc=NM_001081640.2:c.224G>A;CSQ_HGVSp=NP_001075109.1:p.Ser75Asn;CSQ_HGVSg=8:g.48869922C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1788401;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inborn_genetic_diseases;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50634244&COSV50634244;CSQ_COSMICncMuts=COSV50634244&COSV50634244&COSV50634244&COSV50634244&COSV50634244&COSV50634244&COSV50634244&COSV50634244;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.114;CSQ_Mastermind_MMID3=PRKDC:S75N;CSQ_CADD_PHRED=13.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,8:187:0.04278:65:-93.5478:0.1343:2,2,1,0,0,3,37,62,14,33,12,29:78.63:100 +8 48869922 . C T 100 PASS DP=187;CSQ_Allele=T;CSQ_SYMBOL=PRKDC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/87;CSQ_INTRON=.;CSQ_Feature=NM_006904.7;CSQ_HGVSc=NM_006904.7:c.224G>A;CSQ_HGVSp=NP_008835.5:p.Ser75Asn;CSQ_HGVSg=8:g.48869922C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1788401;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Inborn_genetic_diseases;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50634244&COSV50634244;CSQ_COSMICncMuts=COSV50634244&COSV50634244&COSV50634244&COSV50634244&COSV50634244&COSV50634244&COSV50634244&COSV50634244;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.114;CSQ_Mastermind_MMID3=PRKDC:S75N;CSQ_CADD_PHRED=13.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,8:187:0.04278:65:-93.5478:0.1343:2,2,1,0,0,3,37,62,14,33,12,29:78.63:100 +8 55370823 . T A 100 PASS DP=90;CSQ_Allele=A;CSQ_SYMBOL=SOX17;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_022454.4;CSQ_HGVSc=NM_022454.4:c.125T>A;CSQ_HGVSp=NP_071899.1:p.Met42Lys;CSQ_HGVSg=8:g.55370823T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52027149;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.238;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,9:90:0.1:65:-100:0.1509:2,5,1,0,0,1,29,23,11,7,10,10:100:100 +8 56866452 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=LYN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/13;CSQ_INTRON=.;CSQ_Feature=NM_001111097.3;CSQ_HGVSc=NM_001111097.3:c.636G>A;CSQ_HGVSp=NP_001104567.1:p.Lys212%3D;CSQ_HGVSg=8:g.56866452G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1168285;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4159;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.134491;CSQ_gnomADe_AC=13069;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=0.053082;CSQ_gnomADe_Hom=1438;CSQ_COSMICcMuts=COSV70205757&COSV70205757;CSQ_COSMICncMuts=COSV70205757&COSV70205757;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LYN:K212K&LYN:K233K;CSQ_CADD_PHRED=12.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,80:183:0.43716:65:-100:0.1029:10,33,7,9,5,16,31,67,19,25,12,29:100:100 +8 56866452 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=LYN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/13;CSQ_INTRON=.;CSQ_Feature=NM_002350.4;CSQ_HGVSc=NM_002350.4:c.699G>A;CSQ_HGVSp=NP_002341.1:p.Lys233%3D;CSQ_HGVSg=8:g.56866452G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1168285;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4159;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.134491;CSQ_gnomADe_AC=13069;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=0.053082;CSQ_gnomADe_Hom=1438;CSQ_COSMICcMuts=COSV70205757&COSV70205757;CSQ_COSMICncMuts=COSV70205757&COSV70205757;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LYN:K212K&LYN:K233K;CSQ_CADD_PHRED=12.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,80:183:0.43716:65:-100:0.1029:10,33,7,9,5,16,31,67,19,25,12,29:100:100 +8 56910928 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=LYN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/13;CSQ_INTRON=.;CSQ_Feature=NM_001111097.3;CSQ_HGVSc=NM_001111097.3:c.1011C>T;CSQ_HGVSp=NP_001104567.1:p.Ile337%3D;CSQ_HGVSg=8:g.56910928C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=783841;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=919;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.029745;CSQ_gnomADe_AC=1810;CSQ_gnomADe_AN=246086;CSQ_gnomADe_AF=0.00735515;CSQ_gnomADe_Hom=82;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LYN:I337I&LYN:I358I;CSQ_CADD_PHRED=9.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,13:146:0.08904:65:-100:0.1561:1,8,0,2,1,1,25,56,7,22,11,25:100:100 +8 56910928 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=LYN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/13;CSQ_INTRON=.;CSQ_Feature=NM_002350.4;CSQ_HGVSc=NM_002350.4:c.1074C>T;CSQ_HGVSp=NP_002341.1:p.Ile358%3D;CSQ_HGVSg=8:g.56910928C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=783841;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=919;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.029745;CSQ_gnomADe_AC=1810;CSQ_gnomADe_AN=246086;CSQ_gnomADe_AF=0.00735515;CSQ_gnomADe_Hom=82;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LYN:I337I&LYN:I358I;CSQ_CADD_PHRED=9.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,13:146:0.08904:65:-100:0.1561:1,8,0,2,1,1,25,56,7,22,11,25:100:100 +8 68864728 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.99G>A;CSQ_HGVSp=NP_079146.2:p.Lys33%3D;CSQ_HGVSg=8:g.68864728G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7668;CSQ_gnomADg_AN=30774;CSQ_gnomADg_AF=0.249171;CSQ_gnomADe_AC=72140;CSQ_gnomADe_AN=230364;CSQ_gnomADe_AF=0.313157;CSQ_gnomADe_Hom=12174;CSQ_COSMICcMuts=COSV55767087;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,41:119:0.34454:65:-100:0.15:5,10,7,9,7,3,26,23,20,18,20,12:100:100 +8 68864728 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/24;CSQ_INTRON=.;CSQ_Feature=NM_025170.6;CSQ_HGVSc=NM_025170.6:c.99G>A;CSQ_HGVSp=NP_079446.3:p.Lys33%3D;CSQ_HGVSg=8:g.68864728G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7668;CSQ_gnomADg_AN=30774;CSQ_gnomADg_AF=0.249171;CSQ_gnomADe_AC=72140;CSQ_gnomADe_AN=230364;CSQ_gnomADe_AF=0.313157;CSQ_gnomADe_Hom=12174;CSQ_COSMICcMuts=COSV55767087;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,41:119:0.34454:65:-100:0.15:5,10,7,9,7,3,26,23,20,18,20,12:100:100 +8 68965475 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=PREX2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.1087C>T;CSQ_HGVSp=NP_079146.2:p.Arg363Trp;CSQ_HGVSg=8:g.68965475C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=6.46789e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245584;CSQ_gnomADe_AF=4.07193e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55749244;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.289;CSQ_Mastermind_MMID3=PREX2:R363W;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,8:118:0.0678:65:-100:0.1511:0,4,0,1,0,3,18,44,11,11,12,22:72.977:100 +8 68965475 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=PREX2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/24;CSQ_INTRON=.;CSQ_Feature=NM_025170.6;CSQ_HGVSc=NM_025170.6:c.1087C>T;CSQ_HGVSp=NP_079446.3:p.Arg363Trp;CSQ_HGVSg=8:g.68965475C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=6.46789e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245584;CSQ_gnomADe_AF=4.07193e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55749244;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.289;CSQ_Mastermind_MMID3=PREX2:R363W;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,8:118:0.0678:65:-100:0.1511:0,4,0,1,0,3,18,44,11,11,12,22:72.977:100 +8 68968166 . C A 100 PASS DP=184;CSQ_Allele=A;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.1195C>A;CSQ_HGVSp=NP_079146.2:p.Arg399%3D;CSQ_HGVSg=8:g.68968166C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274701;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=18239;CSQ_gnomADg_AN=30704;CSQ_gnomADg_AF=0.594027;CSQ_gnomADe_AC=121773;CSQ_gnomADe_AN=244402;CSQ_gnomADe_AF=0.498249;CSQ_gnomADe_Hom=32245;CSQ_COSMICcMuts=COSV55751403;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.25;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:R399R;CSQ_CADD_PHRED=14.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,73:184:0.39674:65:-100:0.1068:10,20,9,16,9,9,31,58,21,33,17,24:100:100 +8 68968166 . C A 100 PASS DP=184;CSQ_Allele=A;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_025170.6;CSQ_HGVSc=NM_025170.6:c.1195C>A;CSQ_HGVSp=NP_079446.3:p.Arg399%3D;CSQ_HGVSg=8:g.68968166C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274701;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=18239;CSQ_gnomADg_AN=30704;CSQ_gnomADg_AF=0.594027;CSQ_gnomADe_AC=121773;CSQ_gnomADe_AN=244402;CSQ_gnomADe_AF=0.498249;CSQ_gnomADe_Hom=32245;CSQ_COSMICcMuts=COSV55751403;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.25;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:R399R;CSQ_CADD_PHRED=14.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,73:184:0.39674:65:-100:0.1068:10,20,9,16,9,9,31,58,21,33,17,24:100:100 +8 68968171 . G A 100 PASS DP=193;CSQ_Allele=A;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.1200G>A;CSQ_HGVSp=NP_079146.2:p.Lys400%3D;CSQ_HGVSg=8:g.68968171G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1253695;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=18232;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.593374;CSQ_gnomADe_AC=121979;CSQ_gnomADe_AN=244622;CSQ_gnomADe_AF=0.498643;CSQ_gnomADe_Hom=32345;CSQ_COSMICcMuts=COSV55751423;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.05;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:K400K;CSQ_CADD_PHRED=12.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,72:193:0.37306:65:-100:0.1106:11,22,6,17,9,7,32,63,22,35,15,26:100:100 +8 68968171 . G A 100 PASS DP=193;CSQ_Allele=A;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_025170.6;CSQ_HGVSc=NM_025170.6:c.1200G>A;CSQ_HGVSp=NP_079446.3:p.Lys400%3D;CSQ_HGVSg=8:g.68968171G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1253695;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=18232;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.593374;CSQ_gnomADe_AC=121979;CSQ_gnomADe_AN=244622;CSQ_gnomADe_AF=0.498643;CSQ_gnomADe_Hom=32345;CSQ_COSMICcMuts=COSV55751423;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.05;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:K400K;CSQ_CADD_PHRED=12.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,72:193:0.37306:65:-100:0.1106:11,22,6,17,9,7,32,63,22,35,15,26:100:100 +8 68992720 . GT G 100 PASS DP=148;CSQ_Allele=-;CSQ_SYMBOL=PREX2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=16/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.1693del;CSQ_HGVSp=NP_079146.2:p.Ser565ArgfsTer10;CSQ_HGVSg=8:g.68992728del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55753597;CSQ_COSMICncMuts=COSV55753597;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,34:148:0.22973:65:-100:0:4,11,3,5,7,4,31,49,14,21,13,20:100:100 +8 68992720 . GT G 100 PASS DP=148;CSQ_Allele=-;CSQ_SYMBOL=PREX2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=16/24;CSQ_INTRON=.;CSQ_Feature=NM_025170.6;CSQ_HGVSc=NM_025170.6:c.1693del;CSQ_HGVSp=NP_079446.3:p.Ser565ArgfsTer10;CSQ_HGVSg=8:g.68992728del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55753597;CSQ_COSMICncMuts=COSV55753597;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,34:148:0.22973:65:-100:0:4,11,3,5,7,4,31,49,14,21,13,20:100:100 +8 68993013 . AT GC 100 PASS DP=145;CSQ_Allele=GC;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.1818_1819delinsGC;CSQ_HGVSp=NP_079146.2:p.GlyLeu606%3D;CSQ_HGVSg=8:g.68993013_68993014delinsGC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105855593;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:G606G;CSQ_CADD_PHRED=9.842 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,48:145:0.33103:65:-100:0:10,16,4,5,5,8,60,96,24,42,30,38:100:100 +8 68993013 . AT GC 100 PASS DP=145;CSQ_Allele=GC;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/24;CSQ_INTRON=.;CSQ_Feature=NM_025170.6;CSQ_HGVSc=NM_025170.6:c.1818_1819delinsGC;CSQ_HGVSp=NP_079446.3:p.GlyLeu606%3D;CSQ_HGVSg=8:g.68993013_68993014delinsGC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105855593;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:G606G;CSQ_CADD_PHRED=9.842 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,48:145:0.33103:65:-100:0:10,16,4,5,5,8,60,96,24,42,30,38:100:100 +8 69009268 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.2385C>T;CSQ_HGVSp=NP_079146.2:p.Phe795%3D;CSQ_HGVSg=8:g.69009268C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1288091;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8307;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.268783;CSQ_gnomADe_AC=63645;CSQ_gnomADe_AN=245266;CSQ_gnomADe_AF=0.259494;CSQ_gnomADe_Hom=8479;CSQ_COSMICcMuts=COSV55768127;CSQ_COSMICncMuts=COSV55768127;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:F795F;CSQ_CADD_PHRED=12.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,44:147:0.29932:65:-100:0.1648:12,13,2,7,3,7,31,49,4,31,10,22:100:100 +8 69009268 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/24;CSQ_INTRON=.;CSQ_Feature=NM_025170.6;CSQ_HGVSc=NM_025170.6:c.2385C>T;CSQ_HGVSp=NP_079446.3:p.Phe795%3D;CSQ_HGVSg=8:g.69009268C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1288091;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8307;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.268783;CSQ_gnomADe_AC=63645;CSQ_gnomADe_AN=245266;CSQ_gnomADe_AF=0.259494;CSQ_gnomADe_Hom=8479;CSQ_COSMICcMuts=COSV55768127;CSQ_COSMICncMuts=COSV55768127;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:F795F;CSQ_CADD_PHRED=12.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,44:147:0.29932:65:-100:0.1648:12,13,2,7,3,7,31,49,4,31,10,22:100:100 +8 69020496 . T C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.2868T>C;CSQ_HGVSp=NP_079146.2:p.Ser956%3D;CSQ_HGVSg=8:g.69020496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14103;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.455965;CSQ_gnomADe_AC=109585;CSQ_gnomADe_AN=245904;CSQ_gnomADe_AF=0.445641;CSQ_gnomADe_Hom=24786;CSQ_COSMICcMuts=COSV55748962;CSQ_COSMICncMuts=COSV55748962;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:S956S;CSQ_CADD_PHRED=9.635 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,103:181:0.56906:65:-100:0.0905:20,34,5,17,10,17,30,65,9,39,14,24:100:100 +8 69020496 . T C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=PREX2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_025170.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=8:g.69020496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14103;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.455965;CSQ_gnomADe_AC=109585;CSQ_gnomADe_AN=245904;CSQ_gnomADe_AF=0.445641;CSQ_gnomADe_Hom=24786;CSQ_COSMICcMuts=COSV55748962;CSQ_COSMICncMuts=COSV55748962;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.635 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,103:181:0.56906:65:-100:0.0905:20,34,5,17,10,17,30,65,9,39,14,24:100:100 +8 69046392 . A G 100 PASS DP=163;CSQ_Allele=G;CSQ_SYMBOL=PREX2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=32/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.3865A>G;CSQ_HGVSp=NP_079146.2:p.Met1289Val;CSQ_HGVSg=8:g.69046392A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.000225996;CSQ_gnomADe_AC=79;CSQ_gnomADe_AN=245782;CSQ_gnomADe_AF=0.000321423;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.051;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.77 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,25:163:0.15337:65:-100:0.1044:4,11,0,5,2,3,23,58,9,29,10,34:100:100 +8 69046409 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=32/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.3882G>A;CSQ_HGVSp=NP_079146.2:p.Lys1294%3D;CSQ_HGVSg=8:g.69046409G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274446;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3335;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.107775;CSQ_gnomADe_AC=34418;CSQ_gnomADe_AN=245752;CSQ_gnomADe_AF=0.140052;CSQ_gnomADe_Hom=2691;CSQ_COSMICcMuts=COSV55772588;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:K1294K;CSQ_CADD_PHRED=9.341 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,14:151:0.09272:65:-100:0.1221:2,6,0,3,2,1,17,58,8,29,9,30:100:100 +8 69104619 . C T 100 PASS DP=179;CSQ_Allele=T;CSQ_SYMBOL=PREX2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=37/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.4463C>T;CSQ_HGVSp=NP_079146.2:p.Ser1488Leu;CSQ_HGVSg=8:g.69104619C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=571;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0184384;CSQ_gnomADe_AC=5273;CSQ_gnomADe_AN=244858;CSQ_gnomADe_AF=0.0215349;CSQ_gnomADe_Hom=304;CSQ_COSMICcMuts=COSV55803161;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.195;CSQ_Mastermind_MMID3=PREX2:S1488L;CSQ_CADD_PHRED=28.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,15:179:0.0838:65:-100:0.1476:2,6,0,5,1,1,30,68,14,27,10,30:100:100 +8 69143589 . A G 100 PASS DP=139;CSQ_Allele=G;CSQ_SYMBOL=PREX2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=40/40;CSQ_INTRON=.;CSQ_Feature=NM_024870.4;CSQ_HGVSc=NM_024870.4:c.4797A>G;CSQ_HGVSp=NP_079146.2:p.Pro1599%3D;CSQ_HGVSg=8:g.69143589A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7954;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.257494;CSQ_gnomADe_AC=73107;CSQ_gnomADe_AN=228908;CSQ_gnomADe_AF=0.319373;CSQ_gnomADe_Hom=12775;CSQ_COSMICcMuts=COSV99905346;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PREX2:P1599P;CSQ_CADD_PHRED=7.154 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,15:139:0.10791:65:-100:0.1871:4,7,0,1,2,1,18,51,10,23,16,21:100:100 +8 90958422 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=NBN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/16;CSQ_INTRON=.;CSQ_Feature=NM_002485.5;CSQ_HGVSc=NM_002485.5:c.2016A>G;CSQ_HGVSp=NP_002476.2:p.Pro672%3D;CSQ_HGVSg=8:g.90958422T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183696;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Microcephaly&_normal_intelligence_and_immunodeficiency&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=9632;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.3122;CSQ_gnomADe_AC=85274;CSQ_gnomADe_AN=245746;CSQ_gnomADe_AF=0.347001;CSQ_gnomADe_Hom=15147;CSQ_COSMICcMuts=COSV55371426&COSV55371426;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NBN:P590P&NBN:P672P;CSQ_CADD_PHRED=0.625 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,66:150:0.44:65:-100:0.1329:7,19,3,14,7,16,19,50,18,23,14,26:100:100 +8 90967711 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=NBN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/16;CSQ_INTRON=.;CSQ_Feature=NM_002485.5;CSQ_HGVSc=NM_002485.5:c.1197T>C;CSQ_HGVSp=NP_002476.2:p.Asp399%3D;CSQ_HGVSg=8:g.90967711A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183701;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Microcephaly&_normal_intelligence_and_immunodeficiency&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=15846;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.513913;CSQ_gnomADe_AC=114033;CSQ_gnomADe_AN=245780;CSQ_gnomADe_AF=0.463964;CSQ_gnomADe_Hom=28426;CSQ_COSMICcMuts=COSV55371961&COSV55371961;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NBN:D317D&NBN:D399D;CSQ_CADD_PHRED=0.421 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,98:145:0.67586:65:-100:0.1049:18,27,18,17,5,13,22,45,24,24,7,23:100:100 +8 90990479 . C G 100 PASS DP=177;CSQ_Allele=G;CSQ_SYMBOL=NBN;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/16;CSQ_INTRON=.;CSQ_Feature=NM_002485.5;CSQ_HGVSc=NM_002485.5:c.553G>C;CSQ_HGVSp=NP_002476.2:p.Glu185Gln;CSQ_HGVSg=8:g.90990479C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134876;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Microcephaly&_normal_intelligence_and_immunodeficiency&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=9708;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.314276;CSQ_gnomADe_AC=85421;CSQ_gnomADe_AN=246004;CSQ_gnomADe_AF=0.347234;CSQ_gnomADe_Hom=15174;CSQ_COSMICcMuts=COSV55371261&COSV55371261;CSQ_COSMICncMuts=COSV55371261&COSV55371261&COSV55371261;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=0.103;CSQ_Mastermind_MMID3=NBN:E103Q&NBN:E185Q;CSQ_CADD_PHRED=14.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,53:177:0.29944:65:-100:0.1366:10,15,3,6,5,14,30,55,14,25,26,27:100:100 +8 90993061 . A G 100 PASS DP=182;CSQ_Allele=G;CSQ_SYMBOL=NBN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/16;CSQ_INTRON=.;CSQ_Feature=NM_002485.5;CSQ_HGVSc=NM_002485.5:c.381T>C;CSQ_HGVSp=NP_002476.2:p.Ala127%3D;CSQ_HGVSg=8:g.90993061A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=132744;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(10)&Likely_benign(4);CSQ_ClinVar_CLNDN=Aplastic_anemia&Acute_lymphoid_leukemia&Microcephaly&_normal_intelligence_and_immunodeficiency&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=76;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00245557;CSQ_gnomADe_AC=782;CSQ_gnomADe_AN=245960;CSQ_gnomADe_AF=0.00317938;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=COSV104545489&COSV104545489;CSQ_COSMICncMuts=COSV104545489;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NBN:A127A&NBN:A45A;CSQ_CADD_PHRED=13.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,6:182:0.03297:65:-93.0977:0.125:2,0,1,1,0,2,37,58,13,28,11,35:76.905:100 +8 90995019 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=NBN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/16;CSQ_INTRON=.;CSQ_Feature=NM_002485.5;CSQ_HGVSc=NM_002485.5:c.102G>A;CSQ_HGVSp=NP_002476.2:p.Leu34%3D;CSQ_HGVSg=8:g.90995019C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183697;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Microcephaly&_normal_intelligence_and_immunodeficiency&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10341;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.33492;CSQ_gnomADe_AC=87055;CSQ_gnomADe_AN=246182;CSQ_gnomADe_AF=0.35362;CSQ_gnomADe_Hom=15636;CSQ_COSMICcMuts=COSV55371979&COSV55371979;CSQ_COSMICncMuts=COSV55371979;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NBN:5UTR&NBN:L34L;CSQ_CADD_PHRED=12.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,76:162:0.46914:65:-100:0.1148:10,26,3,15,8,14,23,52,9,33,15,30:100:100 +8 93017471 . G GT 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=RUNX1T1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_001198628.2;CSQ_HGVSc=NM_001198628.2:c.612dup;CSQ_HGVSp=NP_001185557.1:p.Gln205ThrfsTer11;CSQ_HGVSg=8:g.93017474dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544;CSQ_COSMICncMuts=COSV56136544&COSV56136544&COSV56136544;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1T1:Q264fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,16:175:0.09143:65:-100:0:1,5,1,5,1,3,29,64,12,30,14,27:100:100 +8 93017471 . G GT 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=RUNX1T1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001198633.2;CSQ_HGVSc=NM_001198633.2:c.552dup;CSQ_HGVSp=NP_001185562.1:p.Gln185ThrfsTer11;CSQ_HGVSg=8:g.93017474dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544;CSQ_COSMICncMuts=COSV56136544&COSV56136544&COSV56136544;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1T1:Q264fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,16:175:0.09143:65:-100:0:1,5,1,5,1,3,29,64,12,30,14,27:100:100 +8 93017471 . G GT 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=RUNX1T1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001198634.2;CSQ_HGVSc=NM_001198634.2:c.645dup;CSQ_HGVSp=NP_001185563.1:p.Gln216ThrfsTer11;CSQ_HGVSg=8:g.93017474dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544;CSQ_COSMICncMuts=COSV56136544&COSV56136544&COSV56136544;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1T1:Q264fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,16:175:0.09143:65:-100:0:1,5,1,5,1,3,29,64,12,30,14,27:100:100 +8 93017471 . G GT 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=RUNX1T1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_001198679.2;CSQ_HGVSc=NM_001198679.2:c.789dup;CSQ_HGVSp=NP_001185608.1:p.Gln264ThrfsTer11;CSQ_HGVSg=8:g.93017474dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544;CSQ_COSMICncMuts=COSV56136544&COSV56136544&COSV56136544;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1T1:Q264fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,16:175:0.09143:65:-100:0:1,5,1,5,1,3,29,64,12,30,14,27:100:100 +8 93017471 . G GT 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=RUNX1T1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_004349.4;CSQ_HGVSc=NM_004349.4:c.531dup;CSQ_HGVSp=NP_004340.1:p.Gln178ThrfsTer11;CSQ_HGVSg=8:g.93017474dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544;CSQ_COSMICncMuts=COSV56136544&COSV56136544&COSV56136544;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1T1:Q264fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,16:175:0.09143:65:-100:0:1,5,1,5,1,3,29,64,12,30,14,27:100:100 +8 93017471 . G GT 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=RUNX1T1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_175636.2;CSQ_HGVSc=NM_175636.2:c.501dup;CSQ_HGVSp=NP_783554.1:p.Gln168ThrfsTer11;CSQ_HGVSg=8:g.93017474dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544&COSV56136544;CSQ_COSMICncMuts=COSV56136544&COSV56136544&COSV56136544;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1T1:Q264fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,16:175:0.09143:65:-100:0:1,5,1,5,1,3,29,64,12,30,14,27:100:100 +8 117864217 . A G 100 PASS DP=190;CSQ_Allele=G;CSQ_SYMBOL=RAD21;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/14;CSQ_INTRON=.;CSQ_Feature=NM_006265.3;CSQ_HGVSc=NM_006265.3:c.1440T>C;CSQ_HGVSp=NP_006256.1:p.Ala480%3D;CSQ_HGVSg=8:g.117864217A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=159805;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Mungan_syndrome&Cornelia_de_Lange_syndrome_4&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=4244;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.137151;CSQ_gnomADe_AC=43756;CSQ_gnomADe_AN=245806;CSQ_gnomADe_AF=0.17801;CSQ_gnomADe_Hom=4267;CSQ_COSMICcMuts=COSV52055885&COSV52055885&COSV52055885;CSQ_COSMICncMuts=COSV52055885&COSV52055885&COSV52055885&COSV52055885&COSV52055885;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAD21:A480A;CSQ_CADD_PHRED=3.174 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,11:190:0.05789:65:-100:0.1244:1,6,1,1,2,0,35,66,24,25,11,29:100:100 +8 128743713 . G A 100 PASS DP=646;CSQ_Allele=A;CSQ_SYMBOL=MYC;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002467.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128743713G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:634,12:646:0.01858:65:-100:0.1589:1,5,1,1,1,3,105,227,57,96,51,110:92.595:100 +8 128743929 . T G 100 PASS DP=633;CSQ_Allele=G;CSQ_SYMBOL=MYC;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002467.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128743929T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3284;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.106196;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=COSV104583424&COSV104583424&COSV104583424&COSV104583424&COSV104583424;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.314 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:604,29:633:0.04581:65:-100:0.1469:6,11,1,9,0,2,94,204,48,121,64,102:100:100 +8 128749023 . G T 100 PASS DP=429;CSQ_Allele=T;CSQ_SYMBOL=MYC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.30+154G>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128749023G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2100;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0678952;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52368222&COSV52368222&COSV52368222;CSQ_COSMICncMuts=COSV52368222&COSV52368222&COSV52368222;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYC:Q10int&MYC:Q10intd;CSQ_CADD_PHRED=0.449 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:398,31:429:0.07226:65:-100:0.3691:5,2,5,7,3,9,62,147,39,74,28,79:100:100 +8 128750007 . C T 100 PASS DP=91;CSQ_Allele=T;CSQ_SYMBOL=MYC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.31-487C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128750007C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,6:91:0.06593:65:-100:0.6286:2,2,1,1,0,0,18,14,21,8,22,8:68.543:100 +8 128750139 . T A 100 PASS DP=379;CSQ_Allele=A;CSQ_SYMBOL=MYC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.31-355T>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128750139T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9132;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.296109;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52379704&COSV52379704&COSV52379704;CSQ_COSMICncMuts=COSV52379704&COSV52379704&COSV52379704;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYC:Q10int&MYC:Q10inta;CSQ_CADD_PHRED=12.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:304,75:379:0.19789:65:-100:0.1919:19,22,3,14,5,12,85,113,42,50,40,49:100:100 +8 128750212 . C T 100 PASS DP=369;CSQ_Allele=T;CSQ_SYMBOL=MYC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.31-282C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128750212C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5098;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.164866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYC:Q10int&MYC:Q10inta;CSQ_CADD_PHRED=2.264 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:344,25:369:0.06775:65:-100:0.2392:3,9,0,6,4,3,49,121,41,59,39,60:100:100 +8 128750260 . C T 100 PASS DP=363;CSQ_Allele=T;CSQ_SYMBOL=MYC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.31-234C>T;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128750260C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1806;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.0585224;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104583429&COSV104583429&COSV104583429;CSQ_COSMICncMuts=COSV104583429&COSV104583429&COSV104583429;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYC:Q10int&MYC:Q10inta;CSQ_CADD_PHRED=6.169 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:345,18:363:0.04959:65:-100:0.2177:3,7,4,2,0,2,68,108,48,54,37,48:100:100 +8 128751201 . G A 100 PASS DP=634;CSQ_Allele=A;CSQ_SYMBOL=MYC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.738G>A;CSQ_HGVSp=NP_002458.2:p.Pro246%3D;CSQ_HGVSg=8:g.128751201G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1478;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0477822;CSQ_gnomADe_AC=8156;CSQ_gnomADe_AN=218304;CSQ_gnomADe_AF=0.0373607;CSQ_gnomADe_Hom=212;CSQ_COSMICcMuts=COSV52367391&COSV52367391&COSV52367391;CSQ_COSMICncMuts=COSV52367391&COSV52367391&COSV52367391&COSV52367391&COSV52367391;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MYC:P245P&MYC:P246P;CSQ_CADD_PHRED=10.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:604,30:634:0.04732:65:-100:0.1207:2,14,3,4,4,3,101,214,53,98,56,112:100:100 +8 128751214 . G A 100 PASS DP=638;CSQ_Allele=A;CSQ_SYMBOL=MYC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.751G>A;CSQ_HGVSp=NP_002458.2:p.Glu251Lys;CSQ_HGVSg=8:g.128751214G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52380127&COSV52380127&COSV52380127;CSQ_COSMICncMuts=COSV52380127&COSV52380127;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.048;CSQ_Mastermind_MMID3=MYC:E250K&MYC:E251K;CSQ_CADD_PHRED=18.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:628,10:638:0.01567:65:-83.9442:0.126:3,3,0,1,2,1,104,209,49,97,52,127:68.72:100 +8 128752132 . G A 100 PASS DP=533;CSQ_Allele=A;CSQ_SYMBOL=MYC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.803-510G>A;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128752132G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1080;CSQ_gnomADg_AN=30792;CSQ_gnomADg_AF=0.035074;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.747 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:512,21:533:0.0394:65:-100:0.1749:8,5,3,3,2,0,105,173,50,88,47,70:100:100 +8 128752846 . C T 100 PASS DP=730;CSQ_Allele=T;CSQ_SYMBOL=MYC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_002467.6;CSQ_HGVSc=NM_002467.6:c.1007C>T;CSQ_HGVSp=NP_002458.2:p.Ala336Val;CSQ_HGVSg=8:g.128752846C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52368369&COSV52368369;CSQ_COSMICncMuts=COSV52368369&COSV52368369&COSV52368369;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.156;CSQ_Mastermind_MMID3=MYC:A336V;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:713,17:730:0.02329:65:-100:0.1442:3,2,2,3,2,5,116,263,72,133,37,109:100:100 +8 128757577 . T A 100 PASS DP=623;CSQ_Allele=A;CSQ_SYMBOL=MYC;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002467.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128757577T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30666;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.994551;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.371 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,608:623:0.97592:65:-100:0.2043:81,218,56,93,52,108,84,222,57,97,52,111:100:100 +8 128757642 . T A 100 PASS DP=597;CSQ_Allele=A;CSQ_SYMBOL=MYC;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002467.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=8:g.128757642T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2003;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0647717;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.484 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:568,29:597:0.04858:65:-100:0.2267:6,11,2,4,2,4,99,212,50,96,34,106:100:100 +8 145736910 . G A 100 PASS DP=178;CSQ_Allele=A;CSQ_SYMBOL=RECQL4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.3531C>T;CSQ_HGVSp=NP_004251.4:p.Tyr1177%3D;CSQ_HGVSg=8:g.145736910G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=239765;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=98;CSQ_gnomADe_AN=245016;CSQ_gnomADe_AF=0.000399974;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56739313;CSQ_COSMICncMuts=COSV56739313&COSV56739313&COSV56739313&COSV56739313&COSV56739313&COSV56739313&COSV56739313&COSV56739313&COSV56739313&COSV56739313&COSV56739313;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:Y1177Y;CSQ_CADD_PHRED=1.824 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,14:178:0.07865:65:-100:0.1909:4,3,1,1,1,4,26,61,12,31,16,32:100:100 +8 145737636 . A G 100 PASS DP=230;CSQ_Allele=G;CSQ_SYMBOL=RECQL4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.3127T>C;CSQ_HGVSp=NP_004251.4:p.Leu1043%3D;CSQ_HGVSg=8:g.145737636A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=167573;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome&Rapadilino_syndrome&Rothmund-Thomson_syndrome_type_2¬_specified;CSQ_gnomADg_AC=30453;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.983815;CSQ_gnomADe_AC=237845;CSQ_gnomADe_AN=245182;CSQ_gnomADe_AF=0.970075;CSQ_gnomADe_Hom=115853;CSQ_COSMICcMuts=COSV56741332;CSQ_COSMICncMuts=COSV56741332&COSV56741332&COSV56741332&COSV56741332&COSV56741332&COSV56741332&COSV56741332&COSV56741332&COSV56741332&COSV56741332;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:L1043L;CSQ_CADD_PHRED=5.112 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,230:230:1:65:-100:0.0945:32,77,22,42,23,34,32,77,22,42,23,34:100:100 +8 145737816 . C T 100 PASS DP=207;CSQ_Allele=T;CSQ_SYMBOL=RECQL4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.3014G>A;CSQ_HGVSp=NP_004251.4:p.Arg1005Gln;CSQ_HGVSg=8:g.145737816C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=94891;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome&Rapadilino_syndrome&Rothmund-Thomson_syndrome_type_2¬_specified¬_provided;CSQ_gnomADg_AC=11489;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.37174;CSQ_gnomADe_AC=112838;CSQ_gnomADe_AN=241514;CSQ_gnomADe_AF=0.467211;CSQ_gnomADe_Hom=27626;CSQ_COSMICcMuts=COSV56739530;CSQ_COSMICncMuts=COSV56739530&COSV56739530&COSV56739530&COSV56739530&COSV56739530&COSV56739530&COSV56739530&COSV56739530&COSV56739530&COSV56739530&COSV56739530;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:R1005Q;CSQ_CADD_PHRED=16.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,98:207:0.47343:65:-100:0.1339:10,38,8,10,8,24,25,74,17,28,16,47:100:100 +8 145738410 . TGGTGCA T 100 PASS DP=228;CSQ_Allele=-;CSQ_SYMBOL=RECQL4;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=16/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.2569_2574del;CSQ_HGVSp=NP_004251.4:p.Cys857_Thr858del;CSQ_HGVSg=8:g.145738425_145738430del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=135140;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome&Hereditary_cancer-predisposing_syndrome&Rothmund-Thomson_syndrome_type_2¬_specified¬_provided;CSQ_gnomADg_AC=82;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.00265115;CSQ_gnomADe_AC=1352;CSQ_gnomADe_AN=182936;CSQ_gnomADe_AF=0.00739056;CSQ_gnomADe_Hom=30;CSQ_COSMICcMuts=COSV52879881;CSQ_COSMICncMuts=COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881&COSV52879881;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:C857del;CSQ_CADD_PHRED=6.437 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:200,28:228:0.12281:65:-100:0:5,10,2,1,1,9,38,91,16,35,14,33:100:100 +8 145738495 . T C 100 PASS DP=209;CSQ_Allele=C;CSQ_SYMBOL=RECQL4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.2490A>G;CSQ_HGVSp=NP_004251.4:p.Arg830%3D;CSQ_HGVSg=8:g.145738495T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=755668;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52877934;CSQ_COSMICncMuts=COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934&COSV52877934;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.926 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:198,11:209:0.05263:65:-100:0.1434:2,2,2,0,1,4,46,69,15,37,12,30:100:100 +8 145739087 . T A 100 PASS DP=263;CSQ_Allele=A;CSQ_SYMBOL=RECQL4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.2068A>T;CSQ_HGVSp=NP_004251.4:p.Thr690Ser;CSQ_HGVSg=8:g.145739087T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=459372;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52883388;CSQ_COSMICncMuts=COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388&COSV52883388;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.24;CSQ_SpliceAI_pred_DS_AL=0.06;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:T690S;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:255,8:263:0.03042:65:-92.924:0.3601:0,3,2,1,0,2,43,77,30,47,23,43:68.831:100 +8 145739094 . T C 100 PASS DP=246;CSQ_Allele=C;CSQ_SYMBOL=RECQL4;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.2061A>G;CSQ_HGVSp=NP_004251.4:p.Ala687%3D;CSQ_HGVSg=8:g.145739094T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:238,8:246:0.03252:65:-43.4165:0.3896:2,3,1,1,0,1,40,75,28,40,20,43:80.334:100 +8 145741702 . C G 100 PASS DP=206;CSQ_Allele=G;CSQ_SYMBOL=RECQL4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.801G>C;CSQ_HGVSp=NP_004251.4:p.Glu267Asp;CSQ_HGVSg=8:g.145741702C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=94898;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome&Rapadilino_syndrome&Rothmund-Thomson_syndrome_type_2¬_specified¬_provided;CSQ_gnomADg_AC=12928;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.419087;CSQ_gnomADe_AC=104414;CSQ_gnomADe_AN=238690;CSQ_gnomADe_AF=0.437446;CSQ_gnomADe_Hom=23036;CSQ_COSMICcMuts=COSV52877479;CSQ_COSMICncMuts=COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479&COSV52877479;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:E267D;CSQ_CADD_PHRED=1.827 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,94:206:0.45631:65:-100:0.1858:14,27,4,25,6,18,30,71,12,41,15,37:100:100 +8 145741765 . G A 100 PASS DP=211;CSQ_Allele=A;CSQ_SYMBOL=RECQL4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.738C>T;CSQ_HGVSp=NP_004251.4:p.Ser246%3D;CSQ_HGVSg=8:g.145741765G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=94897;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome&Rapadilino_syndrome&Rothmund-Thomson_syndrome_type_2¬_specified¬_provided;CSQ_gnomADg_AC=11368;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.368326;CSQ_gnomADe_AC=106867;CSQ_gnomADe_AN=240696;CSQ_gnomADe_AF=0.443992;CSQ_gnomADe_Hom=24752;CSQ_COSMICcMuts=COSV52877822;CSQ_COSMICncMuts=COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822&COSV52877822;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:S246S;CSQ_CADD_PHRED=0.044 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,93:211:0.44076:65:-100:0.1388:12,30,8,16,9,18,27,74,18,31,28,33:100:100 +8 145742514 . A G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=RECQL4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.274T>C;CSQ_HGVSp=NP_004251.4:p.Ser92Pro;CSQ_HGVSg=8:g.145742514A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=135161;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome&Rapadilino_syndrome&Rothmund-Thomson_syndrome_type_2¬_specified;CSQ_gnomADg_AC=30381;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.981489;CSQ_gnomADe_AC=235947;CSQ_gnomADe_AN=243192;CSQ_gnomADe_AF=0.970209;CSQ_gnomADe_Hom=114863;CSQ_COSMICcMuts=COSV52881402;CSQ_COSMICncMuts=COSV52881402&COSV52881402&COSV52881402&COSV52881402&COSV52881402&COSV52881402&COSV52881402&COSV52881402&COSV52881402&COSV52881402&COSV52881402&COSV52881402;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:S92P;CSQ_CADD_PHRED=5.653 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,165:165:1:65:-100:0.1451:27,52,12,30,15,29,27,52,12,30,15,29:100:100 +8 145742879 . T C 100 PASS DP=33;CSQ_Allele=C;CSQ_SYMBOL=RECQL4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/22;CSQ_INTRON=.;CSQ_Feature=NM_004260.4;CSQ_HGVSc=NM_004260.4:c.132A>G;CSQ_HGVSp=NP_004251.4:p.Glu44%3D;CSQ_HGVSg=8:g.145742879T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=94885;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Baller-Gerold_syndrome&Rapadilino_syndrome&Rothmund-Thomson_syndrome_type_2¬_specified¬_provided;CSQ_gnomADg_AC=16525;CSQ_gnomADg_AN=30762;CSQ_gnomADg_AF=0.537189;CSQ_gnomADe_AC=110211;CSQ_gnomADe_AN=205422;CSQ_gnomADe_AF=0.53651;CSQ_gnomADe_Hom=30107;CSQ_COSMICcMuts=COSV52877828;CSQ_COSMICncMuts=COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828&COSV52877828;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RECQL4:E44E;CSQ_CADD_PHRED=9.231 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,13:33:0.39394:65:-100:0.1081:5,0,4,0,4,0,15,0,11,0,7,0:100:100 +9 5003338 . G A 100 PASS DP=73;CSQ_Allele=A;CSQ_SYMBOL=JAK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/24;CSQ_Feature=NM_004972.4;CSQ_HGVSc=NM_004972.4:c.-26+17316G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.5003338G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20651;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.669704;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67666193&COSV67666193;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=JAK2:5UTR&JAK2:5UTRint&JAK2:5UTRintd;CSQ_CADD_PHRED=0.122 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,49:73:0.67123:65:-100:0.1705:9,14,2,6,3,15,13,20,2,11,4,23:100:100 +9 5024450 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=JAK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/24;CSQ_Feature=NM_004972.4;CSQ_HGVSc=NM_004972.4:c.226+2237C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.5024450C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=61;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.00197079;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,8:90:0.08889:65:-100:0.1667:3,1,2,0,0,2,15,25,5,13,12,20:100:100 +9 5050706 . C T 100 PASS DP=76;CSQ_Allele=T;CSQ_SYMBOL=JAK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/25;CSQ_INTRON=.;CSQ_Feature=NM_004972.4;CSQ_HGVSc=NM_004972.4:c.489C>T;CSQ_HGVSp=NP_004963.1:p.His163%3D;CSQ_HGVSg=9:g.5050706C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=367122;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=10883;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.352611;CSQ_gnomADe_AC=79153;CSQ_gnomADe_AN=245590;CSQ_gnomADe_AF=0.322297;CSQ_gnomADe_Hom=13013;CSQ_COSMICcMuts=COSV67575449&COSV67575449&COSV67575449;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=JAK2:5UTR&JAK2:H14H&JAK2:H163H;CSQ_CADD_PHRED=9.109 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,13:76:0.17105:65:-100:0.1828:3,3,1,2,1,3,15,24,4,15,6,12:100:100 +9 5072245 . CAGG C 100 PASS DP=93;CSQ_Allele=-;CSQ_SYMBOL=JAK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/24;CSQ_Feature=NM_004972.4;CSQ_HGVSc=NM_004972.4:c.1642-244_1642-242del;CSQ_HGVSp=.;CSQ_HGVSg=9:g.5072248_5072250del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=158;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00510303;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.033 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,6:93:0.06452:65:-49.318:0:0,2,0,2,1,1,24,25,4,19,6,18:88.088:100 +9 5081780 . G A 100 PASS DP=91;CSQ_Allele=A;CSQ_SYMBOL=JAK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/25;CSQ_INTRON=.;CSQ_Feature=NM_004972.4;CSQ_HGVSc=NM_004972.4:c.2490G>A;CSQ_HGVSp=NP_004963.1:p.Leu830%3D;CSQ_HGVSg=9:g.5081780G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=367129;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=18875;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.610762;CSQ_gnomADe_AC=129563;CSQ_gnomADe_AN=246080;CSQ_gnomADe_AF=0.526508;CSQ_gnomADe_Hom=35390;CSQ_COSMICcMuts=COSV67575445&COSV67575445&COSV67575445&COSV67575445;CSQ_COSMICncMuts=COSV67575445;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=JAK2:L425L&JAK2:L681L&JAK2:L830L;CSQ_CADD_PHRED=3.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,43:91:0.47253:65:-100:0.1333:8,14,3,6,7,5,19,28,7,13,15,9:100:100 +9 5557672 . T C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=PDCD1LG2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_025239.4;CSQ_HGVSc=NM_025239.4:c.686T>C;CSQ_HGVSp=NP_079515.2:p.Phe229Ser;CSQ_HGVSg=9:g.5557672T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30944;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.998902;CSQ_gnomADe_AC=245824;CSQ_gnomADe_AN=246052;CSQ_gnomADe_AF=0.999073;CSQ_gnomADe_Hom=122800;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=0.029;CSQ_Mastermind_MMID3=PDCD1LG2:F229S;CSQ_CADD_PHRED=8.328 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,109:109:1:65:-100:0.1417:10,41,8,22,8,20,10,41,8,22,8,20:100:100 +9 5557708 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=PDCD1LG2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_025239.4;CSQ_HGVSc=NM_025239.4:c.722T>C;CSQ_HGVSp=NP_079515.2:p.Ile241Thr;CSQ_HGVSg=9:g.5557708T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6956;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.224764;CSQ_gnomADe_AC=35202;CSQ_gnomADe_AN=245842;CSQ_gnomADe_AF=0.14319;CSQ_gnomADe_Hom=4454;CSQ_COSMICcMuts=COSV67203946&COSV67203946;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.018;CSQ_Mastermind_MMID3=PDCD1LG2:I241T;CSQ_CADD_PHRED=8.524 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,25:119:0.21008:65:-100:0.1053:3,10,2,8,0,2,18,42,10,24,7,18:100:100 +9 8341947 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/30;CSQ_INTRON=.;CSQ_Feature=NM_001040712.2;CSQ_HGVSc=NM_001040712.2:c.3463G>A;CSQ_HGVSp=NP_001035802.1:p.Val1155Ile;CSQ_HGVSg=9:g.8341947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=3.23666e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.300;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,13:111:0.11712:65:-100:0.1462:0,4,1,4,1,3,16,33,10,18,11,23:100:100 +9 8341947 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/30;CSQ_INTRON=.;CSQ_Feature=NM_001171025.2;CSQ_HGVSc=NM_001171025.2:c.3472G>A;CSQ_HGVSp=NP_001164496.1:p.Val1158Ile;CSQ_HGVSg=9:g.8341947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=3.23666e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.300;CSQ_Mastermind_MMID3=PTPRD:V1152I&PTPRD:V1158I&PTPRD:V1162I&PTPRD:V1565I;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,13:111:0.11712:65:-100:0.1462:0,4,1,4,1,3,16,33,10,18,11,23:100:100 +9 8341947 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=40/46;CSQ_INTRON=.;CSQ_Feature=NM_002839.4;CSQ_HGVSc=NM_002839.4:c.4693G>A;CSQ_HGVSp=NP_002830.1:p.Val1565Ile;CSQ_HGVSg=9:g.8341947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=3.23666e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974&COSV61930974;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.300;CSQ_Mastermind_MMID3=PTPRD:V1152I&PTPRD:V1158I&PTPRD:V1162I&PTPRD:V1565I;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,13:111:0.11712:65:-100:0.1462:0,4,1,4,1,3,16,33,10,18,11,23:100:100 +9 8389364 . C G 100 PASS DP=92;CSQ_Allele=G;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/30;CSQ_INTRON=.;CSQ_Feature=NM_001040712.2;CSQ_HGVSc=NM_001040712.2:c.3024G>C;CSQ_HGVSp=NP_001035802.1:p.Gly1008%3D;CSQ_HGVSg=9:g.8389364C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1225000;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15150;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.491979;CSQ_gnomADe_AC=121095;CSQ_gnomADe_AN=244608;CSQ_gnomADe_AF=0.495057;CSQ_gnomADe_Hom=30762;CSQ_COSMICcMuts=COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRD:G1002G&PTPRD:G1005G&PTPRD:G1008G&PTPRD:G1011G&PTPRD:G1012G&PTPRD:G1015G&PTPRD:G1418G&PTPRD:G1423G&PTPRD:G1438G;CSQ_CADD_PHRED=6.411 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,38:92:0.41304:65:-100:0.1238:6,14,4,8,0,6,15,37,7,16,2,15:100:100 +9 8389364 . C G 100 PASS DP=92;CSQ_Allele=G;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/30;CSQ_INTRON=.;CSQ_Feature=NM_001171025.2;CSQ_HGVSc=NM_001171025.2:c.3033G>C;CSQ_HGVSp=NP_001164496.1:p.Gly1011%3D;CSQ_HGVSg=9:g.8389364C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1225000;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15150;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.491979;CSQ_gnomADe_AC=121095;CSQ_gnomADe_AN=244608;CSQ_gnomADe_AF=0.495057;CSQ_gnomADe_Hom=30762;CSQ_COSMICcMuts=COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRD:G1002G&PTPRD:G1005G&PTPRD:G1008G&PTPRD:G1011G&PTPRD:G1012G&PTPRD:G1015G&PTPRD:G1418G&PTPRD:G1423G&PTPRD:G1438G;CSQ_CADD_PHRED=6.411 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,38:92:0.41304:65:-100:0.1238:6,14,4,8,0,6,15,37,7,16,2,15:100:100 +9 8389364 . C G 100 PASS DP=92;CSQ_Allele=G;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=37/46;CSQ_INTRON=.;CSQ_Feature=NM_002839.4;CSQ_HGVSc=NM_002839.4:c.4254G>C;CSQ_HGVSp=NP_002830.1:p.Gly1418%3D;CSQ_HGVSg=9:g.8389364C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1225000;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15150;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.491979;CSQ_gnomADe_AC=121095;CSQ_gnomADe_AN=244608;CSQ_gnomADe_AF=0.495057;CSQ_gnomADe_Hom=30762;CSQ_COSMICcMuts=COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282&COSV61928282;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRD:G1002G&PTPRD:G1005G&PTPRD:G1008G&PTPRD:G1011G&PTPRD:G1012G&PTPRD:G1015G&PTPRD:G1418G&PTPRD:G1423G&PTPRD:G1438G;CSQ_CADD_PHRED=6.411 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,38:92:0.41304:65:-100:0.1238:6,14,4,8,0,6,15,37,7,16,2,15:100:100 +9 8485996 . G C 100 PASS DP=117;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/29;CSQ_Feature=NM_001040712.2;CSQ_HGVSc=NM_001040712.2:c.1814-672C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.8485996G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=716918;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=156;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00503616;CSQ_gnomADe_AC=244;CSQ_gnomADe_AN=246236;CSQ_gnomADe_AF=0.000990919;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRD:M598int&PTPRD:M598inta&PTPRD:M602int&PTPRD:M602inta&PTPRD:M605int&PTPRD:M605inta&PTPRD:M608int&PTPRD:M608inta&PTPRD:P941A&PTPRD:T602int&PTPRD:T602inta&PTPRD:T605int&PTPRD:T605inta;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,15:117:0.12821:65:-100:0.1761:3,7,2,2,0,1,21,40,15,22,6,13:100:100 +9 8485996 . G C 100 PASS DP=117;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/29;CSQ_Feature=NM_001171025.2;CSQ_HGVSc=NM_001171025.2:c.1793-672C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.8485996G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=716918;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=156;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00503616;CSQ_gnomADe_AC=244;CSQ_gnomADe_AN=246236;CSQ_gnomADe_AF=0.000990919;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRD:M598int&PTPRD:M598inta&PTPRD:M602int&PTPRD:M602inta&PTPRD:M605int&PTPRD:M605inta&PTPRD:M608int&PTPRD:M608inta&PTPRD:P941A&PTPRD:T602int&PTPRD:T602inta&PTPRD:T605int&PTPRD:T605inta;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,15:117:0.12821:65:-100:0.1761:3,7,2,2,0,1,21,40,15,22,6,13:100:100 +9 8485996 . G C 100 PASS DP=117;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=28/46;CSQ_INTRON=.;CSQ_Feature=NM_002839.4;CSQ_HGVSc=NM_002839.4:c.2821C>G;CSQ_HGVSp=NP_002830.1:p.Pro941Ala;CSQ_HGVSg=9:g.8485996G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=716918;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=156;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.00503616;CSQ_gnomADe_AC=244;CSQ_gnomADe_AN=246236;CSQ_gnomADe_AF=0.000990919;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.220;CSQ_Mastermind_MMID3=PTPRD:M598int&PTPRD:M598inta&PTPRD:M602int&PTPRD:M602inta&PTPRD:M605int&PTPRD:M605inta&PTPRD:M608int&PTPRD:M608inta&PTPRD:P941A&PTPRD:T602int&PTPRD:T602inta&PTPRD:T605int&PTPRD:T605inta;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,15:117:0.12821:65:-100:0.1761:3,7,2,2,0,1,21,40,15,22,6,13:100:100 +9 8518052 . G C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/30;CSQ_INTRON=.;CSQ_Feature=NM_001040712.2;CSQ_HGVSc=NM_001040712.2:c.1330C>G;CSQ_HGVSp=NP_001035802.1:p.Gln444Glu;CSQ_HGVSg=9:g.8518052G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1240532;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1003;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0323925;CSQ_gnomADe_AC=11117;CSQ_gnomADe_AN=245998;CSQ_gnomADe_AF=0.0451914;CSQ_gnomADe_Hom=390;CSQ_COSMICcMuts=COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.361;CSQ_Mastermind_MMID3=PTPRD:Q437E&PTPRD:Q441E&PTPRD:Q444E&PTPRD:Q447E;CSQ_CADD_PHRED=17.53 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.137:2,4,6,1,1,1,14,46,15,18,13,20:100:100 +9 8518052 . G C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/30;CSQ_INTRON=.;CSQ_Feature=NM_001171025.2;CSQ_HGVSc=NM_001171025.2:c.1309C>G;CSQ_HGVSp=NP_001164496.1:p.Gln437Glu;CSQ_HGVSg=9:g.8518052G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1240532;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1003;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0323925;CSQ_gnomADe_AC=11117;CSQ_gnomADe_AN=245998;CSQ_gnomADe_AF=0.0451914;CSQ_gnomADe_Hom=390;CSQ_COSMICcMuts=COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.361;CSQ_Mastermind_MMID3=PTPRD:Q437E&PTPRD:Q441E&PTPRD:Q444E&PTPRD:Q447E;CSQ_CADD_PHRED=17.53 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.137:2,4,6,1,1,1,14,46,15,18,13,20:100:100 +9 8518052 . G C 100 PASS DP=126;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/46;CSQ_INTRON=.;CSQ_Feature=NM_002839.4;CSQ_HGVSc=NM_002839.4:c.1339C>G;CSQ_HGVSp=NP_002830.1:p.Gln447Glu;CSQ_HGVSg=9:g.8518052G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1240532;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1003;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0323925;CSQ_gnomADe_AC=11117;CSQ_gnomADe_AN=245998;CSQ_gnomADe_AF=0.0451914;CSQ_gnomADe_Hom=390;CSQ_COSMICcMuts=COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581&COSV61930581;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.361;CSQ_Mastermind_MMID3=PTPRD:Q437E&PTPRD:Q441E&PTPRD:Q444E&PTPRD:Q447E;CSQ_CADD_PHRED=17.53 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,15:126:0.11905:65:-100:0.137:2,4,6,1,1,1,14,46,15,18,13,20:100:100 +9 8518143 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/30;CSQ_INTRON=.;CSQ_Feature=NM_001040712.2;CSQ_HGVSc=NM_001040712.2:c.1239A>G;CSQ_HGVSp=NP_001035802.1:p.Ala413%3D;CSQ_HGVSg=9:g.8518143T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7261;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.234923;CSQ_gnomADe_AC=52336;CSQ_gnomADe_AN=245416;CSQ_gnomADe_AF=0.213254;CSQ_gnomADe_Hom=6503;CSQ_COSMICcMuts=COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRD:A406A&PTPRD:A410A&PTPRD:A413A&PTPRD:A416A;CSQ_CADD_PHRED=1.961 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,24:137:0.17518:65:-100:0.1796:4,6,2,6,4,2,27,50,6,26,8,20:100:100 +9 8518143 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/30;CSQ_INTRON=.;CSQ_Feature=NM_001171025.2;CSQ_HGVSc=NM_001171025.2:c.1218A>G;CSQ_HGVSp=NP_001164496.1:p.Ala406%3D;CSQ_HGVSg=9:g.8518143T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7261;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.234923;CSQ_gnomADe_AC=52336;CSQ_gnomADe_AN=245416;CSQ_gnomADe_AF=0.213254;CSQ_gnomADe_Hom=6503;CSQ_COSMICcMuts=COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRD:A406A&PTPRD:A410A&PTPRD:A413A&PTPRD:A416A;CSQ_CADD_PHRED=1.961 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,24:137:0.17518:65:-100:0.1796:4,6,2,6,4,2,27,50,6,26,8,20:100:100 +9 8518143 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/46;CSQ_INTRON=.;CSQ_Feature=NM_002839.4;CSQ_HGVSc=NM_002839.4:c.1248A>G;CSQ_HGVSp=NP_002830.1:p.Ala416%3D;CSQ_HGVSg=9:g.8518143T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7261;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.234923;CSQ_gnomADe_AC=52336;CSQ_gnomADe_AN=245416;CSQ_gnomADe_AF=0.213254;CSQ_gnomADe_Hom=6503;CSQ_COSMICcMuts=COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307&COSV61928307;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRD:A406A&PTPRD:A410A&PTPRD:A413A&PTPRD:A416A;CSQ_CADD_PHRED=1.961 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,24:137:0.17518:65:-100:0.1796:4,6,2,6,4,2,27,50,6,26,8,20:100:100 +9 8521445 . G T 100 PASS DP=100;CSQ_Allele=T;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/30;CSQ_INTRON=.;CSQ_Feature=NM_001040712.2;CSQ_HGVSc=NM_001040712.2:c.784C>A;CSQ_HGVSp=NP_001035802.1:p.Pro262Thr;CSQ_HGVSg=9:g.8521445G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987;CSQ_COSMICncMuts=COSV61930987;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.820;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,6:100:0.06:65:-98.6903:0.1453:1,2,0,1,2,0,19,39,4,20,9,9:76.698:100 +9 8521445 . G T 100 PASS DP=100;CSQ_Allele=T;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/30;CSQ_INTRON=.;CSQ_Feature=NM_001171025.2;CSQ_HGVSc=NM_001171025.2:c.763C>A;CSQ_HGVSp=NP_001164496.1:p.Pro255Thr;CSQ_HGVSg=9:g.8521445G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987;CSQ_COSMICncMuts=COSV61930987;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.820;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,6:100:0.06:65:-98.6903:0.1453:1,2,0,1,2,0,19,39,4,20,9,9:76.698:100 +9 8521445 . G T 100 PASS DP=100;CSQ_Allele=T;CSQ_SYMBOL=PTPRD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/46;CSQ_INTRON=.;CSQ_Feature=NM_002839.4;CSQ_HGVSc=NM_002839.4:c.793C>A;CSQ_HGVSp=NP_002830.1:p.Pro265Thr;CSQ_HGVSg=9:g.8521445G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987&COSV61930987;CSQ_COSMICncMuts=COSV61930987;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.820;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,6:100:0.06:65:-98.6903:0.1453:1,2,0,1,2,0,19,39,4,20,9,9:76.698:100 +9 8528661 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/30;CSQ_INTRON=.;CSQ_Feature=NM_001040712.2;CSQ_HGVSc=NM_001040712.2:c.471C>T;CSQ_HGVSp=NP_001035802.1:p.Ile157%3D;CSQ_HGVSg=9:g.8528661G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=56;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00180984;CSQ_gnomADe_AC=80;CSQ_gnomADe_AN=246024;CSQ_gnomADe_AF=0.000325172;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.46 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,17:102:0.16667:65:-100:0.113:2,9,0,3,1,2,20,40,5,18,7,12:100:100 +9 8528661 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/30;CSQ_INTRON=.;CSQ_Feature=NM_001171025.2;CSQ_HGVSc=NM_001171025.2:c.471C>T;CSQ_HGVSp=NP_001164496.1:p.Ile157%3D;CSQ_HGVSg=9:g.8528661G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=56;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00180984;CSQ_gnomADe_AC=80;CSQ_gnomADe_AN=246024;CSQ_gnomADe_AF=0.000325172;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.46 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,17:102:0.16667:65:-100:0.113:2,9,0,3,1,2,20,40,5,18,7,12:100:100 +9 8528661 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=PTPRD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/46;CSQ_INTRON=.;CSQ_Feature=NM_002839.4;CSQ_HGVSc=NM_002839.4:c.471C>T;CSQ_HGVSp=NP_002830.1:p.Ile157%3D;CSQ_HGVSg=9:g.8528661G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=56;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.00180984;CSQ_gnomADe_AC=80;CSQ_gnomADe_AN=246024;CSQ_gnomADe_AF=0.000325172;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760&COSV61978760;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.46 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,17:102:0.16667:65:-100:0.113:2,9,0,3,1,2,20,40,5,18,7,12:100:100 +9 21971186 . G A 100 PASS DP=60;CSQ_Allele=A;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_000077.5;CSQ_HGVSc=NM_000077.5:c.172C>T;CSQ_HGVSp=NP_000068.1:p.Arg58Ter;CSQ_HGVSg=9:g.21971186G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=376310;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm&Hereditary_cancer-predisposing_syndrome&Familial_melanoma;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=216668;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666;CSQ_COSMICncMuts=COSV58682666&COSV58682666;CSQ_CGC=TSG;CSQ_Hotspots=CDKN2A:R58;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN2A:3UTR&CDKN2A:P72L&CDKN2A:R58X&CDKN2A:R7X;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,4:60:0.06667:65:-52.9588:0.1549:0,4,0,0,0,0,15,21,1,12,4,7:54.219:100 +9 21971186 . G A 100 PASS DP=60;CSQ_Allele=A;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_001195132.2;CSQ_HGVSc=NM_001195132.2:c.172C>T;CSQ_HGVSp=NP_001182061.1:p.Arg58Ter;CSQ_HGVSg=9:g.21971186G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=376310;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm&Hereditary_cancer-predisposing_syndrome&Familial_melanoma;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=216668;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666;CSQ_COSMICncMuts=COSV58682666&COSV58682666;CSQ_CGC=TSG;CSQ_Hotspots=CDKN2A:R58;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN2A:3UTR&CDKN2A:P72L&CDKN2A:R58X&CDKN2A:R7X;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,4:60:0.06667:65:-52.9588:0.1549:0,4,0,0,0,0,15,21,1,12,4,7:54.219:100 +9 21971186 . G A 100 PASS DP=60;CSQ_Allele=A;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_058195.4;CSQ_HGVSc=NM_058195.4:c.215C>T;CSQ_HGVSp=NP_478102.2:p.Pro72Leu;CSQ_HGVSg=9:g.21971186G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=376310;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm&Hereditary_cancer-predisposing_syndrome&Familial_melanoma;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=216668;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666&COSV58682666;CSQ_COSMICncMuts=COSV58682666&COSV58682666;CSQ_CGC=TSG;CSQ_Hotspots=CDKN2A:R58;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=0.220;CSQ_Mastermind_MMID3=CDKN2A:3UTR&CDKN2A:P72L&CDKN2A:R58X&CDKN2A:R7X;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,4:60:0.06667:65:-52.9588:0.1549:0,4,0,0,0,0,15,21,1,12,4,7:54.219:100 +9 21974525 . G A 100 PASS DP=90;CSQ_Allele=A;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_000077.5;CSQ_HGVSc=NM_000077.5:c.150+152C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.21974525G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=16;CSQ_gnomADe_AN=246242;CSQ_gnomADe_AF=6.49767e-05;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN2A:5UTR&CDKN2A:5UTRint&CDKN2A:5UTRinta&CDKN2A:G65int&CDKN2A:G65inta&CDKN2A:P101L&CDKN2A:Q50int&CDKN2A:Q50intd;CSQ_CADD_PHRED=7.746 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,5:90:0.05556:65:-48.5655:0.1667:1,3,0,1,0,0,11,40,8,15,5,11:63.351:100 +9 21974525 . G A 100 PASS DP=90;CSQ_Allele=A;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/3;CSQ_Feature=NM_001195132.2;CSQ_HGVSc=NM_001195132.2:c.150+152C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.21974525G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=16;CSQ_gnomADe_AN=246242;CSQ_gnomADe_AF=6.49767e-05;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN2A:5UTR&CDKN2A:5UTRint&CDKN2A:5UTRinta&CDKN2A:G65int&CDKN2A:G65inta&CDKN2A:P101L&CDKN2A:Q50int&CDKN2A:Q50intd;CSQ_CADD_PHRED=7.746 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,5:90:0.05556:65:-48.5655:0.1667:1,3,0,1,0,0,11,40,8,15,5,11:63.351:100 +9 21974525 . G A 100 PASS DP=90;CSQ_Allele=A;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_058195.4;CSQ_HGVSc=NM_058195.4:c.194-3318C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.21974525G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=16;CSQ_gnomADe_AN=246242;CSQ_gnomADe_AF=6.49767e-05;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN2A:5UTR&CDKN2A:5UTRint&CDKN2A:5UTRinta&CDKN2A:G65int&CDKN2A:G65inta&CDKN2A:P101L&CDKN2A:Q50int&CDKN2A:Q50intd;CSQ_CADD_PHRED=7.746 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,5:90:0.05556:65:-48.5655:0.1667:1,3,0,1,0,0,11,40,8,15,5,11:63.351:100 +9 21975017 . C T 100 PASS DP=85;CSQ_Allele=T;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_000077.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=9:g.21975017C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=873184;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Melanoma&_cutaneous_malignant&_susceptibility_to&_2¬_provided;CSQ_gnomADg_AC=16090;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.521387;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858;CSQ_COSMICncMuts=COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN2A:5UTR&CDKN2A:5UTRint&CDKN2A:5UTRinta&CDKN2A:G65int&CDKN2A:G65inta;CSQ_CADD_PHRED=9.487 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,51:85:0.6:65:-100:0.1667:7,17,3,9,1,14,11,31,5,16,5,17:100:100 +9 21975017 . C T 100 PASS DP=85;CSQ_Allele=T;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001195132.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=9:g.21975017C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=873184;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Melanoma&_cutaneous_malignant&_susceptibility_to&_2¬_provided;CSQ_gnomADg_AC=16090;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.521387;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858;CSQ_COSMICncMuts=COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN2A:5UTR&CDKN2A:5UTRint&CDKN2A:5UTRinta&CDKN2A:G65int&CDKN2A:G65inta;CSQ_CADD_PHRED=9.487 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,51:85:0.6:65:-100:0.1667:7,17,3,9,1,14,11,31,5,16,5,17:100:100 +9 21975017 . C T 100 PASS DP=85;CSQ_Allele=T;CSQ_SYMBOL=CDKN2A;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_058195.4;CSQ_HGVSc=NM_058195.4:c.194-3810G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.21975017C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=873184;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Melanoma&_cutaneous_malignant&_susceptibility_to&_2¬_provided;CSQ_gnomADg_AC=16090;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.521387;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858;CSQ_COSMICncMuts=COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858&COSV58720858;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN2A:5UTR&CDKN2A:5UTRint&CDKN2A:5UTRinta&CDKN2A:G65int&CDKN2A:G65inta;CSQ_CADD_PHRED=9.487 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,51:85:0.6:65:-100:0.1667:7,17,3,9,1,14,11,31,5,16,5,17:100:100 +9 36840623 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=PAX5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001280547.2;CSQ_HGVSc=NM_001280547.2:c.1008C>T;CSQ_HGVSp=NP_001267476.1:p.Tyr336%3D;CSQ_HGVSg=9:g.36840623G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134998;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=24097;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.781761;CSQ_gnomADe_AC=153983;CSQ_gnomADe_AN=175010;CSQ_gnomADe_AF=0.879853;CSQ_gnomADe_Hom=69303;CSQ_COSMICcMuts=COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX5:T264I&PAX5:T293I&PAX5:Y199Y&PAX5:Y262Y&PAX5:Y270Y&PAX5:Y298Y&PAX5:Y307Y&PAX5:Y327Y&PAX5:Y336Y&PAX5:Y341Y&PAX5:Y370Y;CSQ_CADD_PHRED=9.088 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,132:149:0.88591:65:-100:0.1676:18,53,13,23,7,18,20,59,13,29,7,21:100:100 +9 36840623 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=PAX5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_016734.3;CSQ_HGVSc=NM_016734.3:c.1110C>T;CSQ_HGVSp=NP_057953.1:p.Tyr370%3D;CSQ_HGVSg=9:g.36840623G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134998;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=24097;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.781761;CSQ_gnomADe_AC=153983;CSQ_gnomADe_AN=175010;CSQ_gnomADe_AF=0.879853;CSQ_gnomADe_Hom=69303;CSQ_COSMICcMuts=COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAX5:T264I&PAX5:T293I&PAX5:Y199Y&PAX5:Y262Y&PAX5:Y270Y&PAX5:Y298Y&PAX5:Y307Y&PAX5:Y327Y&PAX5:Y336Y&PAX5:Y341Y&PAX5:Y370Y;CSQ_CADD_PHRED=9.088 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,132:149:0.88591:65:-100:0.1676:18,53,13,23,7,18,20,59,13,29,7,21:100:100 +9 36840623 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=PAX5;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NR_104000.2;CSQ_HGVSc=NR_104000.2:n.1274C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.36840623G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134998;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=24097;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.781761;CSQ_gnomADe_AC=153983;CSQ_gnomADe_AN=175010;CSQ_gnomADe_AF=0.879853;CSQ_gnomADe_Hom=69303;CSQ_COSMICcMuts=COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740&COSV63910740;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.088 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,132:149:0.88591:65:-100:0.1676:18,53,13,23,7,18,20,59,13,29,7,21:100:100 +9 87283416 . C A 100 PASS DP=85;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87283416C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24936;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.80699;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.460 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:2,83:85:0.97647:65:-100:0.1237:14,33,8,14,3,11,16,33,8,14,3,11:100:100 +9 87283416 . C A 100 PASS DP=85;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87283416C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24936;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.80699;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.460 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:2,83:85:0.97647:65:-100:0.1237:14,33,8,14,3,11,16,33,8,14,3,11:100:100 +9 87283416 . C A 100 PASS DP=85;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87283416C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24936;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.80699;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.460 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:2,83:85:0.97647:65:-100:0.1237:14,33,8,14,3,11,16,33,8,14,3,11:100:100 +9 87285595 . C G 100 PASS DP=124;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/15;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.-69C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87285595C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1295965;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15717;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.509102;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221;CSQ_COSMICncMuts=COSV52861221;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:5UTR;CSQ_CADD_PHRED=12.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,58:124:0.46774:65:-100:0.1733:10,23,7,10,2,6,18,43,14,21,7,21:100:100 +9 87285595 . C G 100 PASS DP=124;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.-69C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87285595C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1295965;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15717;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.509102;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221;CSQ_COSMICncMuts=COSV52861221;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:5UTR;CSQ_CADD_PHRED=12.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,58:124:0.46774:65:-100:0.1733:10,23,7,10,2,6,18,43,14,21,7,21:100:100 +9 87285595 . C G 100 PASS DP=124;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/19;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.-69C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87285595C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1295965;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15717;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.509102;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221&COSV52861221;CSQ_COSMICncMuts=COSV52861221;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:5UTR;CSQ_CADD_PHRED=12.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,58:124:0.46774:65:-100:0.1733:10,23,7,10,2,6,18,43,14,21,7,21:100:100 +9 87357394 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.1195+552T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87357394T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.344 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,12:118:0.10169:65:-100:0.1194:1,3,1,4,1,2,19,31,8,19,12,29:100:100 +9 87357394 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1195+552T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87357394T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.344 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,12:118:0.10169:65:-100:0.1194:1,3,1,4,1,2,19,31,8,19,12,29:100:100 +9 87357394 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1195+552T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87357394T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.344 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,12:118:0.10169:65:-100:0.1194:1,3,1,4,1,2,19,31,8,19,12,29:100:100 +9 87358168 . C T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.1195+1326C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87358168C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=344;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0111154;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.385 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,14:105:0.13333:65:-100:0.1532:2,5,1,1,1,4,18,35,7,19,6,20:100:100 +9 87358168 . C T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1195+1326C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87358168C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=344;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0111154;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.385 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,14:105:0.13333:65:-100:0.1532:2,5,1,1,1,4,18,35,7,19,6,20:100:100 +9 87358168 . C T 100 PASS DP=105;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1195+1326C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87358168C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=344;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0111154;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.385 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,14:105:0.13333:65:-100:0.1532:2,5,1,1,1,4,18,35,7,19,6,20:100:100 +9 87358664 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.1196-1224T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87358664T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16322;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.527571;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:D243int&NTRK2:D243inta&NTRK2:D386int&NTRK2:D386inta&NTRK2:D387int&NTRK2:D387inta&NTRK2:D399int&NTRK2:D399inta;CSQ_CADD_PHRED=7.680 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,105:122:0.86066:65:-100:0.1159:14,25,10,29,6,21,18,30,14,31,7,22:100:100 +9 87358664 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1196-1224T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87358664T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16322;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.527571;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:D243int&NTRK2:D243inta&NTRK2:D386int&NTRK2:D386inta&NTRK2:D387int&NTRK2:D387inta&NTRK2:D399int&NTRK2:D399inta;CSQ_CADD_PHRED=7.680 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,105:122:0.86066:65:-100:0.1159:14,25,10,29,6,21,18,30,14,31,7,22:100:100 +9 87358664 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1196-1224T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87358664T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16322;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.527571;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871&COSV99451871;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:D243int&NTRK2:D243inta&NTRK2:D386int&NTRK2:D386inta&NTRK2:D387int&NTRK2:D387inta&NTRK2:D399int&NTRK2:D399inta;CSQ_CADD_PHRED=7.680 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,105:122:0.86066:65:-100:0.1159:14,25,10,29,6,21,18,30,14,31,7,22:100:100 +9 87359443 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/14;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.1196-445C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87359443C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1914;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0618017;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:D243int&NTRK2:D243inta&NTRK2:D386int&NTRK2:D386inta&NTRK2:D387int&NTRK2:D387inta&NTRK2:D399int&NTRK2:D399inta;CSQ_CADD_PHRED=4.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,46:132:0.34848:65:-100:0.12:5,16,8,3,4,10,14,55,18,13,7,25:100:100 +9 87359443 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1196-445C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87359443C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1914;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0618017;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:D243int&NTRK2:D243inta&NTRK2:D386int&NTRK2:D386inta&NTRK2:D387int&NTRK2:D387inta&NTRK2:D399int&NTRK2:D399inta;CSQ_CADD_PHRED=4.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,46:132:0.34848:65:-100:0.12:5,16,8,3,4,10,14,55,18,13,7,25:100:100 +9 87359443 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1196-445C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87359443C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1914;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0618017;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517&COSV99453517;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:D243int&NTRK2:D243inta&NTRK2:D386int&NTRK2:D386inta&NTRK2:D387int&NTRK2:D387inta&NTRK2:D399int&NTRK2:D399inta;CSQ_CADD_PHRED=4.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,46:132:0.34848:65:-100:0.12:5,16,8,3,4,10,14,55,18,13,7,25:100:100 +9 87425973 . G A 100 PASS DP=96;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.*479G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87425973G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25621;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.828408;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.113 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,56:96:0.58333:65:-100:0.1933:7,24,2,11,3,9,16,41,4,15,4,16:100:100 +9 87425973 . G A 100 PASS DP=96;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-56185G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87425973G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25621;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.828408;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=5.113 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,56:96:0.58333:65:-100:0.1933:7,24,2,11,3,9,16,41,4,15,4,16:100:100 +9 87425973 . G A 100 PASS DP=96;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1397-49982G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87425973G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25621;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.828408;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989&COSV99451989;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=5.113 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,56:96:0.58333:65:-100:0.1933:7,24,2,11,3,9,16,41,4,15,4,16:100:100 +9 87426248 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.*754A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87426248A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1105;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0356889;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552;CSQ_COSMICncMuts=COSV99453552;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.804 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,44:138:0.31884:65:-100:0.1375:8,13,1,7,5,10,26,36,13,19,13,31:100:100 +9 87426248 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-55910A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87426248A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1105;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0356889;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552;CSQ_COSMICncMuts=COSV99453552;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=1.804 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,44:138:0.31884:65:-100:0.1375:8,13,1,7,5,10,26,36,13,19,13,31:100:100 +9 87426248 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1397-49707A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87426248A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1105;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0356889;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552&COSV99453552;CSQ_COSMICncMuts=COSV99453552;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=1.804 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,44:138:0.31884:65:-100:0.1375:8,13,1,7,5,10,26,36,13,19,13,31:100:100 +9 87428106 . C G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.*2612C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428106C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.467 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-97.1625:0.1307:1,2,1,3,1,1,19,42,13,27,10,22:100:100 +9 87428106 . C G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-54052C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428106C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.467 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-97.1625:0.1307:1,2,1,3,1,1,19,42,13,27,10,22:100:100 +9 87428106 . C G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1397-47849C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428106C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.467 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-97.1625:0.1307:1,2,1,3,1,1,19,42,13,27,10,22:100:100 +9 87428760 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.*3266C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428760C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.532 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-100:0.12:1,2,1,3,0,3,25,40,13,24,5,25:100:100 +9 87428760 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-53398C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428760C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.532 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-100:0.12:1,2,1,3,0,3,25,40,13,24,5,25:100:100 +9 87428760 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1397-47195C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428760C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.532 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-100:0.12:1,2,1,3,0,3,25,40,13,24,5,25:100:100 +9 87428866 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.*3372C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428866C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21484;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.694915;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990;CSQ_COSMICncMuts=COSV99451990;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.968 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,53:119:0.44538:65:-100:0.1439:4,27,4,11,3,4,12,50,8,26,5,18:100:100 +9 87428866 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-53292C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428866C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21484;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.694915;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990;CSQ_COSMICncMuts=COSV99451990;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=0.968 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,53:119:0.44538:65:-100:0.1439:4,27,4,11,3,4,12,50,8,26,5,18:100:100 +9 87428866 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1397-47089C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87428866C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21484;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.694915;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990&COSV99451990;CSQ_COSMICncMuts=COSV99451990;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=0.968 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,53:119:0.44538:65:-100:0.1439:4,27,4,11,3,4,12,50,8,26,5,18:100:100 +9 87429290 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.*3796A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87429290A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22143;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.716231;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992;CSQ_COSMICncMuts=COSV99451992;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,85:146:0.58219:65:-100:0.0641:15,29,7,10,12,12,30,47,11,15,20,23:100:100 +9 87429290 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-52868A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87429290A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22143;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.716231;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992;CSQ_COSMICncMuts=COSV99451992;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=6.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,85:146:0.58219:65:-100:0.0641:15,29,7,10,12,12,30,47,11,15,20,23:100:100 +9 87429290 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1397-46665A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87429290A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22143;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.716231;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992&COSV99451992;CSQ_COSMICncMuts=COSV99451992;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=6.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,85:146:0.58219:65:-100:0.0641:15,29,7,10,12,12,30,47,11,15,20,23:100:100 +9 87430521 . T A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001007097.3;CSQ_HGVSc=NM_001007097.3:c.*5027T>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87430521T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23369;CSQ_gnomADg_AN=30692;CSQ_gnomADg_AF=0.761404;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994;CSQ_COSMICncMuts=COSV99451994;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.467 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,66:117:0.5641:65:-100:0.1643:12,16,9,13,3,13,23,29,9,26,9,21:100:100 +9 87430521 . T A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-51637T>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87430521T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23369;CSQ_gnomADg_AN=30692;CSQ_gnomADg_AF=0.761404;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994;CSQ_COSMICncMuts=COSV99451994;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=0.467 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,66:117:0.5641:65:-100:0.1643:12,16,9,13,3,13,23,29,9,26,9,21:100:100 +9 87430521 . T A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1397-45434T>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87430521T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23369;CSQ_gnomADg_AN=30692;CSQ_gnomADg_AF=0.761404;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994&COSV99451994;CSQ_COSMICncMuts=COSV99451994;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:D310int&NTRK2:D310inta&NTRK2:D466int&NTRK2:D466inta&NTRK2:G310int&NTRK2:G310inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta;CSQ_CADD_PHRED=0.467 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,66:117:0.5641:65:-100:0.1643:12,16,9,13,3,13,23,29,9,26,9,21:100:100 +9 87476770 . GTT ATG 100 PASS DP=159;CSQ_Allele=ATG;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-5388_1397-5386delinsATG;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87476770_87476772delinsATG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,7:159:0.04403:65:-45.9152:0:1,3,0,2,0,1,44,106,32,60,20,56:85.788:100 +9 87476770 . GTT ATG 100 PASS DP=159;CSQ_Allele=ATG;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1444+768_1444+770delinsATG;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87476770_87476772delinsATG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,7:159:0.04403:65:-45.9152:0:1,3,0,2,0,1,44,106,32,60,20,56:85.788:100 +9 87476973 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-5185G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87476973G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=285;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00920424;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,11:131:0.08397:65:-100:0.1438:2,2,1,4,1,1,20,48,8,19,12,24:100:100 +9 87476973 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1444+971G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87476973G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=285;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00920424;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,11:131:0.08397:65:-100:0.1438:2,2,1,4,1,1,20,48,8,19,12,24:100:100 +9 87477084 . G T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-5074G>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87477084G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=365;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0117886;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.535 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,15:145:0.10345:65:-100:0.152:1,6,1,4,2,1,11,60,13,32,8,21:100:100 +9 87477084 . G T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1444+1082G>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87477084G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=365;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0117886;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.535 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,15:145:0.10345:65:-100:0.152:1,6,1,4,2,1,11,60,13,32,8,21:100:100 +9 87477274 . T G 100 PASS DP=199;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-4884T>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87477274T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3715;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.120087;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452779&COSV99452779&COSV99452779&COSV99452779&COSV99452779&COSV99452779;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=0.090 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:175,24:199:0.1206:65:-100:0.1156:6,7,1,4,1,5,37,64,23,29,18,28:100:100 +9 87477274 . T G 100 PASS DP=199;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1444+1272T>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87477274T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3715;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.120087;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452779&COSV99452779&COSV99452779&COSV99452779&COSV99452779&COSV99452779;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=0.090 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:175,24:199:0.1206:65:-100:0.1156:6,7,1,4,1,5,37,64,23,29,18,28:100:100 +9 87478135 . A C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-4023A>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87478135A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8432;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.273092;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99453599&COSV99453599&COSV99453599&COSV99453599&COSV99453599&COSV99453599;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=11.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,74:132:0.56061:65:-100:0.1141:11,28,2,16,3,14,19,44,7,26,8,28:100:100 +9 87478135 . A C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1444+2133A>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87478135A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8432;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.273092;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99453599&COSV99453599&COSV99453599&COSV99453599&COSV99453599&COSV99453599;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=11.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,74:132:0.56061:65:-100:0.1141:11,28,2,16,3,14,19,44,7,26,8,28:100:100 +9 87478172 . T G 100 PASS DP=139;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-3986T>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87478172T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10788;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.349262;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452045&COSV99452045&COSV99452045&COSV99452045&COSV99452045&COSV99452045;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=5.903 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,28:139:0.20144:65:-100:0.1203:3,14,1,3,2,5,20,44,6,30,9,30:100:100 +9 87478172 . T G 100 PASS DP=139;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1444+2170T>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87478172T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10788;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.349262;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452045&COSV99452045&COSV99452045&COSV99452045&COSV99452045&COSV99452045;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=5.903 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,28:139:0.20144:65:-100:0.1203:3,14,1,3,2,5,20,44,6,30,9,30:100:100 +9 87478324 . C A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-3834C>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87478324C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00209853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=2.028 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-96.2334:0.1149:0,2,1,1,0,3,24,44,13,24,10,39:69.677:100 +9 87478324 . C A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1444+2322C>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87478324C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00209853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=2.028 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-96.2334:0.1149:0,2,1,1,0,3,24,44,13,24,10,39:69.677:100 +9 87478710 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-3448T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87478710T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5460;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.176357;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452047&COSV99452047&COSV99452047&COSV99452047&COSV99452047&COSV99452047;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=14.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,34:135:0.25185:65:-100:0.1718:7,8,4,6,6,3,26,37,11,25,16,20:100:100 +9 87478710 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1444+2708T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87478710T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5460;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.176357;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452047&COSV99452047&COSV99452047&COSV99452047&COSV99452047&COSV99452047;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326intd&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482intd;CSQ_CADD_PHRED=14.23 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,34:135:0.25185:65:-100:0.1718:7,8,4,6,6,3,26,37,11,25,16,20:100:100 +9 87479105 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-3053G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87479105G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26632;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.861208;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452049&COSV99452049&COSV99452049&COSV99452049&COSV99452049&COSV99452049;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=3.931 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,106:125:0.848:65:-100:0.1197:15,38,8,18,10,17,19,43,10,22,12,19:100:100 +9 87479105 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-3053G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87479105G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26632;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.861208;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452049&COSV99452049&COSV99452049&COSV99452049&COSV99452049&COSV99452049;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=3.931 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,106:125:0.848:65:-100:0.1197:15,38,8,18,10,17,19,43,10,22,12,19:100:100 +9 87479185 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-2973C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87479185C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00210016;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.126 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,6:120:0.05:65:-100:0.1429:0,3,0,3,0,0,18,45,8,22,11,16:77.483:100 +9 87479185 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-2973C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87479185C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00210016;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.126 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,6:120:0.05:65:-100:0.1429:0,3,0,3,0,0,18,45,8,22,11,16:77.483:100 +9 87479337 . A G 100 PASS DP=99;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-2821A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87479337A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8712;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.282106;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452050&COSV99452050&COSV99452050&COSV99452050&COSV99452050&COSV99452050;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=0.338 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,52:99:0.52525:65:-100:0.2826:12,11,7,7,6,9,22,26,11,14,12,14:100:100 +9 87479337 . A G 100 PASS DP=99;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-2821A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87479337A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8712;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.282106;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452050&COSV99452050&COSV99452050&COSV99452050&COSV99452050&COSV99452050;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=0.338 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,52:99:0.52525:65:-100:0.2826:12,11,7,7,6,9,22,26,11,14,12,14:100:100 +9 87479406 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-2752A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87479406A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3713;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.120038;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452784&COSV99452784&COSV99452784&COSV99452784&COSV99452784&COSV99452784;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=3.482 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,19:120:0.15833:65:-100:0.1608:3,7,4,5,0,0,17,40,14,22,7,20:100:100 +9 87479406 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-2752A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87479406A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3713;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.120038;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452784&COSV99452784&COSV99452784&COSV99452784&COSV99452784&COSV99452784;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=3.482 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,19:120:0.15833:65:-100:0.1608:3,7,4,5,0,0,17,40,14,22,7,20:100:100 +9 87480483 . A C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-1675A>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87480483A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3717;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.120136;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452787&COSV99452787&COSV99452787&COSV99452787&COSV99452787&COSV99452787;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=6.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,10:134:0.07463:65:-100:0.1126:0,6,0,1,0,3,20,57,9,19,10,19:100:100 +9 87480483 . A C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-1675A>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87480483A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3717;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.120136;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452787&COSV99452787&COSV99452787&COSV99452787&COSV99452787&COSV99452787;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=6.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,10:134:0.07463:65:-100:0.1126:0,6,0,1,0,3,20,57,9,19,10,19:100:100 +9 87480759 . C G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-1399C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87480759C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4464;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.144223;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452051&COSV99452051&COSV99452051&COSV99452051&COSV99452051&COSV99452051;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=3.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,27:156:0.17308:65:-100:0.1429:9,11,0,2,2,3,33,53,14,19,15,22:100:100 +9 87480759 . C G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-1399C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87480759C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4464;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.144223;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452051&COSV99452051&COSV99452051&COSV99452051&COSV99452051&COSV99452051;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=3.767 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,27:156:0.17308:65:-100:0.1429:9,11,0,2,2,3,33,53,14,19,15,22:100:100 +9 87480828 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-1330T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87480828T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4467;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.14433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452052&COSV99452052&COSV99452052&COSV99452052&COSV99452052&COSV99452052;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=4.441 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,21:118:0.17797:65:-100:0.1259:2,8,3,3,1,4,17,48,10,17,12,14:100:100 +9 87480828 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-1330T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87480828T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4467;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.14433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452052&COSV99452052&COSV99452052&COSV99452052&COSV99452052&COSV99452052;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=4.441 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,21:118:0.17797:65:-100:0.1259:2,8,3,3,1,4,17,48,10,17,12,14:100:100 +9 87480917 . T A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-1241T>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87480917T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.900 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,6:122:0.04918:65:-98.0466:0.1348:0,4,1,0,0,1,19,40,15,17,8,23:74.738:100 +9 87480917 . T A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-1241T>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87480917T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.900 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,6:122:0.04918:65:-98.0466:0.1348:0,4,1,0,0,1,19,40,15,17,8,23:74.738:100 +9 87481852 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-306G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87481852G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1227426;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3708;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.119922;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452789&COSV99452789&COSV99452789&COSV99452789&COSV99452789&COSV99452789;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=0.275 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,13:151:0.08609:65:-100:0.1564:3,4,1,2,2,1,25,49,15,27,14,21:100:100 +9 87481852 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-306G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87481852G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1227426;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3708;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.119922;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452789&COSV99452789&COSV99452789&COSV99452789&COSV99452789&COSV99452789;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:G310int&NTRK2:G310inta&NTRK2:G326int&NTRK2:G326inta&NTRK2:G454int&NTRK2:G454inta&NTRK2:G466int&NTRK2:G466inta&NTRK2:G482int&NTRK2:G482inta;CSQ_CADD_PHRED=0.275 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,13:151:0.08609:65:-100:0.1564:3,4,1,2,2,1,25,49,15,27,14,21:100:100 +9 87482020 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/15;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.1397-138A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87482020A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.955 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0.1212:0,3,1,3,1,2,20,52,18,22,10,23:100:100 +9 87482020 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1445-138A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87482020A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.955 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,10:145:0.06897:65:-100:0.1212:0,3,1,3,1,2,20,52,18,22,10,23:100:100 +9 87488402 . C A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*1670C>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87488402C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5404;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.174695;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452055&COSV99452055&COSV99452055&COSV99452055&COSV99452055&COSV99452055;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.798 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,27:145:0.18621:65:-100:0.2328:6,6,3,7,4,1,29,47,11,29,10,19:100:100 +9 87488402 . C A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+6056C>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87488402C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5404;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.174695;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452055&COSV99452055&COSV99452055&COSV99452055&COSV99452055&COSV99452055;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=1.798 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,27:145:0.18621:65:-100:0.2328:6,6,3,7,4,1,29,47,11,29,10,19:100:100 +9 87488718 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*1986A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87488718A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5312;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.17172;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452056&COSV99452056&COSV99452056&COSV99452056&COSV99452056&COSV99452056;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.035 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,32:153:0.20915:65:-100:0.173:5,10,4,6,3,4,18,52,17,32,14,20:100:100 +9 87488718 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+6372A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87488718A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5312;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.17172;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452056&COSV99452056&COSV99452056&COSV99452056&COSV99452056&COSV99452056;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=0.035 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,32:153:0.20915:65:-100:0.173:5,10,4,6,3,4,18,52,17,32,14,20:100:100 +9 87489785 . G C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*3053G>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87489785G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12408;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.401813;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.955 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,63:132:0.47727:65:-100:0.1081:11,20,5,10,5,12,21,44,10,25,7,25:100:100 +9 87489785 . G C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+7439G>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87489785G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12408;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.401813;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=1.955 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,63:132:0.47727:65:-100:0.1081:11,20,5,10,5,12,21,44,10,25,7,25:100:100 +9 87489848 . C G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*3116C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87489848C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1476;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0476744;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105872179&COSV105872179&COSV105872179&COSV105872179&COSV105872179&COSV105872179;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.974 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,31:141:0.21986:65:-100:0.0962:5,12,1,4,1,8,18,50,13,24,11,25:100:100 +9 87489848 . C G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+7502C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87489848C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1476;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0476744;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105872179&COSV105872179&COSV105872179&COSV105872179&COSV105872179&COSV105872179;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=1.974 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,31:141:0.21986:65:-100:0.0962:5,12,1,4,1,8,18,50,13,24,11,25:100:100 +9 87490147 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*3415T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490147T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.00209772;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.029 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,7:160:0.04375:65:-100:0.1304:1,2,1,1,1,1,18,57,18,30,12,25:76.138:100 +9 87490147 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+7801T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490147T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.00209772;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.029 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,7:160:0.04375:65:-100:0.1304:1,2,1,1,1,1,18,57,18,30,12,25:76.138:100 +9 87490164 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*3432G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490164G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=693;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.0223693;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99454731&COSV99454731&COSV99454731&COSV99454731&COSV99454731&COSV99454731;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.045 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,29:167:0.17365:65:-100:0.1164:4,12,4,4,2,3,22,56,16,31,14,28:100:100 +9 87490164 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+7818G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490164G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=693;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.0223693;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99454731&COSV99454731&COSV99454731&COSV99454731&COSV99454731&COSV99454731;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=2.045 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,29:167:0.17365:65:-100:0.1164:4,12,4,4,2,3,22,56,16,31,14,28:100:100 +9 87490255 . C T 100 PASS DP=117;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*3523C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490255C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1472;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0475606;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.392 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,30:117:0.25641:65:-100:0.146:5,11,1,3,1,9,14,52,7,17,2,25:100:100 +9 87490255 . C T 100 PASS DP=117;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+7909C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490255C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1472;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0475606;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=0.392 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,30:117:0.25641:65:-100:0.146:5,11,1,3,1,9,14,52,7,17,2,25:100:100 +9 87490546 . C G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*3814C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490546C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5441;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.175822;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452058&COSV99452058&COSV99452058&COSV99452058&COSV99452058&COSV99452058;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.246 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,23:145:0.15862:65:-100:0.1808:3,10,1,4,4,1,27,54,12,22,10,20:100:100 +9 87490546 . C G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+8200C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490546C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5441;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.175822;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452058&COSV99452058&COSV99452058&COSV99452058&COSV99452058&COSV99452058;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=0.246 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,23:145:0.15862:65:-100:0.1808:3,10,1,4,4,1,27,54,12,22,10,20:100:100 +9 87490760 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*4028C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490760C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.532 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,8:144:0.05556:65:-100:0.0943:0,3,1,2,0,2,20,59,15,22,8,20:100:100 +9 87490760 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+8414C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87490760C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.532 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,8:144:0.05556:65:-100:0.0943:0,3,1,2,0,2,20,59,15,22,8,20:100:100 +9 87491253 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*4521C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87491253C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12121;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.392774;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452061&COSV99452061&COSV99452061&COSV99452061&COSV99452061&COSV99452061;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.753 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,45:127:0.35433:65:-100:0.1181:5,18,6,6,2,8,16,42,14,23,9,23:100:100 +9 87491253 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+8907C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87491253C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12121;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.392774;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452061&COSV99452061&COSV99452061&COSV99452061&COSV99452061&COSV99452061;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=2.753 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,45:127:0.35433:65:-100:0.1181:5,18,6,6,2,8,16,42,14,23,9,23:100:100 +9 87491480 . A C 100 PASS DP=113;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*4748A>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87491480A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5444;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.175976;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452062&COSV99452062&COSV99452062&COSV99452062&COSV99452062&COSV99452062;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,21:113:0.18584:65:-100:0.124:2,8,0,4,1,6,19,43,5,22,9,15:100:100 +9 87491480 . A C 100 PASS DP=113;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+9134A>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87491480A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5444;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.175976;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452062&COSV99452062&COSV99452062&COSV99452062&COSV99452062&COSV99452062;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=1.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,21:113:0.18584:65:-100:0.124:2,8,0,4,1,6,19,43,5,22,9,15:100:100 +9 87492018 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*5286C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=157;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.00506713;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,21:133:0.15789:65:-100:0.1307:2,3,4,4,1,7,22,51,14,16,4,26:100:100 +9 87492018 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+9672C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=157;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=0.00506713;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,21:133:0.15789:65:-100:0.1307:2,3,4,4,1,7,22,51,14,16,4,26:100:100 +9 87492028 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*5296T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492028T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8747;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.282836;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452063&COSV99452063&COSV99452063&COSV99452063&COSV99452063&COSV99452063;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,56:127:0.44094:65:-100:0.1119:10,15,6,10,1,14,19,46,14,19,3,26:100:100 +9 87492028 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+9682T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492028T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8747;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.282836;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452063&COSV99452063&COSV99452063&COSV99452063&COSV99452063&COSV99452063;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=1.153 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,56:127:0.44094:65:-100:0.1119:10,15,6,10,1,14,19,46,14,19,3,26:100:100 +9 87492264 . G T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*5532G>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492264G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.0020984;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,6:132:0.04545:65:-95.9852:0.1429:0,2,0,2,0,2,25,40,10,24,7,26:62.896:100 +9 87492264 . G T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+9918G>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492264G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.0020984;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,6:132:0.04545:65:-95.9852:0.1429:0,2,0,2,0,2,25,40,10,24,7,26:62.896:100 +9 87492385 . G C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*5653G>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492385G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,6:130:0.04615:65:-46.5491:0.1447:0,2,1,2,0,1,15,51,11,19,5,29:62.849:100 +9 87492385 . G C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+10039G>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492385G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.863 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,6:130:0.04615:65:-46.5491:0.1447:0,2,1,2,0,1,15,51,11,19,5,29:62.849:100 +9 87492610 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001018066.3;CSQ_HGVSc=NM_001018066.3:c.*5878C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492610C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5416;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.175082;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452064&COSV99452064&COSV99452064&COSV99452064&COSV99452064&COSV99452064;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.222 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,27:142:0.19014:65:-100:0.1341:3,8,0,6,6,4,17,51,12,26,14,22:100:100 +9 87492610 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=NTRK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/18;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1633+10264C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87492610C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5416;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.175082;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV99452064&COSV99452064&COSV99452064&COSV99452064&COSV99452064&COSV99452064;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR&NTRK2:F373int&NTRK2:F373intd&NTRK2:F389int&NTRK2:F389intd&NTRK2:F517int&NTRK2:F517intd&NTRK2:F529int&NTRK2:F529intd&NTRK2:F545int&NTRK2:F545intd;CSQ_CADD_PHRED=3.222 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,27:142:0.19014:65:-100:0.1341:3,8,0,6,6,4,17,51,12,26,14,22:100:100 +9 87563460 . C A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/19;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.1848C>A;CSQ_HGVSp=NP_006171.2:p.Ile616%3D;CSQ_HGVSg=9:g.87563460C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1268912;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1230;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0397492;CSQ_gnomADe_AC=12012;CSQ_gnomADe_AN=246164;CSQ_gnomADe_AF=0.0487967;CSQ_gnomADe_Hom=427;CSQ_COSMICcMuts=COSV52855698&COSV52855698&COSV52855698&COSV52855698;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:I444I&NTRK2:I460I&NTRK2:I588I&NTRK2:I600I&NTRK2:I616I;CSQ_CADD_PHRED=7.804 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,7:138:0.05072:65:-95.9852:0.1585:1,4,0,1,0,1,27,49,10,25,11,16:70.088:100 +9 87637578 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.*1226G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87637578G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3533;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.114152;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR;CSQ_CADD_PHRED=14.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,23:165:0.13939:65:-100:0.1832:5,9,1,3,0,5,32,55,10,30,10,28:100:100 +9 87638363 . G A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.*2011G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87638363G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.862 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,14:134:0.10448:65:-100:0.0884:2,2,1,6,1,2,17,46,9,27,13,22:100:100 +9 87638506 . T A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.*2154T>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87638506T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22313;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.72379;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR;CSQ_CADD_PHRED=0.528 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:23,103:126:0.81746:65:-100:0.137:16,25,10,26,13,13,19,35,13,28,13,18:100:100 +9 87639472 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.*3120T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87639472T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17060;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.552247;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR;CSQ_CADD_PHRED=6.376 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,87:133:0.65414:65:-100:0.1133:16,24,9,17,6,15,23,41,16,22,7,24:100:100 +9 87639848 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.*3496A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87639848A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16376;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.530002;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR;CSQ_CADD_PHRED=19.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,91:125:0.728:65:-100:0.1379:8,36,11,19,5,12,15,52,14,22,5,17:100:100 +9 87640636 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=NTRK2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_006180.6;CSQ_HGVSc=NM_006180.6:c.*4284A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.87640636A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14441;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.467922;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK2:3UTR;CSQ_CADD_PHRED=0.026 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,72:134:0.53731:65:-100:0.1126:14,29,4,10,2,13,25,46,11,20,5,27:100:100 +9 93606309 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/13;CSQ_INTRON=.;CSQ_Feature=NM_001135052.4;CSQ_HGVSc=NM_001135052.4:c.129G>A;CSQ_HGVSp=NP_001128524.1:p.Gln43%3D;CSQ_HGVSg=9:g.93606309G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4755;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.153714;CSQ_gnomADe_AC=38364;CSQ_gnomADe_AN=241782;CSQ_gnomADe_AF=0.158672;CSQ_gnomADe_Hom=3489;CSQ_COSMICcMuts=COSV65327289&COSV65327289&COSV65327289&COSV65327289;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:Q43Q;CSQ_CADD_PHRED=11.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,8:130:0.06154:65:-100:0.1558:3,3,1,0,1,0,25,41,16,17,10,21:60.747:100 +9 93606309 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/14;CSQ_INTRON=.;CSQ_Feature=NM_003177.7;CSQ_HGVSc=NM_003177.7:c.129G>A;CSQ_HGVSp=NP_003168.2:p.Gln43%3D;CSQ_HGVSg=9:g.93606309G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4755;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.153714;CSQ_gnomADe_AC=38364;CSQ_gnomADe_AN=241782;CSQ_gnomADe_AF=0.158672;CSQ_gnomADe_Hom=3489;CSQ_COSMICcMuts=COSV65327289&COSV65327289&COSV65327289&COSV65327289;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:Q43Q;CSQ_CADD_PHRED=11.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,8:130:0.06154:65:-100:0.1558:3,3,1,0,1,0,25,41,16,17,10,21:60.747:100 +9 93606469 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=SYK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/13;CSQ_INTRON=.;CSQ_Feature=NM_001135052.4;CSQ_HGVSc=NM_001135052.4:c.289G>A;CSQ_HGVSp=NP_001128524.1:p.Asp97Asn;CSQ_HGVSg=9:g.93606469G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.161;CSQ_Mastermind_MMID3=SYK:D97N;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,12:150:0.08:65:-100:0.1667:2,2,0,5,1,2,19,56,12,33,11,19:100:100 +9 93606469 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=SYK;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/14;CSQ_INTRON=.;CSQ_Feature=NM_003177.7;CSQ_HGVSc=NM_003177.7:c.289G>A;CSQ_HGVSp=NP_003168.2:p.Asp97Asn;CSQ_HGVSg=9:g.93606469G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.161;CSQ_Mastermind_MMID3=SYK:D97N;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,12:150:0.08:65:-100:0.1667:2,2,0,5,1,2,19,56,12,33,11,19:100:100 +9 93637015 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/13;CSQ_INTRON=.;CSQ_Feature=NM_001135052.4;CSQ_HGVSc=NM_001135052.4:c.996C>T;CSQ_HGVSp=NP_001128524.1:p.Pro332%3D;CSQ_HGVSg=9:g.93637015C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5566;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.180141;CSQ_gnomADe_AC=47632;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.193459;CSQ_gnomADe_Hom=5981;CSQ_COSMICcMuts=COSV65324914&COSV65324914&COSV65324914&COSV65324914;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:P332P&SYK:P355P;CSQ_CADD_PHRED=1.560 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,6:123:0.04878:65:-47.2915:0.1214:1,0,0,2,2,1,19,38,7,26,11,22:65.068:100 +9 93637015 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/14;CSQ_INTRON=.;CSQ_Feature=NM_003177.7;CSQ_HGVSc=NM_003177.7:c.1065C>T;CSQ_HGVSp=NP_003168.2:p.Pro355%3D;CSQ_HGVSg=9:g.93637015C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5566;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.180141;CSQ_gnomADe_AC=47632;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.193459;CSQ_gnomADe_Hom=5981;CSQ_COSMICcMuts=COSV65324914&COSV65324914&COSV65324914&COSV65324914;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:P332P&SYK:P355P;CSQ_CADD_PHRED=1.560 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,6:123:0.04878:65:-47.2915:0.1214:1,0,0,2,2,1,19,38,7,26,11,22:65.068:100 +9 93639973 . G C 100 PASS DP=176;CSQ_Allele=C;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001135052.4;CSQ_HGVSc=NM_001135052.4:c.1233G>C;CSQ_HGVSp=NP_001128524.1:p.Arg411%3D;CSQ_HGVSg=9:g.93639973G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5612;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.181243;CSQ_gnomADe_AC=47673;CSQ_gnomADe_AN=246240;CSQ_gnomADe_AF=0.193604;CSQ_gnomADe_Hom=5982;CSQ_COSMICcMuts=COSV65324924&COSV65324924&COSV65324924&COSV65324924;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:R411R&SYK:R434R;CSQ_CADD_PHRED=9.925 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,13:176:0.07386:65:-100:0.1373:0,5,1,3,2,2,30,62,15,31,12,26:100:100 +9 93639973 . G C 100 PASS DP=176;CSQ_Allele=C;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/14;CSQ_INTRON=.;CSQ_Feature=NM_003177.7;CSQ_HGVSc=NM_003177.7:c.1302G>C;CSQ_HGVSp=NP_003168.2:p.Arg434%3D;CSQ_HGVSg=9:g.93639973G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5612;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.181243;CSQ_gnomADe_AC=47673;CSQ_gnomADe_AN=246240;CSQ_gnomADe_AF=0.193604;CSQ_gnomADe_Hom=5982;CSQ_COSMICcMuts=COSV65324924&COSV65324924&COSV65324924&COSV65324924;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:R411R&SYK:R434R;CSQ_CADD_PHRED=9.925 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,13:176:0.07386:65:-100:0.1373:0,5,1,3,2,2,30,62,15,31,12,26:100:100 +9 93640009 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001135052.4;CSQ_HGVSc=NM_001135052.4:c.1269G>A;CSQ_HGVSp=NP_001128524.1:p.Leu423%3D;CSQ_HGVSg=9:g.93640009G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5593;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.180711;CSQ_gnomADe_AC=47656;CSQ_gnomADe_AN=246248;CSQ_gnomADe_AF=0.193528;CSQ_gnomADe_Hom=5986;CSQ_COSMICcMuts=COSV65324932&COSV65324932&COSV65324932&COSV65324932;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:L423L&SYK:L446L;CSQ_CADD_PHRED=11.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,9:171:0.05263:65:-100:0.1094:0,5,1,0,0,3,24,65,13,31,9,29:94.211:100 +9 93640009 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/14;CSQ_INTRON=.;CSQ_Feature=NM_003177.7;CSQ_HGVSc=NM_003177.7:c.1338G>A;CSQ_HGVSp=NP_003168.2:p.Leu446%3D;CSQ_HGVSg=9:g.93640009G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5593;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.180711;CSQ_gnomADe_AC=47656;CSQ_gnomADe_AN=246248;CSQ_gnomADe_AF=0.193528;CSQ_gnomADe_Hom=5986;CSQ_COSMICcMuts=COSV65324932&COSV65324932&COSV65324932&COSV65324932;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:L423L&SYK:L446L;CSQ_CADD_PHRED=11.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,9:171:0.05263:65:-100:0.1094:0,5,1,0,0,3,24,65,13,31,9,29:94.211:100 +9 93641175 . C T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/13;CSQ_INTRON=.;CSQ_Feature=NM_001135052.4;CSQ_HGVSc=NM_001135052.4:c.1452C>T;CSQ_HGVSp=NP_001128524.1:p.Tyr484%3D;CSQ_HGVSg=9:g.93641175C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5697;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.184107;CSQ_gnomADe_AC=47865;CSQ_gnomADe_AN=246174;CSQ_gnomADe_AF=0.194436;CSQ_gnomADe_Hom=6033;CSQ_COSMICcMuts=COSV65324938&COSV65324938&COSV65324938&COSV65324938;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:Y484Y&SYK:Y507Y;CSQ_CADD_PHRED=5.285 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,8:124:0.06452:65:-100:0.1143:1,2,0,2,1,2,17,45,8,27,6,21:85.388:100 +9 93641175 . C T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/14;CSQ_INTRON=.;CSQ_Feature=NM_003177.7;CSQ_HGVSc=NM_003177.7:c.1521C>T;CSQ_HGVSp=NP_003168.2:p.Tyr507%3D;CSQ_HGVSg=9:g.93641175C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5697;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.184107;CSQ_gnomADe_AC=47865;CSQ_gnomADe_AN=246174;CSQ_gnomADe_AF=0.194436;CSQ_gnomADe_Hom=6033;CSQ_COSMICcMuts=COSV65324938&COSV65324938&COSV65324938&COSV65324938;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SYK:Y484Y&SYK:Y507Y;CSQ_CADD_PHRED=5.285 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,8:124:0.06452:65:-100:0.1143:1,2,0,2,1,2,17,45,8,27,6,21:85.388:100 +9 93657837 . A T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001135052.4;CSQ_HGVSc=NM_001135052.4:c.1794A>T;CSQ_HGVSp=NP_001128524.1:p.Ala598%3D;CSQ_HGVSg=9:g.93657837A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.000968304;CSQ_gnomADe_AC=282;CSQ_gnomADe_AN=245980;CSQ_gnomADe_AF=0.00114643;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.473 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,29:181:0.16022:65:-100:0.1084:6,5,4,4,5,5,35,57,17,28,15,29:100:100 +9 93657837 . A T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=SYK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_003177.7;CSQ_HGVSc=NM_003177.7:c.1863A>T;CSQ_HGVSp=NP_003168.2:p.Ala621%3D;CSQ_HGVSg=9:g.93657837A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.000968304;CSQ_gnomADe_AC=282;CSQ_gnomADe_AN=245980;CSQ_gnomADe_AF=0.00114643;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.473 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,29:181:0.16022:65:-100:0.1084:6,5,4,4,5,5,35,57,17,28,15,29:100:100 +9 97873554 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=FANCC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_000136.3;CSQ_HGVSc=NM_000136.3:c.1329+191C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.97873554G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,10:151:0.06623:65:-100:0.1611:1,1,2,3,0,3,22,55,14,23,17,20:100:100 +9 97873554 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=FANCC;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001243743.2;CSQ_HGVSc=NM_001243743.2:c.1329+191C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.97873554G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,10:151:0.06623:65:-100:0.1611:1,1,2,3,0,3,22,55,14,23,17,20:100:100 +9 97873554 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=FANCC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001243744.2;CSQ_HGVSc=NM_001243744.2:c.1403C>T;CSQ_HGVSp=NP_001230673.1:p.Thr468Ile;CSQ_HGVSg=9:g.97873554G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCC:T468I;CSQ_CADD_PHRED=3.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,10:151:0.06623:65:-100:0.1611:1,1,2,3,0,3,22,55,14,23,17,20:100:100 +9 98209594 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=PTCH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/24;CSQ_INTRON=.;CSQ_Feature=NM_000264.5;CSQ_HGVSc=NM_000264.5:c.3944C>T;CSQ_HGVSp=NP_000255.2:p.Pro1315Leu;CSQ_HGVSg=9:g.98209594G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41663;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10342;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.335496;CSQ_gnomADe_AC=94062;CSQ_gnomADe_AN=241898;CSQ_gnomADe_AF=0.38885;CSQ_gnomADe_Hom=19289;CSQ_COSMICcMuts=COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.443;CSQ_Mastermind_MMID3=PTCH1:P1164L&PTCH1:P1249L&PTCH1:P1263L&PTCH1:P1314L&PTCH1:P1315L;CSQ_CADD_PHRED=24.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,75:149:0.50336:65:-100:0.2158:11,29,4,14,2,15,24,51,12,27,6,29:100:100 +9 98209594 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=PTCH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/24;CSQ_INTRON=.;CSQ_Feature=NM_001083606.3;CSQ_HGVSc=NM_001083606.3:c.3491C>T;CSQ_HGVSp=NP_001077075.1:p.Pro1164Leu;CSQ_HGVSg=9:g.98209594G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41663;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10342;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.335496;CSQ_gnomADe_AC=94062;CSQ_gnomADe_AN=241898;CSQ_gnomADe_AF=0.38885;CSQ_gnomADe_Hom=19289;CSQ_COSMICcMuts=COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.443;CSQ_Mastermind_MMID3=PTCH1:P1164L&PTCH1:P1249L&PTCH1:P1263L&PTCH1:P1314L&PTCH1:P1315L;CSQ_CADD_PHRED=24.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,75:149:0.50336:65:-100:0.2158:11,29,4,14,2,15,24,51,12,27,6,29:100:100 +9 98209594 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=PTCH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/24;CSQ_INTRON=.;CSQ_Feature=NM_001083607.3;CSQ_HGVSc=NM_001083607.3:c.3491C>T;CSQ_HGVSp=NP_001077076.1:p.Pro1164Leu;CSQ_HGVSg=9:g.98209594G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41663;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10342;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.335496;CSQ_gnomADe_AC=94062;CSQ_gnomADe_AN=241898;CSQ_gnomADe_AF=0.38885;CSQ_gnomADe_Hom=19289;CSQ_COSMICcMuts=COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357&COSV59463357;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.443;CSQ_Mastermind_MMID3=PTCH1:P1164L&PTCH1:P1249L&PTCH1:P1263L&PTCH1:P1314L&PTCH1:P1315L;CSQ_CADD_PHRED=24.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,75:149:0.50336:65:-100:0.2158:11,29,4,14,2,15,24,51,12,27,6,29:100:100 +9 98211548 . TG T 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=PTCH1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=22/24;CSQ_INTRON=.;CSQ_Feature=NM_000264.5;CSQ_HGVSc=NM_000264.5:c.3606del;CSQ_HGVSp=NP_000255.2:p.Ser1203AlafsTer52;CSQ_HGVSg=9:g.98211554del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,10:155:0.06452:65:-100:0:4,3,0,1,1,1,24,66,9,24,7,25:100:100 +9 98211548 . TG T 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=PTCH1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=22/24;CSQ_INTRON=.;CSQ_Feature=NM_001083606.3;CSQ_HGVSc=NM_001083606.3:c.3153del;CSQ_HGVSp=NP_001077075.1:p.Ser1052AlafsTer52;CSQ_HGVSg=9:g.98211554del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,10:155:0.06452:65:-100:0:4,3,0,1,1,1,24,66,9,24,7,25:100:100 +9 98211548 . TG T 100 PASS DP=155;CSQ_Allele=-;CSQ_SYMBOL=PTCH1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=22/24;CSQ_INTRON=.;CSQ_Feature=NM_001083607.3;CSQ_HGVSc=NM_001083607.3:c.3153del;CSQ_HGVSp=NP_001077076.1:p.Ser1052AlafsTer52;CSQ_HGVSg=9:g.98211554del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558&COSV59461558;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,10:155:0.06452:65:-100:0:4,3,0,1,1,1,24,66,9,24,7,25:100:100 +9 98238358 . G A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=PTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_000264.5;CSQ_HGVSc=NM_000264.5:c.1686C>T;CSQ_HGVSp=NP_000255.2:p.Ala562%3D;CSQ_HGVSg=9:g.98238358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5077;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.164357;CSQ_gnomADe_AC=42313;CSQ_gnomADe_AN=245316;CSQ_gnomADe_AF=0.172484;CSQ_gnomADe_Hom=4250;CSQ_COSMICcMuts=COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212;CSQ_COSMICncMuts=COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTCH1:A411A&PTCH1:A496A&PTCH1:A510A&PTCH1:A561A&PTCH1:A562A;CSQ_CADD_PHRED=0.878 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,7:170:0.04118:65:-95.2806:0.1099:2,2,1,2,0,0,24,62,16,30,7,31:65.734:100 +9 98238358 . G A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=PTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_001083606.3;CSQ_HGVSc=NM_001083606.3:c.1233C>T;CSQ_HGVSp=NP_001077075.1:p.Ala411%3D;CSQ_HGVSg=9:g.98238358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5077;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.164357;CSQ_gnomADe_AC=42313;CSQ_gnomADe_AN=245316;CSQ_gnomADe_AF=0.172484;CSQ_gnomADe_Hom=4250;CSQ_COSMICcMuts=COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212;CSQ_COSMICncMuts=COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTCH1:A411A&PTCH1:A496A&PTCH1:A510A&PTCH1:A561A&PTCH1:A562A;CSQ_CADD_PHRED=0.878 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,7:170:0.04118:65:-95.2806:0.1099:2,2,1,2,0,0,24,62,16,30,7,31:65.734:100 +9 98238358 . G A 100 PASS DP=170;CSQ_Allele=A;CSQ_SYMBOL=PTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_001083607.3;CSQ_HGVSc=NM_001083607.3:c.1233C>T;CSQ_HGVSp=NP_001077076.1:p.Ala411%3D;CSQ_HGVSg=9:g.98238358G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5077;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.164357;CSQ_gnomADe_AC=42313;CSQ_gnomADe_AN=245316;CSQ_gnomADe_AF=0.172484;CSQ_gnomADe_Hom=4250;CSQ_COSMICcMuts=COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212;CSQ_COSMICncMuts=COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212&COSV59461212;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTCH1:A411A&PTCH1:A496A&PTCH1:A510A&PTCH1:A561A&PTCH1:A562A;CSQ_CADD_PHRED=0.878 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,7:170:0.04118:65:-95.2806:0.1099:2,2,1,2,0,0,24,62,16,30,7,31:65.734:100 +9 98238379 . A G 100 PASS DP=176;CSQ_Allele=G;CSQ_SYMBOL=PTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_000264.5;CSQ_HGVSc=NM_000264.5:c.1665T>C;CSQ_HGVSp=NP_000255.2:p.Asn555%3D;CSQ_HGVSg=9:g.98238379A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=138834;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4124;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.133471;CSQ_gnomADe_AC=24285;CSQ_gnomADe_AN=245182;CSQ_gnomADe_AF=0.0990489;CSQ_gnomADe_Hom=1347;CSQ_COSMICcMuts=COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424;CSQ_COSMICncMuts=COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTCH1:N404N&PTCH1:N489N&PTCH1:N503N&PTCH1:N554N&PTCH1:N555N;CSQ_CADD_PHRED=8.904 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,31:176:0.17614:65:-100:0.1415:10,7,4,4,1,5,28,65,14,34,10,25:100:100 +9 98238379 . A G 100 PASS DP=176;CSQ_Allele=G;CSQ_SYMBOL=PTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_001083606.3;CSQ_HGVSc=NM_001083606.3:c.1212T>C;CSQ_HGVSp=NP_001077075.1:p.Asn404%3D;CSQ_HGVSg=9:g.98238379A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=138834;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4124;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.133471;CSQ_gnomADe_AC=24285;CSQ_gnomADe_AN=245182;CSQ_gnomADe_AF=0.0990489;CSQ_gnomADe_Hom=1347;CSQ_COSMICcMuts=COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424;CSQ_COSMICncMuts=COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTCH1:N404N&PTCH1:N489N&PTCH1:N503N&PTCH1:N554N&PTCH1:N555N;CSQ_CADD_PHRED=8.904 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,31:176:0.17614:65:-100:0.1415:10,7,4,4,1,5,28,65,14,34,10,25:100:100 +9 98238379 . A G 100 PASS DP=176;CSQ_Allele=G;CSQ_SYMBOL=PTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_001083607.3;CSQ_HGVSc=NM_001083607.3:c.1212T>C;CSQ_HGVSp=NP_001077076.1:p.Asn404%3D;CSQ_HGVSg=9:g.98238379A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=138834;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Gorlin_syndrome&Holoprosencephaly_7&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4124;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.133471;CSQ_gnomADe_AC=24285;CSQ_gnomADe_AN=245182;CSQ_gnomADe_AF=0.0990489;CSQ_gnomADe_Hom=1347;CSQ_COSMICcMuts=COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424;CSQ_COSMICncMuts=COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424&COSV59464424;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTCH1:N404N&PTCH1:N489N&PTCH1:N503N&PTCH1:N554N&PTCH1:N555N;CSQ_CADD_PHRED=8.904 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,31:176:0.17614:65:-100:0.1415:10,7,4,4,1,5,28,65,14,34,10,25:100:100 +9 98269418 . CG C 100 PASS DP=145;CSQ_Allele=-;CSQ_SYMBOL=PTCH1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/23;CSQ_Feature=NM_000264.5;CSQ_HGVSc=NM_000264.5:c.202-538del;CSQ_HGVSp=.;CSQ_HGVSg=9:g.98269420del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7862;CSQ_gnomADg_AN=30818;CSQ_gnomADg_AF=0.255111;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTCH1:5UTR&PTCH1:K66int&PTCH1:K67int&PTCH1:M1int;CSQ_CADD_PHRED=9.711 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,56:145:0.38621:65:-100:0:5,20,5,8,8,10,17,55,11,16,21,25:100:100 +9 98269418 . CG C 100 PASS DP=145;CSQ_Allele=-;CSQ_SYMBOL=PTCH1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/23;CSQ_Feature=NM_001083606.3;CSQ_HGVSc=NM_001083606.3:c.-253+92del;CSQ_HGVSp=.;CSQ_HGVSg=9:g.98269420del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7862;CSQ_gnomADg_AN=30818;CSQ_gnomADg_AF=0.255111;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTCH1:5UTR&PTCH1:K66int&PTCH1:K67int&PTCH1:M1int;CSQ_CADD_PHRED=9.711 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,56:145:0.38621:65:-100:0:5,20,5,8,8,10,17,55,11,16,21,25:100:100 +9 98269418 . CG C 100 PASS DP=145;CSQ_Allele=-;CSQ_SYMBOL=PTCH1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/24;CSQ_INTRON=.;CSQ_Feature=NM_001083607.3;CSQ_HGVSc=NM_001083607.3:c.-453del;CSQ_HGVSp=.;CSQ_HGVSg=9:g.98269420del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7862;CSQ_gnomADg_AN=30818;CSQ_gnomADg_AF=0.255111;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.711 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,56:145:0.38621:65:-100:0:5,20,5,8,8,10,17,55,11,16,21,25:100:100 +9 110249505 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=KLF4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_004235.6;CSQ_HGVSc=NM_004235.6:c.1100-32G>A;CSQ_HGVSp=.;CSQ_HGVSg=9:g.110249505C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4943;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.160071;CSQ_gnomADe_AC=44323;CSQ_gnomADe_AN=241532;CSQ_gnomADe_AF=0.183508;CSQ_gnomADe_Hom=4652;CSQ_COSMICcMuts=COSV65928618;CSQ_COSMICncMuts=COSV65928618&COSV65928618;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KLF4:E367int&KLF4:E367inta&KLF4:G390G;CSQ_CADD_PHRED=7.197 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,26:142:0.1831:65:-100:0.1497:3,14,3,2,1,3,22,55,11,27,9,18:100:100 +9 110249635 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=KLF4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/5;CSQ_INTRON=.;CSQ_Feature=NM_004235.6;CSQ_HGVSc=NM_004235.6:c.1040A>G;CSQ_HGVSp=NP_004226.3:p.Asn347Ser;CSQ_HGVSg=9:g.110249635T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65929185;CSQ_COSMICncMuts=COSV65929185&COSV65929185;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=0.044;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,10:128:0.07813:65:-100:0.1579:1,3,0,5,0,1,20,54,17,15,5,17:100:100 +9 127951863 . G A 100 PASS DP=74;CSQ_Allele=A;CSQ_SYMBOL=PPP6C;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_001123355.2;CSQ_HGVSc=NM_001123355.2:c.135C>T;CSQ_HGVSp=NP_001116827.1:p.Phe45%3D;CSQ_HGVSg=9:g.127951863G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13399;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.435117;CSQ_gnomADe_AC=92533;CSQ_gnomADe_AN=226870;CSQ_gnomADe_AF=0.407868;CSQ_gnomADe_Hom=20001;CSQ_COSMICcMuts=COSV65206996&COSV65206996&COSV65206996&COSV65206996;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPP6C:F45F&PPP6C:K25int&PPP6C:K25intd;CSQ_CADD_PHRED=12.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,45:74:0.60811:65:-100:0.1494:9,13,6,7,3,7,16,16,11,10,10,11:100:100 +9 127951863 . G A 100 PASS DP=74;CSQ_Allele=A;CSQ_SYMBOL=PPP6C;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/5;CSQ_Feature=NM_001123369.2;CSQ_HGVSc=NM_001123369.2:c.75+60C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.127951863G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13399;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.435117;CSQ_gnomADe_AC=92533;CSQ_gnomADe_AN=226870;CSQ_gnomADe_AF=0.407868;CSQ_gnomADe_Hom=20001;CSQ_COSMICcMuts=COSV65206996&COSV65206996&COSV65206996&COSV65206996;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PPP6C:F45F&PPP6C:K25int&PPP6C:K25intd;CSQ_CADD_PHRED=12.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,45:74:0.60811:65:-100:0.1494:9,13,6,7,3,7,16,16,11,10,10,11:100:100 +9 133589309 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.-398A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133589309A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1326;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0428156;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:5UTR;CSQ_CADD_PHRED=8.477 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,48:166:0.28916:65:-100:0.1309:9,19,5,7,4,4,24,62,16,26,13,25:100:100 +9 133710804 . T C 100 PASS DP=31;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.-30T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133710804T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26359;CSQ_gnomADg_AN=26606;CSQ_gnomADg_AF=0.990716;CSQ_gnomADe_AC=143006;CSQ_gnomADe_AN=144330;CSQ_gnomADe_AF=0.990827;CSQ_gnomADe_Hom=70845;CSQ_COSMICcMuts=COSV100583376&COSV100583376;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.917 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,31:31:1:65:-100:0.1622:4,15,2,1,4,5,4,15,2,1,4,5:100:100 +9 133710804 . T C 100 PASS DP=31;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.137-18647T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133710804T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26359;CSQ_gnomADg_AN=26606;CSQ_gnomADg_AF=0.990716;CSQ_gnomADe_AC=143006;CSQ_gnomADe_AN=144330;CSQ_gnomADe_AF=0.990827;CSQ_gnomADe_Hom=70845;CSQ_COSMICcMuts=COSV100583376&COSV100583376;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:5UTR&ABL1:E46int&ABL1:E46inta;CSQ_CADD_PHRED=5.917 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,31:31:1:65:-100:0.1622:4,15,2,1,4,5,4,15,2,1,4,5:100:100 +9 133710819 . T TC 100 PASS DP=43;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.-15_-14insC;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133710819_133710820insC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27896;CSQ_gnomADg_AN=27896;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=149945;CSQ_gnomADe_AN=149950;CSQ_gnomADe_AF=0.999967;CSQ_gnomADe_Hom=74972;CSQ_COSMICcMuts=COSV100583377&COSV100583377;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.821 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,43:43:1:65:-100:0:10,13,4,2,7,7,9,14,5,1,7,7:100:100 +9 133710819 . T TC 100 PASS DP=43;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.137-18632_137-18631insC;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133710819_133710820insC;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27896;CSQ_gnomADg_AN=27896;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=149945;CSQ_gnomADe_AN=149950;CSQ_gnomADe_AF=0.999967;CSQ_gnomADe_Hom=74972;CSQ_COSMICcMuts=COSV100583377&COSV100583377;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:5UTR&ABL1:E46int&ABL1:E46inta;CSQ_CADD_PHRED=8.821 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,43:43:1:65:-100:0:10,13,4,2,7,7,9,14,5,1,7,7:100:100 +9 133738370 . A G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.770A>G;CSQ_HGVSp=NP_005148.2:p.Tyr257Cys;CSQ_HGVSg=9:g.133738370A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59324158&COSV59324158;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.788;CSQ_Mastermind_MMID3=ABL1:Y257C&ABL1:Y276C;CSQ_CADD_PHRED=29.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,10:136:0.07353:65:-100:0.15:0,2,2,1,1,4,17,41,14,26,13,25:100:100 +9 133738370 . A G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.827A>G;CSQ_HGVSp=NP_009297.2:p.Tyr276Cys;CSQ_HGVSg=9:g.133738370A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59324158&COSV59324158;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.788;CSQ_Mastermind_MMID3=ABL1:Y257C&ABL1:Y276C;CSQ_CADD_PHRED=29.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,10:136:0.07353:65:-100:0.15:0,2,2,1,1,4,17,41,14,26,13,25:100:100 +9 133760617 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=ABL1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.2940C>T;CSQ_HGVSp=NP_005148.2:p.Pro980%3D;CSQ_HGVSg=9:g.133760617C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1244779;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1235;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0398979;CSQ_gnomADe_AC=7992;CSQ_gnomADe_AN=245550;CSQ_gnomADe_AF=0.0325473;CSQ_gnomADe_Hom=212;CSQ_COSMICcMuts=COSV59334828&COSV59334828;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:P980P&ABL1:P999P;CSQ_CADD_PHRED=0.024 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,29:181:0.16022:65:-100:0.1422:5,12,0,2,7,3,26,70,7,26,24,28:100:100 +9 133760617 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=ABL1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.2997C>T;CSQ_HGVSp=NP_009297.2:p.Pro999%3D;CSQ_HGVSg=9:g.133760617C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1244779;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1235;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0398979;CSQ_gnomADe_AC=7992;CSQ_gnomADe_AN=245550;CSQ_gnomADe_AF=0.0325473;CSQ_gnomADe_Hom=212;CSQ_COSMICcMuts=COSV59334828&COSV59334828;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:P980P&ABL1:P999P;CSQ_CADD_PHRED=0.024 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,29:181:0.16022:65:-100:0.1422:5,12,0,2,7,3,26,70,7,26,24,28:100:100 +9 133761001 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.3324A>G;CSQ_HGVSp=NP_005148.2:p.Pro1108%3D;CSQ_HGVSg=9:g.133761001A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1301303;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=18265;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.591062;CSQ_gnomADe_AC=134979;CSQ_gnomADe_AN=245626;CSQ_gnomADe_AF=0.549531;CSQ_gnomADe_Hom=38686;CSQ_COSMICcMuts=COSV59323964&COSV59323964;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:P1108P&ABL1:P1127P;CSQ_CADD_PHRED=5.584 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,88:150:0.58667:65:-100:0.1979:14,34,7,12,5,16,25,58,10,25,7,25:100:100 +9 133761001 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.3381A>G;CSQ_HGVSp=NP_009297.2:p.Pro1127%3D;CSQ_HGVSg=9:g.133761001A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1301303;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=18265;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.591062;CSQ_gnomADe_AC=134979;CSQ_gnomADe_AN=245626;CSQ_gnomADe_AF=0.549531;CSQ_gnomADe_Hom=38686;CSQ_COSMICcMuts=COSV59323964&COSV59323964;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:P1108P&ABL1:P1127P;CSQ_CADD_PHRED=5.584 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,88:150:0.58667:65:-100:0.1979:14,34,7,12,5,16,25,58,10,25,7,25:100:100 +9 133761883 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.*813T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133761883T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2150;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0695118;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=7.490 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,6:141:0.04255:65:-100:0.1754:0,2,0,2,2,0,22,54,9,24,13,19:66.749:100 +9 133761883 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.*813T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133761883T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2150;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0695118;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=7.490 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,6:141:0.04255:65:-100:0.1754:0,2,0,2,2,0,22,54,9,24,13,19:66.749:100 +9 133761992 . G C 100 PASS DP=166;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.*922G>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133761992G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3177;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.102782;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=8.551 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,7:166:0.04217:65:-100:0.0726:0,3,0,2,0,2,23,68,11,27,9,28:70.794:100 +9 133761992 . G C 100 PASS DP=166;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.*922G>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133761992G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3177;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.102782;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=8.551 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,7:166:0.04217:65:-100:0.0726:0,3,0,2,0,2,23,68,11,27,9,28:70.794:100 +9 133762004 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.*934C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762004C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.398 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,13:164:0.07927:65:-100:0.0889:3,4,0,2,1,3,29,59,10,29,10,27:100:100 +9 133762004 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.*934C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762004C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.398 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,13:164:0.07927:65:-100:0.0889:3,4,0,2,1,3,29,59,10,29,10,27:100:100 +9 133762119 . C G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.*1049C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762119C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=616;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0199031;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=3.208 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,37:168:0.22024:65:-100:0.1385:6,8,4,7,3,9,31,56,13,22,10,36:100:100 +9 133762119 . C G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.*1049C>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762119C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=616;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0199031;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=3.208 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,37:168:0.22024:65:-100:0.1385:6,8,4,7,3,9,31,56,13,22,10,36:100:100 +9 133762494 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.*1424C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762494C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=615;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0198733;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=0.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,37:142:0.26056:65:-100:0.1497:5,11,1,7,7,6,24,39,8,34,12,25:100:100 +9 133762494 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.*1424C>T;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762494C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=615;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0198733;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=0.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,37:142:0.26056:65:-100:0.1497:5,11,1,7,7,6,24,39,8,34,12,25:100:100 +9 133762553 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.*1483A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762553A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10365;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.336089;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=4.207 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,57:153:0.37255:65:-100:0.1404:11,15,6,7,9,9,27,46,16,23,17,24:100:100 +9 133762553 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.*1483A>G;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762553A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10365;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.336089;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=4.207 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,57:153:0.37255:65:-100:0.1404:11,15,6,7,9,9,27,46,16,23,17,24:100:100 +9 133762558 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005157.6;CSQ_HGVSc=NM_005157.6:c.*1488T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762558T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5884;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.190482;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59327992;CSQ_COSMICncMuts=COSV59327992;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=4.089 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,17:152:0.11184:65:-100:0.1461:1,6,5,1,1,3,25,46,15,25,15,26:100:100 +9 133762558 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ABL1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_007313.2;CSQ_HGVSc=NM_007313.2:c.*1488T>C;CSQ_HGVSp=.;CSQ_HGVSg=9:g.133762558T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5884;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.190482;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59327992;CSQ_COSMICncMuts=COSV59327992;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ABL1:3UTR;CSQ_CADD_PHRED=4.089 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,17:152:0.11184:65:-100:0.1461:1,6,5,1,1,3,25,46,15,25,15,26:100:100 +9 135779176 . G T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=TSC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/23;CSQ_INTRON=.;CSQ_Feature=NM_000368.5;CSQ_HGVSc=NM_000368.5:c.2070C>A;CSQ_HGVSp=NP_000359.1:p.Thr690%3D;CSQ_HGVSg=9:g.135779176G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53765499&COSV53765499&COSV53765499;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.10 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,13:144:0.09028:65:-100:0.1111:1,2,0,3,1,6,24,47,10,26,13,24:100:100 +9 135779176 . G T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=TSC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/23;CSQ_INTRON=.;CSQ_Feature=NM_001162426.2;CSQ_HGVSc=NM_001162426.2:c.2067C>A;CSQ_HGVSp=NP_001155898.1:p.Thr689%3D;CSQ_HGVSg=9:g.135779176G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53765499&COSV53765499&COSV53765499;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.10 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,13:144:0.09028:65:-100:0.1111:1,2,0,3,1,6,24,47,10,26,13,24:100:100 +9 135779176 . G T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=TSC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/22;CSQ_INTRON=.;CSQ_Feature=NM_001162427.2;CSQ_HGVSc=NM_001162427.2:c.1917C>A;CSQ_HGVSp=NP_001155899.1:p.Thr639%3D;CSQ_HGVSg=9:g.135779176G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53765499&COSV53765499&COSV53765499;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.10 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,13:144:0.09028:65:-100:0.1111:1,2,0,3,1,6,24,47,10,26,13,24:100:100 +9 135782221 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=TSC1;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/23;CSQ_INTRON=.;CSQ_Feature=NM_000368.5;CSQ_HGVSc=NM_000368.5:c.1335A>G;CSQ_HGVSp=NP_000359.1:p.Glu445%3D;CSQ_HGVSg=9:g.135782221T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=48768;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Isolated_focal_cortical_dysplasia_type_II&Tuberous_sclerosis_syndrome&Tuberous_sclerosis_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4893;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.158114;CSQ_gnomADe_AC=32325;CSQ_gnomADe_AN=245652;CSQ_gnomADe_AF=0.131589;CSQ_gnomADe_Hom=2262;CSQ_COSMICcMuts=COSV53763241&COSV53763241&COSV53763241;CSQ_COSMICncMuts=COSV53763241&COSV53763241;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.14;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC1:E324E&TSC1:E324sra&TSC1:E394E&TSC1:E394sra&TSC1:E444E&TSC1:E444sra&TSC1:E445E&TSC1:E445sra;CSQ_CADD_PHRED=13.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,18:127:0.14173:65:-100:0.1119:2,3,1,5,2,5,18,40,10,21,10,28:100:100 +9 135782221 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=TSC1;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/23;CSQ_INTRON=.;CSQ_Feature=NM_001162426.2;CSQ_HGVSc=NM_001162426.2:c.1332A>G;CSQ_HGVSp=NP_001155898.1:p.Glu444%3D;CSQ_HGVSg=9:g.135782221T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=48768;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Isolated_focal_cortical_dysplasia_type_II&Tuberous_sclerosis_syndrome&Tuberous_sclerosis_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4893;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.158114;CSQ_gnomADe_AC=32325;CSQ_gnomADe_AN=245652;CSQ_gnomADe_AF=0.131589;CSQ_gnomADe_Hom=2262;CSQ_COSMICcMuts=COSV53763241&COSV53763241&COSV53763241;CSQ_COSMICncMuts=COSV53763241&COSV53763241;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.14;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC1:E324E&TSC1:E324sra&TSC1:E394E&TSC1:E394sra&TSC1:E444E&TSC1:E444sra&TSC1:E445E&TSC1:E445sra;CSQ_CADD_PHRED=13.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,18:127:0.14173:65:-100:0.1119:2,3,1,5,2,5,18,40,10,21,10,28:100:100 +9 135782221 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=TSC1;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/22;CSQ_INTRON=.;CSQ_Feature=NM_001162427.2;CSQ_HGVSc=NM_001162427.2:c.1182A>G;CSQ_HGVSp=NP_001155899.1:p.Glu394%3D;CSQ_HGVSg=9:g.135782221T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=48768;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Isolated_focal_cortical_dysplasia_type_II&Tuberous_sclerosis_syndrome&Tuberous_sclerosis_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4893;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.158114;CSQ_gnomADe_AC=32325;CSQ_gnomADe_AN=245652;CSQ_gnomADe_AF=0.131589;CSQ_gnomADe_Hom=2262;CSQ_COSMICcMuts=COSV53763241&COSV53763241&COSV53763241;CSQ_COSMICncMuts=COSV53763241&COSV53763241;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.14;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC1:E324E&TSC1:E324sra&TSC1:E394E&TSC1:E394sra&TSC1:E444E&TSC1:E444sra&TSC1:E445E&TSC1:E445sra;CSQ_CADD_PHRED=13.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,18:127:0.14173:65:-100:0.1119:2,3,1,5,2,5,18,40,10,21,10,28:100:100 +9 135786904 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=TSC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_000368.5;CSQ_HGVSc=NM_000368.5:c.965T>C;CSQ_HGVSp=NP_000359.1:p.Met322Thr;CSQ_HGVSg=9:g.135786904A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41700;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Isolated_focal_cortical_dysplasia_type_II&Malignant_tumor_of_urinary_bladder&Tuberous_sclerosis_syndrome&Malignant_tumor_of_breast&Tuberous_sclerosis_1&Lymphangiomyomatosis&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4604;CSQ_gnomADg_AN=30722;CSQ_gnomADg_AF=0.14986;CSQ_gnomADe_AC=30653;CSQ_gnomADe_AN=246068;CSQ_gnomADe_AF=0.124571;CSQ_gnomADe_Hom=2051;CSQ_COSMICcMuts=COSV53763263&COSV53763263&COSV53763263&COSV53763263;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.262;CSQ_Mastermind_MMID3=TSC1:M201T&TSC1:M271T&TSC1:M322T;CSQ_CADD_PHRED=12.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,25:113:0.22124:65:-100:0.2098:7,8,4,2,2,2,25,37,15,11,6,19:100:100 +9 135786904 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=TSC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_001162426.2;CSQ_HGVSc=NM_001162426.2:c.965T>C;CSQ_HGVSp=NP_001155898.1:p.Met322Thr;CSQ_HGVSg=9:g.135786904A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41700;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Isolated_focal_cortical_dysplasia_type_II&Malignant_tumor_of_urinary_bladder&Tuberous_sclerosis_syndrome&Malignant_tumor_of_breast&Tuberous_sclerosis_1&Lymphangiomyomatosis&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4604;CSQ_gnomADg_AN=30722;CSQ_gnomADg_AF=0.14986;CSQ_gnomADe_AC=30653;CSQ_gnomADe_AN=246068;CSQ_gnomADe_AF=0.124571;CSQ_gnomADe_Hom=2051;CSQ_COSMICcMuts=COSV53763263&COSV53763263&COSV53763263&COSV53763263;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.262;CSQ_Mastermind_MMID3=TSC1:M201T&TSC1:M271T&TSC1:M322T;CSQ_CADD_PHRED=12.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,25:113:0.22124:65:-100:0.2098:7,8,4,2,2,2,25,37,15,11,6,19:100:100 +9 135786904 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=TSC1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_001162427.2;CSQ_HGVSc=NM_001162427.2:c.812T>C;CSQ_HGVSp=NP_001155899.1:p.Met271Thr;CSQ_HGVSg=9:g.135786904A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41700;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Isolated_focal_cortical_dysplasia_type_II&Malignant_tumor_of_urinary_bladder&Tuberous_sclerosis_syndrome&Malignant_tumor_of_breast&Tuberous_sclerosis_1&Lymphangiomyomatosis&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4604;CSQ_gnomADg_AN=30722;CSQ_gnomADg_AF=0.14986;CSQ_gnomADe_AC=30653;CSQ_gnomADe_AN=246068;CSQ_gnomADe_AF=0.124571;CSQ_gnomADe_Hom=2051;CSQ_COSMICcMuts=COSV53763263&COSV53763263&COSV53763263&COSV53763263;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.262;CSQ_Mastermind_MMID3=TSC1:M201T&TSC1:M271T&TSC1:M322T;CSQ_CADD_PHRED=12.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,25:113:0.22124:65:-100:0.2098:7,8,4,2,2,2,25,37,15,11,6,19:100:100 +9 139391636 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=34/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.6555C>T;CSQ_HGVSp=NP_060087.3:p.Asp2185%3D;CSQ_HGVSg=9:g.139391636G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=286141;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Aortic_valve_disease_1¬_specified;CSQ_gnomADg_AC=18234;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.591399;CSQ_gnomADe_AC=152091;CSQ_gnomADe_AN=244830;CSQ_gnomADe_AF=0.621211;CSQ_gnomADe_Hom=49065;CSQ_COSMICcMuts=COSV53025449;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH1:D2185D;CSQ_CADD_PHRED=7.946 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,84:159:0.5283:65:-100:0.1804:15,27,6,12,9,15,35,44,14,23,17,26:100:100 +9 139396542 . TG T 100 PASS DP=108;CSQ_Allele=-;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=28/33;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.5385-3del;CSQ_HGVSp=.;CSQ_HGVSg=9:g.139396548del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,11:108:0.10185:65:-100:0:2,4,0,3,0,2,19,37,13,13,7,19:100:100 +9 139396746 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=28/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.5362G>A;CSQ_HGVSp=NP_060087.3:p.Gly1788Ser;CSQ_HGVSg=9:g.139396746C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=968772;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53027232;CSQ_COSMICncMuts=COSV53027232;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.666;CSQ_Mastermind_MMID3=NOTCH1:G1788S;CSQ_CADD_PHRED=26.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,7:123:0.05691:65:-100:0.1689:2,0,0,1,2,2,23,35,12,21,12,20:73.574:100 +9 139397707 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=27/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.5094C>T;CSQ_HGVSp=NP_060087.3:p.Asp1698%3D;CSQ_HGVSg=9:g.139397707G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=384696;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Aortic_valve_disease_1¬_specified;CSQ_gnomADg_AC=13760;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.446029;CSQ_gnomADe_AC=109894;CSQ_gnomADe_AN=245200;CSQ_gnomADe_AF=0.448181;CSQ_gnomADe_Hom=27451;CSQ_COSMICcMuts=COSV53025038;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH1:D1698D;CSQ_CADD_PHRED=4.956 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,81:177:0.45763:65:-100:0.1408:12,32,7,16,7,7,39,57,20,29,16,16:100:100 +9 139399812 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.4536C>T;CSQ_HGVSp=NP_060087.3:p.Ala1512%3D;CSQ_HGVSg=9:g.139399812G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=220735;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Aortic_valve_disease_1¬_specified¬_provided;CSQ_gnomADg_AC=123;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00397595;CSQ_gnomADe_AC=358;CSQ_gnomADe_AN=232770;CSQ_gnomADe_AF=0.001538;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV53078236;CSQ_COSMICncMuts=COSV53078236;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH1:A1512A;CSQ_CADD_PHRED=10.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,6:140:0.04286:65:-97.3038:0.1765:0,6,0,0,0,0,19,61,11,24,3,22:66.167:100 +9 139401289 . C G 100 PASS DP=171;CSQ_Allele=G;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.3780G>C;CSQ_HGVSp=NP_060087.3:p.Val1260%3D;CSQ_HGVSg=9:g.139401289C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=415425;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Aortic_valve_disease_1¬_specified¬_provided;CSQ_gnomADg_AC=223;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.00721589;CSQ_gnomADe_AC=425;CSQ_gnomADe_AN=242526;CSQ_gnomADe_AF=0.00175239;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV104374517;CSQ_COSMICncMuts=COSV104374517;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.06;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH1:V1260V;CSQ_CADD_PHRED=8.417 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,20:171:0.11696:65:-100:0.1934:2,9,4,2,0,3,31,64,14,29,15,18:100:100 +9 139401311 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.3758G>A;CSQ_HGVSp=NP_060087.3:p.Cys1253Tyr;CSQ_HGVSg=9:g.139401311C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.956;CSQ_Mastermind_MMID3=NOTCH1:C1253Y;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,7:157:0.04459:65:-46.2494:0.1823:1,3,1,1,1,0,32,56,15,22,10,22:82.847:100 +9 139402694 . C A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.3315G>T;CSQ_HGVSp=NP_060087.3:p.Ala1105%3D;CSQ_HGVSg=9:g.139402694C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=221096;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Aortic_valve_disease_1¬_specified¬_provided;CSQ_gnomADg_AC=58;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.00187702;CSQ_gnomADe_AC=624;CSQ_gnomADe_AN=244148;CSQ_gnomADe_AF=0.00255583;CSQ_gnomADe_Hom=13;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.027 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,10:151:0.06623:65:-100:0.1118:3,0,4,1,1,1,18,44,23,24,20,22:100:100 +9 139404286 . G A 100 PASS DP=184;CSQ_Allele=A;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.2868C>T;CSQ_HGVSp=NP_060087.3:p.Asn956%3D;CSQ_HGVSg=9:g.139404286G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=389956;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Aortic_valve_disease_1¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=3.22893e-05;CSQ_gnomADe_AC=8;CSQ_gnomADe_AN=245864;CSQ_gnomADe_AF=3.25383e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53041119;CSQ_COSMICncMuts=COSV53041119;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.636 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,11:184:0.05978:65:-100:0.1362:4,3,2,1,0,1,28,57,21,33,10,35:100:100 +9 139407932 . A G 100 PASS DP=175;CSQ_Allele=G;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.2265T>C;CSQ_HGVSp=NP_060087.3:p.Asn755%3D;CSQ_HGVSg=9:g.139407932A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=384703;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Aortic_valve_disease_1¬_specified;CSQ_gnomADg_AC=13666;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.442753;CSQ_gnomADe_AC=98027;CSQ_gnomADe_AN=245022;CSQ_gnomADe_AF=0.400074;CSQ_gnomADe_Hom=23151;CSQ_COSMICcMuts=COSV53032670;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH1:N755N;CSQ_CADD_PHRED=0.425 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,123:175:0.70286:65:-100:0.1463:21,44,9,19,13,17,30,60,13,29,16,27:100:100 +9 139409754 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.2002C>T;CSQ_HGVSp=NP_060087.3:p.Pro668Ser;CSQ_HGVSg=9:g.139409754G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53100753;CSQ_COSMICncMuts=COSV53100753;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.51;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=0.611;CSQ_Mastermind_MMID3=NOTCH1:P668S;CSQ_CADD_PHRED=26.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,10:153:0.06536:65:-95.5091:0.1862:1,5,0,2,1,1,31,54,9,19,16,24:100:100 +9 139413269 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.873C>T;CSQ_HGVSp=NP_060087.3:p.Tyr291%3D;CSQ_HGVSg=9:g.139413269G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=415396;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Aortic_valve_disease_1¬_specified;CSQ_gnomADg_AC=126;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.00407582;CSQ_gnomADe_AC=287;CSQ_gnomADe_AN=244678;CSQ_gnomADe_AF=0.00117297;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV104374464;CSQ_COSMICncMuts=COSV104374464&COSV104374464;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.231 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,39:167:0.23353:65:-100:0.1814:5,15,3,7,2,7,25,62,17,24,6,33:100:100 +9 139418227 . GC G 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.344del;CSQ_HGVSp=NP_060087.3:p.Gly115AlafsTer8;CSQ_HGVSg=9:g.139418232del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53064200;CSQ_COSMICncMuts=COSV53064200;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,6:157:0.03822:65:-100:0:2,2,2,0,0,0,22,54,17,31,8,25:60.329:100 +9 139418260 . A G 100 PASS DP=173;CSQ_Allele=G;CSQ_SYMBOL=NOTCH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/34;CSQ_INTRON=.;CSQ_Feature=NM_017617.5;CSQ_HGVSc=NM_017617.5:c.312T>C;CSQ_HGVSp=NP_060087.3:p.Asn104%3D;CSQ_HGVSg=9:g.139418260A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=286142;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Adams-Oliver_syndrome_5&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Aortic_valve_disease_1¬_specified;CSQ_gnomADg_AC=19785;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.64237;CSQ_gnomADe_AC=140189;CSQ_gnomADe_AN=238750;CSQ_gnomADe_AF=0.587179;CSQ_gnomADe_Hom=43574;CSQ_COSMICcMuts=COSV53027593;CSQ_COSMICncMuts=COSV53027593;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH1:N104N;CSQ_CADD_PHRED=1.729 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,105:173:0.60694:65:-100:0.1478:10,38,10,26,4,17,20,60,16,38,9,30:100:100 +9 139564387 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=EGFL7;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_016215.5;CSQ_HGVSc=NM_016215.5:c.335G>A;CSQ_HGVSp=NP_057299.1:p.Arg112Gln;CSQ_HGVSg=9:g.139564387G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=774468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=132;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.00426439;CSQ_gnomADe_AC=867;CSQ_gnomADe_AN=228338;CSQ_gnomADe_AF=0.003797;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV58247761&COSV58247761&COSV58247761&COSV58247761;CSQ_COSMICncMuts=COSV58247761&COSV58247761&COSV58247761&COSV58247761&COSV58247761&COSV58247761&COSV58247761;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.023;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,8:151:0.05298:65:-95.6257:0.142:1,4,1,0,0,2,26,50,7,27,10,31:83.209:100 +9 139564387 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=EGFL7;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/9;CSQ_INTRON=.;CSQ_Feature=NM_201446.3;CSQ_HGVSc=NM_201446.3:c.335G>A;CSQ_HGVSp=NP_958854.1:p.Arg112Gln;CSQ_HGVSg=9:g.139564387G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=774468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=132;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.00426439;CSQ_gnomADe_AC=867;CSQ_gnomADe_AN=228338;CSQ_gnomADe_AF=0.003797;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV58247761&COSV58247761&COSV58247761&COSV58247761;CSQ_COSMICncMuts=COSV58247761&COSV58247761&COSV58247761&COSV58247761&COSV58247761&COSV58247761&COSV58247761;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.023;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,8:151:0.05298:65:-95.6257:0.142:1,4,1,0,0,2,26,50,7,27,10,31:83.209:100 +9 139820291 . A G 100 PASS DP=194;CSQ_Allele=G;CSQ_SYMBOL=TRAF2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_021138.4;CSQ_HGVSc=NM_021138.4:c.1444A>G;CSQ_HGVSp=NP_066961.2:p.Asn482Asp;CSQ_HGVSg=9:g.139820291A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=0.168;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,26:194:0.13402:65:-100:0.1491:6,5,4,4,2,5,32,68,22,33,11,28:100:100 +10 8100647 . C T 100 PASS DP=179;CSQ_Allele=T;CSQ_SYMBOL=GATA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_001002295.2;CSQ_HGVSc=NM_001002295.2:c.621C>T;CSQ_HGVSp=NP_001002295.1:p.Ala207%3D;CSQ_HGVSg=10:g.8100647C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=256854;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypoparathyroidism&_deafness&_renal_disease_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=1675;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.0543126;CSQ_gnomADe_AC=11786;CSQ_gnomADe_AN=245040;CSQ_gnomADe_AF=0.0480983;CSQ_gnomADe_Hom=391;CSQ_COSMICcMuts=COSV60519981&COSV60519981;CSQ_COSMICncMuts=COSV60519981;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GATA3:A207A;CSQ_CADD_PHRED=10.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:165,14:179:0.07821:65:-100:0.1095:2,2,0,5,1,4,29,60,8,29,19,34:100:100 +10 8111444 . C A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=GATA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/6;CSQ_INTRON=.;CSQ_Feature=NM_001002295.2;CSQ_HGVSc=NM_001002295.2:c.933C>A;CSQ_HGVSp=NP_001002295.1:p.Ala311%3D;CSQ_HGVSg=10:g.8111444C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,9:124:0.07258:65:-47.7573:0.1948:2,2,0,2,1,2,26,33,7,25,12,21:100:100 +10 27303605 . A T 100 PASS DP=107;CSQ_Allele=T;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=31/34;CSQ_INTRON=.;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.4539T>A;CSQ_HGVSp=NP_001242982.1:p.Phe1513Leu;CSQ_HGVSg=10:g.27303605A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260470;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=6338;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.205047;CSQ_gnomADe_AC=54283;CSQ_gnomADe_AN=245032;CSQ_gnomADe_AF=0.221534;CSQ_gnomADe_Hom=7651;CSQ_COSMICcMuts=COSV65774511&COSV65774511&COSV65774511;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.055;CSQ_Mastermind_MMID3=ANKRD26:F1513L&ANKRD26:F1514L;CSQ_CADD_PHRED=11.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,13:107:0.1215:65:-100:0.1575:1,5,1,2,2,2,16,43,8,13,10,17:100:100 +10 27317778 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=splice_donor_region_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=27/33;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.3969+3A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.27317778T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=2818;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0911915;CSQ_gnomADe_AC=27783;CSQ_gnomADe_AN=245402;CSQ_gnomADe_AF=0.113214;CSQ_gnomADe_Hom=2033;CSQ_COSMICcMuts=COSV65775812&COSV65775812&COSV65775812;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.08 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,6:119:0.05042:65:-97.4473:0.1377:2,2,2,0,0,0,23,41,16,15,9,15:80.604:100 +10 27317840 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=27/34;CSQ_INTRON=.;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.3910G>A;CSQ_HGVSp=NP_001242982.1:p.Val1304Ile;CSQ_HGVSg=10:g.27317840C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260467;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=6336;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.205141;CSQ_gnomADe_AC=54106;CSQ_gnomADe_AN=245278;CSQ_gnomADe_AF=0.220591;CSQ_gnomADe_Hom=7596;CSQ_COSMICcMuts=COSV65774858&COSV65774858&COSV65774858;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.070;CSQ_Mastermind_MMID3=ANKRD26:V1304I&ANKRD26:V1305I;CSQ_CADD_PHRED=0.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,18:128:0.14063:65:-100:0.1579:5,4,3,0,3,3,22,47,17,12,10,20:100:100 +10 27322303 . C G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=25/34;CSQ_INTRON=.;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.3655G>C;CSQ_HGVSp=NP_001242982.1:p.Val1219Leu;CSQ_HGVSg=10:g.27322303C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260466;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=591;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.0191262;CSQ_gnomADe_AC=8830;CSQ_gnomADe_AN=245876;CSQ_gnomADe_AF=0.0359124;CSQ_gnomADe_Hom=458;CSQ_COSMICcMuts=COSV65774350&COSV65774350&COSV65774350;CSQ_COSMICncMuts=COSV65774350;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.096;CSQ_Mastermind_MMID3=ANKRD26:V1219L&ANKRD26:V1220L;CSQ_CADD_PHRED=8.771 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,5:149:0.03356:65:-93.9255:0.1078:2,1,0,1,1,0,25,54,15,24,11,20:62.047:100 +10 27323995 . C T 100 PASS DP=154;CSQ_Allele=T;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/34;CSQ_INTRON=.;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.3381G>A;CSQ_HGVSp=NP_001242982.1:p.Lys1127%3D;CSQ_HGVSg=10:g.27323995C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260465;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=424;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0137013;CSQ_gnomADe_AC=4285;CSQ_gnomADe_AN=245268;CSQ_gnomADe_AF=0.0174707;CSQ_gnomADe_Hom=49;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD26:K1127K&ANKRD26:K1128K;CSQ_CADD_PHRED=8.498 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,8:154:0.05195:65:-95.8637:0.1397:2,1,3,2,0,0,27,58,11,23,15,20:90.826:100 +10 27326999 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=21/33;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.2373-16A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.27326999T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260461;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=199440;CSQ_gnomADe_AN=239174;CSQ_gnomADe_AF=0.83387;CSQ_gnomADe_Hom=83634;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.29;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.183 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,101:122:0.82787:65:-100:0.0896:20,27,14,15,11,14,22,31,17,22,13,17:100:100 +10 27349367 . A C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/33;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.1492-21T>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.27349367A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1296921;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=590;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0190519;CSQ_gnomADe_AC=8871;CSQ_gnomADe_AN=245844;CSQ_gnomADe_AF=0.0360839;CSQ_gnomADe_Hom=471;CSQ_COSMICcMuts=COSV65799687&COSV65799687;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,5:136:0.03676:65:-47.84:0.1553:1,1,0,1,0,2,19,53,9,28,5,22:66.844:100 +10 27355409 . A T 100 PASS DP=97;CSQ_Allele=T;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=splice_region_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=11/33;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.1269+7T>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.27355409A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=299750;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Likely_benign(1);CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD26:E423int&ANKRD26:E423intd&ANKRD26:E423srd;CSQ_CADD_PHRED=7.051 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,4:97:0.04124:65:-48.0981:0.1565:1,1,0,1,0,1,18,30,11,17,7,14:64.866:100 +10 27375559 . C T 100 PASS DP=94;CSQ_Allele=T;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/33;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.639-21G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.27375559C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1283756;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4107;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.133076;CSQ_gnomADe_AC=33797;CSQ_gnomADe_AN=237904;CSQ_gnomADe_AF=0.142062;CSQ_gnomADe_Hom=2770;CSQ_COSMICcMuts=COSV63091835&COSV63091835;CSQ_COSMICncMuts=COSV63091835;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.456 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,5:94:0.05319:65:-49.437:0.1455:1,0,0,2,1,1,23,23,7,19,9,13:87.892:100 +10 27381349 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/34;CSQ_INTRON=.;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.624A>G;CSQ_HGVSp=NP_001242982.1:p.Val208%3D;CSQ_HGVSg=10:g.27381349T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260473;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=7509;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.242915;CSQ_gnomADe_AC=59127;CSQ_gnomADe_AN=244296;CSQ_gnomADe_AF=0.24203;CSQ_gnomADe_Hom=8635;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD26:V208V;CSQ_CADD_PHRED=0.055 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,26:136:0.19118:65:-100:0.0993:7,8,0,4,3,4,22,59,6,24,8,17:100:100 +10 27382269 . G C 100 PASS DP=147;CSQ_Allele=C;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/33;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.531+9C>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.27382269G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=877329;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified;CSQ_gnomADg_AC=22;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.00071009;CSQ_gnomADe_AC=253;CSQ_gnomADe_AN=244394;CSQ_gnomADe_AF=0.00103521;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,10:147:0.06803:65:-100:0.1302:2,5,0,2,1,0,26,48,12,20,10,31:100:100 +10 27389197 . T C 100 PASS DP=42;CSQ_Allele=C;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/34;CSQ_INTRON=.;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.59A>G;CSQ_HGVSp=NP_001242982.1:p.Gln20Arg;CSQ_HGVSg=10:g.27389197T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260472;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=27942;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.903921;CSQ_gnomADe_AC=216661;CSQ_gnomADe_AN=241010;CSQ_gnomADe_AF=0.898971;CSQ_gnomADe_Hom=97658;CSQ_COSMICcMuts=COSV65793917&COSV65793917;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=0.005;CSQ_Mastermind_MMID3=ANKRD26:Q20R;CSQ_CADD_PHRED=2.603 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,27:42:0.64286:65:-100:0.2075:4,8,3,3,1,8,6,16,3,5,2,10:100:100 +10 27389314 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=ANKRD26;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/34;CSQ_INTRON=.;CSQ_Feature=NM_001256053.2;CSQ_HGVSc=NM_001256053.2:c.-59G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.27389314C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=260454;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Thrombocytopenia_2¬_specified¬_provided;CSQ_gnomADg_AC=2398;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0774548;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD26:5UTR;CSQ_CADD_PHRED=10.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,11:123:0.08943:65:-100:0.1633:1,5,1,0,2,2,27,38,17,9,13,19:100:100 +10 32298840 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=KIF5B;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=26/26;CSQ_INTRON=.;CSQ_Feature=NM_004521.3;CSQ_HGVSc=NM_004521.3:c.*1625G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.32298840C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6371;CSQ_gnomADg_AN=30760;CSQ_gnomADg_AF=0.20712;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KIF5B:3UTR;CSQ_CADD_PHRED=11.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,29:136:0.21324:65:-100:0.0993:5,5,2,6,0,11,13,40,12,25,17,29:100:100 +10 32299530 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=KIF5B;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=26/26;CSQ_INTRON=.;CSQ_Feature=NM_004521.3;CSQ_HGVSc=NM_004521.3:c.*935C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.32299530G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.776 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,9:151:0.0596:65:-46.1351:0.0848:2,2,0,2,1,2,22,50,14,31,9,25:100:100 +10 32300108 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=KIF5B;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=26/26;CSQ_INTRON=.;CSQ_Feature=NM_004521.3;CSQ_HGVSc=NM_004521.3:c.*357T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.32300108A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.847 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,9:140:0.06429:65:-100:0.1463:1,4,1,1,0,2,20,48,22,20,8,22:93.253:100 +10 32300337 . A AT 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=KIF5B;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=26/26;CSQ_INTRON=.;CSQ_Feature=NM_004521.3;CSQ_HGVSc=NM_004521.3:c.*127dup;CSQ_HGVSp=.;CSQ_HGVSg=10:g.32300345dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=502;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0162291;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,10:134:0.07463:65:-100:0:0,4,0,4,1,1,22,46,9,28,8,21:73.09:100 +10 32300413 . G GT 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=KIF5B;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=26/26;CSQ_INTRON=.;CSQ_Feature=NM_004521.3;CSQ_HGVSc=NM_004521.3:c.*51dup;CSQ_HGVSp=.;CSQ_HGVSg=10:g.32300414dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6016;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.19473;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56650442;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,28:129:0.21705:65:-100:0:5,4,6,7,2,4,22,36,16,25,8,22:100:100 +10 32345138 . A G 100 PASS DP=80;CSQ_Allele=G;CSQ_SYMBOL=KIF5B;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/26;CSQ_INTRON=.;CSQ_Feature=NM_004521.3;CSQ_HGVSc=NM_004521.3:c.-237T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.32345138A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6386;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.207002;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KIF5B:5UTR;CSQ_CADD_PHRED=16.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,13:80:0.1625:65:-100:0.1837:2,6,1,3,0,1,16,27,13,12,5,7:99.385:100 +10 32345345 . T C 100 PASS DP=18;CSQ_Allele=C;CSQ_SYMBOL=KIF5B;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/26;CSQ_INTRON=.;CSQ_Feature=NM_004521.3;CSQ_HGVSc=NM_004521.3:c.-444A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.32345345T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7634;CSQ_gnomADg_AN=30810;CSQ_gnomADg_AF=0.247777;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56656531;CSQ_COSMICncMuts=COSV56656531;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KIF5B:5UTR;CSQ_CADD_PHRED=9.264 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,6:18:0.33333:65:-58.0103:0.2174:1,1,0,1,2,1,3,2,3,2,4,4:100:100 +10 43576910 . G T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.73+4131G>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43576910G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30217;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.978466;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,141:141:1:65:-100:0.1506:25,50,13,23,14,16,25,50,13,23,14,16:100:100 +10 43576910 . G T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.73+4131G>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43576910G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30217;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.978466;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,141:141:1:65:-100:0.1506:25,50,13,23,14,16,25,50,13,23,14,16:100:100 +10 43577026 . G C 100 PASS DP=161;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.73+4247G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43577026G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11421;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.370643;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:V25int&RET:V25intd;CSQ_CADD_PHRED=3.786 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,26:161:0.16149:65:-100:0.1526:1,9,2,5,4,5,19,60,10,30,16,26:100:100 +10 43577026 . G C 100 PASS DP=161;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.73+4247G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43577026G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11421;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.370643;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:V25int&RET:V25intd;CSQ_CADD_PHRED=3.786 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,26:161:0.16149:65:-100:0.1526:1,9,2,5,4,5,19,60,10,30,16,26:100:100 +10 43591989 . G C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.74-3918G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43591989G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1017;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.0328935;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.144 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,18:140:0.12857:65:-100:0.1667:2,6,1,3,2,4,21,57,10,26,14,12:100:100 +10 43591989 . G C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.74-3918G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43591989G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1017;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.0328935;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.144 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,18:140:0.12857:65:-100:0.1667:2,6,1,3,2,4,21,57,10,26,14,12:100:100 +10 43595968 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.135A>G;CSQ_HGVSp=NP_065681.1:p.Ala45%3D;CSQ_HGVSg=10:g.43595968A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=167589;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Multiple_endocrine_neoplasia&_type_2b&Multiple_endocrine_neoplasia&_type_2a&Multiple_endocrine_neoplasia&_type_2¬_specified¬_provided;CSQ_gnomADg_AC=23769;CSQ_gnomADg_AN=30764;CSQ_gnomADg_AF=0.772624;CSQ_gnomADe_AC=178746;CSQ_gnomADe_AN=244572;CSQ_gnomADe_AF=0.730852;CSQ_gnomADe_Hom=66092;CSQ_COSMICcMuts=COSV60686024&COSV60686024;CSQ_COSMICncMuts=COSV60686024;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:A45A;CSQ_CADD_PHRED=1.167 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,107:145:0.73793:65:-100:0.1317:19,33,7,20,5,23,25,50,11,24,7,28:100:100 +10 43595968 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/20;CSQ_INTRON=.;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.135A>G;CSQ_HGVSp=NP_066124.1:p.Ala45%3D;CSQ_HGVSg=10:g.43595968A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=167589;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Multiple_endocrine_neoplasia&_type_2b&Multiple_endocrine_neoplasia&_type_2a&Multiple_endocrine_neoplasia&_type_2¬_specified¬_provided;CSQ_gnomADg_AC=23769;CSQ_gnomADg_AN=30764;CSQ_gnomADg_AF=0.772624;CSQ_gnomADe_AC=178746;CSQ_gnomADe_AN=244572;CSQ_gnomADe_AF=0.730852;CSQ_gnomADe_Hom=66092;CSQ_COSMICcMuts=COSV60686024&COSV60686024;CSQ_COSMICncMuts=COSV60686024;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:A45A;CSQ_CADD_PHRED=1.167 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,107:145:0.73793:65:-100:0.1317:19,33,7,20,5,23,25,50,11,24,7,28:100:100 +10 43604493 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.1078C>T;CSQ_HGVSp=NP_065681.1:p.Arg360Trp;CSQ_HGVSg=10:g.43604493C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60688383&COSV60688383;CSQ_COSMICncMuts=COSV60688383;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.683;CSQ_Mastermind_MMID3=RET:R106W&RET:R360W;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,8:158:0.05063:65:-100:0.1505:1,4,0,2,0,1,25,58,15,23,6,31:81.908:100 +10 43604493 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/20;CSQ_INTRON=.;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.1078C>T;CSQ_HGVSp=NP_066124.1:p.Arg360Trp;CSQ_HGVSg=10:g.43604493C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60688383&COSV60688383;CSQ_COSMICncMuts=COSV60688383;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.683;CSQ_Mastermind_MMID3=RET:R106W&RET:R360W;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,8:158:0.05063:65:-100:0.1505:1,4,0,2,0,1,25,58,15,23,6,31:81.908:100 +10 43606687 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.1296A>G;CSQ_HGVSp=NP_065681.1:p.Ala432%3D;CSQ_HGVSg=10:g.43606687A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=95995;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Hirschsprung_disease&_susceptibility_to&_1&Multiple_endocrine_neoplasia&_type_2b&Multiple_endocrine_neoplasia&_type_2a&Hereditary_cancer-predisposing_syndrome&Multiple_endocrine_neoplasia&Multiple_endocrine_neoplasia&_type_2&Renal_hypodysplasia/aplasia_1¬_specified¬_provided;CSQ_gnomADg_AC=22805;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.738839;CSQ_gnomADe_AC=171112;CSQ_gnomADe_AN=245994;CSQ_gnomADe_AF=0.695594;CSQ_gnomADe_Hom=60395;CSQ_COSMICcMuts=COSV60686810&COSV60686810;CSQ_COSMICncMuts=COSV60686810;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:A178A&RET:A432A;CSQ_CADD_PHRED=6.248 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,114:166:0.68675:65:-100:0.0879:17,47,5,23,8,14,24,70,10,29,10,23:100:100 +10 43606687 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/20;CSQ_INTRON=.;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.1296A>G;CSQ_HGVSp=NP_066124.1:p.Ala432%3D;CSQ_HGVSg=10:g.43606687A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=95995;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Hirschsprung_disease&_susceptibility_to&_1&Multiple_endocrine_neoplasia&_type_2b&Multiple_endocrine_neoplasia&_type_2a&Hereditary_cancer-predisposing_syndrome&Multiple_endocrine_neoplasia&Multiple_endocrine_neoplasia&_type_2&Renal_hypodysplasia/aplasia_1¬_specified¬_provided;CSQ_gnomADg_AC=22805;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.738839;CSQ_gnomADe_AC=171112;CSQ_gnomADe_AN=245994;CSQ_gnomADe_AF=0.695594;CSQ_gnomADe_Hom=60395;CSQ_COSMICcMuts=COSV60686810&COSV60686810;CSQ_COSMICncMuts=COSV60686810;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:A178A&RET:A432A;CSQ_CADD_PHRED=6.248 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,114:166:0.68675:65:-100:0.0879:17,47,5,23,8,14,24,70,10,29,10,23:100:100 +10 43607629 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.1605C>T;CSQ_HGVSp=NP_065681.1:p.Gly535%3D;CSQ_HGVSg=10:g.43607629C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1776263;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60702450&COSV60702450;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:G535G;CSQ_CADD_PHRED=10.77 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,12:176:0.06818:65:-100:0.1498:3,3,1,0,1,4,32,57,16,25,13,33:100:100 +10 43607629 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/20;CSQ_INTRON=.;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.1605C>T;CSQ_HGVSp=NP_066124.1:p.Gly535%3D;CSQ_HGVSg=10:g.43607629C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1776263;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60702450&COSV60702450;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:G535G;CSQ_CADD_PHRED=10.77 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,12:176:0.06818:65:-100:0.1498:3,3,1,0,1,4,32,57,16,25,13,33:100:100 +10 43607756 . G A 100 PASS DP=144;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.1648+84G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43607756G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23478;CSQ_gnomADg_AN=30718;CSQ_gnomADg_AF=0.764308;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:G296int&RET:G296intd&RET:G550int&RET:G550intd;CSQ_CADD_PHRED=0.974 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,107:144:0.74306:65:-100:0.1628:12,42,7,16,8,22,19,52,12,21,10,30:100:100 +10 43607756 . G A 100 PASS DP=144;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.1648+84G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43607756G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23478;CSQ_gnomADg_AN=30718;CSQ_gnomADg_AF=0.764308;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:G296int&RET:G296intd&RET:G550int&RET:G550intd;CSQ_CADD_PHRED=0.974 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,107:144:0.74306:65:-100:0.1628:12,42,7,16,8,22,19,52,12,21,10,30:100:100 +10 43608150 . G C 100 PASS DP=163;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.1649-151G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43608150G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=532;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0172101;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60691572&COSV60691572;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:G296int&RET:G296inta&RET:G550int&RET:G550inta;CSQ_CADD_PHRED=4.828 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,10:163:0.06135:65:-100:0.1376:2,2,2,3,0,1,22,66,21,16,12,26:100:100 +10 43608150 . G C 100 PASS DP=163;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.1649-151G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43608150G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=532;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0172101;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60691572&COSV60691572;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:G296int&RET:G296inta&RET:G550int&RET:G550inta;CSQ_CADD_PHRED=4.828 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,10:163:0.06135:65:-100:0.1376:2,2,2,3,0,1,22,66,21,16,12,26:100:100 +10 43610119 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2071G>A;CSQ_HGVSp=NP_065681.1:p.Gly691Ser;CSQ_HGVSg=10:g.43610119G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=24934;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(10)&Likely_benign(4);CSQ_ClinVar_CLNDN=Pheochromocytoma&Hirschsprung_disease&_susceptibility_to&_1&Multiple_endocrine_neoplasia&_type_2a&Hereditary_cancer-predisposing_syndrome&Multiple_endocrine_neoplasia&Multiple_endocrine_neoplasia&_type_2&Renal_hypodysplasia/aplasia_1¬_specified¬_provided;CSQ_gnomADg_AC=4999;CSQ_gnomADg_AN=30680;CSQ_gnomADg_AF=0.16294;CSQ_gnomADe_AC=51693;CSQ_gnomADe_AN=245020;CSQ_gnomADe_AF=0.210975;CSQ_gnomADe_Hom=6223;CSQ_COSMICcMuts=COSV60687096&COSV60687096;CSQ_COSMICncMuts=COSV60687096;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=0.207;CSQ_Mastermind_MMID3=RET:G437S&RET:G691S;CSQ_CADD_PHRED=8.255 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,8:167:0.0479:65:-100:0.1773:1,3,0,1,1,2,24,65,9,30,11,28:84.982:100 +10 43610119 . G A 100 PASS DP=167;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/20;CSQ_INTRON=.;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2071G>A;CSQ_HGVSp=NP_066124.1:p.Gly691Ser;CSQ_HGVSg=10:g.43610119G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=24934;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(10)&Likely_benign(4);CSQ_ClinVar_CLNDN=Pheochromocytoma&Hirschsprung_disease&_susceptibility_to&_1&Multiple_endocrine_neoplasia&_type_2a&Hereditary_cancer-predisposing_syndrome&Multiple_endocrine_neoplasia&Multiple_endocrine_neoplasia&_type_2&Renal_hypodysplasia/aplasia_1¬_specified¬_provided;CSQ_gnomADg_AC=4999;CSQ_gnomADg_AN=30680;CSQ_gnomADg_AF=0.16294;CSQ_gnomADe_AC=51693;CSQ_gnomADe_AN=245020;CSQ_gnomADe_AF=0.210975;CSQ_gnomADe_Hom=6223;CSQ_COSMICcMuts=COSV60687096&COSV60687096;CSQ_COSMICncMuts=COSV60687096;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=0.207;CSQ_Mastermind_MMID3=RET:G437S&RET:G691S;CSQ_CADD_PHRED=8.255 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,8:167:0.0479:65:-100:0.1773:1,3,0,1,1,2,24,65,9,30,11,28:84.982:100 +10 43610366 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2136+182G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43610366G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1226080;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=25086;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.814269;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60687565&COSV60687565;CSQ_COSMICncMuts=COSV60687565;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L458int&RET:L458intd&RET:L712int&RET:L712intd;CSQ_CADD_PHRED=0.392 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,102:150:0.68:65:-100:0.162:13,31,9,18,8,23,22,47,18,25,12,26:100:100 +10 43610366 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2136+182G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43610366G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1226080;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=25086;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.814269;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60687565&COSV60687565;CSQ_COSMICncMuts=COSV60687565;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L458int&RET:L458intd&RET:L712int&RET:L712intd;CSQ_CADD_PHRED=0.392 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,102:150:0.68:65:-100:0.162:13,31,9,18,8,23,22,47,18,25,12,26:100:100 +10 43610455 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2136+271T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43610455T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1259561;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=24047;CSQ_gnomADg_AN=30744;CSQ_gnomADg_AF=0.782169;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L712int&RET:L712intd;CSQ_CADD_PHRED=1.463 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,107:145:0.73793:65:-100:0.157:11,44,10,13,7,22,18,58,14,19,7,29:100:100 +10 43610455 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2136+271T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43610455T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1259561;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=24047;CSQ_gnomADg_AN=30744;CSQ_gnomADg_AF=0.782169;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L712int&RET:L712intd;CSQ_CADD_PHRED=1.463 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,107:145:0.73793:65:-100:0.157:11,44,10,13,7,22,18,58,14,19,7,29:100:100 +10 43610558 . C T 100 PASS DP=154;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2136+374C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43610558C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24066;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.779693;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L458int&RET:L458intd&RET:L712int&RET:L712intd;CSQ_CADD_PHRED=3.143 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,103:154:0.66883:65:-100:0.0888:15,42,7,14,9,16,25,60,14,17,14,24:100:100 +10 43610558 . C T 100 PASS DP=154;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2136+374C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43610558C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24066;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.779693;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L458int&RET:L458intd&RET:L712int&RET:L712intd;CSQ_CADD_PHRED=3.143 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,103:154:0.66883:65:-100:0.0888:15,42,7,14,9,16,25,60,14,17,14,24:100:100 +10 43611600 . C T 100 PASS DP=174;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2137-432C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43611600C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.722 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,11:174:0.06322:65:-100:0.1635:1,5,0,2,0,3,26,65,18,25,9,31:100:100 +10 43611600 . C T 100 PASS DP=174;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2137-432C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43611600C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.722 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,11:174:0.06322:65:-100:0.1635:1,5,0,2,0,3,26,65,18,25,9,31:100:100 +10 43611708 . A G 100 PASS DP=163;CSQ_Allele=G;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2137-324A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43611708A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1267407;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=25411;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.822043;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L458int&RET:L458inta&RET:L712int&RET:L712inta;CSQ_CADD_PHRED=0.210 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,122:163:0.74847:65:-100:0.1641:20,40,20,20,7,15,26,58,21,23,10,25:100:100 +10 43611708 . A G 100 PASS DP=163;CSQ_Allele=G;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2137-324A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43611708A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1267407;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=25411;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.822043;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L458int&RET:L458inta&RET:L712int&RET:L712inta;CSQ_CADD_PHRED=0.210 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,122:163:0.74847:65:-100:0.1641:20,40,20,20,7,15,26,58,21,23,10,25:100:100 +10 43611865 . T C 100 PASS DP=158;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2137-167T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43611865T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=677053;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=17243;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.55846;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60688429&COSV60688429;CSQ_COSMICncMuts=COSV60688429;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L458int&RET:L458inta&RET:L712int&RET:L712inta;CSQ_CADD_PHRED=5.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,99:158:0.62658:65:-100:0.1459:17,30,9,17,6,20,25,51,10,36,8,28:100:100 +10 43611865 . T C 100 PASS DP=158;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2137-167T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43611865T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=677053;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=17243;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.55846;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60688429&COSV60688429;CSQ_COSMICncMuts=COSV60688429;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L458int&RET:L458inta&RET:L712int&RET:L712inta;CSQ_CADD_PHRED=5.691 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,99:158:0.62658:65:-100:0.1459:17,30,9,17,6,20,25,51,10,36,8,28:100:100 +10 43612226 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2284+47C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43612226C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=261396;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=5623;CSQ_gnomADg_AN=30008;CSQ_gnomADg_AF=0.187383;CSQ_gnomADe_AC=46019;CSQ_gnomADe_AN=221662;CSQ_gnomADe_AF=0.207609;CSQ_gnomADe_Hom=5697;CSQ_COSMICcMuts=COSV60689537&COSV60689537;CSQ_COSMICncMuts=COSV60689537;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:E508int&RET:E508intd&RET:E762int&RET:E762intd;CSQ_CADD_PHRED=0.536 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,12:96:0.125:65:-52.2125:0.3239:1,6,0,3,0,2,14,33,6,19,4,20:100:100 +10 43612226 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2284+47C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43612226C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=261396;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=5623;CSQ_gnomADg_AN=30008;CSQ_gnomADg_AF=0.187383;CSQ_gnomADe_AC=46019;CSQ_gnomADe_AN=221662;CSQ_gnomADe_AF=0.207609;CSQ_gnomADe_Hom=5697;CSQ_COSMICcMuts=COSV60689537&COSV60689537;CSQ_COSMICncMuts=COSV60689537;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:E508int&RET:E508intd&RET:E762int&RET:E762intd;CSQ_CADD_PHRED=0.536 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,12:96:0.125:65:-52.2125:0.3239:1,6,0,3,0,2,14,33,6,19,4,20:100:100 +10 43612609 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2284+430C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43612609C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23437;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.758528;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:E508int&RET:E508intd&RET:E762int&RET:E762intd;CSQ_CADD_PHRED=0.091 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,121:175:0.69143:65:-100:0.1706:26,41,6,24,6,18,34,63,7,39,8,24:100:100 +10 43612609 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2284+430C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43612609C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23437;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.758528;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:E508int&RET:E508intd&RET:E762int&RET:E762intd;CSQ_CADD_PHRED=0.091 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,121:175:0.69143:65:-100:0.1706:26,41,6,24,6,18,34,63,7,39,8,24:100:100 +10 43613072 . C T 100 PASS DP=178;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/18;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2285-749C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43613072C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=569;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0183774;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60686063&COSV60686063;CSQ_COSMICncMuts=COSV60686063;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:E508int&RET:E508inta&RET:E762int&RET:E762inta;CSQ_CADD_PHRED=2.544 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,7:178:0.03933:65:-100:0.1564:1,2,1,1,1,1,24,69,13,37,7,28:76.382:100 +10 43613072 . C T 100 PASS DP=178;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2285-749C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43613072C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=569;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0183774;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60686063&COSV60686063;CSQ_COSMICncMuts=COSV60686063;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:E508int&RET:E508inta&RET:E762int&RET:E762inta;CSQ_CADD_PHRED=2.544 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,7:178:0.03933:65:-100:0.1564:1,2,1,1,1,1,24,69,13,37,7,28:76.382:100 +10 43613843 . G T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2307G>T;CSQ_HGVSp=NP_065681.1:p.Leu769%3D;CSQ_HGVSg=10:g.43613843G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=167590;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Multiple_endocrine_neoplasia&_type_2b&Multiple_endocrine_neoplasia&_type_2a&Multiple_endocrine_neoplasia&_type_2¬_specified¬_provided;CSQ_gnomADg_AC=24075;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.779883;CSQ_gnomADe_AC=181651;CSQ_gnomADe_AN=245748;CSQ_gnomADe_AF=0.739176;CSQ_gnomADe_Hom=68119;CSQ_COSMICcMuts=COSV60687116&COSV60687116;CSQ_COSMICncMuts=COSV60687116;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L515L&RET:L769L;CSQ_CADD_PHRED=10.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,112:149:0.75168:65:-100:0.1337:12,45,8,27,10,10,18,62,10,30,13,16:100:100 +10 43613843 . G T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/20;CSQ_INTRON=.;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2307G>T;CSQ_HGVSp=NP_066124.1:p.Leu769%3D;CSQ_HGVSg=10:g.43613843G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=167590;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Multiple_endocrine_neoplasia&_type_2b&Multiple_endocrine_neoplasia&_type_2a&Multiple_endocrine_neoplasia&_type_2¬_specified¬_provided;CSQ_gnomADg_AC=24075;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.779883;CSQ_gnomADe_AC=181651;CSQ_gnomADe_AN=245748;CSQ_gnomADe_AF=0.739176;CSQ_gnomADe_Hom=68119;CSQ_COSMICcMuts=COSV60687116&COSV60687116;CSQ_COSMICncMuts=COSV60687116;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:L515L&RET:L769L;CSQ_CADD_PHRED=10.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,112:149:0.75168:65:-100:0.1337:12,45,8,27,10,10,18,62,10,30,13,16:100:100 +10 43615633 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.2712C>G;CSQ_HGVSp=NP_065681.1:p.Ser904%3D;CSQ_HGVSg=10:g.43615633C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=24964;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Hirschsprung_disease&_susceptibility_to&_1&Multiple_endocrine_neoplasia&_type_2a&Hereditary_cancer-predisposing_syndrome&Multiple_endocrine_neoplasia&Multiple_endocrine_neoplasia&_type_2&Renal_hypodysplasia/aplasia_1¬_specified¬_provided;CSQ_gnomADg_AC=5192;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.167917;CSQ_gnomADe_AC=51937;CSQ_gnomADe_AN=244944;CSQ_gnomADe_AF=0.212036;CSQ_gnomADe_Hom=6194;CSQ_COSMICcMuts=COSV60687135&COSV60687135;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.52;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:S650S&RET:S904S;CSQ_CADD_PHRED=14.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-96.6195:0.0941:0,2,0,2,1,2,25,45,16,27,14,27:68.69:100 +10 43615633 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=RET;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/20;CSQ_INTRON=.;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.2712C>G;CSQ_HGVSp=NP_066124.1:p.Ser904%3D;CSQ_HGVSg=10:g.43615633C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=24964;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Hirschsprung_disease&_susceptibility_to&_1&Multiple_endocrine_neoplasia&_type_2a&Hereditary_cancer-predisposing_syndrome&Multiple_endocrine_neoplasia&Multiple_endocrine_neoplasia&_type_2&Renal_hypodysplasia/aplasia_1¬_specified¬_provided;CSQ_gnomADg_AC=5192;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.167917;CSQ_gnomADe_AC=51937;CSQ_gnomADe_AN=244944;CSQ_gnomADe_AF=0.212036;CSQ_gnomADe_Hom=6194;CSQ_COSMICcMuts=COSV60687135&COSV60687135;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.52;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:S650S&RET:S904S;CSQ_CADD_PHRED=14.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-96.6195:0.0941:0,2,0,2,1,2,25,45,16,27,14,27:68.69:100 +10 43622217 . T C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.*15T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43622217T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=165056;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Multiple_endocrine_neoplasia&_type_2b&Multiple_endocrine_neoplasia&_type_2a&Multiple_endocrine_neoplasia&_type_2¬_specified;CSQ_gnomADg_AC=25462;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.823267;CSQ_gnomADe_AC=182343;CSQ_gnomADe_AN=230558;CSQ_gnomADe_AF=0.790877;CSQ_gnomADe_Hom=72912;CSQ_COSMICcMuts=COSV60689472&COSV60689472;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,103:151:0.68212:65:-100:0.1703:12,44,12,15,4,16,21,59,17,27,7,20:100:100 +10 43622217 . T C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.3187+47T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43622217T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=165056;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pheochromocytoma&Multiple_endocrine_neoplasia&_type_2b&Multiple_endocrine_neoplasia&_type_2a&Multiple_endocrine_neoplasia&_type_2¬_specified;CSQ_gnomADg_AC=25462;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.823267;CSQ_gnomADe_AC=182343;CSQ_gnomADe_AN=230558;CSQ_gnomADe_AF=0.790877;CSQ_gnomADe_Hom=72912;CSQ_COSMICcMuts=COSV60689472&COSV60689472;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:3UTR&RET:G1063int&RET:G1063intd;CSQ_CADD_PHRED=15.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,103:151:0.68212:65:-100:0.1703:12,44,12,15,4,16,21,59,17,27,7,20:100:100 +10 43622368 . T A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.*166T>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43622368T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1230253;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=23205;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.750485;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60699882&COSV60699882;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,87:122:0.71311:65:-100:0.1812:15,38,5,11,6,12,21,51,8,18,8,16:100:100 +10 43622368 . T A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.3187+198T>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43622368T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1230253;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=23205;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.750485;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60699882&COSV60699882;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:3UTR&RET:G1063int&RET:G1063intd;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,87:122:0.71311:65:-100:0.1812:15,38,5,11,6,12,21,51,8,18,8,16:100:100 +10 43622437 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.*235G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43622437G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=3.22872e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.729 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,10:151:0.06623:65:-100:0.1517:3,4,0,1,1,1,29,47,14,26,12,23:100:100 +10 43622437 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.3187+267G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43622437G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=3.22872e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.729 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,10:151:0.06623:65:-100:0.1517:3,4,0,1,1,1,29,47,14,26,12,23:100:100 +10 43622933 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_020630.6;CSQ_HGVSc=NM_020630.6:c.*731T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43622933T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25751;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.831966;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60689476&COSV60689476;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,98:127:0.77165:65:-100:0.1806:19,30,8,17,6,18,21,41,11,21,7,26:100:100 +10 43622933 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=RET;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/19;CSQ_Feature=NM_020975.6;CSQ_HGVSc=NM_020975.6:c.3188-627T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.43622933T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25751;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.831966;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60689476&COSV60689476;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RET:3UTR&RET:G1063int&RET:G1063inta;CSQ_CADD_PHRED=15.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,98:127:0.77165:65:-100:0.1806:19,30,8,17,6,18,21,41,11,21,7,26:100:100 +10 63852189 . G T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=ARID5B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001244638.2;CSQ_HGVSc=NM_001244638.2:c.2238G>T;CSQ_HGVSp=NP_001231567.1:p.Met746Ile;CSQ_HGVSg=10:g.63852189G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.048;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,15:148:0.10135:65:-100:0.1543:7,2,1,3,0,2,28,53,14,21,13,19:100:100 +10 63852189 . G T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=ARID5B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_032199.3;CSQ_HGVSc=NM_032199.3:c.2967G>T;CSQ_HGVSp=NP_115575.1:p.Met989Ile;CSQ_HGVSg=10:g.63852189G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.048;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,15:148:0.10135:65:-100:0.1543:7,2,1,3,0,2,28,53,14,21,13,19:100:100 +10 70332477 . G T 100 PASS DP=155;CSQ_Allele=T;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.382G>T;CSQ_HGVSp=NP_085128.2:p.Val128Phe;CSQ_HGVSg=10:g.70332477G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=596;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0192531;CSQ_gnomADe_AC=3952;CSQ_gnomADe_AN=246044;CSQ_gnomADe_AF=0.0160622;CSQ_gnomADe_Hom=99;CSQ_COSMICcMuts=COSV65382828;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.030;CSQ_Mastermind_MMID3=TET1:V128F;CSQ_CADD_PHRED=21.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,8:155:0.05161:65:-100:0.153:2,2,0,3,0,1,22,54,16,24,18,21:81.613:100 +10 70332580 . A G 100 PASS DP=155;CSQ_Allele=G;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.485A>G;CSQ_HGVSp=NP_085128.2:p.Asp162Gly;CSQ_HGVSg=10:g.70332580A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8443;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.27336;CSQ_gnomADe_AC=81048;CSQ_gnomADe_AN=245166;CSQ_gnomADe_AF=0.330584;CSQ_gnomADe_Hom=14664;CSQ_COSMICcMuts=COSV65381629;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.087;CSQ_Mastermind_MMID3=TET1:D162G;CSQ_CADD_PHRED=16.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,26:155:0.16774:65:-100:0.1292:4,8,1,7,1,5,18,57,16,33,12,19:100:100 +10 70332672 . T A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.577T>A;CSQ_HGVSp=NP_085128.2:p.Ser193Thr;CSQ_HGVSg=10:g.70332672T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5236;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.169494;CSQ_gnomADe_AC=44676;CSQ_gnomADe_AN=245290;CSQ_gnomADe_AF=0.182135;CSQ_gnomADe_Hom=4388;CSQ_COSMICcMuts=COSV65385146;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=0.133;CSQ_Mastermind_MMID3=TET1:S193T;CSQ_CADD_PHRED=15.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,19:163:0.11656:65:-100:0.133:1,11,2,3,1,1,25,54,23,24,7,30:100:100 +10 70332862 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.767C>T;CSQ_HGVSp=NP_085128.2:p.Ala256Val;CSQ_HGVSg=10:g.70332862C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2759;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0891726;CSQ_gnomADe_AC=28530;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.115874;CSQ_gnomADe_Hom=2111;CSQ_COSMICcMuts=COSV65382651;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=0.075;CSQ_Mastermind_MMID3=TET1:A256V;CSQ_CADD_PHRED=16.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,15:130:0.11538:65:-100:0.1503:2,7,1,1,1,3,19,42,16,21,13,19:100:100 +10 70333803 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.1708A>G;CSQ_HGVSp=NP_085128.2:p.Ser570Gly;CSQ_HGVSg=10:g.70333803A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=73;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00235727;CSQ_gnomADe_AC=110;CSQ_gnomADe_AN=246248;CSQ_gnomADe_AF=0.000446704;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.133;CSQ_Mastermind_MMID3=TET1:S570G;CSQ_CADD_PHRED=13.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,21:157:0.13376:65:-100:0.1467:1,9,1,2,3,5,28,50,10,27,12,30:100:100 +10 70404981 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.2495G>A;CSQ_HGVSp=NP_085128.2:p.Cys832Tyr;CSQ_HGVSg=10:g.70404981G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=778462;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=674;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0217672;CSQ_gnomADe_AC=1296;CSQ_gnomADe_AN=246056;CSQ_gnomADe_AF=0.00526709;CSQ_gnomADe_Hom=53;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.069;CSQ_Mastermind_MMID3=TET1:C832Y;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,9:136:0.06618:65:-97.1625:0.0933:0,4,0,5,0,0,16,52,9,30,8,21:100:100 +10 70405237 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=TET1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.2751G>A;CSQ_HGVSp=NP_085128.2:p.Glu917%3D;CSQ_HGVSg=10:g.70405237G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1254116;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6607;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.213625;CSQ_gnomADe_AC=38682;CSQ_gnomADe_AN=245518;CSQ_gnomADe_AF=0.157553;CSQ_gnomADe_Hom=3622;CSQ_COSMICcMuts=COSV65383167;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TET1:E917E;CSQ_CADD_PHRED=7.287 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,29:166:0.1747:65:-100:0.1354:2,8,1,5,4,9,18,59,9,31,13,36:100:100 +10 70405439 . G T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.2953G>T;CSQ_HGVSp=NP_085128.2:p.Ala985Ser;CSQ_HGVSg=10:g.70405439G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=778463;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=670;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0216366;CSQ_gnomADe_AC=1295;CSQ_gnomADe_AN=246186;CSQ_gnomADe_AF=0.00526025;CSQ_gnomADe_Hom=53;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.114;CSQ_Mastermind_MMID3=TET1:A985S;CSQ_CADD_PHRED=12.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,15:139:0.10791:65:-100:0.0974:3,3,4,3,1,1,29,37,15,25,13,20:100:100 +10 70405805 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.3319C>T;CSQ_HGVSp=NP_085128.2:p.Leu1107Phe;CSQ_HGVSg=10:g.70405805C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65388595;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.047;CSQ_Mastermind_MMID3=TET1:L1107F;CSQ_CADD_PHRED=18.67 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,8:133:0.06015:65:-100:0.1419:2,4,2,0,0,0,28,46,5,28,13,13:89.477:100 +10 70405855 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=TET1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.3369A>G;CSQ_HGVSp=NP_085128.2:p.Ile1123Met;CSQ_HGVSg=10:g.70405855A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21836;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.706667;CSQ_gnomADe_AC=190987;CSQ_gnomADe_AN=245668;CSQ_gnomADe_AF=0.777419;CSQ_gnomADe_Hom=75288;CSQ_COSMICcMuts=COSV65385549;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=0.060;CSQ_Mastermind_MMID3=TET1:I1123M;CSQ_CADD_PHRED=5.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,101:141:0.71631:65:-100:0.1188:17,33,6,27,7,11,29,40,10,35,10,17:100:100 +10 70441156 . GA G 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=TET1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_030625.3;CSQ_HGVSc=NM_030625.3:c.4832del;CSQ_HGVSp=NP_085128.2:p.Asn1611ThrfsTer13;CSQ_HGVSg=10:g.70441163del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65382430;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,12:123:0.09756:65:-100:0:2,6,0,0,2,2,26,38,14,20,8,17:100:100 +10 88651972 . G A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=BMPR1A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/13;CSQ_INTRON=.;CSQ_Feature=NM_004329.3;CSQ_HGVSc=NM_004329.3:c.319G>A;CSQ_HGVSp=NP_004320.2:p.Asp107Asn;CSQ_HGVSg=10:g.88651972G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63135038;CSQ_COSMICncMuts=COSV63135038&COSV63135038;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.520;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,16:114:0.14035:65:-100:0.1231:1,7,2,3,0,3,14,47,7,25,2,19:100:100 +10 89652483 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=PTEN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/8;CSQ_Feature=NM_000314.8;CSQ_HGVSc=NM_000314.8:c.80-1299T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.89652483T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1112;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0359638;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.952 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,13:130:0.1:65:-100:0.1156:2,3,1,5,1,1,19,38,15,28,13,17:100:100 +10 89674068 . G A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=PTEN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/8;CSQ_Feature=NM_000314.8;CSQ_HGVSc=NM_000314.8:c.165-11202G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.89674068G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.394 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,7:110:0.06364:65:-100:0.1603:0,2,1,0,1,3,23,28,14,14,5,26:65.924:100 +10 89676032 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=PTEN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/8;CSQ_Feature=NM_000314.8;CSQ_HGVSc=NM_000314.8:c.165-9238G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.89676032G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=600;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0193761;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTEN:R228int&PTEN:R228inta&PTEN:R55int&PTEN:R55inta;CSQ_CADD_PHRED=5.145 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,17:128:0.13281:65:-100:0.1172:1,9,1,2,1,3,24,42,11,17,8,26:100:100 +10 89705429 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=PTEN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_000314.8;CSQ_HGVSc=NM_000314.8:c.493-6446G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.89705429G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11673;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.377547;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTEN:K164int&PTEN:K164inta&PTEN:K337int&PTEN:K337inta;CSQ_CADD_PHRED=2.828 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,66:129:0.51163:65:-100:0.1164:7,29,3,13,4,10,23,50,11,21,7,17:100:100 +10 90762801 . G A 100 PASS DP=95;CSQ_Allele=A;CSQ_SYMBOL=FAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_000043.6;CSQ_HGVSc=NM_000043.6:c.46G>A;CSQ_HGVSp=NP_000034.1:p.Ala16Thr;CSQ_HGVSg=10:g.90762801G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134371;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified¬_provided;CSQ_gnomADg_AC=1119;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0361364;CSQ_gnomADe_AC=2366;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=0.00960859;CSQ_gnomADe_Hom=125;CSQ_COSMICcMuts=COSV58238630&COSV58238630&COSV58238630&COSV58238630;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.273;CSQ_Mastermind_MMID3=FAS:A16T;CSQ_CADD_PHRED=11.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,8:95:0.08421:65:-100:0.1441:4,2,0,1,1,0,16,33,9,11,8,18:100:100 +10 90762801 . G A 100 PASS DP=95;CSQ_Allele=A;CSQ_SYMBOL=FAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_152871.4;CSQ_HGVSc=NM_152871.4:c.46G>A;CSQ_HGVSp=NP_690610.1:p.Ala16Thr;CSQ_HGVSg=10:g.90762801G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134371;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified¬_provided;CSQ_gnomADg_AC=1119;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0361364;CSQ_gnomADe_AC=2366;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=0.00960859;CSQ_gnomADe_Hom=125;CSQ_COSMICcMuts=COSV58238630&COSV58238630&COSV58238630&COSV58238630;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.273;CSQ_Mastermind_MMID3=FAS:A16T;CSQ_CADD_PHRED=11.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,8:95:0.08421:65:-100:0.1441:4,2,0,1,1,0,16,33,9,11,8,18:100:100 +10 90762858 . T C 100 PASS DP=86;CSQ_Allele=C;CSQ_SYMBOL=FAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_000043.6;CSQ_HGVSc=NM_000043.6:c.103T>C;CSQ_HGVSp=NP_000034.1:p.Leu35%3D;CSQ_HGVSg=10:g.90762858T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=301524;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified;CSQ_gnomADg_AC=28;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000904159;CSQ_gnomADe_AC=1054;CSQ_gnomADe_AN=246222;CSQ_gnomADe_AF=0.00428069;CSQ_gnomADe_Hom=17;CSQ_COSMICcMuts=COSV58238787&COSV58238787&COSV58238787&COSV58238787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.141 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,9:86:0.10465:65:-100:0.2037:1,4,1,0,1,2,18,28,4,12,6,18:100:100 +10 90762858 . T C 100 PASS DP=86;CSQ_Allele=C;CSQ_SYMBOL=FAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_152871.4;CSQ_HGVSc=NM_152871.4:c.103T>C;CSQ_HGVSp=NP_690610.1:p.Leu35%3D;CSQ_HGVSg=10:g.90762858T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=301524;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified;CSQ_gnomADg_AC=28;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000904159;CSQ_gnomADe_AC=1054;CSQ_gnomADe_AN=246222;CSQ_gnomADe_AF=0.00428069;CSQ_gnomADe_Hom=17;CSQ_COSMICcMuts=COSV58238787&COSV58238787&COSV58238787&COSV58238787;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.141 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,9:86:0.10465:65:-100:0.2037:1,4,1,0,1,2,18,28,4,12,6,18:100:100 +10 90762896 . G A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=FAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_000043.6;CSQ_HGVSc=NM_000043.6:c.141G>A;CSQ_HGVSp=NP_000034.1:p.Gln47%3D;CSQ_HGVSg=10:g.90762896G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=301525;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified;CSQ_gnomADg_AC=594;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0191749;CSQ_gnomADe_AC=1221;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.00495906;CSQ_gnomADe_Hom=35;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAS:Q47Q;CSQ_CADD_PHRED=0.487 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,16:98:0.16327:65:-100:0.1171:3,4,1,3,1,4,17,34,4,14,8,21:100:100 +10 90762896 . G A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=FAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_152871.4;CSQ_HGVSc=NM_152871.4:c.141G>A;CSQ_HGVSp=NP_690610.1:p.Gln47%3D;CSQ_HGVSg=10:g.90762896G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=301525;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified;CSQ_gnomADg_AC=594;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0191749;CSQ_gnomADe_AC=1221;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.00495906;CSQ_gnomADe_Hom=35;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAS:Q47Q;CSQ_CADD_PHRED=0.487 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,16:98:0.16327:65:-100:0.1171:3,4,1,3,1,4,17,34,4,14,8,21:100:100 +10 90767482 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=FAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_000043.6;CSQ_HGVSc=NM_000043.6:c.222A>G;CSQ_HGVSp=NP_000034.1:p.Thr74%3D;CSQ_HGVSg=10:g.90767482A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=301527;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_provided;CSQ_gnomADg_AC=1037;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.033497;CSQ_gnomADe_AC=15673;CSQ_gnomADe_AN=246088;CSQ_gnomADe_AF=0.0636886;CSQ_gnomADe_Hom=1104;CSQ_COSMICcMuts=COSV58238795&COSV58238795&COSV58238795&COSV58238795;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAS:T74T;CSQ_CADD_PHRED=2.700 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,16:116:0.13793:65:-100:0.1533:2,5,2,4,1,2,19,34,12,24,8,19:100:100 +10 90767482 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=FAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_152871.4;CSQ_HGVSc=NM_152871.4:c.222A>G;CSQ_HGVSp=NP_690610.1:p.Thr74%3D;CSQ_HGVSg=10:g.90767482A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=301527;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_provided;CSQ_gnomADg_AC=1037;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.033497;CSQ_gnomADe_AC=15673;CSQ_gnomADe_AN=246088;CSQ_gnomADe_AF=0.0636886;CSQ_gnomADe_Hom=1104;CSQ_COSMICcMuts=COSV58238795&COSV58238795&COSV58238795&COSV58238795;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAS:T74T;CSQ_CADD_PHRED=2.700 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,16:116:0.13793:65:-100:0.1533:2,5,2,4,1,2,19,34,12,24,8,19:100:100 +10 90767575 . A T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=FAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_000043.6;CSQ_HGVSc=NM_000043.6:c.315A>T;CSQ_HGVSp=NP_000034.1:p.Arg105Ser;CSQ_HGVSg=10:g.90767575A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58239879&COSV58239879&COSV58239879&COSV58239879;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.226;CSQ_Mastermind_MMID3=FAS:R105S;CSQ_CADD_PHRED=6.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,9:125:0.072:65:-100:0.1379:1,3,1,2,0,2,23,31,12,24,10,25:100:100 +10 90767575 . A T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=FAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_152871.4;CSQ_HGVSc=NM_152871.4:c.315A>T;CSQ_HGVSp=NP_690610.1:p.Arg105Ser;CSQ_HGVSg=10:g.90767575A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58239879&COSV58239879&COSV58239879&COSV58239879;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.226;CSQ_Mastermind_MMID3=FAS:R105S;CSQ_CADD_PHRED=6.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,9:125:0.072:65:-100:0.1379:1,3,1,2,0,2,23,31,12,24,10,25:100:100 +10 90768676 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=FAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/9;CSQ_INTRON=.;CSQ_Feature=NM_000043.6;CSQ_HGVSc=NM_000043.6:c.365C>T;CSQ_HGVSp=NP_000034.1:p.Thr122Ile;CSQ_HGVSg=10:g.90768676C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134372;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified¬_provided;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.007813;CSQ_gnomADe_AC=491;CSQ_gnomADe_AN=246226;CSQ_gnomADe_AF=0.0019941;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.335;CSQ_Mastermind_MMID3=FAS:T122I;CSQ_CADD_PHRED=18.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,17:142:0.11972:65:-100:0.1069:4,7,0,2,4,0,21,48,10,29,10,24:100:100 +10 90768676 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=FAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_152871.4;CSQ_HGVSc=NM_152871.4:c.365C>T;CSQ_HGVSp=NP_690610.1:p.Thr122Ile;CSQ_HGVSg=10:g.90768676C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134372;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified¬_provided;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.007813;CSQ_gnomADe_AC=491;CSQ_gnomADe_AN=246226;CSQ_gnomADe_AF=0.0019941;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.335;CSQ_Mastermind_MMID3=FAS:T122I;CSQ_CADD_PHRED=18.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,17:142:0.11972:65:-100:0.1069:4,7,0,2,4,0,21,48,10,29,10,24:100:100 +10 90771829 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=FAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/9;CSQ_INTRON=.;CSQ_Feature=NM_000043.6;CSQ_HGVSc=NM_000043.6:c.642T>C;CSQ_HGVSp=NP_000034.1:p.Thr214%3D;CSQ_HGVSg=10:g.90771829T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=254734;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified¬_provided;CSQ_gnomADg_AC=22665;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.732784;CSQ_gnomADe_AC=188167;CSQ_gnomADe_AN=245926;CSQ_gnomADe_AF=0.765137;CSQ_gnomADe_Hom=72996;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAS:G190int&FAS:G190intd&FAS:T193T&FAS:T214T;CSQ_CADD_PHRED=0.358 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,50:107:0.46729:65:-100:0.1083:8,13,1,10,6,12,15,36,6,21,9,20:100:100 +10 90771829 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=FAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_152871.4;CSQ_HGVSc=NM_152871.4:c.579T>C;CSQ_HGVSp=NP_690610.1:p.Thr193%3D;CSQ_HGVSg=10:g.90771829T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=254734;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autoimmune_lymphoproliferative_syndrome_type_1¬_specified¬_provided;CSQ_gnomADg_AC=22665;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.732784;CSQ_gnomADe_AC=188167;CSQ_gnomADe_AN=245926;CSQ_gnomADe_AF=0.765137;CSQ_gnomADe_Hom=72996;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAS:G190int&FAS:G190intd&FAS:T193T&FAS:T214T;CSQ_CADD_PHRED=0.358 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,50:107:0.46729:65:-100:0.1083:8,13,1,10,6,12,15,36,6,21,9,20:100:100 +10 103532650 . C G 100 PASS DP=169;CSQ_Allele=G;CSQ_SYMBOL=FGF8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_001206389.2;CSQ_HGVSc=NM_001206389.2:c.26-1324G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103532650C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.036 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,9:169:0.05325:65:-100:0.1105:1,1,2,3,2,0,32,69,13,26,9,20:100:100 +10 103532650 . C G 100 PASS DP=169;CSQ_Allele=G;CSQ_SYMBOL=FGF8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_006119.6;CSQ_HGVSc=NM_006119.6:c.251-1324G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103532650C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.036 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,9:169:0.05325:65:-100:0.1105:1,1,2,3,2,0,32,69,13,26,9,20:100:100 +10 103532650 . C G 100 PASS DP=169;CSQ_Allele=G;CSQ_SYMBOL=FGF8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/5;CSQ_Feature=NM_033163.5;CSQ_HGVSc=NM_033163.5:c.338-1324G>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103532650C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.036 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,9:169:0.05325:65:-100:0.1105:1,1,2,3,2,0,32,69,13,26,9,20:100:100 +10 103537249 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=FGF8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_001206389.2;CSQ_HGVSc=NM_001206389.2:c.-160-1716G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103537249C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=95;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00306808;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.135 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,9:144:0.0625:65:-100:0.1818:3,3,1,2,0,0,18,53,11,25,15,22:100:100 +10 103537249 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=FGF8;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_006119.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103537249C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=95;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00306808;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.135 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,9:144:0.0625:65:-100:0.1818:3,3,1,2,0,0,18,53,11,25,15,22:100:100 +10 103537249 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=FGF8;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_033163.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103537249C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=95;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00306808;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.135 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,9:144:0.0625:65:-100:0.1818:3,3,1,2,0,0,18,53,11,25,15,22:100:100 +10 103539893 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=FGF8;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_001206389.2;CSQ_HGVSc=NM_001206389.2:c.-161+160G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103539893C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.377 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,7:106:0.06604:65:-100:0.1783:1,3,0,1,1,1,26,30,11,12,12,15:83.092:100 +10 103539893 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=FGF8;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_006119.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103539893C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.377 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,7:106:0.06604:65:-100:0.1783:1,3,0,1,1,1,26,30,11,12,12,15:83.092:100 +10 103539893 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=FGF8;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_033163.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.103539893C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.377 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,7:106:0.06604:65:-100:0.1783:1,3,0,1,1,1,26,30,11,12,12,15:83.092:100 +10 104386934 . T C 100 PASS DP=154;CSQ_Allele=C;CSQ_SYMBOL=SUFU;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/12;CSQ_INTRON=.;CSQ_Feature=NM_016169.4;CSQ_HGVSc=NM_016169.4:c.1299T>C;CSQ_HGVSp=NP_057253.2:p.Ile433%3D;CSQ_HGVSg=10:g.104386934T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=260687;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Medulloblastoma&Gorlin_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4603;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.148733;CSQ_gnomADe_AC=39264;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.159441;CSQ_gnomADe_Hom=4546;CSQ_COSMICcMuts=COSV64017293;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SUFU:I433I&SUFU:Q432sra;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,34:154:0.22078:65:-100:0.1585:10,11,4,6,1,2,32,53,13,29,7,20:100:100 +10 112337634 . CA C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=SMC3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=6/29;CSQ_INTRON=.;CSQ_Feature=NM_005445.4;CSQ_HGVSc=NM_005445.4:c.317del;CSQ_HGVSp=NP_005436.1:p.Lys106ArgfsTer6;CSQ_HGVSg=10:g.112337639del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62419133;CSQ_COSMICncMuts=COSV62419133;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,13:126:0.10317:65:-100:0:0,6,3,3,1,0,30,34,15,18,6,23:100:100 +10 112337693 . T A 100 PASS DP=86;CSQ_Allele=A;CSQ_SYMBOL=SMC3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/28;CSQ_Feature=NM_005445.4;CSQ_HGVSc=NM_005445.4:c.350+21T>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.112337693T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259770;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=3648;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.118142;CSQ_gnomADe_AC=37313;CSQ_gnomADe_AN=244260;CSQ_gnomADe_AF=0.152759;CSQ_gnomADe_Hom=3349;CSQ_COSMICcMuts=COSV62418744;CSQ_COSMICncMuts=COSV62418744;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMC3:T117int&SMC3:T117intd;CSQ_CADD_PHRED=3.957 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,6:86:0.06977:65:-100:0.181:0,2,1,0,2,1,13,30,6,17,10,10:85.258:100 +10 112338377 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=SMC3;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=6/28;CSQ_Feature=NM_005445.4;CSQ_HGVSc=NM_005445.4:c.351-9T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.112338377T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159986;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cornelia_de_Lange_syndrome_3¬_specified;CSQ_gnomADg_AC=1875;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0605464;CSQ_gnomADe_AC=9651;CSQ_gnomADe_AN=230634;CSQ_gnomADe_AF=0.0418455;CSQ_gnomADe_Hom=260;CSQ_COSMICcMuts=COSV62419192;CSQ_COSMICncMuts=COSV62419192;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMC3:T117int&SMC3:T117inta;CSQ_CADD_PHRED=21.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,9:114:0.07895:65:-100:0.1364:1,5,0,1,1,1,14,36,11,21,10,22:100:100 +10 112341673 . C CTT 100 PASS DP=105;CSQ_Allele=TT;CSQ_SYMBOL=SMC3;CSQ_Consequence=splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=8/28;CSQ_Feature=NM_005445.4;CSQ_HGVSc=NM_005445.4:c.548-5_548-4dup;CSQ_HGVSp=.;CSQ_HGVSg=10:g.112341676_112341677dup;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=159989;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cornelia_de_Lange_syndrome_3&De_Lange_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=1870;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0604513;CSQ_gnomADe_AC=10433;CSQ_gnomADe_AN=245806;CSQ_gnomADe_AF=0.042444;CSQ_gnomADe_Hom=289;CSQ_COSMICcMuts=COSV62419194;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMC3:E183int&SMC3:E183inta&SMC3:E183sra;CSQ_CADD_PHRED=2.851 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,12:105:0.11429:65:-100:0:1,5,1,5,0,0,19,30,7,24,5,21:100:100 +10 112343923 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=SMC3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/28;CSQ_Feature=NM_005445.4;CSQ_HGVSc=NM_005445.4:c.1092-18T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.112343923T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259765;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cornelia_de_Lange_syndrome_3¬_specified;CSQ_gnomADg_AC=3617;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.116768;CSQ_gnomADe_AC=37336;CSQ_gnomADe_AN=246124;CSQ_gnomADe_AF=0.151696;CSQ_gnomADe_Hom=3357;CSQ_COSMICcMuts=COSV62421733;CSQ_COSMICncMuts=COSV62421733;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMC3:R364int&SMC3:R364inta;CSQ_CADD_PHRED=2.817 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,11:107:0.1028:65:-100:0.144:2,3,0,1,2,3,18,34,5,15,12,23:100:100 +10 112349422 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=SMC3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/29;CSQ_INTRON=.;CSQ_Feature=NM_005445.4;CSQ_HGVSc=NM_005445.4:c.1365T>C;CSQ_HGVSp=NP_005436.1:p.Tyr455%3D;CSQ_HGVSg=10:g.112349422T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159967;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cornelia_de_Lange_syndrome_3&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1867;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0603153;CSQ_gnomADe_AC=10390;CSQ_gnomADe_AN=244926;CSQ_gnomADe_AF=0.042421;CSQ_gnomADe_Hom=285;CSQ_COSMICcMuts=COSV62419195;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMC3:Y455Y;CSQ_CADD_PHRED=9.227 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,14:111:0.12613:65:-100:0.1591:2,6,3,0,2,1,23,36,13,19,5,15:100:100 +10 112361765 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=SMC3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/29;CSQ_INTRON=.;CSQ_Feature=NM_005445.4;CSQ_HGVSc=NM_005445.4:c.2934G>A;CSQ_HGVSp=NP_005436.1:p.Lys978%3D;CSQ_HGVSg=10:g.112361765G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159983;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(2)&Likely_benign(3);CSQ_ClinVar_CLNDN=Cornelia_de_Lange_syndrome_3&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=35;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.00113093;CSQ_gnomADe_AC=273;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.00110967;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.961 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,8:140:0.05714:65:-46.8046:0.0968:1,4,0,1,0,2,24,49,9,26,12,20:82.761:100 +10 112361870 . A G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=SMC3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/29;CSQ_INTRON=.;CSQ_Feature=NM_005445.4;CSQ_HGVSc=NM_005445.4:c.3039A>G;CSQ_HGVSp=NP_005436.1:p.Ser1013%3D;CSQ_HGVSg=10:g.112361870A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159985;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cornelia_de_Lange_syndrome_3&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=30648;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.989731;CSQ_gnomADe_AC=245313;CSQ_gnomADe_AN=246088;CSQ_gnomADe_AF=0.996851;CSQ_gnomADe_Hom=122279;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMC3:S1013S;CSQ_CADD_PHRED=3.875 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:1,130:131:0.99237:65:-100:0.0966:23,46,9,19,10,23,23,47,9,19,10,23:100:100 +10 114710560 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/14;CSQ_INTRON=.;CSQ_Feature=NM_001146274.2;CSQ_HGVSc=NM_001146274.2:c.45C>T;CSQ_HGVSp=NP_001139746.1:p.Asn15%3D;CSQ_HGVSg=10:g.114710560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=780893;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=329;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.0107075;CSQ_gnomADe_AC=532;CSQ_gnomADe_AN=213816;CSQ_gnomADe_AF=0.00248812;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,14:127:0.11024:65:-100:0.1533:1,9,2,1,0,1,18,46,14,17,15,17:100:100 +10 114710560 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001146283.2;CSQ_HGVSc=NM_001146283.2:c.45C>T;CSQ_HGVSp=NP_001139755.1:p.Asn15%3D;CSQ_HGVSg=10:g.114710560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=780893;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=329;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.0107075;CSQ_gnomADe_AC=532;CSQ_gnomADe_AN=213816;CSQ_gnomADe_AF=0.00248812;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,14:127:0.11024:65:-100:0.1533:1,9,2,1,0,1,18,46,14,17,15,17:100:100 +10 114710560 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001146284.2;CSQ_HGVSc=NM_001146284.2:c.45C>T;CSQ_HGVSp=NP_001139756.1:p.Asn15%3D;CSQ_HGVSg=10:g.114710560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=780893;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=329;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.0107075;CSQ_gnomADe_AC=532;CSQ_gnomADe_AN=213816;CSQ_gnomADe_AF=0.00248812;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,14:127:0.11024:65:-100:0.1533:1,9,2,1,0,1,18,46,14,17,15,17:100:100 +10 114710560 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001146285.2;CSQ_HGVSc=NM_001146285.2:c.45C>T;CSQ_HGVSp=NP_001139757.1:p.Asn15%3D;CSQ_HGVSg=10:g.114710560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=780893;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=329;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.0107075;CSQ_gnomADe_AC=532;CSQ_gnomADe_AN=213816;CSQ_gnomADe_AF=0.00248812;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,14:127:0.11024:65:-100:0.1533:1,9,2,1,0,1,18,46,14,17,15,17:100:100 +10 114710560 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/15;CSQ_INTRON=.;CSQ_Feature=NM_001198525.2;CSQ_HGVSc=NM_001198525.2:c.45C>T;CSQ_HGVSp=NP_001185454.1:p.Asn15%3D;CSQ_HGVSg=10:g.114710560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=780893;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=329;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.0107075;CSQ_gnomADe_AC=532;CSQ_gnomADe_AN=213816;CSQ_gnomADe_AF=0.00248812;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,14:127:0.11024:65:-100:0.1533:1,9,2,1,0,1,18,46,14,17,15,17:100:100 +10 114710560 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/15;CSQ_INTRON=.;CSQ_Feature=NM_001198527.2;CSQ_HGVSc=NM_001198527.2:c.45C>T;CSQ_HGVSp=NP_001185456.1:p.Asn15%3D;CSQ_HGVSg=10:g.114710560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=780893;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=329;CSQ_gnomADg_AN=30726;CSQ_gnomADg_AF=0.0107075;CSQ_gnomADe_AC=532;CSQ_gnomADe_AN=213816;CSQ_gnomADe_AF=0.00248812;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,14:127:0.11024:65:-100:0.1533:1,9,2,1,0,1,18,46,14,17,15,17:100:100 +10 114724349 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/14;CSQ_INTRON=.;CSQ_Feature=NM_001146274.2;CSQ_HGVSc=NM_001146274.2:c.416C>T;CSQ_HGVSp=NP_001139746.1:p.Ala139Val;CSQ_HGVSg=10:g.114724349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=245902;CSQ_gnomADe_AF=2.03333e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=0.558;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,14:148:0.09459:65:-100:0.1345:1,8,1,2,1,1,21,52,11,23,11,30:100:100 +10 114724349 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/12;CSQ_Feature=NM_001146283.2;CSQ_HGVSc=NM_001146283.2:c.381+12983C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.114724349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=245902;CSQ_gnomADe_AF=2.03333e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,14:148:0.09459:65:-100:0.1345:1,8,1,2,1,1,21,52,11,23,11,30:100:100 +10 114724349 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/12;CSQ_Feature=NM_001146284.2;CSQ_HGVSc=NM_001146284.2:c.381+12983C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.114724349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=245902;CSQ_gnomADe_AF=2.03333e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,14:148:0.09459:65:-100:0.1345:1,8,1,2,1,1,21,52,11,23,11,30:100:100 +10 114724349 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/12;CSQ_Feature=NM_001146285.2;CSQ_HGVSc=NM_001146285.2:c.381+12983C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.114724349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=245902;CSQ_gnomADe_AF=2.03333e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,14:148:0.09459:65:-100:0.1345:1,8,1,2,1,1,21,52,11,23,11,30:100:100 +10 114724349 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/14;CSQ_Feature=NM_001198525.2;CSQ_HGVSc=NM_001198525.2:c.381+12983C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.114724349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=245902;CSQ_gnomADe_AF=2.03333e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,14:148:0.09459:65:-100:0.1345:1,8,1,2,1,1,21,52,11,23,11,30:100:100 +10 114724349 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/14;CSQ_Feature=NM_001198527.2;CSQ_HGVSc=NM_001198527.2:c.381+12983C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.114724349C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=245902;CSQ_gnomADe_AF=2.03333e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320&COSV60510320;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,14:148:0.09459:65:-100:0.1345:1,8,1,2,1,1,21,52,11,23,11,30:100:100 +10 114925369 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001146274.2;CSQ_HGVSc=NM_001146274.2:c.1447C>A;CSQ_HGVSp=NP_001139746.1:p.Pro483Thr;CSQ_HGVSg=10:g.114925369C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1239735;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1126;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.0364661;CSQ_gnomADe_AC=12787;CSQ_gnomADe_AN=245860;CSQ_gnomADe_AF=0.0520093;CSQ_gnomADe_Hom=771;CSQ_COSMICcMuts=COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309;CSQ_COSMICncMuts=COSV53337309&COSV53337309;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.378;CSQ_Mastermind_MMID3=TCF7L2:3UTR&TCF7L2:H401Q&TCF7L2:H435Q&TCF7L2:H448Q&TCF7L2:H452Q&TCF7L2:H458Q&TCF7L2:H475Q&TCF7L2:H482Q&TCF7L2:P460T&TCF7L2:P477T&TCF7L2:P483T&TCF7L2:P500T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,14:106:0.13208:65:-100:0.3416:2,2,1,2,2,5,26,22,10,17,8,23:100:100 +10 114925369 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001146283.2;CSQ_HGVSc=NM_001146283.2:c.1446C>A;CSQ_HGVSp=NP_001139755.1:p.His482Gln;CSQ_HGVSg=10:g.114925369C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1239735;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1126;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.0364661;CSQ_gnomADe_AC=12787;CSQ_gnomADe_AN=245860;CSQ_gnomADe_AF=0.0520093;CSQ_gnomADe_Hom=771;CSQ_COSMICcMuts=COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309;CSQ_COSMICncMuts=COSV53337309&COSV53337309;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.377;CSQ_Mastermind_MMID3=TCF7L2:3UTR&TCF7L2:H401Q&TCF7L2:H435Q&TCF7L2:H448Q&TCF7L2:H452Q&TCF7L2:H458Q&TCF7L2:H475Q&TCF7L2:H482Q&TCF7L2:P460T&TCF7L2:P477T&TCF7L2:P483T&TCF7L2:P500T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,14:106:0.13208:65:-100:0.3416:2,2,1,2,2,5,26,22,10,17,8,23:100:100 +10 114925369 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001146284.2;CSQ_HGVSc=NM_001146284.2:c.1344C>A;CSQ_HGVSp=NP_001139756.1:p.His448Gln;CSQ_HGVSg=10:g.114925369C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1239735;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1126;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.0364661;CSQ_gnomADe_AC=12787;CSQ_gnomADe_AN=245860;CSQ_gnomADe_AF=0.0520093;CSQ_gnomADe_Hom=771;CSQ_COSMICcMuts=COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309;CSQ_COSMICncMuts=COSV53337309&COSV53337309;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.377;CSQ_Mastermind_MMID3=TCF7L2:3UTR&TCF7L2:H401Q&TCF7L2:H435Q&TCF7L2:H448Q&TCF7L2:H452Q&TCF7L2:H458Q&TCF7L2:H475Q&TCF7L2:H482Q&TCF7L2:P460T&TCF7L2:P477T&TCF7L2:P483T&TCF7L2:P500T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,14:106:0.13208:65:-100:0.3416:2,2,1,2,2,5,26,22,10,17,8,23:100:100 +10 114925369 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001146285.2;CSQ_HGVSc=NM_001146285.2:c.1378C>A;CSQ_HGVSp=NP_001139757.1:p.Pro460Thr;CSQ_HGVSg=10:g.114925369C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1239735;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1126;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.0364661;CSQ_gnomADe_AC=12787;CSQ_gnomADe_AN=245860;CSQ_gnomADe_AF=0.0520093;CSQ_gnomADe_Hom=771;CSQ_COSMICcMuts=COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309;CSQ_COSMICncMuts=COSV53337309&COSV53337309;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.378;CSQ_Mastermind_MMID3=TCF7L2:3UTR&TCF7L2:H401Q&TCF7L2:H435Q&TCF7L2:H448Q&TCF7L2:H452Q&TCF7L2:H458Q&TCF7L2:H475Q&TCF7L2:H482Q&TCF7L2:P460T&TCF7L2:P477T&TCF7L2:P483T&TCF7L2:P500T;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,14:106:0.13208:65:-100:0.3416:2,2,1,2,2,5,26,22,10,17,8,23:100:100 +10 114925369 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001198525.2;CSQ_HGVSc=NM_001198525.2:c.*86C>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.114925369C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1239735;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1126;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.0364661;CSQ_gnomADe_AC=12787;CSQ_gnomADe_AN=245860;CSQ_gnomADe_AF=0.0520093;CSQ_gnomADe_Hom=771;CSQ_COSMICcMuts=COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309;CSQ_COSMICncMuts=COSV53337309&COSV53337309;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,14:106:0.13208:65:-100:0.3416:2,2,1,2,2,5,26,22,10,17,8,23:100:100 +10 114925369 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=TCF7L2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001198527.2;CSQ_HGVSc=NM_001198527.2:c.*74C>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.114925369C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1239735;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1126;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.0364661;CSQ_gnomADe_AC=12787;CSQ_gnomADe_AN=245860;CSQ_gnomADe_AF=0.0520093;CSQ_gnomADe_Hom=771;CSQ_COSMICcMuts=COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309&COSV53337309;CSQ_COSMICncMuts=COSV53337309&COSV53337309;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,14:106:0.13208:65:-100:0.3416:2,2,1,2,2,5,26,22,10,17,8,23:100:100 +10 123239112 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123239112G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=298991;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified¬_provided;CSQ_gnomADg_AC=12960;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.419065;CSQ_gnomADe_AC=82695;CSQ_gnomADe_AN=148768;CSQ_gnomADe_AF=0.555866;CSQ_gnomADe_Hom=24463;CSQ_COSMICcMuts=COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447;CSQ_COSMICncMuts=COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,60:159:0.37736:65:-100:0.1846:6,26,7,11,2,8,20,63,14,31,7,24:100:100 +10 123239112 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.*259C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123239112G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=298991;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified¬_provided;CSQ_gnomADg_AC=12960;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.419065;CSQ_gnomADe_AC=82695;CSQ_gnomADe_AN=148768;CSQ_gnomADe_AF=0.555866;CSQ_gnomADe_Hom=24463;CSQ_COSMICcMuts=COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447;CSQ_COSMICncMuts=COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,60:159:0.37736:65:-100:0.1846:6,26,7,11,2,8,20,63,14,31,7,24:100:100 +10 123239112 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=18/18;CSQ_INTRON=.;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.*259C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123239112G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=298991;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified¬_provided;CSQ_gnomADg_AC=12960;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.419065;CSQ_gnomADe_AC=82695;CSQ_gnomADe_AN=148768;CSQ_gnomADe_AF=0.555866;CSQ_gnomADe_Hom=24463;CSQ_COSMICcMuts=COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447;CSQ_COSMICncMuts=COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447&COSV60638447;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.88 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,60:159:0.37736:65:-100:0.1846:6,26,7,11,2,8,20,63,14,31,7,24:100:100 +10 123240276 . GA G 100 PASS DP=139;CSQ_Allele=-;CSQ_SYMBOL=FGFR2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240279del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=690;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0222998;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0:2,3,1,4,0,3,23,41,8,23,14,30:100:100 +10 123240276 . GA G 100 PASS DP=139;CSQ_Allele=-;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1957-742del;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240279del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=690;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0222998;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0:2,3,1,4,0,3,23,41,8,23,14,30:100:100 +10 123240276 . GA G 100 PASS DP=139;CSQ_Allele=-;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2305-742del;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240279del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=690;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0222998;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0:2,3,1,4,0,3,23,41,8,23,14,30:100:100 +10 123240287 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240287T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30275;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.978191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.669 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,122:122:1:65:-100:0.1348:22,37,6,22,12,23,22,37,6,22,12,23:100:100 +10 123240287 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1957-752A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240287T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30275;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.978191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.669 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,122:122:1:65:-100:0.1348:22,37,6,22,12,23,22,37,6,22,12,23:100:100 +10 123240287 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2305-752A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240287T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30275;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.978191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.669 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,122:122:1:65:-100:0.1348:22,37,6,22,12,23,22,37,6,22,12,23:100:100 +10 123240612 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240612C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,11:121:0.09091:65:-100:0.1597:3,4,0,1,1,2,21,44,7,17,12,20:100:100 +10 123240612 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1957-1077G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240612C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,11:121:0.09091:65:-100:0.1597:3,4,0,1,1,2,21,44,7,17,12,20:100:100 +10 123240612 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2305-1077G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240612C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,11:121:0.09091:65:-100:0.1597:3,4,0,1,1,2,21,44,7,17,12,20:100:100 +10 123240625 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240625A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16850;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.545837;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.149 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,62:120:0.51667:65:-100:0.1367:9,19,3,16,4,11,20,41,9,22,6,22:100:100 +10 123240625 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1957-1090T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240625A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16850;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.545837;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539inta&FGFR2:E650int&FGFR2:E650inta&FGFR2:E651int&FGFR2:E651inta&FGFR2:E652int&FGFR2:E652inta&FGFR2:E655int&FGFR2:E655inta&FGFR2:E678int&FGFR2:E678inta&FGFR2:E765int&FGFR2:E765inta&FGFR2:E767int&FGFR2:E767inta&FGFR2:E768int&FGFR2:E768inta;CSQ_CADD_PHRED=0.149 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,62:120:0.51667:65:-100:0.1367:9,19,3,16,4,11,20,41,9,22,6,22:100:100 +10 123240625 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2305-1090T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240625A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16850;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.545837;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539inta&FGFR2:E650int&FGFR2:E650inta&FGFR2:E651int&FGFR2:E651inta&FGFR2:E652int&FGFR2:E652inta&FGFR2:E655int&FGFR2:E655inta&FGFR2:E678int&FGFR2:E678inta&FGFR2:E765int&FGFR2:E765inta&FGFR2:E767int&FGFR2:E767inta&FGFR2:E768int&FGFR2:E768inta;CSQ_CADD_PHRED=0.149 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,62:120:0.51667:65:-100:0.1367:9,19,3,16,4,11,20,41,9,22,6,22:100:100 +10 123240645 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3060;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.0990868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875;CSQ_COSMICncMuts=COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.250 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0.1429:1,2,1,6,0,6,22,45,12,19,6,22:100:100 +10 123240645 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1957-1110G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3060;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.0990868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875;CSQ_COSMICncMuts=COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539inta&FGFR2:E650int&FGFR2:E650inta&FGFR2:E651int&FGFR2:E651inta&FGFR2:E652int&FGFR2:E652inta&FGFR2:E655int&FGFR2:E655inta&FGFR2:E678int&FGFR2:E678inta&FGFR2:E765int&FGFR2:E765inta&FGFR2:E767int&FGFR2:E767inta&FGFR2:E768int&FGFR2:E768inta;CSQ_CADD_PHRED=1.250 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0.1429:1,2,1,6,0,6,22,45,12,19,6,22:100:100 +10 123240645 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2305-1110G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123240645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3060;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.0990868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875;CSQ_COSMICncMuts=COSV60640875&COSV60640875&COSV60640875&COSV60640875&COSV60640875;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539inta&FGFR2:E650int&FGFR2:E650inta&FGFR2:E651int&FGFR2:E651inta&FGFR2:E652int&FGFR2:E652inta&FGFR2:E655int&FGFR2:E655inta&FGFR2:E678int&FGFR2:E678inta&FGFR2:E765int&FGFR2:E765inta&FGFR2:E767int&FGFR2:E767inta&FGFR2:E768int&FGFR2:E768inta;CSQ_CADD_PHRED=1.250 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,16:126:0.12698:65:-100:0.1429:1,2,1,6,0,6,22,45,12,19,6,22:100:100 +10 123241496 . T C 100 PASS DP=4;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.*190A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=667902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30263;CSQ_gnomADg_AN=30656;CSQ_gnomADg_AF=0.98718;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ ./.:0:0,4:4:1:65:-65:0.7333:0,2,0,1,0,1,0,2,0,1,0,1:75.044:100 +10 123241496 . T C 100 PASS DP=4;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+1716A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=667902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30263;CSQ_gnomADg_AN=30656;CSQ_gnomADg_AF=0.98718;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:3UTR&FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768intd;CSQ_CADD_PHRED=0.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ ./.:0:0,4:4:1:65:-65:0.7333:0,2,0,1,0,1,0,2,0,1,0,1:75.044:100 +10 123241496 . T C 100 PASS DP=4;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+1716A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=667902;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30263;CSQ_gnomADg_AN=30656;CSQ_gnomADg_AF=0.98718;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:3UTR&FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768intd;CSQ_CADD_PHRED=0.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ ./.:0:0,4:4:1:65:-65:0.7333:0,2,0,1,0,1,0,2,0,1,0,1:75.044:100 +10 123241625 . A G 100 PASS DP=98;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.*61T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241625A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.941 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,8:98:0.08163:65:-100:0.1695:0,2,1,3,1,1,20,25,10,16,16,11:83.85:100 +10 123241625 . A G 100 PASS DP=98;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+1587T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241625A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.941 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,8:98:0.08163:65:-100:0.1695:0,2,1,3,1,1,20,25,10,16,16,11:83.85:100 +10 123241625 . A G 100 PASS DP=98;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+1587T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241625A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.941 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,8:98:0.08163:65:-100:0.1695:0,2,1,3,1,1,20,25,10,16,16,11:83.85:100 +10 123241793 . TC T 100 PASS DP=149;CSQ_Allele=-;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.2305-103del;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241800del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=117;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00377785;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.624 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,15:149:0.10067:65:-100:0:2,9,0,2,0,2,26,52,12,20,11,28:100:100 +10 123241793 . TC T 100 PASS DP=149;CSQ_Allele=-;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+1418del;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241800del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=117;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00377785;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.624 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,15:149:0.10067:65:-100:0:2,9,0,2,0,2,26,52,12,20,11,28:100:100 +10 123241793 . TC T 100 PASS DP=149;CSQ_Allele=-;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+1418del;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241800del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=117;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00377785;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.624 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,15:149:0.10067:65:-100:0:2,9,0,2,0,2,26,52,12,20,11,28:100:100 +10 123241794 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.2305-103G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241794C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1263215;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11334;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.366962;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364;CSQ_COSMICncMuts=COSV60647364&COSV60647364&COSV60647364;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679inta&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768inta&FGFR2:E768intd;CSQ_CADD_PHRED=1.018 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,51:149:0.34228:65:-100:0.1337:6,15,6,9,4,11,26,52,12,20,11,28:100:100 +10 123241794 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+1418G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241794C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1263215;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11334;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.366962;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364;CSQ_COSMICncMuts=COSV60647364&COSV60647364&COSV60647364;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679inta&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768inta&FGFR2:E768intd;CSQ_CADD_PHRED=1.018 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,51:149:0.34228:65:-100:0.1337:6,15,6,9,4,11,26,52,12,20,11,28:100:100 +10 123241794 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+1418G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241794C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1263215;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11334;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.366962;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364&COSV60647364;CSQ_COSMICncMuts=COSV60647364&COSV60647364&COSV60647364;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679inta&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768inta&FGFR2:E768intd;CSQ_CADD_PHRED=1.018 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,51:149:0.34228:65:-100:0.1337:6,15,6,9,4,11,26,52,12,20,11,28:100:100 +10 123241795 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.2305-104G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241795C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=92;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.00297523;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.247 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,15:150:0.1:65:-100:0.1329:2,9,0,2,0,2,26,52,12,20,13,27:100:100 +10 123241795 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+1417G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241795C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=92;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.00297523;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.247 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,15:150:0.1:65:-100:0.1329:2,9,0,2,0,2,26,52,12,20,13,27:100:100 +10 123241795 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+1417G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123241795C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=92;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.00297523;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.247 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,15:150:0.1:65:-100:0.1329:2,9,0,2,0,2,26,52,12,20,13,27:100:100 +10 123242026 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.2305-335A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242026T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=667901;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=22592;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.730187;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.870 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,81:122:0.66393:65:-100:0.1408:10,32,6,18,6,9,17,48,8,25,9,15:100:100 +10 123242026 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+1186A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242026T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=667901;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=22592;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.730187;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.870 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,81:122:0.66393:65:-100:0.1408:10,32,6,18,6,9,17,48,8,25,9,15:100:100 +10 123242026 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+1186A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242026T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=667901;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=22592;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.730187;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.870 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,81:122:0.66393:65:-100:0.1408:10,32,6,18,6,9,17,48,8,25,9,15:100:100 +10 123242724 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.2304+488A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242724T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22579;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.72972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.099 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,101:138:0.73188:65:-100:0.1481:15,31,8,18,6,23,21,44,12,24,9,28:100:100 +10 123242724 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+488A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242724T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22579;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.72972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.099 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,101:138:0.73188:65:-100:0.1481:15,31,8,18,6,23,21,44,12,24,9,28:100:100 +10 123242724 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+488A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242724T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22579;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.72972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.099 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,101:138:0.73188:65:-100:0.1481:15,31,8,18,6,23,21,44,12,24,9,28:100:100 +10 123242725 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.2304+487T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242725A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1377;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.0444394;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591;CSQ_COSMICncMuts=COSV60640591&COSV60640591&COSV60640591;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679intd&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768intd;CSQ_CADD_PHRED=0.818 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,17:142:0.11972:65:-100:0.1235:2,4,1,3,2,5,21,44,13,25,9,30:100:100 +10 123242725 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+487T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242725A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1377;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.0444394;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591;CSQ_COSMICncMuts=COSV60640591&COSV60640591&COSV60640591;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679intd&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768intd;CSQ_CADD_PHRED=0.818 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,17:142:0.11972:65:-100:0.1235:2,4,1,3,2,5,21,44,13,25,9,30:100:100 +10 123242725 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+487T>C;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242725A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1377;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.0444394;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591&COSV60640591;CSQ_COSMICncMuts=COSV60640591&COSV60640591&COSV60640591;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679intd&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768intd;CSQ_CADD_PHRED=0.818 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,17:142:0.11972:65:-100:0.1235:2,4,1,3,2,5,21,44,13,25,9,30:100:100 +10 123242780 . G C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.2304+432C>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242780G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24854;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.803764;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.369 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,123:138:0.8913:65:-100:0.1534:17,48,10,23,11,14,18,53,10,26,11,20:100:100 +10 123242780 . G C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+432C>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242780G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24854;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.803764;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.369 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,123:138:0.8913:65:-100:0.1534:17,48,10,23,11,14,18,53,10,26,11,20:100:100 +10 123242780 . G C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+432C>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123242780G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24854;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.803764;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.369 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,123:138:0.8913:65:-100:0.1534:17,48,10,23,11,14,18,53,10,26,11,20:100:100 +10 123243197 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.2304+15C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123243197G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255317;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis;CSQ_gnomADg_AC=13652;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.442156;CSQ_gnomADe_AC=135976;CSQ_gnomADe_AN=241956;CSQ_gnomADe_AF=0.561986;CSQ_gnomADe_Hom=40562;CSQ_COSMICcMuts=COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466;CSQ_COSMICncMuts=COSV60638466&COSV60638466&COSV60638466;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679intd&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768intd;CSQ_CADD_PHRED=5.081 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,62:143:0.43357:65:-100:0.1173:9,18,10,10,4,11,19,49,14,25,13,23:100:100 +10 123243197 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1956+15C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123243197G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255317;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis;CSQ_gnomADg_AC=13652;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.442156;CSQ_gnomADe_AC=135976;CSQ_gnomADe_AN=241956;CSQ_gnomADe_AF=0.561986;CSQ_gnomADe_Hom=40562;CSQ_COSMICcMuts=COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466;CSQ_COSMICncMuts=COSV60638466&COSV60638466&COSV60638466;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679intd&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768intd;CSQ_CADD_PHRED=5.081 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,62:143:0.43357:65:-100:0.1173:9,18,10,10,4,11,19,49,14,25,13,23:100:100 +10 123243197 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.2304+15C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123243197G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255317;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis;CSQ_gnomADg_AC=13652;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.442156;CSQ_gnomADe_AC=135976;CSQ_gnomADe_AN=241956;CSQ_gnomADe_AF=0.561986;CSQ_gnomADe_Hom=40562;CSQ_COSMICcMuts=COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466&COSV60638466;CSQ_COSMICncMuts=COSV60638466&COSV60638466&COSV60638466;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:E539int&FGFR2:E539intd&FGFR2:E650int&FGFR2:E650intd&FGFR2:E651int&FGFR2:E651intd&FGFR2:E652int&FGFR2:E652intd&FGFR2:E655int&FGFR2:E655intd&FGFR2:E678int&FGFR2:E678intd&FGFR2:E679int&FGFR2:E679intd&FGFR2:E765int&FGFR2:E765intd&FGFR2:E767int&FGFR2:E767intd&FGFR2:E768int&FGFR2:E768intd;CSQ_CADD_PHRED=5.081 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,62:143:0.43357:65:-100:0.1173:9,18,10,10,4,11,19,49,14,25,13,23:100:100 +10 123256164 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/17;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.1748C>T;CSQ_HGVSp=NP_001138385.1:p.Pro583Leu;CSQ_HGVSg=10:g.123256164G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.497;CSQ_Mastermind_MMID3=FGFR2:P354L&FGFR2:P465L&FGFR2:P466L&FGFR2:P467L&FGFR2:P470L&FGFR2:P493L&FGFR2:P494L&FGFR2:P580L&FGFR2:P582L&FGFR2:P583L;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,11:136:0.08088:65:-100:0.1758:2,1,0,4,1,3,26,39,6,37,10,18:100:100 +10 123256164 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/15;CSQ_INTRON=.;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1400C>T;CSQ_HGVSp=NP_001138388.1:p.Pro467Leu;CSQ_HGVSg=10:g.123256164G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.497;CSQ_Mastermind_MMID3=FGFR2:P354L&FGFR2:P465L&FGFR2:P466L&FGFR2:P467L&FGFR2:P470L&FGFR2:P493L&FGFR2:P494L&FGFR2:P580L&FGFR2:P582L&FGFR2:P583L;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,11:136:0.08088:65:-100:0.1758:2,1,0,4,1,3,26,39,6,37,10,18:100:100 +10 123256164 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/18;CSQ_INTRON=.;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.1748C>T;CSQ_HGVSp=NP_075259.4:p.Pro583Leu;CSQ_HGVSg=10:g.123256164G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017&COSV60639017;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.497;CSQ_Mastermind_MMID3=FGFR2:P354L&FGFR2:P465L&FGFR2:P466L&FGFR2:P467L&FGFR2:P470L&FGFR2:P493L&FGFR2:P494L&FGFR2:P580L&FGFR2:P582L&FGFR2:P583L;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,11:136:0.08088:65:-100:0.1758:2,1,0,4,1,3,26,39,6,37,10,18:100:100 +10 123262708 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.1442+596C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123262708G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26000;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.839956;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:K252int&FGFR2:K252intd&FGFR2:K363int&FGFR2:K363intd&FGFR2:K364int&FGFR2:K364intd&FGFR2:K365int&FGFR2:K365intd&FGFR2:K368int&FGFR2:K368intd&FGFR2:K391int&FGFR2:K391intd&FGFR2:K392int&FGFR2:K392intd&FGFR2:K478int&FGFR2:K478intd&FGFR2:K480int&FGFR2:K480intd&FGFR2:K481int&FGFR2:K481intd;CSQ_CADD_PHRED=1.058 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,116:135:0.85926:65:-100:0.1346:16,42,11,10,14,23,23,48,13,12,15,24:100:100 +10 123262708 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.1094+596C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123262708G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26000;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.839956;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:K252int&FGFR2:K252intd&FGFR2:K363int&FGFR2:K363intd&FGFR2:K364int&FGFR2:K364intd&FGFR2:K365int&FGFR2:K365intd&FGFR2:K368int&FGFR2:K368intd&FGFR2:K391int&FGFR2:K391intd&FGFR2:K392int&FGFR2:K392intd&FGFR2:K478int&FGFR2:K478intd&FGFR2:K480int&FGFR2:K480intd&FGFR2:K481int&FGFR2:K481intd;CSQ_CADD_PHRED=1.058 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,116:135:0.85926:65:-100:0.1346:16,42,11,10,14,23,23,48,13,12,15,24:100:100 +10 123262708 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.1442+596C>T;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123262708G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26000;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.839956;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:K252int&FGFR2:K252intd&FGFR2:K363int&FGFR2:K363intd&FGFR2:K364int&FGFR2:K364intd&FGFR2:K365int&FGFR2:K365intd&FGFR2:K368int&FGFR2:K368intd&FGFR2:K391int&FGFR2:K391intd&FGFR2:K392int&FGFR2:K392intd&FGFR2:K478int&FGFR2:K478intd&FGFR2:K480int&FGFR2:K480intd&FGFR2:K481int&FGFR2:K481intd;CSQ_CADD_PHRED=1.058 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,116:135:0.85926:65:-100:0.1346:16,42,11,10,14,23,23,48,13,12,15,24:100:100 +10 123280826 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.749-1143G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123280826C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=85;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00274459;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,8:132:0.06061:65:-100:0.1316:0,1,0,5,1,1,12,37,12,25,18,28:81.372:100 +10 123280826 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.404-1143G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123280826C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=85;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00274459;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,8:132:0.06061:65:-100:0.1316:0,1,0,5,1,1,12,37,12,25,18,28:81.372:100 +10 123280826 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.749-1143G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123280826C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=85;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00274459;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,8:132:0.06061:65:-100:0.1316:0,1,0,5,1,1,12,37,12,25,18,28:81.372:100 +10 123280915 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/16;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.749-1232A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123280915T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27783;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.897326;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.890 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,133:133:1:65:-100:0.1133:18,47,15,19,13,21,18,47,15,19,13,21:100:100 +10 123280915 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.404-1232A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123280915T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27783;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.897326;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.890 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,133:133:1:65:-100:0.1133:18,47,15,19,13,21,18,47,15,19,13,21:100:100 +10 123280915 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/17;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.749-1232A>G;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123280915T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27783;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.897326;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.890 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,133:133:1:65:-100:0.1133:18,47,15,19,13,21,18,47,15,19,13,21:100:100 +10 123298158 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/17;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.696A>G;CSQ_HGVSp=NP_001138385.1:p.Val232%3D;CSQ_HGVSg=10:g.123298158T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255319;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis;CSQ_gnomADg_AC=23586;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.763548;CSQ_gnomADe_AC=192307;CSQ_gnomADe_AN=246130;CSQ_gnomADe_AF=0.781323;CSQ_gnomADe_Hom=75579;CSQ_COSMICcMuts=COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:V117V&FGFR2:V143V&FGFR2:V232V;CSQ_CADD_PHRED=12.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,103:135:0.76296:65:-100:0.106:11,37,11,21,7,16,13,50,16,26,8,22:100:100 +10 123298158 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/15;CSQ_INTRON=.;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.351A>G;CSQ_HGVSp=NP_001138388.1:p.Val117%3D;CSQ_HGVSg=10:g.123298158T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255319;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis;CSQ_gnomADg_AC=23586;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.763548;CSQ_gnomADe_AC=192307;CSQ_gnomADe_AN=246130;CSQ_gnomADe_AF=0.781323;CSQ_gnomADe_Hom=75579;CSQ_COSMICcMuts=COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:V117V&FGFR2:V143V&FGFR2:V232V;CSQ_CADD_PHRED=12.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,103:135:0.76296:65:-100:0.106:11,37,11,21,7,16,13,50,16,26,8,22:100:100 +10 123298158 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/18;CSQ_INTRON=.;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.696A>G;CSQ_HGVSp=NP_075259.4:p.Val232%3D;CSQ_HGVSg=10:g.123298158T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255319;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis;CSQ_gnomADg_AC=23586;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.763548;CSQ_gnomADe_AC=192307;CSQ_gnomADe_AN=246130;CSQ_gnomADe_AF=0.781323;CSQ_gnomADe_Hom=75579;CSQ_COSMICcMuts=COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254&COSV100335254;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:V117V&FGFR2:V143V&FGFR2:V232V;CSQ_CADD_PHRED=12.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,103:135:0.76296:65:-100:0.106:11,37,11,21,7,16,13,50,16,26,8,22:100:100 +10 123310878 . T TC 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.549dup;CSQ_HGVSp=NP_001138385.1:p.Asn184GlufsTer16;CSQ_HGVSg=10:g.123310884dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:N69fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-97.8929:0:1,2,0,3,1,0,19,50,11,26,9,20:71.73:100 +10 123310878 . T TC 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/15;CSQ_INTRON=.;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.204dup;CSQ_HGVSp=NP_001138388.1:p.Asn69GlufsTer16;CSQ_HGVSg=10:g.123310884dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:N69fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-97.8929:0:1,2,0,3,1,0,19,50,11,26,9,20:71.73:100 +10 123310878 . T TC 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=FGFR2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=5/18;CSQ_INTRON=.;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.549dup;CSQ_HGVSp=NP_075259.4:p.Asn184GlufsTer16;CSQ_HGVSg=10:g.123310884dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:N69fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-97.8929:0:1,2,0,3,1,0,19,50,11,26,9,20:71.73:100 +10 123325169 . C T 100 PASS DP=169;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/17;CSQ_INTRON=.;CSQ_Feature=NM_001144913.1;CSQ_HGVSc=NM_001144913.1:c.159G>A;CSQ_HGVSp=NP_001138385.1:p.Ala53%3D;CSQ_HGVSg=10:g.123325169C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=196218;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis¬_provided;CSQ_gnomADg_AC=145;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00468044;CSQ_gnomADe_AC=827;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=0.00335854;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:A53A&FGFR2:D37int&FGFR2:D37inta&FGFR2:G37int&FGFR2:G37inta;CSQ_CADD_PHRED=9.456 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,26:169:0.15385:65:-100:0.1058:5,13,0,4,1,3,27,73,11,25,10,23:100:100 +10 123325169 . C T 100 PASS DP=169;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_001144916.2;CSQ_HGVSc=NM_001144916.2:c.110-14196G>A;CSQ_HGVSp=.;CSQ_HGVSg=10:g.123325169C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=196218;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis¬_provided;CSQ_gnomADg_AC=145;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00468044;CSQ_gnomADe_AC=827;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=0.00335854;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:A53A&FGFR2:D37int&FGFR2:D37inta&FGFR2:G37int&FGFR2:G37inta;CSQ_CADD_PHRED=9.456 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,26:169:0.15385:65:-100:0.1058:5,13,0,4,1,3,27,73,11,25,10,23:100:100 +10 123325169 . C T 100 PASS DP=169;CSQ_Allele=T;CSQ_SYMBOL=FGFR2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/18;CSQ_INTRON=.;CSQ_Feature=NM_022970.3;CSQ_HGVSc=NM_022970.3:c.159G>A;CSQ_HGVSp=NP_075259.4:p.Ala53%3D;CSQ_HGVSg=10:g.123325169C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=196218;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Craniosynostosis_syndrome&Crouzon_syndrome&Saethre-Chotzen_syndrome&Beare-Stevenson_cutis_gyrata_syndrome&Isolated_coronal_synostosis¬_specified&FGFR2-related_craniosynostosis¬_provided;CSQ_gnomADg_AC=145;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00468044;CSQ_gnomADe_AC=827;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=0.00335854;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417&COSV60649417;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGFR2:A53A&FGFR2:D37int&FGFR2:D37inta&FGFR2:G37int&FGFR2:G37inta;CSQ_CADD_PHRED=9.456 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,26:169:0.15385:65:-100:0.1058:5,13,0,4,1,3,27,73,11,25,10,23:100:100 +11 533328 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=HRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_001130442.3;CSQ_HGVSc=NM_001130442.3:c.450+125G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.533328C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1319799;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Malignant_tumor_of_urinary_bladder;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=3.23332e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=234374;CSQ_gnomADe_AF=9.38671e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54248350&COSV54248350&COSV54248350&COSV54248350&COSV54248350;CSQ_COSMICncMuts=COSV54248350&COSV54248350&COSV54248350&COSV54248350;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,8:111:0.07207:65:-100:0.2014:3,2,0,1,2,0,29,34,10,13,11,14:98.96:100 +11 533328 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=HRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/5;CSQ_Feature=NM_005343.4;CSQ_HGVSc=NM_005343.4:c.450+125G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.533328C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1319799;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Malignant_tumor_of_urinary_bladder;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=3.23332e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=234374;CSQ_gnomADe_AF=9.38671e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54248350&COSV54248350&COSV54248350&COSV54248350&COSV54248350;CSQ_COSMICncMuts=COSV54248350&COSV54248350&COSV54248350&COSV54248350;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,8:111:0.07207:65:-100:0.2014:3,2,0,1,2,0,29,34,10,13,11,14:98.96:100 +11 533328 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=HRAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/6;CSQ_INTRON=.;CSQ_Feature=NM_176795.5;CSQ_HGVSc=NM_176795.5:c.481G>A;CSQ_HGVSp=NP_789765.1:p.Gly161Arg;CSQ_HGVSg=11:g.533328C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1319799;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Malignant_tumor_of_urinary_bladder;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=3.23332e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=234374;CSQ_gnomADe_AF=9.38671e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54248350&COSV54248350&COSV54248350&COSV54248350&COSV54248350;CSQ_COSMICncMuts=COSV54248350&COSV54248350&COSV54248350&COSV54248350;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.109;CSQ_Mastermind_MMID3=HRAS:G161R;CSQ_CADD_PHRED=21.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,8:111:0.07207:65:-100:0.2014:3,2,0,1,2,0,29,34,10,13,11,14:98.96:100 +11 534242 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=HRAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_001130442.3;CSQ_HGVSc=NM_001130442.3:c.81T>C;CSQ_HGVSp=NP_001123914.1:p.His27%3D;CSQ_HGVSg=11:g.534242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=40431;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Costello_syndrome&Noonan_syndrome_and_Noonan-related_syndrome&RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=10570;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.343249;CSQ_gnomADe_AC=77556;CSQ_gnomADe_AN=245666;CSQ_gnomADe_AF=0.315697;CSQ_gnomADe_Hom=12736;CSQ_COSMICcMuts=COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196;CSQ_COSMICncMuts=COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HRAS:5UTR&HRAS:H27H;CSQ_CADD_PHRED=11.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,37:156:0.23718:65:-100:0.1475:6,8,3,6,7,7,24,47,12,23,20,30:100:100 +11 534242 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=HRAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_005343.4;CSQ_HGVSc=NM_005343.4:c.81T>C;CSQ_HGVSp=NP_005334.1:p.His27%3D;CSQ_HGVSg=11:g.534242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=40431;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Costello_syndrome&Noonan_syndrome_and_Noonan-related_syndrome&RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=10570;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.343249;CSQ_gnomADe_AC=77556;CSQ_gnomADe_AN=245666;CSQ_gnomADe_AF=0.315697;CSQ_gnomADe_Hom=12736;CSQ_COSMICcMuts=COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196;CSQ_COSMICncMuts=COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HRAS:5UTR&HRAS:H27H;CSQ_CADD_PHRED=11.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,37:156:0.23718:65:-100:0.1475:6,8,3,6,7,7,24,47,12,23,20,30:100:100 +11 534242 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=HRAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_176795.5;CSQ_HGVSc=NM_176795.5:c.81T>C;CSQ_HGVSp=NP_789765.1:p.His27%3D;CSQ_HGVSg=11:g.534242A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=40431;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Squamous_cell_lung_carcinoma&Costello_syndrome&Noonan_syndrome_and_Noonan-related_syndrome&RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=10570;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.343249;CSQ_gnomADe_AC=77556;CSQ_gnomADe_AN=245666;CSQ_gnomADe_AF=0.315697;CSQ_gnomADe_Hom=12736;CSQ_COSMICcMuts=COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196;CSQ_COSMICncMuts=COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196&COSV54237196;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HRAS:5UTR&HRAS:H27H;CSQ_CADD_PHRED=11.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,37:156:0.23718:65:-100:0.1475:6,8,3,6,7,7,24,47,12,23,20,30:100:100 +11 2156726 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=IGF2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_000612.6;CSQ_HGVSc=NM_000612.6:c.28C>T;CSQ_HGVSp=NP_000603.1:p.Leu10%3D;CSQ_HGVSg=11:g.2156726G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,7:142:0.0493:65:-95.7439:0.1235:1,3,1,0,1,1,15,62,6,14,17,28:96.47:100 +11 2156726 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=IGF2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/5;CSQ_INTRON=.;CSQ_Feature=NM_001127598.3;CSQ_HGVSc=NM_001127598.3:c.196C>T;CSQ_HGVSp=NP_001121070.1:p.Leu66%3D;CSQ_HGVSg=11:g.2156726G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,7:142:0.0493:65:-95.7439:0.1235:1,3,1,0,1,1,15,62,6,14,17,28:96.47:100 +11 8246181 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=LMO1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001270428.2;CSQ_HGVSc=NM_001270428.2:c.450T>C;CSQ_HGVSp=NP_001257357.1:p.Phe150%3D;CSQ_HGVSg=11:g.8246181A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6167;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.200006;CSQ_gnomADe_AC=33651;CSQ_gnomADe_AN=236192;CSQ_gnomADe_AF=0.142473;CSQ_gnomADe_Hom=2934;CSQ_COSMICcMuts=COSV59956747&COSV59956747&COSV59956747;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LMO1:F150F&LMO1:F151F;CSQ_CADD_PHRED=11.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,10:121:0.08264:65:-100:0.1479:1,3,0,2,1,3,23,44,6,15,11,22:100:100 +11 8246181 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=LMO1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_002315.3;CSQ_HGVSc=NM_002315.3:c.453T>C;CSQ_HGVSp=NP_002306.1:p.Phe151%3D;CSQ_HGVSg=11:g.8246181A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6167;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.200006;CSQ_gnomADe_AC=33651;CSQ_gnomADe_AN=236192;CSQ_gnomADe_AF=0.142473;CSQ_gnomADe_Hom=2934;CSQ_COSMICcMuts=COSV59956747&COSV59956747&COSV59956747;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LMO1:F150F&LMO1:F151F;CSQ_CADD_PHRED=11.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,10:121:0.08264:65:-100:0.1479:1,3,0,2,1,3,23,44,6,15,11,22:100:100 +11 8251921 . G C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=LMO1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_001270428.2;CSQ_HGVSc=NM_001270428.2:c.153C>G;CSQ_HGVSp=NP_001257357.1:p.Ala51%3D;CSQ_HGVSg=11:g.8251921G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11441;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.370427;CSQ_gnomADe_AC=112307;CSQ_gnomADe_AN=246084;CSQ_gnomADe_AF=0.456377;CSQ_gnomADe_Hom=27324;CSQ_COSMICcMuts=COSV59957325&COSV59957325&COSV59957325;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LMO1:A51A&LMO1:A52A;CSQ_CADD_PHRED=13.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,73:136:0.53676:65:-100:0.1282:9,22,4,15,10,13,16,49,5,25,16,25:100:100 +11 8251921 . G C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=LMO1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_002315.3;CSQ_HGVSc=NM_002315.3:c.156C>G;CSQ_HGVSp=NP_002306.1:p.Ala52%3D;CSQ_HGVSg=11:g.8251921G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11441;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.370427;CSQ_gnomADe_AC=112307;CSQ_gnomADe_AN=246084;CSQ_gnomADe_AF=0.456377;CSQ_gnomADe_Hom=27324;CSQ_COSMICcMuts=COSV59957325&COSV59957325&COSV59957325;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LMO1:A51A&LMO1:A52A;CSQ_CADD_PHRED=13.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,73:136:0.53676:65:-100:0.1282:9,22,4,15,10,13,16,49,5,25,16,25:100:100 +11 22646398 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=FANCF;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_022725.4;CSQ_HGVSc=NM_022725.4:c.959C>T;CSQ_HGVSp=NP_073562.1:p.Pro320Leu;CSQ_HGVSg=11:g.22646398G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134351;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_F&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=336;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0108555;CSQ_gnomADe_AC=3092;CSQ_gnomADe_AN=246270;CSQ_gnomADe_AF=0.0125553;CSQ_gnomADe_Hom=35;CSQ_COSMICcMuts=COSV59416879;CSQ_COSMICncMuts=COSV59416879&COSV59416879;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=0.096;CSQ_Mastermind_MMID3=FANCF:P320L;CSQ_CADD_PHRED=20.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,9:143:0.06294:65:-100:0.1173:0,1,2,2,2,2,22,49,13,30,13,16:100:100 +11 22646532 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=FANCF;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_022725.4;CSQ_HGVSc=NM_022725.4:c.825G>A;CSQ_HGVSp=NP_073562.1:p.Leu275%3D;CSQ_HGVSg=11:g.22646532C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=241444;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_F&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=750;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0242232;CSQ_gnomADe_AC=4542;CSQ_gnomADe_AN=246236;CSQ_gnomADe_AF=0.0184457;CSQ_gnomADe_Hom=65;CSQ_COSMICcMuts=COSV104646790;CSQ_COSMICncMuts=COSV104646790&COSV104646790;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCF:L275L;CSQ_CADD_PHRED=9.956 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,7:129:0.05426:65:-97.3038:0.1284:1,2,0,1,0,3,16,58,6,21,7,21:80.183:100 +11 32417945 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=WT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/9;CSQ_INTRON=.;CSQ_Feature=NM_000378.6;CSQ_HGVSc=NM_000378.6:c.1071A>G;CSQ_HGVSp=NP_000369.4:p.Arg357%3D;CSQ_HGVSg=11:g.32417945T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=198591;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Frasier_syndrome&Wilms_tumor_1&11p_partial_monosomy_syndrome&Drash_syndrome&Nephrotic_syndrome&_type_4&Meacham_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5437;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.175727;CSQ_gnomADe_AC=59678;CSQ_gnomADe_AN=245920;CSQ_gnomADe_AF=0.242672;CSQ_gnomADe_Hom=10439;CSQ_COSMICcMuts=COSV60066333&COSV60066333&COSV60066333&COSV60066333;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=WT1:5UTR&WT1:R140R&WT1:R157R&WT1:R352R&WT1:R357R&WT1:R369R&WT1:R374R;CSQ_CADD_PHRED=10.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,41:136:0.30147:65:-100:0.1656:6,18,4,6,1,6,27,44,11,21,14,19:100:100 +11 32417945 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=WT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_001198551.1;CSQ_HGVSc=NM_001198551.1:c.471A>G;CSQ_HGVSp=NP_001185480.1:p.Arg157%3D;CSQ_HGVSg=11:g.32417945T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=198591;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Frasier_syndrome&Wilms_tumor_1&11p_partial_monosomy_syndrome&Drash_syndrome&Nephrotic_syndrome&_type_4&Meacham_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5437;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.175727;CSQ_gnomADe_AC=59678;CSQ_gnomADe_AN=245920;CSQ_gnomADe_AF=0.242672;CSQ_gnomADe_Hom=10439;CSQ_COSMICcMuts=COSV60066333&COSV60066333&COSV60066333&COSV60066333;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=WT1:5UTR&WT1:R140R&WT1:R157R&WT1:R352R&WT1:R357R&WT1:R369R&WT1:R374R;CSQ_CADD_PHRED=10.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,41:136:0.30147:65:-100:0.1656:6,18,4,6,1,6,27,44,11,21,14,19:100:100 +11 32417945 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=WT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_024426.6;CSQ_HGVSc=NM_024426.6:c.1122A>G;CSQ_HGVSp=NP_077744.4:p.Arg374%3D;CSQ_HGVSg=11:g.32417945T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=198591;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Frasier_syndrome&Wilms_tumor_1&11p_partial_monosomy_syndrome&Drash_syndrome&Nephrotic_syndrome&_type_4&Meacham_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5437;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.175727;CSQ_gnomADe_AC=59678;CSQ_gnomADe_AN=245920;CSQ_gnomADe_AF=0.242672;CSQ_gnomADe_Hom=10439;CSQ_COSMICcMuts=COSV60066333&COSV60066333&COSV60066333&COSV60066333;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=WT1:5UTR&WT1:R140R&WT1:R157R&WT1:R352R&WT1:R357R&WT1:R369R&WT1:R374R;CSQ_CADD_PHRED=10.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,41:136:0.30147:65:-100:0.1656:6,18,4,6,1,6,27,44,11,21,14,19:100:100 +11 32456562 . G A 100 PASS DP=11;CSQ_Allele=A;CSQ_SYMBOL=WT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_000378.6;CSQ_HGVSc=NM_000378.6:c.345C>T;CSQ_HGVSp=NP_000369.4:p.Pro115%3D;CSQ_HGVSg=11:g.32456562G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=193454;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Frasier_syndrome&Wilms_tumor_1&11p_partial_monosomy_syndrome&Drash_syndrome&Nephrotic_syndrome&_type_4&Meacham_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5041;CSQ_gnomADg_AN=30612;CSQ_gnomADg_AF=0.164674;CSQ_gnomADe_AC=22175;CSQ_gnomADe_AN=80660;CSQ_gnomADe_AF=0.274919;CSQ_gnomADe_Hom=4312;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=WT1:P110P&WT1:P115P;CSQ_CADD_PHRED=9.882 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,4:11:0.36364:65:-100:0:1,0,2,0,1,0,3,0,4,0,4,0:61.443:100 +11 32456562 . G A 100 PASS DP=11;CSQ_Allele=A;CSQ_SYMBOL=WT1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001198551.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.32456562G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=193454;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Frasier_syndrome&Wilms_tumor_1&11p_partial_monosomy_syndrome&Drash_syndrome&Nephrotic_syndrome&_type_4&Meacham_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5041;CSQ_gnomADg_AN=30612;CSQ_gnomADg_AF=0.164674;CSQ_gnomADe_AC=22175;CSQ_gnomADe_AN=80660;CSQ_gnomADe_AF=0.274919;CSQ_gnomADe_Hom=4312;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.882 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,4:11:0.36364:65:-100:0:1,0,2,0,1,0,3,0,4,0,4,0:61.443:100 +11 32456562 . G A 100 PASS DP=11;CSQ_Allele=A;CSQ_SYMBOL=WT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/10;CSQ_INTRON=.;CSQ_Feature=NM_024426.6;CSQ_HGVSc=NM_024426.6:c.345C>T;CSQ_HGVSp=NP_077744.4:p.Pro115%3D;CSQ_HGVSg=11:g.32456562G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=193454;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Frasier_syndrome&Wilms_tumor_1&11p_partial_monosomy_syndrome&Drash_syndrome&Nephrotic_syndrome&_type_4&Meacham_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5041;CSQ_gnomADg_AN=30612;CSQ_gnomADg_AF=0.164674;CSQ_gnomADe_AC=22175;CSQ_gnomADe_AN=80660;CSQ_gnomADe_AF=0.274919;CSQ_gnomADe_Hom=4312;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=WT1:P110P&WT1:P115P;CSQ_CADD_PHRED=9.882 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,4:11:0.36364:65:-100:0:1,0,2,0,1,0,3,0,4,0,4,0:61.443:100 +11 64127744 . A G 100 PASS DP=109;CSQ_Allele=G;CSQ_SYMBOL=RPS6KA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/17;CSQ_INTRON=.;CSQ_Feature=NM_001006944.2;CSQ_HGVSc=NM_001006944.2:c.237A>G;CSQ_HGVSp=NP_001006945.1:p.Gln79%3D;CSQ_HGVSg=11:g.64127744A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1227675;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10647;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.345189;CSQ_gnomADe_AC=56078;CSQ_gnomADe_AN=143578;CSQ_gnomADe_AF=0.390575;CSQ_gnomADe_Hom=11758;CSQ_COSMICcMuts=COSV53701593&COSV53701593&COSV53701593;CSQ_COSMICncMuts=COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KA4:Q16Q&RPS6KA4:Q79Q;CSQ_CADD_PHRED=8.901 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,26:109:0.23853:65:-100:0.2101:5,4,5,4,5,3,15,36,13,15,13,17:100:100 +11 64127744 . A G 100 PASS DP=109;CSQ_Allele=G;CSQ_SYMBOL=RPS6KA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/17;CSQ_INTRON=.;CSQ_Feature=NM_003942.3;CSQ_HGVSc=NM_003942.3:c.237A>G;CSQ_HGVSp=NP_003933.1:p.Gln79%3D;CSQ_HGVSg=11:g.64127744A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1227675;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10647;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.345189;CSQ_gnomADe_AC=56078;CSQ_gnomADe_AN=143578;CSQ_gnomADe_AF=0.390575;CSQ_gnomADe_Hom=11758;CSQ_COSMICcMuts=COSV53701593&COSV53701593&COSV53701593;CSQ_COSMICncMuts=COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593&COSV53701593;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KA4:Q16Q&RPS6KA4:Q79Q;CSQ_CADD_PHRED=8.901 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,26:109:0.23853:65:-100:0.2101:5,4,5,4,5,3,15,36,13,15,13,17:100:100 +11 64137792 . G A 100 PASS DP=180;CSQ_Allele=A;CSQ_SYMBOL=RPS6KA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/17;CSQ_INTRON=.;CSQ_Feature=NM_001006944.2;CSQ_HGVSc=NM_001006944.2:c.1875G>A;CSQ_HGVSp=NP_001006945.1:p.Gly625%3D;CSQ_HGVSg=11:g.64137792G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53700957&COSV53700957&COSV53700957;CSQ_COSMICncMuts=COSV53700957&COSV53700957;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,18:180:0.1:65:-100:0.1667:0,8,1,4,1,4,16,78,15,24,13,34:100:100 +11 64137792 . G A 100 PASS DP=180;CSQ_Allele=A;CSQ_SYMBOL=RPS6KA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/17;CSQ_INTRON=.;CSQ_Feature=NM_003942.3;CSQ_HGVSc=NM_003942.3:c.1893G>A;CSQ_HGVSp=NP_003933.1:p.Gly631%3D;CSQ_HGVSg=11:g.64137792G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53700957&COSV53700957&COSV53700957;CSQ_COSMICncMuts=COSV53700957&COSV53700957;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,18:180:0.1:65:-100:0.1667:0,8,1,4,1,4,16,78,15,24,13,34:100:100 +11 64138805 . T C 100 PASS DP=92;CSQ_Allele=C;CSQ_SYMBOL=RPS6KA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001006944.2;CSQ_HGVSc=NM_001006944.2:c.2154T>C;CSQ_HGVSp=NP_001006945.1:p.Asn718%3D;CSQ_HGVSg=11:g.64138805T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9195;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.298597;CSQ_gnomADe_AC=84199;CSQ_gnomADe_AN=240454;CSQ_gnomADe_AF=0.350167;CSQ_gnomADe_Hom=15792;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KA4:N661N&RPS6KA4:N717N&RPS6KA4:N718N&RPS6KA4:N724N;CSQ_CADD_PHRED=10.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,29:92:0.31522:65:-100:0.2203:4,8,5,4,5,3,16,18,15,12,16,15:100:100 +11 64138805 . T C 100 PASS DP=92;CSQ_Allele=C;CSQ_SYMBOL=RPS6KA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_003942.3;CSQ_HGVSc=NM_003942.3:c.2172T>C;CSQ_HGVSp=NP_003933.1:p.Asn724%3D;CSQ_HGVSg=11:g.64138805T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9195;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.298597;CSQ_gnomADe_AC=84199;CSQ_gnomADe_AN=240454;CSQ_gnomADe_AF=0.350167;CSQ_gnomADe_Hom=15792;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KA4:N661N&RPS6KA4:N717N&RPS6KA4:N718N&RPS6KA4:N724N;CSQ_CADD_PHRED=10.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,29:92:0.31522:65:-100:0.2203:4,8,5,4,5,3,16,18,15,12,16,15:100:100 +11 64572018 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=MEN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_000244.3;CSQ_HGVSc=NM_000244.3:c.1636A>G;CSQ_HGVSp=NP_000235.2:p.Ala546%3D;CSQ_HGVSg=11:g.64572018T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134640;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_endocrine_neoplasia&_type_1¬_specified¬_provided;CSQ_gnomADg_AC=27577;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.893443;CSQ_gnomADe_AC=230904;CSQ_gnomADe_AN=245892;CSQ_gnomADe_AF=0.939046;CSQ_gnomADe_Hom=109716;CSQ_COSMICcMuts=COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974;CSQ_COSMICncMuts=COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,98:141:0.69504:65:-100:0.1506:9,38,11,18,10,12,19,55,16,24,11,16:100:100 +11 64572018 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=MEN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_130804.2;CSQ_HGVSc=NM_130804.2:c.1636A>G;CSQ_HGVSp=NP_570716.1:p.Ala546%3D;CSQ_HGVSg=11:g.64572018T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134640;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_endocrine_neoplasia&_type_1¬_specified¬_provided;CSQ_gnomADg_AC=27577;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.893443;CSQ_gnomADe_AC=230904;CSQ_gnomADe_AN=245892;CSQ_gnomADe_AF=0.939046;CSQ_gnomADe_Hom=109716;CSQ_COSMICcMuts=COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974;CSQ_COSMICncMuts=COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974&COSV53639974;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,98:141:0.69504:65:-100:0.1506:9,38,11,18,10,12,19,55,16,24,11,16:100:100 +11 64572557 . A G 100 PASS DP=173;CSQ_Allele=G;CSQ_SYMBOL=MEN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_000244.3;CSQ_HGVSc=NM_000244.3:c.1314T>C;CSQ_HGVSp=NP_000235.2:p.His438%3D;CSQ_HGVSg=11:g.64572557A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=167288;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_endocrine_neoplasia&_type_1¬_specified;CSQ_gnomADg_AC=30226;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.976797;CSQ_gnomADe_AC=244692;CSQ_gnomADe_AN=246082;CSQ_gnomADe_AF=0.994351;CSQ_gnomADe_Hom=121701;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,173:173:1:65:-100:0.135:26,57,17,32,17,24,26,57,17,32,17,24:100:100 +11 64572557 . A G 100 PASS DP=173;CSQ_Allele=G;CSQ_SYMBOL=MEN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_130804.2;CSQ_HGVSc=NM_130804.2:c.1314T>C;CSQ_HGVSp=NP_570716.1:p.His438%3D;CSQ_HGVSg=11:g.64572557A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=167288;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_endocrine_neoplasia&_type_1¬_specified;CSQ_gnomADg_AC=30226;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.976797;CSQ_gnomADe_AC=244692;CSQ_gnomADe_AN=246082;CSQ_gnomADe_AF=0.994351;CSQ_gnomADe_Hom=121701;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,173:173:1:65:-100:0.135:26,57,17,32,17,24,26,57,17,32,17,24:100:100 +11 64572602 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=MEN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_000244.3;CSQ_HGVSc=NM_000244.3:c.1269C>T;CSQ_HGVSp=NP_000235.2:p.Asp423%3D;CSQ_HGVSg=11:g.64572602G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=96249;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hyperparathyroidism&Multiple_endocrine_neoplasia&_type_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10073;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.326219;CSQ_gnomADe_AC=96630;CSQ_gnomADe_AN=245898;CSQ_gnomADe_AF=0.392968;CSQ_gnomADe_Hom=20211;CSQ_COSMICcMuts=COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840;CSQ_COSMICncMuts=COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MEN1:D383D&MEN1:D418D&MEN1:D423D&MEN1:D460D;CSQ_CADD_PHRED=10.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,19:156:0.12179:65:-100:0.1746:4,7,0,2,1,5,21,59,11,25,11,29:100:100 +11 64572602 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=MEN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_130804.2;CSQ_HGVSc=NM_130804.2:c.1269C>T;CSQ_HGVSp=NP_570716.1:p.Asp423%3D;CSQ_HGVSg=11:g.64572602G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=96249;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hyperparathyroidism&Multiple_endocrine_neoplasia&_type_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=10073;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.326219;CSQ_gnomADe_AC=96630;CSQ_gnomADe_AN=245898;CSQ_gnomADe_AF=0.392968;CSQ_gnomADe_Hom=20211;CSQ_COSMICcMuts=COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840;CSQ_COSMICncMuts=COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840&COSV53640840;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MEN1:D383D&MEN1:D418D&MEN1:D423D&MEN1:D460D;CSQ_CADD_PHRED=10.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,19:156:0.12179:65:-100:0.1746:4,7,0,2,1,5,21,59,11,25,11,29:100:100 +11 64575505 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=MEN1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_000244.3;CSQ_HGVSc=NM_000244.3:c.527G>A;CSQ_HGVSp=NP_000235.2:p.Arg176Gln;CSQ_HGVSg=11:g.64575505C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41854;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(13)&Likely_benign(3);CSQ_ClinVar_CLNDN=Hyperparathyroidism&Multiple_endocrine_neoplasia&_type_1&Hereditary_cancer-predisposing_syndrome&Multiple_endocrine_neoplasia¬_specified¬_provided;CSQ_gnomADg_AC=427;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0137991;CSQ_gnomADe_AC=2954;CSQ_gnomADe_AN=245840;CSQ_gnomADe_AF=0.0120159;CSQ_gnomADe_Hom=25;CSQ_COSMICcMuts=COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053;CSQ_COSMICncMuts=COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.434;CSQ_Mastermind_MMID3=MEN1:R171Q&MEN1:R176Q;CSQ_CADD_PHRED=23.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,6:147:0.04082:65:-95.2806:0.1198:0,2,0,2,1,1,22,51,11,25,12,26:60.611:100 +11 64575505 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=MEN1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_130804.2;CSQ_HGVSc=NM_130804.2:c.527G>A;CSQ_HGVSp=NP_570716.1:p.Arg176Gln;CSQ_HGVSg=11:g.64575505C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41854;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(13)&Likely_benign(3);CSQ_ClinVar_CLNDN=Hyperparathyroidism&Multiple_endocrine_neoplasia&_type_1&Hereditary_cancer-predisposing_syndrome&Multiple_endocrine_neoplasia¬_specified¬_provided;CSQ_gnomADg_AC=427;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0137991;CSQ_gnomADe_AC=2954;CSQ_gnomADe_AN=245840;CSQ_gnomADe_AF=0.0120159;CSQ_gnomADe_Hom=25;CSQ_COSMICcMuts=COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053;CSQ_COSMICncMuts=COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053&COSV53640053;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.434;CSQ_Mastermind_MMID3=MEN1:R171Q&MEN1:R176Q;CSQ_CADD_PHRED=23.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,6:147:0.04082:65:-95.2806:0.1198:0,2,0,2,1,1,22,51,11,25,12,26:60.611:100 +11 67200819 . C T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=RPS6KB2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/15;CSQ_INTRON=.;CSQ_Feature=NM_003952.3;CSQ_HGVSc=NM_003952.3:c.807C>T;CSQ_HGVSp=NP_003943.2:p.Phe269%3D;CSQ_HGVSg=11:g.67200819C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11491;CSQ_gnomADg_AN=30810;CSQ_gnomADg_AF=0.372963;CSQ_gnomADe_AC=96990;CSQ_gnomADe_AN=246050;CSQ_gnomADe_AF=0.394188;CSQ_gnomADe_Hom=20426;CSQ_COSMICcMuts=COSV57047270;CSQ_COSMICncMuts=COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270&COSV57047270;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB2:F269F;CSQ_CADD_PHRED=8.896 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,113:170:0.66471:65:-100:0.1099:16,38,7,16,14,22,22,60,11,31,18,28:100:100 +11 67202156 . C T 100 PASS DP=165;CSQ_Allele=T;CSQ_SYMBOL=RPS6KB2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/15;CSQ_INTRON=.;CSQ_Feature=NM_003952.3;CSQ_HGVSc=NM_003952.3:c.1259C>T;CSQ_HGVSp=NP_003943.2:p.Ala420Val;CSQ_HGVSg=11:g.67202156C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15377;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.498121;CSQ_gnomADe_AC=94614;CSQ_gnomADe_AN=226968;CSQ_gnomADe_AF=0.416861;CSQ_gnomADe_Hom=21468;CSQ_COSMICcMuts=COSV57048502;CSQ_COSMICncMuts=COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502&COSV57048502;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.158;CSQ_Mastermind_MMID3=RPS6KB2:A420V;CSQ_CADD_PHRED=23.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,105:165:0.63636:65:-100:0.1406:23,38,8,14,6,16,35,58,9,23,10,30:100:100 +11 69458920 . T G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=CCND1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_053056.3;CSQ_HGVSc=NM_053056.3:c.574+161T>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69458920T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.000614449;CSQ_gnomADe_AC=104;CSQ_gnomADe_AN=97558;CSQ_gnomADe_AF=0.00106603;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.900 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.1943:1,9,0,1,0,3,21,60,10,24,7,19:100:100 +11 69458974 . C A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=CCND1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_053056.3;CSQ_HGVSc=NM_053056.3:c.574+215C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69458974C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.000387772;CSQ_gnomADe_AC=50;CSQ_gnomADe_AN=59860;CSQ_gnomADe_AF=0.000835282;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.038 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,10:154:0.06494:65:-100:0.1444:0,1,2,4,1,2,25,52,16,26,14,21:100:100 +11 69462856 . C T 100 PASS DP=167;CSQ_Allele=T;CSQ_SYMBOL=CCND1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/5;CSQ_INTRON=.;CSQ_Feature=NM_053056.3;CSQ_HGVSc=NM_053056.3:c.669C>T;CSQ_HGVSp=NP_444284.1:p.Phe223%3D;CSQ_HGVSg=11:g.69462856C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1250573;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1706;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0551247;CSQ_gnomADe_AC=9649;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=0.0391911;CSQ_gnomADe_Hom=367;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CCND1:F223F;CSQ_CADD_PHRED=13.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,18:167:0.10778:65:-100:0.1164:4,8,2,2,2,0,28,63,19,25,7,25:100:100 +11 69462910 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=CCND1;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/5;CSQ_INTRON=.;CSQ_Feature=NM_053056.3;CSQ_HGVSc=NM_053056.3:c.723G>A;CSQ_HGVSp=NP_444284.1:p.Pro241%3D;CSQ_HGVSg=11:g.69462910G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=13755;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=VON_HIPPEL-LINDAU_SYNDROME&_MODIFIER_OF&Colorectal_cancer&_susceptibility_to&Multiple_myeloma&_translocation_11&14_type¬_provided;CSQ_gnomADg_AC=12241;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.396611;CSQ_gnomADe_AC=111484;CSQ_gnomADe_AN=245654;CSQ_gnomADe_AF=0.453825;CSQ_gnomADe_Hom=26130;CSQ_COSMICcMuts=COSV57118864&COSV57118864;CSQ_COSMICncMuts=COSV57118864&COSV57118864&COSV57118864;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CCND1:P241P&CCND1:P241srd;CSQ_CADD_PHRED=18.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,39:149:0.26175:65:-100:0.1078:6,16,5,7,1,4,29,49,13,29,8,21:100:100 +11 69463478 . AG A 100 PASS DP=142;CSQ_Allele=-;CSQ_SYMBOL=CCND1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_053056.3;CSQ_HGVSc=NM_053056.3:c.723+571del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69463481del;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14337;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.464612;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,39:142:0.27465:65:-100:0:5,12,2,10,3,7,23,44,13,27,12,23:100:100 +11 69463657 . C T 100 PASS DP=171;CSQ_Allele=T;CSQ_SYMBOL=CCND1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_053056.3;CSQ_HGVSc=NM_053056.3:c.723+747C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69463657C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.000388149;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.441 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,10:171:0.05848:65:-100:0.1231:3,3,1,2,1,0,29,66,14,28,10,24:100:100 +11 69463679 . A G 100 PASS DP=180;CSQ_Allele=G;CSQ_SYMBOL=CCND1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_053056.3;CSQ_HGVSc=NM_053056.3:c.723+769A>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69463679A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1499;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.0485333;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CCND1:P241int&CCND1:P241intd;CSQ_CADD_PHRED=0.532 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:164,16:180:0.08889:65:-100:0.1133:1,7,1,2,1,4,38,55,14,33,10,30:100:100 +11 69466737 . C G 100 PASS DP=164;CSQ_Allele=G;CSQ_SYMBOL=CCND1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_053056.3;CSQ_HGVSc=NM_053056.3:c.*687C>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69466737C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17112;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.554253;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CCND1:3UTR;CSQ_CADD_PHRED=3.478 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,64:164:0.39024:65:-100:0.1368:5,28,4,8,4,15,19,70,11,21,12,31:100:100 +11 69470974 . G T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=CCND1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_053056.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69470974G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.481 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,6:137:0.0438:65:-97.4473:0.1893:0,1,3,1,1,0,23,49,15,23,9,18:70.896:100 +11 69511630 . C T 100 PASS DP=93;CSQ_Allele=T;CSQ_SYMBOL=FGF19;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005117.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69511630C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1074;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0346966;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.879 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,10:93:0.10753:65:-100:0.1696:1,2,1,3,0,3,15,28,6,15,13,16:100:100 +11 69513338 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=FGF19;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_005117.3;CSQ_HGVSc=NM_005117.3:c.*692T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69513338A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10831;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.35104;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF19:3UTR;CSQ_CADD_PHRED=1.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,23:140:0.16429:65:-100:0.1411:0,9,3,5,3,3,30,39,16,22,12,21:100:100 +11 69513509 . G A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=FGF19;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_005117.3;CSQ_HGVSc=NM_005117.3:c.*521C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69513509G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=526;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0169831;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF19:3UTR;CSQ_CADD_PHRED=1.234 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,6:138:0.04348:65:-100:0.1097:4,0,2,0,0,0,27,49,13,21,15,13:61.998:100 +11 69515696 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=FGF19;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005117.3;CSQ_HGVSc=NM_005117.3:c.337-1352C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69515696G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4729;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.152795;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.055 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,10:161:0.06211:65:-100:0.1105:4,1,1,2,0,2,21,60,10,33,13,24:100:100 +11 69523550 . C G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=FGF19;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005117.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69523550C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=508;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.0163977;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.344 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-100:0.1615:3,2,0,1,1,0,23,51,9,14,10,28:93.101:100 +11 69523592 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=FGF19;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005117.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69523592A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26285;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.850482;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.223 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,132:140:0.94286:65:-100:0.1566:19,54,8,16,10,25,21,56,8,17,10,28:100:100 +11 69583717 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=FGF4;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69583717C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=557;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.0180703;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.726 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,8:134:0.0597:65:-100:0.1299:3,3,0,0,0,2,29,42,12,17,14,20:94.119:100 +11 69583722 . A G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=FGF4;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69583722A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5850;CSQ_gnomADg_AN=30688;CSQ_gnomADg_AF=0.190628;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.062 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,31:123:0.25203:65:-100:0.2115:7,11,2,4,2,5,27,37,11,16,12,20:100:100 +11 69584435 . C T 100 PASS DP=107;CSQ_Allele=T;CSQ_SYMBOL=FGF4;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69584435C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30691;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.990927;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.199 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,95:107:0.88785:65:-100:0.1575:14,32,8,14,4,23,14,38,8,15,6,26:100:100 +11 69584735 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=FGF4;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69584735C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=556;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0179703;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.640 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,6:116:0.05172:65:-48.0981:0.1077:1,1,1,2,0,1,19,36,11,20,13,17:87.552:100 +11 69586222 . G C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=FGF4;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=NM_002007.4:c.*1855C>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69586222G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1153;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0372464;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=COSV51450979&COSV51450979&COSV51450979;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.337 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,18:143:0.12587:65:-100:0.1488:2,8,2,2,0,4,31,50,12,23,6,21:100:100 +11 69588613 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=FGF4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002007.4;CSQ_HGVSc=NM_002007.4:c.444+179G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69588613C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=162;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.00523831;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF4:S148int&FGF4:S148intd;CSQ_CADD_PHRED=7.138 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,8:157:0.05096:65:-100:0.1421:1,3,1,2,0,1,24,63,14,21,4,31:91.965:100 +11 69589142 . G A 100 PASS DP=83;CSQ_Allele=A;CSQ_SYMBOL=FGF4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002007.4;CSQ_HGVSc=NM_002007.4:c.341-247C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69589142G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7237;CSQ_gnomADg_AN=30780;CSQ_gnomADg_AF=0.23512;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.477 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,6:83:0.07229:65:-100:0.1616:4,1,1,0,0,0,23,18,7,11,18,6:75.473:100 +11 69589308 . A G 100 PASS DP=64;CSQ_Allele=G;CSQ_SYMBOL=FGF4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_002007.4;CSQ_HGVSc=NM_002007.4:c.340+205T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69589308A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24962;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.811192;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.039 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,33:64:0.51563:65:-100:0.1579:11,4,8,1,6,3,23,6,15,2,12,6:100:100 +11 69590088 . T TG 100 PASS DP=50;CSQ_Allele=G;CSQ_SYMBOL=FGF4;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=NM_002007.4:c.-237dup;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69590089dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4282;CSQ_gnomADg_AN=30720;CSQ_gnomADg_AF=0.139388;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF4:5UTR;CSQ_CADD_PHRED=13.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,15:50:0.3:65:-100:0:8,1,3,0,2,1,25,4,10,0,10,2:100:100 +11 69591515 . TC T 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=FGF4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69591520del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6917;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.224243;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.221 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,30:126:0.2381:65:-100:0:5,10,1,2,4,8,17,47,10,14,12,26:100:100 +11 69591809 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=FGF4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69591809C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6917;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.224243;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.086 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,21:149:0.14094:65:-100:0.1078:3,7,3,3,2,3,26,62,10,21,8,22:100:100 +11 69592140 . A T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=FGF4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69592140A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27495;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.889576;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.650 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,112:138:0.81159:65:-100:0.1834:18,40,5,30,4,15,24,47,8,34,6,19:100:100 +11 69592714 . T C 100 PASS DP=96;CSQ_Allele=C;CSQ_SYMBOL=FGF4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69592714T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27500;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.88945;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.182 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,83:96:0.86458:65:-100:0.2381:14,27,4,24,7,7,15,30,5,28,9,9:100:100 +11 69592748 . A T 100 PASS DP=88;CSQ_Allele=T;CSQ_SYMBOL=FGF4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69592748A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11836;CSQ_gnomADg_AN=30670;CSQ_gnomADg_AF=0.385915;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.682 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,51:88:0.57955:65:-100:0.2143:9,12,5,14,3,8,13,24,10,18,10,13:100:100 +11 69592814 . A G 100 PASS DP=107;CSQ_Allele=G;CSQ_SYMBOL=FGF4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69592814A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27167;CSQ_gnomADg_AN=30530;CSQ_gnomADg_AF=0.889846;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.963 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,87:107:0.81308:65:-100:0.2246:13,14,10,29,9,12,15,19,12,34,12,15:100:100 +11 69593357 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=FGF4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69593357C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=6.45911e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.142 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,17:120:0.14167:65:-100:0.1304:7,4,1,1,3,1,24,39,12,12,12,21:100:100 +11 69593691 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=FGF4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002007.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69593691A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.005 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,6:137:0.0438:65:-47.2185:0.1491:0,0,0,2,1,3,30,35,9,17,17,29:63.155:100 +11 69623405 . G C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=FGF3;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005247.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69623405G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6379;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.206267;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.184 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,41:137:0.29927:65:-100:0.1329:8,15,3,2,7,6,22,55,14,14,15,17:100:100 +11 69625385 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=FGF3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.408G>A;CSQ_HGVSp=NP_005238.1:p.Thr136%3D;CSQ_HGVSg=11:g.69625385C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259688;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2702;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0873755;CSQ_gnomADe_AC=19481;CSQ_gnomADe_AN=242822;CSQ_gnomADe_AF=0.0802275;CSQ_gnomADe_Hom=945;CSQ_COSMICcMuts=COSV61926295;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF3:T136T;CSQ_CADD_PHRED=2.282 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,14:159:0.08805:65:-100:0.1632:1,7,1,1,2,2,20,49,18,33,11,28:100:100 +11 69625730 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.325-262C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69625730G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1249252;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15219;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.493131;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.676 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,77:147:0.52381:65:-100:0.1145:12,31,7,11,3,13,29,52,17,21,9,19:100:100 +11 69626472 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.325-1004T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69626472A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17772;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.576901;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF3:S108int&FGF3:S108inta;CSQ_CADD_PHRED=3.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,91:138:0.65942:65:-100:0.1737:9,32,9,15,9,17,14,46,14,23,16,25:100:100 +11 69626918 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.325-1450G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69626918C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6510;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.211254;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF3:S108int&FGF3:S108inta;CSQ_CADD_PHRED=0.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,53:156:0.33974:65:-100:0.1381:5,19,5,8,5,11,24,59,14,24,9,26:100:100 +11 69627008 . C G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.325-1540G>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69627008C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15772;CSQ_gnomADg_AN=30560;CSQ_gnomADg_AF=0.516099;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.551 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,81:149:0.54362:65:-100:0.1337:5,32,5,20,5,14,18,52,12,32,11,24:100:100 +11 69627015 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.325-1547T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69627015A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17527;CSQ_gnomADg_AN=30548;CSQ_gnomADg_AF=0.573753;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,80:148:0.54054:65:-100:0.1445:7,32,2,21,4,14,19,53,8,33,10,25:100:100 +11 69629015 . CA TG 100 PASS DP=162;CSQ_Allele=TG;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.324+2072_324+2073inv;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69629015_69629016inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,21:162:0.12963:65:-100:0:3,7,0,2,3,6,48,120,24,42,32,58:100:100 +11 69629016 . A G 100 PASS DP=162;CSQ_Allele=G;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.324+2072T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69629016A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17636;CSQ_gnomADg_AN=30638;CSQ_gnomADg_AF=0.575625;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.546 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,75:162:0.46296:65:-100:0.1518:14,28,7,9,6,11,24,60,11,21,16,30:100:100 +11 69629124 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.324+1964G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69629124C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10709;CSQ_gnomADg_AN=30662;CSQ_gnomADg_AF=0.34926;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF3:S108int&FGF3:S108intd;CSQ_CADD_PHRED=5.629 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,67:156:0.42949:65:-100:0.1746:10,30,5,8,5,9,27,59,15,20,9,26:100:100 +11 69630333 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.324+755C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69630333G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2472;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.0799948;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.000 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,12:151:0.07947:65:-96.3602:0.1564:0,5,0,3,1,3,21,62,11,29,6,22:100:100 +11 69630504 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.324+584C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69630504G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6405;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.207241;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.756 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,39:142:0.27465:65:-100:0.1744:7,14,4,8,1,5,19,63,6,23,10,21:100:100 +11 69631731 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.221-540C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69631731G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10794;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.349909;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF3:S74int&FGF3:S74inta;CSQ_CADD_PHRED=1.562 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,80:151:0.5298:65:-100:0.1322:19,23,7,15,3,13,28,50,13,28,10,22:100:100 +11 69632249 . T A 100 PASS DP=91;CSQ_Allele=A;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.221-1058A>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69632249T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10700;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.347132;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.157 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,50:91:0.54945:65:-100:0.2541:9,15,7,3,5,11,18,30,8,9,13,13:100:100 +11 69633037 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.220+445C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69633037G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10915;CSQ_gnomADg_AN=30784;CSQ_gnomADg_AF=0.354567;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF3:S74int&FGF3:S74intd;CSQ_CADD_PHRED=12.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,68:119:0.57143:65:-100:0.1849:8,22,8,16,7,7,17,34,18,24,13,13:100:100 +11 69633310 . C A 100 PASS DP=116;CSQ_Allele=A;CSQ_SYMBOL=FGF3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.220+172G>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69633310C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1225751;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4372;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.141874;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.403 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,27:116:0.23276:65:-100:0.2055:6,11,5,2,1,2,24,39,14,15,13,11:100:100 +11 69633633 . C A 100 PASS DP=10;CSQ_Allele=A;CSQ_SYMBOL=FGF3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_005247.4;CSQ_HGVSc=NM_005247.4:c.69G>T;CSQ_HGVSp=NP_005238.1:p.Ala23%3D;CSQ_HGVSg=11:g.69633633C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259690;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=3308;CSQ_gnomADg_AN=30488;CSQ_gnomADg_AF=0.108502;CSQ_gnomADe_AC=6765;CSQ_gnomADe_AN=75128;CSQ_gnomADe_AF=0.0900463;CSQ_gnomADe_Hom=380;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF3:A23A;CSQ_CADD_PHRED=2.895 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,5:10:0.5:65:-100:0.0909:1,0,0,0,4,0,2,0,1,0,7,0:88.546:100 +11 69634716 . G C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=FGF3;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005247.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69634716G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10971;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.355325;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.156 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,89:156:0.57051:65:-100:0.1333:11,32,5,19,8,14,22,57,13,24,15,25:100:100 +11 69635422 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=FGF3;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_005247.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.69635422C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8841;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.286599;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.605 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,51:156:0.32692:65:-100:0.1381:10,17,3,12,2,7,27,43,14,35,7,30:100:100 +11 76174909 . C A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=EMSY;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/22;CSQ_INTRON=.;CSQ_Feature=NM_001300942.2;CSQ_HGVSc=NM_001300942.2:c.661C>A;CSQ_HGVSp=NP_001287871.1:p.Arg221%3D;CSQ_HGVSg=11:g.76174909C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=786204;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=383;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0123732;CSQ_gnomADe_AC=886;CSQ_gnomADe_AN=246240;CSQ_gnomADe_AF=0.00359812;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EMSY:R206R&EMSY:R207R&EMSY:R221R;CSQ_CADD_PHRED=12.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,18:158:0.11392:65:-100:0.1813:6,7,2,0,2,1,27,56,11,29,13,22:100:100 +11 76174909 . C A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=EMSY;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/21;CSQ_INTRON=.;CSQ_Feature=NM_001300943.2;CSQ_HGVSc=NM_001300943.2:c.619C>A;CSQ_HGVSp=NP_001287872.1:p.Arg207%3D;CSQ_HGVSg=11:g.76174909C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=786204;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=383;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0123732;CSQ_gnomADe_AC=886;CSQ_gnomADe_AN=246240;CSQ_gnomADe_AF=0.00359812;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EMSY:R206R&EMSY:R207R&EMSY:R221R;CSQ_CADD_PHRED=12.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,18:158:0.11392:65:-100:0.1813:6,7,2,0,2,1,27,56,11,29,13,22:100:100 +11 76257215 . T C 100 PASS DP=171;CSQ_Allele=C;CSQ_SYMBOL=EMSY;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/22;CSQ_INTRON=.;CSQ_Feature=NM_001300942.2;CSQ_HGVSc=NM_001300942.2:c.3693T>C;CSQ_HGVSp=NP_001287871.1:p.Thr1231%3D;CSQ_HGVSg=11:g.76257215T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8357;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.270226;CSQ_gnomADe_AC=65966;CSQ_gnomADe_AN=245940;CSQ_gnomADe_AF=0.26822;CSQ_gnomADe_Hom=9762;CSQ_COSMICcMuts=COSV58258432&COSV58258432&COSV58258432&COSV58258432&COSV58258432&COSV58258432&COSV58258432&COSV58258432;CSQ_COSMICncMuts=COSV58258432&COSV58258432&COSV58258432;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EMSY:T1216T&EMSY:T1217T&EMSY:T1231T;CSQ_CADD_PHRED=11.05 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,47:171:0.27485:65:-100:0.145:6,24,5,7,3,2,27,69,15,29,11,20:100:100 +11 76257215 . T C 100 PASS DP=171;CSQ_Allele=C;CSQ_SYMBOL=EMSY;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/21;CSQ_INTRON=.;CSQ_Feature=NM_001300943.2;CSQ_HGVSc=NM_001300943.2:c.3651T>C;CSQ_HGVSp=NP_001287872.1:p.Thr1217%3D;CSQ_HGVSg=11:g.76257215T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8357;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.270226;CSQ_gnomADe_AC=65966;CSQ_gnomADe_AN=245940;CSQ_gnomADe_AF=0.26822;CSQ_gnomADe_Hom=9762;CSQ_COSMICcMuts=COSV58258432&COSV58258432&COSV58258432&COSV58258432&COSV58258432&COSV58258432&COSV58258432&COSV58258432;CSQ_COSMICncMuts=COSV58258432&COSV58258432&COSV58258432;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EMSY:T1216T&EMSY:T1217T&EMSY:T1231T;CSQ_CADD_PHRED=11.05 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,47:171:0.27485:65:-100:0.145:6,24,5,7,3,2,27,69,15,29,11,20:100:100 +11 77050714 . A C 100 PASS DP=180;CSQ_Allele=C;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.1116+977T>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77050714A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9350;CSQ_gnomADg_AN=30792;CSQ_gnomADg_AF=0.30365;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK1:E274int&PAK1:E274intd&PAK1:E276int&PAK1:E276intd&PAK1:E289int&PAK1:E289intd&PAK1:E313int&PAK1:E313intd&PAK1:E369int&PAK1:E369intd&PAK1:E372int&PAK1:E372intd&PAK1:E379int&PAK1:E379intd;CSQ_CADD_PHRED=7.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,34:180:0.18889:65:-100:0.1045:5,12,3,6,1,7,29,54,13,35,14,35:100:100 +11 77050714 . A C 100 PASS DP=180;CSQ_Allele=C;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.1116+977T>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77050714A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9350;CSQ_gnomADg_AN=30792;CSQ_gnomADg_AF=0.30365;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK1:E274int&PAK1:E274intd&PAK1:E276int&PAK1:E276intd&PAK1:E289int&PAK1:E289intd&PAK1:E313int&PAK1:E313intd&PAK1:E369int&PAK1:E369intd&PAK1:E372int&PAK1:E372intd&PAK1:E379int&PAK1:E379intd;CSQ_CADD_PHRED=7.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,34:180:0.18889:65:-100:0.1045:5,12,3,6,1,7,29,54,13,35,14,35:100:100 +11 77052022 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.999-214G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77052022C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=132;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00426191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.045 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,20:148:0.13514:65:-100:0.1138:4,5,3,4,3,1,24,48,12,20,24,20:100:100 +11 77052022 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.999-214G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77052022C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=132;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00426191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.045 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,20:148:0.13514:65:-100:0.1138:4,5,3,4,3,1,24,48,12,20,24,20:100:100 +11 77052071 . T C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.999-263A>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77052071T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7240;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.233941;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.843 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,20:120:0.16667:65:-100:0.1837:3,6,1,3,4,3,18,36,11,17,20,18:100:100 +11 77052071 . T C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.999-263A>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77052071T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7240;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.233941;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.843 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,20:120:0.16667:65:-100:0.1837:3,6,1,3,4,3,18,36,11,17,20,18:100:100 +11 77070006 . A C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=PAK1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/16;CSQ_INTRON=.;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.534T>G;CSQ_HGVSp=NP_001122092.1:p.Asp178Glu;CSQ_HGVSg=11:g.77070006A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.136;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1525:1,5,3,2,2,1,21,48,14,35,14,18:100:100 +11 77070006 . A C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=PAK1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/15;CSQ_INTRON=.;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.534T>G;CSQ_HGVSp=NP_002567.3:p.Asp178Glu;CSQ_HGVSg=11:g.77070006A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.136;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.69 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1525:1,5,3,2,2,1,21,48,14,35,14,18:100:100 +11 77072290 . A G 100 PASS DP=139;CSQ_Allele=G;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.478-2228T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77072290A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21740;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.70397;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.030 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,58:139:0.41727:65:-100:0.0974:4,28,4,10,4,8,17,61,10,23,9,19:100:100 +11 77072290 . A G 100 PASS DP=139;CSQ_Allele=G;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.478-2228T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77072290A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21740;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.70397;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.030 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,58:139:0.41727:65:-100:0.0974:4,28,4,10,4,8,17,61,10,23,9,19:100:100 +11 77106700 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.-21-3114G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77106700C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7890;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.255323;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK1:5UTR&PAK1:5UTRint&PAK1:5UTRinta&PAK1:5UTRintd;CSQ_CADD_PHRED=5.398 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,21:148:0.14189:65:-100:0.1243:1,10,2,1,3,4,31,39,7,26,20,25:100:100 +11 77106700 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.-21-3114G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77106700C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7890;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.255323;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK1:5UTR&PAK1:5UTRint&PAK1:5UTRinta&PAK1:5UTRintd;CSQ_CADD_PHRED=5.398 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,21:148:0.14189:65:-100:0.1243:1,10,2,1,3,4,31,39,7,26,20,25:100:100 +11 77126820 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.-21-23234G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77126820C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7879;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.255862;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.109 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,17:136:0.125:65:-100:0.2:1,6,2,2,5,1,18,49,11,19,16,23:100:100 +11 77126820 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.-21-23234G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77126820C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7879;CSQ_gnomADg_AN=30794;CSQ_gnomADg_AF=0.255862;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.109 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,17:136:0.125:65:-100:0.2:1,6,2,2,5,1,18,49,11,19,16,23:100:100 +11 77133704 . G T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.-21-30118C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77133704G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2097;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.067807;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,12:143:0.08392:65:-100:0.1782:1,4,0,4,0,3,16,44,11,38,9,25:100:100 +11 77133704 . G T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.-21-30118C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77133704G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2097;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.067807;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,12:143:0.08392:65:-100:0.1782:1,4,0,4,0,3,16,44,11,38,9,25:100:100 +11 77133777 . C G 100 PASS DP=170;CSQ_Allele=G;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.-21-30191G>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77133777C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7893;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.255437;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,25:170:0.14706:65:-100:0.1327:4,7,1,3,6,4,25,56,12,31,20,26:100:100 +11 77133777 . C G 100 PASS DP=170;CSQ_Allele=G;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.-21-30191G>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77133777C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7893;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.255437;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,25:170:0.14706:65:-100:0.1327:4,7,1,3,6,4,25,56,12,31,20,26:100:100 +11 77148704 . G T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.-22+35893C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77148704G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4297;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.139116;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK1:5UTR&PAK1:5UTRint&PAK1:5UTRinta&PAK1:5UTRintd;CSQ_CADD_PHRED=0.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,9:128:0.07031:65:-100:0.1409:1,1,2,0,4,1,18,39,10,21,21,19:100:100 +11 77148704 . G T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.-22+35893C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77148704G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4297;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.139116;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK1:5UTR&PAK1:5UTRint&PAK1:5UTRinta&PAK1:5UTRintd;CSQ_CADD_PHRED=0.270 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,9:128:0.07031:65:-100:0.1409:1,1,2,0,4,1,18,39,10,21,21,19:100:100 +11 77148788 . TA T 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.-22+35808del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77148792del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14338;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.464464;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.789 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,26:123:0.21138:65:-100:0:5,10,2,2,3,4,20,42,12,18,11,20:100:100 +11 77148788 . TA T 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.-22+35808del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77148792del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14338;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.464464;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.789 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,26:123:0.21138:65:-100:0:5,10,2,2,3,4,20,42,12,18,11,20:100:100 +11 77163792 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/15;CSQ_Feature=NM_001128620.2;CSQ_HGVSc=NM_001128620.2:c.-22+20805C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77163792G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21593;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.699029;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK1:5UTR&PAK1:5UTRint&PAK1:5UTRintd;CSQ_CADD_PHRED=4.872 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,61:171:0.35673:65:-100:0.1659:6,21,5,14,6,9,23,57,10,30,22,29:100:100 +11 77163792 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=PAK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_002576.5;CSQ_HGVSc=NM_002576.5:c.-22+20805C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.77163792G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21593;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.699029;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK1:5UTR&PAK1:5UTRint&PAK1:5UTRintd;CSQ_CADD_PHRED=4.872 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,61:171:0.35673:65:-100:0.1659:6,21,5,14,6,9,23,57,10,30,22,29:100:100 +11 85968623 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=EED;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_003797.5;CSQ_HGVSc=NM_003797.5:c.619C>T;CSQ_HGVSp=NP_003788.2:p.Leu207%3D;CSQ_HGVSg=11:g.85968623C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1165047;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cohen-Gibson_syndrome¬_provided;CSQ_gnomADg_AC=10653;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.345204;CSQ_gnomADe_AC=88900;CSQ_gnomADe_AN=242288;CSQ_gnomADe_AF=0.366919;CSQ_gnomADe_Hom=17182;CSQ_COSMICcMuts=COSV54552864&COSV54552864&COSV54552864&COSV54552864;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EED:L207L;CSQ_CADD_PHRED=11.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,23:118:0.19492:65:-100:0.1061:6,7,0,4,4,2,21,32,18,20,9,18:100:100 +11 94153326 . T C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=MRE11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/19;CSQ_INTRON=.;CSQ_Feature=NM_005590.4;CSQ_HGVSc=NM_005590.4:c.2008A>G;CSQ_HGVSp=NP_005581.2:p.Met670Val;CSQ_HGVSg=11:g.94153326T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129622;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Ataxia-telangiectasia-like_disorder&Hereditary_cancer-predisposing_syndrome&Ataxia-telangiectasia-like_disorder_1¬_specified¬_provided;CSQ_gnomADg_AC=174;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00562088;CSQ_gnomADe_AC=327;CSQ_gnomADe_AN=239348;CSQ_gnomADe_AF=0.00136621;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=COSV60574817&COSV60574817&COSV60574817&COSV60574817;CSQ_COSMICncMuts=COSV60574817;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=0.134;CSQ_Mastermind_MMID3=MRE11:M670V&MRE11:M697V&MRE11:M698V;CSQ_CADD_PHRED=16.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,12:112:0.10714:65:-100:0.1515:1,5,0,3,2,1,18,42,11,20,6,15:100:100 +11 94153326 . T C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=MRE11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_005591.4;CSQ_HGVSc=NM_005591.4:c.2092A>G;CSQ_HGVSp=NP_005582.1:p.Met698Val;CSQ_HGVSg=11:g.94153326T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129622;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Ataxia-telangiectasia-like_disorder&Hereditary_cancer-predisposing_syndrome&Ataxia-telangiectasia-like_disorder_1¬_specified¬_provided;CSQ_gnomADg_AC=174;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00562088;CSQ_gnomADe_AC=327;CSQ_gnomADe_AN=239348;CSQ_gnomADe_AF=0.00136621;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=COSV60574817&COSV60574817&COSV60574817&COSV60574817;CSQ_COSMICncMuts=COSV60574817;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=0.134;CSQ_Mastermind_MMID3=MRE11:M670V&MRE11:M697V&MRE11:M698V;CSQ_CADD_PHRED=16.36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,12:112:0.10714:65:-100:0.1515:1,5,0,3,2,1,18,42,11,20,6,15:100:100 +11 94209488 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=MRE11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/19;CSQ_INTRON=.;CSQ_Feature=NM_005590.4;CSQ_HGVSc=NM_005590.4:c.626C>T;CSQ_HGVSp=NP_005581.2:p.Ser209Phe;CSQ_HGVSg=11:g.94209488G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=466442;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Ataxia-telangiectasia-like_disorder;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60580266&COSV60580266&COSV60580266&COSV60580266&COSV60580266;CSQ_COSMICncMuts=COSV60580266&COSV60580266&COSV60580266&COSV60580266;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.512;CSQ_Mastermind_MMID3=MRE11:S209F;CSQ_CADD_PHRED=23.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,13:119:0.10924:65:-100:0.156:1,6,3,2,1,0,17,44,8,21,12,17:100:100 +11 94209488 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=MRE11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/20;CSQ_INTRON=.;CSQ_Feature=NM_005591.4;CSQ_HGVSc=NM_005591.4:c.626C>T;CSQ_HGVSp=NP_005582.1:p.Ser209Phe;CSQ_HGVSg=11:g.94209488G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=466442;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Ataxia-telangiectasia-like_disorder;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60580266&COSV60580266&COSV60580266&COSV60580266&COSV60580266;CSQ_COSMICncMuts=COSV60580266&COSV60580266&COSV60580266&COSV60580266;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.512;CSQ_Mastermind_MMID3=MRE11:S209F;CSQ_CADD_PHRED=23.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,13:119:0.10924:65:-100:0.156:1,6,3,2,1,0,17,44,8,21,12,17:100:100 +11 100909991 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.2658A>G;CSQ_HGVSp=NP_000917.3:p.Gln886%3D;CSQ_HGVSg=11:g.100909991T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8813;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.285821;CSQ_gnomADe_AC=58904;CSQ_gnomADe_AN=244932;CSQ_gnomADe_AF=0.240491;CSQ_gnomADe_Hom=7672;CSQ_COSMICcMuts=COSV54809154&COSV54809154&COSV54809154;CSQ_COSMICncMuts=COSV54809154;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PGR:Q292Q&PGR:Q620Q&PGR:Q722Q&PGR:Q886Q;CSQ_CADD_PHRED=7.980 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,24:121:0.19835:65:-100:0.1295:2,8,2,6,2,4,15,45,14,20,8,19:100:100 +11 100909991 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.1860A>G;CSQ_HGVSp=NP_001258090.1:p.Gln620%3D;CSQ_HGVSg=11:g.100909991T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8813;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.285821;CSQ_gnomADe_AC=58904;CSQ_gnomADe_AN=244932;CSQ_gnomADe_AF=0.240491;CSQ_gnomADe_Hom=7672;CSQ_COSMICcMuts=COSV54809154&COSV54809154&COSV54809154;CSQ_COSMICncMuts=COSV54809154;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PGR:Q292Q&PGR:Q620Q&PGR:Q722Q&PGR:Q886Q;CSQ_CADD_PHRED=7.980 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,24:121:0.19835:65:-100:0.1295:2,8,2,6,2,4,15,45,14,20,8,19:100:100 +11 100922202 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.2310C>T;CSQ_HGVSp=NP_000917.3:p.His770%3D;CSQ_HGVSg=11:g.100922202G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3697;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.119636;CSQ_gnomADe_AC=31605;CSQ_gnomADe_AN=245206;CSQ_gnomADe_AF=0.128892;CSQ_gnomADe_Hom=2442;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PGR:H176H&PGR:H504H&PGR:H606H&PGR:H770H;CSQ_CADD_PHRED=7.094 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,21:129:0.16279:65:-100:0.1103:3,7,2,3,0,6,30,40,13,16,10,20:100:100 +11 100922202 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.1512C>T;CSQ_HGVSp=NP_001258090.1:p.His504%3D;CSQ_HGVSg=11:g.100922202G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3697;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.119636;CSQ_gnomADe_AC=31605;CSQ_gnomADe_AN=245206;CSQ_gnomADe_AF=0.128892;CSQ_gnomADe_Hom=2442;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PGR:H176H&PGR:H504H&PGR:H606H&PGR:H770H;CSQ_CADD_PHRED=7.094 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,21:129:0.16279:65:-100:0.1103:3,7,2,3,0,6,30,40,13,16,10,20:100:100 +11 100933412 . C A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.1978G>T;CSQ_HGVSp=NP_000917.3:p.Val660Leu;CSQ_HGVSg=11:g.100933412C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3786;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.122413;CSQ_gnomADe_AC=31957;CSQ_gnomADe_AN=244752;CSQ_gnomADe_AF=0.130569;CSQ_gnomADe_Hom=2489;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.210;CSQ_Mastermind_MMID3=PGR:G472int&PGR:G472inta&PGR:V496L&PGR:V660L&PGR:V66L;CSQ_CADD_PHRED=17.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,19:150:0.12667:65:-100:0.1279:7,8,0,3,0,1,24,57,14,20,9,26:100:100 +11 100933412 . C A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/6;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.1415-11113G>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.100933412C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3786;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.122413;CSQ_gnomADe_AC=31957;CSQ_gnomADe_AN=244752;CSQ_gnomADe_AF=0.130569;CSQ_gnomADe_Hom=2489;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PGR:G472int&PGR:G472inta&PGR:V496L&PGR:V660L&PGR:V66L;CSQ_CADD_PHRED=17.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,19:150:0.12667:65:-100:0.1279:7,8,0,3,0,1,24,57,14,20,9,26:100:100 +11 100998623 . G A 100 PASS DP=80;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.1179C>T;CSQ_HGVSp=NP_000917.3:p.Gly393%3D;CSQ_HGVSg=11:g.100998623G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7467;CSQ_gnomADg_AN=30314;CSQ_gnomADg_AF=0.246322;CSQ_gnomADe_AC=60724;CSQ_gnomADe_AN=226360;CSQ_gnomADe_AF=0.268263;CSQ_gnomADe_Hom=9515;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PGR:5UTR&PGR:5UTRint&PGR:5UTRintd&PGR:G229G&PGR:G393G;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,9:80:0.1125:65:-100:0.3277:3,2,2,2,0,0,21,16,13,13,8,9:100:100 +11 100998623 . G A 100 PASS DP=80;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.687C>T;CSQ_HGVSp=NP_001258090.1:p.Gly229%3D;CSQ_HGVSg=11:g.100998623G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7467;CSQ_gnomADg_AN=30314;CSQ_gnomADg_AF=0.246322;CSQ_gnomADe_AC=60724;CSQ_gnomADe_AN=226360;CSQ_gnomADe_AF=0.268263;CSQ_gnomADe_Hom=9515;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PGR:5UTR&PGR:5UTRint&PGR:5UTRintd&PGR:G229G&PGR:G393G;CSQ_CADD_PHRED=12.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,9:80:0.1125:65:-100:0.3277:3,2,2,2,0,0,21,16,13,13,8,9:100:100 +11 100998762 . C G 100 PASS DP=114;CSQ_Allele=G;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.1040G>C;CSQ_HGVSp=NP_000917.3:p.Cys347Ser;CSQ_HGVSg=11:g.100998762C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=768473;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=854;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.0276608;CSQ_gnomADe_AC=1519;CSQ_gnomADe_AN=231614;CSQ_gnomADe_AF=0.00655833;CSQ_gnomADe_Hom=64;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=0.065;CSQ_Mastermind_MMID3=PGR:5UTR&PGR:5UTRint&PGR:5UTRintd&PGR:C183S&PGR:C347S;CSQ_CADD_PHRED=13.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,12:114:0.10526:65:-100:0.1679:3,4,0,4,0,1,25,36,6,25,8,14:100:100 +11 100998762 . C G 100 PASS DP=114;CSQ_Allele=G;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.548G>C;CSQ_HGVSp=NP_001258090.1:p.Cys183Ser;CSQ_HGVSg=11:g.100998762C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=768473;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=854;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.0276608;CSQ_gnomADe_AC=1519;CSQ_gnomADe_AN=231614;CSQ_gnomADe_AF=0.00655833;CSQ_gnomADe_Hom=64;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=0.065;CSQ_Mastermind_MMID3=PGR:5UTR&PGR:5UTRint&PGR:5UTRintd&PGR:C183S&PGR:C347S;CSQ_CADD_PHRED=13.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,12:114:0.10526:65:-100:0.1679:3,4,0,4,0,1,25,36,6,25,8,14:100:100 +11 100998771 . C G 100 PASS DP=107;CSQ_Allele=G;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.1031G>C;CSQ_HGVSp=NP_000917.3:p.Ser344Thr;CSQ_HGVSg=11:g.100998771C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3792;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.123173;CSQ_gnomADe_AC=30182;CSQ_gnomADe_AN=228874;CSQ_gnomADe_AF=0.131872;CSQ_gnomADe_Hom=2332;CSQ_COSMICcMuts=COSV54806663&COSV54806663&COSV54806663;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.019;CSQ_Mastermind_MMID3=PGR:5UTR&PGR:5UTRint&PGR:5UTRintd&PGR:S180T&PGR:S344T;CSQ_CADD_PHRED=17.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,19:107:0.17757:65:-100:0.2015:3,7,0,2,3,4,23,36,6,23,7,12:100:100 +11 100998771 . C G 100 PASS DP=107;CSQ_Allele=G;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.539G>C;CSQ_HGVSp=NP_001258090.1:p.Ser180Thr;CSQ_HGVSg=11:g.100998771C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3792;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.123173;CSQ_gnomADe_AC=30182;CSQ_gnomADe_AN=228874;CSQ_gnomADe_AF=0.131872;CSQ_gnomADe_Hom=2332;CSQ_COSMICcMuts=COSV54806663&COSV54806663&COSV54806663;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.019;CSQ_Mastermind_MMID3=PGR:5UTR&PGR:5UTRint&PGR:5UTRintd&PGR:S180T&PGR:S344T;CSQ_CADD_PHRED=17.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,19:107:0.17757:65:-100:0.2015:3,7,0,2,3,4,23,36,6,23,7,12:100:100 +11 100999013 . T C 100 PASS DP=80;CSQ_Allele=C;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.789A>G;CSQ_HGVSp=NP_000917.3:p.Gly263%3D;CSQ_HGVSg=11:g.100999013T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=768474;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=284;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.00919094;CSQ_gnomADe_AC=430;CSQ_gnomADe_AN=201578;CSQ_gnomADe_AF=0.00213317;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.625 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,5:80:0.0625:65:-48.2791:0.1667:2,2,1,0,0,0,24,18,9,10,9,10:66.487:100 +11 100999013 . T C 100 PASS DP=80;CSQ_Allele=C;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.297A>G;CSQ_HGVSp=NP_001258090.1:p.Gly99%3D;CSQ_HGVSg=11:g.100999013T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=768474;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=284;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.00919094;CSQ_gnomADe_AC=430;CSQ_gnomADe_AN=201578;CSQ_gnomADe_AF=0.00213317;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.625 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,5:80:0.0625:65:-48.2791:0.1667:2,2,1,0,0,0,24,18,9,10,9,10:66.487:100 +11 100999190 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.612C>T;CSQ_HGVSp=NP_000917.3:p.His204%3D;CSQ_HGVSg=11:g.100999190G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=768475;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=901;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0291209;CSQ_gnomADe_AC=1778;CSQ_gnomADe_AN=229620;CSQ_gnomADe_AF=0.00774323;CSQ_gnomADe_Hom=74;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.785 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,9:118:0.07627:65:-100:0.1806:2,3,0,2,1,1,21,30,14,23,6,24:100:100 +11 100999190 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.120C>T;CSQ_HGVSp=NP_001258090.1:p.His40%3D;CSQ_HGVSg=11:g.100999190G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=768475;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=901;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0291209;CSQ_gnomADe_AC=1778;CSQ_gnomADe_AN=229620;CSQ_gnomADe_AF=0.00774323;CSQ_gnomADe_Hom=74;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.785 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,9:118:0.07627:65:-100:0.1806:2,3,0,2,1,1,21,30,14,23,6,24:100:100 +11 100999242 . C A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.560G>T;CSQ_HGVSp=NP_000917.3:p.Arg187Leu;CSQ_HGVSg=11:g.100999242C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54806962&COSV54806962&COSV54806962;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.100;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,9:123:0.07317:65:-100:0.0956:2,3,1,2,1,0,19,40,13,25,10,16:100:100 +11 100999242 . C A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.68G>T;CSQ_HGVSp=NP_001258090.1:p.Arg23Leu;CSQ_HGVSg=11:g.100999242C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54806962&COSV54806962&COSV54806962;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.100;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,9:123:0.07317:65:-100:0.0956:2,3,1,2,1,0,19,40,13,25,10,16:100:100 +11 100999245 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000926.4;CSQ_HGVSc=NM_000926.4:c.557C>T;CSQ_HGVSp=NP_000917.3:p.Pro186Leu;CSQ_HGVSg=11:g.100999245G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=443;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0143245;CSQ_gnomADe_AC=2452;CSQ_gnomADe_AN=219648;CSQ_gnomADe_AF=0.0111633;CSQ_gnomADe_Hom=29;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=0.139;CSQ_Mastermind_MMID3=PGR:5UTR&PGR:5UTRint&PGR:5UTRintd&PGR:P186L&PGR:P22L;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,7:123:0.05691:65:-97.1625:0.0889:2,1,1,2,0,1,20,38,13,25,9,18:85.297:100 +11 100999245 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=PGR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001271161.2;CSQ_HGVSc=NM_001271161.2:c.65C>T;CSQ_HGVSp=NP_001258090.1:p.Pro22Leu;CSQ_HGVSg=11:g.100999245G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=443;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0143245;CSQ_gnomADe_AC=2452;CSQ_gnomADe_AN=219648;CSQ_gnomADe_AF=0.0111633;CSQ_gnomADe_Hom=29;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=0.139;CSQ_Mastermind_MMID3=PGR:5UTR&PGR:5UTRint&PGR:5UTRintd&PGR:P186L&PGR:P22L;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,7:123:0.05691:65:-97.1625:0.0889:2,1,1,2,0,1,20,38,13,25,9,18:85.297:100 +11 102193477 . G C 100 PASS DP=94;CSQ_Allele=C;CSQ_SYMBOL=BIRC3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_001165.5;CSQ_HGVSc=NM_001165.5:c.-1764G>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.102193477G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=558;CSQ_gnomADg_AN=26728;CSQ_gnomADg_AF=0.020877;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BIRC3:5UTR&BIRC3:5UTRint&BIRC3:5UTRintd;CSQ_CADD_PHRED=7.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,15:94:0.15957:65:-100:0.3188:2,5,0,4,0,4,13,28,6,16,5,26:100:100 +11 102193477 . G C 100 PASS DP=94;CSQ_Allele=C;CSQ_SYMBOL=BIRC3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/9;CSQ_Feature=NM_182962.3;CSQ_HGVSc=NM_182962.3:c.-50+846G>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.102193477G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=558;CSQ_gnomADg_AN=26728;CSQ_gnomADg_AF=0.020877;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BIRC3:5UTR&BIRC3:5UTRint&BIRC3:5UTRintd;CSQ_CADD_PHRED=7.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,15:94:0.15957:65:-100:0.3188:2,5,0,4,0,4,13,28,6,16,5,26:100:100 +11 102193638 . T A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=BIRC3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_001165.5;CSQ_HGVSc=NM_001165.5:c.-1603T>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.102193638T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.00203712;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.042 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,8:119:0.06723:65:-100:0.2171:3,4,0,0,0,1,24,37,13,16,5,24:99.294:100 +11 102193638 . T A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=BIRC3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/9;CSQ_Feature=NM_182962.3;CSQ_HGVSc=NM_182962.3:c.-50+1007T>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.102193638T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.00203712;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.042 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,8:119:0.06723:65:-100:0.2171:3,4,0,0,0,1,24,37,13,16,5,24:99.294:100 +11 102195501 . A G 100 PASS DP=172;CSQ_Allele=G;CSQ_SYMBOL=BIRC3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_001165.5;CSQ_HGVSc=NM_001165.5:c.261A>G;CSQ_HGVSp=NP_001156.1:p.Lys87%3D;CSQ_HGVSg=11:g.102195501A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=776651;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=375;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0121116;CSQ_gnomADe_AC=700;CSQ_gnomADe_AN=246214;CSQ_gnomADe_AF=0.00284306;CSQ_gnomADe_Hom=12;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,36:172:0.2093:65:-100:0.1569:5,17,1,6,2,5,22,63,14,41,7,25:100:100 +11 102195501 . A G 100 PASS DP=172;CSQ_Allele=G;CSQ_SYMBOL=BIRC3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_182962.3;CSQ_HGVSc=NM_182962.3:c.261A>G;CSQ_HGVSp=NP_892007.1:p.Lys87%3D;CSQ_HGVSg=11:g.102195501A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=776651;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=375;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0121116;CSQ_gnomADe_AC=700;CSQ_gnomADe_AN=246214;CSQ_gnomADe_AF=0.00284306;CSQ_gnomADe_Hom=12;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,36:172:0.2093:65:-100:0.1569:5,17,1,6,2,5,22,63,14,41,7,25:100:100 +11 108122592 . C G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=ATM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.1636C>G;CSQ_HGVSp=NP_000042.3:p.Leu546Val;CSQ_HGVSg=11:g.108122592C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133604;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=411;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0132752;CSQ_gnomADe_AC=929;CSQ_gnomADe_AN=246058;CSQ_gnomADe_AF=0.00377553;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV53733479&COSV53733479;CSQ_COSMICncMuts=COSV53733479&COSV53733479;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.067;CSQ_Mastermind_MMID3=ATM:L546V;CSQ_CADD_PHRED=11.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,10:126:0.07937:65:-100:0.1544:2,3,1,0,1,3,18,43,11,26,8,20:100:100 +11 108127010 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ATM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.2193C>T;CSQ_HGVSp=NP_000042.3:p.Tyr731%3D;CSQ_HGVSg=11:g.108127010C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=140761;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=411;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0132821;CSQ_gnomADe_AC=925;CSQ_gnomADe_AN=246012;CSQ_gnomADe_AF=0.00375998;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV53733497&COSV53733497;CSQ_COSMICncMuts=COSV53733497&COSV53733497&COSV53733497;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATM:Y731Y;CSQ_CADD_PHRED=1.179 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,6:127:0.04724:65:-96.2334:0.1419:0,2,1,3,0,0,27,31,13,24,12,20:60.991:100 +11 108138045 . C T 100 PASS DP=167;CSQ_Allele=T;CSQ_SYMBOL=ATM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.2614C>T;CSQ_HGVSp=NP_000042.3:p.Pro872Ser;CSQ_HGVSg=11:g.108138045C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133610;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=364;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0117647;CSQ_gnomADe_AC=848;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.00344413;CSQ_gnomADe_Hom=24;CSQ_COSMICcMuts=COSV53733521&COSV53733521;CSQ_COSMICncMuts=COSV53733521&COSV53733521;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=0.122;CSQ_Mastermind_MMID3=ATM:P872S;CSQ_CADD_PHRED=11.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,14:167:0.08383:65:-100:0.1022:4,6,0,2,0,2,41,57,12,25,9,23:100:100 +11 108139183 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ATM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.2685A>G;CSQ_HGVSp=NP_000042.3:p.Leu895%3D;CSQ_HGVSg=11:g.108139183A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=140770;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=365;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0117909;CSQ_gnomADe_AC=852;CSQ_gnomADe_AN=246140;CSQ_gnomADe_AF=0.00346144;CSQ_gnomADe_Hom=24;CSQ_COSMICcMuts=COSV53733542&COSV53733542;CSQ_COSMICncMuts=COSV53733542;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ATM:L895L;CSQ_CADD_PHRED=0.921 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,17:150:0.11333:65:-100:0.0798:2,5,2,3,1,4,19,57,18,26,14,16:100:100 +11 108150316 . A G 100 PASS DP=110;CSQ_Allele=G;CSQ_SYMBOL=ATM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.3383A>G;CSQ_HGVSp=NP_000042.3:p.Gln1128Arg;CSQ_HGVSg=11:g.108150316A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133615;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=183;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00590894;CSQ_gnomADe_AC=418;CSQ_gnomADe_AN=245646;CSQ_gnomADe_AF=0.00170164;CSQ_gnomADe_Hom=8;CSQ_COSMICcMuts=COSV53734962&COSV53734962;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.210;CSQ_Mastermind_MMID3=ATM:Q1128R;CSQ_CADD_PHRED=19.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,17:110:0.15455:65:-100:0.1667:4,3,2,6,0,2,20,32,15,19,11,13:100:100 +11 108159732 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=ATM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=28/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.4138C>T;CSQ_HGVSp=NP_000042.3:p.His1380Tyr;CSQ_HGVSg=11:g.108159732C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133619;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=648;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0209208;CSQ_gnomADe_AC=2988;CSQ_gnomADe_AN=246076;CSQ_gnomADe_AF=0.0121426;CSQ_gnomADe_Hom=81;CSQ_COSMICcMuts=COSV53753123&COSV53753123;CSQ_COSMICncMuts=COSV53753123&COSV53753123;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.164;CSQ_Mastermind_MMID3=ATM:H1380Y;CSQ_CADD_PHRED=14.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,25:120:0.20833:65:-100:0.084:10,8,2,2,3,0,26,41,13,14,12,14:100:100 +11 108183167 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=ATM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=40/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.5948A>G;CSQ_HGVSp=NP_000042.3:p.Asn1983Ser;CSQ_HGVSg=11:g.108183167A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133627;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Ataxia-telangiectasia_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=30966;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=246114;CSQ_gnomADe_AN=246114;CSQ_gnomADe_AF=1;CSQ_gnomADe_Hom=123057;CSQ_COSMICcMuts=COSV53724339&COSV53724339&COSV53724339;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.05;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.015;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.875 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,120:120:1:65:-100:0.1837:26,40,13,19,12,10,26,40,13,19,12,10:100:100 +11 108196929 . A C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=ATM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=47/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.6952A>C;CSQ_HGVSp=NP_000042.3:p.Lys2318Gln;CSQ_HGVSg=11:g.108196929A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=481352;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.484;CSQ_Mastermind_MMID3=ATM:K2318Q;CSQ_CADD_PHRED=26.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,8:148:0.05405:65:-95.2806:0.1494:1,2,1,1,1,2,23,51,15,22,13,24:100:100 +11 108198391 . T C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=ATM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=48/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.6995T>C;CSQ_HGVSp=NP_000042.3:p.Leu2332Pro;CSQ_HGVSg=11:g.108198391T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133631;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=179;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.00578016;CSQ_gnomADe_AC=378;CSQ_gnomADe_AN=245804;CSQ_gnomADe_AF=0.00153781;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV104592081&COSV104592081&COSV104592081;CSQ_COSMICncMuts=COSV104592081&COSV104592081;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.193;CSQ_Mastermind_MMID3=ATM:L2332P;CSQ_CADD_PHRED=15.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,11:120:0.09167:65:-100:0.1837:6,2,1,1,1,0,31,34,7,18,13,17:100:100 +11 108205832 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=ATM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=55/63;CSQ_INTRON=.;CSQ_Feature=NM_000051.4;CSQ_HGVSc=NM_000051.4:c.8147T>C;CSQ_HGVSp=NP_000042.3:p.Val2716Ala;CSQ_HGVSg=11:g.108205832T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=142700;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Ataxia-telangiectasia_syndrome&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_provided;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=6.45536e-05;CSQ_gnomADe_AC=7;CSQ_gnomADe_AN=246122;CSQ_gnomADe_AF=2.84412e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.905;CSQ_Mastermind_MMID3=ATM:V2716A&C11orf65:3UTR&C11orf65:3UTRint&C11orf65:3UTRintd&C11orf65:G214int&C11orf65:G214inta;CSQ_CADD_PHRED=26.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,5:137:0.0365:65:-48.1876:0.1329:1,1,1,1,1,0,26,48,14,22,9,18:83.171:100 +11 111963860 . A G 100 PASS DP=26;CSQ_Allele=G;CSQ_SYMBOL=SDHD;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001276503.2;CSQ_HGVSc=NM_001276503.2:c.170-1669A>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.111963860A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1247534;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=29067;CSQ_gnomADg_AN=30566;CSQ_gnomADg_AF=0.950959;CSQ_gnomADe_AC=80380;CSQ_gnomADe_AN=81154;CSQ_gnomADe_AF=0.990463;CSQ_gnomADe_Hom=39881;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHD:Q124R&SDHD:W105int&SDHD:W105inta&SDHD:W57int&SDHD:W57inta&SDHD:W66int&SDHD:W66inta;CSQ_CADD_PHRED=0.250 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,26:26:1:65:-100:0.2973:6,0,12,1,5,2,6,0,12,1,5,2:100:100 +11 111963860 . A G 100 PASS DP=26;CSQ_Allele=G;CSQ_SYMBOL=SDHD;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001276504.2;CSQ_HGVSc=NM_001276504.2:c.198-1669A>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.111963860A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1247534;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=29067;CSQ_gnomADg_AN=30566;CSQ_gnomADg_AF=0.950959;CSQ_gnomADe_AC=80380;CSQ_gnomADe_AN=81154;CSQ_gnomADe_AF=0.990463;CSQ_gnomADe_Hom=39881;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHD:Q124R&SDHD:W105int&SDHD:W105inta&SDHD:W57int&SDHD:W57inta&SDHD:W66int&SDHD:W66inta;CSQ_CADD_PHRED=0.250 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,26:26:1:65:-100:0.2973:6,0,12,1,5,2,6,0,12,1,5,2:100:100 +11 111963860 . A G 100 PASS DP=26;CSQ_Allele=G;CSQ_SYMBOL=SDHD;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/5;CSQ_INTRON=.;CSQ_Feature=NM_001276506.2;CSQ_HGVSc=NM_001276506.2:c.371A>G;CSQ_HGVSp=NP_001263435.1:p.Gln124Arg;CSQ_HGVSg=11:g.111963860A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1247534;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=29067;CSQ_gnomADg_AN=30566;CSQ_gnomADg_AF=0.950959;CSQ_gnomADe_AC=80380;CSQ_gnomADe_AN=81154;CSQ_gnomADe_AF=0.990463;CSQ_gnomADe_Hom=39881;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.204;CSQ_Mastermind_MMID3=SDHD:Q124R&SDHD:W105int&SDHD:W105inta&SDHD:W57int&SDHD:W57inta&SDHD:W66int&SDHD:W66inta;CSQ_CADD_PHRED=0.250 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,26:26:1:65:-100:0.2973:6,0,12,1,5,2,6,0,12,1,5,2:100:100 +11 111963860 . A G 100 PASS DP=26;CSQ_Allele=G;CSQ_SYMBOL=SDHD;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/3;CSQ_Feature=NM_003002.4;CSQ_HGVSc=NM_003002.4:c.315-1669A>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.111963860A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1247534;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=29067;CSQ_gnomADg_AN=30566;CSQ_gnomADg_AF=0.950959;CSQ_gnomADe_AC=80380;CSQ_gnomADe_AN=81154;CSQ_gnomADe_AF=0.990463;CSQ_gnomADe_Hom=39881;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SDHD:Q124R&SDHD:W105int&SDHD:W105inta&SDHD:W57int&SDHD:W57inta&SDHD:W66int&SDHD:W66inta;CSQ_CADD_PHRED=0.250 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,26:26:1:65:-100:0.2973:6,0,12,1,5,2,6,0,12,1,5,2:100:100 +11 118344185 . AC A 100 PASS DP=189;CSQ_Allele=-;CSQ_SYMBOL=KMT2A;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/36;CSQ_INTRON=.;CSQ_Feature=NM_001197104.2;CSQ_HGVSc=NM_001197104.2:c.2318del;CSQ_HGVSp=NP_001184033.1:p.Pro773ArgfsTer8;CSQ_HGVSg=11:g.118344192del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=522154;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Wiedemann-Steiner_syndrome&Inborn_genetic_diseases;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63282873&COSV63282873&COSV63282873;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,16:189:0.08466:65:-100:0:2,6,0,4,0,4,36,72,17,27,14,23:100:100 +11 118344493 . TAG T 100 PASS DP=201;CSQ_Allele=-;CSQ_SYMBOL=KMT2A;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/36;CSQ_INTRON=.;CSQ_Feature=NM_001197104.2;CSQ_HGVSc=NM_001197104.2:c.2629_2630del;CSQ_HGVSp=NP_001184033.1:p.Asp877ProfsTer8;CSQ_HGVSg=11:g.118344503_118344504del;CSQ_HGVS_OFFSET=9;CSQ_STRAND=1;CSQ_ClinVar=1073103;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=242064;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63282646&COSV63282646&COSV63282646;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:183,18:201:0.08955:65:-100:0:3,5,2,5,0,3,40,68,26,27,13,28:100:100 +11 118344553 . GA G 100 PASS DP=204;CSQ_Allele=-;CSQ_SYMBOL=KMT2A;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/36;CSQ_INTRON=.;CSQ_Feature=NM_001197104.2;CSQ_HGVSc=NM_001197104.2:c.2684del;CSQ_HGVSp=NP_001184033.1:p.Lys895ArgfsTer54;CSQ_HGVSg=11:g.118344558del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:191,13:204:0.06373:65:-100:0:4,5,0,3,0,1,26,79,21,33,17,28:100:100 +11 118373698 . C G 100 PASS DP=162;CSQ_Allele=G;CSQ_SYMBOL=KMT2A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=27/36;CSQ_INTRON=.;CSQ_Feature=NM_001197104.2;CSQ_HGVSc=NM_001197104.2:c.7091C>G;CSQ_HGVSp=NP_001184033.1:p.Ser2364Cys;CSQ_HGVSg=11:g.118373698C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=246190;CSQ_gnomADe_AF=1.21857e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63293178&COSV63293178&COSV63293178;CSQ_COSMICncMuts=COSV63293178;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=0.390;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,19:162:0.11728:65:-100:0.1563:1,8,2,3,0,5,30,51,13,30,13,25:100:100 +11 118375998 . G A 100 PASS DP=192;CSQ_Allele=A;CSQ_SYMBOL=KMT2A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=27/36;CSQ_INTRON=.;CSQ_Feature=NM_001197104.2;CSQ_HGVSc=NM_001197104.2:c.9391G>A;CSQ_HGVSp=NP_001184033.1:p.Gly3131Ser;CSQ_HGVSg=11:g.118375998G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=445858;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Wiedemann-Steiner_syndrome¬_provided;CSQ_gnomADg_AC=70;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00226054;CSQ_gnomADe_AC=585;CSQ_gnomADe_AN=245970;CSQ_gnomADe_AF=0.00237834;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=0.325;CSQ_Mastermind_MMID3=KMT2A:G3128S&KMT2A:G3131S;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:181,11:192:0.05729:65:-100:0.1152:2,2,0,1,1,5,26,90,10,27,13,26:100:100 +11 125501511 . A AACACTTTGG 100 PASS DP=141;CSQ_Allele=ACACTTTGG;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_001114121.2;CSQ_HGVSc=NM_001114121.2:c.425-1547_425-1546insACACTTTGG;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125501511_125501512insACACTTTGG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2301;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.0745915;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.600 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,20:141:0.14184:65:-100:0:5,6,2,3,1,3,23,46,12,19,10,31:100:100 +11 125501511 . A AACACTTTGG 100 PASS DP=141;CSQ_Allele=ACACTTTGG;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001114122.3;CSQ_HGVSc=NM_001114122.3:c.425-1547_425-1546insACACTTTGG;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125501511_125501512insACACTTTGG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2301;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.0745915;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.600 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,20:141:0.14184:65:-100:0:5,6,2,3,1,3,23,46,12,19,10,31:100:100 +11 125501511 . A AACACTTTGG 100 PASS DP=141;CSQ_Allele=ACACTTTGG;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/11;CSQ_Feature=NM_001244846.1;CSQ_HGVSc=NM_001244846.1:c.425-1547_425-1546insACACTTTGG;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125501511_125501512insACACTTTGG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2301;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.0745915;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.600 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,20:141:0.14184:65:-100:0:5,6,2,3,1,3,23,46,12,19,10,31:100:100 +11 125504395 . GT G 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/13;CSQ_Feature=NM_001114121.2;CSQ_HGVSc=NM_001114121.2:c.614-921del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125504403del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.930 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,20:123:0.1626:65:-100:0:7,2,1,1,4,5,23,40,12,14,12,22:100:100 +11 125504395 . GT G 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001114122.3;CSQ_HGVSc=NM_001114122.3:c.614-921del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125504403del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.930 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,20:123:0.1626:65:-100:0:7,2,1,1,4,5,23,40,12,14,12,22:100:100 +11 125504395 . GT G 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001244846.1;CSQ_HGVSc=NM_001244846.1:c.614-921del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125504403del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.930 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,20:123:0.1626:65:-100:0:7,2,1,1,4,5,23,40,12,14,12,22:100:100 +11 125520725 . CAG C 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_001114121.2;CSQ_HGVSc=NM_001114121.2:c.1234-2912_1234-2911del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125520729_125520730del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.316879;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.849 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,57:123:0.46341:65:-100:0:5,21,7,15,4,5,19,43,14,25,9,14:100:100 +11 125520725 . CAG C 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/12;CSQ_Feature=NM_001114122.3;CSQ_HGVSc=NM_001114122.3:c.1234-2912_1234-2911del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125520729_125520730del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.316879;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.849 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,57:123:0.46341:65:-100:0:5,21,7,15,4,5,19,43,14,25,9,14:100:100 +11 125520725 . CAG C 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001244846.1;CSQ_HGVSc=NM_001244846.1:c.1234-4391_1234-4390del;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125520729_125520730del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9777;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.316879;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.849 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,57:123:0.46341:65:-100:0:5,21,7,15,4,5,19,43,14,25,9,14:100:100 +11 125520789 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_001114121.2;CSQ_HGVSc=NM_001114121.2:c.1234-2852T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125520789T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2237;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0722499;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.829 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,23:148:0.15541:65:-100:0.1445:4,8,1,5,1,4,24,54,10,30,14,16:100:100 +11 125520789 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/12;CSQ_Feature=NM_001114122.3;CSQ_HGVSc=NM_001114122.3:c.1234-2852T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125520789T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2237;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0722499;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.829 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,23:148:0.15541:65:-100:0.1445:4,8,1,5,1,4,24,54,10,30,14,16:100:100 +11 125520789 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001244846.1;CSQ_HGVSc=NM_001244846.1:c.1234-4331T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125520789T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2237;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0722499;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.829 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,23:148:0.15541:65:-100:0.1445:4,8,1,5,1,4,24,54,10,30,14,16:100:100 +11 125522188 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/13;CSQ_Feature=NM_001114121.2;CSQ_HGVSc=NM_001114121.2:c.1234-1453T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125522188T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2335;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0753858;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.139 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0.1208:2,3,2,4,1,2,21,37,14,21,13,25:100:100 +11 125522188 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/12;CSQ_Feature=NM_001114122.3;CSQ_HGVSc=NM_001114122.3:c.1234-1453T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125522188T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2335;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0753858;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.139 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0.1208:2,3,2,4,1,2,21,37,14,21,13,25:100:100 +11 125522188 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=CHEK1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001244846.1;CSQ_HGVSc=NM_001244846.1:c.1234-2932T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.125522188T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2335;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0753858;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.139 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0.1208:2,3,2,4,1,2,21,37,14,21,13,25:100:100 +11 125525195 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=CHEK1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/14;CSQ_INTRON=.;CSQ_Feature=NM_001114121.2;CSQ_HGVSc=NM_001114121.2:c.1411A>G;CSQ_HGVSp=NP_001107593.1:p.Ile471Val;CSQ_HGVSg=11:g.125525195A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=496139;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30278;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.977403;CSQ_gnomADe_AC=239299;CSQ_gnomADe_AN=245970;CSQ_gnomADe_AF=0.972879;CSQ_gnomADe_Hom=116453;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.053;CSQ_Mastermind_MMID3=CHEK1:I370V&CHEK1:I377V&CHEK1:I437V&CHEK1:I471V&CHEK1:I487V;CSQ_CADD_PHRED=14.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,152:159:0.95597:65:-100:0.1359:37,41,11,25,8,30,37,43,12,26,9,32:100:100 +11 125525195 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=CHEK1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001114122.3;CSQ_HGVSc=NM_001114122.3:c.1411A>G;CSQ_HGVSp=NP_001107594.1:p.Ile471Val;CSQ_HGVSg=11:g.125525195A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=496139;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30278;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.977403;CSQ_gnomADe_AC=239299;CSQ_gnomADe_AN=245970;CSQ_gnomADe_AF=0.972879;CSQ_gnomADe_Hom=116453;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.053;CSQ_Mastermind_MMID3=CHEK1:I370V&CHEK1:I377V&CHEK1:I437V&CHEK1:I471V&CHEK1:I487V;CSQ_CADD_PHRED=14.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,152:159:0.95597:65:-100:0.1359:37,41,11,25,8,30,37,43,12,26,9,32:100:100 +11 125525195 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=CHEK1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001244846.1;CSQ_HGVSc=NM_001244846.1:c.1309A>G;CSQ_HGVSp=NP_001231775.1:p.Ile437Val;CSQ_HGVSg=11:g.125525195A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=496139;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30278;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.977403;CSQ_gnomADe_AC=239299;CSQ_gnomADe_AN=245970;CSQ_gnomADe_AF=0.972879;CSQ_gnomADe_Hom=116453;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.053;CSQ_Mastermind_MMID3=CHEK1:I370V&CHEK1:I377V&CHEK1:I437V&CHEK1:I471V&CHEK1:I487V;CSQ_CADD_PHRED=14.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,152:159:0.95597:65:-100:0.1359:37,41,11,25,8,30,37,43,12,26,9,32:100:100 +11 128328913 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=ETS1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001143820.2;CSQ_HGVSc=NM_001143820.2:c.*3343C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128328913G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7644;CSQ_gnomADg_AN=29256;CSQ_gnomADg_AF=0.26128;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:3UTR;CSQ_CADD_PHRED=15.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,16:119:0.13445:65:-100:0.1849:1,7,1,2,0,5,23,41,9,21,8,17:100:100 +11 128328913 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=ETS1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001162422.2;CSQ_HGVSc=NM_001162422.2:c.*3343C>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128328913G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7644;CSQ_gnomADg_AN=29256;CSQ_gnomADg_AF=0.26128;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:3UTR;CSQ_CADD_PHRED=15.24 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,16:119:0.13445:65:-100:0.1849:1,7,1,2,0,5,23,41,9,21,8,17:100:100 +11 128328959 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=ETS1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001143820.2;CSQ_HGVSc=NM_001143820.2:c.*3297G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128328959C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3674;CSQ_gnomADg_AN=30028;CSQ_gnomADg_AF=0.122352;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:3UTR;CSQ_CADD_PHRED=16.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,31:118:0.26271:65:-100:0.169:4,17,2,6,0,2,17,40,7,30,6,18:100:100 +11 128328959 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=ETS1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001162422.2;CSQ_HGVSc=NM_001162422.2:c.*3297G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128328959C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3674;CSQ_gnomADg_AN=30028;CSQ_gnomADg_AF=0.122352;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:3UTR;CSQ_CADD_PHRED=16.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,31:118:0.26271:65:-100:0.169:4,17,2,6,0,2,17,40,7,30,6,18:100:100 +11 128330520 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=ETS1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001143820.2;CSQ_HGVSc=NM_001143820.2:c.*1736A>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128330520T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1276850;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=14528;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.470344;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:3UTR;CSQ_CADD_PHRED=11.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,72:156:0.46154:65:-100:0.0877:10,27,4,13,5,13,26,55,16,21,14,24:100:100 +11 128330520 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=ETS1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001162422.2;CSQ_HGVSc=NM_001162422.2:c.*1736A>G;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128330520T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1276850;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=14528;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.470344;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:3UTR;CSQ_CADD_PHRED=11.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,72:156:0.46154:65:-100:0.0877:10,27,4,13,5,13,26,55,16,21,14,24:100:100 +11 128331450 . C T 100 PASS DP=179;CSQ_Allele=T;CSQ_SYMBOL=ETS1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001143820.2;CSQ_HGVSc=NM_001143820.2:c.*806G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128331450C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1094;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0353565;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,11:179:0.06145:65:-100:0.0914:1,5,2,1,0,2,29,69,24,25,14,18:100:100 +11 128331450 . C T 100 PASS DP=179;CSQ_Allele=T;CSQ_SYMBOL=ETS1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001162422.2;CSQ_HGVSc=NM_001162422.2:c.*806G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128331450C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1094;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0353565;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,11:179:0.06145:65:-100:0.0914:1,5,2,1,0,2,29,69,24,25,14,18:100:100 +11 128333503 . T C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=ETS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_001143820.2;CSQ_HGVSc=NM_001143820.2:c.1143A>G;CSQ_HGVSp=NP_001137292.1:p.Leu381%3D;CSQ_HGVSg=11:g.128333503T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15324;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.495922;CSQ_gnomADe_AC=113386;CSQ_gnomADe_AN=246102;CSQ_gnomADe_AF=0.460728;CSQ_gnomADe_Hom=26909;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:L121L&ETS1:L250L&ETS1:L337L&ETS1:L381L;CSQ_CADD_PHRED=14.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,113:181:0.62431:65:-100:0.134:16,38,13,16,12,18,32,62,18,30,16,23:100:100 +11 128333503 . T C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=ETS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_001162422.2;CSQ_HGVSc=NM_001162422.2:c.363A>G;CSQ_HGVSp=NP_001155894.1:p.Leu121%3D;CSQ_HGVSg=11:g.128333503T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15324;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.495922;CSQ_gnomADe_AC=113386;CSQ_gnomADe_AN=246102;CSQ_gnomADe_AF=0.460728;CSQ_gnomADe_Hom=26909;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:L121L&ETS1:L250L&ETS1:L337L&ETS1:L381L;CSQ_CADD_PHRED=14.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,113:181:0.62431:65:-100:0.134:16,38,13,16,12,18,32,62,18,30,16,23:100:100 +11 128333510 . A T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=ETS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_001143820.2;CSQ_HGVSc=NM_001143820.2:c.1136T>A;CSQ_HGVSp=NP_001137292.1:p.Ile379Asn;CSQ_HGVSg=11:g.128333510A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.685;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:172,8:180:0.04444:65:-100:0.1262:1,3,1,2,1,0,32,59,18,34,13,24:90.341:100 +11 128333510 . A T 100 PASS DP=180;CSQ_Allele=T;CSQ_SYMBOL=ETS1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_001162422.2;CSQ_HGVSc=NM_001162422.2:c.356T>A;CSQ_HGVSp=NP_001155894.1:p.Ile119Asn;CSQ_HGVSg=11:g.128333510A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.685;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:172,8:180:0.04444:65:-100:0.1262:1,3,1,2,1,0,32,59,18,34,13,24:90.341:100 +11 128350261 . T C 100 PASS DP=191;CSQ_Allele=C;CSQ_SYMBOL=ETS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_001143820.2;CSQ_HGVSc=NM_001143820.2:c.948A>G;CSQ_HGVSp=NP_001137292.1:p.Ser316%3D;CSQ_HGVSg=11:g.128350261T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=577;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.0186913;CSQ_gnomADe_AC=2300;CSQ_gnomADe_AN=245868;CSQ_gnomADe_AF=0.00935461;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.068 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,15:191:0.07853:65:-100:0.1732:2,3,3,4,1,2,29,60,18,26,15,43:100:100 +11 128350261 . T C 100 PASS DP=191;CSQ_Allele=C;CSQ_SYMBOL=ETS1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_001162422.2;CSQ_HGVSc=NM_001162422.2:c.168A>G;CSQ_HGVSp=NP_001155894.1:p.Ser56%3D;CSQ_HGVSg=11:g.128350261T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=577;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.0186913;CSQ_gnomADe_AC=2300;CSQ_gnomADe_AN=245868;CSQ_gnomADe_AF=0.00935461;CSQ_gnomADe_Hom=21;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.068 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,15:191:0.07853:65:-100:0.1732:2,3,3,4,1,2,29,60,18,26,15,43:100:100 +11 128391937 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=ETS1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_001143820.2;CSQ_HGVSc=NM_001143820.2:c.215-31466G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128391937C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4828;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.156276;CSQ_gnomADe_AC=34172;CSQ_gnomADe_AN=194964;CSQ_gnomADe_AF=0.175273;CSQ_gnomADe_Hom=3474;CSQ_COSMICcMuts=COSV60092503&COSV60092503&COSV60092503&COSV60092503&COSV60092503&COSV60092503;CSQ_COSMICncMuts=COSV60092503;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETS1:5UTR&ETS1:D72int&ETS1:D72inta;CSQ_CADD_PHRED=15.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,9:163:0.05521:65:-96.1084:0.197:2,5,0,1,0,1,25,55,18,26,8,31:78.339:100 +11 128391937 . C T 100 PASS DP=163;CSQ_Allele=T;CSQ_SYMBOL=ETS1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/4;CSQ_INTRON=.;CSQ_Feature=NM_001162422.2;CSQ_HGVSc=NM_001162422.2:c.-48G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128391937C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4828;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.156276;CSQ_gnomADe_AC=34172;CSQ_gnomADe_AN=194964;CSQ_gnomADe_AF=0.175273;CSQ_gnomADe_Hom=3474;CSQ_COSMICcMuts=COSV60092503&COSV60092503&COSV60092503&COSV60092503&COSV60092503&COSV60092503;CSQ_COSMICncMuts=COSV60092503;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,9:163:0.05521:65:-96.1084:0.197:2,5,0,1,0,1,25,55,18,26,8,31:78.339:100 +11 128563909 . G A 100 PASS DP=229;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001167681.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128563909G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:213,16:229:0.06987:65:-100:0.3265:3,7,0,1,2,3,41,73,21,28,24,42:100:100 +11 128563909 . G A 100 PASS DP=229;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001271010.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128563909G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:213,16:229:0.06987:65:-100:0.3265:3,7,0,1,2,3,41,73,21,28,24,42:100:100 +11 128563909 . G A 100 PASS DP=229;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001271012.2;CSQ_HGVSc=NM_001271012.2:c.-203+7313G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128563909G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:213,16:229:0.06987:65:-100:0.3265:3,7,0,1,2,3,41,73,21,28,24,42:100:100 +11 128563909 . G A 100 PASS DP=229;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002017.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128563909G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:213,16:229:0.06987:65:-100:0.3265:3,7,0,1,2,3,41,73,21,28,24,42:100:100 +11 128634609 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_001167681.3;CSQ_HGVSc=NM_001167681.3:c.132-3404G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128634609G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=6.45703e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=157848;CSQ_gnomADe_AF=2.53408e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.881 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-93.8296:0.125:0,2,0,3,1,1,29,41,13,32,16,23:79.21:100 +11 128634609 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001271010.2;CSQ_HGVSc=NM_001271010.2:c.-76G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128634609G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=6.45703e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=157848;CSQ_gnomADe_AF=2.53408e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.881 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-93.8296:0.125:0,2,0,3,1,1,29,41,13,32,16,23:79.21:100 +11 128634609 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/6;CSQ_Feature=NM_001271012.2;CSQ_HGVSc=NM_001271012.2:c.10+6388G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128634609G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=6.45703e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=157848;CSQ_gnomADe_AF=2.53408e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.881 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-93.8296:0.125:0,2,0,3,1,1,29,41,13,32,16,23:79.21:100 +11 128634609 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/8;CSQ_Feature=NM_002017.5;CSQ_HGVSc=NM_002017.5:c.231-3404G>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128634609G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=6.45703e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=157848;CSQ_gnomADe_AF=2.53408e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.881 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,7:154:0.04545:65:-93.8296:0.125:0,2,0,3,1,1,29,41,13,32,16,23:79.21:100 +11 128651893 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=FLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001167681.3;CSQ_HGVSc=NM_001167681.3:c.531A>G;CSQ_HGVSp=NP_001161153.1:p.Gln177%3D;CSQ_HGVSg=11:g.128651893A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1275393;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6008;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.194308;CSQ_gnomADe_AC=31800;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.12916;CSQ_gnomADe_Hom=3032;CSQ_COSMICcMuts=COSV55644625&COSV55644625&COSV55644625&COSV55644625&COSV55644625;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:Q144Q&FLI1:Q177Q&FLI1:Q17Q&FLI1:Q210Q;CSQ_CADD_PHRED=8.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,36:158:0.22785:65:-100:0.1505:6,14,3,6,3,4,30,48,19,25,12,24:100:100 +11 128651893 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=FLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001271010.2;CSQ_HGVSc=NM_001271010.2:c.432A>G;CSQ_HGVSp=NP_001257939.1:p.Gln144%3D;CSQ_HGVSg=11:g.128651893A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1275393;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6008;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.194308;CSQ_gnomADe_AC=31800;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.12916;CSQ_gnomADe_Hom=3032;CSQ_COSMICcMuts=COSV55644625&COSV55644625&COSV55644625&COSV55644625&COSV55644625;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:Q144Q&FLI1:Q177Q&FLI1:Q17Q&FLI1:Q210Q;CSQ_CADD_PHRED=8.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,36:158:0.22785:65:-100:0.1505:6,14,3,6,3,4,30,48,19,25,12,24:100:100 +11 128651893 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=FLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/7;CSQ_INTRON=.;CSQ_Feature=NM_001271012.2;CSQ_HGVSc=NM_001271012.2:c.51A>G;CSQ_HGVSp=NP_001257941.1:p.Gln17%3D;CSQ_HGVSg=11:g.128651893A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1275393;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6008;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.194308;CSQ_gnomADe_AC=31800;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.12916;CSQ_gnomADe_Hom=3032;CSQ_COSMICcMuts=COSV55644625&COSV55644625&COSV55644625&COSV55644625&COSV55644625;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:Q144Q&FLI1:Q177Q&FLI1:Q17Q&FLI1:Q210Q;CSQ_CADD_PHRED=8.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,36:158:0.22785:65:-100:0.1505:6,14,3,6,3,4,30,48,19,25,12,24:100:100 +11 128651893 . A G 100 PASS DP=158;CSQ_Allele=G;CSQ_SYMBOL=FLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/9;CSQ_INTRON=.;CSQ_Feature=NM_002017.5;CSQ_HGVSc=NM_002017.5:c.630A>G;CSQ_HGVSp=NP_002008.2:p.Gln210%3D;CSQ_HGVSg=11:g.128651893A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1275393;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6008;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.194308;CSQ_gnomADe_AC=31800;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.12916;CSQ_gnomADe_Hom=3032;CSQ_COSMICcMuts=COSV55644625&COSV55644625&COSV55644625&COSV55644625&COSV55644625;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:Q144Q&FLI1:Q177Q&FLI1:Q17Q&FLI1:Q210Q;CSQ_CADD_PHRED=8.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,36:158:0.22785:65:-100:0.1505:6,14,3,6,3,4,30,48,19,25,12,24:100:100 +11 128680466 . C G 100 PASS DP=182;CSQ_Allele=G;CSQ_SYMBOL=FLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001167681.3;CSQ_HGVSc=NM_001167681.3:c.843C>G;CSQ_HGVSp=NP_001161153.1:p.Pro281%3D;CSQ_HGVSg=11:g.128680466C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1238677;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=736;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0237711;CSQ_gnomADe_AC=5627;CSQ_gnomADe_AN=244244;CSQ_gnomADe_AF=0.0230384;CSQ_gnomADe_Hom=97;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:P121P&FLI1:P248P&FLI1:P281P&FLI1:P314P;CSQ_CADD_PHRED=10.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:172,10:182:0.05495:65:-100:0.1333:2,6,1,1,0,0,27,61,16,35,11,32:100:100 +11 128680466 . C G 100 PASS DP=182;CSQ_Allele=G;CSQ_SYMBOL=FLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001271010.2;CSQ_HGVSc=NM_001271010.2:c.744C>G;CSQ_HGVSp=NP_001257939.1:p.Pro248%3D;CSQ_HGVSg=11:g.128680466C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1238677;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=736;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0237711;CSQ_gnomADe_AC=5627;CSQ_gnomADe_AN=244244;CSQ_gnomADe_AF=0.0230384;CSQ_gnomADe_Hom=97;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:P121P&FLI1:P248P&FLI1:P281P&FLI1:P314P;CSQ_CADD_PHRED=10.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:172,10:182:0.05495:65:-100:0.1333:2,6,1,1,0,0,27,61,16,35,11,32:100:100 +11 128680466 . C G 100 PASS DP=182;CSQ_Allele=G;CSQ_SYMBOL=FLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001271012.2;CSQ_HGVSc=NM_001271012.2:c.363C>G;CSQ_HGVSp=NP_001257941.1:p.Pro121%3D;CSQ_HGVSg=11:g.128680466C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1238677;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=736;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0237711;CSQ_gnomADe_AC=5627;CSQ_gnomADe_AN=244244;CSQ_gnomADe_AF=0.0230384;CSQ_gnomADe_Hom=97;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:P121P&FLI1:P248P&FLI1:P281P&FLI1:P314P;CSQ_CADD_PHRED=10.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:172,10:182:0.05495:65:-100:0.1333:2,6,1,1,0,0,27,61,16,35,11,32:100:100 +11 128680466 . C G 100 PASS DP=182;CSQ_Allele=G;CSQ_SYMBOL=FLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_002017.5;CSQ_HGVSc=NM_002017.5:c.942C>G;CSQ_HGVSp=NP_002008.2:p.Pro314%3D;CSQ_HGVSg=11:g.128680466C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1238677;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=736;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0237711;CSQ_gnomADe_AC=5627;CSQ_gnomADe_AN=244244;CSQ_gnomADe_AF=0.0230384;CSQ_gnomADe_Hom=97;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:P121P&FLI1:P248P&FLI1:P281P&FLI1:P314P;CSQ_CADD_PHRED=10.75 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:172,10:182:0.05495:65:-100:0.1333:2,6,1,1,0,0,27,61,16,35,11,32:100:100 +11 128681233 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001167681.3;CSQ_HGVSc=NM_001167681.3:c.*350T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128681233T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=215;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00694131;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,6:153:0.03922:65:-94.9486:0.1105:2,1,0,1,0,2,26,47,16,23,17,24:64.59:100 +11 128681233 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001271010.2;CSQ_HGVSc=NM_001271010.2:c.*350T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128681233T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=215;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00694131;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,6:153:0.03922:65:-94.9486:0.1105:2,1,0,1,0,2,26,47,16,23,17,24:64.59:100 +11 128681233 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001271012.2;CSQ_HGVSc=NM_001271012.2:c.*350T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128681233T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=215;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00694131;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,6:153:0.03922:65:-94.9486:0.1105:2,1,0,1,0,2,26,47,16,23,17,24:64.59:100 +11 128681233 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_002017.5;CSQ_HGVSc=NM_002017.5:c.*350T>C;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128681233T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=215;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00694131;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,6:153:0.03922:65:-94.9486:0.1105:2,1,0,1,0,2,26,47,16,23,17,24:64.59:100 +11 128681601 . T A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001167681.3;CSQ_HGVSc=NM_001167681.3:c.*718T>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128681601T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.000130191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55644155&COSV55644155&COSV55644155&COSV55644155;CSQ_COSMICncMuts=COSV55644155;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.041 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-100:0.1491:1,4,0,3,1,4,11,44,10,26,20,26:98.178:100 +11 128681601 . T A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001271010.2;CSQ_HGVSc=NM_001271010.2:c.*718T>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128681601T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.000130191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55644155&COSV55644155&COSV55644155&COSV55644155;CSQ_COSMICncMuts=COSV55644155;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.041 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-100:0.1491:1,4,0,3,1,4,11,44,10,26,20,26:98.178:100 +11 128681601 . T A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001271012.2;CSQ_HGVSc=NM_001271012.2:c.*718T>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128681601T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.000130191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55644155&COSV55644155&COSV55644155&COSV55644155;CSQ_COSMICncMuts=COSV55644155;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.041 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-100:0.1491:1,4,0,3,1,4,11,44,10,26,20,26:98.178:100 +11 128681601 . T A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_002017.5;CSQ_HGVSc=NM_002017.5:c.*718T>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128681601T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.000130191;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55644155&COSV55644155&COSV55644155&COSV55644155;CSQ_COSMICncMuts=COSV55644155;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.041 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,13:137:0.09489:65:-100:0.1491:1,4,0,3,1,4,11,44,10,26,20,26:98.178:100 +11 128682460 . C A 100 PASS DP=175;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001167681.3;CSQ_HGVSc=NM_001167681.3:c.*1577C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128682460C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8119;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.262853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:3UTR;CSQ_CADD_PHRED=3.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,34:175:0.19429:65:-100:0.1294:8,16,0,3,4,3,38,64,12,27,12,22:100:100 +11 128682460 . C A 100 PASS DP=175;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001271010.2;CSQ_HGVSc=NM_001271010.2:c.*1577C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128682460C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8119;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.262853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:3UTR;CSQ_CADD_PHRED=3.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,34:175:0.19429:65:-100:0.1294:8,16,0,3,4,3,38,64,12,27,12,22:100:100 +11 128682460 . C A 100 PASS DP=175;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001271012.2;CSQ_HGVSc=NM_001271012.2:c.*1577C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128682460C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8119;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.262853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:3UTR;CSQ_CADD_PHRED=3.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,34:175:0.19429:65:-100:0.1294:8,16,0,3,4,3,38,64,12,27,12,22:100:100 +11 128682460 . C A 100 PASS DP=175;CSQ_Allele=A;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_002017.5;CSQ_HGVSc=NM_002017.5:c.*1577C>A;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128682460C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8119;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.262853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:3UTR;CSQ_CADD_PHRED=3.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,34:175:0.19429:65:-100:0.1294:8,16,0,3,4,3,38,64,12,27,12,22:100:100 +11 128682606 . G T 100 PASS DP=190;CSQ_Allele=T;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001167681.3;CSQ_HGVSc=NM_001167681.3:c.*1723G>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128682606G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8120;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.262647;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:3UTR;CSQ_CADD_PHRED=2.132 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,34:190:0.17895:65:-100:0.1204:10,9,7,2,2,4,36,61,28,34,9,22:100:100 +11 128682606 . G T 100 PASS DP=190;CSQ_Allele=T;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001271010.2;CSQ_HGVSc=NM_001271010.2:c.*1723G>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128682606G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8120;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.262647;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:3UTR;CSQ_CADD_PHRED=2.132 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,34:190:0.17895:65:-100:0.1204:10,9,7,2,2,4,36,61,28,34,9,22:100:100 +11 128682606 . G T 100 PASS DP=190;CSQ_Allele=T;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001271012.2;CSQ_HGVSc=NM_001271012.2:c.*1723G>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128682606G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8120;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.262647;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:3UTR;CSQ_CADD_PHRED=2.132 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,34:190:0.17895:65:-100:0.1204:10,9,7,2,2,4,36,61,28,34,9,22:100:100 +11 128682606 . G T 100 PASS DP=190;CSQ_Allele=T;CSQ_SYMBOL=FLI1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_002017.5;CSQ_HGVSc=NM_002017.5:c.*1723G>T;CSQ_HGVSp=.;CSQ_HGVSg=11:g.128682606G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8120;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.262647;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLI1:3UTR;CSQ_CADD_PHRED=2.132 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,34:190:0.17895:65:-100:0.1204:10,9,7,2,2,4,36,61,28,34,9,22:100:100 +12 406292 . G A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=KDM5A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/28;CSQ_INTRON=.;CSQ_Feature=NM_001042603.3;CSQ_HGVSc=NM_001042603.3:c.4149C>T;CSQ_HGVSp=NP_001036068.1:p.Ser1383%3D;CSQ_HGVSg=12:g.406292G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9356;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.302881;CSQ_gnomADe_AC=76387;CSQ_gnomADe_AN=245300;CSQ_gnomADe_AF=0.311402;CSQ_gnomADe_Hom=12645;CSQ_COSMICcMuts=COSV66993162&COSV66993162;CSQ_COSMICncMuts=COSV66993162;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KDM5A:S1383S;CSQ_CADD_PHRED=8.909 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,51:114:0.44737:65:-100:0.1493:7,28,2,6,1,7,17,55,6,14,5,17:100:100 +12 427575 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=KDM5A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/28;CSQ_INTRON=.;CSQ_Feature=NM_001042603.3;CSQ_HGVSc=NM_001042603.3:c.2594T>C;CSQ_HGVSp=NP_001036068.1:p.Met865Thr;CSQ_HGVSg=12:g.427575A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1255235;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9367;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.302982;CSQ_gnomADe_AC=76141;CSQ_gnomADe_AN=243906;CSQ_gnomADe_AF=0.312174;CSQ_gnomADe_Hom=12672;CSQ_COSMICcMuts=COSV66991468&COSV66991468;CSQ_COSMICncMuts=COSV66991468;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=0.054;CSQ_Mastermind_MMID3=KDM5A:M865T;CSQ_CADD_PHRED=18.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,50:126:0.39683:65:-100:0.16:12,9,5,11,3,10,24,31,14,25,10,22:100:100 +12 4388084 . C G 100 PASS DP=124;CSQ_Allele=G;CSQ_SYMBOL=CCND2;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/5;CSQ_INTRON=.;CSQ_Feature=NM_001759.4;CSQ_HGVSc=NM_001759.4:c.570C>G;CSQ_HGVSp=NP_001750.1:p.Thr190%3D;CSQ_HGVSg=12:g.4388084C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=380772;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_3¬_specified¬_provided;CSQ_gnomADg_AC=9740;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.314823;CSQ_gnomADe_AC=78313;CSQ_gnomADe_AN=241716;CSQ_gnomADe_AF=0.323988;CSQ_gnomADe_Hom=13786;CSQ_COSMICcMuts=COSV54221448;CSQ_COSMICncMuts=COSV54221448&COSV54221448;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CCND2:D191srd&CCND2:T190T;CSQ_CADD_PHRED=8.543 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,20:124:0.16129:65:-100:0.1329:3,6,1,3,2,5,22,29,14,19,12,28:100:100 +12 4398021 . C T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=CCND2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/5;CSQ_INTRON=.;CSQ_Feature=NM_001759.4;CSQ_HGVSc=NM_001759.4:c.585C>T;CSQ_HGVSp=NP_001750.1:p.Ala195%3D;CSQ_HGVSg=12:g.4398021C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54221976;CSQ_COSMICncMuts=COSV54221976;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,9:125:0.072:65:-100:0.1259:0,5,1,1,1,1,20,48,11,21,5,20:100:100 +12 4479549 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=FGF23;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_020638.3;CSQ_HGVSc=NM_020638.3:c.716C>T;CSQ_HGVSp=NP_065689.1:p.Thr239Met;CSQ_HGVSg=12:g.4479549G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=308803;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_dominant_hypophosphatemic_rickets&Tumoral_calcinosis&_hyperphosphatemic&_familial&_2¬_specified¬_provided;CSQ_gnomADg_AC=3522;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.114262;CSQ_gnomADe_AC=31526;CSQ_gnomADe_AN=245656;CSQ_gnomADe_AF=0.128334;CSQ_gnomADe_Hom=2340;CSQ_COSMICcMuts=COSV52976898;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=0.189;CSQ_Mastermind_MMID3=FGF23:T239M;CSQ_CADD_PHRED=0.098 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,13:125:0.104:65:-100:0.1497:3,4,0,4,1,1,24,45,9,24,14,9:100:100 +12 4482973 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=FGF23;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_020638.3;CSQ_HGVSc=NM_020638.3:c.212-1110A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.4482973T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29307;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.946914;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF23:S71int&FGF23:S71inta;CSQ_CADD_PHRED=4.916 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,122:140:0.87143:65:-100:0.1139:12,37,15,27,7,24,12,46,16,29,8,29:100:100 +12 4484459 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=FGF23;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_020638.3;CSQ_HGVSc=NM_020638.3:c.212-2596G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.4484459C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3634;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.117468;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF23:S71int&FGF23:S71inta;CSQ_CADD_PHRED=2.646 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,22:164:0.13415:65:-100:0.1368:4,9,0,4,1,4,17,59,15,38,9,26:100:100 +12 4489235 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=FGF23;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_020638.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=12:g.4489235T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1181562;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4091;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.132207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.081 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,26:156:0.16667:65:-100:0.1034:7,10,1,3,1,4,21,65,10,26,14,20:100:100 +12 4539870 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=FGF6;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_020996.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=12:g.4539870G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7502;CSQ_gnomADg_AN=30750;CSQ_gnomADg_AF=0.243967;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.367 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,42:154:0.27273:65:-100:0.2143:11,7,8,6,4,6,25,38,17,26,14,34:100:100 +12 4543765 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=FGF6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_020996.3;CSQ_HGVSc=NM_020996.3:c.451-208G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.4543765C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.352 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,9:133:0.06767:65:-100:0.1582:2,4,0,0,1,2,20,53,11,16,11,22:100:100 +12 4549241 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=FGF6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_020996.3;CSQ_HGVSc=NM_020996.3:c.450+4058G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.4549241C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=750;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0242139;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,15:119:0.12605:65:-100:0.1678:5,3,2,1,1,3,26,43,8,16,7,19:100:100 +12 4549255 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=FGF6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_020996.3;CSQ_HGVSc=NM_020996.3:c.450+4044C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.4549255G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17264;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.5582;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF6:T150int&FGF6:T150intd;CSQ_CADD_PHRED=12.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,84:128:0.65625:65:-100:0.1467:11,37,8,10,3,15,19,52,10,19,5,23:100:100 +12 4553332 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=FGF6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_020996.3;CSQ_HGVSc=NM_020996.3:c.417T>C;CSQ_HGVSp=NP_066276.2:p.Val139%3D;CSQ_HGVSg=12:g.4553332A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13471;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.436209;CSQ_gnomADe_AC=101877;CSQ_gnomADe_AN=245302;CSQ_gnomADe_AF=0.415313;CSQ_gnomADe_Hom=21815;CSQ_COSMICcMuts=COSV57404169;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF6:V139V;CSQ_CADD_PHRED=6.364 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,53:160:0.33125:65:-100:0.1623:6,20,5,9,2,11,20,64,10,28,6,32:100:100 +12 4553383 . A G 100 PASS DP=166;CSQ_Allele=G;CSQ_SYMBOL=FGF6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_020996.3;CSQ_HGVSc=NM_020996.3:c.366T>C;CSQ_HGVSp=NP_066276.2:p.Thr122%3D;CSQ_HGVSg=12:g.4553383A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13668;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.443047;CSQ_gnomADe_AC=102026;CSQ_gnomADe_AN=245022;CSQ_gnomADe_AF=0.416395;CSQ_gnomADe_Hom=21910;CSQ_COSMICcMuts=COSV57404109;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF6:T122T;CSQ_CADD_PHRED=0.349 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,61:166:0.36747:65:-100:0.1531:8,19,5,12,5,12,21,59,16,19,14,37:100:100 +12 4554413 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=FGF6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_020996.3;CSQ_HGVSc=NM_020996.3:c.324G>A;CSQ_HGVSp=NP_066276.2:p.Gly108%3D;CSQ_HGVSg=12:g.4554413C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5726;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.185176;CSQ_gnomADe_AC=36706;CSQ_gnomADe_AN=240108;CSQ_gnomADe_AF=0.152873;CSQ_gnomADe_Hom=3156;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF6:G108G;CSQ_CADD_PHRED=7.801 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,29:135:0.21481:65:-100:0.1667:5,8,0,7,5,4,28,49,9,20,14,15:100:100 +12 4554548 . G C 100 PASS DP=172;CSQ_Allele=C;CSQ_SYMBOL=FGF6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_020996.3;CSQ_HGVSc=NM_020996.3:c.189C>G;CSQ_HGVSp=NP_066276.2:p.Ala63%3D;CSQ_HGVSg=12:g.4554548G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28395;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.917744;CSQ_gnomADe_AC=240554;CSQ_gnomADe_AN=245992;CSQ_gnomADe_AF=0.977894;CSQ_gnomADe_Hom=118280;CSQ_COSMICcMuts=COSV57404741;CSQ_COSMICncMuts=COSV57404741;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF6:A63A;CSQ_CADD_PHRED=0.185 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:16,156:172:0.90698:65:-100:0.0851:19,50,9,39,17,22,22,53,12,44,17,24:100:100 +12 4554630 . A G 100 PASS DP=171;CSQ_Allele=G;CSQ_SYMBOL=FGF6;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_020996.3;CSQ_HGVSc=NM_020996.3:c.107T>C;CSQ_HGVSp=NP_066276.2:p.Val36Ala;CSQ_HGVSg=12:g.4554630A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4278;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.138375;CSQ_gnomADe_AC=34391;CSQ_gnomADe_AN=245318;CSQ_gnomADe_AF=0.140189;CSQ_gnomADe_Hom=2697;CSQ_COSMICcMuts=COSV57403813;CSQ_COSMICncMuts=COSV57403813;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.034;CSQ_Mastermind_MMID3=FGF6:V36A;CSQ_CADD_PHRED=16.17 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,22:171:0.12866:65:-100:0.114:1,10,1,8,0,2,17,66,7,39,17,25:100:100 +12 4557597 . C A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=FGF6;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_020996.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=12:g.4557597C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8337;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.269771;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.159 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,49:177:0.27684:65:-100:0.1061:5,16,5,13,4,6,23,61,15,34,16,28:100:100 +12 6690909 . C T 100 PASS DP=166;CSQ_Allele=T;CSQ_SYMBOL=CHD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/40;CSQ_INTRON=.;CSQ_Feature=NM_001273.5;CSQ_HGVSc=NM_001273.5:c.4587G>A;CSQ_HGVSp=NP_001264.2:p.Lys1529%3D;CSQ_HGVSg=12:g.6690909C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1574857;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=508;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0164221;CSQ_gnomADe_AC=5924;CSQ_gnomADe_AN=233556;CSQ_gnomADe_AF=0.0253644;CSQ_gnomADe_Hom=130;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD4:K1516K&CHD4:K1522K&CHD4:K1529K;CSQ_CADD_PHRED=10.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,13:166:0.07831:65:-100:0.1399:0,7,0,3,1,2,24,63,13,21,15,30:100:100 +12 6690909 . C T 100 PASS DP=166;CSQ_Allele=T;CSQ_SYMBOL=CHD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=30/39;CSQ_INTRON=.;CSQ_Feature=NM_001297553.2;CSQ_HGVSc=NM_001297553.2:c.4566G>A;CSQ_HGVSp=NP_001284482.1:p.Lys1522%3D;CSQ_HGVSg=12:g.6690909C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1574857;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=508;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0164221;CSQ_gnomADe_AC=5924;CSQ_gnomADe_AN=233556;CSQ_gnomADe_AF=0.0253644;CSQ_gnomADe_Hom=130;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD4:K1516K&CHD4:K1522K&CHD4:K1529K;CSQ_CADD_PHRED=10.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,13:166:0.07831:65:-100:0.1399:0,7,0,3,1,2,24,63,13,21,15,30:100:100 +12 6697097 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=CHD4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/40;CSQ_INTRON=.;CSQ_Feature=NM_001273.5;CSQ_HGVSc=NM_001273.5:c.3484C>T;CSQ_HGVSp=NP_001264.2:p.Arg1162Trp;CSQ_HGVSg=12:g.6697097G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58894467&COSV58894467&COSV58894467&COSV58894467;CSQ_COSMICncMuts=COSV58894467&COSV58894467&COSV58894467&COSV58894467;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.935;CSQ_Mastermind_MMID3=CHD4:R1162W;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,7:143:0.04895:65:-100:0.1437:2,2,2,0,0,1,28,44,13,23,8,27:70.289:100 +12 6697097 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=CHD4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/39;CSQ_INTRON=.;CSQ_Feature=NM_001297553.2;CSQ_HGVSc=NM_001297553.2:c.3463C>T;CSQ_HGVSp=NP_001284482.1:p.Arg1155Trp;CSQ_HGVSg=12:g.6697097G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58894467&COSV58894467&COSV58894467&COSV58894467;CSQ_COSMICncMuts=COSV58894467&COSV58894467&COSV58894467&COSV58894467;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.935;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,7:143:0.04895:65:-100:0.1437:2,2,2,0,0,1,28,44,13,23,8,27:70.289:100 +12 6707526 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=CHD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/40;CSQ_INTRON=.;CSQ_Feature=NM_001273.5;CSQ_HGVSc=NM_001273.5:c.1548C>T;CSQ_HGVSp=NP_001264.2:p.Pro516%3D;CSQ_HGVSg=12:g.6707526G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1209740;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sifrim-Hitz-Weiss_syndrome¬_provided;CSQ_gnomADg_AC=4410;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.142534;CSQ_gnomADe_AC=30986;CSQ_gnomADe_AN=245760;CSQ_gnomADe_AF=0.126082;CSQ_gnomADe_Hom=2171;CSQ_COSMICcMuts=COSV58906934&COSV58906934&COSV58906934&COSV58906934;CSQ_COSMICncMuts=COSV58906934&COSV58906934&COSV58906934&COSV58906934&COSV58906934;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD4:P503P&CHD4:P509P&CHD4:P516P;CSQ_CADD_PHRED=11.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,47:171:0.27485:65:-100:0.1186:7,17,2,11,3,7,21,52,11,38,14,35:100:100 +12 6707526 . G A 100 PASS DP=171;CSQ_Allele=A;CSQ_SYMBOL=CHD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/39;CSQ_INTRON=.;CSQ_Feature=NM_001297553.2;CSQ_HGVSc=NM_001297553.2:c.1527C>T;CSQ_HGVSp=NP_001284482.1:p.Pro509%3D;CSQ_HGVSg=12:g.6707526G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1209740;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sifrim-Hitz-Weiss_syndrome¬_provided;CSQ_gnomADg_AC=4410;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.142534;CSQ_gnomADe_AC=30986;CSQ_gnomADe_AN=245760;CSQ_gnomADe_AF=0.126082;CSQ_gnomADe_Hom=2171;CSQ_COSMICcMuts=COSV58906934&COSV58906934&COSV58906934&COSV58906934;CSQ_COSMICncMuts=COSV58906934&COSV58906934&COSV58906934&COSV58906934&COSV58906934;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD4:P503P&CHD4:P509P&CHD4:P516P;CSQ_CADD_PHRED=11.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,47:171:0.27485:65:-100:0.1186:7,17,2,11,3,7,21,52,11,38,14,35:100:100 +12 6709059 . G A 100 PASS DP=178;CSQ_Allele=A;CSQ_SYMBOL=CHD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/40;CSQ_INTRON=.;CSQ_Feature=NM_001273.5;CSQ_HGVSc=NM_001273.5:c.1362C>T;CSQ_HGVSp=NP_001264.2:p.Val454%3D;CSQ_HGVSg=12:g.6709059G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1209823;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sifrim-Hitz-Weiss_syndrome¬_provided;CSQ_gnomADg_AC=4418;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.142913;CSQ_gnomADe_AC=31076;CSQ_gnomADe_AN=246268;CSQ_gnomADe_AF=0.126188;CSQ_gnomADe_Hom=2179;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD4:V441V&CHD4:V447V&CHD4:V454V;CSQ_CADD_PHRED=11.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,31:178:0.17416:65:-100:0.1643:5,10,2,8,1,5,19,62,19,28,12,38:100:100 +12 6709059 . G A 100 PASS DP=178;CSQ_Allele=A;CSQ_SYMBOL=CHD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/39;CSQ_INTRON=.;CSQ_Feature=NM_001297553.2;CSQ_HGVSc=NM_001297553.2:c.1341C>T;CSQ_HGVSp=NP_001284482.1:p.Val447%3D;CSQ_HGVSg=12:g.6709059G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1209823;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sifrim-Hitz-Weiss_syndrome¬_provided;CSQ_gnomADg_AC=4418;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.142913;CSQ_gnomADe_AC=31076;CSQ_gnomADe_AN=246268;CSQ_gnomADe_AF=0.126188;CSQ_gnomADe_Hom=2179;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD4:V441V&CHD4:V447V&CHD4:V454V;CSQ_CADD_PHRED=11.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,31:178:0.17416:65:-100:0.1643:5,10,2,8,1,5,19,62,19,28,12,38:100:100 +12 6715484 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=CHD4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/40;CSQ_INTRON=.;CSQ_Feature=NM_001273.5;CSQ_HGVSc=NM_001273.5:c.56A>G;CSQ_HGVSp=NP_001264.2:p.Asp19Gly;CSQ_HGVSg=12:g.6715484T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=208826;CSQ_gnomADe_AF=4.78868e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58895822&COSV58895822&COSV58895822&COSV58895822;CSQ_COSMICncMuts=COSV58895822;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.56;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.197;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,10:162:0.06173:65:-100:0.1383:1,6,0,2,0,1,26,52,15,33,12,24:100:100 +12 6715484 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=CHD4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/39;CSQ_INTRON=.;CSQ_Feature=NM_001297553.2;CSQ_HGVSc=NM_001297553.2:c.56A>G;CSQ_HGVSp=NP_001284482.1:p.Asp19Gly;CSQ_HGVSg=12:g.6715484T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=208826;CSQ_gnomADe_AF=4.78868e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58895822&COSV58895822&COSV58895822&COSV58895822;CSQ_COSMICncMuts=COSV58895822;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.56;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=0.197;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,10:162:0.06173:65:-100:0.1383:1,6,0,2,0,1,26,52,15,33,12,24:100:100 +12 6715527 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=CHD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/40;CSQ_INTRON=.;CSQ_Feature=NM_001273.5;CSQ_HGVSc=NM_001273.5:c.13C>T;CSQ_HGVSp=NP_001264.2:p.Leu5%3D;CSQ_HGVSg=12:g.6715527G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1654477;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1164;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0376163;CSQ_gnomADe_AC=8670;CSQ_gnomADe_AN=204124;CSQ_gnomADe_AF=0.0424742;CSQ_gnomADe_Hom=472;CSQ_COSMICcMuts=COSV58894535&COSV58894535&COSV58894535&COSV58894535;CSQ_COSMICncMuts=COSV58894535;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD4:L5L;CSQ_CADD_PHRED=12.43 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,5:151:0.03311:65:-46.5491:0.1221:2,0,0,2,0,1,26,49,15,33,11,17:65.329:100 +12 6715527 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=CHD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/39;CSQ_INTRON=.;CSQ_Feature=NM_001297553.2;CSQ_HGVSc=NM_001297553.2:c.13C>T;CSQ_HGVSp=NP_001284482.1:p.Leu5%3D;CSQ_HGVSg=12:g.6715527G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1654477;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1164;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0376163;CSQ_gnomADe_AC=8670;CSQ_gnomADe_AN=204124;CSQ_gnomADe_AF=0.0424742;CSQ_gnomADe_Hom=472;CSQ_COSMICcMuts=COSV58894535&COSV58894535&COSV58894535&COSV58894535;CSQ_COSMICncMuts=COSV58894535;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD4:L5L;CSQ_CADD_PHRED=12.43 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,5:151:0.03311:65:-46.5491:0.1221:2,0,0,2,0,1,26,49,15,33,11,17:65.329:100 +12 12006544 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+49G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12006544G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1272735;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5557;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.179594;CSQ_gnomADe_AC=42416;CSQ_gnomADe_AN=237624;CSQ_gnomADe_AF=0.1785;CSQ_gnomADe_Hom=4614;CSQ_COSMICcMuts=COSV67148437;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=0.156 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,14:149:0.09396:65:-100:0.1437:1,7,0,2,1,3,26,53,13,24,12,21:100:100 +12 12007343 . G C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+848G>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12007343G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12439;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.402713;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.071 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,86:151:0.56954:65:-100:0.0736:13,33,3,19,1,17,25,59,8,23,8,28:100:100 +12 12007893 . C G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+1398C>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12007893C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15600;CSQ_gnomADg_AN=30718;CSQ_gnomADg_AF=0.507846;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.596 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,50:141:0.35461:65:-100:0.135:8,18,4,12,2,6,20,43,19,27,12,20:100:100 +12 12008864 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+2369G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12008864G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7665;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.24777;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=14.13 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,48:183:0.2623:65:-100:0.1368:4,13,9,11,5,6,16,69,21,38,13,26:100:100 +12 12009529 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+3034A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12009529A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8832;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.286196;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=5.457 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,38:156:0.24359:65:-100:0.1086:3,12,2,7,8,6,22,47,15,28,14,30:100:100 +12 12009741 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+3246A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12009741A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6059;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.196059;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=1.934 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,21:146:0.14384:65:-100:0.1412:2,8,1,5,2,3,21,44,16,24,12,29:100:100 +12 12009874 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+3379G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12009874G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7626;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.2467;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=0.293 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,44:169:0.26036:65:-100:0.1333:6,17,3,6,2,10,26,59,15,25,15,29:100:100 +12 12010056 . G A 100 PASS DP=161;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+3561G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12010056G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7635;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.24688;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=0.562 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,40:161:0.24845:65:-100:0.1744:11,9,5,5,5,5,29,52,16,21,19,24:100:100 +12 12010544 . G T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+4049G>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12010544G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7217;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.233409;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=2.089 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,52:160:0.325:65:-100:0.1011:7,23,5,6,1,10,28,55,12,28,9,28:100:100 +12 12010736 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+4241C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12010736C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21125;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.68348;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=6.132 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,123:141:0.87234:65:-100:0.1076:22,40,8,20,12,21,25,46,11,23,13,23:100:100 +12 12010944 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+4449C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12010944C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.000129166;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.230 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,14:144:0.09722:65:-100:0.1325:3,2,3,4,1,1,22,49,15,29,6,23:100:100 +12 12011520 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+5025G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12011520G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11412;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.370063;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.143 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,82:149:0.55034:65:-100:0.1676:10,28,5,19,8,12,21,52,14,29,12,21:100:100 +12 12011764 . TGAG T 100 PASS DP=144;CSQ_Allele=-;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+5273_463+5275del;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12011768_12011770del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=42;CSQ_gnomADg_AN=13384;CSQ_gnomADg_AF=0.00313808;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.787 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,71:144:0.49306:65:-100:0:17,25,4,10,2,13,27,61,7,26,4,20:100:100 +12 12011772 . A G 100 PASS DP=139;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+5277A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12011772A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=899;CSQ_gnomADg_AN=29924;CSQ_gnomADg_AF=0.0300428;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.977 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,77:139:0.55396:65:-100:0.1146:18,29,6,10,3,11,29,59,8,20,6,17:100:100 +12 12012053 . G C 100 PASS DP=33;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+5558G>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12012053G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.252 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,33:33:1:65:-100:0.5926:5,13,2,9,0,4,5,13,2,9,0,4:100:100 +12 12012106 . T C 100 PASS DP=9;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+5611T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12012106T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19134;CSQ_gnomADg_AN=21176;CSQ_gnomADg_AF=0.90357;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=1.608 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ ./.:0:0,9:9:1:65:-100:0.64:0,6,0,0,0,3,0,6,0,0,0,3:100:100 +12 12012681 . T C 100 PASS DP=193;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+6186T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12012681T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12392;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.401165;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.489 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,105:193:0.54404:65:-100:0.1147:12,34,8,21,9,21,22,69,10,33,18,41:100:100 +12 12012801 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+6306A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12012801A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30052;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.970045;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.216 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,157:157:1:65:-100:0.1421:25,53,7,30,14,28,25,53,7,30,14,28:100:100 +12 12013189 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+6694A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12013189A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12124;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.39254;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=5.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,83:156:0.53205:65:-100:0.1475:15,29,10,10,5,14,22,51,22,21,11,29:100:100 +12 12013292 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+6797G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12013292G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12056;CSQ_gnomADg_AN=30728;CSQ_gnomADg_AF=0.392346;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=0.175 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,76:153:0.49673:65:-100:0.1257:15,23,9,9,7,13,23,54,15,24,12,25:100:100 +12 12013572 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+7077G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12013572G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19848;CSQ_gnomADg_AN=30656;CSQ_gnomADg_AF=0.647443;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=1.181 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,129:148:0.87162:65:-100:0.1543:24,40,12,24,10,19,28,46,15,27,12,20:100:100 +12 12013612 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+7117G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12013612G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17624;CSQ_gnomADg_AN=30784;CSQ_gnomADg_AF=0.572505;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=0.084 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,78:155:0.50323:65:-100:0.1842:9,38,6,10,5,10,22,67,12,19,10,25:100:100 +12 12013626 . T TC 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+7138dup;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12013633dup;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8615;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.279835;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.779 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,18:145:0.12414:65:-100:0:1,14,1,2,0,0,22,62,11,14,11,23:100:100 +12 12013985 . C A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+7490C>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12013985C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13851;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.448107;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=0.860 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,93:157:0.59236:65:-100:0.1326:19,25,7,14,7,21,34,50,10,22,15,26:100:100 +12 12014424 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.463+7929G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12014424G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12104;CSQ_gnomADg_AN=30804;CSQ_gnomADg_AF=0.392936;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155intd;CSQ_CADD_PHRED=2.169 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:58,73:131:0.55725:65:-100:0.2012:9,21,8,14,6,15,18,44,12,25,12,20:100:100 +12 12015401 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-6957G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12015401G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13931;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.45128;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.470 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,98:165:0.59394:65:-100:0.1176:18,31,8,15,4,22,28,48,17,25,15,32:100:100 +12 12015706 . G T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-6652G>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12015706G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6428;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.20808;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=1.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,19:130:0.14615:65:-100:0.1096:1,9,2,2,1,4,20,42,13,21,13,21:100:100 +12 12015905 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-6453A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12015905A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7244;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.234267;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=4.654 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,39:161:0.24224:65:-100:0.0955:7,16,2,7,2,5,34,65,11,19,10,22:100:100 +12 12016008 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-6350G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12016008G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25769;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.833355;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=1.389 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,140:140:1:65:-100:0.1139:25,52,16,14,12,21,25,52,16,14,12,21:100:100 +12 12016045 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-6313C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12016045C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11675;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.377856;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=4.162 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,78:142:0.5493:65:-100:0.1125:9,29,5,12,6,17,22,53,9,19,12,27:100:100 +12 12016089 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-6269C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12016089C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1750;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0565392;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=3.908 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,17:150:0.11333:65:-100:0.1329:4,9,2,0,1,1,20,61,9,21,9,30:100:100 +12 12016183 . G T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-6175G>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12016183G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9590;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.310075;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=4.499 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,60:120:0.5:65:-100:0.1111:8,30,2,5,5,10,19,55,4,15,8,19:100:100 +12 12017285 . T C 100 PASS DP=166;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-5073T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12017285T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30832;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.99503;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.635 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,166:166:1:65:-100:0.1027:35,51,11,26,20,23,35,51,11,26,20,23:100:100 +12 12018042 . A G 100 PASS DP=9;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-4316A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12018042A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30675;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.995037;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.028 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ ./.:0:0,9:9:1:65:-65:0.5:1,5,0,0,2,1,1,5,0,0,2,1:100:100 +12 12019067 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-3291A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12019067A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2973;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.0962697;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=6.845 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,6:128:0.04688:65:-97.1625:0.1523:1,1,0,0,3,1,21,36,11,22,11,27:79.743:100 +12 12020114 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-2244C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12020114C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18684;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.60466;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=1.347 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,101:148:0.68243:65:-100:0.1294:24,32,2,20,11,12,33,43,6,28,15,23:100:100 +12 12020170 . C T 100 PASS DP=155;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-2188C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12020170C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14663;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.474285;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=2.289 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,101:155:0.65161:65:-100:0.1711:25,36,8,13,8,11,33,52,11,26,12,21:100:100 +12 12020451 . A C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-1907A>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12020451A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2796;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0903568;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=2.842 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,7:128:0.05469:65:-100:0.1111:0,6,0,1,0,0,20,44,12,21,10,21:89.369:100 +12 12021657 . T C 100 PASS DP=149;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-701T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12021657T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12552;CSQ_gnomADg_AN=30738;CSQ_gnomADg_AF=0.408354;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV6:D155int&ETV6:D155inta;CSQ_CADD_PHRED=3.749 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,88:149:0.5906:65:-100:0.1235:15,37,9,11,4,12,27,57,14,18,9,24:100:100 +12 12021746 . G C 100 PASS DP=164;CSQ_Allele=C;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-612G>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12021746G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.116 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,6:164:0.03659:65:-45.8093:0.1183:0,4,0,2,0,0,23,69,10,26,13,23:67.563:100 +12 12022098 . A T 100 PASS DP=32;CSQ_Allele=T;CSQ_SYMBOL=ETV6;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/7;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.464-260A>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.12022098A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1243723;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12383;CSQ_gnomADg_AN=30288;CSQ_gnomADg_AF=0.408842;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.663 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,24:32:0.75:65:-100:0.5077:0,11,1,7,0,5,0,14,1,11,0,6:100:100 +12 12022383 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ETV6;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/8;CSQ_INTRON=.;CSQ_Feature=NM_001987.5;CSQ_HGVSc=NM_001987.5:c.489G>A;CSQ_HGVSp=NP_001978.1:p.Arg163%3D;CSQ_HGVSg=12:g.12022383G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67153404;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.581 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,14:169:0.08284:65:-100:0.155:1,1,2,5,0,5,33,61,15,22,9,29:100:100 +12 12871031 . G A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=CDKN1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_004064.5;CSQ_HGVSc=NM_004064.5:c.258G>A;CSQ_HGVSp=NP_004055.1:p.Glu86%3D;CSQ_HGVSg=12:g.12871031G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=239618;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_endocrine_neoplasia_type_4&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=3.22914e-05;CSQ_gnomADe_AC=35;CSQ_gnomADe_AN=246240;CSQ_gnomADe_AF=0.000142138;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDKN1B:E86E;CSQ_CADD_PHRED=11.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,13:158:0.08228:65:-95.9852:0.1505:1,6,1,3,0,2,28,58,12,26,9,25:100:100 +12 12871099 . T G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=CDKN1B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_004064.5;CSQ_HGVSc=NM_004064.5:c.326T>G;CSQ_HGVSp=NP_004055.1:p.Val109Gly;CSQ_HGVSg=12:g.12871099T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=259226;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_endocrine_neoplasia_type_4&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=11116;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.359369;CSQ_gnomADe_AC=63552;CSQ_gnomADe_AN=244824;CSQ_gnomADe_AF=0.259582;CSQ_gnomADe_Hom=10768;CSQ_COSMICcMuts=COSV57429460&COSV57429460;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.078;CSQ_Mastermind_MMID3=CDKN1B:V109G;CSQ_CADD_PHRED=18.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,39:138:0.28261:65:-100:0.1375:0,16,5,9,1,8,22,46,13,29,12,16:100:100 +12 18435398 . GCCC G 100 PASS DP=119;CSQ_Allele=-;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=2/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.385_387del;CSQ_HGVSp=NP_001275701.1:p.Pro129del;CSQ_HGVSg=12:g.18435400_18435402del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=1258527;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10798;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.350493;CSQ_gnomADe_AC=92216;CSQ_gnomADe_AN=245030;CSQ_gnomADe_AF=0.376346;CSQ_gnomADe_Hom=17914;CSQ_COSMICcMuts=COSV56795329&COSV56795329&COSV56795329&COSV56795329;CSQ_COSMICncMuts=COSV56795329;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:5UTR&PIK3C2G:P129del;CSQ_CADD_PHRED=6.799 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,30:119:0.2521:65:-100:0:6,10,6,2,3,3,23,39,14,17,9,18:100:100 +12 18435398 . GCCC G 100 PASS DP=119;CSQ_Allele=-;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=2/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.385_387del;CSQ_HGVSp=NP_004561.3:p.Pro129del;CSQ_HGVSg=12:g.18435400_18435402del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=1258527;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10798;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.350493;CSQ_gnomADe_AC=92216;CSQ_gnomADe_AN=245030;CSQ_gnomADe_AF=0.376346;CSQ_gnomADe_Hom=17914;CSQ_COSMICcMuts=COSV56795329&COSV56795329&COSV56795329&COSV56795329;CSQ_COSMICncMuts=COSV56795329;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:5UTR&PIK3C2G:P129del;CSQ_CADD_PHRED=6.799 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,30:119:0.2521:65:-100:0:6,10,6,2,3,3,23,39,14,17,9,18:100:100 +12 18435452 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.437C>T;CSQ_HGVSp=NP_001275701.1:p.Pro146Leu;CSQ_HGVSg=12:g.18435452C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1297186;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12100;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.392017;CSQ_gnomADe_AC=94457;CSQ_gnomADe_AN=244260;CSQ_gnomADe_AF=0.386707;CSQ_gnomADe_Hom=18618;CSQ_COSMICcMuts=COSV56799947&COSV56799947&COSV56799947&COSV56799947;CSQ_COSMICncMuts=COSV56799947;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.157;CSQ_Mastermind_MMID3=PIK3C2G:5UTR&PIK3C2G:P146L;CSQ_CADD_PHRED=12.10 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,40:141:0.28369:65:-100:0.1242:7,15,1,7,3,7,20,52,10,22,14,23:100:100 +12 18435452 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.437C>T;CSQ_HGVSp=NP_004561.3:p.Pro146Leu;CSQ_HGVSg=12:g.18435452C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1297186;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12100;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.392017;CSQ_gnomADe_AC=94457;CSQ_gnomADe_AN=244260;CSQ_gnomADe_AF=0.386707;CSQ_gnomADe_Hom=18618;CSQ_COSMICcMuts=COSV56799947&COSV56799947&COSV56799947&COSV56799947;CSQ_COSMICncMuts=COSV56799947;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.157;CSQ_Mastermind_MMID3=PIK3C2G:5UTR&PIK3C2G:P146L;CSQ_CADD_PHRED=12.10 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,40:141:0.28369:65:-100:0.1242:7,15,1,7,3,7,20,52,10,22,14,23:100:100 +12 18443809 . C A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.782C>A;CSQ_HGVSp=NP_001275701.1:p.Ala261Glu;CSQ_HGVSg=12:g.18443809C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1923;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0621164;CSQ_gnomADe_AC=14478;CSQ_gnomADe_AN=242192;CSQ_gnomADe_AF=0.059779;CSQ_gnomADe_Hom=583;CSQ_COSMICcMuts=COSV56813623&COSV56813623&COSV56813623&COSV56813623;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.135;CSQ_Mastermind_MMID3=PIK3C2G:A261E&PIK3C2G:A39E;CSQ_CADD_PHRED=18.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,14:105:0.13333:65:-100:0.1732:3,6,0,2,2,1,9,37,7,15,12,25:100:100 +12 18443809 . C A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.782C>A;CSQ_HGVSp=NP_004561.3:p.Ala261Glu;CSQ_HGVSg=12:g.18443809C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1923;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0621164;CSQ_gnomADe_AC=14478;CSQ_gnomADe_AN=242192;CSQ_gnomADe_AF=0.059779;CSQ_gnomADe_Hom=583;CSQ_COSMICcMuts=COSV56813623&COSV56813623&COSV56813623&COSV56813623;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.135;CSQ_Mastermind_MMID3=PIK3C2G:A261E&PIK3C2G:A39E;CSQ_CADD_PHRED=18.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,14:105:0.13333:65:-100:0.1732:3,6,0,2,2,1,9,37,7,15,12,25:100:100 +12 18446881 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.966C>T;CSQ_HGVSp=NP_001275701.1:p.Cys322%3D;CSQ_HGVSg=12:g.18446881C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1921;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.0622448;CSQ_gnomADe_AC=14931;CSQ_gnomADe_AN=244624;CSQ_gnomADe_AF=0.0610365;CSQ_gnomADe_Hom=637;CSQ_COSMICcMuts=COSV56801935&COSV56801935&COSV56801935&COSV56801935;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:C100C&PIK3C2G:C322C;CSQ_CADD_PHRED=2.006 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,13:123:0.10569:65:-100:0.1277:3,6,0,2,0,2,23,43,8,20,10,19:100:100 +12 18446881 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.966C>T;CSQ_HGVSp=NP_004561.3:p.Cys322%3D;CSQ_HGVSg=12:g.18446881C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1921;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.0622448;CSQ_gnomADe_AC=14931;CSQ_gnomADe_AN=244624;CSQ_gnomADe_AF=0.0610365;CSQ_gnomADe_Hom=637;CSQ_COSMICcMuts=COSV56801935&COSV56801935&COSV56801935&COSV56801935;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:C100C&PIK3C2G:C322C;CSQ_CADD_PHRED=2.006 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,13:123:0.10569:65:-100:0.1277:3,6,0,2,0,2,23,43,8,20,10,19:100:100 +12 18473928 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.1170T>C;CSQ_HGVSp=NP_001275701.1:p.Asn390%3D;CSQ_HGVSg=12:g.18473928T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6039;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.195298;CSQ_gnomADe_AC=33489;CSQ_gnomADe_AN=235718;CSQ_gnomADe_AF=0.142072;CSQ_gnomADe_Hom=3405;CSQ_COSMICcMuts=COSV56802471&COSV56802471&COSV56802471&COSV56802471;CSQ_COSMICncMuts=COSV56802471;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:N168N&PIK3C2G:N390N;CSQ_CADD_PHRED=10.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,46:133:0.34586:65:-100:0.1014:12,14,4,7,0,9,18,40,9,31,5,30:100:100 +12 18473928 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.1170T>C;CSQ_HGVSp=NP_004561.3:p.Asn390%3D;CSQ_HGVSg=12:g.18473928T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6039;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.195298;CSQ_gnomADe_AC=33489;CSQ_gnomADe_AN=235718;CSQ_gnomADe_AF=0.142072;CSQ_gnomADe_Hom=3405;CSQ_COSMICcMuts=COSV56802471&COSV56802471&COSV56802471&COSV56802471;CSQ_COSMICncMuts=COSV56802471;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:N168N&PIK3C2G:N390N;CSQ_CADD_PHRED=10.57 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,46:133:0.34586:65:-100:0.1014:12,14,4,7,0,9,18,40,9,31,5,30:100:100 +12 18499636 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.1491C>T;CSQ_HGVSp=NP_001275701.1:p.Tyr497%3D;CSQ_HGVSg=12:g.18499636C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3715;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.120219;CSQ_gnomADe_AC=29129;CSQ_gnomADe_AN=245890;CSQ_gnomADe_AF=0.118464;CSQ_gnomADe_Hom=2660;CSQ_COSMICcMuts=COSV56801045&COSV56801045&COSV56801045&COSV56801045;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:Y275Y&PIK3C2G:Y497Y;CSQ_CADD_PHRED=1.923 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,29:142:0.20423:65:-100:0.1598:5,8,0,8,2,6,21,47,17,23,9,25:100:100 +12 18499636 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.1491C>T;CSQ_HGVSp=NP_004561.3:p.Tyr497%3D;CSQ_HGVSg=12:g.18499636C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3715;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.120219;CSQ_gnomADe_AC=29129;CSQ_gnomADe_AN=245890;CSQ_gnomADe_AF=0.118464;CSQ_gnomADe_Hom=2660;CSQ_COSMICcMuts=COSV56801045&COSV56801045&COSV56801045&COSV56801045;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:Y275Y&PIK3C2G:Y497Y;CSQ_CADD_PHRED=1.923 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,29:142:0.20423:65:-100:0.1598:5,8,0,8,2,6,21,47,17,23,9,25:100:100 +12 18649057 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.2855C>T;CSQ_HGVSp=NP_001275701.1:p.Pro952Leu;CSQ_HGVSg=12:g.18649057C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9198;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.298017;CSQ_gnomADe_AC=42936;CSQ_gnomADe_AN=159036;CSQ_gnomADe_AF=0.269977;CSQ_gnomADe_Hom=6286;CSQ_COSMICcMuts=COSV56807152&COSV56807152&COSV56807152;CSQ_COSMICncMuts=COSV56807152;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.592;CSQ_Mastermind_MMID3=PIK3C2G:P730L&PIK3C2G:P911L&PIK3C2G:P952L;CSQ_CADD_PHRED=28.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,29:134:0.21642:65:-100:0.1007:8,7,7,3,0,4,28,46,16,17,6,21:100:100 +12 18649057 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.2732C>T;CSQ_HGVSp=NP_004561.3:p.Pro911Leu;CSQ_HGVSg=12:g.18649057C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9198;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.298017;CSQ_gnomADe_AC=42936;CSQ_gnomADe_AN=159036;CSQ_gnomADe_AF=0.269977;CSQ_gnomADe_Hom=6286;CSQ_COSMICcMuts=COSV56807152&COSV56807152&COSV56807152;CSQ_COSMICncMuts=COSV56807152;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.592;CSQ_Mastermind_MMID3=PIK3C2G:P730L&PIK3C2G:P911L&PIK3C2G:P952L;CSQ_CADD_PHRED=28.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,29:134:0.21642:65:-100:0.1007:8,7,7,3,0,4,28,46,16,17,6,21:100:100 +12 18656225 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.3027G>A;CSQ_HGVSp=NP_001275701.1:p.Gln1009%3D;CSQ_HGVSg=12:g.18656225G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6357;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.205768;CSQ_gnomADe_AC=34966;CSQ_gnomADe_AN=240388;CSQ_gnomADe_AF=0.145457;CSQ_gnomADe_Hom=3235;CSQ_COSMICcMuts=COSV56809592&COSV56809592&COSV56809592;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:Q1009Q&PIK3C2G:Q787Q&PIK3C2G:Q968Q;CSQ_CADD_PHRED=4.897 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,21:139:0.15108:65:-100:0.1258:1,7,1,5,2,5,14,53,17,26,8,21:100:100 +12 18656225 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.2904G>A;CSQ_HGVSp=NP_004561.3:p.Gln968%3D;CSQ_HGVSg=12:g.18656225G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6357;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.205768;CSQ_gnomADe_AC=34966;CSQ_gnomADe_AN=240388;CSQ_gnomADe_AF=0.145457;CSQ_gnomADe_Hom=3235;CSQ_COSMICcMuts=COSV56809592&COSV56809592&COSV56809592;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3C2G:Q1009Q&PIK3C2G:Q787Q&PIK3C2G:Q968Q;CSQ_CADD_PHRED=4.897 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,21:139:0.15108:65:-100:0.1258:1,7,1,5,2,5,14,53,17,26,8,21:100:100 +12 18658244 . T C 100 PASS DP=123;CSQ_Allele=C;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/33;CSQ_INTRON=.;CSQ_Feature=NM_001288772.2;CSQ_HGVSc=NM_001288772.2:c.3172T>C;CSQ_HGVSp=NP_001275701.1:p.Tyr1058His;CSQ_HGVSg=12:g.18658244T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.00032281;CSQ_gnomADe_AC=11;CSQ_gnomADe_AN=235580;CSQ_gnomADe_AF=4.66933e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.234;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,15:123:0.12195:65:-100:0.1277:4,5,1,2,2,1,22,37,6,26,11,21:100:100 +12 18658244 . T C 100 PASS DP=123;CSQ_Allele=C;CSQ_SYMBOL=PIK3C2G;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/32;CSQ_INTRON=.;CSQ_Feature=NM_004570.6;CSQ_HGVSc=NM_004570.6:c.3049T>C;CSQ_HGVSp=NP_004561.3:p.Tyr1017His;CSQ_HGVSg=12:g.18658244T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.00032281;CSQ_gnomADe_AC=11;CSQ_gnomADe_AN=235580;CSQ_gnomADe_AF=4.66933e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.234;CSQ_Mastermind_MMID3=PIK3C2G:Y1017H;CSQ_CADD_PHRED=24.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,15:123:0.12195:65:-100:0.1277:4,5,1,2,2,1,22,37,6,26,11,21:100:100 +12 25362217 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=KRAS;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.*512T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25362217A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=308118;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Noonan_syndrome&Noonan_syndrome_and_Noonan-related_syndrome;CSQ_gnomADg_AC=15471;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.501036;CSQ_gnomADe_AC=59460;CSQ_gnomADe_AN=102534;CSQ_gnomADe_AF=0.579905;CSQ_gnomADe_Hom=17628;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:3UTR;CSQ_CADD_PHRED=16.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,89:134:0.66418:65:-100:0.1184:14,33,10,14,6,12,20,48,14,23,11,18:100:100 +12 25362217 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=KRAS;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.*633T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25362217A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=308118;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Noonan_syndrome&Noonan_syndrome_and_Noonan-related_syndrome;CSQ_gnomADg_AC=15471;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.501036;CSQ_gnomADe_AC=59460;CSQ_gnomADe_AN=102534;CSQ_gnomADe_AF=0.579905;CSQ_gnomADe_Hom=17628;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:3UTR;CSQ_CADD_PHRED=16.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,89:134:0.66418:65:-100:0.1184:14,33,10,14,6,12,20,48,14,23,11,18:100:100 +12 25364978 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.451-2133A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25364978T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3444;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.111283;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:3UTR&KRAS:3UTRint&KRAS:3UTRinta&KRAS:Q150int&KRAS:Q150inta;CSQ_CADD_PHRED=0.040 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,12:115:0.10435:65:-100:0.1481:1,4,1,2,1,3,23,32,15,20,10,15:100:100 +12 25364978 . T C 100 PASS DP=115;CSQ_Allele=C;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.*5-2133A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25364978T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3444;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.111283;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:3UTR&KRAS:3UTRint&KRAS:3UTRinta&KRAS:Q150int&KRAS:Q150inta;CSQ_CADD_PHRED=0.040 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,12:115:0.10435:65:-100:0.1481:1,4,1,2,1,3,23,32,15,20,10,15:100:100 +12 25368462 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.451-5617G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25368462C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=46538;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=30921;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.998547;CSQ_gnomADe_AC=245955;CSQ_gnomADe_AN=246046;CSQ_gnomADe_AF=0.99963;CSQ_gnomADe_Hom=122932;CSQ_COSMICcMuts=COSV55501936&COSV55501936&COSV55501936;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.22 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,96:96:1:65:-100:0.1579:19,32,4,16,12,13,19,32,4,16,12,13:100:100 +12 25368462 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/6;CSQ_INTRON=.;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.483G>A;CSQ_HGVSp=NP_203524.1:p.Arg161%3D;CSQ_HGVSg=12:g.25368462C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=46538;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=30921;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.998547;CSQ_gnomADe_AC=245955;CSQ_gnomADe_AN=246046;CSQ_gnomADe_AF=0.99963;CSQ_gnomADe_Hom=122932;CSQ_COSMICcMuts=COSV55501936&COSV55501936&COSV55501936;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.22 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,96:96:1:65:-100:0.1579:19,32,4,16,12,13,19,32,4,16,12,13:100:100 +12 25369703 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.451-6858A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25369703T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2457;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0793553;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:Q150int&KRAS:Q150inta;CSQ_CADD_PHRED=2.516 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,10:122:0.08197:65:-100:0.1867:1,4,3,0,0,2,17,40,13,16,8,28:100:100 +12 25369703 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.451-1209A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25369703T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2457;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0793553;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:Q150int&KRAS:Q150inta;CSQ_CADD_PHRED=2.516 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,10:122:0.08197:65:-100:0.1867:1,4,3,0,0,2,17,40,13,16,8,28:100:100 +12 25370249 . T G 100 PASS DP=97;CSQ_Allele=G;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.451-7404A>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25370249T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30926;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.998515;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.614 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,97:97:1:65:-100:0.1565:24,31,7,7,12,16,24,31,7,7,12,16:100:100 +12 25370249 . T G 100 PASS DP=97;CSQ_Allele=G;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.451-1755A>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25370249T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30926;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.998515;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.614 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,97:97:1:65:-100:0.1565:24,31,7,7,12,16,24,31,7,7,12,16:100:100 +12 25371462 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.450+7086G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25371462C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7335;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.237748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:Q150int&KRAS:Q150inta&KRAS:Q150intd;CSQ_CADD_PHRED=7.312 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,16:127:0.12598:65:-100:0.1533:1,6,1,4,0,4,19,42,12,24,13,17:100:100 +12 25371462 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.451-2968G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25371462C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7335;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.237748;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:Q150int&KRAS:Q150inta&KRAS:Q150intd;CSQ_CADD_PHRED=7.312 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,16:127:0.12598:65:-100:0.1533:1,6,1,4,0,4,19,42,12,24,13,17:100:100 +12 25374197 . C T 100 PASS DP=95;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.450+4351G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25374197C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18256;CSQ_gnomADg_AN=29126;CSQ_gnomADg_AF=0.626794;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.126 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,71:95:0.74737:65:-100:0.2963:8,13,12,16,9,13,15,18,15,21,9,17:100:100 +12 25374197 . C T 100 PASS DP=95;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.450+4351G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25374197C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18256;CSQ_gnomADg_AN=29126;CSQ_gnomADg_AF=0.626794;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.126 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,71:95:0.74737:65:-100:0.2963:8,13,12,16,9,13,15,18,15,21,9,17:100:100 +12 25379368 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.291-661C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25379368G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=545;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0176136;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:R97int&KRAS:R97inta;CSQ_CADD_PHRED=3.958 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,11:124:0.08871:65:-100:0.1206:0,3,1,3,0,4,17,48,6,22,10,21:100:100 +12 25379368 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.291-661C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25379368G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=545;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0176136;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:R97int&KRAS:R97inta;CSQ_CADD_PHRED=3.958 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,11:124:0.08871:65:-100:0.1206:0,3,1,3,0,4,17,48,6,22,10,21:100:100 +12 25389507 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.111+8701T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25389507A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29387;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.95042;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:E37int&KRAS:E37intd;CSQ_CADD_PHRED=4.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,135:135:1:65:-100:0.1:27,42,13,26,6,21,27,42,13,26,6,21:100:100 +12 25389507 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.111+8701T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25389507A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29387;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.95042;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:E37int&KRAS:E37intd;CSQ_CADD_PHRED=4.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,135:135:1:65:-100:0.1:27,42,13,26,6,21,27,42,13,26,6,21:100:100 +12 25389605 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.111+8603C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25389605G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1474;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.047656;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.092 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,16:132:0.12121:65:-100:0.1801:2,6,1,3,3,1,12,45,15,25,16,19:100:100 +12 25389605 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.111+8603C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25389605G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1474;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.047656;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.092 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,16:132:0.12121:65:-100:0.1801:2,6,1,3,3,1,12,45,15,25,16,19:100:100 +12 25393079 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.111+5129G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25393079C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=494;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0159571;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-98.8589:0.128:0,1,2,4,1,2,20,35,12,15,5,22:100:100 +12 25393079 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.111+5129G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25393079C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=494;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0159571;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.780 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,10:109:0.09174:65:-98.8589:0.128:0,1,2,4,1,2,20,35,12,15,5,22:100:100 +12 25394340 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.111+3868G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25394340C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.361 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,7:118:0.05932:65:-98.5248:0.1449:2,1,1,1,0,2,23,44,7,20,7,17:88.111:100 +12 25394340 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.111+3868G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25394340C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.361 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,7:118:0.05932:65:-98.5248:0.1449:2,1,1,1,0,2,23,44,7,20,7,17:88.111:100 +12 25398281 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.38G>A;CSQ_HGVSp=NP_004976.2:p.Gly13Asp;CSQ_HGVSg=12:g.25398281C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12580;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Pathogenic(5)&Uncertain_significance(1);CSQ_ClinVar_CLNDN=OCULOECTODERMAL_SYNDROME&_SOMATIC&Acute_myeloid_leukemia&Nevus_sebaceous&Juvenile_myelomonocytic_leukemia&Non-small_cell_lung_carcinoma&Thyroid_tumor&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Breast_adenocarcinoma&Encephalocraniocutaneous_lipomatosis&Autoimmune_lymphoproliferative_syndrome_type_4&Noonan_syndrome_and_Noonan-related_syndrome&RASopathy&Inborn_genetic_diseases¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55497388&COSV55497388&COSV55497388&COSV55497388;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=KRAS:G13;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=0.832;CSQ_Mastermind_MMID3=KRAS:G13D;CSQ_CADD_PHRED=24.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,7:137:0.05109:65:-100:0.1274:2,2,0,2,1,0,25,41,13,37,7,14:66.612:100 +12 25398281 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=KRAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.38G>A;CSQ_HGVSp=NP_203524.1:p.Gly13Asp;CSQ_HGVSg=12:g.25398281C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12580;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Pathogenic(5)&Uncertain_significance(1);CSQ_ClinVar_CLNDN=OCULOECTODERMAL_SYNDROME&_SOMATIC&Acute_myeloid_leukemia&Nevus_sebaceous&Juvenile_myelomonocytic_leukemia&Non-small_cell_lung_carcinoma&Thyroid_tumor&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Breast_adenocarcinoma&Encephalocraniocutaneous_lipomatosis&Autoimmune_lymphoproliferative_syndrome_type_4&Noonan_syndrome_and_Noonan-related_syndrome&RASopathy&Inborn_genetic_diseases¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55497388&COSV55497388&COSV55497388&COSV55497388;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=KRAS:G13;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=0.832;CSQ_Mastermind_MMID3=KRAS:G13D;CSQ_CADD_PHRED=24.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,7:137:0.05109:65:-100:0.1274:2,2,0,2,1,0,25,41,13,37,7,14:66.612:100 +12 25400962 . G C 100 PASS DP=113;CSQ_Allele=C;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_004985.5;CSQ_HGVSc=NM_004985.5:c.-11-2633C>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25400962G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:5UTR&KRAS:5UTRint&KRAS:5UTRinta;CSQ_CADD_PHRED=0.238 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,32:113:0.28319:65:-100:0.096:4,7,6,4,4,7,18,32,16,16,12,19:100:100 +12 25400962 . G C 100 PASS DP=113;CSQ_Allele=C;CSQ_SYMBOL=KRAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/5;CSQ_Feature=NM_033360.4;CSQ_HGVSc=NM_033360.4:c.-11-2633C>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.25400962G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KRAS:5UTR&KRAS:5UTRint&KRAS:5UTRinta;CSQ_CADD_PHRED=0.238 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,32:113:0.28319:65:-100:0.096:4,7,6,4,4,7,18,32,16,16,12,19:100:100 +12 31944691 . A C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=H3F3C;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/1;CSQ_INTRON=.;CSQ_Feature=NM_001013699.3;CSQ_HGVSc=NM_001013699.3:c.*2T>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.31944691A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7132;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.230899;CSQ_gnomADe_AC=50229;CSQ_gnomADe_AN=245238;CSQ_gnomADe_AF=0.204817;CSQ_gnomADe_Hom=5593;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=H3-5:3UTR;CSQ_CADD_PHRED=13.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,16:143:0.11189:65:-100:0.1488:3,4,3,4,1,1,15,47,12,33,10,26:100:100 +12 46211516 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=ARID2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/21;CSQ_INTRON=.;CSQ_Feature=NM_152641.4;CSQ_HGVSc=NM_152641.4:c.482T>C;CSQ_HGVSp=NP_689854.2:p.Leu161Ser;CSQ_HGVSg=12:g.46211516T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.800;CSQ_Mastermind_MMID3=ARID2:L161S;CSQ_CADD_PHRED=26.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,17:136:0.125:65:-100:0.0933:4,7,1,0,1,4,21,50,10,27,10,18:100:100 +12 52385715 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=ACVR1B;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=8/9;CSQ_INTRON=.;CSQ_Feature=NM_004302.5;CSQ_HGVSc=NM_004302.5:c.1330C>T;CSQ_HGVSp=NP_004293.1:p.Arg444Ter;CSQ_HGVSg=12:g.52385715C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57774850&COSV57774850&COSV57774850&COSV57774850;CSQ_COSMICncMuts=COSV57774850&COSV57774850;CSQ_CGC=TSG;CSQ_Hotspots=ACVR1B:R485;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ACVR1B:R444X&ACVR1B:R485X;CSQ_CADD_PHRED=38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,8:147:0.05442:65:-100:0.0696:2,2,1,0,0,3,22,45,11,32,15,22:79.991:100 +12 52385715 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=ACVR1B;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_020328.4;CSQ_HGVSc=NM_020328.4:c.1453C>T;CSQ_HGVSp=NP_064733.3:p.Arg485Ter;CSQ_HGVSg=12:g.52385715C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57774850&COSV57774850&COSV57774850&COSV57774850;CSQ_COSMICncMuts=COSV57774850&COSV57774850;CSQ_CGC=TSG;CSQ_Hotspots=ACVR1B:R485;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ACVR1B:R444X&ACVR1B:R485X;CSQ_CADD_PHRED=38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,8:147:0.05442:65:-100:0.0696:2,2,1,0,0,3,22,45,11,32,15,22:79.991:100 +12 52387858 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=ACVR1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_004302.5;CSQ_HGVSc=NM_004302.5:c.1482C>T;CSQ_HGVSp=NP_004293.1:p.Leu494%3D;CSQ_HGVSg=12:g.52387858C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=788883;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=385;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0124354;CSQ_gnomADe_AC=734;CSQ_gnomADe_AN=246060;CSQ_gnomADe_AF=0.00298301;CSQ_gnomADe_Hom=16;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,17:139:0.1223:65:-100:0.109:2,7,2,3,0,3,29,46,13,22,7,22:100:100 +12 52387858 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=ACVR1B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_020328.4;CSQ_HGVSc=NM_020328.4:c.1605C>T;CSQ_HGVSp=NP_064733.3:p.Leu535%3D;CSQ_HGVSg=12:g.52387858C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=788883;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=385;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0124354;CSQ_gnomADe_AC=734;CSQ_gnomADe_AN=246060;CSQ_gnomADe_AF=0.00298301;CSQ_gnomADe_Hom=16;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.502 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,17:139:0.1223:65:-100:0.109:2,7,2,3,0,3,29,46,13,22,7,22:100:100 +12 56474379 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ERBB3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_001005915.1;CSQ_HGVSc=NM_001005915.1:c.82+213T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.56474379T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1293095;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=20063;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.650087;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB3:V28int&ERBB3:V28intd;CSQ_CADD_PHRED=10.53 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,73:103:0.70874:65:-100:0.1694:16,21,7,9,13,7,24,28,11,13,15,12:100:100 +12 56474379 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=ERBB3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/27;CSQ_Feature=NM_001982.4;CSQ_HGVSc=NM_001982.4:c.82+213T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.56474379T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1293095;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=20063;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.650087;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB3:V28int&ERBB3:V28intd;CSQ_CADD_PHRED=10.53 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,73:103:0.70874:65:-100:0.1694:16,21,7,9,13,7,24,28,11,13,15,12:100:100 +12 56479133 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ERBB3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_001005915.1;CSQ_HGVSc=NM_001005915.1:c.*37T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.56479133T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.297 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,20:135:0.14815:65:-100:0.129:1,10,0,4,0,5,22,54,10,26,4,19:100:100 +12 56479133 . T C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=ERBB3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/27;CSQ_Feature=NM_001982.4;CSQ_HGVSc=NM_001982.4:c.421+168T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.56479133T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.297 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,20:135:0.14815:65:-100:0.129:1,10,0,4,0,5,22,54,10,26,4,19:100:100 +12 56492559 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=ERBB3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/28;CSQ_INTRON=.;CSQ_Feature=NM_001982.4;CSQ_HGVSc=NM_001982.4:c.2709G>A;CSQ_HGVSp=NP_001973.2:p.Glu903%3D;CSQ_HGVSg=12:g.56492559G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=246270;CSQ_gnomADe_AF=1.21818e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.66 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,17:145:0.11724:65:-100:0.152:5,3,1,3,3,2,20,46,14,32,12,21:100:100 +12 56494991 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=ERBB3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=27/28;CSQ_INTRON=.;CSQ_Feature=NM_001982.4;CSQ_HGVSc=NM_001982.4:c.3348G>A;CSQ_HGVSp=NP_001973.2:p.Arg1116%3D;CSQ_HGVSg=12:g.56494991G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1248586;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Lethal_congenital_contracture_syndrome_2&Visceral_neuropathy&_familial¬_provided;CSQ_gnomADg_AC=10024;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.325603;CSQ_gnomADe_AC=85350;CSQ_gnomADe_AN=245982;CSQ_gnomADe_AF=0.346977;CSQ_gnomADe_Hom=15549;CSQ_COSMICcMuts=COSV57251880&COSV57251880&COSV57251880&COSV57251880&COSV57251880;CSQ_COSMICncMuts=COSV57251880&COSV57251880&COSV57251880&COSV57251880&COSV57251880&COSV57251880&COSV57251880&COSV57251880&COSV57251880;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB3:R1116R;CSQ_CADD_PHRED=9.637 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,28:149:0.18792:65:-100:0.1534:3,8,4,9,1,3,26,46,19,27,10,21:100:100 +12 56494998 . A T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=ERBB3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=27/28;CSQ_INTRON=.;CSQ_Feature=NM_001982.4;CSQ_HGVSc=NM_001982.4:c.3355A>T;CSQ_HGVSp=NP_001973.2:p.Ser1119Cys;CSQ_HGVSg=12:g.56494998A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1178942;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2897;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.0939121;CSQ_gnomADe_AC=21966;CSQ_gnomADe_AN=246110;CSQ_gnomADe_AF=0.0892528;CSQ_gnomADe_Hom=1149;CSQ_COSMICcMuts=COSV57247854&COSV57247854&COSV57247854&COSV57247854&COSV57247854;CSQ_COSMICncMuts=COSV57247854&COSV57247854&COSV57247854&COSV57247854&COSV57247854&COSV57247854&COSV57247854&COSV57247854&COSV57247854;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=0.325;CSQ_Mastermind_MMID3=ERBB3:S1119C;CSQ_CADD_PHRED=24.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,22:149:0.14765:65:-100:0.1387:2,5,4,8,0,3,25,46,23,26,8,21:100:100 +12 56497216 . C T 100 PASS DP=171;CSQ_Allele=T;CSQ_SYMBOL=ERBB3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=28/28;CSQ_INTRON=.;CSQ_Feature=NM_001982.4;CSQ_HGVSc=NM_001982.4:c.*1377C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.56497216C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2289;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0740106;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.188 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,27:171:0.15789:65:-100:0.1576:6,9,1,7,1,3,28,56,14,32,19,22:100:100 +12 56497217 . G GTC 100 PASS DP=167;CSQ_Allele=TC;CSQ_SYMBOL=ERBB3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=28/28;CSQ_INTRON=.;CSQ_Feature=NM_001982.4;CSQ_HGVSc=NM_001982.4:c.*1380_*1381dup;CSQ_HGVSp=.;CSQ_HGVSg=12:g.56497219_56497220dup;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2289;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0740058;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.759 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,26:167:0.15569:65:-100:0:6,8,1,7,2,2,28,56,14,31,18,22:100:100 +12 57485385 . C T 100 PASS DP=168;CSQ_Allele=T;CSQ_SYMBOL=NAB2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_005967.4;CSQ_HGVSc=NM_005967.4:c.561C>T;CSQ_HGVSp=NP_005958.1:p.Gly187%3D;CSQ_HGVSg=12:g.57485385C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=237368;CSQ_gnomADe_AF=8.42574e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55667646&COSV55667646&COSV55667646;CSQ_COSMICncMuts=COSV55667646&COSV55667646&COSV55667646&COSV55667646&COSV55667646&COSV55667646&COSV55667646&COSV55667646&COSV55667646&COSV55667646&COSV55667646&COSV55667646;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.67 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,14:168:0.08333:65:-100:0.125:4,2,2,4,1,1,26,48,14,39,17,24:100:100 +12 57486033 . A C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=NAB2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/6;CSQ_Feature=NM_005967.4;CSQ_HGVSc=NM_005967.4:c.958-198A>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.57486033A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11260;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.365323;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55665384&COSV55665384&COSV55665384;CSQ_COSMICncMuts=COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384&COSV55665384;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NAB2:E319int&NAB2:E319inta;CSQ_CADD_PHRED=2.557 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,66:157:0.42038:65:-100:0.1604:10,26,5,13,4,8,24,57,18,23,10,25:100:100 +12 57486475 . G A 100 PASS DP=174;CSQ_Allele=A;CSQ_SYMBOL=NAB2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/6;CSQ_Feature=NM_005967.4;CSQ_HGVSc=NM_005967.4:c.1091+111G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.57486475G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,11:174:0.06322:65:-100:0.1429:0,3,5,2,1,0,32,60,12,26,16,28:100:100 +12 57486647 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=NAB2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/6;CSQ_Feature=NM_005967.4;CSQ_HGVSc=NM_005967.4:c.1092-53A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.57486647A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19010;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.61533;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55665401&COSV55665401&COSV55665401;CSQ_COSMICncMuts=COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401&COSV55665401;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NAB2:R364int&NAB2:R364inta;CSQ_CADD_PHRED=0.356 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,80:140:0.57143:65:-100:0.1667:10,27,10,12,4,17,14,52,14,24,8,28:100:100 +12 57487729 . T G 100 PASS DP=155;CSQ_Allele=G;CSQ_SYMBOL=NAB2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_005967.4;CSQ_HGVSc=NM_005967.4:c.1468+348T>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.57487729T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19226;CSQ_gnomADg_AN=30698;CSQ_gnomADg_AF=0.626295;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV100272473&COSV100272473&COSV100272473;CSQ_COSMICncMuts=COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473&COSV100272473;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NAB2:E426int&NAB2:E426inta&NAB2:E490int&NAB2:E490intd;CSQ_CADD_PHRED=10.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,88:155:0.56774:65:-100:0.1484:18,33,1,15,5,16,26,60,11,25,9,24:100:100 +12 57487814 . A C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=NAB2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_005967.4;CSQ_HGVSc=NM_005967.4:c.1468+433A>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.57487814A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21902;CSQ_gnomADg_AN=30538;CSQ_gnomADg_AF=0.717205;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV100272476&COSV100272476&COSV100272476;CSQ_COSMICncMuts=COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476&COSV100272476;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NAB2:E426int&NAB2:E426inta&NAB2:E490int&NAB2:E490intd;CSQ_CADD_PHRED=7.016 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,106:145:0.73103:65:-100:0.1714:16,41,14,19,7,9,19,61,18,25,8,14:100:100 +12 57488948 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=NAB2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_005967.4;CSQ_HGVSc=NM_005967.4:c.*444C>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.57488948C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.000193861;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,10:143:0.06993:65:-100:0.1538:3,2,1,1,2,1,27,46,12,25,11,22:100:100 +12 57859431 . G A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001160045.2;CSQ_HGVSc=NM_001160045.2:c.192G>A;CSQ_HGVSp=NP_001153517.1:p.Glu64%3D;CSQ_HGVSg=12:g.57859431G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1277191;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8¬_provided;CSQ_gnomADg_AC=14477;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.468997;CSQ_gnomADe_AC=122246;CSQ_gnomADe_AN=245884;CSQ_gnomADe_AF=0.497169;CSQ_gnomADe_Hom=33203;CSQ_COSMICcMuts=COSV57357787&COSV57357787&COSV57357787;CSQ_COSMICncMuts=COSV57357787&COSV57357787;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:E151E&GLI1:E192E&GLI1:E64E;CSQ_CADD_PHRED=9.271 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,89:138:0.64493:65:-100:0.1375:20,34,5,13,6,11,27,55,9,21,10,16:100:100 +12 57859431 . G A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001167609.2;CSQ_HGVSc=NM_001167609.2:c.453G>A;CSQ_HGVSp=NP_001161081.1:p.Glu151%3D;CSQ_HGVSg=12:g.57859431G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1277191;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8¬_provided;CSQ_gnomADg_AC=14477;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.468997;CSQ_gnomADe_AC=122246;CSQ_gnomADe_AN=245884;CSQ_gnomADe_AF=0.497169;CSQ_gnomADe_Hom=33203;CSQ_COSMICcMuts=COSV57357787&COSV57357787&COSV57357787;CSQ_COSMICncMuts=COSV57357787&COSV57357787;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:E151E&GLI1:E192E&GLI1:E64E;CSQ_CADD_PHRED=9.271 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,89:138:0.64493:65:-100:0.1375:20,34,5,13,6,11,27,55,9,21,10,16:100:100 +12 57859431 . G A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_005269.3;CSQ_HGVSc=NM_005269.3:c.576G>A;CSQ_HGVSp=NP_005260.1:p.Glu192%3D;CSQ_HGVSg=12:g.57859431G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1277191;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8¬_provided;CSQ_gnomADg_AC=14477;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.468997;CSQ_gnomADe_AC=122246;CSQ_gnomADe_AN=245884;CSQ_gnomADe_AF=0.497169;CSQ_gnomADe_Hom=33203;CSQ_COSMICcMuts=COSV57357787&COSV57357787&COSV57357787;CSQ_COSMICncMuts=COSV57357787&COSV57357787;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:E151E&GLI1:E192E&GLI1:E64E;CSQ_CADD_PHRED=9.271 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,89:138:0.64493:65:-100:0.1375:20,34,5,13,6,11,27,55,9,21,10,16:100:100 +12 57859461 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001160045.2;CSQ_HGVSc=NM_001160045.2:c.222C>G;CSQ_HGVSp=NP_001153517.1:p.Pro74%3D;CSQ_HGVSg=12:g.57859461C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57366002&COSV57366002&COSV57366002;CSQ_COSMICncMuts=COSV57366002&COSV57366002;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.11 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,8:154:0.05195:65:-100:0.1149:1,4,0,3,0,0,24,65,9,23,13,20:91.033:100 +12 57859461 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001167609.2;CSQ_HGVSc=NM_001167609.2:c.483C>G;CSQ_HGVSp=NP_001161081.1:p.Pro161%3D;CSQ_HGVSg=12:g.57859461C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57366002&COSV57366002&COSV57366002;CSQ_COSMICncMuts=COSV57366002&COSV57366002;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.11 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,8:154:0.05195:65:-100:0.1149:1,4,0,3,0,0,24,65,9,23,13,20:91.033:100 +12 57859461 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_005269.3;CSQ_HGVSc=NM_005269.3:c.606C>G;CSQ_HGVSp=NP_005260.1:p.Pro202%3D;CSQ_HGVSg=12:g.57859461C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57366002&COSV57366002&COSV57366002;CSQ_COSMICncMuts=COSV57366002&COSV57366002;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.11 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,8:154:0.05195:65:-100:0.1149:1,4,0,3,0,0,24,65,9,23,13,20:91.033:100 +12 57860046 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001160045.2;CSQ_HGVSc=NM_001160045.2:c.402C>T;CSQ_HGVSp=NP_001153517.1:p.His134%3D;CSQ_HGVSg=12:g.57860046C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1611;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0521224;CSQ_gnomADe_AC=7852;CSQ_gnomADe_AN=245396;CSQ_gnomADe_AF=0.0319973;CSQ_gnomADe_Hom=307;CSQ_COSMICcMuts=COSV57359402&COSV57359402&COSV57359402;CSQ_COSMICncMuts=COSV57359402&COSV57359402&COSV57359402;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:H134H&GLI1:H221H&GLI1:H262H;CSQ_CADD_PHRED=1.471 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,22:147:0.14966:65:-100:0.1742:2,11,3,3,0,3,20,63,16,19,8,21:100:100 +12 57860046 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_001167609.2;CSQ_HGVSc=NM_001167609.2:c.663C>T;CSQ_HGVSp=NP_001161081.1:p.His221%3D;CSQ_HGVSg=12:g.57860046C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1611;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0521224;CSQ_gnomADe_AC=7852;CSQ_gnomADe_AN=245396;CSQ_gnomADe_AF=0.0319973;CSQ_gnomADe_Hom=307;CSQ_COSMICcMuts=COSV57359402&COSV57359402&COSV57359402;CSQ_COSMICncMuts=COSV57359402&COSV57359402&COSV57359402;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:H134H&GLI1:H221H&GLI1:H262H;CSQ_CADD_PHRED=1.471 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,22:147:0.14966:65:-100:0.1742:2,11,3,3,0,3,20,63,16,19,8,21:100:100 +12 57860046 . C T 100 PASS DP=147;CSQ_Allele=T;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/12;CSQ_INTRON=.;CSQ_Feature=NM_005269.3;CSQ_HGVSc=NM_005269.3:c.786C>T;CSQ_HGVSp=NP_005260.1:p.His262%3D;CSQ_HGVSg=12:g.57860046C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1611;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.0521224;CSQ_gnomADe_AC=7852;CSQ_gnomADe_AN=245396;CSQ_gnomADe_AF=0.0319973;CSQ_gnomADe_Hom=307;CSQ_COSMICcMuts=COSV57359402&COSV57359402&COSV57359402;CSQ_COSMICncMuts=COSV57359402&COSV57359402&COSV57359402;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:H134H&GLI1:H221H&GLI1:H262H;CSQ_CADD_PHRED=1.471 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,22:147:0.14966:65:-100:0.1742:2,11,3,3,0,3,20,63,16,19,8,21:100:100 +12 57860074 . TG T 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=GLI1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001160045.2;CSQ_HGVSc=NM_001160045.2:c.437del;CSQ_HGVSp=NP_001153517.1:p.Gly146AlafsTer6;CSQ_HGVSg=12:g.57860081del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57357941&COSV57357941&COSV57357941;CSQ_COSMICncMuts=COSV57357941&COSV57357941&COSV57357941;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,20:153:0.13072:65:-100:0:1,8,2,5,1,3,21,61,13,27,9,22:100:100 +12 57860074 . TG T 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=GLI1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_001167609.2;CSQ_HGVSc=NM_001167609.2:c.698del;CSQ_HGVSp=NP_001161081.1:p.Gly233AlafsTer6;CSQ_HGVSg=12:g.57860081del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57357941&COSV57357941&COSV57357941;CSQ_COSMICncMuts=COSV57357941&COSV57357941&COSV57357941;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,20:153:0.13072:65:-100:0:1,8,2,5,1,3,21,61,13,27,9,22:100:100 +12 57860074 . TG T 100 PASS DP=153;CSQ_Allele=-;CSQ_SYMBOL=GLI1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=8/12;CSQ_INTRON=.;CSQ_Feature=NM_005269.3;CSQ_HGVSc=NM_005269.3:c.821del;CSQ_HGVSp=NP_005260.1:p.Gly274AlafsTer6;CSQ_HGVSg=12:g.57860081del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57357941&COSV57357941&COSV57357941;CSQ_COSMICncMuts=COSV57357941&COSV57357941&COSV57357941;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,20:153:0.13072:65:-100:0:1,8,2,5,1,3,21,61,13,27,9,22:100:100 +12 57861785 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_001160045.2;CSQ_HGVSc=NM_001160045.2:c.702T>C;CSQ_HGVSp=NP_001153517.1:p.Tyr234%3D;CSQ_HGVSg=12:g.57861785T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=704;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0227346;CSQ_gnomADe_AC=6351;CSQ_gnomADe_AN=245318;CSQ_gnomADe_AF=0.0258888;CSQ_gnomADe_Hom=108;CSQ_COSMICcMuts=COSV57359128&COSV57359128&COSV57359128;CSQ_COSMICncMuts=COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:Y234Y&GLI1:Y321Y&GLI1:Y362Y;CSQ_CADD_PHRED=0.569 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,12:138:0.08696:65:-100:0.1882:4,2,1,1,1,3,17,54,8,21,10,28:100:100 +12 57861785 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/11;CSQ_INTRON=.;CSQ_Feature=NM_001167609.2;CSQ_HGVSc=NM_001167609.2:c.963T>C;CSQ_HGVSp=NP_001161081.1:p.Tyr321%3D;CSQ_HGVSg=12:g.57861785T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=704;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0227346;CSQ_gnomADe_AC=6351;CSQ_gnomADe_AN=245318;CSQ_gnomADe_AF=0.0258888;CSQ_gnomADe_Hom=108;CSQ_COSMICcMuts=COSV57359128&COSV57359128&COSV57359128;CSQ_COSMICncMuts=COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:Y234Y&GLI1:Y321Y&GLI1:Y362Y;CSQ_CADD_PHRED=0.569 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,12:138:0.08696:65:-100:0.1882:4,2,1,1,1,3,17,54,8,21,10,28:100:100 +12 57861785 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=GLI1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/12;CSQ_INTRON=.;CSQ_Feature=NM_005269.3;CSQ_HGVSc=NM_005269.3:c.1086T>C;CSQ_HGVSp=NP_005260.1:p.Tyr362%3D;CSQ_HGVSg=12:g.57861785T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=704;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0227346;CSQ_gnomADe_AC=6351;CSQ_gnomADe_AN=245318;CSQ_gnomADe_AF=0.0258888;CSQ_gnomADe_Hom=108;CSQ_COSMICcMuts=COSV57359128&COSV57359128&COSV57359128;CSQ_COSMICncMuts=COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128&COSV57359128;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GLI1:Y234Y&GLI1:Y321Y&GLI1:Y362Y;CSQ_CADD_PHRED=0.569 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,12:138:0.08696:65:-100:0.1882:4,2,1,1,1,3,17,54,8,21,10,28:100:100 +12 57865321 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=GLI1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001160045.2;CSQ_HGVSc=NM_001160045.2:c.2414G>A;CSQ_HGVSp=NP_001153517.1:p.Gly805Asp;CSQ_HGVSg=12:g.57865321G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1240928;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8¬_provided;CSQ_gnomADg_AC=14487;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.470357;CSQ_gnomADe_AC=121971;CSQ_gnomADe_AN=244672;CSQ_gnomADe_AF=0.498508;CSQ_gnomADe_Hom=33248;CSQ_COSMICcMuts=COSV57357796&COSV57357796&COSV57357796;CSQ_COSMICncMuts=COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.060;CSQ_Mastermind_MMID3=GLI1:G805D&GLI1:G892D&GLI1:G933D;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,85:133:0.6391:65:-100:0.1635:14,31,3,13,4,20,22,50,5,20,9,27:100:100 +12 57865321 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=GLI1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001167609.2;CSQ_HGVSc=NM_001167609.2:c.2675G>A;CSQ_HGVSp=NP_001161081.1:p.Gly892Asp;CSQ_HGVSg=12:g.57865321G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1240928;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8¬_provided;CSQ_gnomADg_AC=14487;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.470357;CSQ_gnomADe_AC=121971;CSQ_gnomADe_AN=244672;CSQ_gnomADe_AF=0.498508;CSQ_gnomADe_Hom=33248;CSQ_COSMICcMuts=COSV57357796&COSV57357796&COSV57357796;CSQ_COSMICncMuts=COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.060;CSQ_Mastermind_MMID3=GLI1:G805D&GLI1:G892D&GLI1:G933D;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,85:133:0.6391:65:-100:0.1635:14,31,3,13,4,20,22,50,5,20,9,27:100:100 +12 57865321 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=GLI1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_005269.3;CSQ_HGVSc=NM_005269.3:c.2798G>A;CSQ_HGVSp=NP_005260.1:p.Gly933Asp;CSQ_HGVSg=12:g.57865321G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1240928;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8¬_provided;CSQ_gnomADg_AC=14487;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.470357;CSQ_gnomADe_AC=121971;CSQ_gnomADe_AN=244672;CSQ_gnomADe_AF=0.498508;CSQ_gnomADe_Hom=33248;CSQ_COSMICcMuts=COSV57357796&COSV57357796&COSV57357796;CSQ_COSMICncMuts=COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796&COSV57357796;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.060;CSQ_Mastermind_MMID3=GLI1:G805D&GLI1:G892D&GLI1:G933D;CSQ_CADD_PHRED=15.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,85:133:0.6391:65:-100:0.1635:14,31,3,13,4,20,22,50,5,20,9,27:100:100 +12 57865821 . G C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=GLI1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001160045.2;CSQ_HGVSc=NM_001160045.2:c.2914G>C;CSQ_HGVSp=NP_001153517.1:p.Glu972Gln;CSQ_HGVSg=12:g.57865821G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1285295;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8;CSQ_gnomADg_AC=20243;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.655792;CSQ_gnomADe_AC=99263;CSQ_gnomADe_AN=165038;CSQ_gnomADe_AF=0.601455;CSQ_gnomADe_Hom=31476;CSQ_COSMICcMuts=COSV57357806&COSV57357806&COSV57357806;CSQ_COSMICncMuts=COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.083;CSQ_Mastermind_MMID3=GLI1:E1059Q&GLI1:E1100Q&GLI1:E972Q;CSQ_CADD_PHRED=17.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,100:111:0.9009:65:-100:0.1716:19,38,15,14,1,13,22,43,15,14,2,15:100:100 +12 57865821 . G C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=GLI1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001167609.2;CSQ_HGVSc=NM_001167609.2:c.3175G>C;CSQ_HGVSp=NP_001161081.1:p.Glu1059Gln;CSQ_HGVSg=12:g.57865821G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1285295;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8;CSQ_gnomADg_AC=20243;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.655792;CSQ_gnomADe_AC=99263;CSQ_gnomADe_AN=165038;CSQ_gnomADe_AF=0.601455;CSQ_gnomADe_Hom=31476;CSQ_COSMICcMuts=COSV57357806&COSV57357806&COSV57357806;CSQ_COSMICncMuts=COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.083;CSQ_Mastermind_MMID3=GLI1:E1059Q&GLI1:E1100Q&GLI1:E972Q;CSQ_CADD_PHRED=17.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,100:111:0.9009:65:-100:0.1716:19,38,15,14,1,13,22,43,15,14,2,15:100:100 +12 57865821 . G C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=GLI1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_005269.3;CSQ_HGVSc=NM_005269.3:c.3298G>C;CSQ_HGVSp=NP_005260.1:p.Glu1100Gln;CSQ_HGVSg=12:g.57865821G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1285295;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Preaxial_hand_polydactyly&Polydactyly&_postaxial&_type_A8;CSQ_gnomADg_AC=20243;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.655792;CSQ_gnomADe_AC=99263;CSQ_gnomADe_AN=165038;CSQ_gnomADe_AF=0.601455;CSQ_gnomADe_Hom=31476;CSQ_COSMICcMuts=COSV57357806&COSV57357806&COSV57357806;CSQ_COSMICncMuts=COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806&COSV57357806;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.083;CSQ_Mastermind_MMID3=GLI1:E1059Q&GLI1:E1100Q&GLI1:E972Q;CSQ_CADD_PHRED=17.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,100:111:0.9009:65:-100:0.1716:19,38,15,14,1,13,22,43,15,14,2,15:100:100 +12 58139253 . C CA 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=CDK4;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_000075.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=12:g.58139254dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8446;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.273989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSPAN31:5UTR&TSPAN31:5UTRint&TSPAN31:5UTRintd&TSPAN31:M21int&TSPAN31:M21intd;CSQ_CADD_PHRED=4.720 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,43:124:0.34677:65:-100:0:7,15,2,11,4,4,20,42,5,28,9,19:100:100 +12 58142854 . C A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=CDK4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/7;CSQ_Feature=NM_000075.4;CSQ_HGVSc=NM_000075.4:c.819+111G>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.58142854C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1182049;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8401;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.272035;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.844 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,62:150:0.41333:65:-100:0.2063:16,19,4,11,3,9,33,49,19,21,9,19:100:100 +12 58143289 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=CDK4;CSQ_Consequence=splice_acceptor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=5/7;CSQ_Feature=NM_000075.4;CSQ_HGVSc=NM_000075.4:c.633-2A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.58143289T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714;CSQ_COSMICncMuts=COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714&COSV57275714;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.30;CSQ_SpliceAI_pred_DS_AL=0.99;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDK4:K211sa;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,24:140:0.17143:65:-100:0.1195:5,5,2,4,5,3,22,46,13,21,13,25:100:100 +12 58148146 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=CDK4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_000075.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=12:g.58148146G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000516829;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.884 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,19:141:0.13475:65:-100:0.1019:2,9,4,1,1,2,28,57,13,15,11,17:100:100 +12 58148721 . T TG 100 PASS DP=72;CSQ_Allele=G;CSQ_SYMBOL=CDK4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_000075.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=12:g.58148724dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30090;CSQ_gnomADg_AN=30092;CSQ_gnomADg_AF=0.999934;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.66 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,72:72:1:65:-100:0:7,22,16,13,5,9,7,24,16,12,5,7:100:100 +12 69214691 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.340+537G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69214691G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16778;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.543787;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=0.086 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,100:131:0.76336:65:-100:0.1438:15,26,10,18,6,25,22,36,11,20,10,32:100:100 +12 69214691 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.358+537G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69214691G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16778;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.543787;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=0.086 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,100:131:0.76336:65:-100:0.1438:15,26,10,18,6,25,22,36,11,20,10,32:100:100 +12 69214691 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.358+537G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69214691G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16778;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.543787;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=0.086 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,100:131:0.76336:65:-100:0.1438:15,26,10,18,6,25,22,36,11,20,10,32:100:100 +12 69215508 . A AAAAAC 100 PASS DP=94;CSQ_Allele=AAAAC;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.340+1369_340+1373dup;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215523_69215527dup;CSQ_HGVS_OFFSET=19;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,25:94:0.26596:65:-100:0:3,12,2,6,0,2,8,38,9,18,6,13:100:100 +12 69215508 . A AAAAAC 100 PASS DP=94;CSQ_Allele=AAAAC;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.358+1369_358+1373dup;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215523_69215527dup;CSQ_HGVS_OFFSET=19;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,25:94:0.26596:65:-100:0:3,12,2,6,0,2,8,38,9,18,6,13:100:100 +12 69215508 . A AAAAAC 100 PASS DP=94;CSQ_Allele=AAAAC;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.358+1369_358+1373dup;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215523_69215527dup;CSQ_HGVS_OFFSET=19;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.709 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,25:94:0.26596:65:-100:0:3,12,2,6,0,2,8,38,9,18,6,13:100:100 +12 69215525 . A T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.340+1371A>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215525A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=1.170 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,38:120:0.31667:65:-100:0.1667:4,13,4,9,2,6,14,44,15,26,7,14:100:100 +12 69215525 . A T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.358+1371A>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215525A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=1.170 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,38:120:0.31667:65:-100:0.1667:4,13,4,9,2,6,14,44,15,26,7,14:100:100 +12 69215525 . A T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.358+1371A>T;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215525A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=1.170 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,38:120:0.31667:65:-100:0.1667:4,13,4,9,2,6,14,44,15,26,7,14:100:100 +12 69215795 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.340+1641T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215795T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8429;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.27296;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=7.559 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,29:103:0.28155:65:-100:0.2695:6,7,4,2,2,8,25,24,11,15,10,18:100:100 +12 69215795 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.358+1641T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215795T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8429;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.27296;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=7.559 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,29:103:0.28155:65:-100:0.2695:6,7,4,2,2,8,25,24,11,15,10,18:100:100 +12 69215795 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.358+1641T>C;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69215795T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8429;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.27296;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E114int&MDM2:E114intd&MDM2:E120int&MDM2:E120intd&MDM2:E52int&MDM2:E52intd;CSQ_CADD_PHRED=7.559 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,29:103:0.28155:65:-100:0.2695:6,7,4,2,2,8,25,24,11,15,10,18:100:100 +12 69226396 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/10;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.667-3213A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69226396A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2207;CSQ_gnomADg_AN=30734;CSQ_gnomADg_AF=0.0718097;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.879 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,8:121:0.06612:65:-98.6903:0.1879:1,5,1,0,0,1,21,30,22,25,7,16:62.133:100 +12 69226396 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.520-3213A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69226396A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2207;CSQ_gnomADg_AN=30734;CSQ_gnomADg_AF=0.0718097;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.879 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,8:121:0.06612:65:-98.6903:0.1879:1,5,1,0,0,1,21,30,22,25,7,16:62.133:100 +12 69226396 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/10;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.685-3213A>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69226396A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2207;CSQ_gnomADg_AN=30734;CSQ_gnomADg_AF=0.0718097;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.879 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,8:121:0.06612:65:-98.6903:0.1879:1,5,1,0,0,1,21,30,22,25,7,16:62.133:100 +12 69230297 . T G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/10;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.682-155T>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69230297T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00781351;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683;CSQ_COSMICncMuts=COSV50700683&COSV50700683;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E104int&MDM2:E104inta&MDM2:E104intd&MDM2:E225int&MDM2:E225inta&MDM2:E274int&MDM2:E274inta&MDM2:E280int&MDM2:E280inta&MDM2:G227int&MDM2:G227inta;CSQ_CADD_PHRED=4.603 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,8:131:0.06107:65:-100:0.1382:0,6,0,1,0,1,21,43,14,20,10,23:92.304:100 +12 69230297 . T G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.676-155T>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69230297T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00781351;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683;CSQ_COSMICncMuts=COSV50700683&COSV50700683;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E104int&MDM2:E104inta&MDM2:E104intd&MDM2:E225int&MDM2:E225inta&MDM2:E274int&MDM2:E274inta&MDM2:E280int&MDM2:E280inta&MDM2:G227int&MDM2:G227inta;CSQ_CADD_PHRED=4.603 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,8:131:0.06107:65:-100:0.1382:0,6,0,1,0,1,21,43,14,20,10,23:92.304:100 +12 69230297 . T G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/10;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.841-155T>G;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69230297T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=242;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00781351;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683&COSV50700683;CSQ_COSMICncMuts=COSV50700683&COSV50700683;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:E104int&MDM2:E104inta&MDM2:E104intd&MDM2:E225int&MDM2:E225inta&MDM2:E274int&MDM2:E274inta&MDM2:E280int&MDM2:E280inta&MDM2:G227int&MDM2:G227inta;CSQ_CADD_PHRED=4.603 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,8:131:0.06107:65:-100:0.1382:0,6,0,1,0,1,21,43,14,20,10,23:92.304:100 +12 69231980 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/10;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.760-1074G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69231980G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9858;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.318926;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:A130int&MDM2:A130inta&MDM2:A251int&MDM2:A251inta&MDM2:A253int&MDM2:A253inta&MDM2:A300int&MDM2:A300inta&MDM2:A306int&MDM2:A306inta&MDM2:E104int&MDM2:E104inta;CSQ_CADD_PHRED=13.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,33:119:0.27731:65:-100:0.1377:3,10,5,9,1,5,21,37,12,21,8,20:100:100 +12 69231980 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/8;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.754-1074G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69231980G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9858;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.318926;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:A130int&MDM2:A130inta&MDM2:A251int&MDM2:A251inta&MDM2:A253int&MDM2:A253inta&MDM2:A300int&MDM2:A300inta&MDM2:A306int&MDM2:A306inta&MDM2:E104int&MDM2:E104inta;CSQ_CADD_PHRED=13.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,33:119:0.27731:65:-100:0.1377:3,10,5,9,1,5,21,37,12,21,8,20:100:100 +12 69231980 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=MDM2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/10;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.919-1074G>A;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69231980G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9858;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.318926;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MDM2:A130int&MDM2:A130inta&MDM2:A251int&MDM2:A251inta&MDM2:A253int&MDM2:A253inta&MDM2:A300int&MDM2:A300inta&MDM2:A306int&MDM2:A306inta&MDM2:E104int&MDM2:E104inta;CSQ_CADD_PHRED=13.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,33:119:0.27731:65:-100:0.1377:3,10,5,9,1,5,21,37,12,21,8,20:100:100 +12 69236314 . A ACAT 100 PASS DP=132;CSQ_Allele=CAT;CSQ_SYMBOL=MDM2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.*2687_*2688insTCA;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69236316_69236317insTCA;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2754;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.0890974;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.337 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,37:132:0.2803:65:-100:0:4,18,2,3,1,9,15,53,4,25,9,26:100:100 +12 69236314 . A ACAT 100 PASS DP=132;CSQ_Allele=CAT;CSQ_SYMBOL=MDM2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.*2687_*2688insTCA;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69236316_69236317insTCA;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2754;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.0890974;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.337 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,37:132:0.2803:65:-100:0:4,18,2,3,1,9,15,53,4,25,9,26:100:100 +12 69236314 . A ACAT 100 PASS DP=132;CSQ_Allele=CAT;CSQ_SYMBOL=MDM2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.*2687_*2688insTCA;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69236316_69236317insTCA;CSQ_HGVS_OFFSET=2;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2754;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.0890974;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.337 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,37:132:0.2803:65:-100:0:4,18,2,3,1,9,15,53,4,25,9,26:100:100 +12 69236394 . CAT C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=MDM2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001145337.3;CSQ_HGVSc=NM_001145337.3:c.*2767_*2768del;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69236396_69236397del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2764;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.0894209;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.979 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,41:127:0.32283:65:-100:0:7,15,2,5,5,7,21,39,9,23,12,25:100:100 +12 69236394 . CAT C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=MDM2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001145339.2;CSQ_HGVSc=NM_001145339.2:c.*2767_*2768del;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69236396_69236397del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2764;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.0894209;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.979 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,41:127:0.32283:65:-100:0:7,15,2,5,5,7,21,39,9,23,12,25:100:100 +12 69236394 . CAT C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=MDM2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_002392.5;CSQ_HGVSc=NM_002392.5:c.*2767_*2768del;CSQ_HGVSp=.;CSQ_HGVSg=12:g.69236396_69236397del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2764;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.0894209;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.979 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,41:127:0.32283:65:-100:0:7,15,2,5,5,7,21,39,9,23,12,25:100:100 +12 69967862 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=FRS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001042555.3;CSQ_HGVSc=NM_001042555.3:c.654G>A;CSQ_HGVSp=NP_001036020.1:p.Ala218%3D;CSQ_HGVSg=12:g.69967862G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14411;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.465953;CSQ_gnomADe_AC=119047;CSQ_gnomADe_AN=246010;CSQ_gnomADe_AF=0.483911;CSQ_gnomADe_Hom=29463;CSQ_COSMICcMuts=COSV54724147&COSV54724147&COSV54724147&COSV54724147;CSQ_COSMICncMuts=COSV54724147&COSV54724147&COSV54724147&COSV54724147&COSV54724147&COSV54724147;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FRS2:A218A;CSQ_CADD_PHRED=7.498 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,79:120:0.65833:65:-100:0.1367:13,20,9,15,5,17,22,30,17,21,8,22:100:100 +12 69967862 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=FRS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001278354.2;CSQ_HGVSc=NM_001278354.2:c.654G>A;CSQ_HGVSp=NP_001265283.1:p.Ala218%3D;CSQ_HGVSg=12:g.69967862G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14411;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.465953;CSQ_gnomADe_AC=119047;CSQ_gnomADe_AN=246010;CSQ_gnomADe_AF=0.483911;CSQ_gnomADe_Hom=29463;CSQ_COSMICcMuts=COSV54724147&COSV54724147&COSV54724147&COSV54724147;CSQ_COSMICncMuts=COSV54724147&COSV54724147&COSV54724147&COSV54724147&COSV54724147&COSV54724147;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FRS2:A218A;CSQ_CADD_PHRED=7.498 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,79:120:0.65833:65:-100:0.1367:13,20,9,15,5,17,22,30,17,21,8,22:100:100 +12 69967862 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=FRS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001278357.2;CSQ_HGVSc=NM_001278357.2:c.654G>A;CSQ_HGVSp=NP_001265286.1:p.Ala218%3D;CSQ_HGVSg=12:g.69967862G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14411;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.465953;CSQ_gnomADe_AC=119047;CSQ_gnomADe_AN=246010;CSQ_gnomADe_AF=0.483911;CSQ_gnomADe_Hom=29463;CSQ_COSMICcMuts=COSV54724147&COSV54724147&COSV54724147&COSV54724147;CSQ_COSMICncMuts=COSV54724147&COSV54724147&COSV54724147&COSV54724147&COSV54724147&COSV54724147;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FRS2:A218A;CSQ_CADD_PHRED=7.498 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,79:120:0.65833:65:-100:0.1367:13,20,9,15,5,17,22,30,17,21,8,22:100:100 +12 111884608 . T C 100 PASS DP=164;CSQ_Allele=C;CSQ_SYMBOL=SH2B3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_001291424.1;CSQ_HGVSc=NM_001291424.1:c.178T>C;CSQ_HGVSp=NP_001278353.1:p.Trp60Arg;CSQ_HGVSg=12:g.111884608T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1265448;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Myelofibrosis&Primary_familial_polycythemia_due_to_EPO_receptor_mutation&Thrombocythemia_1¬_provided;CSQ_gnomADg_AC=20860;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.675868;CSQ_gnomADe_AC=143481;CSQ_gnomADe_AN=215172;CSQ_gnomADe_AF=0.66682;CSQ_gnomADe_Hom=51895;CSQ_COSMICcMuts=COSV57981059&COSV57981059;CSQ_COSMICncMuts=COSV57981059;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=0.158;CSQ_Mastermind_MMID3=SH2B3:W262R&SH2B3:W60R;CSQ_CADD_PHRED=10.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,135:164:0.82317:65:-100:0.1414:25,51,9,21,7,22,28,60,15,24,8,29:100:100 +12 111884608 . T C 100 PASS DP=164;CSQ_Allele=C;CSQ_SYMBOL=SH2B3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_005475.3;CSQ_HGVSc=NM_005475.3:c.784T>C;CSQ_HGVSp=NP_005466.1:p.Trp262Arg;CSQ_HGVSg=12:g.111884608T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1265448;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Myelofibrosis&Primary_familial_polycythemia_due_to_EPO_receptor_mutation&Thrombocythemia_1¬_provided;CSQ_gnomADg_AC=20860;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.675868;CSQ_gnomADe_AC=143481;CSQ_gnomADe_AN=215172;CSQ_gnomADe_AF=0.66682;CSQ_gnomADe_Hom=51895;CSQ_COSMICcMuts=COSV57981059&COSV57981059;CSQ_COSMICncMuts=COSV57981059;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=0.158;CSQ_Mastermind_MMID3=SH2B3:W262R&SH2B3:W60R;CSQ_CADD_PHRED=10.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,135:164:0.82317:65:-100:0.1414:25,51,9,21,7,22,28,60,15,24,8,29:100:100 +12 111885984 . G A 100 PASS DP=192;CSQ_Allele=A;CSQ_SYMBOL=SH2B3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001291424.1;CSQ_HGVSc=NM_001291424.1:c.1000G>A;CSQ_HGVSp=NP_001278353.1:p.Ala334Thr;CSQ_HGVSg=12:g.111885984G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.000226317;CSQ_gnomADe_AC=182;CSQ_gnomADe_AN=246006;CSQ_gnomADe_AF=0.000739819;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV105909809&COSV105909809;CSQ_COSMICncMuts=COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.119;CSQ_Mastermind_MMID3=SH2B3:A334T&SH2B3:A536T;CSQ_CADD_PHRED=24.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:166,26:192:0.13542:65:-100:0.1351:5,9,3,4,2,3,34,75,14,27,15,27:100:100 +12 111885984 . G A 100 PASS DP=192;CSQ_Allele=A;CSQ_SYMBOL=SH2B3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_005475.3;CSQ_HGVSc=NM_005475.3:c.1606G>A;CSQ_HGVSp=NP_005466.1:p.Ala536Thr;CSQ_HGVSg=12:g.111885984G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.000226317;CSQ_gnomADe_AC=182;CSQ_gnomADe_AN=246006;CSQ_gnomADe_AF=0.000739819;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV105909809&COSV105909809;CSQ_COSMICncMuts=COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809&COSV105909809;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.119;CSQ_Mastermind_MMID3=SH2B3:A334T&SH2B3:A536T;CSQ_CADD_PHRED=24.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:166,26:192:0.13542:65:-100:0.1351:5,9,3,4,2,3,34,75,14,27,15,27:100:100 +12 111886019 . G A 100 PASS DP=196;CSQ_Allele=A;CSQ_SYMBOL=SH2B3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001291424.1;CSQ_HGVSc=NM_001291424.1:c.1035G>A;CSQ_HGVSp=NP_001278353.1:p.Val345%3D;CSQ_HGVSg=12:g.111886019G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57982358&COSV57982358;CSQ_COSMICncMuts=COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.633 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:180,16:196:0.08163:65:-100:0.1009:1,8,3,0,1,3,36,73,22,24,14,27:100:100 +12 111886019 . G A 100 PASS DP=196;CSQ_Allele=A;CSQ_SYMBOL=SH2B3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_005475.3;CSQ_HGVSc=NM_005475.3:c.1641G>A;CSQ_HGVSp=NP_005466.1:p.Val547%3D;CSQ_HGVSg=12:g.111886019G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57982358&COSV57982358;CSQ_COSMICncMuts=COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358&COSV57982358;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.633 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:180,16:196:0.08163:65:-100:0.1009:1,8,3,0,1,3,36,73,22,24,14,27:100:100 +12 112891125 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=PTPN11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/16;CSQ_INTRON=.;CSQ_Feature=NM_002834.5;CSQ_HGVSc=NM_002834.5:c.459T>C;CSQ_HGVSp=NP_002825.3:p.Thr153%3D;CSQ_HGVSg=12:g.112891125T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.651 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,10:153:0.06536:65:-100:0.1307:2,2,2,2,1,1,27,60,12,16,11,27:100:100 +12 112891125 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=PTPN11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_080601.3;CSQ_HGVSc=NM_080601.3:c.459T>C;CSQ_HGVSp=NP_542168.1:p.Thr153%3D;CSQ_HGVSg=12:g.112891125T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.651 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,10:153:0.06536:65:-100:0.1307:2,2,2,2,1,1,27,60,12,16,11,27:100:100 +12 115114128 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=TBX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_005996.4;CSQ_HGVSc=NM_005996.4:c.1029G>A;CSQ_HGVSp=NP_005987.3:p.Ser343%3D;CSQ_HGVSg=12:g.115114128C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=771277;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=3.22914e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246256;CSQ_gnomADe_AF=8.12163e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV57470444&COSV57470444;CSQ_COSMICncMuts=COSV57470444&COSV57470444;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.620 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,12:159:0.07547:65:-100:0.1405:1,3,2,2,2,2,21,52,20,28,14,24:100:100 +12 115114128 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=TBX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_016569.4;CSQ_HGVSc=NM_016569.4:c.1089G>A;CSQ_HGVSp=NP_057653.3:p.Ser363%3D;CSQ_HGVSg=12:g.115114128C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=771277;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=3.22914e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246256;CSQ_gnomADe_AF=8.12163e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV57470444&COSV57470444;CSQ_COSMICncMuts=COSV57470444&COSV57470444;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.620 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,12:159:0.07547:65:-100:0.1405:1,3,2,2,2,2,21,52,20,28,14,24:100:100 +12 120535169 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=RAB35;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_001167606.2;CSQ_HGVSc=NM_001167606.2:c.361C>T;CSQ_HGVSp=NP_001161078.1:p.Leu121%3D;CSQ_HGVSg=12:g.120535169G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3215;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.103918;CSQ_gnomADe_AC=15537;CSQ_gnomADe_AN=245156;CSQ_gnomADe_AF=0.063376;CSQ_gnomADe_Hom=774;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAB35:L121L&RAB35:N162N;CSQ_CADD_PHRED=11.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,22:141:0.15603:65:-100:0.1188:1,8,5,5,1,2,20,59,15,26,7,14:100:100 +12 120535169 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=RAB35;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_006861.7;CSQ_HGVSc=NM_006861.7:c.486C>T;CSQ_HGVSp=NP_006852.1:p.Asn162%3D;CSQ_HGVSg=12:g.120535169G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3215;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.103918;CSQ_gnomADe_AC=15537;CSQ_gnomADe_AN=245156;CSQ_gnomADe_AF=0.063376;CSQ_gnomADe_Hom=774;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAB35:L121L&RAB35:N162N;CSQ_CADD_PHRED=11.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,22:141:0.15603:65:-100:0.1188:1,8,5,5,1,2,20,59,15,26,7,14:100:100 +12 120536947 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=RAB35;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/5;CSQ_INTRON=.;CSQ_Feature=NM_001167606.2;CSQ_HGVSc=NM_001167606.2:c.239G>A;CSQ_HGVSp=NP_001161078.1:p.Gly80Glu;CSQ_HGVSg=12:g.120536947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57567081&COSV57567081;CSQ_COSMICncMuts=COSV57567081&COSV57567081&COSV57567081;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=0.931;CSQ_Mastermind_MMID3=RAB35:G80E;CSQ_CADD_PHRED=29.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,8:152:0.05263:65:-97.0235:0.1461:2,3,0,2,1,0,20,48,19,18,16,31:81.047:100 +12 120536947 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=RAB35;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_006861.7;CSQ_HGVSc=NM_006861.7:c.239G>A;CSQ_HGVSp=NP_006852.1:p.Gly80Glu;CSQ_HGVSg=12:g.120536947C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57567081&COSV57567081;CSQ_COSMICncMuts=COSV57567081&COSV57567081&COSV57567081;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=0.931;CSQ_Mastermind_MMID3=RAB35:G80E;CSQ_CADD_PHRED=29.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,8:152:0.05263:65:-97.0235:0.1461:2,3,0,2,1,0,20,48,19,18,16,31:81.047:100 +12 120546245 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=RAB35;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/5;CSQ_INTRON=.;CSQ_Feature=NM_001167606.2;CSQ_HGVSc=NM_001167606.2:c.79C>T;CSQ_HGVSp=NP_001161078.1:p.Arg27Cys;CSQ_HGVSg=12:g.120546245G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57567089&COSV57567089;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.907;CSQ_Mastermind_MMID3=RAB35:R27C;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.227:2,5,1,0,0,1,26,40,9,14,6,14:100:100 +12 120546245 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=RAB35;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_006861.7;CSQ_HGVSc=NM_006861.7:c.79C>T;CSQ_HGVSp=NP_006852.1:p.Arg27Cys;CSQ_HGVSg=12:g.120546245G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57567089&COSV57567089;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.907;CSQ_Mastermind_MMID3=RAB35:R27C;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,9:109:0.08257:65:-100:0.227:2,5,1,0,0,1,26,40,9,14,6,14:100:100 +12 121416622 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=HNF1A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/10;CSQ_INTRON=.;CSQ_Feature=NM_000545.8;CSQ_HGVSc=NM_000545.8:c.51C>G;CSQ_HGVSp=NP_000536.6:p.Leu17%3D;CSQ_HGVSg=12:g.121416622C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=129234;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(7)&Likely_benign(1);CSQ_ClinVar_CLNDN=Maturity_onset_diabetes_mellitus_in_young&Type_2_diabetes_mellitus&Maturity-onset_diabetes_of_the_young_type_3¬_specified¬_provided;CSQ_gnomADg_AC=13088;CSQ_gnomADg_AN=30774;CSQ_gnomADg_AF=0.425294;CSQ_gnomADe_AC=114359;CSQ_gnomADe_AN=243206;CSQ_gnomADe_AF=0.470215;CSQ_gnomADe_Hom=27609;CSQ_COSMICcMuts=COSV57459740&COSV57459740&COSV57459740&COSV57459740&COSV57459740&COSV57459740&COSV57459740;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HNF1A:L17L;CSQ_CADD_PHRED=1.692 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,107:150:0.71333:65:-100:0.0964:16,44,8,13,10,16,24,54,15,20,18,19:100:100 +12 121416650 . A C 100 PASS DP=158;CSQ_Allele=C;CSQ_SYMBOL=HNF1A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/10;CSQ_INTRON=.;CSQ_Feature=NM_000545.8;CSQ_HGVSc=NM_000545.8:c.79A>C;CSQ_HGVSp=NP_000536.6:p.Ile27Leu;CSQ_HGVSg=12:g.121416650A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=14937;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Likely_pathogenic(1)&Benign(10);CSQ_ClinVar_CLNDN=SERUM_HDL_CHOLESTEROL_LEVEL&_MODIFIER_OF&Maturity_onset_diabetes_mellitus_in_young&Type_2_diabetes_mellitus&Maturity-onset_diabetes_of_the_young_type_3&Insulin_resistance&_susceptibility_to¬_specified¬_provided;CSQ_gnomADg_AC=8987;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.292355;CSQ_gnomADe_AC=86832;CSQ_gnomADe_AN=244048;CSQ_gnomADe_AF=0.355799;CSQ_gnomADe_Hom=16342;CSQ_COSMICcMuts=COSV57459307&COSV57459307&COSV57459307&COSV57459307&COSV57459307&COSV57459307&COSV57459307;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=0.471;CSQ_Mastermind_MMID3=HNF1A:I27L;CSQ_CADD_PHRED=23.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,68:158:0.43038:65:-100:0.1124:11,24,6,9,8,10,22,58,16,22,16,24:100:100 +12 121434366 . TC T 100 PASS DP=85;CSQ_Allele=-;CSQ_SYMBOL=HNF1A;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_000545.8;CSQ_HGVSc=NM_000545.8:c.1136del;CSQ_HGVSp=NP_000536.6:p.Pro379LeufsTer5;CSQ_HGVSg=12:g.121434372del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=802897;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Maturity_onset_diabetes_mellitus_in_young&Maturity-onset_diabetes_of_the_young_type_3;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57459295&COSV57459295&COSV57459295&COSV57459295&COSV57459295&COSV57459295&COSV57459295;CSQ_COSMICncMuts=COSV57459295;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.09;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,6:85:0.07059:65:-100:0:1,2,0,0,1,2,7,33,7,14,7,17:64.467:100 +12 121435342 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=HNF1A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_000545.8;CSQ_HGVSc=NM_000545.8:c.1375C>T;CSQ_HGVSp=NP_000536.6:p.Leu459%3D;CSQ_HGVSg=12:g.121435342C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=129229;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Maturity_onset_diabetes_mellitus_in_young&Type_2_diabetes_mellitus&Maturity-onset_diabetes_of_the_young_type_3¬_specified¬_provided;CSQ_gnomADg_AC=8272;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.26791;CSQ_gnomADe_AC=82812;CSQ_gnomADe_AN=244562;CSQ_gnomADe_AF=0.338614;CSQ_gnomADe_Hom=14889;CSQ_COSMICcMuts=COSV57459043&COSV57459043&COSV57459043&COSV57459043&COSV57459043&COSV57459043;CSQ_COSMICncMuts=COSV57459043&COSV57459043&COSV57459043;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HNF1A:L459L;CSQ_CADD_PHRED=12.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,79:146:0.5411:65:-100:0.131:10,34,7,14,7,7,17,59,9,30,12,19:100:100 +12 121435427 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=HNF1A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_000545.8;CSQ_HGVSc=NM_000545.8:c.1460G>A;CSQ_HGVSp=NP_000536.6:p.Ser487Asn;CSQ_HGVSg=12:g.121435427G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=129230;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Maturity_onset_diabetes_mellitus_in_young&Type_2_diabetes_mellitus&Maturity-onset_diabetes_of_the_young_type_3¬_specified¬_provided;CSQ_gnomADg_AC=8294;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.268206;CSQ_gnomADe_AC=82036;CSQ_gnomADe_AN=242836;CSQ_gnomADe_AF=0.337825;CSQ_gnomADe_Hom=14604;CSQ_COSMICcMuts=COSV57459963&COSV57459963&COSV57459963&COSV57459963&COSV57459963&COSV57459963;CSQ_COSMICncMuts=COSV57459963&COSV57459963&COSV57459963;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.352;CSQ_Mastermind_MMID3=HNF1A:S487N;CSQ_CADD_PHRED=19.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,57:117:0.48718:65:-100:0.2148:8,22,3,10,4,10,12,43,4,29,8,21:100:100 +12 121437114 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=HNF1A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_000545.8;CSQ_HGVSc=NM_000545.8:c.1545G>A;CSQ_HGVSp=NP_000536.6:p.Thr515%3D;CSQ_HGVSg=12:g.121437114G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=129232;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(6);CSQ_ClinVar_CLNDN=Insulin-resistant_diabetes_mellitus&Maturity_onset_diabetes_mellitus_in_young&Maturity-onset_diabetes_of_the_young_type_3¬_specified¬_provided;CSQ_gnomADg_AC=4235;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.137322;CSQ_gnomADe_AC=34503;CSQ_gnomADe_AN=246004;CSQ_gnomADe_AF=0.140254;CSQ_gnomADe_Hom=3188;CSQ_COSMICcMuts=COSV56566403&COSV56566403&COSV56566403;CSQ_COSMICncMuts=COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403&COSV56566403;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HNF1A:T515T;CSQ_CADD_PHRED=8.383 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,25:159:0.15723:65:-100:0.1215:6,9,2,5,1,2,31,53,20,26,11,18:100:100 +12 121437382 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=HNF1A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_000545.8;CSQ_HGVSc=NM_000545.8:c.1720A>G;CSQ_HGVSp=NP_000536.6:p.Ser574Gly;CSQ_HGVSg=12:g.121437382A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=36810;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Reduced_delayed_hypersensitivity&Breast_carcinoma&Maturity_onset_diabetes_mellitus_in_young&Type_2_diabetes_mellitus&Symphalangism_affecting_the_proximal_phalanx_of_the_4th_finger&Diabetes_mellitus_type_1&Hepatic_adenomas&_familial&Nonpapillary_renal_cell_carcinoma&Maturity-onset_diabetes_of_the_young_type_3&Type_1_diabetes_mellitus_20&Monogenic_diabetes¬_specified¬_provided;CSQ_gnomADg_AC=30545;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.986978;CSQ_gnomADe_AC=238065;CSQ_gnomADe_AN=238878;CSQ_gnomADe_AF=0.996597;CSQ_gnomADe_Hom=118646;CSQ_COSMICcMuts=COSV56568164&COSV56568164&COSV56568164;CSQ_COSMICncMuts=COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164&COSV56568164;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=0.157;CSQ_Mastermind_MMID3=HNF1A:S574G&HNF1A:S581G;CSQ_CADD_PHRED=9.746 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,113:113:1:65:-100:0.2467:27,38,10,8,10,20,27,38,10,8,10,20:100:100 +12 133208979 . T C 100 PASS DP=170;CSQ_Allele=C;CSQ_SYMBOL=POLE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=45/49;CSQ_INTRON=.;CSQ_Feature=NM_006231.4;CSQ_HGVSc=NM_006231.4:c.6252A>G;CSQ_HGVSp=NP_006222.2:p.Ser2084%3D;CSQ_HGVSg=12:g.133208979T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380217;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_12&Facial_dysmorphism-immunodeficiency-livedo-short_stature_syndrome&Hereditary_cancer-predisposing_syndrome&Intrauterine_growth_retardation&_metaphyseal_dysplasia&_adrenal_hypoplasia_congenita&_genital_anomalies&_and_immunodeficiency¬_specified¬_provided;CSQ_gnomADg_AC=20232;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.654588;CSQ_gnomADe_AC=158088;CSQ_gnomADe_AN=246176;CSQ_gnomADe_AF=0.642175;CSQ_gnomADe_Hom=51967;CSQ_COSMICcMuts=COSV105207645&COSV105207645;CSQ_COSMICncMuts=COSV105207645&COSV105207645&COSV105207645&COSV105207645;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.09;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLE:S2084S;CSQ_CADD_PHRED=0.837 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,115:170:0.67647:65:-100:0.1053:13,41,11,17,12,21,23,57,18,27,14,31:100:100 +12 133212582 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=POLE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=42/49;CSQ_INTRON=.;CSQ_Feature=NM_006231.4;CSQ_HGVSc=NM_006231.4:c.5707C>T;CSQ_HGVSp=NP_006222.2:p.Leu1903%3D;CSQ_HGVSg=12:g.133212582G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380216;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_12&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=4678;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.151264;CSQ_gnomADe_AC=38022;CSQ_gnomADe_AN=245832;CSQ_gnomADe_AF=0.154667;CSQ_gnomADe_Hom=3129;CSQ_COSMICcMuts=COSV105207326&COSV105207326;CSQ_COSMICncMuts=COSV105207326&COSV105207326&COSV105207326&COSV105207326&COSV105207326;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLE:L1903L;CSQ_CADD_PHRED=2.321 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,8:169:0.04734:65:-94.5248:0.1244:2,2,1,1,0,2,32,63,15,22,10,27:97.519:100 +12 133219831 . T C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=POLE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=35/49;CSQ_INTRON=.;CSQ_Feature=NM_006231.4;CSQ_HGVSc=NM_006231.4:c.4530A>G;CSQ_HGVSp=NP_006222.2:p.Ala1510%3D;CSQ_HGVSg=12:g.133219831T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380214;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_12&Facial_dysmorphism-immunodeficiency-livedo-short_stature_syndrome&Hereditary_cancer-predisposing_syndrome&Intrauterine_growth_retardation&_metaphyseal_dysplasia&_adrenal_hypoplasia_congenita&_genital_anomalies&_and_immunodeficiency¬_specified¬_provided;CSQ_gnomADg_AC=16346;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.5291;CSQ_gnomADe_AC=121301;CSQ_gnomADe_AN=241288;CSQ_gnomADe_AF=0.502723;CSQ_gnomADe_Hom=31845;CSQ_COSMICcMuts=COSV57686501&COSV57686501;CSQ_COSMICncMuts=COSV57686501&COSV57686501&COSV57686501;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLE:A1510A;CSQ_CADD_PHRED=0.611 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,70:129:0.54264:65:-100:0.2367:13,25,6,15,4,7,22,47,10,26,8,16:100:100 +12 133220526 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=POLE;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=33/49;CSQ_INTRON=.;CSQ_Feature=NM_006231.4;CSQ_HGVSc=NM_006231.4:c.4187A>G;CSQ_HGVSp=NP_006222.2:p.Asn1396Ser;CSQ_HGVSg=12:g.133220526T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380215;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_12&Facial_dysmorphism-immunodeficiency-livedo-short_stature_syndrome&Hereditary_cancer-predisposing_syndrome&Intrauterine_growth_retardation&_metaphyseal_dysplasia&_adrenal_hypoplasia_congenita&_genital_anomalies&_and_immunodeficiency¬_specified¬_provided;CSQ_gnomADg_AC=3560;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.115143;CSQ_gnomADe_AC=28328;CSQ_gnomADe_AN=246110;CSQ_gnomADe_AF=0.115103;CSQ_gnomADe_Hom=2012;CSQ_COSMICcMuts=COSV57680345&COSV57680345;CSQ_COSMICncMuts=COSV57680345&COSV57680345&COSV57680345&COSV57680345&COSV57680345;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=0.067;CSQ_Mastermind_MMID3=POLE:N1396S;CSQ_CADD_PHRED=23.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,8:167:0.0479:65:-95.0578:0.1608:1,4,0,2,1,0,30,59,14,24,9,31:100:100 +12 133236000 . C T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=POLE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=26/49;CSQ_INTRON=.;CSQ_Feature=NM_006231.4;CSQ_HGVSc=NM_006231.4:c.3156G>A;CSQ_HGVSp=NP_006222.2:p.Thr1052%3D;CSQ_HGVSg=12:g.133236000C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380212;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_12&Facial_dysmorphism-immunodeficiency-livedo-short_stature_syndrome&Hereditary_cancer-predisposing_syndrome&Intrauterine_growth_retardation&_metaphyseal_dysplasia&_adrenal_hypoplasia_congenita&_genital_anomalies&_and_immunodeficiency¬_specified¬_provided;CSQ_gnomADg_AC=16375;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.52997;CSQ_gnomADe_AC=123567;CSQ_gnomADe_AN=246186;CSQ_gnomADe_AF=0.501925;CSQ_gnomADe_Hom=32434;CSQ_COSMICcMuts=COSV105207436&COSV105207436;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLE:T1052T;CSQ_CADD_PHRED=0.669 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,116:183:0.63388:65:-100:0.1117:17,45,12,21,9,12,24,69,16,37,14,23:100:100 +12 133237632 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=POLE;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=25/49;CSQ_INTRON=.;CSQ_Feature=NM_006231.4;CSQ_HGVSc=NM_006231.4:c.2983A>G;CSQ_HGVSp=NP_006222.2:p.Lys995Glu;CSQ_HGVSg=12:g.133237632T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57675012&COSV57675012;CSQ_COSMICncMuts=COSV57675012;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.156;CSQ_Mastermind_MMID3=POLE:K995E;CSQ_CADD_PHRED=23.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,14:168:0.08333:65:-100:0.1558:1,8,2,2,0,1,27,65,15,28,11,22:100:100 +12 133240967 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=POLE;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/49;CSQ_INTRON=.;CSQ_Feature=NM_006231.4;CSQ_HGVSc=NM_006231.4:c.2550C>T;CSQ_HGVSp=NP_006222.2:p.Ile850%3D;CSQ_HGVSg=12:g.133240967G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=221167;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_12&Facial_dysmorphism-immunodeficiency-livedo-short_stature_syndrome&Hereditary_cancer-predisposing_syndrome&Intrauterine_growth_retardation&_metaphyseal_dysplasia&_adrenal_hypoplasia_congenita&_genital_anomalies&_and_immunodeficiency¬_specified¬_provided;CSQ_gnomADg_AC=454;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0146793;CSQ_gnomADe_AC=850;CSQ_gnomADe_AN=246064;CSQ_gnomADe_AF=0.00345439;CSQ_gnomADe_Hom=18;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLE:I850I;CSQ_CADD_PHRED=7.958 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,14:154:0.09091:65:-100:0.1895:3,1,2,3,4,1,26,60,13,21,20,14:100:100 +13 21562213 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=LATS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_014572.3;CSQ_HGVSc=NM_014572.3:c.1706A>G;CSQ_HGVSp=NP_055387.2:p.Asp569Gly;CSQ_HGVSg=13:g.21562213T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66873786&COSV66873786;CSQ_COSMICncMuts=COSV66873786;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.362;CSQ_Mastermind_MMID3=LATS2:D569G;CSQ_CADD_PHRED=26.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,20:136:0.14706:65:-100:0.1053:4,6,1,2,1,6,29,43,11,24,7,22:100:100 +13 21562832 . C T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=LATS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_014572.3;CSQ_HGVSc=NM_014572.3:c.1087G>A;CSQ_HGVSp=NP_055387.2:p.Gly363Ser;CSQ_HGVSg=13:g.21562832C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25340;CSQ_gnomADg_AN=30756;CSQ_gnomADg_AF=0.823904;CSQ_gnomADe_AC=176935;CSQ_gnomADe_AN=201164;CSQ_gnomADe_AF=0.879556;CSQ_gnomADe_Hom=78310;CSQ_COSMICcMuts=COSV66873754&COSV66873754;CSQ_COSMICncMuts=COSV66873754;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.107;CSQ_Mastermind_MMID3=LATS2:G363S;CSQ_CADD_PHRED=3.009 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,72:101:0.71287:65:-100:0.0901:15,16,15,11,7,8,28,21,19,11,10,12:100:100 +13 21562948 . G A 100 PASS DP=78;CSQ_Allele=A;CSQ_SYMBOL=LATS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_014572.3;CSQ_HGVSc=NM_014572.3:c.971C>T;CSQ_HGVSp=NP_055387.2:p.Ala324Val;CSQ_HGVSg=13:g.21562948G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21487;CSQ_gnomADg_AN=30764;CSQ_gnomADg_AF=0.698446;CSQ_gnomADe_AC=161486;CSQ_gnomADe_AN=222248;CSQ_gnomADe_AF=0.726603;CSQ_gnomADe_Hom=60086;CSQ_COSMICcMuts=COSV66874560&COSV66874560;CSQ_COSMICncMuts=COSV66874560;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.192;CSQ_Mastermind_MMID3=LATS2:A324V;CSQ_CADD_PHRED=17.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:22,56:78:0.71795:65:-100:0.1136:15,12,4,9,9,7,23,19,4,10,12,10:100:100 +13 21563311 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=LATS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/8;CSQ_INTRON=.;CSQ_Feature=NM_014572.3;CSQ_HGVSc=NM_014572.3:c.608C>T;CSQ_HGVSp=NP_055387.2:p.Ala203Val;CSQ_HGVSg=13:g.21563311G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=444;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.0143615;CSQ_gnomADe_AC=4825;CSQ_gnomADe_AN=243752;CSQ_gnomADe_AF=0.0197947;CSQ_gnomADe_Hom=69;CSQ_COSMICcMuts=COSV66876947&COSV66876947;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.041;CSQ_Mastermind_MMID3=LATS2:A203V;CSQ_CADD_PHRED=10.34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,19:132:0.14394:65:-100:0.1646:2,7,2,4,1,3,24,45,8,20,10,25:100:100 +13 21620085 . T C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=LATS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_014572.3;CSQ_HGVSc=NM_014572.3:c.81A>G;CSQ_HGVSp=NP_055387.2:p.Lys27%3D;CSQ_HGVSg=13:g.21620085T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25126;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.814193;CSQ_gnomADe_AC=209847;CSQ_gnomADe_AN=245910;CSQ_gnomADe_AF=0.853349;CSQ_gnomADe_Hom=90152;CSQ_COSMICcMuts=COSV66880211&COSV66880211;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LATS2:K27K;CSQ_CADD_PHRED=8.943 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,112:124:0.90323:65:-100:0.1507:19,32,10,23,11,17,21,37,10,25,12,19:100:100 +13 22267116 . G C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=FGF9;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002010.3;CSQ_HGVSc=NM_002010.3:c.382-8213G>C;CSQ_HGVSp=.;CSQ_HGVSg=13:g.22267116G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.761 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,7:100:0.07:65:-100:0.1379:0,2,1,0,4,0,12,39,9,11,10,19:86.563:100 +13 22267137 . C A 100 PASS DP=104;CSQ_Allele=A;CSQ_SYMBOL=FGF9;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002010.3;CSQ_HGVSc=NM_002010.3:c.382-8192C>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.22267137C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23949;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.773896;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF9:S127int&FGF9:S127inta;CSQ_CADD_PHRED=1.613 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:33,71:104:0.68269:65:-100:0.1811:11,23,9,7,10,11,14,38,13,8,12,19:100:100 +13 22273290 . C T 100 PASS DP=87;CSQ_Allele=T;CSQ_SYMBOL=FGF9;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002010.3;CSQ_HGVSc=NM_002010.3:c.382-2039C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.22273290C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21854;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.707387;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF9:S127int&FGF9:S127inta;CSQ_CADD_PHRED=0.528 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,69:87:0.7931:65:-100:0.2091:15,25,8,8,7,6,18,30,11,10,9,9:100:100 +13 22274316 . G C 100 PASS DP=95;CSQ_Allele=C;CSQ_SYMBOL=FGF9;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_002010.3;CSQ_HGVSc=NM_002010.3:c.382-1013G>C;CSQ_HGVSp=.;CSQ_HGVSg=13:g.22274316G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26320;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.851504;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF9:S127int&FGF9:S127inta;CSQ_CADD_PHRED=0.200 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,80:95:0.84211:65:-100:0.181:14,30,7,10,5,14,17,34,10,13,6,15:100:100 +13 22275394 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=FGF9;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_002010.3;CSQ_HGVSc=NM_002010.3:c.447A>G;CSQ_HGVSp=NP_002001.1:p.Ser149%3D;CSQ_HGVSg=13:g.22275394A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=311424;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_synostoses_syndrome_3¬_specified¬_provided;CSQ_gnomADg_AC=24308;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.78626;CSQ_gnomADe_AC=208593;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.847422;CSQ_gnomADe_Hom=89043;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF9:S149S;CSQ_CADD_PHRED=10.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,87:126:0.69048:65:-100:0.1189:10,36,8,10,6,17,14,50,10,18,9,25:100:100 +13 22275504 . AT A 100 PASS DP=143;CSQ_Allele=-;CSQ_SYMBOL=FGF9;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_002010.3;CSQ_HGVSc=NM_002010.3:c.563del;CSQ_HGVSp=NP_002001.1:p.Leu188TyrfsTer18;CSQ_HGVSg=13:g.22275510del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66644194;CSQ_COSMICncMuts=COSV66644194;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,14:143:0.0979:65:-100:0:2,6,1,1,1,3,17,46,12,19,17,32:100:100 +13 22278137 . G C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=FGF9;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=3/3;CSQ_INTRON=.;CSQ_Feature=NM_002010.3;CSQ_HGVSc=NM_002010.3:c.*2563G>C;CSQ_HGVSp=.;CSQ_HGVSg=13:g.22278137G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=311470;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_synostoses_syndrome_3;CSQ_gnomADg_AC=6425;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.208225;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF9:3UTR;CSQ_CADD_PHRED=0.165 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,22:119:0.18487:65:-100:0.0985:5,8,1,2,2,4,24,47,5,16,4,23:100:100 +13 28578214 . GGA G 100 PASS DP=143;CSQ_Allele=-;CSQ_SYMBOL=FLT3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=24/24;CSQ_INTRON=.;CSQ_Feature=NM_004119.3;CSQ_HGVSc=NM_004119.3:c.2955_2956del;CSQ_HGVSp=NP_004110.2:p.Pro986AlafsTer27;CSQ_HGVSg=13:g.28578220_28578221del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54042810&COSV54042810&COSV54042810;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT3:P986fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,9:143:0.06294:65:-100:0:2,2,2,2,1,0,17,48,20,29,8,21:93.604:100 +13 28624294 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=FLT3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/24;CSQ_INTRON=.;CSQ_Feature=NM_004119.3;CSQ_HGVSc=NM_004119.3:c.680C>T;CSQ_HGVSp=NP_004110.2:p.Thr227Met;CSQ_HGVSg=13:g.28624294G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134447;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=16802;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.543508;CSQ_gnomADe_AC=148966;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=0.605189;CSQ_gnomADe_Hom=46008;CSQ_COSMICcMuts=COSV54042452&COSV54042452&COSV54042452;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=0.264;CSQ_Mastermind_MMID3=FLT3:T227M;CSQ_CADD_PHRED=21.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,68:133:0.51128:65:-100:0.1419:11,21,4,16,5,11,25,45,13,25,8,17:100:100 +13 28626706 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=FLT3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/24;CSQ_INTRON=.;CSQ_Feature=NM_004119.3;CSQ_HGVSc=NM_004119.3:c.590T>C;CSQ_HGVSp=NP_004110.2:p.Val197Ala;CSQ_HGVSg=13:g.28626706A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54049455&COSV54049455&COSV54049455;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=0.154;CSQ_Mastermind_MMID3=FLT3:V197A;CSQ_CADD_PHRED=16.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,10:150:0.06667:65:-100:0.1713:1,4,1,0,1,3,24,55,22,14,12,23:100:100 +13 28636084 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=FLT3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/24;CSQ_INTRON=.;CSQ_Feature=NM_004119.3;CSQ_HGVSc=NM_004119.3:c.288C>T;CSQ_HGVSp=NP_004110.2:p.Asp96%3D;CSQ_HGVSg=13:g.28636084G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1280165;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=29888;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.966186;CSQ_gnomADe_AC=242440;CSQ_gnomADe_AN=246116;CSQ_gnomADe_AF=0.985064;CSQ_gnomADe_Hom=119469;CSQ_COSMICcMuts=COSV54043799&COSV54043799&COSV54043799;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT3:D96D;CSQ_CADD_PHRED=1.629 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,113:121:0.93388:65:-100:0.1357:15,45,7,20,8,18,15,49,8,21,8,20:100:100 +13 28883061 . G A 100 PASS DP=98;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=28/30;CSQ_INTRON=.;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.3639C>T;CSQ_HGVSp=NP_002010.2:p.Tyr1213%3D;CSQ_HGVSg=13:g.28883061G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21022;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.679796;CSQ_gnomADe_AC=198012;CSQ_gnomADe_AN=246120;CSQ_gnomADe_AF=0.804534;CSQ_gnomADe_Hom=81945;CSQ_COSMICcMuts=COSV56717614&COSV56717614&COSV56717614;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:Y1213Y;CSQ_CADD_PHRED=1.520 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,83:98:0.84694:65:-100:0.1091:13,26,9,13,7,15,16,28,11,16,9,18:100:100 +13 28885810 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=27/30;CSQ_INTRON=.;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.3552C>T;CSQ_HGVSp=NP_002010.2:p.Tyr1184%3D;CSQ_HGVSg=13:g.28885810G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=775340;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=64;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00206745;CSQ_gnomADe_AC=426;CSQ_gnomADe_AN=246158;CSQ_gnomADe_AF=0.0017306;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56744641&COSV56744641&COSV56744641;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:Y1184Y;CSQ_CADD_PHRED=7.685 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,12:109:0.11009:65:-100:0.1615:1,5,3,2,0,1,13,35,17,18,11,15:100:100 +13 28893642 . A G 100 PASS DP=128;CSQ_Allele=G;CSQ_SYMBOL=FLT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/30;CSQ_INTRON=.;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.3204T>C;CSQ_HGVSp=NP_002010.2:p.Pro1068%3D;CSQ_HGVSg=13:g.28893642A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=162072;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon¬_provided;CSQ_gnomADg_AC=6158;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.199056;CSQ_gnomADe_AC=50615;CSQ_gnomADe_AN=245484;CSQ_gnomADe_AF=0.206185;CSQ_gnomADe_Hom=6288;CSQ_COSMICcMuts=COSV56721986&COSV56721986&COSV56721986;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:P1068P;CSQ_CADD_PHRED=7.695 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,7:128:0.05469:65:-47.84:0.0922:0,4,1,1,0,1,21,40,15,16,12,24:77.947:100 +13 28895620 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.3154G>A;CSQ_HGVSp=NP_002010.2:p.Asp1052Asn;CSQ_HGVSg=13:g.28895620C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=2.03105e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56718211&COSV56718211&COSV56718211;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.438;CSQ_Mastermind_MMID3=FLT1:D1052N;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,9:146:0.06164:65:-100:0.1412:0,3,1,4,0,1,32,46,14,21,12,21:100:100 +13 28903792 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/30;CSQ_INTRON=.;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.2667G>A;CSQ_HGVSp=NP_002010.2:p.Leu889%3D;CSQ_HGVSg=13:g.28903792C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.21;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,11:130:0.08462:65:-100:0.1391:3,3,2,1,1,1,16,51,7,23,10,23:100:100 +13 28942450 . T C 100 PASS DP=30;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.*265A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28942450T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29455;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.952805;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.886 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,22:30:0.73333:65:-100:0.5455:0,8,4,4,3,3,1,9,5,5,6,4:100:100 +13 28942450 . T C 100 PASS DP=30;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.2117-10628A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28942450T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29455;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.952805;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:G706int&FLT1:G706inta;CSQ_CADD_PHRED=1.886 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,22:30:0.73333:65:-100:0.5455:0,8,4,4,3,3,1,9,5,5,6,4:100:100 +13 28960468 . A C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*3370T>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28960468A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30095;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.971747;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.049 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,100:100:1:65:-100:0.115:14,42,7,15,12,10,14,42,7,15,12,10:100:100 +13 28960468 . A C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1970-1300T>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28960468A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30095;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.971747;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657inta;CSQ_CADD_PHRED=5.049 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,100:100:1:65:-100:0.115:14,42,7,15,12,10,14,42,7,15,12,10:100:100 +13 28960468 . A C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1970-1300T>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28960468A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30095;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.971747;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657inta;CSQ_CADD_PHRED=5.049 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,100:100:1:65:-100:0.115:14,42,7,15,12,10,14,42,7,15,12,10:100:100 +13 28960593 . T A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*3245A>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28960593T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13143;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.425781;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,45:110:0.40909:65:-100:0.1057:5,14,1,15,6,4,13,35,5,28,13,16:100:100 +13 28960593 . T A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1970-1425A>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28960593T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13143;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.425781;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657inta;CSQ_CADD_PHRED=16.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,45:110:0.40909:65:-100:0.1057:5,14,1,15,6,4,13,35,5,28,13,16:100:100 +13 28960593 . T A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1970-1425A>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28960593T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=13143;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.425781;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657inta;CSQ_CADD_PHRED=16.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,45:110:0.40909:65:-100:0.1057:5,14,1,15,6,4,13,35,5,28,13,16:100:100 +13 28961652 . G T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*2186C>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28961652G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1244;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.0402407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,15:104:0.14423:65:-100:0.1811:0,4,1,3,2,5,15,41,5,17,8,18:100:100 +13 28961652 . G T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+2281C>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28961652G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1244;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.0402407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,15:104:0.14423:65:-100:0.1811:0,4,1,3,2,5,15,41,5,17,8,18:100:100 +13 28961652 . G T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+2281C>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28961652G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1244;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.0402407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,15:104:0.14423:65:-100:0.1811:0,4,1,3,2,5,15,41,5,17,8,18:100:100 +13 28961839 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*1999G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28961839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,82:90:0.91111:65:-100:0.2105:10,15,8,18,10,21,11,17,11,18,10,23:100:100 +13 28961839 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+2094G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28961839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,82:90:0.91111:65:-100:0.2105:10,15,8,18,10,21,11,17,11,18,10,23:100:100 +13 28961839 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+2094G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28961839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.010 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,82:90:0.91111:65:-100:0.2105:10,15,8,18,10,21,11,17,11,18,10,23:100:100 +13 28962435 . C A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*1403G>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962435C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,16:124:0.12903:65:-100:0.1268:2,7,2,2,2,1,16,41,16,25,8,18:100:100 +13 28962435 . C A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+1498G>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962435C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,16:124:0.12903:65:-100:0.1268:2,7,2,2,2,1,16,41,16,25,8,18:100:100 +13 28962435 . C A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+1498G>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962435C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,16:124:0.12903:65:-100:0.1268:2,7,2,2,2,1,16,41,16,25,8,18:100:100 +13 28962666 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*1172A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962666T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15743;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.510407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,52:119:0.43697:65:-100:0.1314:10,16,1,11,6,8,16,45,6,22,11,19:100:100 +13 28962666 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+1267A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962666T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15743;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.510407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=14.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,52:119:0.43697:65:-100:0.1314:10,16,1,11,6,8,16,45,6,22,11,19:100:100 +13 28962666 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+1267A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962666T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15743;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.510407;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=14.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,52:119:0.43697:65:-100:0.1314:10,16,1,11,6,8,16,45,6,22,11,19:100:100 +13 28962686 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*1152A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962686T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8875;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.287347;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56740576&COSV56740576;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,52:122:0.42623:65:-100:0.1159:7,17,4,12,5,7,19,44,5,24,8,22:100:100 +13 28962686 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+1247A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962686T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8875;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.287347;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56740576&COSV56740576;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=11.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,52:122:0.42623:65:-100:0.1159:7,17,4,12,5,7,19,44,5,24,8,22:100:100 +13 28962686 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+1247A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962686T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8875;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.287347;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56740576&COSV56740576;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=11.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,52:122:0.42623:65:-100:0.1159:7,17,4,12,5,7,19,44,5,24,8,22:100:100 +13 28962757 . A T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*1081T>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962757A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12806;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.414622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.438 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,31:130:0.23846:65:-100:0.1096:4,15,3,3,2,4,19,42,13,23,10,23:100:100 +13 28962757 . A T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+1176T>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962757A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12806;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.414622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=3.438 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,31:130:0.23846:65:-100:0.1096:4,15,3,3,2,4,19,42,13,23,10,23:100:100 +13 28962757 . A T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+1176T>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962757A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12806;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.414622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=3.438 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,31:130:0.23846:65:-100:0.1096:4,15,3,3,2,4,19,42,13,23,10,23:100:100 +13 28962942 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*896G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962942C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1505;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0485986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.120 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,17:135:0.12593:65:-100:0.1346:3,6,1,2,2,3,18,52,13,17,11,24:100:100 +13 28962942 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+991G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962942C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1505;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0485986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:D657int;CSQ_CADD_PHRED=0.120 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,17:135:0.12593:65:-100:0.1346:3,6,1,2,2,3,18,52,13,17,11,24:100:100 +13 28962942 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+991G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28962942C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1505;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0485986;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:D657int;CSQ_CADD_PHRED=0.120 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,17:135:0.12593:65:-100:0.1346:3,6,1,2,2,3,18,52,13,17,11,24:100:100 +13 28963676 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*162C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28963676G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8699;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.281594;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56740584&COSV56740584;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.265 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,43:108:0.39815:65:-100:0.1429:5,15,5,9,1,8,14,38,10,22,8,16:100:100 +13 28963676 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+257C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28963676G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8699;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.281594;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56740584&COSV56740584;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=0.265 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,43:108:0.39815:65:-100:0.1429:5,15,5,9,1,8,14,38,10,22,8,16:100:100 +13 28963676 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+257C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28963676G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8699;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.281594;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56740584&COSV56740584;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=0.265 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,43:108:0.39815:65:-100:0.1429:5,15,5,9,1,8,14,38,10,22,8,16:100:100 +13 28963702 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.*136C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28963702G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12924;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.418469;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,37:108:0.34259:65:-100:0.0924:9,11,4,5,3,5,17,35,10,24,7,15:100:100 +13 28963702 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/14;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1969+231C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28963702G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12924;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.418469;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=10.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,37:108:0.34259:65:-100:0.0924:9,11,4,5,3,5,17,35,10,24,7,15:100:100 +13 28963702 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=FLT1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1969+231C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.28963702G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12924;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.418469;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:3UTR&FLT1:D657int&FLT1:D657intd;CSQ_CADD_PHRED=10.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,37:108:0.34259:65:-100:0.0924:9,11,4,5,3,5,17,35,10,24,7,15:100:100 +13 28964198 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001159920.2;CSQ_HGVSc=NM_001159920.2:c.1704G>A;CSQ_HGVSp=NP_001153392.1:p.Thr568%3D;CSQ_HGVSg=13:g.28964198C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1622;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0523936;CSQ_gnomADe_AC=22427;CSQ_gnomADe_AN=245762;CSQ_gnomADe_AF=0.091255;CSQ_gnomADe_Hom=2079;CSQ_COSMICcMuts=COSV56731053&COSV56731053;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:T568T;CSQ_CADD_PHRED=4.740 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,12:99:0.12121:65:-100:0.175:0,8,1,1,1,1,18,35,11,10,8,17:100:100 +13 28964198 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/15;CSQ_INTRON=.;CSQ_Feature=NM_001160030.2;CSQ_HGVSc=NM_001160030.2:c.1704G>A;CSQ_HGVSp=NP_001153502.1:p.Thr568%3D;CSQ_HGVSg=13:g.28964198C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1622;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0523936;CSQ_gnomADe_AC=22427;CSQ_gnomADe_AN=245762;CSQ_gnomADe_AF=0.091255;CSQ_gnomADe_Hom=2079;CSQ_COSMICcMuts=COSV56731053&COSV56731053;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:T568T;CSQ_CADD_PHRED=4.740 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,12:99:0.12121:65:-100:0.175:0,8,1,1,1,1,18,35,11,10,8,17:100:100 +13 28964198 . C T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=FLT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/30;CSQ_INTRON=.;CSQ_Feature=NM_002019.4;CSQ_HGVSc=NM_002019.4:c.1704G>A;CSQ_HGVSp=NP_002010.2:p.Thr568%3D;CSQ_HGVSg=13:g.28964198C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1622;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0523936;CSQ_gnomADe_AC=22427;CSQ_gnomADe_AN=245762;CSQ_gnomADe_AF=0.091255;CSQ_gnomADe_Hom=2079;CSQ_COSMICcMuts=COSV56731053&COSV56731053;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLT1:T568T;CSQ_CADD_PHRED=4.740 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,12:99:0.12121:65:-100:0.175:0,8,1,1,1,1,18,35,11,10,8,17:100:100 +13 32890650 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=BRCA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.53G>A;CSQ_HGVSp=NP_000050.3:p.Arg18His;CSQ_HGVSg=13:g.32890650G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=51855;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=8;CSQ_gnomADe_AN=246078;CSQ_gnomADe_AF=3.251e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61525308&COSV61525308;CSQ_COSMICncMuts=COSV61525308&COSV61525308;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.075;CSQ_Mastermind_MMID3=BRCA2:R18H;CSQ_CADD_PHRED=24.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,14:118:0.11864:65:-100:0.1194:3,3,0,3,2,3,16,33,8,21,19,21:100:100 +13 32891798 . T C 100 PASS DP=91;CSQ_Allele=C;CSQ_SYMBOL=BRCA2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/26;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.67+1134T>C;CSQ_HGVSp=.;CSQ_HGVSg=13:g.32891798T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=209609;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_2¬_provided;CSQ_gnomADg_AC=8997;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.290977;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:D23int&BRCA2:D23intd;CSQ_CADD_PHRED=5.120 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,31:91:0.34066:65:-100:0.1802:7,7,4,6,4,3,18,22,9,13,14,15:100:100 +13 32906480 . A C 100 PASS DP=88;CSQ_Allele=C;CSQ_SYMBOL=BRCA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.865A>C;CSQ_HGVSp=NP_000050.3:p.Asn289His;CSQ_HGVSg=13:g.32906480A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41567;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Medulloblastoma&Breast_carcinoma&Malignant_tumor_of_prostate&Hereditary_breast_ovarian_cancer_syndrome&Wilms_tumor_1&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Glioma_susceptibility_3&Pancreatic_cancer&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=950;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0306867;CSQ_gnomADe_AC=12198;CSQ_gnomADe_AN=234750;CSQ_gnomADe_AF=0.0519617;CSQ_gnomADe_Hom=520;CSQ_COSMICcMuts=COSV66448377&COSV66448377;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=0.086;CSQ_Mastermind_MMID3=BRCA2:N289H;CSQ_CADD_PHRED=17.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,15:88:0.17045:65:-100:0.12:1,6,5,1,0,2,13,34,11,13,5,12:100:100 +13 32906980 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=BRCA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.1365A>G;CSQ_HGVSp=NP_000050.3:p.Ser455%3D;CSQ_HGVSg=13:g.32906980A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=125943;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=948;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0306162;CSQ_gnomADe_AC=12688;CSQ_gnomADe_AN=243164;CSQ_gnomADe_AF=0.0521788;CSQ_gnomADe_Hom=531;CSQ_COSMICcMuts=COSV66448386&COSV66448386;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:S455S;CSQ_CADD_PHRED=6.300 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,14:112:0.125:65:-100:0.0894:3,4,2,5,0,0,16,38,10,23,13,12:100:100 +13 32907767 . C T 100 PASS DP=86;CSQ_Allele=T;CSQ_SYMBOL=BRCA2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/26;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.1909+243C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.32907767C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=209675;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_2¬_provided;CSQ_gnomADg_AC=946;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.030603;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:G637int&BRCA2:G637intd;CSQ_CADD_PHRED=0.174 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,10:86:0.11628:65:-100:0.1042:0,0,2,4,3,1,11,29,9,16,8,13:100:100 +13 32910721 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=BRCA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.2229T>C;CSQ_HGVSp=NP_000050.3:p.His743%3D;CSQ_HGVSg=13:g.32910721T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=125979;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Medulloblastoma&Malignant_tumor_of_prostate&Hereditary_breast_ovarian_cancer_syndrome&Wilms_tumor_1&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Glioma_susceptibility_3&Pancreatic_cancer&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=953;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0307856;CSQ_gnomADe_AC=12951;CSQ_gnomADe_AN=246068;CSQ_gnomADe_AF=0.0526318;CSQ_gnomADe_Hom=541;CSQ_COSMICcMuts=COSV66450642&COSV66450642;CSQ_COSMICncMuts=COSV66450642;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:H743H;CSQ_CADD_PHRED=0.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,14:111:0.12613:65:-100:0.1838:0,7,0,4,0,3,18,37,9,23,11,13:100:100 +13 32911463 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=BRCA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.2971A>G;CSQ_HGVSp=NP_000050.3:p.Asn991Asp;CSQ_HGVSg=13:g.32911463A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41545;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Medulloblastoma&Breast_carcinoma&Malignant_tumor_of_prostate&Hereditary_breast_ovarian_cancer_syndrome&Wilms_tumor_1&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Glioma_susceptibility_3&Pancreatic_cancer&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=1160;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0374774;CSQ_gnomADe_AC=13255;CSQ_gnomADe_AN=245530;CSQ_gnomADe_AF=0.0539853;CSQ_gnomADe_Hom=547;CSQ_COSMICcMuts=COSV66450658&COSV66450658;CSQ_COSMICncMuts=COSV66450658;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.040;CSQ_Mastermind_MMID3=BRCA2:N991D;CSQ_CADD_PHRED=1.267 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,10:112:0.08929:65:-100:0.1111:3,6,0,0,1,0,19,40,5,16,12,20:100:100 +13 32911888 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=BRCA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.3396A>G;CSQ_HGVSp=NP_000050.3:p.Lys1132%3D;CSQ_HGVSg=13:g.32911888A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126010;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=9220;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.298401;CSQ_gnomADe_AC=72325;CSQ_gnomADe_AN=245384;CSQ_gnomADe_AF=0.294742;CSQ_gnomADe_Hom=11007;CSQ_COSMICcMuts=COSV66448451&COSV66448451;CSQ_COSMICncMuts=COSV66448451;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:K1132K;CSQ_CADD_PHRED=7.454 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,39:112:0.34821:65:-100:0.1111:10,12,4,4,0,9,20,45,6,13,7,21:100:100 +13 32912008 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=BRCA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.3516G>A;CSQ_HGVSp=NP_000050.3:p.Ser1172%3D;CSQ_HGVSg=13:g.32912008G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=51481;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Medulloblastoma&Malignant_tumor_of_prostate&Hereditary_breast_ovarian_cancer_syndrome&Wilms_tumor_1&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Glioma_susceptibility_3&Pancreatic_cancer&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=67;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00216408;CSQ_gnomADe_AC=683;CSQ_gnomADe_AN=245554;CSQ_gnomADe_AF=0.00278147;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=COSV104430713&COSV104430713;CSQ_COSMICncMuts=COSV104430713;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:S1172S;CSQ_CADD_PHRED=0.163 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,11:108:0.10185:65:-100:0.2059:2,5,1,2,0,1,19,42,6,13,8,20:100:100 +13 32912299 . T C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=BRCA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.3807T>C;CSQ_HGVSp=NP_000050.3:p.Val1269%3D;CSQ_HGVSg=13:g.32912299T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126022;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=5611;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.181551;CSQ_gnomADe_AC=39807;CSQ_gnomADe_AN=227874;CSQ_gnomADe_AF=0.174689;CSQ_gnomADe_Hom=3528;CSQ_COSMICcMuts=COSV66455922&COSV66455922;CSQ_COSMICncMuts=COSV66455922;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:V1269V;CSQ_CADD_PHRED=0.602 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,54:116:0.46552:65:-100:0.1145:6,19,8,7,7,7,17,41,13,15,12,18:100:100 +13 32912750 . G T 100 PASS DP=114;CSQ_Allele=T;CSQ_SYMBOL=BRCA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.4258G>T;CSQ_HGVSp=NP_000050.3:p.Asp1420Tyr;CSQ_HGVSg=13:g.32912750G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41549;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=250;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.00808172;CSQ_gnomADe_AC=1589;CSQ_gnomADe_AN=240672;CSQ_gnomADe_AF=0.00660235;CSQ_gnomADe_Hom=13;CSQ_COSMICcMuts=COSV66451253&COSV66451253;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.152;CSQ_Mastermind_MMID3=BRCA2:D1420Y;CSQ_CADD_PHRED=15.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,6:114:0.05263:65:-100:0.1618:1,3,0,1,1,0,15,48,8,19,9,15:85.736:100 +13 32913055 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=BRCA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.4563A>G;CSQ_HGVSp=NP_000050.3:p.Leu1521%3D;CSQ_HGVSg=13:g.32913055A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=132779;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=30322;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.979899;CSQ_gnomADe_AC=244277;CSQ_gnomADe_AN=245634;CSQ_gnomADe_AF=0.994476;CSQ_gnomADe_Hom=121497;CSQ_COSMICcMuts=COSV101203861&COSV101203861;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:L1521L;CSQ_CADD_PHRED=2.651 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,122:122:1:65:-100:0.1586:25,39,9,18,10,21,25,39,9,18,10,21:100:100 +13 32913558 . CA C 100 PASS DP=124;CSQ_Allele=-;CSQ_SYMBOL=BRCA2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.5073del;CSQ_HGVSp=NP_000050.3:p.Lys1691AsnfsTer15;CSQ_HGVSg=13:g.32913565del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=51762;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66451438&COSV66451438;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,7:124:0.05645:65:-100:0:2,0,0,1,2,2,23,41,16,20,7,17:72.678:100 +13 32913836 . CA C 100 PASS DP=112;CSQ_Allele=-;CSQ_SYMBOL=BRCA2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.5351del;CSQ_HGVSp=NP_000050.3:p.Asn1784ThrfsTer7;CSQ_HGVSg=13:g.32913843del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=37961;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66448906&COSV66448906;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,18:112:0.16071:65:-100:0:0,7,1,2,1,7,17,31,17,12,14,21:100:100 +13 32914236 . C T 100 PASS DP=115;CSQ_Allele=T;CSQ_SYMBOL=BRCA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.5744C>T;CSQ_HGVSp=NP_000050.3:p.Thr1915Met;CSQ_HGVSg=13:g.32914236C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=41556;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_neoplasm&Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=618;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.019969;CSQ_gnomADe_AC=4344;CSQ_gnomADe_AN=245828;CSQ_gnomADe_AF=0.0176709;CSQ_gnomADe_Hom=53;CSQ_COSMICcMuts=COSV66459591&COSV66459591;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=0.143;CSQ_Mastermind_MMID3=BRCA2:T1915M;CSQ_CADD_PHRED=2.240 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,8:115:0.06957:65:-100:0.1288:3,3,0,1,0,1,16,40,6,21,7,25:81.07:100 +13 32915005 . G C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=BRCA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.6513G>C;CSQ_HGVSp=NP_000050.3:p.Val2171%3D;CSQ_HGVSg=13:g.32915005G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=132780;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=30334;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.979844;CSQ_gnomADe_AC=233536;CSQ_gnomADe_AN=234874;CSQ_gnomADe_AF=0.994303;CSQ_gnomADe_Hom=116135;CSQ_COSMICcMuts=COSV66458663&COSV66458663;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:V2171V;CSQ_CADD_PHRED=0.109 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,103:103:1:65:-100:0.1345:13,37,11,21,5,16,13,37,11,21,5,16:100:100 +13 32928202 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=BRCA2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/26;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.7008-796A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.32928202A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=209753;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_2;CSQ_gnomADg_AC=8302;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.268465;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:R2336int&BRCA2:R2336inta;CSQ_CADD_PHRED=11.70 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,10:130:0.07692:65:-100:0.1275:3,3,0,2,0,2,22,47,12,17,11,21:100:100 +13 32929232 . A G 100 PASS DP=119;CSQ_Allele=G;CSQ_SYMBOL=BRCA2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.7242A>G;CSQ_HGVSp=NP_000050.3:p.Ser2414%3D;CSQ_HGVSg=13:g.32929232A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126133;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_D1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=7113;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.229897;CSQ_gnomADe_AC=55365;CSQ_gnomADe_AN=246026;CSQ_gnomADe_AF=0.225037;CSQ_gnomADe_Hom=6555;CSQ_COSMICcMuts=COSV66447569&COSV66447569;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:S2414S;CSQ_CADD_PHRED=8.154 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,22:119:0.18487:65:-100:0.125:3,2,1,6,5,5,15,40,13,25,10,16:100:100 +13 32929387 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=BRCA2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.7397T>C;CSQ_HGVSp=NP_000050.3:p.Val2466Ala;CSQ_HGVSg=13:g.32929387T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133738;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Ductal_breast_carcinoma¬_specified¬_provided;CSQ_gnomADg_AC=30406;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.981916;CSQ_gnomADe_AC=244758;CSQ_gnomADe_AN=245992;CSQ_gnomADe_AF=0.994984;CSQ_gnomADe_Hom=121794;CSQ_COSMICcMuts=COSV66451785&COSV66451785;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.091;CSQ_Mastermind_MMID3=BRCA2:V2466A;CSQ_CADD_PHRED=11.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,128:128:1:65:-100:0.1467:30,40,7,15,13,23,30,40,7,15,13,23:100:100 +13 32937354 . T TA 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=BRCA2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=18/27;CSQ_INTRON=.;CSQ_Feature=NM_000059.4;CSQ_HGVSc=NM_000059.4:c.8021dup;CSQ_HGVSp=NP_000050.3:p.Ile2675AspfsTer6;CSQ_HGVSg=13:g.32937360dup;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=267050;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Breast-ovarian_cancer&_familial&_susceptibility_to&_2&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66451450&COSV66451450;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA2:I2675fs;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,6:118:0.05085:65:-48.2791:0:0,0,0,3,1,2,22,40,9,16,8,23:90.759:100 +13 41134096 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=FOXO1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_002015.4;CSQ_HGVSc=NM_002015.4:c.1532C>T;CSQ_HGVSp=NP_002006.2:p.Ala511Val;CSQ_HGVSg=13:g.41134096G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=39;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00125985;CSQ_gnomADe_AC=348;CSQ_gnomADe_AN=246054;CSQ_gnomADe_AF=0.00141432;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV65425650;CSQ_COSMICncMuts=COSV65425650;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.298;CSQ_Mastermind_MMID3=FOXO1:A511V;CSQ_CADD_PHRED=20.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,11:108:0.10185:65:-100:0.1692:1,4,4,1,0,1,14,36,16,19,6,17:100:100 +13 73342965 . T C 100 PASS DP=101;CSQ_Allele=C;CSQ_SYMBOL=DIS3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/21;CSQ_INTRON=.;CSQ_Feature=NM_001128226.3;CSQ_HGVSc=NM_001128226.3:c.1751A>G;CSQ_HGVSp=NP_001121698.1:p.Asn584Ser;CSQ_HGVSg=13:g.73342965T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=0.320;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,8:101:0.07921:65:-100:0.1368:0,6,0,1,0,1,21,32,7,17,7,17:100:100 +13 73342965 . T C 100 PASS DP=101;CSQ_Allele=C;CSQ_SYMBOL=DIS3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/21;CSQ_INTRON=.;CSQ_Feature=NM_014953.5;CSQ_HGVSc=NM_014953.5:c.1841A>G;CSQ_HGVSp=NP_055768.3:p.Asn614Ser;CSQ_HGVSg=13:g.73342965T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=0.320;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=26.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,8:101:0.07921:65:-100:0.1368:0,6,0,1,0,1,21,32,7,17,7,17:100:100 +13 73343039 . C T 100 PASS DP=94;CSQ_Allele=T;CSQ_SYMBOL=DIS3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/21;CSQ_INTRON=.;CSQ_Feature=NM_001128226.3;CSQ_HGVSc=NM_001128226.3:c.1677G>A;CSQ_HGVSp=NP_001121698.1:p.Thr559%3D;CSQ_HGVSg=13:g.73343039C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22857;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.739326;CSQ_gnomADe_AC=178948;CSQ_gnomADe_AN=242534;CSQ_gnomADe_AF=0.737826;CSQ_gnomADe_Hom=66465;CSQ_COSMICcMuts=COSV66705551&COSV66705551&COSV66705551;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DIS3:T427T&DIS3:T466T&DIS3:T559T&DIS3:T589T;CSQ_CADD_PHRED=1.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,69:94:0.73404:65:-100:0.1215:7,36,9,6,5,6,9,44,11,10,7,13:100:100 +13 73343039 . C T 100 PASS DP=94;CSQ_Allele=T;CSQ_SYMBOL=DIS3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/21;CSQ_INTRON=.;CSQ_Feature=NM_014953.5;CSQ_HGVSc=NM_014953.5:c.1767G>A;CSQ_HGVSp=NP_055768.3:p.Thr589%3D;CSQ_HGVSg=13:g.73343039C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22857;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.739326;CSQ_gnomADe_AC=178948;CSQ_gnomADe_AN=242534;CSQ_gnomADe_AF=0.737826;CSQ_gnomADe_Hom=66465;CSQ_COSMICcMuts=COSV66705551&COSV66705551&COSV66705551;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DIS3:T427T&DIS3:T466T&DIS3:T559T&DIS3:T589T;CSQ_CADD_PHRED=1.642 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,69:94:0.73404:65:-100:0.1215:7,36,9,6,5,6,9,44,11,10,7,13:100:100 +13 73349359 . G C 100 PASS DP=89;CSQ_Allele=C;CSQ_SYMBOL=DIS3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/21;CSQ_INTRON=.;CSQ_Feature=NM_001128226.3;CSQ_HGVSc=NM_001128226.3:c.887C>G;CSQ_HGVSp=NP_001121698.1:p.Thr296Arg;CSQ_HGVSg=13:g.73349359G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14562;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.471598;CSQ_gnomADe_AC=94273;CSQ_gnomADe_AN=243838;CSQ_gnomADe_AF=0.386621;CSQ_gnomADe_Hom=19904;CSQ_COSMICcMuts=COSV66705559&COSV66705559&COSV66705559;CSQ_COSMICncMuts=COSV66705559;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=DIS3:T164R&DIS3:T203R&DIS3:T296R&DIS3:T326R;CSQ_CADD_PHRED=10.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,26:89:0.29213:65:-100:0.1359:2,9,3,7,2,3,14,28,9,17,8,13:100:100 +13 73349359 . G C 100 PASS DP=89;CSQ_Allele=C;CSQ_SYMBOL=DIS3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/21;CSQ_INTRON=.;CSQ_Feature=NM_014953.5;CSQ_HGVSc=NM_014953.5:c.977C>G;CSQ_HGVSp=NP_055768.3:p.Thr326Arg;CSQ_HGVSg=13:g.73349359G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14562;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.471598;CSQ_gnomADe_AC=94273;CSQ_gnomADe_AN=243838;CSQ_gnomADe_AF=0.386621;CSQ_gnomADe_Hom=19904;CSQ_COSMICcMuts=COSV66705559&COSV66705559&COSV66705559;CSQ_COSMICncMuts=COSV66705559;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=DIS3:T164R&DIS3:T203R&DIS3:T296R&DIS3:T326R;CSQ_CADD_PHRED=10.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,26:89:0.29213:65:-100:0.1359:2,9,3,7,2,3,14,28,9,17,8,13:100:100 +13 73350079 . T C 100 PASS DP=98;CSQ_Allele=C;CSQ_SYMBOL=DIS3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/21;CSQ_INTRON=.;CSQ_Feature=NM_001128226.3;CSQ_HGVSc=NM_001128226.3:c.716A>G;CSQ_HGVSp=NP_001121698.1:p.Asn239Ser;CSQ_HGVSg=13:g.73350079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7994;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.25894;CSQ_gnomADe_AC=80562;CSQ_gnomADe_AN=235630;CSQ_gnomADe_AF=0.3419;CSQ_gnomADe_Hom=15967;CSQ_COSMICcMuts=COSV66705534&COSV66705534&COSV66705534;CSQ_COSMICncMuts=COSV66705534&COSV66705534;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=0.059;CSQ_Mastermind_MMID3=DIS3:N107S&DIS3:N146S&DIS3:N239S&DIS3:N269S;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,55:98:0.56122:65:-100:0.1478:13,19,7,7,6,3,21,28,13,17,9,10:100:100 +13 73350079 . T C 100 PASS DP=98;CSQ_Allele=C;CSQ_SYMBOL=DIS3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/21;CSQ_INTRON=.;CSQ_Feature=NM_014953.5;CSQ_HGVSc=NM_014953.5:c.806A>G;CSQ_HGVSp=NP_055768.3:p.Asn269Ser;CSQ_HGVSg=13:g.73350079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7994;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.25894;CSQ_gnomADe_AC=80562;CSQ_gnomADe_AN=235630;CSQ_gnomADe_AF=0.3419;CSQ_gnomADe_Hom=15967;CSQ_COSMICcMuts=COSV66705534&COSV66705534&COSV66705534;CSQ_COSMICncMuts=COSV66705534&COSV66705534;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=0.059;CSQ_Mastermind_MMID3=DIS3:N107S&DIS3:N146S&DIS3:N239S&DIS3:N269S;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,55:98:0.56122:65:-100:0.1478:13,19,7,7,6,3,21,28,13,17,9,10:100:100 +13 102375201 . T C 100 PASS DP=102;CSQ_Allele=C;CSQ_SYMBOL=FGF14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_004115.4;CSQ_HGVSc=NM_004115.4:c.724A>G;CSQ_HGVSp=NP_004106.1:p.Asn242Asp;CSQ_HGVSg=13:g.102375201T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65936716&COSV65936716;CSQ_COSMICncMuts=COSV65936716&COSV65936716;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=0.307;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,10:102:0.09804:65:-100:0.15:0,2,0,4,0,4,15,37,8,17,7,18:100:100 +13 102375201 . T C 100 PASS DP=102;CSQ_Allele=C;CSQ_SYMBOL=FGF14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.739A>G;CSQ_HGVSp=NP_787125.1:p.Asn247Asp;CSQ_HGVSg=13:g.102375201T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65936716&COSV65936716;CSQ_COSMICncMuts=COSV65936716&COSV65936716;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=0.307;CSQ_Mastermind_MMID3=FGF14:N247D;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,10:102:0.09804:65:-100:0.15:0,2,0,4,0,4,15,37,8,17,7,18:100:100 +13 102382362 . C A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_004115.4;CSQ_HGVSc=NM_004115.4:c.409-3202G>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102382362C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10162;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.32923;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF14:S102int&FGF14:S102inta&FGF14:S104int&FGF14:S104inta&FGF14:S136int&FGF14:S136inta&FGF14:S141int&FGF14:S141inta&FGF14:S52int&FGF14:S52inta&FGF14:S73int&FGF14:S73inta&FGF14:S74int&FGF14:S74inta&FGF14:S76int&FGF14:S76inta&FGF14:S89int&FGF14:S89inta;CSQ_CADD_PHRED=0.403 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,37:102:0.36275:65:-100:0.184:7,14,4,6,2,4,13,40,12,15,9,13:100:100 +13 102382362 . C A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.424-3202G>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102382362C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10162;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.32923;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF14:S102int&FGF14:S102inta&FGF14:S104int&FGF14:S104inta&FGF14:S136int&FGF14:S136inta&FGF14:S141int&FGF14:S141inta&FGF14:S52int&FGF14:S52inta&FGF14:S73int&FGF14:S73inta&FGF14:S74int&FGF14:S74inta&FGF14:S76int&FGF14:S76inta&FGF14:S89int&FGF14:S89inta;CSQ_CADD_PHRED=0.403 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,37:102:0.36275:65:-100:0.184:7,14,4,6,2,4,13,40,12,15,9,13:100:100 +13 102589909 . C T 100 PASS DP=108;CSQ_Allele=T;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.209-62263G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102589909C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2916;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0942652;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.777 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,15:108:0.13889:65:-100:0.1563:3,7,0,1,1,3,13,43,9,13,11,19:100:100 +13 102595733 . C T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.209-68087G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102595733C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2617;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0845885;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.970 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,45:124:0.3629:65:-100:0.1565:6,16,3,6,6,8,14,41,7,23,14,25:100:100 +13 102732730 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.209-205084G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102732730C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=45;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00145293;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.027 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,13:152:0.08553:65:-100:0.1214:0,7,2,1,1,2,23,59,11,23,13,23:100:100 +13 102756222 . A G 100 PASS DP=115;CSQ_Allele=G;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.209-228576T>C;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102756222A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.00032281;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.412 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,10:115:0.08696:65:-100:0.1288:0,5,0,1,2,2,22,52,7,11,7,16:100:100 +13 102756454 . C A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.209-228808G>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102756454C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2269;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0732644;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.613 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,7:131:0.05344:65:-100:0.1149:0,3,0,3,0,1,21,47,12,24,9,18:63.45:100 +13 102819223 . T C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.208+234598A>G;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102819223T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6067;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.196572;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF14:5UTR&FGF14:5UTRint&FGF14:5UTRintd&FGF14:A70int&FGF14:A70intd&FGF14:D18int&FGF14:D18intd&FGF14:D31int&FGF14:D31intd&FGF14:D3int&FGF14:D3intd&FGF14:D5int&FGF14:D5intd&FGF14:D70int&FGF14:D70intd&FGF14:H2int&FGF14:H2intd;CSQ_CADD_PHRED=2.926 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,20:112:0.17857:65:-100:0.125:4,5,2,4,2,3,24,41,10,13,9,15:100:100 +13 102853705 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.208+200116C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102853705G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1476;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.0477207;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF14:5UTR&FGF14:5UTRint&FGF14:5UTRinta&FGF14:5UTRintd&FGF14:A70int&FGF14:A70intd&FGF14:D18int&FGF14:D18intd&FGF14:D31int&FGF14:D31intd&FGF14:D3int&FGF14:D3intd&FGF14:D5int&FGF14:D5intd&FGF14:D70int&FGF14:D70intd;CSQ_CADD_PHRED=1.717 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,8:103:0.07767:65:-100:0.0636:1,5,0,1,1,0,16,39,4,21,9,14:74.312:100 +13 102891966 . T A 100 PASS DP=96;CSQ_Allele=A;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.208+161855A>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102891966T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24831;CSQ_gnomADg_AN=30588;CSQ_gnomADg_AF=0.811789;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF14:D18int;CSQ_CADD_PHRED=1.222 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,68:96:0.70833:65:-100:0.2:9,21,5,15,6,12,11,31,8,20,9,17:100:100 +13 102912137 . A G 100 PASS DP=95;CSQ_Allele=G;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.208+141684T>C;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102912137A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18937;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.612689;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF14:5UTR&FGF14:5UTRint&FGF14:5UTRinta&FGF14:5UTRintd&FGF14:A70int&FGF14:A70intd&FGF14:D18int&FGF14:D18intd&FGF14:D31int&FGF14:D31intd&FGF14:D3int&FGF14:D3intd&FGF14:D70int&FGF14:D70intd;CSQ_CADD_PHRED=3.690 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,57:95:0.6:65:-100:0.188:10,14,3,9,8,13,11,31,8,13,13,19:100:100 +13 102935730 . A G 100 PASS DP=115;CSQ_Allele=G;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.208+118091T>C;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102935730A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17759;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.575619;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.758 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,83:115:0.72174:65:-100:0.1288:11,24,8,14,9,17,15,37,12,16,11,24:100:100 +13 102948149 . C T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=FGF14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/4;CSQ_Feature=NM_175929.3;CSQ_HGVSc=NM_175929.3:c.208+105672G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.102948149C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21669;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.701489;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.435 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,93:118:0.78814:65:-100:0.1387:14,43,12,13,1,10,18,53,15,18,1,13:100:100 +13 103504517 . T C 100 PASS DP=102;CSQ_Allele=C;CSQ_SYMBOL=ERCC5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/15;CSQ_INTRON=.;CSQ_Feature=NM_000123.4;CSQ_HGVSc=NM_000123.4:c.138T>C;CSQ_HGVSp=NP_000114.3:p.His46%3D;CSQ_HGVSg=13:g.103504517T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=129009;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_G¬_specified¬_provided;CSQ_gnomADg_AC=18270;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.591339;CSQ_gnomADe_AC=128018;CSQ_gnomADe_AN=246184;CSQ_gnomADe_AF=0.520009;CSQ_gnomADe_Hom=35633;CSQ_COSMICcMuts=COSV63245576&COSV63245576&COSV63245576;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BIVM-ERCC5:H500H&ERCC5:H46H;CSQ_CADD_PHRED=2.807 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,52:102:0.5098:65:-100:0.1207:6,28,4,7,3,4,21,45,6,14,7,9:100:100 +13 103514459 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=ERCC5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/15;CSQ_INTRON=.;CSQ_Feature=NM_000123.4;CSQ_HGVSc=NM_000123.4:c.960C>T;CSQ_HGVSp=NP_000114.3:p.Asp320%3D;CSQ_HGVSg=13:g.103514459C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=522357;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_G¬_provided;CSQ_gnomADg_AC=251;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00810619;CSQ_gnomADe_AC=2439;CSQ_gnomADe_AN=246038;CSQ_gnomADe_AF=0.0099131;CSQ_gnomADe_Hom=13;CSQ_COSMICcMuts=COSV104673101&COSV104673101;CSQ_COSMICncMuts=COSV104673101&COSV104673101&COSV104673101;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BIVM-ERCC5:D774D&ERCC5:D320D;CSQ_CADD_PHRED=0.225 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1361:1,6,1,2,0,0,30,30,6,22,17,22:100:100 +13 103515036 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=ERCC5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/15;CSQ_INTRON=.;CSQ_Feature=NM_000123.4;CSQ_HGVSc=NM_000123.4:c.1537G>A;CSQ_HGVSp=NP_000114.3:p.Ala513Thr;CSQ_HGVSg=13:g.103515036G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246048;CSQ_gnomADe_AF=4.06425e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63245635&COSV63245635;CSQ_COSMICncMuts=COSV63245635&COSV63245635&COSV63245635;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=0.048;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.980 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,9:139:0.06475:65:-100:0.1524:1,3,2,1,0,2,28,47,17,19,8,20:100:100 +13 103527849 . G C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=ERCC5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_000123.4;CSQ_HGVSc=NM_000123.4:c.3157G>C;CSQ_HGVSp=NP_000114.3:p.Gly1053Arg;CSQ_HGVSg=13:g.103527849G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134172;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_G¬_specified¬_provided;CSQ_gnomADg_AC=30922;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.998128;CSQ_gnomADe_AC=245954;CSQ_gnomADe_AN=246074;CSQ_gnomADe_AF=0.999512;CSQ_gnomADe_Hom=122917;CSQ_COSMICcMuts=COSV100863566&COSV100863566;CSQ_COSMICncMuts=COSV100863566&COSV100863566;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=0.038;CSQ_Mastermind_MMID3=BIVM-ERCC5:G1507R&ERCC5:G1053R;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,109:109:1:65:-100:0.2101:20,44,7,15,6,17,20,44,7,15,6,17:100:100 +13 103527930 . G C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=ERCC5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_000123.4;CSQ_HGVSc=NM_000123.4:c.3238G>C;CSQ_HGVSp=NP_000114.3:p.Gly1080Arg;CSQ_HGVSg=13:g.103527930G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134173;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=30929;CSQ_gnomADg_AN=30988;CSQ_gnomADg_AF=0.998096;CSQ_gnomADe_AC=245159;CSQ_gnomADe_AN=245306;CSQ_gnomADe_AF=0.999401;CSQ_gnomADe_Hom=122506;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.015;CSQ_Mastermind_MMID3=BIVM-ERCC5:G1534R&ERCC5:G1080R;CSQ_CADD_PHRED=1.290 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,124:124:1:65:-100:0.1206:29,30,10,23,18,14,29,30,10,23,18,14:100:100 +13 103528002 . G C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ERCC5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_000123.4;CSQ_HGVSc=NM_000123.4:c.3310G>C;CSQ_HGVSp=NP_000114.3:p.Asp1104His;CSQ_HGVSg=13:g.103528002G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=129011;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_G&Cerebrooculofacioskeletal_syndrome_3¬_specified¬_provided;CSQ_gnomADg_AC=9375;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.303457;CSQ_gnomADe_AC=68103;CSQ_gnomADe_AN=245896;CSQ_gnomADe_AF=0.276959;CSQ_gnomADe_Hom=10617;CSQ_COSMICcMuts=COSV63243750&COSV63243750;CSQ_COSMICncMuts=COSV63243750&COSV63243750;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.172;CSQ_Mastermind_MMID3=BIVM-ERCC5:D1558H&ERCC5:D1104H;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,52:133:0.39098:65:-100:0.1192:4,18,6,12,3,9,16,51,12,25,8,21:100:100 +13 110435231 . C T 100 PASS DP=48;CSQ_Allele=T;CSQ_SYMBOL=IRS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_003749.3;CSQ_HGVSc=NM_003749.3:c.3170G>A;CSQ_HGVSp=NP_003740.2:p.Gly1057Asp;CSQ_HGVSg=13:g.110435231C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=8820;CSQ_ClinVar_CLNSIG=risk_factor;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=DIABETES&_TYPE_II&_SUSCEPTIBILITY_TO;CSQ_gnomADg_AC=8944;CSQ_gnomADg_AN=30272;CSQ_gnomADg_AF=0.295455;CSQ_gnomADe_AC=53126;CSQ_gnomADe_AN=151592;CSQ_gnomADe_AF=0.350454;CSQ_gnomADe_Hom=9751;CSQ_COSMICcMuts=COSV65478662;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=0.052;CSQ_Mastermind_MMID3=IRS2:G1057D;CSQ_CADD_PHRED=9.765 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,18:48:0.375:65:-100:0.1111:5,4,0,2,3,4,8,9,5,8,8,10:100:100 +13 110435406 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=IRS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_003749.3;CSQ_HGVSc=NM_003749.3:c.2995G>A;CSQ_HGVSp=NP_003740.2:p.Val999Met;CSQ_HGVSg=13:g.110435406C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=479;CSQ_gnomADg_AN=30600;CSQ_gnomADg_AF=0.0156536;CSQ_gnomADe_AC=114;CSQ_gnomADe_AN=27638;CSQ_gnomADe_AF=0.00412476;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=COSV65480280;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.150;CSQ_Mastermind_MMID3=IRS2:V999M;CSQ_CADD_PHRED=20.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,15:90:0.16667:65:-100:0.1346:0,6,3,1,5,0,21,24,16,4,18,7:100:100 +13 110435953 . A G 100 PASS DP=112;CSQ_Allele=G;CSQ_SYMBOL=IRS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_003749.3;CSQ_HGVSc=NM_003749.3:c.2448T>C;CSQ_HGVSp=NP_003740.2:p.Cys816%3D;CSQ_HGVSg=13:g.110435953A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18773;CSQ_gnomADg_AN=30734;CSQ_gnomADg_AF=0.610822;CSQ_gnomADe_AC=83847;CSQ_gnomADe_AN=142774;CSQ_gnomADe_AF=0.587271;CSQ_gnomADe_Hom=24998;CSQ_COSMICcMuts=COSV65478656;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IRS2:C816C;CSQ_CADD_PHRED=2.035 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,71:112:0.63393:65:-100:0.1385:13,30,7,9,5,7,19,43,9,17,10,14:100:100 +13 110436232 . G A 100 PASS DP=69;CSQ_Allele=A;CSQ_SYMBOL=IRS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_003749.3;CSQ_HGVSc=NM_003749.3:c.2169C>T;CSQ_HGVSp=NP_003740.2:p.Ser723%3D;CSQ_HGVSg=13:g.110436232G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18496;CSQ_gnomADg_AN=30648;CSQ_gnomADg_AF=0.603498;CSQ_gnomADe_AC=78496;CSQ_gnomADe_AN=134262;CSQ_gnomADe_AF=0.584648;CSQ_gnomADe_Hom=23301;CSQ_COSMICcMuts=COSV65479217;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IRS2:S723S;CSQ_CADD_PHRED=0.856 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,51:69:0.73913:65:-100:0.1266:15,11,8,6,4,7,18,15,10,9,6,11:100:100 +13 113952950 . T C 100 PASS DP=117;CSQ_Allele=C;CSQ_SYMBOL=LAMP1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/8;CSQ_Feature=NM_005561.4;CSQ_HGVSc=NM_005561.4:c.61+1140T>C;CSQ_HGVSp=.;CSQ_HGVSg=13:g.113952950T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2231;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0720514;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.893 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,12:117:0.10256:65:-100:0.1397:3,3,1,2,3,0,21,44,7,22,9,14:100:100 +13 113959683 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=LAMP1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/8;CSQ_Feature=NM_005561.4;CSQ_HGVSc=NM_005561.4:c.62-1117G>A;CSQ_HGVSp=.;CSQ_HGVSg=13:g.113959683G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=81;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.00261442;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.264 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,13:156:0.08333:65:-100:0.1333:2,7,0,1,2,1,22,61,8,28,12,25:100:100 +13 113965176 . C A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=LAMP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/9;CSQ_INTRON=.;CSQ_Feature=NM_005561.4;CSQ_HGVSc=NM_005561.4:c.556C>A;CSQ_HGVSp=NP_005552.3:p.Arg186%3D;CSQ_HGVSg=13:g.113965176C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30153;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.975257;CSQ_gnomADe_AC=243631;CSQ_gnomADe_AN=245398;CSQ_gnomADe_AF=0.992799;CSQ_gnomADe_Hom=120992;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LAMP1:R186R;CSQ_CADD_PHRED=3.675 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,103:103:1:65:-100:0.1488:10,32,9,21,7,24,10,32,9,21,7,24:100:100 +13 113975043 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=LAMP1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_005561.4;CSQ_HGVSc=NM_005561.4:c.876+258C>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.113975043C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=524;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.016936;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.734 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,21:131:0.16031:65:-100:0.1863:2,11,0,2,2,4,22,42,11,23,7,26:100:100 +13 113975768 . T C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=LAMP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/9;CSQ_INTRON=.;CSQ_Feature=NM_005561.4;CSQ_HGVSc=NM_005561.4:c.926T>C;CSQ_HGVSp=NP_005552.3:p.Ile309Thr;CSQ_HGVSg=13:g.113975768T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1191;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.0384988;CSQ_gnomADe_AC=6435;CSQ_gnomADe_AN=246228;CSQ_gnomADe_AF=0.0261343;CSQ_gnomADe_Hom=323;CSQ_COSMICcMuts=COSV58148572&COSV58148572;CSQ_COSMICncMuts=COSV58148572&COSV58148572&COSV58148572&COSV58148572;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.027;CSQ_Mastermind_MMID3=LAMP1:I309T;CSQ_CADD_PHRED=0.388 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,14:151:0.09272:65:-100:0.2053:3,5,1,2,1,2,37,51,9,23,12,19:100:100 +13 113977566 . A T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=LAMP1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_005561.4;CSQ_HGVSc=NM_005561.4:c.*830A>T;CSQ_HGVSp=.;CSQ_HGVSg=13:g.113977566A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30563;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.990183;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LAMP1:3UTR;CSQ_CADD_PHRED=11.38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:1,130:131:0.99237:65:-100:0.1603:23,43,10,19,16,19,23,43,10,20,16,19:100:100 +14 23777099 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=BCL2L2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_001199839.2;CSQ_HGVSc=NM_001199839.2:c.123G>A;CSQ_HGVSp=NP_001186768.2:p.Pro41%3D;CSQ_HGVSg=14:g.23777099G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6691;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.216734;CSQ_gnomADe_AC=65286;CSQ_gnomADe_AN=244992;CSQ_gnomADe_AF=0.266482;CSQ_gnomADe_Hom=10004;CSQ_COSMICcMuts=COSV51635377&COSV51635377&COSV51635377;CSQ_COSMICncMuts=COSV51635377;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2L2:P41P;CSQ_CADD_PHRED=10.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,24:137:0.17518:65:-100:0.1988:2,10,2,5,3,2,12,60,10,21,14,20:100:100 +14 23777374 . A G 100 PASS DP=111;CSQ_Allele=G;CSQ_SYMBOL=BCL2L2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_001199839.2;CSQ_HGVSc=NM_001199839.2:c.398A>G;CSQ_HGVSp=NP_001186768.2:p.Gln133Arg;CSQ_HGVSg=14:g.23777374A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30899;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.998288;CSQ_gnomADe_AC=242141;CSQ_gnomADe_AN=242658;CSQ_gnomADe_AF=0.997869;CSQ_gnomADe_Hom=120813;CSQ_COSMICcMuts=COSV51636472&COSV51636472&COSV51636472;CSQ_COSMICncMuts=COSV51636472&COSV51636472;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.050;CSQ_Mastermind_MMID3=BCL2L2-PABPN1:Q133R&BCL2L2:Q133R;CSQ_CADD_PHRED=11.22 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,111:111:1:65:-100:0.1778:18,39,5,23,9,17,18,39,5,23,9,17:100:100 +14 35871217 . G A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=NFKBIA;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_020529.3;CSQ_HGVSc=NM_020529.3:c.*2C>T;CSQ_HGVSp=.;CSQ_HGVSg=14:g.35871217G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=313108;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Ectodermal_dysplasia_and_immunodeficiency_2¬_specified¬_provided;CSQ_gnomADg_AC=13991;CSQ_gnomADg_AN=30746;CSQ_gnomADg_AF=0.455051;CSQ_gnomADe_AC=96412;CSQ_gnomADe_AN=245912;CSQ_gnomADe_AF=0.392059;CSQ_gnomADe_Hom=19458;CSQ_COSMICcMuts=COSV53754079&COSV53754079&COSV53754079;CSQ_COSMICncMuts=COSV53754079&COSV53754079&COSV53754079&COSV53754079&COSV53754079;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NFKBIA:3UTR;CSQ_CADD_PHRED=7.419 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,18:114:0.15789:65:-100:0.1556:4,6,1,3,3,1,25,33,12,13,12,19:100:100 +14 35872926 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=NFKBIA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_020529.3;CSQ_HGVSc=NM_020529.3:c.306C>T;CSQ_HGVSp=NP_065390.1:p.Ala102%3D;CSQ_HGVSg=14:g.35872926G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=313115;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Ectodermal_dysplasia_and_immunodeficiency_2¬_specified¬_provided;CSQ_gnomADg_AC=4442;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.143996;CSQ_gnomADe_AC=40869;CSQ_gnomADe_AN=245260;CSQ_gnomADe_AF=0.166635;CSQ_gnomADe_Hom=3997;CSQ_COSMICcMuts=COSV53751737&COSV53751737&COSV53751737;CSQ_COSMICncMuts=COSV53751737&COSV53751737&COSV53751737;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NFKBIA:A102A;CSQ_CADD_PHRED=14.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,6:137:0.0438:65:-95.8637:0.1491:1,0,0,5,0,0,19,46,10,26,14,22:71.615:100 +14 35873770 . G A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=NFKBIA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/6;CSQ_INTRON=.;CSQ_Feature=NM_020529.3;CSQ_HGVSc=NM_020529.3:c.81C>T;CSQ_HGVSp=NP_065390.1:p.Asp27%3D;CSQ_HGVSg=14:g.35873770G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=313117;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Ectodermal_dysplasia_and_immunodeficiency_2¬_specified¬_provided;CSQ_gnomADg_AC=8464;CSQ_gnomADg_AN=30452;CSQ_gnomADg_AF=0.277946;CSQ_gnomADe_AC=60008;CSQ_gnomADe_AN=210988;CSQ_gnomADe_AF=0.284414;CSQ_gnomADe_Hom=8933;CSQ_COSMICcMuts=COSV53751429&COSV53751429;CSQ_COSMICncMuts=COSV53751429&COSV53751429&COSV53751429;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NFKBIA:D27D;CSQ_CADD_PHRED=12.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,20:106:0.18868:65:-100:0.0783:7,5,2,2,2,2,27,27,14,13,12,13:100:100 +14 36991098 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=NKX2-1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001079668.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.36991098C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=647;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0209006;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.484 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,21:154:0.13636:65:-100:0.1149:3,8,0,6,4,0,19,60,15,27,10,23:100:100 +14 36991098 . C G 100 PASS DP=154;CSQ_Allele=G;CSQ_SYMBOL=NKX2-1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_003317.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.36991098C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=647;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0209006;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.484 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,21:154:0.13636:65:-100:0.1149:3,8,0,6,4,0,19,60,15,27,10,23:100:100 +14 38053842 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=FOXA1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38053842T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1958;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0633411;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.783 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,6:125:0.048:65:-96.2334:0.1007:1,2,0,1,1,1,31,41,14,15,10,14:75.362:100 +14 38054085 . T G 100 PASS DP=67;CSQ_Allele=G;CSQ_SYMBOL=FOXA1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38054085T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23566;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.764088;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.501 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,27:67:0.40299:65:-100:0.3495:3,6,4,7,1,6,14,19,7,13,5,9:100:100 +14 38054375 . C T 100 PASS DP=69;CSQ_Allele=T;CSQ_SYMBOL=FOXA1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38054375C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1835;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0593237;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,8:69:0.11594:65:-100:0.4344:1,3,0,3,0,1,11,21,2,12,7,16:84.083:100 +14 38055101 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=FOXA1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38055101A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23072;CSQ_gnomADg_AN=30748;CSQ_gnomADg_AF=0.750358;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.797 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,50:113:0.44248:65:-100:0.2517:8,10,2,14,7,9,19,25,7,30,10,22:100:100 +14 38055599 . C G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=FOXA1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38055599C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,17:131:0.12977:65:-100:0.1088:6,4,2,3,1,1,18,38,14,20,10,31:100:100 +14 38058622 . AC A 100 PASS DP=123;CSQ_Allele=-;CSQ_SYMBOL=FOXA1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38058625del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15748;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.510305;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.911 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,58:123:0.47154:65:-100:0:10,12,8,9,6,13,20,28,17,13,11,34:100:100 +14 38061742 . C T 100 PASS DP=88;CSQ_Allele=T;CSQ_SYMBOL=FOXA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=NM_004496.5:c.247G>A;CSQ_HGVSp=NP_004487.2:p.Ala83Thr;CSQ_HGVSg=14:g.38061742C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17713;CSQ_gnomADg_AN=30828;CSQ_gnomADg_AF=0.574575;CSQ_gnomADe_AC=149313;CSQ_gnomADe_AN=242356;CSQ_gnomADe_AF=0.61609;CSQ_gnomADe_Hom=47141;CSQ_COSMICcMuts=COSV51649579&COSV51649579;CSQ_COSMICncMuts=COSV51649579&COSV51649579&COSV51649579;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.030;CSQ_Mastermind_MMID3=FOXA1:A83T;CSQ_CADD_PHRED=19.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,47:88:0.53409:65:-100:0.2212:5,15,6,5,10,6,16,25,10,11,15,11:100:100 +14 38064738 . G T 100 PASS DP=70;CSQ_Allele=T;CSQ_SYMBOL=FOXA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38064738G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18659;CSQ_gnomADg_AN=30574;CSQ_gnomADg_AF=0.61029;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.30 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,29:70:0.41429:65:-100:0.1139:5,8,4,4,2,6,23,14,10,7,5,11:100:100 +14 38065813 . T G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=FOXA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38065813T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17776;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.574829;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TTC6:5UTR&TTC6:5UTRint&TTC6:5UTRintd;CSQ_CADD_PHRED=6.833 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,62:136:0.45588:65:-100:0.1169:7,15,7,15,5,13,22,37,14,29,15,19:100:100 +14 38066183 . T TA 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=FOXA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38066190dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.78 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,7:89:0.07865:65:-100:0:0,2,2,3,0,0,10,30,12,12,6,19:100:100 +14 38067036 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=FOXA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38067036G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.421 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,6:140:0.04286:65:-95.1685:0.1463:0,2,0,2,1,1,16,47,13,28,15,21:72.432:100 +14 38067989 . C G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=FOXA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38067989C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=33;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.00106672;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.028 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,19:135:0.14074:65:-100:0.1401:4,6,2,3,1,3,31,35,20,19,11,19:100:100 +14 38068226 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=FOXA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38068226G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,7:123:0.05691:65:-100:0.1338:3,2,0,1,1,0,27,39,12,21,9,15:81.905:100 +14 38069192 . C T 100 PASS DP=113;CSQ_Allele=T;CSQ_SYMBOL=FOXA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004496.5;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=14:g.38069192C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=547;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.0176794;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.231 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,6:113:0.0531:65:-100:0.1752:1,2,1,0,0,2,18,40,19,14,8,14:75.735:100 +14 68353886 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=RAD51B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_133509.5;CSQ_HGVSc=NM_133509.5:c.721T>C;CSQ_HGVSp=NP_598193.2:p.Ser241Pro;CSQ_HGVSg=14:g.68353886T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66843648&COSV66843648&COSV66843648&COSV66843648&COSV66843648;CSQ_COSMICncMuts=COSV66843648;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.179;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.47 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,9:107:0.08411:65:-100:0.144:1,6,1,0,0,1,15,49,8,8,7,20:100:100 +14 68353886 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=RAD51B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_133510.4;CSQ_HGVSc=NM_133510.4:c.721T>C;CSQ_HGVSp=NP_598194.1:p.Ser241Pro;CSQ_HGVSg=14:g.68353886T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV66843648&COSV66843648&COSV66843648&COSV66843648&COSV66843648;CSQ_COSMICncMuts=COSV66843648;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.179;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.47 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,9:107:0.08411:65:-100:0.144:1,6,1,0,0,1,15,49,8,8,7,20:100:100 +14 81558938 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=TSHR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_000369.5;CSQ_HGVSc=NM_000369.5:c.531T>C;CSQ_HGVSp=NP_000360.2:p.Asn177%3D;CSQ_HGVSg=14:g.81558938T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53315103&COSV53315103&COSV53315103&COSV53315103&COSV53315103;CSQ_COSMICncMuts=COSV53315103;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,14:137:0.10219:65:-100:0.0987:3,2,0,4,2,3,21,47,9,26,13,21:100:100 +14 81558938 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=TSHR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/9;CSQ_INTRON=.;CSQ_Feature=NM_001142626.3;CSQ_HGVSc=NM_001142626.3:c.531T>C;CSQ_HGVSp=NP_001136098.1:p.Asn177%3D;CSQ_HGVSg=14:g.81558938T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53315103&COSV53315103&COSV53315103&COSV53315103&COSV53315103;CSQ_COSMICncMuts=COSV53315103;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.55 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,14:137:0.10219:65:-100:0.0987:3,2,0,4,2,3,21,47,9,26,13,21:100:100 +14 81562998 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=TSHR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_000369.5;CSQ_HGVSc=NM_000369.5:c.561T>C;CSQ_HGVSp=NP_000360.2:p.Asn187%3D;CSQ_HGVSg=14:g.81562998T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255953;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism_due_to_TSH_receptor_mutations&Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor¬_specified¬_provided;CSQ_gnomADg_AC=8238;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.266154;CSQ_gnomADe_AC=44532;CSQ_gnomADe_AN=245638;CSQ_gnomADe_AF=0.181291;CSQ_gnomADe_Hom=5522;CSQ_COSMICcMuts=COSV53313911&COSV53313911&COSV53313911&COSV53313911&COSV53313911;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSHR:N187N;CSQ_CADD_PHRED=9.806 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,39:140:0.27857:65:-100:0.1617:7,12,0,11,3,6,15,46,7,32,10,30:100:100 +14 81562998 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=TSHR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/9;CSQ_INTRON=.;CSQ_Feature=NM_001142626.3;CSQ_HGVSc=NM_001142626.3:c.561T>C;CSQ_HGVSp=NP_001136098.1:p.Asn187%3D;CSQ_HGVSg=14:g.81562998T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=255953;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism_due_to_TSH_receptor_mutations&Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor¬_specified¬_provided;CSQ_gnomADg_AC=8238;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.266154;CSQ_gnomADe_AC=44532;CSQ_gnomADe_AN=245638;CSQ_gnomADe_AF=0.181291;CSQ_gnomADe_Hom=5522;CSQ_COSMICcMuts=COSV53313911&COSV53313911&COSV53313911&COSV53313911&COSV53313911;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSHR:N187N;CSQ_CADD_PHRED=9.806 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,39:140:0.27857:65:-100:0.1617:7,12,0,11,3,6,15,46,7,32,10,30:100:100 +14 81574959 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=TSHR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/9;CSQ_Feature=NM_000369.5;CSQ_HGVSc=NM_000369.5:c.692+163A>G;CSQ_HGVSp=.;CSQ_HGVSg=14:g.81574959A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1284491;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism_due_to_TSH_receptor_mutations&Familial_gestational_hyperthyroidism&Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor¬_specified¬_provided;CSQ_gnomADg_AC=19195;CSQ_gnomADg_AN=30668;CSQ_gnomADg_AF=0.625897;CSQ_gnomADe_AC=159021;CSQ_gnomADe_AN=246038;CSQ_gnomADe_AF=0.646327;CSQ_gnomADe_Hom=52526;CSQ_COSMICcMuts=COSV53318816&COSV53318816&COSV53318816&COSV53318816&COSV53318816;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSHR:L231int&TSHR:L231intd&TSHR:L232L&TSHR:L253L;CSQ_CADD_PHRED=3.977 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,72:126:0.57143:65:-100:0.1923:11,28,4,13,4,12,20,47,7,23,5,24:100:100 +14 81574959 . A G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=TSHR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001142626.3;CSQ_HGVSc=NM_001142626.3:c.759A>G;CSQ_HGVSp=NP_001136098.1:p.Leu253%3D;CSQ_HGVSg=14:g.81574959A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1284491;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism_due_to_TSH_receptor_mutations&Familial_gestational_hyperthyroidism&Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor¬_specified¬_provided;CSQ_gnomADg_AC=19195;CSQ_gnomADg_AN=30668;CSQ_gnomADg_AF=0.625897;CSQ_gnomADe_AC=159021;CSQ_gnomADe_AN=246038;CSQ_gnomADe_AF=0.646327;CSQ_gnomADe_Hom=52526;CSQ_COSMICcMuts=COSV53318816&COSV53318816&COSV53318816&COSV53318816&COSV53318816;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSHR:L231int&TSHR:L231intd&TSHR:L232L&TSHR:L253L;CSQ_CADD_PHRED=3.977 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,72:126:0.57143:65:-100:0.1923:11,28,4,13,4,12,20,47,7,23,5,24:100:100 +14 81575005 . C A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=TSHR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/9;CSQ_Feature=NM_000369.5;CSQ_HGVSc=NM_000369.5:c.692+209C>A;CSQ_HGVSp=.;CSQ_HGVSg=14:g.81575005C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135403;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism_due_to_TSH_receptor_mutations&Familial_gestational_hyperthyroidism&Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor¬_specified¬_provided;CSQ_gnomADg_AC=19171;CSQ_gnomADg_AN=30758;CSQ_gnomADg_AF=0.623285;CSQ_gnomADe_AC=158464;CSQ_gnomADe_AN=245312;CSQ_gnomADe_AF=0.645969;CSQ_gnomADe_Hom=52318;CSQ_COSMICcMuts=COSV53335435&COSV53335435&COSV53335435&COSV53335435&COSV53335435;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSHR:L231int&TSHR:L231intd&TSHR:R248S&TSHR:R269S;CSQ_CADD_PHRED=0.622 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,79:128:0.61719:65:-100:0.1795:13,29,9,9,8,11,20,45,14,15,12,22:100:100 +14 81575005 . C A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=TSHR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001142626.3;CSQ_HGVSc=NM_001142626.3:c.805C>A;CSQ_HGVSp=NP_001136098.1:p.Arg269Ser;CSQ_HGVSg=14:g.81575005C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135403;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism_due_to_TSH_receptor_mutations&Familial_gestational_hyperthyroidism&Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor¬_specified¬_provided;CSQ_gnomADg_AC=19171;CSQ_gnomADg_AN=30758;CSQ_gnomADg_AF=0.623285;CSQ_gnomADe_AC=158464;CSQ_gnomADe_AN=245312;CSQ_gnomADe_AF=0.645969;CSQ_gnomADe_Hom=52318;CSQ_COSMICcMuts=COSV53335435&COSV53335435&COSV53335435&COSV53335435&COSV53335435;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.113;CSQ_Mastermind_MMID3=TSHR:L231int&TSHR:L231intd&TSHR:R248S&TSHR:R269S;CSQ_CADD_PHRED=0.622 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,79:128:0.61719:65:-100:0.1795:13,29,9,9,8,11,20,45,14,15,12,22:100:100 +14 81606150 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=TSHR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_000369.5;CSQ_HGVSc=NM_000369.5:c.820C>T;CSQ_HGVSp=NP_000360.2:p.Arg274Trp;CSQ_HGVSg=14:g.81606150C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=3.22851e-05;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=246256;CSQ_gnomADe_AF=2.03041e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53315127&COSV53315127;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=0.450;CSQ_Mastermind_MMID3=TSHR:R274W;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,21:144:0.14583:65:-100:0.122:1,9,0,5,1,5,25,49,15,22,12,21:100:100 +14 81610052 . C T 100 PASS DP=189;CSQ_Allele=T;CSQ_SYMBOL=TSHR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_000369.5;CSQ_HGVSc=NM_000369.5:c.1650C>T;CSQ_HGVSp=NP_000360.2:p.Phe550%3D;CSQ_HGVSg=14:g.81610052C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53317581&COSV53317581;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.151 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,13:189:0.06878:65:-100:0.1209:1,5,1,3,0,3,30,67,14,33,14,31:100:100 +14 81610143 . G T 100 PASS DP=182;CSQ_Allele=T;CSQ_SYMBOL=TSHR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_000369.5;CSQ_HGVSc=NM_000369.5:c.1741G>T;CSQ_HGVSp=NP_000360.2:p.Ala581Ser;CSQ_HGVSg=14:g.81610143G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53317596&COSV53317596;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=0.202;CSQ_Mastermind_MMID3=TSHR:A581S;CSQ_CADD_PHRED=22.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,11:182:0.06044:65:-100:0.1651:0,3,3,5,0,0,34,65,20,28,15,20:100:100 +14 81610583 . G C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=TSHR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_000369.5;CSQ_HGVSc=NM_000369.5:c.2181G>C;CSQ_HGVSp=NP_000360.2:p.Glu727Asp;CSQ_HGVSg=14:g.81610583G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=135400;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hypothyroidism_due_to_TSH_receptor_mutations&Familial_gestational_hyperthyroidism&Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor¬_specified¬_provided;CSQ_gnomADg_AC=27789;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.897694;CSQ_gnomADe_AC=220175;CSQ_gnomADe_AN=245788;CSQ_gnomADe_AF=0.895792;CSQ_gnomADe_Hom=98812;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.073;CSQ_Mastermind_MMID3=TSHR:E727D;CSQ_CADD_PHRED=1.782 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,135:135:1:65:-100:0.1718:21,56,4,22,8,24,21,56,4,22,8,24:100:100 +14 95579534 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=DICER1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/25;CSQ_INTRON=.;CSQ_Feature=NM_001195573.1;CSQ_HGVSc=NM_001195573.1:c.1935G>A;CSQ_HGVSp=NP_001182502.1:p.Pro645%3D;CSQ_HGVSg=14:g.95579534C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=221180;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&DICER1_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=320;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0103319;CSQ_gnomADe_AC=2552;CSQ_gnomADe_AN=246098;CSQ_gnomADe_AF=0.0103699;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV58618234&COSV58618234&COSV58618234&COSV58618234&COSV58618234;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DICER1:P645P;CSQ_CADD_PHRED=7.548 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,8:128:0.0625:65:-97.4473:0.1688:2,2,0,0,2,2,28,42,12,16,11,19:90.565:100 +14 95579534 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=DICER1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/27;CSQ_INTRON=.;CSQ_Feature=NM_001271282.3;CSQ_HGVSc=NM_001271282.3:c.1935G>A;CSQ_HGVSp=NP_001258211.1:p.Pro645%3D;CSQ_HGVSg=14:g.95579534C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=221180;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&DICER1_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=320;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0103319;CSQ_gnomADe_AC=2552;CSQ_gnomADe_AN=246098;CSQ_gnomADe_AF=0.0103699;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV58618234&COSV58618234&COSV58618234&COSV58618234&COSV58618234;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DICER1:P645P;CSQ_CADD_PHRED=7.548 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,8:128:0.0625:65:-97.4473:0.1688:2,2,0,0,2,2,28,42,12,16,11,19:90.565:100 +14 95579534 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=DICER1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/29;CSQ_INTRON=.;CSQ_Feature=NM_030621.4;CSQ_HGVSc=NM_030621.4:c.1935G>A;CSQ_HGVSp=NP_085124.2:p.Pro645%3D;CSQ_HGVSg=14:g.95579534C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=221180;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&DICER1_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=320;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0103319;CSQ_gnomADe_AC=2552;CSQ_gnomADe_AN=246098;CSQ_gnomADe_AF=0.0103699;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV58618234&COSV58618234&COSV58618234&COSV58618234&COSV58618234;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DICER1:P645P;CSQ_CADD_PHRED=7.548 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,8:128:0.0625:65:-97.4473:0.1688:2,2,0,0,2,2,28,42,12,16,11,19:90.565:100 +14 95592958 . C T 100 PASS DP=117;CSQ_Allele=T;CSQ_SYMBOL=DICER1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/25;CSQ_INTRON=.;CSQ_Feature=NM_001195573.1;CSQ_HGVSc=NM_001195573.1:c.862G>A;CSQ_HGVSp=NP_001182502.1:p.Val288Ile;CSQ_HGVSg=14:g.95592958C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=543595;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&DICER1_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58617664&COSV58617664&COSV58617664&COSV58617664&COSV58617664;CSQ_COSMICncMuts=COSV58617664&COSV58617664;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.043;CSQ_Mastermind_MMID3=DICER1:V288I;CSQ_CADD_PHRED=19.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-98.3625:0.1643:0,3,0,0,2,1,16,35,8,24,9,25:62.126:100 +14 95592958 . C T 100 PASS DP=117;CSQ_Allele=T;CSQ_SYMBOL=DICER1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/27;CSQ_INTRON=.;CSQ_Feature=NM_001271282.3;CSQ_HGVSc=NM_001271282.3:c.862G>A;CSQ_HGVSp=NP_001258211.1:p.Val288Ile;CSQ_HGVSg=14:g.95592958C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=543595;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&DICER1_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58617664&COSV58617664&COSV58617664&COSV58617664&COSV58617664;CSQ_COSMICncMuts=COSV58617664&COSV58617664;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.043;CSQ_Mastermind_MMID3=DICER1:V288I;CSQ_CADD_PHRED=19.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-98.3625:0.1643:0,3,0,0,2,1,16,35,8,24,9,25:62.126:100 +14 95592958 . C T 100 PASS DP=117;CSQ_Allele=T;CSQ_SYMBOL=DICER1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/29;CSQ_INTRON=.;CSQ_Feature=NM_030621.4;CSQ_HGVSc=NM_030621.4:c.862G>A;CSQ_HGVSp=NP_085124.2:p.Val288Ile;CSQ_HGVSg=14:g.95592958C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=543595;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&DICER1_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58617664&COSV58617664&COSV58617664&COSV58617664&COSV58617664;CSQ_COSMICncMuts=COSV58617664&COSV58617664;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.043;CSQ_Mastermind_MMID3=DICER1:V288I;CSQ_CADD_PHRED=19.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-98.3625:0.1643:0,3,0,0,2,1,16,35,8,24,9,25:62.126:100 +14 102549616 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=HSP90AA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/12;CSQ_INTRON=.;CSQ_Feature=NM_001017963.3;CSQ_HGVSc=NM_001017963.3:c.1876A>G;CSQ_HGVSp=NP_001017963.2:p.Asn626Asp;CSQ_HGVSg=14:g.102549616T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53487695&COSV53487695&COSV53487695;CSQ_COSMICncMuts=COSV53487695&COSV53487695&COSV53487695&COSV53487695&COSV53487695&COSV53487695;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.161;CSQ_Mastermind_MMID3=HSP90AA1:N626D;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,14:125:0.112:65:-100:0.1722:5,4,1,0,1,3,28,37,15,13,9,23:100:100 +14 102549616 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=HSP90AA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/11;CSQ_INTRON=.;CSQ_Feature=NM_005348.4;CSQ_HGVSc=NM_005348.4:c.1510A>G;CSQ_HGVSp=NP_005339.3:p.Asn504Asp;CSQ_HGVSg=14:g.102549616T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53487695&COSV53487695&COSV53487695;CSQ_COSMICncMuts=COSV53487695&COSV53487695&COSV53487695&COSV53487695&COSV53487695&COSV53487695;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.161;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,14:125:0.112:65:-100:0.1722:5,4,1,0,1,3,28,37,15,13,9,23:100:100 +14 102550291 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=HSP90AA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/12;CSQ_INTRON=.;CSQ_Feature=NM_001017963.3;CSQ_HGVSc=NM_001017963.3:c.1543G>A;CSQ_HGVSp=NP_001017963.2:p.Asp515Asn;CSQ_HGVSg=14:g.102550291C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53487710&COSV53487710&COSV53487710;CSQ_COSMICncMuts=COSV53487710&COSV53487710&COSV53487710&COSV53487710;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.425;CSQ_Mastermind_MMID3=HSP90AA1:D515N;CSQ_CADD_PHRED=28.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,13:127:0.10236:65:-100:0.1361:1,2,1,2,1,6,19,35,14,27,7,25:100:100 +14 102550291 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=HSP90AA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_005348.4;CSQ_HGVSc=NM_005348.4:c.1177G>A;CSQ_HGVSp=NP_005339.3:p.Asp393Asn;CSQ_HGVSg=14:g.102550291C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53487710&COSV53487710&COSV53487710;CSQ_COSMICncMuts=COSV53487710&COSV53487710&COSV53487710&COSV53487710;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.425;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=28.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,13:127:0.10236:65:-100:0.1361:1,2,1,2,1,6,19,35,14,27,7,25:100:100 +14 102550803 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=HSP90AA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/12;CSQ_INTRON=.;CSQ_Feature=NM_001017963.3;CSQ_HGVSc=NM_001017963.3:c.1446C>T;CSQ_HGVSp=NP_001017963.2:p.Asn482%3D;CSQ_HGVSg=14:g.102550803G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21165;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.684376;CSQ_gnomADe_AC=196387;CSQ_gnomADe_AN=246190;CSQ_gnomADe_AF=0.797705;CSQ_gnomADe_Hom=80294;CSQ_COSMICcMuts=COSV53488817&COSV53488817&COSV53488817;CSQ_COSMICncMuts=COSV53488817&COSV53488817&COSV53488817&COSV53488817&COSV53488817;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HSP90AA1:N360N&HSP90AA1:N482N;CSQ_CADD_PHRED=10.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,111:132:0.84091:65:-100:0.102:15,44,7,15,5,25,18,55,8,17,5,29:100:100 +14 102550803 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=HSP90AA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_005348.4;CSQ_HGVSc=NM_005348.4:c.1080C>T;CSQ_HGVSp=NP_005339.3:p.Asn360%3D;CSQ_HGVSg=14:g.102550803G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21165;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.684376;CSQ_gnomADe_AC=196387;CSQ_gnomADe_AN=246190;CSQ_gnomADe_AF=0.797705;CSQ_gnomADe_Hom=80294;CSQ_COSMICcMuts=COSV53488817&COSV53488817&COSV53488817;CSQ_COSMICncMuts=COSV53488817&COSV53488817&COSV53488817&COSV53488817&COSV53488817;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HSP90AA1:N360N&HSP90AA1:N482N;CSQ_CADD_PHRED=10.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,111:132:0.84091:65:-100:0.102:15,44,7,15,5,25,18,55,8,17,5,29:100:100 +14 102568296 . G A 100 PASS DP=184;CSQ_Allele=A;CSQ_SYMBOL=HSP90AA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_001017963.3;CSQ_HGVSc=NM_001017963.3:c.282C>T;CSQ_HGVSp=NP_001017963.2:p.Thr94%3D;CSQ_HGVSg=14:g.102568296G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22151;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.716397;CSQ_gnomADe_AC=198588;CSQ_gnomADe_AN=246240;CSQ_gnomADe_AF=0.806481;CSQ_gnomADe_Hom=82332;CSQ_COSMICcMuts=COSV58234662;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HSP90AA1:T94T;CSQ_CADD_PHRED=0.192 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,157:184:0.85326:65:-100:0.1024:20,51,12,27,14,33,24,63,15,31,15,36:100:100 +14 102568367 . T A 100 PASS DP=181;CSQ_Allele=A;CSQ_SYMBOL=HSP90AA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/12;CSQ_INTRON=.;CSQ_Feature=NM_001017963.3;CSQ_HGVSc=NM_001017963.3:c.211A>T;CSQ_HGVSp=NP_001017963.2:p.Met71Leu;CSQ_HGVSg=14:g.102568367T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25437;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.822938;CSQ_gnomADe_AC=214186;CSQ_gnomADe_AN=246228;CSQ_gnomADe_AF=0.869869;CSQ_gnomADe_Hom=93795;CSQ_COSMICcMuts=COSV58233514;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.005;CSQ_Mastermind_MMID3=HSP90AA1:M71L;CSQ_CADD_PHRED=0.083 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:17,164:181:0.90608:65:-100:0.1256:20,53,17,24,15,35,22,58,18,27,16,40:100:100 +14 105236741 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=AKT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001014431.2;CSQ_HGVSc=NM_001014431.2:c.1380T>C;CSQ_HGVSp=NP_001014431.1:p.Cys460%3D;CSQ_HGVSg=14:g.105236741A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=240108;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cowden_syndrome_6&Inborn_genetic_diseases;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.000387772;CSQ_gnomADe_AC=21;CSQ_gnomADe_AN=239418;CSQ_gnomADe_AF=8.77127e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.591 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,24:150:0.16:65:-100:0.2188:3,10,4,3,1,3,22,58,13,25,11,21:100:100 +14 105236741 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=AKT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005163.2;CSQ_HGVSc=NM_005163.2:c.1380T>C;CSQ_HGVSp=NP_005154.2:p.Cys460%3D;CSQ_HGVSg=14:g.105236741A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=240108;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cowden_syndrome_6&Inborn_genetic_diseases;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.000387772;CSQ_gnomADe_AC=21;CSQ_gnomADe_AN=239418;CSQ_gnomADe_AF=8.77127e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.591 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,24:150:0.16:65:-100:0.2188:3,10,4,3,1,3,22,58,13,25,11,21:100:100 +14 105239894 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=AKT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/14;CSQ_INTRON=.;CSQ_Feature=NM_001014431.2;CSQ_HGVSc=NM_001014431.2:c.726G>A;CSQ_HGVSp=NP_001014431.1:p.Glu242%3D;CSQ_HGVSg=14:g.105239894C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=498670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cowden_syndrome_6¬_specified¬_provided;CSQ_gnomADg_AC=6984;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.226371;CSQ_gnomADe_AC=69118;CSQ_gnomADe_AN=232626;CSQ_gnomADe_AF=0.297121;CSQ_gnomADe_Hom=12028;CSQ_COSMICcMuts=COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655;CSQ_COSMICncMuts=COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AKT1:E242E;CSQ_CADD_PHRED=11.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,33:176:0.1875:65:-100:0.1737:6,15,3,4,1,4,29,62,14,27,15,29:100:100 +14 105239894 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=AKT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/14;CSQ_INTRON=.;CSQ_Feature=NM_005163.2;CSQ_HGVSc=NM_005163.2:c.726G>A;CSQ_HGVSp=NP_005154.2:p.Glu242%3D;CSQ_HGVSg=14:g.105239894C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=498670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cowden_syndrome_6¬_specified¬_provided;CSQ_gnomADg_AC=6984;CSQ_gnomADg_AN=30852;CSQ_gnomADg_AF=0.226371;CSQ_gnomADe_AC=69118;CSQ_gnomADe_AN=232626;CSQ_gnomADe_AF=0.297121;CSQ_gnomADe_Hom=12028;CSQ_COSMICcMuts=COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655;CSQ_COSMICncMuts=COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655&COSV62571655;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AKT1:E242E;CSQ_CADD_PHRED=11.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,33:176:0.1875:65:-100:0.1737:6,15,3,4,1,4,29,62,14,27,15,29:100:100 +14 105241304 . G A 100 PASS DP=202;CSQ_Allele=A;CSQ_SYMBOL=AKT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/14;CSQ_INTRON=.;CSQ_Feature=NM_001014431.2;CSQ_HGVSc=NM_001014431.2:c.604C>T;CSQ_HGVSp=NP_001014431.1:p.Leu202%3D;CSQ_HGVSg=14:g.105241304G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=416469;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cowden_syndrome_6¬_specified¬_provided;CSQ_gnomADg_AC=1141;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.0369591;CSQ_gnomADe_AC=2313;CSQ_gnomADe_AN=245152;CSQ_gnomADe_AF=0.00943496;CSQ_gnomADe_Hom=141;CSQ_COSMICcMuts=COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011;CSQ_COSMICncMuts=COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.25;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AKT1:L202L;CSQ_CADD_PHRED=10.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:183,19:202:0.09406:65:-100:0.1217:2,7,2,4,2,2,35,71,16,27,19,34:100:100 +14 105241304 . G A 100 PASS DP=202;CSQ_Allele=A;CSQ_SYMBOL=AKT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/14;CSQ_INTRON=.;CSQ_Feature=NM_005163.2;CSQ_HGVSc=NM_005163.2:c.604C>T;CSQ_HGVSp=NP_005154.2:p.Leu202%3D;CSQ_HGVSg=14:g.105241304G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=416469;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cowden_syndrome_6¬_specified¬_provided;CSQ_gnomADg_AC=1141;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.0369591;CSQ_gnomADe_AC=2313;CSQ_gnomADe_AN=245152;CSQ_gnomADe_AF=0.00943496;CSQ_gnomADe_Hom=141;CSQ_COSMICcMuts=COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011;CSQ_COSMICncMuts=COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011&COSV104422011;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.25;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AKT1:L202L;CSQ_CADD_PHRED=10.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:183,19:202:0.09406:65:-100:0.1217:2,7,2,4,2,2,35,71,16,27,19,34:100:100 +14 105246551 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=AKT1;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/14;CSQ_INTRON=.;CSQ_Feature=NM_001014431.2;CSQ_HGVSc=NM_001014431.2:c.49G>A;CSQ_HGVSp=NP_001014431.1:p.Glu17Lys;CSQ_HGVSg=14:g.105246551C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=13983;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Malignant_melanoma_of_skin&Lung_adenocarcinoma&Small_cell_lung_carcinoma&Non-small_cell_lung_carcinoma&Squamous_cell_lung_carcinoma&Neoplasm_of_uterine_cervix&Gastric_adenocarcinoma&Thyroid_tumor&Neoplasm_of_ovary&Prostate_neoplasm&Neoplasm_of_the_large_intestine&Carcinoma_of_colon&Bone_osteosarcoma&Breast_adenocarcinoma&Prostate_adenocarcinoma&Proteus_syndrome&Squamous_cell_carcinoma_of_the_head_and_neck&Cowden_syndrome_6&Tumor_of_meninges&Endometrial_Endometrioid_Adenocarcinoma&_Variant_with_Squamous_Differentiation¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245298;CSQ_gnomADe_AF=4.07667e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62571334&COSV62571334&COSV62571334&COSV62571334&COSV62571334&COSV62571334;CSQ_COSMICncMuts=COSV62571334&COSV62571334&COSV62571334&COSV62571334;CSQ_CGC=oncogene;CSQ_Hotspots=AKT1:E17;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.510;CSQ_Mastermind_MMID3=AKT1:E17K&AKT1:E17R&AKT1:G16sra;CSQ_CADD_PHRED=25.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,8:161:0.04969:65:-93.8296:0.1481:1,4,1,2,0,0,27,49,16,30,8,31:95.316:100 +14 105246551 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=AKT1;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/14;CSQ_INTRON=.;CSQ_Feature=NM_005163.2;CSQ_HGVSc=NM_005163.2:c.49G>A;CSQ_HGVSp=NP_005154.2:p.Glu17Lys;CSQ_HGVSg=14:g.105246551C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=13983;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hepatocellular_carcinoma&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Malignant_melanoma_of_skin&Lung_adenocarcinoma&Small_cell_lung_carcinoma&Non-small_cell_lung_carcinoma&Squamous_cell_lung_carcinoma&Neoplasm_of_uterine_cervix&Gastric_adenocarcinoma&Thyroid_tumor&Neoplasm_of_ovary&Prostate_neoplasm&Neoplasm_of_the_large_intestine&Carcinoma_of_colon&Bone_osteosarcoma&Breast_adenocarcinoma&Prostate_adenocarcinoma&Proteus_syndrome&Squamous_cell_carcinoma_of_the_head_and_neck&Cowden_syndrome_6&Tumor_of_meninges&Endometrial_Endometrioid_Adenocarcinoma&_Variant_with_Squamous_Differentiation¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245298;CSQ_gnomADe_AF=4.07667e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62571334&COSV62571334&COSV62571334&COSV62571334&COSV62571334&COSV62571334;CSQ_COSMICncMuts=COSV62571334&COSV62571334&COSV62571334&COSV62571334;CSQ_CGC=oncogene;CSQ_Hotspots=AKT1:E17;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.510;CSQ_Mastermind_MMID3=AKT1:E17K&AKT1:E17R&AKT1:G16sra;CSQ_CADD_PHRED=25.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,8:161:0.04969:65:-93.8296:0.1481:1,4,1,2,0,0,27,49,16,30,8,31:95.316:100 +15 33009780 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=GREM1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_013372.7;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=15:g.33009780C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1274709;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=2556;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.0828364;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.761 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,26:142:0.1831:65:-100:0.1792:6,8,3,5,3,1,28,32,19,28,12,23:100:100 +15 33023486 . C A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=GREM1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_013372.7;CSQ_HGVSc=NM_013372.7:c.*40C>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.33023486C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1282623;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8081;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.261589;CSQ_gnomADe_AC=62365;CSQ_gnomADe_AN=216008;CSQ_gnomADe_AF=0.288716;CSQ_gnomADe_Hom=10095;CSQ_COSMICcMuts=COSV55715058&COSV55715058&COSV55715058;CSQ_COSMICncMuts=COSV55715058;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GREM1:3UTR;CSQ_CADD_PHRED=12.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,8:118:0.0678:65:-98.5248:0.1387:1,3,0,0,2,2,22,47,6,12,14,17:91.863:100 +15 33033107 . A G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=GREM1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_013372.7;CSQ_HGVSc=NM_013372.7:c.*9661A>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.33033107A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2738;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0884424;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GREM1:3UTR;CSQ_CADD_PHRED=2.497 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,11:150:0.07333:65:-100:0.1329:1,1,1,1,5,2,31,51,12,24,12,20:100:100 +15 34638544 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.100+308G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34638544G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18332;CSQ_gnomADg_AN=30642;CSQ_gnomADg_AF=0.598264;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,61:168:0.3631:65:-100:0.1642:13,19,5,7,5,12,19,57,13,25,19,35:100:100 +15 34638544 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.71-1626G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34638544G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18332;CSQ_gnomADg_AN=30642;CSQ_gnomADg_AF=0.598264;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,61:168:0.3631:65:-100:0.1642:13,19,5,7,5,12,19,57,13,25,19,35:100:100 +15 34638544 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.16+308G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34638544G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18332;CSQ_gnomADg_AN=30642;CSQ_gnomADg_AF=0.598264;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,61:168:0.3631:65:-100:0.1642:13,19,5,7,5,12,19,57,13,25,19,35:100:100 +15 34638910 . C A 100 PASS DP=59;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.100+674C>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34638910C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11544;CSQ_gnomADg_AN=29098;CSQ_gnomADg_AF=0.396728;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.421 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,30:59:0.50847:65:-100:0.2805:4,5,5,6,6,4,13,9,13,9,9,6:100:100 +15 34638910 . C A 100 PASS DP=59;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.71-1260C>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34638910C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11544;CSQ_gnomADg_AN=29098;CSQ_gnomADg_AF=0.396728;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.421 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,30:59:0.50847:65:-100:0.2805:4,5,5,6,6,4,13,9,13,9,9,6:100:100 +15 34638910 . C A 100 PASS DP=59;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.16+674C>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34638910C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11544;CSQ_gnomADg_AN=29098;CSQ_gnomADg_AF=0.396728;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.421 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,30:59:0.50847:65:-100:0.2805:4,5,5,6,6,4,13,9,13,9,9,6:100:100 +15 34639376 . T G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.101-794T>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34639376T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5868;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.190186;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.755 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,18:143:0.12587:65:-100:0.1588:3,7,2,1,0,5,25,48,9,30,6,25:100:100 +15 34639376 . T G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/6;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.71-794T>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34639376T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5868;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.190186;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.755 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,18:143:0.12587:65:-100:0.1588:3,7,2,1,0,5,25,48,9,30,6,25:100:100 +15 34639376 . T G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=NUTM1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/7;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.17-794T>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.34639376T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5868;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.190186;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.755 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,18:143:0.12587:65:-100:0.1588:3,7,2,1,0,5,25,48,9,30,6,25:100:100 +15 34640218 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.149C>T;CSQ_HGVSp=NP_001271221.2:p.Pro50Leu;CSQ_HGVSg=15:g.34640218C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27560;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.891102;CSQ_gnomADe_AC=238905;CSQ_gnomADe_AN=245986;CSQ_gnomADe_AF=0.971214;CSQ_gnomADe_Hom=117096;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.019;CSQ_Mastermind_MMID3=NUTM1:P22L&NUTM1:P40L&NUTM1:P50L;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,129:129:1:65:-100:0.1513:15,47,12,21,6,28,15,47,12,21,6,28:100:100 +15 34640218 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.119C>T;CSQ_HGVSp=NP_001271222.2:p.Pro40Leu;CSQ_HGVSg=15:g.34640218C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27560;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.891102;CSQ_gnomADe_AC=238905;CSQ_gnomADe_AN=245986;CSQ_gnomADe_AF=0.971214;CSQ_gnomADe_Hom=117096;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.019;CSQ_Mastermind_MMID3=NUTM1:P22L&NUTM1:P40L&NUTM1:P50L;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,129:129:1:65:-100:0.1513:15,47,12,21,6,28,15,47,12,21,6,28:100:100 +15 34640218 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.65C>T;CSQ_HGVSp=NP_786883.2:p.Pro22Leu;CSQ_HGVSg=15:g.34640218C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27560;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.891102;CSQ_gnomADe_AC=238905;CSQ_gnomADe_AN=245986;CSQ_gnomADe_AF=0.971214;CSQ_gnomADe_Hom=117096;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.02;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.019;CSQ_Mastermind_MMID3=NUTM1:P22L&NUTM1:P40L&NUTM1:P50L;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,129:129:1:65:-100:0.1513:15,47,12,21,6,28,15,47,12,21,6,28:100:100 +15 34640378 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=NUTM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.309T>C;CSQ_HGVSp=NP_001271221.2:p.Asp103%3D;CSQ_HGVSg=15:g.34640378T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29519;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.953703;CSQ_gnomADe_AC=243154;CSQ_gnomADe_AN=246132;CSQ_gnomADe_AF=0.987901;CSQ_gnomADe_Hom=120309;CSQ_COSMICcMuts=COSV60995641&COSV60995641&COSV60995641;CSQ_COSMICncMuts=COSV60995641;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NUTM1:D103D&NUTM1:D75D&NUTM1:D93D;CSQ_CADD_PHRED=0.272 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,137:137:1:65:-100:0.1796:17,45,10,31,14,20,17,45,10,31,14,20:100:100 +15 34640378 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=NUTM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.279T>C;CSQ_HGVSp=NP_001271222.2:p.Asp93%3D;CSQ_HGVSg=15:g.34640378T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29519;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.953703;CSQ_gnomADe_AC=243154;CSQ_gnomADe_AN=246132;CSQ_gnomADe_AF=0.987901;CSQ_gnomADe_Hom=120309;CSQ_COSMICcMuts=COSV60995641&COSV60995641&COSV60995641;CSQ_COSMICncMuts=COSV60995641;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NUTM1:D103D&NUTM1:D75D&NUTM1:D93D;CSQ_CADD_PHRED=0.272 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,137:137:1:65:-100:0.1796:17,45,10,31,14,20,17,45,10,31,14,20:100:100 +15 34640378 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=NUTM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.225T>C;CSQ_HGVSp=NP_786883.2:p.Asp75%3D;CSQ_HGVSg=15:g.34640378T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29519;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.953703;CSQ_gnomADe_AC=243154;CSQ_gnomADe_AN=246132;CSQ_gnomADe_AF=0.987901;CSQ_gnomADe_Hom=120309;CSQ_COSMICcMuts=COSV60995641&COSV60995641&COSV60995641;CSQ_COSMICncMuts=COSV60995641;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NUTM1:D103D&NUTM1:D75D&NUTM1:D93D;CSQ_CADD_PHRED=0.272 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,137:137:1:65:-100:0.1796:17,45,10,31,14,20,17,45,10,31,14,20:100:100 +15 34640796 . C A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.727C>A;CSQ_HGVSp=NP_001271221.2:p.Arg243Ser;CSQ_HGVSg=15:g.34640796C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61545783&COSV61545783&COSV61545783;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.278;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,16:136:0.11765:65:-100:0.1282:2,4,0,8,1,1,17,44,10,27,15,23:100:100 +15 34640796 . C A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.697C>A;CSQ_HGVSp=NP_001271222.2:p.Arg233Ser;CSQ_HGVSg=15:g.34640796C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61545783&COSV61545783&COSV61545783;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.278;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,16:136:0.11765:65:-100:0.1282:2,4,0,8,1,1,17,44,10,27,15,23:100:100 +15 34640796 . C A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.643C>A;CSQ_HGVSp=NP_786883.2:p.Arg215Ser;CSQ_HGVSg=15:g.34640796C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61545783&COSV61545783&COSV61545783;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.278;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,16:136:0.11765:65:-100:0.1282:2,4,0,8,1,1,17,44,10,27,15,23:100:100 +15 34648647 . T A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.2438T>A;CSQ_HGVSp=NP_001271221.2:p.Val813Glu;CSQ_HGVSg=15:g.34648647T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=538;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0174042;CSQ_gnomADe_AC=6247;CSQ_gnomADe_AN=244640;CSQ_gnomADe_AF=0.0255355;CSQ_gnomADe_Hom=110;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.025;CSQ_Mastermind_MMID3=NUTM1:V785E&NUTM1:V803E&NUTM1:V813E;CSQ_CADD_PHRED=2.196 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,23:114:0.20175:65:-100:0.1679:4,8,1,5,2,3,16,42,9,20,9,18:100:100 +15 34648647 . T A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.2408T>A;CSQ_HGVSp=NP_001271222.2:p.Val803Glu;CSQ_HGVSg=15:g.34648647T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=538;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0174042;CSQ_gnomADe_AC=6247;CSQ_gnomADe_AN=244640;CSQ_gnomADe_AF=0.0255355;CSQ_gnomADe_Hom=110;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.025;CSQ_Mastermind_MMID3=NUTM1:V785E&NUTM1:V803E&NUTM1:V813E;CSQ_CADD_PHRED=2.196 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,23:114:0.20175:65:-100:0.1679:4,8,1,5,2,3,16,42,9,20,9,18:100:100 +15 34648647 . T A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.2354T>A;CSQ_HGVSp=NP_786883.2:p.Val785Glu;CSQ_HGVSg=15:g.34648647T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=538;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0174042;CSQ_gnomADe_AC=6247;CSQ_gnomADe_AN=244640;CSQ_gnomADe_AF=0.0255355;CSQ_gnomADe_Hom=110;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.025;CSQ_Mastermind_MMID3=NUTM1:V785E&NUTM1:V803E&NUTM1:V813E;CSQ_CADD_PHRED=2.196 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,23:114:0.20175:65:-100:0.1679:4,8,1,5,2,3,16,42,9,20,9,18:100:100 +15 34649211 . C A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.3002C>A;CSQ_HGVSp=NP_001271221.2:p.Thr1001Asn;CSQ_HGVSg=15:g.34649211C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1765;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0570717;CSQ_gnomADe_AC=19766;CSQ_gnomADe_AN=246158;CSQ_gnomADe_AF=0.080298;CSQ_gnomADe_Hom=1096;CSQ_COSMICcMuts=COSV59217000&COSV59217000&COSV59217000;CSQ_COSMICncMuts=COSV59217000&COSV59217000&COSV59217000&COSV59217000;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.049;CSQ_Mastermind_MMID3=NUTM1:T1001N&NUTM1:T973N&NUTM1:T991N;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,12:132:0.09091:65:-100:0.1429:2,5,1,2,1,1,14,46,13,26,9,24:100:100 +15 34649211 . C A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.2972C>A;CSQ_HGVSp=NP_001271222.2:p.Thr991Asn;CSQ_HGVSg=15:g.34649211C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1765;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0570717;CSQ_gnomADe_AC=19766;CSQ_gnomADe_AN=246158;CSQ_gnomADe_AF=0.080298;CSQ_gnomADe_Hom=1096;CSQ_COSMICcMuts=COSV59217000&COSV59217000&COSV59217000;CSQ_COSMICncMuts=COSV59217000&COSV59217000&COSV59217000&COSV59217000;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.049;CSQ_Mastermind_MMID3=NUTM1:T1001N&NUTM1:T973N&NUTM1:T991N;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,12:132:0.09091:65:-100:0.1429:2,5,1,2,1,1,14,46,13,26,9,24:100:100 +15 34649211 . C A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.2918C>A;CSQ_HGVSp=NP_786883.2:p.Thr973Asn;CSQ_HGVSg=15:g.34649211C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1765;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0570717;CSQ_gnomADe_AC=19766;CSQ_gnomADe_AN=246158;CSQ_gnomADe_AF=0.080298;CSQ_gnomADe_Hom=1096;CSQ_COSMICcMuts=COSV59217000&COSV59217000&COSV59217000;CSQ_COSMICncMuts=COSV59217000&COSV59217000&COSV59217000&COSV59217000;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.049;CSQ_Mastermind_MMID3=NUTM1:T1001N&NUTM1:T973N&NUTM1:T991N;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,12:132:0.09091:65:-100:0.1429:2,5,1,2,1,1,14,46,13,26,9,24:100:100 +15 34649247 . C G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.3038C>G;CSQ_HGVSp=NP_001271221.2:p.Pro1013Arg;CSQ_HGVSg=15:g.34649247C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1819;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.0588787;CSQ_gnomADe_AC=20335;CSQ_gnomADe_AN=245938;CSQ_gnomADe_AF=0.0826834;CSQ_gnomADe_Hom=1192;CSQ_COSMICcMuts=COSV59217004&COSV59217004&COSV59217004;CSQ_COSMICncMuts=COSV59217004&COSV59217004&COSV59217004&COSV59217004;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=0.010;CSQ_Mastermind_MMID3=NUTM1:P1003R&NUTM1:P1013R&NUTM1:P985R;CSQ_CADD_PHRED=10.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,8:130:0.06154:65:-100:0.1503:1,3,1,1,0,2,16,37,11,23,8,35:84.374:100 +15 34649247 . C G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.3008C>G;CSQ_HGVSp=NP_001271222.2:p.Pro1003Arg;CSQ_HGVSg=15:g.34649247C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1819;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.0588787;CSQ_gnomADe_AC=20335;CSQ_gnomADe_AN=245938;CSQ_gnomADe_AF=0.0826834;CSQ_gnomADe_Hom=1192;CSQ_COSMICcMuts=COSV59217004&COSV59217004&COSV59217004;CSQ_COSMICncMuts=COSV59217004&COSV59217004&COSV59217004&COSV59217004;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=0.010;CSQ_Mastermind_MMID3=NUTM1:P1003R&NUTM1:P1013R&NUTM1:P985R;CSQ_CADD_PHRED=10.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,8:130:0.06154:65:-100:0.1503:1,3,1,1,0,2,16,37,11,23,8,35:84.374:100 +15 34649247 . C G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=NUTM1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.2954C>G;CSQ_HGVSp=NP_786883.2:p.Pro985Arg;CSQ_HGVSg=15:g.34649247C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1819;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.0588787;CSQ_gnomADe_AC=20335;CSQ_gnomADe_AN=245938;CSQ_gnomADe_AF=0.0826834;CSQ_gnomADe_Hom=1192;CSQ_COSMICcMuts=COSV59217004&COSV59217004&COSV59217004;CSQ_COSMICncMuts=COSV59217004&COSV59217004&COSV59217004&COSV59217004;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=0.010;CSQ_Mastermind_MMID3=NUTM1:P1003R&NUTM1:P1013R&NUTM1:P985R;CSQ_CADD_PHRED=10.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,8:130:0.06154:65:-100:0.1503:1,3,1,1,0,2,16,37,11,23,8,35:84.374:100 +15 34649659 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_001284292.2;CSQ_HGVSc=NM_001284292.2:c.3450G>A;CSQ_HGVSp=NP_001271221.2:p.Thr1150%3D;CSQ_HGVSg=15:g.34649659G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=3.23039e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=244308;CSQ_gnomADe_AF=2.45592e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59218515&COSV59218515&COSV59218515;CSQ_COSMICncMuts=COSV59218515&COSV59218515&COSV59218515&COSV59218515;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.021 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,7:131:0.05344:65:-100:0.1149:1,4,0,1,1,0,19,41,11,27,9,24:72.844:100 +15 34649659 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001284293.2;CSQ_HGVSc=NM_001284293.2:c.3420G>A;CSQ_HGVSp=NP_001271222.2:p.Thr1140%3D;CSQ_HGVSg=15:g.34649659G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=3.23039e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=244308;CSQ_gnomADe_AF=2.45592e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59218515&COSV59218515&COSV59218515;CSQ_COSMICncMuts=COSV59218515&COSV59218515&COSV59218515&COSV59218515;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.021 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,7:131:0.05344:65:-100:0.1149:1,4,0,1,1,0,19,41,11,27,9,24:72.844:100 +15 34649659 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=NUTM1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_175741.3;CSQ_HGVSc=NM_175741.3:c.3366G>A;CSQ_HGVSp=NP_786883.2:p.Thr1122%3D;CSQ_HGVSg=15:g.34649659G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=3.23039e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=244308;CSQ_gnomADe_AF=2.45592e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59218515&COSV59218515&COSV59218515;CSQ_COSMICncMuts=COSV59218515&COSV59218515&COSV59218515&COSV59218515;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.021 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,7:131:0.05344:65:-100:0.1149:1,4,0,1,1,0,19,41,11,27,9,24:72.844:100 +15 41991315 . A T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/23;CSQ_INTRON=.;CSQ_Feature=NM_001080541.3;CSQ_HGVSc=NM_001080541.3:c.2146A>T;CSQ_HGVSp=NP_001074010.2:p.Thr716Ser;CSQ_HGVSg=15:g.41991315A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23398;CSQ_gnomADg_AN=30788;CSQ_gnomADg_AF=0.759971;CSQ_gnomADe_AC=200577;CSQ_gnomADe_AN=243790;CSQ_gnomADe_AF=0.822745;CSQ_gnomADe_Hom=83293;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.072;CSQ_Mastermind_MMID3=MGA:T716S;CSQ_CADD_PHRED=11.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:10,113:123:0.9187:65:-100:0.1745:28,28,13,18,15,11,30,32,14,18,16,13:100:100 +15 41991315 . A T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/24;CSQ_INTRON=.;CSQ_Feature=NM_001164273.2;CSQ_HGVSc=NM_001164273.2:c.2146A>T;CSQ_HGVSp=NP_001157745.1:p.Thr716Ser;CSQ_HGVSg=15:g.41991315A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23398;CSQ_gnomADg_AN=30788;CSQ_gnomADg_AF=0.759971;CSQ_gnomADe_AC=200577;CSQ_gnomADe_AN=243790;CSQ_gnomADe_AF=0.822745;CSQ_gnomADe_Hom=83293;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.072;CSQ_Mastermind_MMID3=MGA:T716S;CSQ_CADD_PHRED=11.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:10,113:123:0.9187:65:-100:0.1745:28,28,13,18,15,11,30,32,14,18,16,13:100:100 +15 42026764 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=MGA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/23;CSQ_INTRON=.;CSQ_Feature=NM_001080541.3;CSQ_HGVSc=NM_001080541.3:c.3888C>T;CSQ_HGVSp=NP_001074010.2:p.Asp1296%3D;CSQ_HGVSg=15:g.42026764C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23145;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.748399;CSQ_gnomADe_AC=189366;CSQ_gnomADe_AN=236860;CSQ_gnomADe_AF=0.799485;CSQ_gnomADe_Hom=76432;CSQ_COSMICcMuts=COSV54961870&COSV54961870&COSV54961870&COSV54961870&COSV54961870;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MGA:D1296D;CSQ_CADD_PHRED=9.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,114:127:0.89764:65:-100:0.2013:17,41,8,19,12,17,19,42,9,23,13,21:100:100 +15 42026764 . C T 100 PASS DP=127;CSQ_Allele=T;CSQ_SYMBOL=MGA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_001164273.2;CSQ_HGVSc=NM_001164273.2:c.3888C>T;CSQ_HGVSp=NP_001157745.1:p.Asp1296%3D;CSQ_HGVSg=15:g.42026764C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23145;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.748399;CSQ_gnomADe_AC=189366;CSQ_gnomADe_AN=236860;CSQ_gnomADe_AF=0.799485;CSQ_gnomADe_Hom=76432;CSQ_COSMICcMuts=COSV54961870&COSV54961870&COSV54961870&COSV54961870&COSV54961870;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MGA:D1296D;CSQ_CADD_PHRED=9.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,114:127:0.89764:65:-100:0.2013:17,41,8,19,12,17,19,42,9,23,13,21:100:100 +15 42028820 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/23;CSQ_INTRON=.;CSQ_Feature=NM_001080541.3;CSQ_HGVSc=NM_001080541.3:c.4358A>G;CSQ_HGVSp=NP_001074010.2:p.Tyr1453Cys;CSQ_HGVSg=15:g.42028820A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=773045;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=240;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00775044;CSQ_gnomADe_AC=2125;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.00863702;CSQ_gnomADe_Hom=25;CSQ_COSMICcMuts=COSV99062573&COSV99062573&COSV99062573&COSV99062573&COSV99062573;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.444;CSQ_Mastermind_MMID3=MGA:Y1453C;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,11:161:0.06832:65:-100:0.1481:4,3,1,2,0,1,29,54,13,26,15,24:100:100 +15 42028820 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/24;CSQ_INTRON=.;CSQ_Feature=NM_001164273.2;CSQ_HGVSc=NM_001164273.2:c.4358A>G;CSQ_HGVSp=NP_001157745.1:p.Tyr1453Cys;CSQ_HGVSg=15:g.42028820A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=773045;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=240;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00775044;CSQ_gnomADe_AC=2125;CSQ_gnomADe_AN=246034;CSQ_gnomADe_AF=0.00863702;CSQ_gnomADe_Hom=25;CSQ_COSMICcMuts=COSV99062573&COSV99062573&COSV99062573&COSV99062573&COSV99062573;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.444;CSQ_Mastermind_MMID3=MGA:Y1453C;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,11:161:0.06832:65:-100:0.1481:4,3,1,2,0,1,29,54,13,26,15,24:100:100 +15 42032383 . C G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/23;CSQ_INTRON=.;CSQ_Feature=NM_001080541.3;CSQ_HGVSc=NM_001080541.3:c.4567C>G;CSQ_HGVSp=NP_001074010.2:p.Pro1523Ala;CSQ_HGVSg=15:g.42032383C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10067;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.325645;CSQ_gnomADe_AC=83716;CSQ_gnomADe_AN=245618;CSQ_gnomADe_AF=0.340838;CSQ_gnomADe_Hom=14705;CSQ_COSMICcMuts=COSV54950082&COSV54950082&COSV54950082&COSV54950082&COSV54950082;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.351;CSQ_Mastermind_MMID3=MGA:P1523A;CSQ_CADD_PHRED=20.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,21:121:0.17355:65:-100:0.1357:4,5,3,4,2,3,23,40,9,24,10,15:100:100 +15 42032383 . C G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/24;CSQ_INTRON=.;CSQ_Feature=NM_001164273.2;CSQ_HGVSc=NM_001164273.2:c.4567C>G;CSQ_HGVSp=NP_001157745.1:p.Pro1523Ala;CSQ_HGVSg=15:g.42032383C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10067;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.325645;CSQ_gnomADe_AC=83716;CSQ_gnomADe_AN=245618;CSQ_gnomADe_AF=0.340838;CSQ_gnomADe_Hom=14705;CSQ_COSMICcMuts=COSV54950082&COSV54950082&COSV54950082&COSV54950082&COSV54950082;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.351;CSQ_Mastermind_MMID3=MGA:P1523A;CSQ_CADD_PHRED=20.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,21:121:0.17355:65:-100:0.1357:4,5,3,4,2,3,23,40,9,24,10,15:100:100 +15 42035073 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=MGA;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_001080541.3;CSQ_HGVSc=NM_001080541.3:c.4585+2672G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.42035073G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54961249&COSV54961249&COSV54961249&COSV54961249&COSV54961249;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,6:129:0.04651:65:-97.8929:0.1342:1,3,0,1,0,1,17,40,12,23,15,22:67.585:100 +15 42035073 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/24;CSQ_INTRON=.;CSQ_Feature=NM_001164273.2;CSQ_HGVSc=NM_001164273.2:c.4915G>A;CSQ_HGVSp=NP_001157745.1:p.Glu1639Lys;CSQ_HGVSg=15:g.42035073G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54961249&COSV54961249&COSV54961249&COSV54961249&COSV54961249;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.192;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,6:129:0.04651:65:-97.8929:0.1342:1,3,0,1,0,1,17,40,12,23,15,22:67.585:100 +15 42041538 . C G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/23;CSQ_INTRON=.;CSQ_Feature=NM_001080541.3;CSQ_HGVSc=NM_001080541.3:c.5106C>G;CSQ_HGVSp=NP_001074010.2:p.Ser1702Arg;CSQ_HGVSg=15:g.42041538C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=3.22831e-05;CSQ_gnomADe_AC=12;CSQ_gnomADe_AN=246024;CSQ_gnomADe_AF=4.87757e-05;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.054;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.28 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,8:125:0.064:65:-100:0.1611:1,3,0,1,1,2,22,52,8,22,4,17:100:100 +15 42041538 . C G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/24;CSQ_INTRON=.;CSQ_Feature=NM_001164273.2;CSQ_HGVSc=NM_001164273.2:c.5733C>G;CSQ_HGVSp=NP_001157745.1:p.Ser1911Arg;CSQ_HGVSg=15:g.42041538C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=3.22831e-05;CSQ_gnomADe_AC=12;CSQ_gnomADe_AN=246024;CSQ_gnomADe_AF=4.87757e-05;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.054;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.28 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,8:125:0.064:65:-100:0.1611:1,3,0,1,1,2,22,52,8,22,4,17:100:100 +15 42041712 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=MGA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/23;CSQ_INTRON=.;CSQ_Feature=NM_001080541.3;CSQ_HGVSc=NM_001080541.3:c.5280G>A;CSQ_HGVSp=NP_001074010.2:p.Lys1760%3D;CSQ_HGVSg=15:g.42041712G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21969;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.710511;CSQ_gnomADe_AC=193958;CSQ_gnomADe_AN=244932;CSQ_gnomADe_AF=0.791885;CSQ_gnomADe_Hom=78169;CSQ_COSMICcMuts=COSV54949153&COSV54949153&COSV54949153&COSV54949153&COSV54949153;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MGA:K1760K&MGA:K1969K;CSQ_CADD_PHRED=8.606 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,105:117:0.89744:65:-100:0.1333:22,43,6,15,4,15,24,48,6,19,4,16:100:100 +15 42041712 . G A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=MGA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/24;CSQ_INTRON=.;CSQ_Feature=NM_001164273.2;CSQ_HGVSc=NM_001164273.2:c.5907G>A;CSQ_HGVSp=NP_001157745.1:p.Lys1969%3D;CSQ_HGVSg=15:g.42041712G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21969;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.710511;CSQ_gnomADe_AC=193958;CSQ_gnomADe_AN=244932;CSQ_gnomADe_AF=0.791885;CSQ_gnomADe_Hom=78169;CSQ_COSMICcMuts=COSV54949153&COSV54949153&COSV54949153&COSV54949153&COSV54949153;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MGA:K1760K&MGA:K1969K;CSQ_CADD_PHRED=8.606 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,105:117:0.89744:65:-100:0.1333:22,43,6,15,4,15,24,48,6,19,4,16:100:100 +15 42041750 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/23;CSQ_INTRON=.;CSQ_Feature=NM_001080541.3;CSQ_HGVSc=NM_001080541.3:c.5318A>G;CSQ_HGVSp=NP_001074010.2:p.Asn1773Ser;CSQ_HGVSg=15:g.42041750A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=770622;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=231;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00745835;CSQ_gnomADe_AC=2347;CSQ_gnomADe_AN=245062;CSQ_gnomADe_AF=0.00957717;CSQ_gnomADe_Hom=20;CSQ_COSMICcMuts=COSV99580672&COSV99580672&COSV99580672&COSV99580672&COSV99580672;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.045;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.901 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-100:0.1333:1,1,1,2,0,1,24,39,4,22,11,17:65.685:100 +15 42041750 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=MGA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/24;CSQ_INTRON=.;CSQ_Feature=NM_001164273.2;CSQ_HGVSc=NM_001164273.2:c.5945A>G;CSQ_HGVSp=NP_001157745.1:p.Asn1982Ser;CSQ_HGVSg=15:g.42041750A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=770622;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=231;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00745835;CSQ_gnomADe_AC=2347;CSQ_gnomADe_AN=245062;CSQ_gnomADe_AF=0.00957717;CSQ_gnomADe_Hom=20;CSQ_COSMICcMuts=COSV99580672&COSV99580672&COSV99580672&COSV99580672&COSV99580672;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.045;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.901 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-100:0.1333:1,1,1,2,0,1,24,39,4,22,11,17:65.685:100 +15 45003808 . C T 100 PASS DP=166;CSQ_Allele=T;CSQ_SYMBOL=B2M;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=1/4;CSQ_INTRON=.;CSQ_Feature=NM_004048.4;CSQ_HGVSc=NM_004048.4:c.64C>T;CSQ_HGVSp=NP_004039.1:p.Gln22Ter;CSQ_HGVSg=15:g.45003808C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62564195&COSV62564195&COSV62564195;CSQ_COSMICncMuts=COSV62564195&COSV62564195&COSV62564195&COSV62564195&COSV62564195&COSV62564195;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=B2M:Q22X;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,9:166:0.05422:65:-100:0.1487:1,3,1,1,2,1,24,61,9,33,15,24:100:100 +15 45007752 . GA G 100 PASS DP=178;CSQ_Allele=-;CSQ_SYMBOL=B2M;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_004048.4;CSQ_HGVSc=NM_004048.4:c.204del;CSQ_HGVSp=NP_004039.1:p.Val69TrpfsTer34;CSQ_HGVSg=15:g.45007757del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62562901&COSV62562901&COSV62562901;CSQ_COSMICncMuts=COSV62562901&COSV62562901;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,7:178:0.03933:65:-94.1207:0:1,4,0,1,0,1,17,64,19,37,15,26:97.084:100 +15 45008529 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=B2M;CSQ_Consequence=stop_gained&splice_region_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/4;CSQ_INTRON=.;CSQ_Feature=NM_004048.4;CSQ_HGVSc=NM_004048.4:c.349C>T;CSQ_HGVSp=NP_004039.1:p.Arg117Ter;CSQ_HGVSg=15:g.45008529C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62562883&COSV62562883&COSV62562883;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=B2M:D116sra&B2M:R117X;CSQ_CADD_PHRED=36 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,10:162:0.06173:65:-100:0.105:4,3,0,1,0,2,35,50,15,32,9,21:100:100 +15 45010012 . G C 100 PASS DP=158;CSQ_Allele=C;CSQ_SYMBOL=B2M;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_004048.4;CSQ_HGVSc=NM_004048.4:c.*222G>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.45010012G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2473;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0799082;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=B2M:3UTR;CSQ_CADD_PHRED=2.016 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,30:158:0.18987:65:-100:0.1271:7,8,3,3,2,7,23,49,14,23,10,39:100:100 +15 49719756 . T A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.286+2976T>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49719756T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=657;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.0212718;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,13:106:0.12264:65:-100:0.1311:1,4,2,2,1,3,17,34,8,16,10,21:100:100 +15 49719953 . A C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.286+3173A>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49719953A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8553;CSQ_gnomADg_AN=30810;CSQ_gnomADg_AF=0.277605;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FAM227B:S304int&FAM227B:S304inta&FAM227B:S338int&FAM227B:S338inta&FGF7:N96int&FGF7:N96intd;CSQ_CADD_PHRED=3.787 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,21:119:0.17647:65:-100:0.1053:5,6,0,3,2,5,13,49,2,22,5,28:100:100 +15 49732414 . T C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.286+15634T>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49732414T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=522;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.0169074;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.591 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,14:112:0.125:65:-100:0.104:3,3,1,4,2,1,9,44,10,29,9,11:100:100 +15 49734713 . T C 100 PASS DP=109;CSQ_Allele=C;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.286+17933T>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49734713T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=665;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.0215475;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.470 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,14:109:0.12844:65:-100:0.128:4,4,2,3,0,1,21,37,8,21,11,11:100:100 +15 49734735 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.286+17955T>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49734735T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=669;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.021687;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.565 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,15:111:0.13514:65:-100:0.126:3,4,4,3,0,1,25,33,11,22,3,17:100:100 +15 49739718 . T C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.286+22938T>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49739718T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=524;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.0169876;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.808 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,15:124:0.12097:65:-100:0.1079:1,7,0,4,1,2,21,39,7,22,8,27:100:100 +15 49744941 . C T 100 PASS DP=90;CSQ_Allele=T;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.286+28161C>T;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49744941C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=775;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.025042;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.220 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:81,9:90:0.1:65:-99.5684:0.0426:2,3,0,2,1,1,11,28,6,19,10,16:100:100 +15 49747753 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.287-27595G>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49747753G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=591;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0190953;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.535 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,12:128:0.09375:65:-100:0.1111:2,4,1,2,1,2,26,40,17,15,11,19:100:100 +15 49752694 . T C 100 PASS DP=103;CSQ_Allele=C;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.287-22654T>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49752694T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20951;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.678158;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51067273&COSV51067273&COSV51067273;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FGF7:N96int&FGF7:N96inta;CSQ_CADD_PHRED=2.517 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,72:103:0.69903:65:-100:0.1694:19,20,6,9,9,9,23,35,8,14,11,12:100:100 +15 49756480 . G T 100 PASS DP=118;CSQ_Allele=T;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.287-18868G>T;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49756480G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3525;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.113893;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,19:118:0.16102:65:-100:0.1324:2,7,2,3,4,1,15,45,13,18,10,17:100:100 +15 49756986 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.287-18362C>T;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49756986C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9697;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.314389;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,47:120:0.39167:65:-100:0.1608:9,14,6,5,4,9,19,32,11,22,16,20:100:100 +15 49757009 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.287-18339C>T;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49757009C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=524;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.016924;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.698 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,7:122:0.05738:65:-99.0309:0.1528:1,3,0,1,0,2,19,36,5,26,17,19:92.229:100 +15 49757040 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=FGF7;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/3;CSQ_Feature=NM_002009.4;CSQ_HGVSc=NM_002009.4:c.287-18308A>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.49757040A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=688;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0222179;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.077 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,10:101:0.09901:65:-100:0.1513:2,3,0,3,1,1,16,27,11,21,12,14:100:100 +15 66727451 . A C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=MAP2K1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_002755.4;CSQ_HGVSc=NM_002755.4:c.167A>C;CSQ_HGVSp=NP_002746.1:p.Gln56Pro;CSQ_HGVSg=15:g.66727451A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=375978;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Melanoma&Non-small_cell_lung_carcinoma&Melorheostosis¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61068787;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.841;CSQ_Mastermind_MMID3=MAP2K1:Q56P;CSQ_CADD_PHRED=23.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1224:1,5,1,0,1,0,26,36,9,22,11,25:96.994:100 +15 66729147 . C T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=MAP2K1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/11;CSQ_INTRON=.;CSQ_Feature=NM_002755.4;CSQ_HGVSc=NM_002755.4:c.355C>T;CSQ_HGVSp=NP_002746.1:p.His119Tyr;CSQ_HGVSg=15:g.66729147C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=40741;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Pathogenic(2)&Uncertain_significance(1);CSQ_ClinVar_CLNDN=MAP2K1-Related_Disorder&MAP2K1-related_rasopathy-like_syndrome&RASopathy¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61072992;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.459;CSQ_Mastermind_MMID3=MAP2K1:H119Y;CSQ_CADD_PHRED=28.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,10:170:0.05882:65:-100:0.1237:1,6,1,2,0,0,17,63,16,34,11,29:100:100 +15 66782085 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=MAP2K1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_002755.4;CSQ_HGVSc=NM_002755.4:c.1052A>G;CSQ_HGVSp=NP_002746.1:p.Asp351Gly;CSQ_HGVSg=15:g.66782085A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57235242&COSV57235242;CSQ_COSMICncMuts=COSV57235242&COSV57235242&COSV57235242&COSV57235242&COSV57235242&COSV57235242&COSV57235242&COSV57235242&COSV57235242&COSV57235242;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.11;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.702;CSQ_Mastermind_MMID3=MAP2K1:D351G;CSQ_CADD_PHRED=28.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,6:121:0.04959:65:-47.84:0.2039:1,2,0,1,0,2,20,37,14,21,8,21:80.267:100 +15 67358558 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=SMAD3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_005902.4;CSQ_HGVSc=NM_005902.4:c.66G>A;CSQ_HGVSp=NP_005893.1:p.Glu22%3D;CSQ_HGVSg=15:g.67358558G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=213757;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Loeys-Dietz_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Ehlers-Danlos_syndrome¬_specified;CSQ_gnomADg_AC=31;CSQ_gnomADg_AN=30846;CSQ_gnomADg_AF=0.00100499;CSQ_gnomADe_AC=325;CSQ_gnomADe_AN=244000;CSQ_gnomADe_AF=0.00133197;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV59280962;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMAD3:E22E;CSQ_CADD_PHRED=14.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,12:122:0.09836:65:-100:0.1644:1,2,3,0,2,4,20,42,15,11,14,20:100:100 +15 67430401 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=SMAD3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001145103.2;CSQ_HGVSc=NM_001145103.2:c.37G>A;CSQ_HGVSp=NP_001138575.1:p.Ala13Thr;CSQ_HGVSg=15:g.67430401G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59287471&COSV59287471&COSV59287471&COSV59287471;CSQ_COSMICncMuts=COSV59287471&COSV59287471;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=0.174;CSQ_Mastermind_MMID3=SMAD3:A13T;CSQ_CADD_PHRED=6.103 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,16:177:0.0904:65:-100:0.1531:5,4,0,0,3,4,37,62,16,19,17,26:100:100 +15 67430401 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=SMAD3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/8;CSQ_Feature=NM_005902.4;CSQ_HGVSc=NM_005902.4:c.207-26832G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.67430401G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59287471&COSV59287471&COSV59287471&COSV59287471;CSQ_COSMICncMuts=COSV59287471&COSV59287471;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.103 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,16:177:0.0904:65:-100:0.1531:5,4,0,0,3,4,37,62,16,19,17,26:100:100 +15 67457335 . A G 100 PASS DP=172;CSQ_Allele=G;CSQ_SYMBOL=SMAD3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_001145103.2;CSQ_HGVSc=NM_001145103.2:c.177A>G;CSQ_HGVSp=NP_001138575.1:p.Leu59%3D;CSQ_HGVSg=15:g.67457335A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=139217;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection¬_specified;CSQ_gnomADg_AC=26722;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.864007;CSQ_gnomADe_AC=213492;CSQ_gnomADe_AN=246214;CSQ_gnomADe_AF=0.867099;CSQ_gnomADe_Hom=92899;CSQ_COSMICcMuts=COSV59284976&COSV59284976&COSV59284976&COSV59284976;CSQ_COSMICncMuts=COSV59284976&COSV59284976&COSV59284976;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMAD3:5UTR&SMAD3:L103L&SMAD3:L59L;CSQ_CADD_PHRED=13.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,145:172:0.84302:65:-100:0.1042:25,55,12,21,7,25,29,63,14,27,9,30:100:100 +15 67457335 . A G 100 PASS DP=172;CSQ_Allele=G;CSQ_SYMBOL=SMAD3;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001145104.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=15:g.67457335A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=139217;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection¬_specified;CSQ_gnomADg_AC=26722;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.864007;CSQ_gnomADe_AC=213492;CSQ_gnomADe_AN=246214;CSQ_gnomADe_AF=0.867099;CSQ_gnomADe_Hom=92899;CSQ_COSMICcMuts=COSV59284976&COSV59284976&COSV59284976&COSV59284976;CSQ_COSMICncMuts=COSV59284976&COSV59284976&COSV59284976;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,145:172:0.84302:65:-100:0.1042:25,55,12,21,7,25,29,63,14,27,9,30:100:100 +15 67457335 . A G 100 PASS DP=172;CSQ_Allele=G;CSQ_SYMBOL=SMAD3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_005902.4;CSQ_HGVSc=NM_005902.4:c.309A>G;CSQ_HGVSp=NP_005893.1:p.Leu103%3D;CSQ_HGVSg=15:g.67457335A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=139217;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection¬_specified;CSQ_gnomADg_AC=26722;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.864007;CSQ_gnomADe_AC=213492;CSQ_gnomADe_AN=246214;CSQ_gnomADe_AF=0.867099;CSQ_gnomADe_Hom=92899;CSQ_COSMICcMuts=COSV59284976&COSV59284976&COSV59284976&COSV59284976;CSQ_COSMICncMuts=COSV59284976&COSV59284976&COSV59284976;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMAD3:5UTR&SMAD3:L103L&SMAD3:L59L;CSQ_CADD_PHRED=13.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:27,145:172:0.84302:65:-100:0.1042:25,55,12,21,7,25,29,63,14,27,9,30:100:100 +15 67457698 . A G 100 PASS DP=178;CSQ_Allele=G;CSQ_SYMBOL=SMAD3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_001145103.2;CSQ_HGVSc=NM_001145103.2:c.376A>G;CSQ_HGVSp=NP_001138575.1:p.Ile126Val;CSQ_HGVSg=15:g.67457698A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=139212;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Loeys-Dietz_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Ehlers-Danlos_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=943;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0304941;CSQ_gnomADe_AC=9796;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.0397878;CSQ_gnomADe_Hom=277;CSQ_COSMICcMuts=COSV59281888&COSV59281888&COSV59281888;CSQ_COSMICncMuts=COSV59281888&COSV59281888&COSV59281888&COSV59281888&COSV59281888;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=0.302;CSQ_Mastermind_MMID3=SMAD3:I126V&SMAD3:I170V&SMAD3:I65V;CSQ_CADD_PHRED=18.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,10:178:0.05618:65:-100:0.1604:2,5,0,1,1,1,35,63,16,26,12,26:70.155:100 +15 67457698 . A G 100 PASS DP=178;CSQ_Allele=G;CSQ_SYMBOL=SMAD3;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001145104.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=15:g.67457698A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=139212;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Loeys-Dietz_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Ehlers-Danlos_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=943;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0304941;CSQ_gnomADe_AC=9796;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.0397878;CSQ_gnomADe_Hom=277;CSQ_COSMICcMuts=COSV59281888&COSV59281888&COSV59281888;CSQ_COSMICncMuts=COSV59281888&COSV59281888&COSV59281888&COSV59281888&COSV59281888;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,10:178:0.05618:65:-100:0.1604:2,5,0,1,1,1,35,63,16,26,12,26:70.155:100 +15 67457698 . A G 100 PASS DP=178;CSQ_Allele=G;CSQ_SYMBOL=SMAD3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_005902.4;CSQ_HGVSc=NM_005902.4:c.508A>G;CSQ_HGVSp=NP_005893.1:p.Ile170Val;CSQ_HGVSg=15:g.67457698A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=139212;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Loeys-Dietz_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection&Ehlers-Danlos_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=943;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0304941;CSQ_gnomADe_AC=9796;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.0397878;CSQ_gnomADe_Hom=277;CSQ_COSMICcMuts=COSV59281888&COSV59281888&COSV59281888;CSQ_COSMICncMuts=COSV59281888&COSV59281888&COSV59281888&COSV59281888&COSV59281888;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=0.302;CSQ_Mastermind_MMID3=SMAD3:I126V&SMAD3:I170V&SMAD3:I65V;CSQ_CADD_PHRED=18.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,10:178:0.05618:65:-100:0.1604:2,5,0,1,1,1,35,63,16,26,12,26:70.155:100 +15 67479752 . C A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=SMAD3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/9;CSQ_INTRON=.;CSQ_Feature=NM_001145103.2;CSQ_HGVSc=NM_001145103.2:c.927C>A;CSQ_HGVSp=NP_001138575.1:p.Ala309%3D;CSQ_HGVSg=15:g.67479752C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=700083;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Likely_benign(3);CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=3.23227e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=246266;CSQ_gnomADe_AF=1.62426e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,8:166:0.04819:65:-100:0.1354:2,3,1,1,0,1,28,62,10,30,8,28:88.921:100 +15 67479752 . C A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=SMAD3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/7;CSQ_INTRON=.;CSQ_Feature=NM_001145104.2;CSQ_HGVSc=NM_001145104.2:c.474C>A;CSQ_HGVSp=NP_001138576.1:p.Ala158%3D;CSQ_HGVSg=15:g.67479752C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=700083;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Likely_benign(3);CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=3.23227e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=246266;CSQ_gnomADe_AF=1.62426e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMAD3:A158A;CSQ_CADD_PHRED=10.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,8:166:0.04819:65:-100:0.1354:2,3,1,1,0,1,28,62,10,30,8,28:88.921:100 +15 67479752 . C A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=SMAD3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/9;CSQ_INTRON=.;CSQ_Feature=NM_005902.4;CSQ_HGVSc=NM_005902.4:c.1059C>A;CSQ_HGVSp=NP_005893.1:p.Ala353%3D;CSQ_HGVSg=15:g.67479752C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=700083;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Likely_benign(3);CSQ_ClinVar_CLNDN=Aneurysm-osteoarthritis_syndrome&Familial_thoracic_aortic_aneurysm_and_aortic_dissection;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=3.23227e-05;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=246266;CSQ_gnomADe_AF=1.62426e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:158,8:166:0.04819:65:-100:0.1354:2,3,1,1,0,1,28,62,10,30,8,28:88.921:100 +15 73994743 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=CD276;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.227T>C;CSQ_HGVSp=NP_001019907.1:p.Val76Ala;CSQ_HGVSg=15:g.73994743T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59205301&COSV59205301&COSV59205301&COSV59205301&COSV59205301;CSQ_COSMICncMuts=COSV59205301&COSV59205301&COSV59205301&COSV59205301;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.275;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,13:152:0.08553:65:-100:0.1648:0,4,3,4,1,1,19,53,15,28,12,25:100:100 +15 73994795 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=CD276;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.279G>A;CSQ_HGVSp=NP_001019907.1:p.Thr93%3D;CSQ_HGVSg=15:g.73994795G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.000129291;CSQ_gnomADe_AC=8;CSQ_gnomADe_AN=245800;CSQ_gnomADe_AF=3.25468e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.516 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,13:150:0.08667:65:-100:0.1477:2,4,0,4,1,2,20,52,12,33,9,24:100:100 +15 73994806 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=CD276;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.290C>T;CSQ_HGVSp=NP_001019907.1:p.Pro97Leu;CSQ_HGVSg=15:g.73994806C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5776;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.186974;CSQ_gnomADe_AC=31317;CSQ_gnomADe_AN=245482;CSQ_gnomADe_AF=0.127574;CSQ_gnomADe_Hom=2731;CSQ_COSMICcMuts=COSV59203232&COSV59203232&COSV59203232&COSV59203232&COSV59203232;CSQ_COSMICncMuts=COSV59203232&COSV59203232&COSV59203232&COSV59203232;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.089;CSQ_Mastermind_MMID3=CD276:5UTR&CD276:P97L;CSQ_CADD_PHRED=10.10 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,34:150:0.22667:65:-100:0.1379:6,11,2,6,1,8,26,49,13,28,7,27:100:100 +15 73994847 . C A 100 PASS DP=144;CSQ_Allele=A;CSQ_SYMBOL=CD276;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.331C>A;CSQ_HGVSp=NP_001019907.1:p.Arg111Ser;CSQ_HGVSg=15:g.73994847C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5782;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.18718;CSQ_gnomADe_AC=31178;CSQ_gnomADe_AN=243770;CSQ_gnomADe_AF=0.127899;CSQ_gnomADe_Hom=2721;CSQ_COSMICcMuts=COSV59202688&COSV59202688&COSV59202688&COSV59202688&COSV59202688;CSQ_COSMICncMuts=COSV59202688&COSV59202688&COSV59202688&COSV59202688&COSV59202688;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.044;CSQ_Mastermind_MMID3=CD276:5UTR&CD276:R111S;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,33:144:0.22917:65:-100:0.1579:5,11,2,6,2,7,24,50,9,27,11,23:100:100 +15 73995165 . A C 100 PASS DP=97;CSQ_Allele=C;CSQ_SYMBOL=CD276;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.471A>C;CSQ_HGVSp=NP_001019907.1:p.Pro157%3D;CSQ_HGVSg=15:g.73995165A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5718;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.1853;CSQ_gnomADe_AC=31178;CSQ_gnomADe_AN=244914;CSQ_gnomADe_AF=0.127302;CSQ_gnomADe_Hom=2633;CSQ_COSMICcMuts=COSV59202431&COSV59202431&COSV59202431&COSV59202431&COSV59202431;CSQ_COSMICncMuts=COSV59202431&COSV59202431&COSV59202431&COSV59202431&COSV59202431&COSV59202431&COSV59202431&COSV59202431&COSV59202431;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD276:A140int&CD276:A140intd&CD276:P11P&CD276:P157P;CSQ_CADD_PHRED=5.309 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,20:97:0.20619:65:-100:0.0849:1,7,0,8,1,3,10,44,3,23,2,15:100:100 +15 73995173 . C T 100 PASS DP=94;CSQ_Allele=T;CSQ_SYMBOL=CD276;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.479C>T;CSQ_HGVSp=NP_001019907.1:p.Thr160Met;CSQ_HGVSg=15:g.73995173C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5908;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.191445;CSQ_gnomADe_AC=33327;CSQ_gnomADe_AN=245154;CSQ_gnomADe_AF=0.135943;CSQ_gnomADe_Hom=2916;CSQ_COSMICcMuts=COSV59202473&COSV59202473&COSV59202473&COSV59202473&COSV59202473;CSQ_COSMICncMuts=COSV59202473&COSV59202473&COSV59202473&COSV59202473&COSV59202473&COSV59202473&COSV59202473&COSV59202473&COSV59202473;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.170;CSQ_Mastermind_MMID3=CD276:A140int&CD276:A140intd&CD276:T14M&CD276:T160M;CSQ_CADD_PHRED=7.804 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,26:94:0.2766:65:-100:0.1215:1,7,0,14,1,3,12,35,3,26,3,15:100:100 +15 73996066 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=CD276;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.800G>A;CSQ_HGVSp=NP_001019907.1:p.Arg267His;CSQ_HGVSg=15:g.73996066G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3618;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.117407;CSQ_gnomADe_AC=26638;CSQ_gnomADe_AN=245228;CSQ_gnomADe_AF=0.108625;CSQ_gnomADe_Hom=1531;CSQ_COSMICcMuts=COSV59203819&COSV59203819&COSV59203819&COSV59203819&COSV59203819;CSQ_COSMICncMuts=COSV59203819&COSV59203819&COSV59203819&COSV59203819&COSV59203819&COSV59203819&COSV59203819&COSV59203819&COSV59203819&COSV59203819&COSV59203819;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=0.020;CSQ_Mastermind_MMID3=CD276:A140int&CD276:A140inta&CD276:R121H&CD276:R267H;CSQ_CADD_PHRED=20.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,9:131:0.0687:65:-99.9461:0.2249:2,2,0,4,1,0,20,45,11,27,8,20:86.369:100 +15 73996101 . G A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=CD276;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.835G>A;CSQ_HGVSp=NP_001019907.1:p.Ala279Thr;CSQ_HGVSg=15:g.73996101G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5752;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.186426;CSQ_gnomADe_AC=31103;CSQ_gnomADe_AN=245830;CSQ_gnomADe_AF=0.126522;CSQ_gnomADe_Hom=2716;CSQ_COSMICcMuts=COSV59205719&COSV59205719&COSV59205719&COSV59205719&COSV59205719;CSQ_COSMICncMuts=COSV59205719&COSV59205719&COSV59205719&COSV59205719&COSV59205719&COSV59205719&COSV59205719&COSV59205719&COSV59205719&COSV59205719&COSV59205719;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.50;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=CD276:A133T&CD276:A140int&CD276:A140inta&CD276:A279T;CSQ_CADD_PHRED=22.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,26:147:0.17687:65:-100:0.1878:5,7,5,6,0,3,19,51,18,24,7,28:100:100 +15 73996590 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=CD276;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.1146G>A;CSQ_HGVSp=NP_001019907.1:p.Thr382%3D;CSQ_HGVSg=15:g.73996590G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=864;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.027916;CSQ_gnomADe_AC=6874;CSQ_gnomADe_AN=245894;CSQ_gnomADe_AF=0.0279551;CSQ_gnomADe_Hom=149;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD276:T164T&CD276:T236T&CD276:T382T;CSQ_CADD_PHRED=11.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,16:145:0.11034:65:-100:0.1369:4,5,0,2,2,3,25,44,9,29,13,25:100:100 +15 73996795 . G A 100 PASS DP=111;CSQ_Allele=A;CSQ_SYMBOL=CD276;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.1351G>A;CSQ_HGVSp=NP_001019907.1:p.Gly451Ser;CSQ_HGVSg=15:g.73996795G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=3.23081e-05;CSQ_gnomADe_AC=9;CSQ_gnomADe_AN=243364;CSQ_gnomADe_AF=3.69816e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59205313&COSV59205313&COSV59205313&COSV59205313&COSV59205313;CSQ_COSMICncMuts=COSV59205313&COSV59205313&COSV59205313&COSV59205313&COSV59205313&COSV59205313&COSV59205313&COSV59205313;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=0.167;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,6:111:0.05405:65:-49.318:0.1462:0,2,1,1,1,1,20,37,8,16,12,18:67.646:100 +15 74000729 . G C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=CD276;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.1419G>C;CSQ_HGVSp=NP_001019907.1:p.Leu473%3D;CSQ_HGVSg=15:g.74000729G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5784;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.186991;CSQ_gnomADe_AC=31285;CSQ_gnomADe_AN=246040;CSQ_gnomADe_AF=0.127154;CSQ_gnomADe_Hom=2733;CSQ_COSMICcMuts=COSV59203836&COSV59203836&COSV59203836&COSV59203836&COSV59203836;CSQ_COSMICncMuts=COSV59203836&COSV59203836;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD276:L255L&CD276:L327L&CD276:L473L;CSQ_CADD_PHRED=0.476 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,30:151:0.19868:65:-100:0.1657:4,9,5,8,1,3,21,51,16,27,14,22:100:100 +15 74001993 . T C 100 PASS DP=101;CSQ_Allele=C;CSQ_SYMBOL=CD276;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.1509T>C;CSQ_HGVSp=NP_001019907.1:p.Ala503%3D;CSQ_HGVSg=15:g.74001993T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5807;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.187819;CSQ_gnomADe_AC=31006;CSQ_gnomADe_AN=244480;CSQ_gnomADe_AF=0.126824;CSQ_gnomADe_Hom=2742;CSQ_COSMICcMuts=COSV59203850&COSV59203850&COSV59203850&COSV59203850&COSV59203850;CSQ_COSMICncMuts=COSV59203850&COSV59203850;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD276:A285A&CD276:A357A&CD276:A503A;CSQ_CADD_PHRED=7.974 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,17:101:0.16832:65:-100:0.2519:1,6,2,4,0,4,15,25,12,22,8,19:100:100 +15 74002006 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=CD276;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.1522G>A;CSQ_HGVSp=NP_001019907.1:p.Gly508Arg;CSQ_HGVSg=15:g.74002006G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1587;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0512763;CSQ_gnomADe_AC=13826;CSQ_gnomADe_AN=244774;CSQ_gnomADe_AF=0.0564848;CSQ_gnomADe_Hom=462;CSQ_COSMICcMuts=COSV59203861&COSV59203861&COSV59203861&COSV59203861&COSV59203861;CSQ_COSMICncMuts=COSV59203861&COSV59203861;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.10;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=0.067;CSQ_Mastermind_MMID3=CD276:G290R&CD276:G362R&CD276:G508R;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,14:113:0.12389:65:-100:0.2467:2,7,0,2,1,2,18,30,14,20,10,21:100:100 +15 74003533 . G A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=CD276;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/9;CSQ_Feature=NM_001024736.2;CSQ_HGVSc=NM_001024736.2:c.1582+22G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.74003533G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5792;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.187358;CSQ_gnomADe_AC=31397;CSQ_gnomADe_AN=245736;CSQ_gnomADe_AF=0.127767;CSQ_gnomADe_Hom=2756;CSQ_COSMICcMuts=COSV59203868&COSV59203868&COSV59203868&COSV59203868&COSV59203868;CSQ_COSMICncMuts=COSV59203868;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD276:D310int&CD276:D310intd&CD276:D382int&CD276:D382intd&CD276:D528int&CD276:D528intd;CSQ_CADD_PHRED=0.505 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,24:115:0.2087:65:-100:0.1481:3,12,1,3,3,2,16,47,13,15,8,16:100:100 +15 88420176 . A G 100 PASS DP=123;CSQ_Allele=G;CSQ_SYMBOL=NTRK3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.2510T>C;CSQ_HGVSp=NP_001012338.1:p.Ile837Thr;CSQ_HGVSg=15:g.88420176A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62294782&COSV62294782&COSV62294782&COSV62294782&COSV62294782;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.605;CSQ_Mastermind_MMID3=NTRK3:I837T;CSQ_CADD_PHRED=23.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,8:123:0.06504:65:-100:0.2065:0,4,2,0,1,1,22,45,11,18,7,20:100:100 +15 88520804 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=NTRK3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.*1772G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88520804C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,17:126:0.13492:65:-100:0.1486:3,6,0,3,3,2,23,41,7,23,12,20:100:100 +15 88520804 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=NTRK3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/19;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.1586-36820G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88520804C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,17:126:0.13492:65:-100:0.1486:3,6,0,3,3,2,23,41,7,23,12,20:100:100 +15 88521154 . C T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=NTRK3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.*1422G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521154C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.129 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,10:124:0.08065:65:-100:0.1565:1,2,4,0,1,2,13,48,14,18,7,24:100:100 +15 88521154 . C T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=NTRK3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/19;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.1586-37170G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521154C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.129 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,10:124:0.08065:65:-100:0.1565:1,2,4,0,1,2,13,48,14,18,7,24:100:100 +15 88521206 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.*1370A>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521206T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00209975;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.721 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,7:127:0.05512:65:-97.4473:0.1361:3,3,0,0,1,0,20,41,10,22,12,22:60.291:100 +15 88521206 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/19;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.1586-37222A>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521206T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=65;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00209975;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.721 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,7:127:0.05512:65:-97.4473:0.1361:3,3,0,0,1,0,20,41,10,22,12,22:60.291:100 +15 88521280 . C G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=NTRK3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.*1296G>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521280C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18998;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.61542;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58124966&COSV58124966&COSV58124966&COSV58124966&COSV58124966&COSV58124966&COSV58124966&COSV58124966;CSQ_COSMICncMuts=COSV58124966&COSV58124966&COSV58124966;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,75:121:0.61983:65:-100:0.1232:10,29,3,16,5,12,17,41,5,25,9,24:100:100 +15 88521280 . C G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=NTRK3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/19;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.1586-37296G>C;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521280C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18998;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.61542;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58124966&COSV58124966&COSV58124966&COSV58124966&COSV58124966&COSV58124966&COSV58124966&COSV58124966;CSQ_COSMICncMuts=COSV58124966&COSV58124966&COSV58124966;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK3:3UTR&NTRK3:Y431int&NTRK3:Y431inta&NTRK3:Y521int&NTRK3:Y521inta&NTRK3:Y529int&NTRK3:Y529inta;CSQ_CADD_PHRED=2.406 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,75:121:0.61983:65:-100:0.1232:10,29,3,16,5,12,17,41,5,25,9,24:100:100 +15 88521388 . A C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.*1188T>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521388A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1403;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0453283;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.029 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,23:135:0.17037:65:-100:0.106:3,10,1,4,0,5,24,54,10,26,8,13:100:100 +15 88521388 . A C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/19;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.1586-37404T>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521388A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1403;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0453283;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.029 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,23:135:0.17037:65:-100:0.106:3,10,1,4,0,5,24,54,10,26,8,13:100:100 +15 88521451 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=NTRK3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.*1125G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521451C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1393;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0449848;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,23:126:0.18254:65:-100:0.1064:4,9,1,4,0,5,26,42,6,24,5,23:100:100 +15 88521451 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=NTRK3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/19;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.1586-37467G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88521451C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1393;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0449848;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,23:126:0.18254:65:-100:0.1064:4,9,1,4,0,5,26,42,6,24,5,23:100:100 +15 88576185 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.1488C>G;CSQ_HGVSp=NP_001007157.1:p.Ala496%3D;CSQ_HGVSg=15:g.88576185G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1251369;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10891;CSQ_gnomADg_AN=30266;CSQ_gnomADg_AF=0.359843;CSQ_gnomADe_AC=84936;CSQ_gnomADe_AN=244214;CSQ_gnomADe_AF=0.347793;CSQ_gnomADe_Hom=15179;CSQ_COSMICcMuts=COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833;CSQ_COSMICncMuts=COSV58110833;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK3:A398A&NTRK3:A488A&NTRK3:A496A;CSQ_CADD_PHRED=0.193 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,33:129:0.25581:65:-100:0.1284:2,16,3,3,1,8,18,54,6,20,10,21:100:100 +15 88576185 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/20;CSQ_INTRON=.;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.1488C>G;CSQ_HGVSp=NP_001012338.1:p.Ala496%3D;CSQ_HGVSg=15:g.88576185G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1251369;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=10891;CSQ_gnomADg_AN=30266;CSQ_gnomADg_AF=0.359843;CSQ_gnomADe_AC=84936;CSQ_gnomADe_AN=244214;CSQ_gnomADe_AF=0.347793;CSQ_gnomADe_Hom=15179;CSQ_COSMICcMuts=COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833&COSV58110833;CSQ_COSMICncMuts=COSV58110833;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK3:A398A&NTRK3:A488A&NTRK3:A496A;CSQ_CADD_PHRED=0.193 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,33:129:0.25581:65:-100:0.1284:2,16,3,3,1,8,18,54,6,20,10,21:100:100 +15 88576232 . G C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.1441C>G;CSQ_HGVSp=NP_001007157.1:p.Leu481Val;CSQ_HGVSg=15:g.88576232G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445;CSQ_COSMICncMuts=COSV58111445;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=0.390;CSQ_Mastermind_MMID3=NTRK3:L383V&NTRK3:L481V;CSQ_CADD_PHRED=24.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,10:116:0.08621:65:-100:0.1714:2,2,0,1,1,4,22,38,3,21,14,18:100:100 +15 88576232 . G C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/20;CSQ_INTRON=.;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.1441C>G;CSQ_HGVSp=NP_001012338.1:p.Leu481Val;CSQ_HGVSg=15:g.88576232G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445&COSV58111445;CSQ_COSMICncMuts=COSV58111445;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=0.390;CSQ_Mastermind_MMID3=NTRK3:L383V&NTRK3:L481V;CSQ_CADD_PHRED=24.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,10:116:0.08621:65:-100:0.1714:2,2,0,1,1,4,22,38,3,21,14,18:100:100 +15 88679785 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=NTRK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.678C>T;CSQ_HGVSp=NP_001007157.1:p.Asn226%3D;CSQ_HGVSg=15:g.88679785G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30880;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.997094;CSQ_gnomADe_AC=245289;CSQ_gnomADe_AN=246102;CSQ_gnomADe_AF=0.996696;CSQ_gnomADe_Hom=122243;CSQ_COSMICcMuts=COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005;CSQ_COSMICncMuts=COSV58135005&COSV58135005&COSV58135005;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK3:N128N&NTRK3:N226N;CSQ_CADD_PHRED=7.063 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,124:124:1:65:-100:0.1678:22,40,10,20,13,19,22,40,10,20,13,19:100:100 +15 88679785 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=NTRK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/20;CSQ_INTRON=.;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.678C>T;CSQ_HGVSp=NP_001012338.1:p.Asn226%3D;CSQ_HGVSg=15:g.88679785G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30880;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.997094;CSQ_gnomADe_AC=245289;CSQ_gnomADe_AN=246102;CSQ_gnomADe_AF=0.996696;CSQ_gnomADe_Hom=122243;CSQ_COSMICcMuts=COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005&COSV58135005;CSQ_COSMICncMuts=COSV58135005&COSV58135005&COSV58135005;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK3:N128N&NTRK3:N226N;CSQ_CADD_PHRED=7.063 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,124:124:1:65:-100:0.1678:22,40,10,20,13,19,22,40,10,20,13,19:100:100 +15 88680684 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=NTRK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.573C>T;CSQ_HGVSp=NP_001007157.1:p.Asn191%3D;CSQ_HGVSg=15:g.88680684G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1227513;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9053;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.292845;CSQ_gnomADe_AC=63044;CSQ_gnomADe_AN=245928;CSQ_gnomADe_AF=0.256351;CSQ_gnomADe_Hom=8623;CSQ_COSMICcMuts=COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651;CSQ_COSMICncMuts=COSV58119651&COSV58119651&COSV58119651;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK3:N191N&NTRK3:N93N;CSQ_CADD_PHRED=5.413 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,36:140:0.25714:65:-100:0.1304:6,12,2,7,3,6,24,45,7,29,8,27:100:100 +15 88680684 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=NTRK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/20;CSQ_INTRON=.;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.573C>T;CSQ_HGVSp=NP_001012338.1:p.Asn191%3D;CSQ_HGVSg=15:g.88680684G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1227513;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9053;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.292845;CSQ_gnomADe_AC=63044;CSQ_gnomADe_AN=245928;CSQ_gnomADe_AF=0.256351;CSQ_gnomADe_Hom=8623;CSQ_COSMICcMuts=COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651&COSV58119651;CSQ_COSMICncMuts=COSV58119651&COSV58119651&COSV58119651;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NTRK3:N191N&NTRK3:N93N;CSQ_CADD_PHRED=5.413 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,36:140:0.25714:65:-100:0.1304:6,12,2,7,3,6,24,45,7,29,8,27:100:100 +15 88799687 . T C 100 PASS DP=71;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/16;CSQ_INTRON=.;CSQ_Feature=NM_001007156.3;CSQ_HGVSc=NM_001007156.3:c.-188A>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88799687T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,8:71:0.11268:65:-51.7778:0.1235:2,2,1,2,0,1,20,12,8,10,11,10:100:100 +15 88799687 . T C 100 PASS DP=71;CSQ_Allele=C;CSQ_SYMBOL=NTRK3;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/20;CSQ_INTRON=.;CSQ_Feature=NM_001012338.3;CSQ_HGVSc=NM_001012338.3:c.-188A>G;CSQ_HGVSp=.;CSQ_HGVSg=15:g.88799687T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,8:71:0.11268:65:-51.7778:0.1235:2,2,1,2,0,1,20,12,8,10,11,10:100:100 +15 89804043 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.257C>T;CSQ_HGVSp=NP_001106849.1:p.Ala86Val;CSQ_HGVSg=15:g.89804043C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257484;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=9840;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.318364;CSQ_gnomADe_AC=89178;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.362194;CSQ_gnomADe_Hom=17185;CSQ_COSMICcMuts=COSV55527083&COSV55527083&COSV55527083&COSV55527083;CSQ_COSMICncMuts=COSV55527083&COSV55527083&COSV55527083&COSV55527083&COSV55527083;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.21;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.152;CSQ_Mastermind_MMID3=FANCI:5UTR&FANCI:A86V;CSQ_CADD_PHRED=23.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,64:157:0.40764:65:-100:0.1604:12,22,8,9,5,8,32,55,13,19,15,23:100:100 +15 89804043 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/37;CSQ_INTRON=.;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.257C>T;CSQ_HGVSp=NP_060663.2:p.Ala86Val;CSQ_HGVSg=15:g.89804043C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257484;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=9840;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.318364;CSQ_gnomADe_AC=89178;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.362194;CSQ_gnomADe_Hom=17185;CSQ_COSMICcMuts=COSV55527083&COSV55527083&COSV55527083&COSV55527083;CSQ_COSMICncMuts=COSV55527083&COSV55527083&COSV55527083&COSV55527083&COSV55527083;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.21;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.152;CSQ_Mastermind_MMID3=FANCI:5UTR&FANCI:A86V;CSQ_CADD_PHRED=23.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,64:157:0.40764:65:-100:0.1604:12,22,8,9,5,8,32,55,13,19,15,23:100:100 +15 89807779 . A C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=FANCI;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.696A>C;CSQ_HGVSp=NP_001106849.1:p.Gly232%3D;CSQ_HGVSg=15:g.89807779A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,9:120:0.075:65:-100:0.1367:2,5,1,0,1,0,20,51,6,16,6,21:100:100 +15 89807779 . A C 100 PASS DP=120;CSQ_Allele=C;CSQ_SYMBOL=FANCI;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/37;CSQ_INTRON=.;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.696A>C;CSQ_HGVSp=NP_060663.2:p.Gly232%3D;CSQ_HGVSg=15:g.89807779A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,9:120:0.075:65:-100:0.1367:2,5,1,0,1,0,20,51,6,16,6,21:100:100 +15 89825056 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.1573A>G;CSQ_HGVSp=NP_001106849.1:p.Met525Val;CSQ_HGVSg=15:g.89825056A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=238309;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(2)&Benign(2)&Likely_benign(3);CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=66;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0021322;CSQ_gnomADe_AC=562;CSQ_gnomADe_AN=246032;CSQ_gnomADe_AF=0.00228426;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV99037501&COSV99037501;CSQ_COSMICncMuts=COSV99037501;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.487;CSQ_Mastermind_MMID3=FANCI:M432V&FANCI:M525V;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,10:146:0.06849:65:-100:0.1361:3,2,0,3,1,1,27,40,11,27,13,28:100:100 +15 89825056 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/37;CSQ_INTRON=.;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.1573A>G;CSQ_HGVSp=NP_060663.2:p.Met525Val;CSQ_HGVSg=15:g.89825056A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=238309;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(2)&Benign(2)&Likely_benign(3);CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=66;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0021322;CSQ_gnomADe_AC=562;CSQ_gnomADe_AN=246032;CSQ_gnomADe_AF=0.00228426;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV99037501&COSV99037501;CSQ_COSMICncMuts=COSV99037501;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.487;CSQ_Mastermind_MMID3=FANCI:M432V&FANCI:M525V;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,10:146:0.06849:65:-100:0.1361:3,2,0,3,1,1,27,40,11,27,13,28:100:100 +15 89836228 . G C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.2225G>C;CSQ_HGVSp=NP_001106849.1:p.Cys742Ser;CSQ_HGVSg=15:g.89836228G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257482;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=9922;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.320872;CSQ_gnomADe_AC=90156;CSQ_gnomADe_AN=245952;CSQ_gnomADe_AF=0.366559;CSQ_gnomADe_Hom=17578;CSQ_COSMICcMuts=COSV55522176&COSV55522176;CSQ_COSMICncMuts=COSV55522176;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.075;CSQ_Mastermind_MMID3=FANCI:C649S&FANCI:C742S;CSQ_CADD_PHRED=21.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,56:127:0.44094:65:-100:0.1181:7,20,5,11,7,6,19,47,10,20,12,19:100:100 +15 89836228 . G C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/37;CSQ_INTRON=.;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.2225G>C;CSQ_HGVSp=NP_060663.2:p.Cys742Ser;CSQ_HGVSg=15:g.89836228G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257482;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=9922;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.320872;CSQ_gnomADe_AC=90156;CSQ_gnomADe_AN=245952;CSQ_gnomADe_AF=0.366559;CSQ_gnomADe_Hom=17578;CSQ_COSMICcMuts=COSV55522176&COSV55522176;CSQ_COSMICncMuts=COSV55522176;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.075;CSQ_Mastermind_MMID3=FANCI:C649S&FANCI:C742S;CSQ_CADD_PHRED=21.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,56:127:0.44094:65:-100:0.1181:7,20,5,11,7,6,19,47,10,20,12,19:100:100 +15 89837191 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.2419A>G;CSQ_HGVSp=NP_001106849.1:p.Met807Val;CSQ_HGVSg=15:g.89837191A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1385330;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=9.68242e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246224;CSQ_gnomADe_AF=4.06134e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55523886&COSV55523886;CSQ_COSMICncMuts=COSV55523886;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=0.217;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,10:116:0.08621:65:-100:0.1008:1,4,2,1,0,2,20,38,13,17,10,18:100:100 +15 89837191 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/37;CSQ_INTRON=.;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.2419A>G;CSQ_HGVSp=NP_060663.2:p.Met807Val;CSQ_HGVSg=15:g.89837191A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1385330;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30984;CSQ_gnomADg_AF=9.68242e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246224;CSQ_gnomADe_AF=4.06134e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55523886&COSV55523886;CSQ_COSMICncMuts=COSV55523886;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=0.217;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,10:116:0.08621:65:-100:0.1008:1,4,2,1,0,2,20,38,13,17,10,18:100:100 +15 89838236 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=FANCI;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.2547G>A;CSQ_HGVSp=NP_001106849.1:p.Lys849%3D;CSQ_HGVSg=15:g.89838236G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=439694;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia¬_specified;CSQ_gnomADg_AC=29531;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.953844;CSQ_gnomADe_AC=146545;CSQ_gnomADe_AN=153180;CSQ_gnomADe_AF=0.956685;CSQ_gnomADe_Hom=70190;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.241 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,153:153:1:65:-100:0.1404:20,50,9,32,15,27,20,50,9,32,15,27:100:100 +15 89838236 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=FANCI;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=23/36;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.2456+1008G>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.89838236G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=439694;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia¬_specified;CSQ_gnomADg_AC=29531;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.953844;CSQ_gnomADe_AC=146545;CSQ_gnomADe_AN=153180;CSQ_gnomADe_AF=0.956685;CSQ_gnomADe_Hom=70190;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.241 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,153:153:1:65:-100:0.1404:20,50,9,32,15,27,20,50,9,32,15,27:100:100 +15 89838318 . A T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.2629A>T;CSQ_HGVSp=NP_001106849.1:p.Ile877Leu;CSQ_HGVSg=15:g.89838318A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257485;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2460;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.079483;CSQ_gnomADe_AC=13387;CSQ_gnomADe_AN=151150;CSQ_gnomADe_AF=0.0885676;CSQ_gnomADe_Hom=668;CSQ_COSMICcMuts=COSV55522195&COSV55522195;CSQ_COSMICncMuts=COSV55522195;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.132;CSQ_Mastermind_MMID3=FANCI:I784L&FANCI:I877L&FANCI:R819int&FANCI:R819intd;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,11:133:0.08271:65:-48.2791:0.089:1,6,0,2,0,2,18,48,11,22,10,24:100:100 +15 89838318 . A T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=FANCI;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=23/36;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.2456+1090A>T;CSQ_HGVSp=.;CSQ_HGVSg=15:g.89838318A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257485;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2460;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.079483;CSQ_gnomADe_AC=13387;CSQ_gnomADe_AN=151150;CSQ_gnomADe_AF=0.0885676;CSQ_gnomADe_Hom=668;CSQ_COSMICcMuts=COSV55522195&COSV55522195;CSQ_COSMICncMuts=COSV55522195;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCI:I784L&FANCI:I877L&FANCI:R819int&FANCI:R819intd;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,11:133:0.08271:65:-48.2791:0.089:1,6,0,2,0,2,18,48,11,22,10,24:100:100 +15 89849327 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=32/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.3439G>A;CSQ_HGVSp=NP_001106849.1:p.Glu1147Lys;CSQ_HGVSg=15:g.89849327G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1475824;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55524967&COSV55524967;CSQ_COSMICncMuts=COSV55524967;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=0.628;CSQ_Mastermind_MMID3=FANCI:E1147K;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,10:130:0.07692:65:-100:0.1558:2,3,2,1,1,1,29,32,8,23,17,21:100:100 +15 89849327 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=FANCI;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=31/37;CSQ_INTRON=.;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.3259G>A;CSQ_HGVSp=NP_060663.2:p.Glu1087Lys;CSQ_HGVSg=15:g.89849327G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1475824;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55524967&COSV55524967;CSQ_COSMICncMuts=COSV55524967;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=0.628;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,10:130:0.07692:65:-100:0.1558:2,3,2,1,1,1,29,32,8,23,17,21:100:100 +15 89858602 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=FANCI;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=37/38;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=NM_001113378.2:c.3906T>C;CSQ_HGVSp=NP_001106849.1:p.Gly1302%3D;CSQ_HGVSg=15:g.89858602T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257489;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia&POLG-Related_Spectrum_Disorders¬_specified¬_provided;CSQ_gnomADg_AC=13494;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.43718;CSQ_gnomADe_AC=100931;CSQ_gnomADe_AN=246126;CSQ_gnomADe_AF=0.410079;CSQ_gnomADe_Hom=20979;CSQ_COSMICcMuts=COSV51519356&COSV51519356;CSQ_COSMICncMuts=COSV51519356&COSV51519356&COSV51519356&COSV51519356&COSV51519356&COSV51519356;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCI:G1209G&FANCI:G1242G&FANCI:G1302G;CSQ_CADD_PHRED=0.372 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,68:141:0.48227:65:-100:0.0844:16,21,2,10,9,10,30,43,11,18,13,26:100:100 +15 89858602 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=FANCI;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=36/37;CSQ_INTRON=.;CSQ_Feature=NM_018193.3;CSQ_HGVSc=NM_018193.3:c.3726T>C;CSQ_HGVSp=NP_060663.2:p.Gly1242%3D;CSQ_HGVSg=15:g.89858602T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257489;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_I&Fanconi_anemia&POLG-Related_Spectrum_Disorders¬_specified¬_provided;CSQ_gnomADg_AC=13494;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.43718;CSQ_gnomADe_AC=100931;CSQ_gnomADe_AN=246126;CSQ_gnomADe_AF=0.410079;CSQ_gnomADe_Hom=20979;CSQ_COSMICcMuts=COSV51519356&COSV51519356;CSQ_COSMICncMuts=COSV51519356&COSV51519356&COSV51519356&COSV51519356&COSV51519356&COSV51519356;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCI:G1209G&FANCI:G1242G&FANCI:G1302G;CSQ_CADD_PHRED=0.372 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,68:141:0.48227:65:-100:0.0844:16,21,2,10,9,10,30,43,11,18,13,26:100:100 +15 89864316 . G GCTAC 100 PASS DP=122;CSQ_Allele=CTAC;CSQ_SYMBOL=FANCI;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001113378.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=15:g.89864318_89864319insACCT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=619386;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Progressive_sclerosing_poliodystrophy¬_provided;CSQ_gnomADg_AC=17575;CSQ_gnomADg_AN=30674;CSQ_gnomADg_AF=0.572961;CSQ_gnomADe_AC=120873;CSQ_gnomADe_AN=245778;CSQ_gnomADe_AF=0.491797;CSQ_gnomADe_Hom=30578;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,60:122:0.4918:65:-100:0:11,21,5,11,3,9,21,36,8,29,9,19:100:100 +15 89864316 . G GCTAC 100 PASS DP=122;CSQ_Allele=CTAC;CSQ_SYMBOL=FANCI;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_018193.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=15:g.89864318_89864319insACCT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=619386;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Progressive_sclerosing_poliodystrophy¬_provided;CSQ_gnomADg_AC=17575;CSQ_gnomADg_AN=30674;CSQ_gnomADg_AF=0.572961;CSQ_gnomADe_AC=120873;CSQ_gnomADe_AN=245778;CSQ_gnomADe_AF=0.491797;CSQ_gnomADe_Hom=30578;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,60:122:0.4918:65:-100:0:11,21,5,11,3,9,21,36,8,29,9,19:100:100 +15 90628537 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=IDH2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_001289910.1;CSQ_HGVSc=NM_001289910.1:c.894C>T;CSQ_HGVSp=NP_001276839.1:p.Thr298%3D;CSQ_HGVSg=15:g.90628537G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158663;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=D-2-hydroxyglutaric_aciduria_2¬_specified¬_provided;CSQ_gnomADg_AC=1609;CSQ_gnomADg_AN=30746;CSQ_gnomADg_AF=0.052332;CSQ_gnomADe_AC=5121;CSQ_gnomADe_AN=149414;CSQ_gnomADe_AF=0.0342739;CSQ_gnomADe_Hom=353;CSQ_COSMICcMuts=COSV51561583&COSV51561583&COSV51561583&COSV51561583;CSQ_COSMICncMuts=COSV51561583&COSV51561583&COSV51561583;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IDH2:T220T&IDH2:T298T&IDH2:T350T;CSQ_CADD_PHRED=0.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,20:140:0.14286:65:-100:0.1026:2,10,1,4,1,2,19,54,15,19,15,18:100:100 +15 90628537 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=IDH2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_002168.4;CSQ_HGVSc=NM_002168.4:c.1050C>T;CSQ_HGVSp=NP_002159.2:p.Thr350%3D;CSQ_HGVSg=15:g.90628537G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158663;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=D-2-hydroxyglutaric_aciduria_2¬_specified¬_provided;CSQ_gnomADg_AC=1609;CSQ_gnomADg_AN=30746;CSQ_gnomADg_AF=0.052332;CSQ_gnomADe_AC=5121;CSQ_gnomADe_AN=149414;CSQ_gnomADe_AF=0.0342739;CSQ_gnomADe_Hom=353;CSQ_COSMICcMuts=COSV51561583&COSV51561583&COSV51561583&COSV51561583;CSQ_COSMICncMuts=COSV51561583&COSV51561583&COSV51561583;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IDH2:T220T&IDH2:T298T&IDH2:T350T;CSQ_CADD_PHRED=0.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,20:140:0.14286:65:-100:0.1026:2,10,1,4,1,2,19,54,15,19,15,18:100:100 +15 90631700 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=IDH2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001289910.1;CSQ_HGVSc=NM_001289910.1:c.413G>A;CSQ_HGVSp=NP_001276839.1:p.Gly138Asp;CSQ_HGVSg=15:g.90631700C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57470086&COSV57470086&COSV57470086&COSV57470086;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.826;CSQ_Mastermind_MMID3=IDH2:G138D&IDH2:G190D;CSQ_CADD_PHRED=25.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,11:148:0.07432:65:-100:0.1543:4,3,1,1,1,1,34,49,13,20,12,20:100:100 +15 90631700 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=IDH2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_002168.4;CSQ_HGVSc=NM_002168.4:c.569G>A;CSQ_HGVSp=NP_002159.2:p.Gly190Asp;CSQ_HGVSg=15:g.90631700C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57470086&COSV57470086&COSV57470086&COSV57470086;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.826;CSQ_Mastermind_MMID3=IDH2:G138D&IDH2:G190D;CSQ_CADD_PHRED=25.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,11:148:0.07432:65:-100:0.1543:4,3,1,1,1,1,34,49,13,20,12,20:100:100 +15 90631825 . G A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=IDH2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_001289910.1;CSQ_HGVSc=NM_001289910.1:c.372C>T;CSQ_HGVSp=NP_001276839.1:p.Gly124%3D;CSQ_HGVSg=15:g.90631825G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57472055&COSV57472055&COSV57472055&COSV57472055;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.140 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-100:0.141:2,1,2,1,0,0,18,54,14,17,9,22:61.265:100 +15 90631825 . G A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=IDH2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_002168.4;CSQ_HGVSc=NM_002168.4:c.528C>T;CSQ_HGVSp=NP_002159.2:p.Gly176%3D;CSQ_HGVSg=15:g.90631825G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57472055&COSV57472055&COSV57472055&COSV57472055;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IDH2:G176G&IDH2:G46G;CSQ_CADD_PHRED=1.140 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,6:134:0.04478:65:-100:0.141:2,1,2,1,0,0,18,54,14,17,9,22:61.265:100 +15 91306241 . G T 100 PASS DP=155;CSQ_Allele=T;CSQ_SYMBOL=BLM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/22;CSQ_INTRON=.;CSQ_Feature=NM_000057.4;CSQ_HGVSc=NM_000057.4:c.1928G>T;CSQ_HGVSp=NP_000048.1:p.Arg643Leu;CSQ_HGVSg=15:g.91306241G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61923383&COSV61923383;CSQ_COSMICncMuts=COSV61923383;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.17;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.215;CSQ_Mastermind_MMID3=BLM:R643L;CSQ_CADD_PHRED=16.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,23:155:0.14839:65:-100:0.1341:1,8,1,7,0,6,18,54,13,26,9,35:100:100 +15 91306241 . G T 100 PASS DP=155;CSQ_Allele=T;CSQ_SYMBOL=BLM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/23;CSQ_INTRON=.;CSQ_Feature=NM_001287246.2;CSQ_HGVSc=NM_001287246.2:c.1928G>T;CSQ_HGVSp=NP_001274175.1:p.Arg643Leu;CSQ_HGVSg=15:g.91306241G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61923383&COSV61923383;CSQ_COSMICncMuts=COSV61923383;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.17;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.215;CSQ_Mastermind_MMID3=BLM:R643L;CSQ_CADD_PHRED=16.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,23:155:0.14839:65:-100:0.1341:1,8,1,7,0,6,18,54,13,26,9,35:100:100 +15 91306241 . G T 100 PASS DP=155;CSQ_Allele=T;CSQ_SYMBOL=BLM;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/20;CSQ_INTRON=.;CSQ_Feature=NM_001287247.2;CSQ_HGVSc=NM_001287247.2:c.1928G>T;CSQ_HGVSp=NP_001274176.1:p.Arg643Leu;CSQ_HGVSg=15:g.91306241G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61923383&COSV61923383;CSQ_COSMICncMuts=COSV61923383;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.17;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=0.215;CSQ_Mastermind_MMID3=BLM:R643L;CSQ_CADD_PHRED=16.62 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,23:155:0.14839:65:-100:0.1341:1,8,1,7,0,6,18,54,13,26,9,35:100:100 +15 91337479 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=BLM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/22;CSQ_INTRON=.;CSQ_Feature=NM_000057.4;CSQ_HGVSc=NM_000057.4:c.3102G>A;CSQ_HGVSp=NP_000048.1:p.Thr1034%3D;CSQ_HGVSg=15:g.91337479G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92394;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified;CSQ_gnomADg_AC=5783;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.187213;CSQ_gnomADe_AC=38072;CSQ_gnomADe_AN=243880;CSQ_gnomADe_AF=0.15611;CSQ_gnomADe_Hom=3180;CSQ_COSMICcMuts=COSV61922650&COSV61922650;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:T1034T&BLM:T659T;CSQ_CADD_PHRED=4.837 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,14:136:0.10294:65:-100:0.1169:2,6,0,3,0,3,18,49,9,21,11,28:100:100 +15 91337479 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=BLM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/23;CSQ_INTRON=.;CSQ_Feature=NM_001287246.2;CSQ_HGVSc=NM_001287246.2:c.3102G>A;CSQ_HGVSp=NP_001274175.1:p.Thr1034%3D;CSQ_HGVSg=15:g.91337479G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92394;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified;CSQ_gnomADg_AC=5783;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.187213;CSQ_gnomADe_AC=38072;CSQ_gnomADe_AN=243880;CSQ_gnomADe_AF=0.15611;CSQ_gnomADe_Hom=3180;CSQ_COSMICcMuts=COSV61922650&COSV61922650;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:T1034T&BLM:T659T;CSQ_CADD_PHRED=4.837 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,14:136:0.10294:65:-100:0.1169:2,6,0,3,0,3,18,49,9,21,11,28:100:100 +15 91337479 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=BLM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/20;CSQ_INTRON=.;CSQ_Feature=NM_001287247.2;CSQ_HGVSc=NM_001287247.2:c.3102G>A;CSQ_HGVSp=NP_001274176.1:p.Thr1034%3D;CSQ_HGVSg=15:g.91337479G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92394;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified;CSQ_gnomADg_AC=5783;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.187213;CSQ_gnomADe_AC=38072;CSQ_gnomADe_AN=243880;CSQ_gnomADe_AF=0.15611;CSQ_gnomADe_Hom=3180;CSQ_COSMICcMuts=COSV61922650&COSV61922650;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:T1034T&BLM:T659T;CSQ_CADD_PHRED=4.837 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,14:136:0.10294:65:-100:0.1169:2,6,0,3,0,3,18,49,9,21,11,28:100:100 +15 91346923 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=BLM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/22;CSQ_INTRON=.;CSQ_Feature=NM_000057.4;CSQ_HGVSc=NM_000057.4:c.3531C>A;CSQ_HGVSp=NP_000048.1:p.Ala1177%3D;CSQ_HGVSg=15:g.91346923C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92395;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5208;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.168315;CSQ_gnomADe_AC=37258;CSQ_gnomADe_AN=246136;CSQ_gnomADe_AF=0.151372;CSQ_gnomADe_Hom=3035;CSQ_COSMICcMuts=COSV61922667&COSV61922667;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:A1177A&BLM:A802A&BLM:E1120int&BLM:E1120intd;CSQ_CADD_PHRED=5.138 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.1557:2,3,2,3,2,2,19,43,6,35,9,29:100:100 +15 91346923 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=BLM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/23;CSQ_INTRON=.;CSQ_Feature=NM_001287246.2;CSQ_HGVSc=NM_001287246.2:c.3531C>A;CSQ_HGVSp=NP_001274175.1:p.Ala1177%3D;CSQ_HGVSg=15:g.91346923C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92395;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5208;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.168315;CSQ_gnomADe_AC=37258;CSQ_gnomADe_AN=246136;CSQ_gnomADe_AF=0.151372;CSQ_gnomADe_Hom=3035;CSQ_COSMICcMuts=COSV61922667&COSV61922667;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:A1177A&BLM:A802A&BLM:E1120int&BLM:E1120intd;CSQ_CADD_PHRED=5.138 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.1557:2,3,2,3,2,2,19,43,6,35,9,29:100:100 +15 91346923 . C A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=BLM;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/19;CSQ_Feature=NM_001287247.2;CSQ_HGVSc=NM_001287247.2:c.3358+5356C>A;CSQ_HGVSp=.;CSQ_HGVSg=15:g.91346923C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92395;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5208;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.168315;CSQ_gnomADe_AC=37258;CSQ_gnomADe_AN=246136;CSQ_gnomADe_AF=0.151372;CSQ_gnomADe_Hom=3035;CSQ_COSMICcMuts=COSV61922667&COSV61922667;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:A1177A&BLM:A802A&BLM:E1120int&BLM:E1120intd;CSQ_CADD_PHRED=5.138 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.1557:2,3,2,3,2,2,19,43,6,35,9,29:100:100 +15 91354505 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=BLM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/22;CSQ_INTRON=.;CSQ_Feature=NM_000057.4;CSQ_HGVSc=NM_000057.4:c.3945C>T;CSQ_HGVSp=NP_000048.1:p.Leu1315%3D;CSQ_HGVSg=15:g.91354505C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92396;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5209;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.168369;CSQ_gnomADe_AC=37295;CSQ_gnomADe_AN=246218;CSQ_gnomADe_AF=0.151471;CSQ_gnomADe_Hom=3038;CSQ_COSMICcMuts=COSV61924062&COSV61924062;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:L1184L&BLM:L1315L&BLM:L940L;CSQ_CADD_PHRED=0.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,26:143:0.18182:65:-100:0.1488:6,7,0,6,5,2,15,43,11,31,19,24:100:100 +15 91354505 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=BLM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/23;CSQ_INTRON=.;CSQ_Feature=NM_001287246.2;CSQ_HGVSc=NM_001287246.2:c.3945C>T;CSQ_HGVSp=NP_001274175.1:p.Leu1315%3D;CSQ_HGVSg=15:g.91354505C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92396;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5209;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.168369;CSQ_gnomADe_AC=37295;CSQ_gnomADe_AN=246218;CSQ_gnomADe_AF=0.151471;CSQ_gnomADe_Hom=3038;CSQ_COSMICcMuts=COSV61924062&COSV61924062;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:L1184L&BLM:L1315L&BLM:L940L;CSQ_CADD_PHRED=0.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,26:143:0.18182:65:-100:0.1488:6,7,0,6,5,2,15,43,11,31,19,24:100:100 +15 91354505 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=BLM;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/20;CSQ_INTRON=.;CSQ_Feature=NM_001287247.2;CSQ_HGVSc=NM_001287247.2:c.3552C>T;CSQ_HGVSp=NP_001274176.1:p.Leu1184%3D;CSQ_HGVSg=15:g.91354505C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=92396;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bloom_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5209;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.168369;CSQ_gnomADe_AC=37295;CSQ_gnomADe_AN=246218;CSQ_gnomADe_AF=0.151471;CSQ_gnomADe_Hom=3038;CSQ_COSMICcMuts=COSV61924062&COSV61924062;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BLM:L1184L&BLM:L1315L&BLM:L940L;CSQ_CADD_PHRED=0.111 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,26:143:0.18182:65:-100:0.1488:6,7,0,6,5,2,15,43,11,31,19,24:100:100 +15 93482927 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=CHD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/13;CSQ_INTRON=.;CSQ_Feature=NM_001042572.3;CSQ_HGVSc=NM_001042572.3:c.671G>A;CSQ_HGVSp=NP_001036037.1:p.Arg224Gln;CSQ_HGVSg=15:g.93482927G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=3.2281e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245788;CSQ_gnomADe_AF=4.06855e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59120561&COSV59120561&COSV59120561&COSV59120561;CSQ_COSMICncMuts=COSV59120561&COSV59120561;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.684;CSQ_Mastermind_MMID3=CHD2:R224Q;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,7:130:0.05385:65:-100:0.1875:3,0,1,1,0,2,22,44,17,20,7,20:65.165:100 +15 93482927 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=CHD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.671G>A;CSQ_HGVSp=NP_001262.3:p.Arg224Gln;CSQ_HGVSg=15:g.93482927G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=3.2281e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245788;CSQ_gnomADe_AF=4.06855e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59120561&COSV59120561&COSV59120561&COSV59120561;CSQ_COSMICncMuts=COSV59120561&COSV59120561;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.684;CSQ_Mastermind_MMID3=CHD2:R224Q;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,7:130:0.05385:65:-100:0.1875:3,0,1,1,0,2,22,44,17,20,7,20:65.165:100 +15 93510603 . A G 100 PASS DP=114;CSQ_Allele=G;CSQ_SYMBOL=CHD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.2049A>G;CSQ_HGVSp=NP_001262.3:p.Glu683%3D;CSQ_HGVSg=15:g.93510603A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257706;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Developmental_and_epileptic_encephalopathy_94&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=23768;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.770837;CSQ_gnomADe_AC=208470;CSQ_gnomADe_AN=245512;CSQ_gnomADe_AF=0.849123;CSQ_gnomADe_Hom=89503;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD2:E683E;CSQ_CADD_PHRED=10.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,65:114:0.57018:65:-100:0.1231:12,21,5,7,9,11,20,35,8,13,14,24:100:100 +15 93521604 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=CHD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.2718A>G;CSQ_HGVSp=NP_001262.3:p.Gln906%3D;CSQ_HGVSg=15:g.93521604A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257708;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Developmental_and_epileptic_encephalopathy_94&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=23282;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.753414;CSQ_gnomADe_AC=205648;CSQ_gnomADe_AN=243720;CSQ_gnomADe_AF=0.843788;CSQ_gnomADe_Hom=87956;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD2:Q906Q;CSQ_CADD_PHRED=11.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,56:101:0.55446:65:-100:0.229:6,22,3,8,6,11,15,31,5,19,12,19:100:100 +15 93522422 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=CHD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.2785G>A;CSQ_HGVSp=NP_001262.3:p.Ala929Thr;CSQ_HGVSg=15:g.93522422G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67707040&COSV67707040;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.800;CSQ_Mastermind_MMID3=CHD2:A929T;CSQ_CADD_PHRED=29.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,17:123:0.13821:65:-100:0.1399:4,5,2,1,2,3,27,43,11,13,10,19:100:100 +15 93536197 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=CHD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=28/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.3564C>T;CSQ_HGVSp=NP_001262.3:p.Tyr1188%3D;CSQ_HGVSg=15:g.93536197C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257709;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Developmental_and_epileptic_encephalopathy_94&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=6812;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.220282;CSQ_gnomADe_AC=55123;CSQ_gnomADe_AN=245296;CSQ_gnomADe_AF=0.22472;CSQ_gnomADe_Hom=6800;CSQ_COSMICcMuts=COSV67710004&COSV67710004;CSQ_COSMICncMuts=COSV67710004&COSV67710004&COSV67710004;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD2:Y1188Y;CSQ_CADD_PHRED=6.314 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,39:146:0.26712:65:-100:0.1609:3,17,3,3,3,10,16,56,18,22,10,24:100:100 +15 93536206 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=CHD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=28/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.3573G>A;CSQ_HGVSp=NP_001262.3:p.Gln1191%3D;CSQ_HGVSg=15:g.93536206G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=384405;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Developmental_and_epileptic_encephalopathy_94&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=83;CSQ_gnomADg_AN=30990;CSQ_gnomADg_AF=0.00267828;CSQ_gnomADe_AC=169;CSQ_gnomADe_AN=245256;CSQ_gnomADe_AF=0.000689076;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.718 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,17:143:0.11888:65:-100:0.1538:3,9,1,1,1,2,17,55,16,21,8,26:100:100 +15 93545443 . CAGA C 100 PASS DP=103;CSQ_Allele=-;CSQ_SYMBOL=CHD2;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=33/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.4182_4184del;CSQ_HGVSp=NP_001262.3:p.Lys1395del;CSQ_HGVSg=15:g.93545451_93545453del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=220680;CSQ_gnomADe_AF=9.0629e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,13:103:0.12621:65:-100:0:0,4,1,2,3,3,15,38,6,14,10,19:100:100 +15 93545488 . T A 100 PASS DP=115;CSQ_Allele=A;CSQ_SYMBOL=CHD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=33/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.4219T>A;CSQ_HGVSp=NP_001262.3:p.Ser1407Thr;CSQ_HGVSg=15:g.93545488T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=238881;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Developmental_and_epileptic_encephalopathy_94&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=341;CSQ_gnomADg_AN=30656;CSQ_gnomADg_AF=0.0111234;CSQ_gnomADe_AC=3416;CSQ_gnomADe_AN=234020;CSQ_gnomADe_AF=0.014597;CSQ_gnomADe_Hom=64;CSQ_COSMICcMuts=COSV104431400&COSV104431400;CSQ_COSMICncMuts=COSV104431400&COSV104431400;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.019;CSQ_Mastermind_MMID3=CHD2:S1407T;CSQ_CADD_PHRED=19.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,6:115:0.05217:65:-99.3855:0.1786:2,3,0,0,0,1,23,33,14,21,11,13:63.124:100 +15 93547886 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=CHD2;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=34/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.4318C>T;CSQ_HGVSp=NP_001262.3:p.Arg1440Ter;CSQ_HGVSg=15:g.93547886C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV67707051&COSV67707051;CSQ_COSMICncMuts=COSV67707051&COSV67707051;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD2:R1440X;CSQ_CADD_PHRED=39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,18:134:0.13433:65:-100:0.1242:2,9,3,2,1,1,19,42,12,25,8,28:100:100 +15 93552488 . C T 100 PASS DP=154;CSQ_Allele=T;CSQ_SYMBOL=CHD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=35/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.4527C>T;CSQ_HGVSp=NP_001262.3:p.Ile1509%3D;CSQ_HGVSg=15:g.93552488C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257711;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Developmental_and_epileptic_encephalopathy_94&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=1743;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0562948;CSQ_gnomADe_AC=11036;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.0448345;CSQ_gnomADe_Hom=491;CSQ_COSMICcMuts=COSV104431434&COSV104431434;CSQ_COSMICncMuts=COSV104431434;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD2:I1509I;CSQ_CADD_PHRED=9.457 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,8:154:0.05195:65:-100:0.2021:0,6,0,0,0,2,19,65,13,19,15,23:76.035:100 +15 93557954 . G C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=CHD2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=37/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.4721G>C;CSQ_HGVSp=NP_001262.3:p.Gly1574Ala;CSQ_HGVSg=15:g.93557954G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257712;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Developmental_and_epileptic_encephalopathy_94&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=730;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.0235864;CSQ_gnomADe_AC=5119;CSQ_gnomADe_AN=246178;CSQ_gnomADe_AF=0.0207939;CSQ_gnomADe_Hom=72;CSQ_COSMICcMuts=COSV99063985&COSV99063985;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.358;CSQ_Mastermind_MMID3=CHD2:G1574A;CSQ_CADD_PHRED=19.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,9:141:0.06383:65:-100:0.0903:1,2,1,0,2,3,24,52,9,22,15,19:91.176:100 +15 93567864 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=CHD2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=39/39;CSQ_INTRON=.;CSQ_Feature=NM_001271.4;CSQ_HGVSc=NM_001271.4:c.5416A>C;CSQ_HGVSp=NP_001262.3:p.Arg1806%3D;CSQ_HGVSg=15:g.93567864A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257713;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Developmental_and_epileptic_encephalopathy_94&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=8257;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.267061;CSQ_gnomADe_AC=72364;CSQ_gnomADe_AN=246194;CSQ_gnomADe_AF=0.293931;CSQ_gnomADe_Hom=12473;CSQ_COSMICcMuts=COSV67710013;CSQ_COSMICncMuts=COSV67710013&COSV67710013;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHD2:R1806R;CSQ_CADD_PHRED=10.54 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,13:138:0.0942:65:-100:0.1481:2,5,1,1,1,3,24,48,9,21,13,23:100:100 +15 99465473 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=IGF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/21;CSQ_INTRON=.;CSQ_Feature=NM_000875.5;CSQ_HGVSc=NM_000875.5:c.2298C>T;CSQ_HGVSp=NP_000866.1:p.Thr766%3D;CSQ_HGVSg=15:g.99465473C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=193818;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Growth_delay_due_to_insulin-like_growth_factor_I_resistance¬_specified¬_provided;CSQ_gnomADg_AC=2063;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0666731;CSQ_gnomADe_AC=23647;CSQ_gnomADe_AN=246224;CSQ_gnomADe_AF=0.0960386;CSQ_gnomADe_Hom=2223;CSQ_COSMICcMuts=COSV51269338&COSV51269338;CSQ_COSMICncMuts=COSV51269338&COSV51269338&COSV51269338;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IGF1R:E829int&IGF1R:E829inta&IGF1R:T766T;CSQ_CADD_PHRED=3.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,11:149:0.07383:65:-100:0.1768:2,3,1,2,1,2,19,54,7,25,13,31:94.261:100 +15 99465657 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=IGF1R;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/21;CSQ_INTRON=.;CSQ_Feature=NM_000875.5;CSQ_HGVSc=NM_000875.5:c.2482G>A;CSQ_HGVSp=NP_000866.1:p.Ala828Thr;CSQ_HGVSg=15:g.99465657G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=3.2306e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.165;CSQ_Mastermind_MMID3=IGF1R:A828T&IGF1R:E829int&IGF1R:E829inta;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,7:140:0.05:65:-100:0.1716:2,1,1,1,1,1,21,50,16,22,8,23:72.383:100 +15 99478069 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=IGF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/21;CSQ_INTRON=.;CSQ_Feature=NM_000875.5;CSQ_HGVSc=NM_000875.5:c.2973G>A;CSQ_HGVSp=NP_000866.1:p.Glu991%3D;CSQ_HGVSg=15:g.99478069G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51357029&COSV51357029;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IGF1R:E991E;CSQ_CADD_PHRED=8.929 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,11:150:0.07333:65:-100:0.1279:2,4,0,3,1,1,25,54,10,31,8,22:100:100 +15 99478225 . G A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=IGF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/21;CSQ_INTRON=.;CSQ_Feature=NM_000875.5;CSQ_HGVSc=NM_000875.5:c.3129G>A;CSQ_HGVSp=NP_000866.1:p.Glu1043%3D;CSQ_HGVSg=15:g.99478225G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=194610;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Growth_delay_due_to_insulin-like_growth_factor_I_resistance¬_specified¬_provided;CSQ_gnomADg_AC=12187;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.394529;CSQ_gnomADe_AC=97679;CSQ_gnomADe_AN=246122;CSQ_gnomADe_AF=0.396872;CSQ_gnomADe_Hom=20203;CSQ_COSMICcMuts=COSV51291816&COSV51291816;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IGF1R:E1042E&IGF1R:E1043E;CSQ_CADD_PHRED=3.408 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,29:134:0.21642:65:-100:0.0884:1,14,1,5,2,6,16,55,6,20,12,25:100:100 +15 99500605 . C T 100 PASS DP=156;CSQ_Allele=T;CSQ_SYMBOL=IGF1R;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_000875.5;CSQ_HGVSc=NM_000875.5:c.4038C>T;CSQ_HGVSp=NP_000866.1:p.Tyr1346%3D;CSQ_HGVSg=15:g.99500605C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=287436;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Growth_delay_due_to_insulin-like_growth_factor_I_resistance¬_specified¬_provided;CSQ_gnomADg_AC=1990;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0643056;CSQ_gnomADe_AC=14473;CSQ_gnomADe_AN=244308;CSQ_gnomADe_AF=0.0592408;CSQ_gnomADe_Hom=573;CSQ_COSMICcMuts=COSV51294127&COSV51294127;CSQ_COSMICncMuts=COSV51294127;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=IGF1R:Y1345Y&IGF1R:Y1346Y;CSQ_CADD_PHRED=5.654 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,14:156:0.08974:65:-100:0.1034:5,5,1,1,0,2,21,62,15,27,6,25:100:100 +16 339493 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_003502.4;CSQ_HGVSc=NM_003502.4:c.2409C>T;CSQ_HGVSp=NP_003493.1:p.Arg803%3D;CSQ_HGVSg=16:g.339493G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=787969;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=212;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.00685507;CSQ_gnomADe_AC=543;CSQ_gnomADe_AN=245492;CSQ_gnomADe_AF=0.00221188;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV104574460&COSV104574460;CSQ_COSMICncMuts=COSV104574460&COSV104574460&COSV104574460&COSV104574460&COSV104574460&COSV104574460&COSV104574460;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:R767R&AXIN1:R803R;CSQ_CADD_PHRED=0.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,12:126:0.09524:65:-100:0.1765:2,4,3,0,1,2,16,42,19,22,8,19:100:100 +16 339493 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_181050.3;CSQ_HGVSc=NM_181050.3:c.2301C>T;CSQ_HGVSp=NP_851393.1:p.Arg767%3D;CSQ_HGVSg=16:g.339493G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=787969;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=212;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.00685507;CSQ_gnomADe_AC=543;CSQ_gnomADe_AN=245492;CSQ_gnomADe_AF=0.00221188;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV104574460&COSV104574460;CSQ_COSMICncMuts=COSV104574460&COSV104574460&COSV104574460&COSV104574460&COSV104574460&COSV104574460&COSV104574460;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:R767R&AXIN1:R803R;CSQ_CADD_PHRED=0.152 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,12:126:0.09524:65:-100:0.1765:2,4,3,0,1,2,16,42,19,22,8,19:100:100 +16 347070 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_003502.4;CSQ_HGVSc=NM_003502.4:c.1941C>G;CSQ_HGVSp=NP_003493.1:p.Arg647%3D;CSQ_HGVSg=16:g.347070G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=41;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.00132703;CSQ_gnomADe_AC=117;CSQ_gnomADe_AN=244696;CSQ_gnomADe_AF=0.000478144;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:R647R;CSQ_CADD_PHRED=0.745 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,24:128:0.1875:65:-100:0.1688:5,6,0,5,6,2,24,39,14,24,18,9:100:100 +16 347070 . G C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_181050.3;CSQ_HGVSc=NM_181050.3:c.1941C>G;CSQ_HGVSp=NP_851393.1:p.Arg647%3D;CSQ_HGVSg=16:g.347070G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=41;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.00132703;CSQ_gnomADe_AC=117;CSQ_gnomADe_AN=244696;CSQ_gnomADe_AF=0.000478144;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:R647R;CSQ_CADD_PHRED=0.745 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,24:128:0.1875:65:-100:0.1688:5,6,0,5,6,2,24,39,14,24,18,9:100:100 +16 347184 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_003502.4;CSQ_HGVSc=NM_003502.4:c.1827T>C;CSQ_HGVSp=NP_003493.1:p.Ala609%3D;CSQ_HGVSg=16:g.347184A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7714;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.250113;CSQ_gnomADe_AC=46110;CSQ_gnomADe_AN=243984;CSQ_gnomADe_AF=0.188988;CSQ_gnomADe_Hom=5336;CSQ_COSMICcMuts=COSV51983098&COSV51983098;CSQ_COSMICncMuts=COSV51983098&COSV51983098;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:A609A;CSQ_CADD_PHRED=0.036 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,54:161:0.3354:65:-100:0.1481:12,12,7,15,5,3,30,55,18,29,13,16:100:100 +16 347184 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_181050.3;CSQ_HGVSc=NM_181050.3:c.1827T>C;CSQ_HGVSp=NP_851393.1:p.Ala609%3D;CSQ_HGVSg=16:g.347184A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7714;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.250113;CSQ_gnomADe_AC=46110;CSQ_gnomADe_AN=243984;CSQ_gnomADe_AF=0.188988;CSQ_gnomADe_Hom=5336;CSQ_COSMICcMuts=COSV51983098&COSV51983098;CSQ_COSMICncMuts=COSV51983098&COSV51983098;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:A609A;CSQ_CADD_PHRED=0.036 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,54:161:0.3354:65:-100:0.1481:12,12,7,15,5,3,30,55,18,29,13,16:100:100 +16 348222 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_003502.4;CSQ_HGVSc=NM_003502.4:c.1284G>A;CSQ_HGVSp=NP_003493.1:p.Ser428%3D;CSQ_HGVSg=16:g.348222C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7724;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.250259;CSQ_gnomADe_AC=23577;CSQ_gnomADe_AN=135338;CSQ_gnomADe_AF=0.174208;CSQ_gnomADe_Hom=2639;CSQ_COSMICcMuts=COSV51984059&COSV51984059;CSQ_COSMICncMuts=COSV51984059;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:S428S;CSQ_CADD_PHRED=0.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,44:135:0.32593:65:-100:0.1234:5,16,4,0,3,16,16,48,14,13,15,29:100:100 +16 348222 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_181050.3;CSQ_HGVSc=NM_181050.3:c.1284G>A;CSQ_HGVSp=NP_851393.1:p.Ser428%3D;CSQ_HGVSg=16:g.348222C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7724;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.250259;CSQ_gnomADe_AC=23577;CSQ_gnomADe_AN=135338;CSQ_gnomADe_AF=0.174208;CSQ_gnomADe_Hom=2639;CSQ_COSMICcMuts=COSV51984059&COSV51984059;CSQ_COSMICncMuts=COSV51984059;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:S428S;CSQ_CADD_PHRED=0.233 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,44:135:0.32593:65:-100:0.1234:5,16,4,0,3,16,16,48,14,13,15,29:100:100 +16 396264 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_003502.4;CSQ_HGVSc=NM_003502.4:c.762T>C;CSQ_HGVSp=NP_003493.1:p.Asp254%3D;CSQ_HGVSg=16:g.396264A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402405;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=20896;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.676596;CSQ_gnomADe_AC=149711;CSQ_gnomADe_AN=246222;CSQ_gnomADe_AF=0.608033;CSQ_gnomADe_Hom=47918;CSQ_COSMICcMuts=COSV51987760&COSV51987760;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:D254D;CSQ_CADD_PHRED=0.043 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,88:157:0.56051:65:-100:0.1326:12,35,6,12,6,17,24,58,12,23,11,29:100:100 +16 396264 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=AXIN1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_181050.3;CSQ_HGVSc=NM_181050.3:c.762T>C;CSQ_HGVSp=NP_851393.1:p.Asp254%3D;CSQ_HGVSg=16:g.396264A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402405;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=20896;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.676596;CSQ_gnomADe_AC=149711;CSQ_gnomADe_AN=246222;CSQ_gnomADe_AF=0.608033;CSQ_gnomADe_Hom=47918;CSQ_COSMICcMuts=COSV51987760&COSV51987760;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN1:D254D;CSQ_CADD_PHRED=0.043 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,88:157:0.56051:65:-100:0.1326:12,35,6,12,6,17,24,58,12,23,11,29:100:100 +16 2112521 . C A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=TSC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/42;CSQ_INTRON=.;CSQ_Feature=NM_000548.5;CSQ_HGVSc=NM_000548.5:c.1281C>A;CSQ_HGVSp=NP_000539.2:p.Ile427%3D;CSQ_HGVSg=16:g.2112521C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=49685;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Isolated_focal_cortical_dysplasia_type_II&Tuberous_sclerosis_syndrome&Lymphangiomyomatosis&Tuberous_sclerosis_2&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.00203659;CSQ_gnomADe_AC=416;CSQ_gnomADe_AN=242088;CSQ_gnomADe_AF=0.00171838;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV104587061&COSV104587061&COSV104587061&COSV104587061&COSV104587061&COSV104587061&COSV104587061;CSQ_COSMICncMuts=COSV104587061&COSV104587061&COSV104587061&COSV104587061;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC2:I227I&TSC2:I378I&TSC2:I390I&TSC2:I427I&TSC2:I438I;CSQ_CADD_PHRED=3.790 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,13:166:0.07831:65:-100:0.1487:4,1,1,1,2,4,35,53,16,26,14,22:100:100 +16 2112521 . C A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=TSC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/40;CSQ_INTRON=.;CSQ_Feature=NM_001077183.3;CSQ_HGVSc=NM_001077183.3:c.1281C>A;CSQ_HGVSp=NP_001070651.1:p.Ile427%3D;CSQ_HGVSg=16:g.2112521C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=49685;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Isolated_focal_cortical_dysplasia_type_II&Tuberous_sclerosis_syndrome&Lymphangiomyomatosis&Tuberous_sclerosis_2&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=63;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.00203659;CSQ_gnomADe_AC=416;CSQ_gnomADe_AN=242088;CSQ_gnomADe_AF=0.00171838;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV104587061&COSV104587061&COSV104587061&COSV104587061&COSV104587061&COSV104587061&COSV104587061;CSQ_COSMICncMuts=COSV104587061&COSV104587061&COSV104587061&COSV104587061;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC2:I227I&TSC2:I378I&TSC2:I390I&TSC2:I427I&TSC2:I438I;CSQ_CADD_PHRED=3.790 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,13:166:0.07831:65:-100:0.1487:4,1,1,1,2,4,35,53,16,26,14,22:100:100 +16 2120544 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=TSC2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/42;CSQ_INTRON=.;CSQ_Feature=NM_000548.5;CSQ_HGVSc=NM_000548.5:c.1804T>C;CSQ_HGVSp=NP_000539.2:p.Tyr602His;CSQ_HGVSg=16:g.2120544T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54757288&COSV54757288&COSV54757288&COSV54757288&COSV54757288&COSV54757288&COSV54757288;CSQ_COSMICncMuts=COSV54757288&COSV54757288&COSV54757288&COSV54757288;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.710;CSQ_Mastermind_MMID3=TSC2:Y602H;CSQ_CADD_PHRED=26.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,27:144:0.1875:65:-100:0.1676:6,8,1,5,5,2,18,61,6,25,12,22:100:100 +16 2120544 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=TSC2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/40;CSQ_INTRON=.;CSQ_Feature=NM_001077183.3;CSQ_HGVSc=NM_001077183.3:c.1804T>C;CSQ_HGVSp=NP_001070651.1:p.Tyr602His;CSQ_HGVSg=16:g.2120544T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54757288&COSV54757288&COSV54757288&COSV54757288&COSV54757288&COSV54757288&COSV54757288;CSQ_COSMICncMuts=COSV54757288&COSV54757288&COSV54757288&COSV54757288;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.710;CSQ_Mastermind_MMID3=TSC2:Y602H;CSQ_CADD_PHRED=26.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,27:144:0.1875:65:-100:0.1676:6,8,1,5,5,2,18,61,6,25,12,22:100:100 +16 2124258 . G A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=TSC2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/42;CSQ_INTRON=.;CSQ_Feature=NM_000548.5;CSQ_HGVSc=NM_000548.5:c.2413G>A;CSQ_HGVSp=NP_000539.2:p.Val805Ile;CSQ_HGVSg=16:g.2124258G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=570600;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tuberous_sclerosis_2&Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245568;CSQ_gnomADe_AF=4.07219e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308;CSQ_COSMICncMuts=COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.14;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.493;CSQ_Mastermind_MMID3=TSC2:V805I;CSQ_CADD_PHRED=24.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1111:5,2,1,3,1,5,25,53,10,26,15,31:100:100 +16 2124258 . G A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=TSC2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/40;CSQ_INTRON=.;CSQ_Feature=NM_001077183.3;CSQ_HGVSc=NM_001077183.3:c.2413G>A;CSQ_HGVSp=NP_001070651.1:p.Val805Ile;CSQ_HGVSg=16:g.2124258G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=570600;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tuberous_sclerosis_2&Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245568;CSQ_gnomADe_AF=4.07219e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308;CSQ_COSMICncMuts=COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308&COSV54757308;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.14;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.493;CSQ_Mastermind_MMID3=TSC2:V805I;CSQ_CADD_PHRED=24.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0.1111:5,2,1,3,1,5,25,53,10,26,15,31:100:100 +16 2134450 . G A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=TSC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=34/42;CSQ_INTRON=.;CSQ_Feature=NM_000548.5;CSQ_HGVSc=NM_000548.5:c.4227G>A;CSQ_HGVSp=NP_000539.2:p.Arg1409%3D;CSQ_HGVSg=16:g.2134450G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197;CSQ_COSMICncMuts=COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.04;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC2:R1343R&TSC2:R1365R&TSC2:R1409R;CSQ_CADD_PHRED=5.015 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,7:164:0.04268:65:-46.1919:0.159:0,3,0,1,2,1,26,70,11,22,14,21:69.981:100 +16 2134450 . G A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=TSC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=32/40;CSQ_INTRON=.;CSQ_Feature=NM_001077183.3;CSQ_HGVSc=NM_001077183.3:c.4026G>A;CSQ_HGVSp=NP_001070651.1:p.Arg1342%3D;CSQ_HGVSg=16:g.2134450G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197;CSQ_COSMICncMuts=COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197&COSV51927197;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.04;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.015 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,7:164:0.04268:65:-46.1919:0.159:0,3,0,1,2,1,26,70,11,22,14,21:69.981:100 +16 2138269 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=TSC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=41/42;CSQ_INTRON=.;CSQ_Feature=NM_000548.5;CSQ_HGVSc=NM_000548.5:c.5202T>C;CSQ_HGVSp=NP_000539.2:p.Asp1734%3D;CSQ_HGVSg=16:g.2138269T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=49895;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tuberous_sclerosis_syndrome&Lymphangiomyomatosis&Tuberous_sclerosis_2&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=9229;CSQ_gnomADg_AN=25410;CSQ_gnomADg_AF=0.363203;CSQ_gnomADe_AC=43702;CSQ_gnomADe_AN=245128;CSQ_gnomADe_AF=0.178282;CSQ_gnomADe_Hom=6255;CSQ_COSMICcMuts=COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353;CSQ_COSMICncMuts=COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC2:D1490D&TSC2:D1619D&TSC2:D1631D&TSC2:D1667D&TSC2:D1668D&TSC2:D1678D&TSC2:D1687D&TSC2:D1690D&TSC2:D1691D&TSC2:D1711D&TSC2:D1734D;CSQ_CADD_PHRED=8.719 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,40:146:0.27397:65:-100:0.1361:7,10,9,3,2,9,20,48,21,19,8,30:100:100 +16 2138269 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=TSC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=39/40;CSQ_INTRON=.;CSQ_Feature=NM_001077183.3;CSQ_HGVSc=NM_001077183.3:c.5001T>C;CSQ_HGVSp=NP_001070651.1:p.Asp1667%3D;CSQ_HGVSg=16:g.2138269T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=49895;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tuberous_sclerosis_syndrome&Lymphangiomyomatosis&Tuberous_sclerosis_2&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=9229;CSQ_gnomADg_AN=25410;CSQ_gnomADg_AF=0.363203;CSQ_gnomADe_AC=43702;CSQ_gnomADe_AN=245128;CSQ_gnomADe_AF=0.178282;CSQ_gnomADe_Hom=6255;CSQ_COSMICcMuts=COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353;CSQ_COSMICncMuts=COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353&COSV51916353;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC2:D1490D&TSC2:D1619D&TSC2:D1631D&TSC2:D1667D&TSC2:D1668D&TSC2:D1678D&TSC2:D1687D&TSC2:D1690D&TSC2:D1691D&TSC2:D1711D&TSC2:D1734D;CSQ_CADD_PHRED=8.719 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,40:146:0.27397:65:-100:0.1361:7,10,9,3,2,9,20,48,21,19,8,30:100:100 +16 2138584 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=TSC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=42/42;CSQ_INTRON=.;CSQ_Feature=NM_000548.5;CSQ_HGVSc=NM_000548.5:c.5397G>C;CSQ_HGVSp=NP_000539.2:p.Ser1799%3D;CSQ_HGVSg=16:g.2138584G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=49847;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tuberous_sclerosis_syndrome&Tuberous_sclerosis_2&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=2128;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0688094;CSQ_gnomADe_AC=17619;CSQ_gnomADe_AN=240258;CSQ_gnomADe_AF=0.0733337;CSQ_gnomADe_Hom=847;CSQ_COSMICcMuts=COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392;CSQ_COSMICncMuts=COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC2:S1555S&TSC2:S1684S&TSC2:S1696S&TSC2:S1732S&TSC2:S1733S&TSC2:S1743S&TSC2:S1752S&TSC2:S1755S&TSC2:S1756S&TSC2:S1776S&TSC2:S1799S;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,13:122:0.10656:65:-100:0.2026:2,5,1,3,0,2,14,39,18,18,13,20:100:100 +16 2138584 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=TSC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=40/40;CSQ_INTRON=.;CSQ_Feature=NM_001077183.3;CSQ_HGVSc=NM_001077183.3:c.5196G>C;CSQ_HGVSp=NP_001070651.1:p.Ser1732%3D;CSQ_HGVSg=16:g.2138584G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=49847;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Tuberous_sclerosis_syndrome&Tuberous_sclerosis_2&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=2128;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.0688094;CSQ_gnomADe_AC=17619;CSQ_gnomADe_AN=240258;CSQ_gnomADe_AF=0.0733337;CSQ_gnomADe_Hom=847;CSQ_COSMICcMuts=COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392;CSQ_COSMICncMuts=COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392&COSV99238392;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TSC2:S1555S&TSC2:S1684S&TSC2:S1696S&TSC2:S1732S&TSC2:S1733S&TSC2:S1743S&TSC2:S1752S&TSC2:S1755S&TSC2:S1756S&TSC2:S1776S&TSC2:S1799S;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,13:122:0.10656:65:-100:0.2026:2,5,1,3,0,2,14,39,18,18,13,20:100:100 +16 2225532 . TGAA T 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=TRAF7;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=17/21;CSQ_INTRON=.;CSQ_Feature=NM_032271.3;CSQ_HGVSc=NM_032271.3:c.1540_1542del;CSQ_HGVSp=NP_115647.2:p.Lys514del;CSQ_HGVSg=16:g.2225537_2225539del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58212961;CSQ_COSMICncMuts=COSV58212961&COSV58212961&COSV58212961&COSV58212961&COSV58212961;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,20:126:0.15873:65:-100:0:3,9,0,1,2,5,23,34,10,21,9,28:100:100 +16 2226331 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=TRAF7;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/21;CSQ_INTRON=.;CSQ_Feature=NM_032271.3;CSQ_HGVSc=NM_032271.3:c.1944G>A;CSQ_HGVSp=NP_115647.2:p.Ala648%3D;CSQ_HGVSg=16:g.2226331G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=6.46621e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58215881;CSQ_COSMICncMuts=COSV58215881&COSV58215881&COSV58215881&COSV58215881&COSV58215881;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.793 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,16:155:0.10323:65:-100:0.1341:0,6,1,4,1,4,17,58,8,33,7,32:100:100 +16 2647764 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PDPK1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001261816.2;CSQ_HGVSc=NM_001261816.2:c.*91A>G;CSQ_HGVSp=.;CSQ_HGVSg=16:g.2647764A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,12:113:0.10619:65:-100:0.2153:2,6,1,0,3,0,24,38,12,9,12,18:100:100 +16 2647764 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PDPK1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_002613.5;CSQ_HGVSc=NM_002613.5:c.1667A>G;CSQ_HGVSp=NP_002604.1:p.Gln556Arg;CSQ_HGVSg=16:g.2647764A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.131;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,12:113:0.10619:65:-100:0.2153:2,6,1,0,3,0,24,38,12,9,12,18:100:100 +16 2647764 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=PDPK1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_031268.6;CSQ_HGVSc=NM_031268.6:c.1286A>G;CSQ_HGVSp=NP_112558.2:p.Gln429Arg;CSQ_HGVSg=16:g.2647764A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.131;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=20.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,12:113:0.10619:65:-100:0.2153:2,6,1,0,3,0,24,38,12,9,12,18:100:100 +16 3639139 . A G 100 PASS DP=157;CSQ_Allele=G;CSQ_SYMBOL=SLX4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.4500T>C;CSQ_HGVSp=NP_115820.2:p.Asn1500%3D;CSQ_HGVSg=16:g.3639139A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=262053;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_P&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=19525;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.632696;CSQ_gnomADe_AC=148380;CSQ_gnomADe_AN=246028;CSQ_gnomADe_AF=0.603102;CSQ_gnomADe_Hom=46760;CSQ_COSMICcMuts=COSV53564459;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SLX4:N1500N;CSQ_CADD_PHRED=1.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:54,103:157:0.65605:65:-100:0.1326:22,35,7,18,5,16,31,55,8,30,9,24:100:100 +16 3639247 . GCTGTCGGCGGC G 100 PASS DP=177;CSQ_Allele=-;CSQ_SYMBOL=SLX4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.4381_4391del;CSQ_HGVSp=NP_115820.2:p.Ala1461ProfsTer2;CSQ_HGVSg=16:g.3639250_3639260del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1073979;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=242378;CSQ_gnomADe_AF=4.12579e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53560565;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,9:177:0.05085:65:-100:0:1,2,2,2,0,2,24,60,14,33,12,34:100:100 +16 3639977 . G A 100 PASS DP=159;CSQ_Allele=A;CSQ_SYMBOL=SLX4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.3662C>T;CSQ_HGVSp=NP_115820.2:p.Ala1221Val;CSQ_HGVSg=16:g.3639977G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=262048;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_P&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=1642;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.0532046;CSQ_gnomADe_AC=14391;CSQ_gnomADe_AN=245730;CSQ_gnomADe_AF=0.0585643;CSQ_gnomADe_Hom=525;CSQ_COSMICcMuts=COSV53566301;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=0.003;CSQ_Mastermind_MMID3=SLX4:A1221V;CSQ_CADD_PHRED=2.957 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,7:159:0.04403:65:-95.0578:0.1675:1,4,0,1,0,1,23,63,9,25,16,23:67.176:100 +16 3640274 . G A 100 PASS DP=180;CSQ_Allele=A;CSQ_SYMBOL=SLX4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.3365C>T;CSQ_HGVSp=NP_115820.2:p.Pro1122Leu;CSQ_HGVSg=16:g.3640274G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=262047;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_P&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=6163;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.199424;CSQ_gnomADe_AC=30715;CSQ_gnomADe_AN=246160;CSQ_gnomADe_AF=0.124777;CSQ_gnomADe_Hom=3155;CSQ_COSMICcMuts=COSV53561011;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.028;CSQ_Mastermind_MMID3=SLX4:P1122L;CSQ_CADD_PHRED=8.744 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:144,36:180:0.2:65:-100:0.1346:5,14,8,2,1,6,28,65,18,32,13,24:100:100 +16 3640784 . GC AT 100 PASS DP=149;CSQ_Allele=AT;CSQ_SYMBOL=SLX4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.2854_2855delinsAT;CSQ_HGVSp=NP_115820.2:p.Ala952Met;CSQ_HGVSg=16:g.3640784_3640785delinsAT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=215537;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome&Fanconi_anemia¬_specified;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SLX4:A952M;CSQ_CADD_PHRED=15.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,7:149:0.04698:65:-96.6195:0:0,3,0,2,0,2,50,98,22,52,18,54:81.368:100 +16 3644535 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=SLX4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.2079C>T;CSQ_HGVSp=NP_115820.2:p.Val693%3D;CSQ_HGVSg=16:g.3644535G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=697675;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_P&Fanconi_anemia;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.000129241;CSQ_gnomADe_AC=23;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=9.34185e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.29;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.925 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:167,16:183:0.08743:65:-100:0.1606:1,5,2,2,2,4,31,55,13,32,23,29:100:100 +16 3645607 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=SLX4;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.2012T>C;CSQ_HGVSp=NP_115820.2:p.Leu671Ser;CSQ_HGVSg=16:g.3645607A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=262040;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_P&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2297;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.0743895;CSQ_gnomADe_AC=15643;CSQ_gnomADe_AN=245350;CSQ_gnomADe_AF=0.0637579;CSQ_gnomADe_Hom=586;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.044;CSQ_Mastermind_MMID3=SLX4:L671S&SLX4:L671srd;CSQ_CADD_PHRED=3.982 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,8:130:0.06154:65:-100:0.1391:1,2,3,1,0,1,27,36,15,23,12,17:100:100 +16 3656482 . C T 100 PASS DP=167;CSQ_Allele=T;CSQ_SYMBOL=SLX4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.753G>A;CSQ_HGVSp=NP_115820.2:p.Ala251%3D;CSQ_HGVSg=16:g.3656482C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=262058;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_P&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=6773;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.218978;CSQ_gnomADe_AC=51965;CSQ_gnomADe_AN=244738;CSQ_gnomADe_AF=0.212329;CSQ_gnomADe_Hom=5865;CSQ_COSMICcMuts=COSV53567315;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SLX4:A251A;CSQ_CADD_PHRED=0.051 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,65:167:0.38922:65:-100:0.0973:11,23,8,9,6,8,25,54,20,32,13,23:100:100 +16 3658433 . C A 100 PASS DP=116;CSQ_Allele=A;CSQ_SYMBOL=SLX4;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/15;CSQ_INTRON=.;CSQ_Feature=NM_032444.4;CSQ_HGVSc=NM_032444.4:c.533G>T;CSQ_HGVSp=NP_115820.2:p.Arg178Ile;CSQ_HGVSg=16:g.3658433C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1486292;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53567596;CSQ_COSMICncMuts=COSV53567596;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.11;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.026;CSQ_Mastermind_MMID3=SLX4:R178I;CSQ_CADD_PHRED=6.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,7:116:0.06034:65:-100:0.1594:1,1,1,1,0,3,20,42,10,24,7,13:72.662:100 +16 3778424 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=30/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.6510A>G;CSQ_HGVSp=NP_001073315.1:p.Gln2170%3D;CSQ_HGVSg=16:g.3778424T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95064;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations&Rubinstein-Taybi_syndrome&Menke-Hennekam_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=577;CSQ_gnomADe_AN=240784;CSQ_gnomADe_AF=0.00239634;CSQ_gnomADe_Hom=8;CSQ_COSMICcMuts=COSV99269710&COSV99269710;CSQ_COSMICncMuts=COSV99269710&COSV99269710;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CREBBP:Q2170Q&CREBBP:Q2208Q;CSQ_CADD_PHRED=0.640 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-96.3602:0.1338:2,1,0,2,1,1,27,44,9,20,15,21:61.524:100 +16 3778424 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.6624A>G;CSQ_HGVSp=NP_004371.2:p.Gln2208%3D;CSQ_HGVSg=16:g.3778424T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95064;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations&Rubinstein-Taybi_syndrome&Menke-Hennekam_syndrome_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=577;CSQ_gnomADe_AN=240784;CSQ_gnomADe_AF=0.00239634;CSQ_gnomADe_Hom=8;CSQ_COSMICcMuts=COSV99269710&COSV99269710;CSQ_COSMICncMuts=COSV99269710&COSV99269710;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CREBBP:Q2170Q&CREBBP:Q2208Q;CSQ_CADD_PHRED=0.640 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,7:136:0.05147:65:-96.3602:0.1338:2,1,0,2,1,1,27,44,9,20,15,21:61.524:100 +16 3781274 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=29/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.4977C>T;CSQ_HGVSp=NP_001073315.1:p.Thr1659%3D;CSQ_HGVSg=16:g.3781274G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=9.69681e-05;CSQ_gnomADe_AC=17;CSQ_gnomADe_AN=245996;CSQ_gnomADe_AF=6.91068e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.371 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,10:148:0.06757:65:-100:0.1243:1,3,1,2,0,3,28,50,14,21,15,20:100:100 +16 3781274 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=30/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.5091C>T;CSQ_HGVSp=NP_004371.2:p.Thr1697%3D;CSQ_HGVSg=16:g.3781274G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=9.69681e-05;CSQ_gnomADe_AC=17;CSQ_gnomADe_AN=245996;CSQ_gnomADe_AF=6.91068e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.371 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,10:148:0.06757:65:-100:0.1243:1,3,1,2,0,3,28,50,14,21,15,20:100:100 +16 3781466 . G A 100 PASS DP=100;CSQ_Allele=A;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=29/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.4785C>T;CSQ_HGVSp=NP_001073315.1:p.Phe1595%3D;CSQ_HGVSg=16:g.3781466G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.819 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,10:100:0.1:65:-100:0.2:3,1,1,2,3,0,22,26,8,16,14,14:100:100 +16 3781466 . G A 100 PASS DP=100;CSQ_Allele=A;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=30/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.4899C>T;CSQ_HGVSp=NP_004371.2:p.Phe1633%3D;CSQ_HGVSg=16:g.3781466G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CREBBP:F1633F;CSQ_CADD_PHRED=9.819 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,10:100:0.1:65:-100:0.2:3,1,1,2,3,0,22,26,8,16,14,14:100:100 +16 3795292 . G T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.3786C>A;CSQ_HGVSp=NP_001073315.1:p.Ile1262%3D;CSQ_HGVSg=16:g.3795292G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158362;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=775;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0250242;CSQ_gnomADe_AC=8451;CSQ_gnomADe_AN=245612;CSQ_gnomADe_AF=0.0344079;CSQ_gnomADe_Hom=578;CSQ_COSMICcMuts=COSV52117708&COSV52117708;CSQ_COSMICncMuts=COSV52117708&COSV52117708;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CREBBP:I1262I&CREBBP:I1300I;CSQ_CADD_PHRED=12.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,18:161:0.1118:65:-100:0.1526:4,6,1,4,0,3,36,51,5,30,10,29:100:100 +16 3795292 . G T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.3900C>A;CSQ_HGVSp=NP_004371.2:p.Ile1300%3D;CSQ_HGVSg=16:g.3795292G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158362;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=775;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0250242;CSQ_gnomADe_AC=8451;CSQ_gnomADe_AN=245612;CSQ_gnomADe_AF=0.0344079;CSQ_gnomADe_Hom=578;CSQ_COSMICcMuts=COSV52117708&COSV52117708;CSQ_COSMICncMuts=COSV52117708&COSV52117708;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CREBBP:I1262I&CREBBP:I1300I;CSQ_CADD_PHRED=12.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,18:161:0.1118:65:-100:0.1526:4,6,1,4,0,3,36,51,5,30,10,29:100:100 +16 3817720 . CT C 100 PASS DP=152;CSQ_Allele=-;CSQ_SYMBOL=CREBBP;CSQ_Consequence=frameshift_variant&splice_region_variant;CSQ_IMPACT=HIGH;CSQ_EXON=15/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.3136del;CSQ_HGVSp=NP_001073315.1:p.Ile1046SerfsTer15;CSQ_HGVSg=16:g.3817727del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52114405&COSV52114405;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,6:152:0.03947:65:-97.4473:0:1,2,1,1,1,0,24,49,16,29,14,20:60.085:100 +16 3817720 . CT C 100 PASS DP=152;CSQ_Allele=-;CSQ_SYMBOL=CREBBP;CSQ_Consequence=frameshift_variant&splice_region_variant;CSQ_IMPACT=HIGH;CSQ_EXON=16/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.3250del;CSQ_HGVSp=NP_004371.2:p.Ile1084SerfsTer15;CSQ_HGVSg=16:g.3817727del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52114405&COSV52114405;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,6:152:0.03947:65:-97.4473:0:1,2,1,1,1,0,24,49,16,29,14,20:60.085:100 +16 3820667 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.2670G>A;CSQ_HGVSp=NP_001073315.1:p.Pro890%3D;CSQ_HGVSg=16:g.3820667C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158350;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=723;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.0233859;CSQ_gnomADe_AC=8399;CSQ_gnomADe_AN=246036;CSQ_gnomADe_AF=0.0341373;CSQ_gnomADe_Hom=606;CSQ_COSMICcMuts=COSV52117511&COSV52117511;CSQ_COSMICncMuts=COSV52117511&COSV52117511&COSV52117511&COSV52117511;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CREBBP:P890P&CREBBP:P928P;CSQ_CADD_PHRED=4.348 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,16:120:0.13333:65:-100:0.1304:2,5,0,1,3,5,14,43,7,20,10,26:100:100 +16 3820667 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.2784G>A;CSQ_HGVSp=NP_004371.2:p.Pro928%3D;CSQ_HGVSg=16:g.3820667C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=158350;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=723;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.0233859;CSQ_gnomADe_AC=8399;CSQ_gnomADe_AN=246036;CSQ_gnomADe_AF=0.0341373;CSQ_gnomADe_Hom=606;CSQ_COSMICcMuts=COSV52117511&COSV52117511;CSQ_COSMICncMuts=COSV52117511&COSV52117511&COSV52117511&COSV52117511;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CREBBP:P890P&CREBBP:P928P;CSQ_CADD_PHRED=4.348 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,16:120:0.13333:65:-100:0.1304:2,5,0,1,3,5,14,43,7,20,10,26:100:100 +16 3820854 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=CREBBP;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.2483T>C;CSQ_HGVSp=NP_001073315.1:p.Met828Thr;CSQ_HGVSg=16:g.3820854A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52115269&COSV52115269;CSQ_COSMICncMuts=COSV52115269&COSV52115269&COSV52115269&COSV52115269&COSV52115269;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.243;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,18:137:0.13139:65:-100:0.1988:2,3,4,5,2,2,28,41,12,31,9,16:100:100 +16 3820854 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=CREBBP;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.2597T>C;CSQ_HGVSp=NP_004371.2:p.Met866Thr;CSQ_HGVSg=16:g.3820854A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52115269&COSV52115269;CSQ_COSMICncMuts=COSV52115269&COSV52115269&COSV52115269&COSV52115269&COSV52115269;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.243;CSQ_Mastermind_MMID3=CREBBP:M866T;CSQ_CADD_PHRED=19.83 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,18:137:0.13139:65:-100:0.1988:2,3,4,5,2,2,28,41,12,31,9,16:100:100 +16 3828820 . T C 100 PASS DP=94;CSQ_Allele=C;CSQ_SYMBOL=CREBBP;CSQ_Consequence=splice_acceptor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=7/29;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.1710-2A>G;CSQ_HGVSp=.;CSQ_HGVSg=16:g.3828820T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.55;CSQ_SpliceAI_pred_DS_AL=0.99;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,14:94:0.14894:65:-100:0.1681:2,4,1,3,2,2,19,22,9,21,7,16:100:100 +16 3828820 . T C 100 PASS DP=94;CSQ_Allele=C;CSQ_SYMBOL=CREBBP;CSQ_Consequence=splice_acceptor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=8/30;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.1824-2A>G;CSQ_HGVSp=.;CSQ_HGVSg=16:g.3828820T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.55;CSQ_SpliceAI_pred_DS_AL=0.99;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:80,14:94:0.14894:65:-100:0.1681:2,4,1,3,2,2,19,22,9,21,7,16:100:100 +16 3900763 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.333C>T;CSQ_HGVSp=NP_001073315.1:p.Asn111%3D;CSQ_HGVSg=16:g.3900763G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95044;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=87;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.00281062;CSQ_gnomADe_AC=154;CSQ_gnomADe_AN=246074;CSQ_gnomADe_AF=0.000625828;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,23:152:0.15132:65:-100:0.0952:1,11,1,5,2,3,26,58,16,23,7,22:100:100 +16 3900763 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.333C>T;CSQ_HGVSp=NP_004371.2:p.Asn111%3D;CSQ_HGVSg=16:g.3900763G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95044;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=87;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.00281062;CSQ_gnomADe_AC=154;CSQ_gnomADe_AN=246074;CSQ_gnomADe_AF=0.000625828;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,23:152:0.15132:65:-100:0.0952:1,11,1,5,2,3,26,58,16,23,7,22:100:100 +16 3900826 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/30;CSQ_INTRON=.;CSQ_Feature=NM_001079846.1;CSQ_HGVSc=NM_001079846.1:c.270C>T;CSQ_HGVSp=NP_001073315.1:p.Ser90%3D;CSQ_HGVSg=16:g.3900826G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=246106;CSQ_gnomADe_AF=1.62532e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52113793&COSV52113793;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.40;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.81 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,8:137:0.05839:65:-100:0.1438:2,5,1,0,0,0,32,48,16,19,7,15:91.696:100 +16 3900826 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=CREBBP;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/31;CSQ_INTRON=.;CSQ_Feature=NM_004380.3;CSQ_HGVSc=NM_004380.3:c.270C>T;CSQ_HGVSp=NP_004371.2:p.Ser90%3D;CSQ_HGVSg=16:g.3900826G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=4;CSQ_gnomADe_AN=246106;CSQ_gnomADe_AF=1.62532e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52113793&COSV52113793;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.40;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.81 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,8:137:0.05839:65:-100:0.1438:2,5,1,0,0,0,32,48,16,19,7,15:91.696:100 +16 9916204 . C G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=GRIN2A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/13;CSQ_INTRON=.;CSQ_Feature=NM_001134407.3;CSQ_HGVSc=NM_001134407.3:c.2085G>C;CSQ_HGVSp=NP_001127879.1:p.Arg695%3D;CSQ_HGVSg=16:g.9916204C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129192;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Landau-Kleffner_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=10239;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.331466;CSQ_gnomADe_AC=63013;CSQ_gnomADe_AN=246044;CSQ_gnomADe_AF=0.256105;CSQ_gnomADe_Hom=9073;CSQ_COSMICcMuts=COSV58033242&COSV58033242&COSV58033242&COSV58033242&COSV58033242&COSV58033242;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GRIN2A:R695R;CSQ_CADD_PHRED=11.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,9:122:0.07377:65:-100:0.1286:2,3,0,0,2,2,13,45,12,19,11,22:99.564:100 +16 9934799 . G T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=GRIN2A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/13;CSQ_INTRON=.;CSQ_Feature=NM_001134407.3;CSQ_HGVSc=NM_001134407.3:c.1491C>A;CSQ_HGVSp=NP_001127879.1:p.Ile497%3D;CSQ_HGVSg=16:g.9934799G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58022441&COSV58022441&COSV58022441&COSV58022441&COSV58022441&COSV58022441;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.46;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,8:104:0.07692:65:-100:0.1405:2,4,0,0,0,2,16,37,7,13,8,23:83.785:100 +16 9943666 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=GRIN2A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/13;CSQ_INTRON=.;CSQ_Feature=NM_001134407.3;CSQ_HGVSc=NM_001134407.3:c.1275G>A;CSQ_HGVSp=NP_001127879.1:p.Leu425%3D;CSQ_HGVSg=16:g.9943666C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=129190;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Landau-Kleffner_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=8605;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.278605;CSQ_gnomADe_AC=61353;CSQ_gnomADe_AN=246114;CSQ_gnomADe_AF=0.249287;CSQ_gnomADe_Hom=8223;CSQ_COSMICcMuts=COSV58020811&COSV58020811&COSV58020811&COSV58020811&COSV58020811&COSV58020811;CSQ_COSMICncMuts=COSV58020811;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GRIN2A:L425L;CSQ_CADD_PHRED=10.97 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,18:153:0.11765:65:-100:0.1307:3,6,3,4,1,1,19,60,12,32,9,21:100:100 +16 11346008 . A C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=SOCS1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_003745.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=16:g.11346008A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7290;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.235999;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,59:129:0.45736:65:-100:0.1677:6,19,4,9,6,15,15,49,11,21,14,19:100:100 +16 11347311 . T C 100 PASS DP=139;CSQ_Allele=C;CSQ_SYMBOL=SOCS1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_003745.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=16:g.11347311T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30308;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.978435;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.413 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,139:139:1:65:-100:0.1032:20,53,16,23,7,20,20,53,16,23,7,20:100:100 +16 11350811 . CTG C 100 PASS DP=125;CSQ_Allele=-;CSQ_SYMBOL=SOCS1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_003745.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=16:g.11350812_11350813del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7342;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.237759;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,39:125:0.312:65:-100:0:7,13,3,3,7,6,21,42,11,21,17,13:100:100 +16 11352793 . G C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=SOCS1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_003745.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=16:g.11352793G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28911;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.933697;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.308 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,133:133:1:65:-100:0.1364:18,46,13,26,9,21,18,46,13,26,9,21:100:100 +16 14041958 . T C 100 PASS DP=144;CSQ_Allele=C;CSQ_SYMBOL=ERCC4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_005236.3;CSQ_HGVSc=NM_005236.3:c.2505T>C;CSQ_HGVSp=NP_005227.1:p.Ser835%3D;CSQ_HGVSg=16:g.14041958T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=129007;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_F&XFE_progeroid_syndrome&Fanconi_anemia_complementation_group_Q&Cockayne_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=7520;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.243255;CSQ_gnomADe_AC=67033;CSQ_gnomADe_AN=246012;CSQ_gnomADe_AF=0.272479;CSQ_gnomADe_Hom=9398;CSQ_COSMICcMuts=COSV61310532;CSQ_COSMICncMuts=COSV61310532;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC4:S835S;CSQ_CADD_PHRED=1.324 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,19:144:0.13194:65:-100:0.1628:3,5,1,3,1,6,19,51,5,32,8,29:100:100 +16 23641142 . C G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=PALB2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/13;CSQ_INTRON=.;CSQ_Feature=NM_024675.4;CSQ_HGVSc=NM_024675.4:c.2333G>C;CSQ_HGVSp=NP_078951.2:p.Ser778Thr;CSQ_HGVSg=16:g.23641142C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.051;CSQ_Mastermind_MMID3=PALB2:S778T;CSQ_CADD_PHRED=6.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,10:167:0.05988:65:-100:0.1566:4,5,0,0,0,1,26,68,11,30,11,21:100:100 +16 23647038 . C T 100 PASS DP=143;CSQ_Allele=T;CSQ_SYMBOL=PALB2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/13;CSQ_INTRON=.;CSQ_Feature=NM_024675.4;CSQ_HGVSc=NM_024675.4:c.829G>A;CSQ_HGVSp=NP_078951.2:p.Asp277Asn;CSQ_HGVSg=16:g.23647038C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=186811;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(5)&Likely_benign(1);CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Fanconi_anemia_complementation_group_N&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_provided;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=9.68804e-05;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=1.2185e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55167240;CSQ_COSMICncMuts=COSV55167240&COSV55167240;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=0.006;CSQ_Mastermind_MMID3=PALB2:D277N;CSQ_CADD_PHRED=0.214 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,12:143:0.08392:65:-100:0.1637:1,7,1,2,0,1,26,49,12,19,14,23:100:100 +16 23647191 . T A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=PALB2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/13;CSQ_INTRON=.;CSQ_Feature=NM_024675.4;CSQ_HGVSc=NM_024675.4:c.676A>T;CSQ_HGVSp=NP_078951.2:p.Thr226Ser;CSQ_HGVSg=16:g.23647191T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=0.014;CSQ_Mastermind_MMID3=PALB2:T226S;CSQ_CADD_PHRED=1.133 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,8:145:0.05517:65:-100:0.1317:1,2,1,2,1,1,24,53,10,26,13,19:84.377:100 +16 30133210 . G A 100 PASS DP=180;CSQ_Allele=A;CSQ_SYMBOL=MAPK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_001040056.3;CSQ_HGVSc=NM_001040056.3:c.288C>T;CSQ_HGVSp=NP_001035145.1:p.Arg96%3D;CSQ_HGVSg=16:g.30133210G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497;CSQ_COSMICncMuts=COSV53771497&COSV53771497;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAPK3:R96R;CSQ_CADD_PHRED=13.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,20:180:0.11111:65:-100:0.1262:3,8,3,2,0,4,38,62,15,28,14,23:100:100 +16 30133210 . G A 100 PASS DP=180;CSQ_Allele=A;CSQ_SYMBOL=MAPK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_001109891.2;CSQ_HGVSc=NM_001109891.2:c.288C>T;CSQ_HGVSp=NP_001103361.1:p.Arg96%3D;CSQ_HGVSg=16:g.30133210G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497;CSQ_COSMICncMuts=COSV53771497&COSV53771497;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAPK3:R96R;CSQ_CADD_PHRED=13.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,20:180:0.11111:65:-100:0.1262:3,8,3,2,0,4,38,62,15,28,14,23:100:100 +16 30133210 . G A 100 PASS DP=180;CSQ_Allele=A;CSQ_SYMBOL=MAPK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/9;CSQ_INTRON=.;CSQ_Feature=NM_002746.3;CSQ_HGVSc=NM_002746.3:c.288C>T;CSQ_HGVSp=NP_002737.2:p.Arg96%3D;CSQ_HGVSg=16:g.30133210G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497&COSV53771497;CSQ_COSMICncMuts=COSV53771497&COSV53771497;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAPK3:R96R;CSQ_CADD_PHRED=13.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:160,20:180:0.11111:65:-100:0.1262:3,8,3,2,0,4,38,62,15,28,14,23:100:100 +16 30134375 . C T 100 PASS DP=64;CSQ_Allele=T;CSQ_SYMBOL=MAPK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001040056.3;CSQ_HGVSc=NM_001040056.3:c.156G>A;CSQ_HGVSp=NP_001035145.1:p.Ala52%3D;CSQ_HGVSg=16:g.30134375C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.08 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,7:64:0.10938:65:-100:0.2727:2,0,1,1,2,1,16,19,6,6,10,7:100:100 +16 30134375 . C T 100 PASS DP=64;CSQ_Allele=T;CSQ_SYMBOL=MAPK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_001109891.2;CSQ_HGVSc=NM_001109891.2:c.156G>A;CSQ_HGVSp=NP_001103361.1:p.Ala52%3D;CSQ_HGVSg=16:g.30134375C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.08 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,7:64:0.10938:65:-100:0.2727:2,0,1,1,2,1,16,19,6,6,10,7:100:100 +16 30134375 . C T 100 PASS DP=64;CSQ_Allele=T;CSQ_SYMBOL=MAPK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_002746.3;CSQ_HGVSc=NM_002746.3:c.156G>A;CSQ_HGVSp=NP_002737.2:p.Ala52%3D;CSQ_HGVSg=16:g.30134375C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.08 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,7:64:0.10938:65:-100:0.2727:2,0,1,1,2,1,16,19,6,6,10,7:100:100 +16 31144657 . G A 100 PASS DP=158;CSQ_Allele=A;CSQ_SYMBOL=PRSS8;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_002773.5;CSQ_HGVSc=NM_002773.5:c.156C>T;CSQ_HGVSp=NP_002764.1:p.Val52%3D;CSQ_HGVSg=16:g.31144657G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=19;CSQ_gnomADe_AN=246122;CSQ_gnomADe_AF=7.71975e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54896774&COSV54896774;CSQ_COSMICncMuts=COSV54896774&COSV54896774&COSV54896774&COSV54896774&COSV54896774&COSV54896774&COSV54896774&COSV54896774;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.597 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,11:158:0.06962:65:-100:0.1596:1,4,1,4,0,1,21,45,16,38,17,21:100:100 +16 50827518 . C T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=CYLD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/18;CSQ_INTRON=.;CSQ_Feature=NM_001042355.2;CSQ_HGVSc=NM_001042355.2:c.2403C>T;CSQ_HGVSp=NP_001035814.1:p.Asp801%3D;CSQ_HGVSg=16:g.50827518C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=319508;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cylindromatosis&Familial_multiple_trichoepitheliomata&Brooke-Spiegler_syndrome¬_provided;CSQ_gnomADg_AC=1608;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0519313;CSQ_gnomADe_AC=21002;CSQ_gnomADe_AN=246182;CSQ_gnomADe_AF=0.0853109;CSQ_gnomADe_Hom=1472;CSQ_COSMICcMuts=COSV61093245&COSV61093245&COSV61093245&COSV61093245&COSV61093245&COSV61093245&COSV61093245&COSV61093245;CSQ_COSMICncMuts=COSV61093245&COSV61093245;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CYLD:D579D&CYLD:D791D&CYLD:D801D&CYLD:D804D;CSQ_CADD_PHRED=4.470 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,26:138:0.18841:65:-100:0.1154:2,10,1,8,3,2,21,56,9,23,15,14:100:100 +16 50827518 . C T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=CYLD;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/20;CSQ_INTRON=.;CSQ_Feature=NM_015247.3;CSQ_HGVSc=NM_015247.3:c.2412C>T;CSQ_HGVSp=NP_056062.1:p.Asp804%3D;CSQ_HGVSg=16:g.50827518C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=319508;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cylindromatosis&Familial_multiple_trichoepitheliomata&Brooke-Spiegler_syndrome¬_provided;CSQ_gnomADg_AC=1608;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0519313;CSQ_gnomADe_AC=21002;CSQ_gnomADe_AN=246182;CSQ_gnomADe_AF=0.0853109;CSQ_gnomADe_Hom=1472;CSQ_COSMICcMuts=COSV61093245&COSV61093245&COSV61093245&COSV61093245&COSV61093245&COSV61093245&COSV61093245&COSV61093245;CSQ_COSMICncMuts=COSV61093245&COSV61093245;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CYLD:D579D&CYLD:D791D&CYLD:D801D&CYLD:D804D;CSQ_CADD_PHRED=4.470 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,26:138:0.18841:65:-100:0.1154:2,10,1,8,3,2,21,56,9,23,15,14:100:100 +16 56782276 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=NUP93;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/22;CSQ_INTRON=.;CSQ_Feature=NM_014669.5;CSQ_HGVSc=NM_014669.5:c.117G>A;CSQ_HGVSp=NP_055484.3:p.Ala39%3D;CSQ_HGVSg=16:g.56782276G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=778504;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=70;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00226084;CSQ_gnomADe_AC=133;CSQ_gnomADe_AN=245708;CSQ_gnomADe_AF=0.000541293;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,15:129:0.11628:65:-100:0.0786:6,4,1,1,1,2,27,36,9,25,14,18:100:100 +16 56855496 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=NUP93;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/20;CSQ_INTRON=.;CSQ_Feature=NM_001242795.2;CSQ_HGVSc=NM_001242795.2:c.276C>G;CSQ_HGVSp=NP_001229724.1:p.Leu92%3D;CSQ_HGVSg=16:g.56855496C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1266081;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Nephrotic_syndrome&_type_12¬_provided;CSQ_gnomADg_AC=25567;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.826074;CSQ_gnomADe_AC=204792;CSQ_gnomADe_AN=246164;CSQ_gnomADe_AF=0.831933;CSQ_gnomADe_Hom=85482;CSQ_COSMICcMuts=COSV57430462&COSV57430462&COSV57430462&COSV57430462;CSQ_COSMICncMuts=COSV57430462&COSV57430462;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NUP93:L215L&NUP93:L92L;CSQ_CADD_PHRED=12.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,124:132:0.93939:65:-100:0.1316:19,54,9,15,11,16,19,57,10,15,13,18:100:100 +16 56855496 . C G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=NUP93;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/22;CSQ_INTRON=.;CSQ_Feature=NM_014669.5;CSQ_HGVSc=NM_014669.5:c.645C>G;CSQ_HGVSp=NP_055484.3:p.Leu215%3D;CSQ_HGVSg=16:g.56855496C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1266081;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Nephrotic_syndrome&_type_12¬_provided;CSQ_gnomADg_AC=25567;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.826074;CSQ_gnomADe_AC=204792;CSQ_gnomADe_AN=246164;CSQ_gnomADe_AF=0.831933;CSQ_gnomADe_Hom=85482;CSQ_COSMICcMuts=COSV57430462&COSV57430462&COSV57430462&COSV57430462;CSQ_COSMICncMuts=COSV57430462&COSV57430462;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NUP93:L215L&NUP93:L92L;CSQ_CADD_PHRED=12.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,124:132:0.93939:65:-100:0.1316:19,54,9,15,11,16,19,57,10,15,13,18:100:100 +16 56873495 . C T 100 PASS DP=155;CSQ_Allele=T;CSQ_SYMBOL=NUP93;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/20;CSQ_INTRON=.;CSQ_Feature=NM_001242795.2;CSQ_HGVSc=NM_001242795.2:c.1830C>T;CSQ_HGVSp=NP_001229724.1:p.Ala610%3D;CSQ_HGVSg=16:g.56873495C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1264949;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5359;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.173475;CSQ_gnomADe_AC=44386;CSQ_gnomADe_AN=246040;CSQ_gnomADe_AF=0.180402;CSQ_gnomADe_Hom=4396;CSQ_COSMICcMuts=COSV57429227&COSV57429227&COSV57429227&COSV57429227;CSQ_COSMICncMuts=COSV57429227&COSV57429227;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NUP93:A610A&NUP93:A733A;CSQ_CADD_PHRED=14.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,51:155:0.32903:65:-100:0.1622:10,12,6,9,5,9,21,40,26,27,16,25:100:100 +16 56873495 . C T 100 PASS DP=155;CSQ_Allele=T;CSQ_SYMBOL=NUP93;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/22;CSQ_INTRON=.;CSQ_Feature=NM_014669.5;CSQ_HGVSc=NM_014669.5:c.2199C>T;CSQ_HGVSp=NP_055484.3:p.Ala733%3D;CSQ_HGVSg=16:g.56873495C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1264949;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5359;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.173475;CSQ_gnomADe_AC=44386;CSQ_gnomADe_AN=246040;CSQ_gnomADe_AF=0.180402;CSQ_gnomADe_Hom=4396;CSQ_COSMICcMuts=COSV57429227&COSV57429227&COSV57429227&COSV57429227;CSQ_COSMICncMuts=COSV57429227&COSV57429227;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NUP93:A610A&NUP93:A733A;CSQ_CADD_PHRED=14.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,51:155:0.32903:65:-100:0.1622:10,12,6,9,5,9,21,40,26,27,16,25:100:100 +16 67100635 . A G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=CBFB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_001755.3;CSQ_HGVSc=NM_001755.3:c.333A>G;CSQ_HGVSp=NP_001746.1:p.Lys111%3D;CSQ_HGVSg=16:g.67100635A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=9.68429e-05;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=2.03084e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1325:1,5,0,2,1,4,18,48,10,23,8,24:100:100 +16 67100635 . A G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=CBFB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_022845.3;CSQ_HGVSc=NM_022845.3:c.333A>G;CSQ_HGVSp=NP_074036.1:p.Lys111%3D;CSQ_HGVSg=16:g.67100635A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=9.68429e-05;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=2.03084e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,13:131:0.09924:65:-100:0.1325:1,5,0,2,1,4,18,48,10,23,8,24:100:100 +16 67662319 . CT C 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=CTCF;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_001191022.2;CSQ_HGVSc=NM_001191022.2:c.583del;CSQ_HGVSp=NP_001177951.1:p.Tyr195ThrfsTer61;CSQ_HGVSg=16:g.67662321del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50505133&COSV50505133;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,11:157:0.07006:65:-100:0:3,4,0,2,0,2,28,60,14,28,9,18:100:100 +16 67662319 . CT C 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=CTCF;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_006565.4;CSQ_HGVSc=NM_006565.4:c.1567del;CSQ_HGVSp=NP_006556.1:p.Tyr523ThrfsTer61;CSQ_HGVSg=16:g.67662321del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50505133&COSV50505133;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,11:157:0.07006:65:-100:0:3,4,0,2,0,2,28,60,14,28,9,18:100:100 +16 68835765 . TG T 100 PASS DP=181;CSQ_Allele=-;CSQ_SYMBOL=CDH1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/16;CSQ_INTRON=.;CSQ_Feature=NM_004360.5;CSQ_HGVSc=NM_004360.5:c.360del;CSQ_HGVSp=NP_004351.1:p.His121ThrfsTer94;CSQ_HGVSg=16:g.68835769del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=818202;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_diffuse_gastric_adenocarcinoma;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55727175&COSV55727175;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,10:181:0.05525:65:-100:0:4,1,1,1,0,3,31,57,21,28,18,26:100:100 +16 68845687 . C G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=CDH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/16;CSQ_INTRON=.;CSQ_Feature=NM_004360.5;CSQ_HGVSc=NM_004360.5:c.933C>G;CSQ_HGVSp=NP_004351.1:p.Leu311%3D;CSQ_HGVSg=16:g.68845687C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=142633;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Malignant_tumor_of_breast&Hereditary_diffuse_gastric_adenocarcinoma&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=281;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00907213;CSQ_gnomADe_AC=566;CSQ_gnomADe_AN=246226;CSQ_gnomADe_AF=0.0022987;CSQ_gnomADe_Hom=9;CSQ_COSMICcMuts=COSV104558683&COSV104558683;CSQ_COSMICncMuts=COSV104558683&COSV104558683&COSV104558683&COSV104558683&COSV104558683;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDH1:5UTR&CDH1:L311L;CSQ_CADD_PHRED=3.774 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,15:142:0.10563:65:-100:0.1341:2,7,0,0,2,4,30,43,17,22,7,23:100:100 +16 68857441 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=CDH1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/16;CSQ_INTRON=.;CSQ_Feature=NM_004360.5;CSQ_HGVSc=NM_004360.5:c.2076T>C;CSQ_HGVSp=NP_004351.1:p.Ala692%3D;CSQ_HGVSg=16:g.68857441T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=142770;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Malignant_tumor_of_prostate&Hereditary_diffuse_gastric_adenocarcinoma&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Blepharocheilodontic_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=21497;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.696146;CSQ_gnomADe_AC=159955;CSQ_gnomADe_AN=246086;CSQ_gnomADe_AF=0.649996;CSQ_gnomADe_Hom=52683;CSQ_COSMICcMuts=COSV55728161&COSV55728161;CSQ_COSMICncMuts=COSV55728161&COSV55728161;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDH1:A176A&CDH1:A37A&CDH1:A631A&CDH1:A692A;CSQ_CADD_PHRED=5.661 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,94:125:0.752:65:-100:0.1135:11,37,8,16,12,10,14,52,11,18,17,13:100:100 +16 72821730 . C A 100 PASS DP=116;CSQ_Allele=A;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.10445G>T;CSQ_HGVSp=NP_008816.3:p.Ser3482Ile;CSQ_HGVSg=16:g.72821730C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.000356587;CSQ_gnomADe_AC=59;CSQ_gnomADe_AN=242378;CSQ_gnomADe_AF=0.000243421;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV51716794&COSV51716794;CSQ_COSMICncMuts=COSV51716794&COSV51716794&COSV51716794;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=0.328;CSQ_Mastermind_MMID3=ZFHX3:S3482I;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,17:116:0.14655:65:-100:0.1212:3,4,3,1,6,0,29,34,14,12,20,7:100:100 +16 72827758 . T C 100 PASS DP=166;CSQ_Allele=C;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.8823A>G;CSQ_HGVSp=NP_008816.3:p.Gly2941%3D;CSQ_HGVSg=16:g.72827758T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27753;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.896878;CSQ_gnomADe_AC=215585;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.875437;CSQ_gnomADe_Hom=94776;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZFHX3:G2027G&ZFHX3:G2941G;CSQ_CADD_PHRED=11.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:19,139:166:0.83735:65:-100:0.0978:16,51,15,24,10,23,20,64,17,26,12,27:100:100 +16 72827758 . TCC CCT 100 PASS DP=164;CSQ_Allele=CCT;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.8821_8823delinsAGG;CSQ_HGVSp=NP_008816.3:p.Gly2941Arg;CSQ_HGVSg=16:g.72827758_72827760delinsCCT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZFHX3:G2941R;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,8:164:0.04878:65:-46.1351:0:0,5,1,1,0,1,40,128,34,52,24,54:92.345:100 +16 72829426 . C T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.7155G>A;CSQ_HGVSp=NP_008816.3:p.Pro2385%3D;CSQ_HGVSg=16:g.72829426C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=386;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.0124871;CSQ_gnomADe_AC=6136;CSQ_gnomADe_AN=246234;CSQ_gnomADe_AF=0.0249194;CSQ_gnomADe_Hom=223;CSQ_COSMICcMuts=COSV51720561&COSV51720561;CSQ_COSMICncMuts=COSV51720561;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZFHX3:P1471P&ZFHX3:P2385P;CSQ_CADD_PHRED=4.619 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,16:145:0.11034:65:-100:0.1317:2,4,1,3,0,6,23,40,10,30,12,30:100:100 +16 72832135 . T A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.4446A>T;CSQ_HGVSp=NP_008816.3:p.Ala1482%3D;CSQ_HGVSg=16:g.72832135T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1328725;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=26837;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.867276;CSQ_gnomADe_AC=205261;CSQ_gnomADe_AN=246170;CSQ_gnomADe_AF=0.833818;CSQ_gnomADe_Hom=86144;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZFHX3:A1482A&ZFHX3:A568A;CSQ_CADD_PHRED=3.668 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,117:128:0.91406:65:-100:0.1172:20,46,5,28,5,13,22,48,5,31,6,16:100:100 +16 72991357 . G A 100 PASS DP=131;CSQ_Allele=A;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.2688C>T;CSQ_HGVSp=NP_008816.3:p.Ala896%3D;CSQ_HGVSg=16:g.72991357G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000549131;CSQ_gnomADe_AC=100;CSQ_gnomADe_AN=244908;CSQ_gnomADe_AF=0.000408317;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.814 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,15:131:0.1145:65:-99.3855:0.1656:2,2,1,2,2,6,19,46,15,18,9,24:100:100 +16 72991660 . C G 100 PASS DP=83;CSQ_Allele=G;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.2385G>C;CSQ_HGVSp=NP_008816.3:p.Pro795%3D;CSQ_HGVSg=16:g.72991660C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1240447;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=25898;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.839754;CSQ_gnomADe_AC=205229;CSQ_gnomADe_AN=243866;CSQ_gnomADe_AF=0.841565;CSQ_gnomADe_Hom=87199;CSQ_COSMICcMuts=COSV51707056&COSV51707056;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZFHX3:5UTR&ZFHX3:5UTRint&ZFHX3:5UTRinta&ZFHX3:P795P;CSQ_CADD_PHRED=9.684 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,76:83:0.91566:65:-100:0.1782:21,19,6,10,9,11,22,21,8,10,10,12:100:100 +16 72992221 . G A 100 PASS DP=166;CSQ_Allele=A;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.1824C>T;CSQ_HGVSp=NP_008816.3:p.Ser608%3D;CSQ_HGVSg=16:g.72992221G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1333077;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=5664;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.183289;CSQ_gnomADe_AC=43706;CSQ_gnomADe_AN=246184;CSQ_gnomADe_AF=0.177534;CSQ_gnomADe_Hom=5088;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZFHX3:5UTRint;CSQ_CADD_PHRED=10.43 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,29:166:0.1747:65:-100:0.1823:7,8,4,3,1,6,27,47,10,31,18,33:100:100 +16 72992667 . C G 100 PASS DP=150;CSQ_Allele=G;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.1378G>C;CSQ_HGVSp=NP_008816.3:p.Glu460Gln;CSQ_HGVSg=16:g.72992667C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=480;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0155119;CSQ_gnomADe_AC=6742;CSQ_gnomADe_AN=246016;CSQ_gnomADe_AF=0.0274047;CSQ_gnomADe_Hom=289;CSQ_COSMICcMuts=COSV51712507&COSV51712507;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.220;CSQ_Mastermind_MMID3=ZFHX3:5UTR&ZFHX3:5UTRint&ZFHX3:5UTRinta&ZFHX3:E460Q;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1667:1,4,3,3,0,3,22,40,22,21,12,33:100:100 +16 72992910 . G C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.1135C>G;CSQ_HGVSp=NP_008816.3:p.Leu379Val;CSQ_HGVSg=16:g.72992910G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=172;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.00556058;CSQ_gnomADe_AC=832;CSQ_gnomADe_AN=244294;CSQ_gnomADe_AF=0.00340573;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=0.344;CSQ_Mastermind_MMID3=ZFHX3:5UTR&ZFHX3:5UTRint&ZFHX3:5UTRinta&ZFHX3:L379V;CSQ_CADD_PHRED=23.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,13:136:0.09559:65:-100:0.1553:2,6,1,1,0,3,22,53,7,22,11,21:100:100 +16 72993703 . G A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.342C>T;CSQ_HGVSp=NP_008816.3:p.Ser114%3D;CSQ_HGVSg=16:g.72993703G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=6.46371e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=231044;CSQ_gnomADe_AF=9.522e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV51739178&COSV51739178;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.566 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,11:164:0.06707:65:-100:0.1546:1,5,2,1,1,1,27,56,17,27,12,25:100:100 +16 72993710 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.335G>A;CSQ_HGVSp=NP_008816.3:p.Ser112Asn;CSQ_HGVSg=16:g.72993710C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51710248&COSV51710248;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.272;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,19:159:0.1195:65:-100:0.1675:5,4,1,5,1,3,31,51,19,24,11,23:100:100 +16 72993831 . A C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=ZFHX3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_006885.4;CSQ_HGVSc=NM_006885.4:c.214T>G;CSQ_HGVSp=NP_008816.3:p.Ser72Ala;CSQ_HGVSg=16:g.72993831A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15093;CSQ_gnomADg_AN=30782;CSQ_gnomADg_AF=0.490319;CSQ_gnomADe_AC=85853;CSQ_gnomADe_AN=221932;CSQ_gnomADe_AF=0.386844;CSQ_gnomADe_Hom=18119;CSQ_COSMICcMuts=COSV51707067&COSV51707067;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.210;CSQ_Mastermind_MMID3=ZFHX3:5UTR&ZFHX3:5UTRint&ZFHX3:5UTRinta&ZFHX3:S72A;CSQ_CADD_PHRED=14.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,85:153:0.55556:65:-100:0.1404:11,35,7,18,3,11,19,58,14,26,11,25:100:100 +16 81819649 . AAG A 100 PASS DP=128;CSQ_Allele=-;CSQ_SYMBOL=PLCG2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.60_61del;CSQ_HGVSp=NP_002652.2:p.Arg20SerfsTer39;CSQ_HGVSg=16:g.81819654_81819655del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63874968;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,5:128:0.03906:65:-98.0466:0:1,1,1,0,0,2,21,41,14,19,12,20:61.24:100 +16 81819694 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=PLCG2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.100C>T;CSQ_HGVSp=NP_002652.2:p.Arg34Cys;CSQ_HGVSg=16:g.81819694C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246234;CSQ_gnomADe_AF=8.12236e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV63867727;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=0.248;CSQ_Mastermind_MMID3=PLCG2:R34C;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,13:151:0.08609:65:-100:0.1221:2,8,1,2,0,0,23,54,14,21,18,21:100:100 +16 81819768 . T C 100 PASS DP=137;CSQ_Allele=C;CSQ_SYMBOL=PLCG2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.174T>C;CSQ_HGVSp=NP_002652.2:p.Ala58%3D;CSQ_HGVSg=16:g.81819768T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=403316;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cold_autoinflammatory_syndrome_3&Autoinflammation-PLCG2-associated_antibody_deficiency-immune_dysregulation¬_specified¬_provided;CSQ_gnomADg_AC=21157;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.68456;CSQ_gnomADe_AC=178486;CSQ_gnomADe_AN=245426;CSQ_gnomADe_AF=0.72725;CSQ_gnomADe_Hom=65420;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLCG2:A58A;CSQ_CADD_PHRED=10.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,108:137:0.78832:65:-100:0.1438:20,39,5,16,7,21,25,48,9,22,8,25:100:100 +16 81888152 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=PLCG2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.297A>G;CSQ_HGVSp=NP_002652.2:p.Leu99%3D;CSQ_HGVSg=16:g.81888152A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=403317;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cold_autoinflammatory_syndrome_3¬_specified;CSQ_gnomADg_AC=8195;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.265176;CSQ_gnomADe_AC=68284;CSQ_gnomADe_AN=246060;CSQ_gnomADe_AF=0.27751;CSQ_gnomADe_Hom=10135;CSQ_COSMICcMuts=COSV63870246;CSQ_COSMICncMuts=COSV63870246;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLCG2:L99L;CSQ_CADD_PHRED=0.620 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,18:142:0.12676:65:-100:0.1235:5,6,0,1,3,3,29,50,11,17,12,23:100:100 +16 81902879 . C G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=PLCG2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.540C>G;CSQ_HGVSp=NP_002652.2:p.Ala180%3D;CSQ_HGVSg=16:g.81902879C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=540126;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cold_autoinflammatory_syndrome_3&Autoinflammation-PLCG2-associated_antibody_deficiency-immune_dysregulation¬_specified¬_provided;CSQ_gnomADg_AC=189;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.00610426;CSQ_gnomADe_AC=1477;CSQ_gnomADe_AN=246202;CSQ_gnomADe_AF=0.00599914;CSQ_gnomADe_Hom=7;CSQ_COSMICcMuts=COSV63869564;CSQ_COSMICncMuts=COSV63869564;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,11:129:0.08527:65:-100:0.1513:0,4,0,3,1,3,27,39,9,19,14,21:100:100 +16 81922781 . A T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=PLCG2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.770A>T;CSQ_HGVSp=NP_002652.2:p.His257Leu;CSQ_HGVSg=16:g.81922781A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=440155;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cold_autoinflammatory_syndrome_3¬_specified¬_provided;CSQ_gnomADg_AC=807;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0261182;CSQ_gnomADe_AC=6168;CSQ_gnomADe_AN=233186;CSQ_gnomADe_AF=0.026451;CSQ_gnomADe_Hom=129;CSQ_COSMICcMuts=COSV63877404;CSQ_COSMICncMuts=COSV63877404&COSV63877404;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=0.044;CSQ_Mastermind_MMID3=PLCG2:H257L;CSQ_CADD_PHRED=7.711 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,11:124:0.08871:65:-100:0.1389:2,6,2,0,1,0,26,48,12,14,8,16:100:100 +16 81929488 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=PLCG2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.1149C>T;CSQ_HGVSp=NP_002652.2:p.Asp383%3D;CSQ_HGVSg=16:g.81929488C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=403320;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cold_autoinflammatory_syndrome_3&Autoinflammation-PLCG2-associated_antibody_deficiency-immune_dysregulation¬_specified¬_provided;CSQ_gnomADg_AC=10805;CSQ_gnomADg_AN=30868;CSQ_gnomADg_AF=0.350039;CSQ_gnomADe_AC=105525;CSQ_gnomADe_AN=246194;CSQ_gnomADe_AF=0.428625;CSQ_gnomADe_Hom=25381;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLCG2:D383D;CSQ_CADD_PHRED=0.126 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,26:141:0.1844:65:-100:0.1455:3,7,3,1,1,11,31,41,12,17,16,24:100:100 +16 81941319 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=PLCG2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.1497C>T;CSQ_HGVSp=NP_002652.2:p.Ala499%3D;CSQ_HGVSg=16:g.81941319C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=403322;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cold_autoinflammatory_syndrome_3&Autoinflammation-PLCG2-associated_antibody_deficiency-immune_dysregulation¬_specified¬_provided;CSQ_gnomADg_AC=22566;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.731333;CSQ_gnomADe_AC=194042;CSQ_gnomADe_AN=246092;CSQ_gnomADe_AF=0.788494;CSQ_gnomADe_Hom=77437;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLCG2:A499A;CSQ_CADD_PHRED=0.069 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,108:144:0.75:65:-100:0.1273:19,40,11,18,7,13,30,52,16,20,9,17:100:100 +16 81971403 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=PLCG2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=28/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.3093T>C;CSQ_HGVSp=NP_002652.2:p.Asn1031%3D;CSQ_HGVSg=16:g.81971403T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=403324;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cold_autoinflammatory_syndrome_3&Autoinflammation-PLCG2-associated_antibody_deficiency-immune_dysregulation¬_specified¬_provided;CSQ_gnomADg_AC=12428;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.402253;CSQ_gnomADe_AC=109528;CSQ_gnomADe_AN=245908;CSQ_gnomADe_AF=0.445402;CSQ_gnomADe_Hom=26460;CSQ_COSMICcMuts=COSV63872588;CSQ_COSMICncMuts=COSV63872588&COSV63872588&COSV63872588;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PLCG2:N1031N;CSQ_CADD_PHRED=8.727 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,48:130:0.36923:65:-100:0.1096:11,11,6,12,3,5,28,33,13,26,8,22:100:100 +16 81990455 . C A 100 PASS DP=157;CSQ_Allele=A;CSQ_SYMBOL=PLCG2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=32/33;CSQ_INTRON=.;CSQ_Feature=NM_002661.5;CSQ_HGVSc=NM_002661.5:c.3726C>A;CSQ_HGVSp=NP_002652.2:p.Leu1242%3D;CSQ_HGVSg=16:g.81990455C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=618327;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Familial_cold_autoinflammatory_syndrome_3&Autoinflammation-PLCG2-associated_antibody_deficiency-immune_dysregulation¬_provided;CSQ_gnomADg_AC=275;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00887956;CSQ_gnomADe_AC=524;CSQ_gnomADe_AN=245826;CSQ_gnomADe_AF=0.00213159;CSQ_gnomADe_Hom=7;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.261 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,9:157:0.05732:65:-100:0.1278:2,1,2,2,0,2,24,53,9,33,9,29:100:100 +16 89346133 . C T 100 PASS DP=86;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.6817G>A;CSQ_HGVSp=NP_001243112.1:p.Gly2273Ser;CSQ_HGVSg=16:g.89346133C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.007;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,7:86:0.0814:65:-100:0.165:1,3,1,1,1,0,22,17,13,16,11,7:89.002:100 +16 89346133 . C T 100 PASS DP=86;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.6817G>A;CSQ_HGVSp=NP_037407.4:p.Gly2273Ser;CSQ_HGVSg=16:g.89346133C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.007;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.032 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,7:86:0.0814:65:-100:0.165:1,3,1,1,1,0,22,17,13,16,11,7:89.002:100 +16 89346489 . T G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.6461A>C;CSQ_HGVSp=NP_001243112.1:p.Glu2154Ala;CSQ_HGVSg=16:g.89346489T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=237738;CSQ_gnomADe_AF=2.10316e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.070;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,10:137:0.07299:65:-96.6195:0.1941:1,5,1,1,1,1,26,42,13,22,17,17:100:100 +16 89346489 . T G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.6461A>C;CSQ_HGVSp=NP_037407.4:p.Glu2154Ala;CSQ_HGVSg=16:g.89346489T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=237738;CSQ_gnomADe_AF=2.10316e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=0.070;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,10:137:0.07299:65:-96.6195:0.1941:1,5,1,1,1,1,26,42,13,22,17,17:100:100 +16 89346883 . C G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.6067G>C;CSQ_HGVSp=NP_001243112.1:p.Ala2023Pro;CSQ_HGVSg=16:g.89346883C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380368;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1480;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.0479026;CSQ_gnomADe_AC=9261;CSQ_gnomADe_AN=201942;CSQ_gnomADe_AF=0.0458597;CSQ_gnomADe_Hom=332;CSQ_COSMICcMuts=COSV56354227&COSV56354227;CSQ_COSMICncMuts=COSV56354227;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=0.009;CSQ_Mastermind_MMID3=ANKRD11:A2023P;CSQ_CADD_PHRED=7.805 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,7:94:0.07447:65:-99.9461:0.1681:2,2,0,3,0,0,19,33,6,13,9,14:93.089:100 +16 89346883 . C G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.6067G>C;CSQ_HGVSp=NP_037407.4:p.Ala2023Pro;CSQ_HGVSg=16:g.89346883C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380368;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1480;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.0479026;CSQ_gnomADe_AC=9261;CSQ_gnomADe_AN=201942;CSQ_gnomADe_AF=0.0458597;CSQ_gnomADe_Hom=332;CSQ_COSMICcMuts=COSV56354227&COSV56354227;CSQ_COSMICncMuts=COSV56354227;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=0.009;CSQ_Mastermind_MMID3=ANKRD11:A2023P;CSQ_CADD_PHRED=7.805 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,7:94:0.07447:65:-99.9461:0.1681:2,2,0,3,0,0,19,33,6,13,9,14:93.089:100 +16 89346965 . G A 100 PASS DP=99;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.5985C>T;CSQ_HGVSp=NP_001243112.1:p.Cys1995%3D;CSQ_HGVSg=16:g.89346965G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.559 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,6:99:0.06061:65:-96.8868:0.1681:1,4,1,0,0,0,15,34,8,16,13,13:65.837:100 +16 89346965 . G A 100 PASS DP=99;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.5985C>T;CSQ_HGVSp=NP_037407.4:p.Cys1995%3D;CSQ_HGVSg=16:g.89346965G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.559 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,6:99:0.06061:65:-96.8868:0.1681:1,4,1,0,0,0,15,34,8,16,13,13:65.837:100 +16 89347720 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.5230C>T;CSQ_HGVSp=NP_001243112.1:p.His1744Tyr;CSQ_HGVSg=16:g.89347720G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=0.133;CSQ_Mastermind_MMID3=ANKRD11:H1744Y;CSQ_CADD_PHRED=17.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,8:154:0.05195:65:-100:0.1585:2,4,1,0,0,1,27,54,11,23,17,22:100:100 +16 89347720 . G A 100 PASS DP=154;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.5230C>T;CSQ_HGVSp=NP_037407.4:p.His1744Tyr;CSQ_HGVSg=16:g.89347720G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=0.133;CSQ_Mastermind_MMID3=ANKRD11:H1744Y;CSQ_CADD_PHRED=17.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,8:154:0.05195:65:-100:0.1585:2,4,1,0,0,1,27,54,11,23,17,22:100:100 +16 89347854 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.5096G>A;CSQ_HGVSp=NP_001243112.1:p.Arg1699Gln;CSQ_HGVSg=16:g.89347854C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245406;CSQ_gnomADe_AF=8.14976e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56355867&COSV56355867;CSQ_COSMICncMuts=COSV56355867;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=0.159;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,10:142:0.07042:65:-100:0.1394:0,6,1,2,0,1,19,49,15,23,14,22:100:100 +16 89347854 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.5096G>A;CSQ_HGVSp=NP_037407.4:p.Arg1699Gln;CSQ_HGVSg=16:g.89347854C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245406;CSQ_gnomADe_AF=8.14976e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56355867&COSV56355867;CSQ_COSMICncMuts=COSV56355867;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=0.159;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,10:142:0.07042:65:-100:0.1394:0,6,1,2,0,1,19,49,15,23,14,22:100:100 +16 89348018 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.4932G>A;CSQ_HGVSp=NP_001243112.1:p.Gly1644%3D;CSQ_HGVSg=16:g.89348018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380367;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1283;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.0415022;CSQ_gnomADe_AC=9944;CSQ_gnomADe_AN=246112;CSQ_gnomADe_AF=0.0404044;CSQ_gnomADe_Hom=369;CSQ_COSMICcMuts=COSV56357472&COSV56357472;CSQ_COSMICncMuts=COSV56357472;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD11:G1644G;CSQ_CADD_PHRED=0.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,8:146:0.05479:65:-100:0.1205:1,0,0,4,1,2,33,37,17,25,15,19:87.058:100 +16 89348018 . C T 100 PASS DP=146;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.4932G>A;CSQ_HGVSp=NP_037407.4:p.Gly1644%3D;CSQ_HGVSg=16:g.89348018C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380367;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1283;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.0415022;CSQ_gnomADe_AC=9944;CSQ_gnomADe_AN=246112;CSQ_gnomADe_AF=0.0404044;CSQ_gnomADe_Hom=369;CSQ_COSMICcMuts=COSV56357472&COSV56357472;CSQ_COSMICncMuts=COSV56357472;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD11:G1644G;CSQ_CADD_PHRED=0.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,8:146:0.05479:65:-100:0.1205:1,0,0,4,1,2,33,37,17,25,15,19:87.058:100 +16 89348062 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.4888G>A;CSQ_HGVSp=NP_001243112.1:p.Gly1630Arg;CSQ_HGVSg=16:g.89348062C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=3.23144e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246100;CSQ_gnomADe_AF=8.12678e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56358643&COSV56358643;CSQ_COSMICncMuts=COSV56358643;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.029;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.091 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.1019:1,4,3,0,2,4,28,37,17,22,11,26:100:100 +16 89348062 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.4888G>A;CSQ_HGVSp=NP_037407.4:p.Gly1630Arg;CSQ_HGVSg=16:g.89348062C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=3.23144e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246100;CSQ_gnomADe_AF=8.12678e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56358643&COSV56358643;CSQ_COSMICncMuts=COSV56358643;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.029;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.091 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,14:141:0.09929:65:-100:0.1019:1,4,3,0,2,4,28,37,17,22,11,26:100:100 +16 89348864 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.4086C>T;CSQ_HGVSp=NP_001243112.1:p.Asp1362%3D;CSQ_HGVSg=16:g.89348864G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56369467&COSV56369467;CSQ_COSMICncMuts=COSV56369467&COSV56369467&COSV56369467;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.461 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,9:120:0.075:65:-100:0.1946:4,1,0,3,1,0,19,39,8,25,13,16:90.439:100 +16 89348864 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.4086C>T;CSQ_HGVSp=NP_037407.4:p.Asp1362%3D;CSQ_HGVSg=16:g.89348864G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56369467&COSV56369467;CSQ_COSMICncMuts=COSV56369467&COSV56369467&COSV56369467;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.461 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,9:120:0.075:65:-100:0.1946:4,1,0,3,1,0,19,39,8,25,13,16:90.439:100 +16 89348934 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.4016G>A;CSQ_HGVSp=NP_001243112.1:p.Cys1339Tyr;CSQ_HGVSg=16:g.89348934C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56358653&COSV56358653;CSQ_COSMICncMuts=COSV56358653&COSV56358653&COSV56358653;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.038;CSQ_Mastermind_MMID3=ANKRD11:C1339Y;CSQ_CADD_PHRED=15.38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,10:131:0.07634:65:-100:0.1494:2,3,1,3,1,0,20,51,11,21,14,14:100:100 +16 89348934 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.4016G>A;CSQ_HGVSp=NP_037407.4:p.Cys1339Tyr;CSQ_HGVSg=16:g.89348934C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56358653&COSV56358653;CSQ_COSMICncMuts=COSV56358653&COSV56358653&COSV56358653;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=0.038;CSQ_Mastermind_MMID3=ANKRD11:C1339Y;CSQ_CADD_PHRED=15.38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,10:131:0.07634:65:-100:0.1494:2,3,1,3,1,0,20,51,11,21,14,14:100:100 +16 89349128 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.3822C>T;CSQ_HGVSp=NP_001243112.1:p.Ala1274%3D;CSQ_HGVSg=16:g.89349128G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380366;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1286;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.0416181;CSQ_gnomADe_AC=9929;CSQ_gnomADe_AN=246128;CSQ_gnomADe_AF=0.0403408;CSQ_gnomADe_Hom=368;CSQ_COSMICcMuts=COSV56357482&COSV56357482;CSQ_COSMICncMuts=COSV56357482&COSV56357482&COSV56357482;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD11:A1274A;CSQ_CADD_PHRED=0.064 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,14:169:0.08284:65:-100:0.1634:3,4,1,0,3,3,26,51,18,23,22,29:100:100 +16 89349128 . G A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.3822C>T;CSQ_HGVSp=NP_037407.4:p.Ala1274%3D;CSQ_HGVSg=16:g.89349128G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380366;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1286;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.0416181;CSQ_gnomADe_AC=9929;CSQ_gnomADe_AN=246128;CSQ_gnomADe_AF=0.0403408;CSQ_gnomADe_Hom=368;CSQ_COSMICcMuts=COSV56357482&COSV56357482;CSQ_COSMICncMuts=COSV56357482&COSV56357482&COSV56357482;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD11:A1274A;CSQ_CADD_PHRED=0.064 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,14:169:0.08284:65:-100:0.1634:3,4,1,0,3,3,26,51,18,23,22,29:100:100 +16 89349377 . G C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.3573C>G;CSQ_HGVSp=NP_001243112.1:p.Ala1191%3D;CSQ_HGVSg=16:g.89349377G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380365;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1284;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.0416667;CSQ_gnomADe_AC=9940;CSQ_gnomADe_AN=245952;CSQ_gnomADe_AF=0.0404144;CSQ_gnomADe_Hom=365;CSQ_COSMICcMuts=COSV56357490&COSV56357490;CSQ_COSMICncMuts=COSV56357490&COSV56357490&COSV56357490;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.067 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,6:116:0.05172:65:-46.675:0.1831:1,1,1,2,0,1,21,25,17,28,9,16:64.025:100 +16 89349377 . G C 100 PASS DP=116;CSQ_Allele=C;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.3573C>G;CSQ_HGVSp=NP_037407.4:p.Ala1191%3D;CSQ_HGVSg=16:g.89349377G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=380365;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified;CSQ_gnomADg_AC=1284;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.0416667;CSQ_gnomADe_AC=9940;CSQ_gnomADe_AN=245952;CSQ_gnomADe_AF=0.0404144;CSQ_gnomADe_Hom=365;CSQ_COSMICcMuts=COSV56357490&COSV56357490;CSQ_COSMICncMuts=COSV56357490&COSV56357490&COSV56357490;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.067 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,6:116:0.05172:65:-46.675:0.1831:1,1,1,2,0,1,21,25,17,28,9,16:64.025:100 +16 89350038 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.2912C>T;CSQ_HGVSp=NP_001243112.1:p.Ala971Val;CSQ_HGVSg=16:g.89350038G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=587797;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=19915;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.644332;CSQ_gnomADe_AC=154982;CSQ_gnomADe_AN=243656;CSQ_gnomADe_AF=0.636069;CSQ_gnomADe_Hom=52011;CSQ_COSMICcMuts=COSV56354485&COSV56354485;CSQ_COSMICncMuts=COSV56354485&COSV56354485&COSV56354485;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=0.026;CSQ_Mastermind_MMID3=ANKRD11:A971V;CSQ_CADD_PHRED=1.305 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,72:125:0.576:65:-100:0.1438:20,14,9,10,6,13,24,34,16,19,12,20:100:100 +16 89350038 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.2912C>T;CSQ_HGVSp=NP_037407.4:p.Ala971Val;CSQ_HGVSg=16:g.89350038G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=587797;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=19915;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.644332;CSQ_gnomADe_AC=154982;CSQ_gnomADe_AN=243656;CSQ_gnomADe_AF=0.636069;CSQ_gnomADe_Hom=52011;CSQ_COSMICcMuts=COSV56354485&COSV56354485;CSQ_COSMICncMuts=COSV56354485&COSV56354485&COSV56354485;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=0.026;CSQ_Mastermind_MMID3=ANKRD11:A971V;CSQ_CADD_PHRED=1.305 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,72:125:0.576:65:-100:0.1438:20,14,9,10,6,13,24,34,16,19,12,20:100:100 +16 89350178 . G A 100 PASS DP=144;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.2772C>T;CSQ_HGVSp=NP_001243112.1:p.Thr924%3D;CSQ_HGVSg=16:g.89350178G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169489;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=25348;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.819528;CSQ_gnomADe_AC=194935;CSQ_gnomADe_AN=245822;CSQ_gnomADe_AF=0.792992;CSQ_gnomADe_Hom=78295;CSQ_COSMICcMuts=COSV56354791&COSV56354791;CSQ_COSMICncMuts=COSV56354791&COSV56354791&COSV56354791;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD11:T924T;CSQ_CADD_PHRED=0.007 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,101:144:0.70139:65:-100:0.1479:22,24,9,15,14,17,32,40,13,19,17,23:100:100 +16 89350178 . G A 100 PASS DP=144;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.2772C>T;CSQ_HGVSp=NP_037407.4:p.Thr924%3D;CSQ_HGVSg=16:g.89350178G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169489;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=25348;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.819528;CSQ_gnomADe_AC=194935;CSQ_gnomADe_AN=245822;CSQ_gnomADe_AF=0.792992;CSQ_gnomADe_Hom=78295;CSQ_COSMICcMuts=COSV56354791&COSV56354791;CSQ_COSMICncMuts=COSV56354791&COSV56354791&COSV56354791;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ANKRD11:T924T;CSQ_CADD_PHRED=0.007 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,101:144:0.70139:65:-100:0.1479:22,24,9,15,14,17,32,40,13,19,17,23:100:100 +16 89350861 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.2088del;CSQ_HGVSp=NP_001243112.1:p.Glu697LysfsTer7;CSQ_HGVSg=16:g.89350867del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56358659&COSV56358659;CSQ_COSMICncMuts=COSV56358659&COSV56358659&COSV56358659;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,10:126:0.07937:65:-100:0:1,7,0,0,1,1,16,48,15,20,9,18:100:100 +16 89350861 . CT C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.2088del;CSQ_HGVSp=NP_037407.4:p.Glu697LysfsTer7;CSQ_HGVSg=16:g.89350867del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56358659&COSV56358659;CSQ_COSMICncMuts=COSV56358659&COSV56358659&COSV56358659;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,10:126:0.07937:65:-100:0:1,7,0,0,1,1,16,48,15,20,9,18:100:100 +16 89351474 . G A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.1476C>T;CSQ_HGVSp=NP_001243112.1:p.Asp492%3D;CSQ_HGVSg=16:g.89351474G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245056;CSQ_gnomADe_AF=8.1614e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56358668&COSV56358668;CSQ_COSMICncMuts=COSV56358668&COSV56358668&COSV56358668;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.292 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,11:160:0.06875:65:-100:0.1111:1,6,0,1,1,2,40,47,11,30,14,18:100:100 +16 89351474 . G A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.1476C>T;CSQ_HGVSp=NP_037407.4:p.Asp492%3D;CSQ_HGVSg=16:g.89351474G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245056;CSQ_gnomADe_AF=8.1614e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV56358668&COSV56358668;CSQ_COSMICncMuts=COSV56358668&COSV56358668&COSV56358668;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.292 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,11:160:0.06875:65:-100:0.1111:1,6,0,1,1,2,40,47,11,30,14,18:100:100 +16 89351654 . C G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_001256183.2;CSQ_HGVSc=NM_001256183.2:c.1296G>C;CSQ_HGVSp=NP_001243112.1:p.Thr432%3D;CSQ_HGVSg=16:g.89351654C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=446825;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=501;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.0162662;CSQ_gnomADe_AC=993;CSQ_gnomADe_AN=242996;CSQ_gnomADe_AF=0.00408649;CSQ_gnomADe_Hom=29;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,11:138:0.07971:65:-100:0.1737:2,5,2,0,0,2,22,53,11,22,12,18:100:100 +16 89351654 . C G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=ANKRD11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/13;CSQ_INTRON=.;CSQ_Feature=NM_013275.6;CSQ_HGVSc=NM_013275.6:c.1296G>C;CSQ_HGVSp=NP_037407.4:p.Thr432%3D;CSQ_HGVSg=16:g.89351654C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=446825;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=KBG_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=501;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.0162662;CSQ_gnomADe_AC=993;CSQ_gnomADe_AN=242996;CSQ_gnomADe_AF=0.00408649;CSQ_gnomADe_Hom=29;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.019 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,11:138:0.07971:65:-100:0.1737:2,5,2,0,0,2,22,53,11,22,12,18:100:100 +16 89805914 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=FANCA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=40/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.3982A>G;CSQ_HGVSp=NP_000126.2:p.Thr1328Ala;CSQ_HGVSg=16:g.89805914T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134278;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2084;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0673605;CSQ_gnomADe_AC=9715;CSQ_gnomADe_AN=148730;CSQ_gnomADe_AF=0.0653197;CSQ_gnomADe_Hom=576;CSQ_COSMICcMuts=COSV57066209&COSV57066209&COSV57066209;CSQ_COSMICncMuts=COSV57066209&COSV57066209&COSV57066209&COSV57066209&COSV57066209&COSV57066209&COSV57066209&COSV57066209&COSV57066209&COSV57066209&COSV57066209;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=0.202;CSQ_Mastermind_MMID3=FANCA:T1328A&ZNF276:3UTR;CSQ_CADD_PHRED=4.098 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,15:143:0.1049:65:-100:0.0949:1,6,0,4,1,3,12,54,6,30,15,26:100:100 +16 89807233 . C G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=FANCA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=38/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.3807G>C;CSQ_HGVSp=NP_000126.2:p.Leu1269%3D;CSQ_HGVSg=16:g.89807233C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255263;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=3446;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.111564;CSQ_gnomADe_AC=22663;CSQ_gnomADe_AN=245162;CSQ_gnomADe_AF=0.0924409;CSQ_gnomADe_Hom=1378;CSQ_COSMICcMuts=COSV57066221&COSV57066221&COSV57066221;CSQ_COSMICncMuts=COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221&COSV57066221;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCA:L1269L&ZNF276:3UTR;CSQ_CADD_PHRED=1.059 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,11:131:0.08397:65:-100:0.1208:4,2,1,2,1,1,27,35,11,23,17,18:100:100 +16 89809319 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=FANCA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=37/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.3654A>G;CSQ_HGVSp=NP_000126.2:p.Pro1218%3D;CSQ_HGVSg=16:g.89809319T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255261;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=4138;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.133734;CSQ_gnomADe_AC=24736;CSQ_gnomADe_AN=246156;CSQ_gnomADe_AF=0.100489;CSQ_gnomADe_Hom=1697;CSQ_COSMICcMuts=COSV57066232&COSV57066232;CSQ_COSMICncMuts=COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232&COSV57066232;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCA:P1218P;CSQ_CADD_PHRED=0.054 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,10:136:0.07353:65:-100:0.15:2,4,1,1,1,1,9,61,7,24,9,26:100:100 +16 89815152 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=FANCA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=33/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.3263C>T;CSQ_HGVSp=NP_000126.2:p.Ser1088Phe;CSQ_HGVSg=16:g.89815152G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134264;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Malignant_tumor_of_prostate&Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=1727;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0557744;CSQ_gnomADe_AC=12495;CSQ_gnomADe_AN=245676;CSQ_gnomADe_AF=0.0508597;CSQ_gnomADe_Hom=450;CSQ_COSMICcMuts=COSV59796184&COSV59796184;CSQ_COSMICncMuts=COSV59796184&COSV59796184&COSV59796184&COSV59796184;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=0.380;CSQ_Mastermind_MMID3=FANCA:S1088F;CSQ_CADD_PHRED=18.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,18:148:0.12162:65:-100:0.119:1,6,2,4,4,1,21,44,12,32,16,23:100:100 +16 89825065 . G A 100 PASS DP=127;CSQ_Allele=A;CSQ_SYMBOL=FANCA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=30/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.2901C>T;CSQ_HGVSp=NP_000126.2:p.Ser967%3D;CSQ_HGVSg=16:g.89825065G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255251;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2092;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0675798;CSQ_gnomADe_AC=16385;CSQ_gnomADe_AN=246216;CSQ_gnomADe_AF=0.0665473;CSQ_gnomADe_Hom=957;CSQ_COSMICcMuts=COSV59795612&COSV59795612;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCA:S967S;CSQ_CADD_PHRED=0.115 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,21:127:0.16535:65:-100:0.1181:2,7,2,1,3,6,19,44,18,13,14,19:100:100 +16 89836323 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=FANCA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=26/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.2426G>A;CSQ_HGVSp=NP_000126.2:p.Gly809Asp;CSQ_HGVSg=16:g.89836323C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134254;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=14692;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.475839;CSQ_gnomADe_AC=115831;CSQ_gnomADe_AN=245904;CSQ_gnomADe_AF=0.471042;CSQ_gnomADe_Hom=32766;CSQ_COSMICcMuts=COSV59796193&COSV59796193;CSQ_COSMICncMuts=COSV59796193&COSV59796193&COSV59796193&COSV59796193&COSV59796193&COSV59796193&COSV59796193;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.41;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=0.198;CSQ_Mastermind_MMID3=FANCA:G809D;CSQ_CADD_PHRED=12.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,71:131:0.54198:65:-100:0.1149:13,21,3,11,6,17,22,38,12,21,14,24:100:100 +16 89839766 . G C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=FANCA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.1927C>G;CSQ_HGVSp=NP_000126.2:p.Pro643Ala;CSQ_HGVSg=16:g.89839766G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134247;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2111;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0682024;CSQ_gnomADe_AC=9954;CSQ_gnomADe_AN=148796;CSQ_gnomADe_AF=0.066897;CSQ_gnomADe_Hom=635;CSQ_COSMICcMuts=COSV66879987&COSV66879987;CSQ_COSMICncMuts=COSV66879987&COSV66879987;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=0.233;CSQ_Mastermind_MMID3=FANCA:P643A;CSQ_CADD_PHRED=0.395 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,24:152:0.15789:65:-100:0.1314:3,10,0,6,1,4,22,55,16,24,13,22:100:100 +16 89849480 . C T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=FANCA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.1501G>A;CSQ_HGVSp=NP_000126.2:p.Gly501Ser;CSQ_HGVSg=16:g.89849480C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134244;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=16093;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.522229;CSQ_gnomADe_AC=123344;CSQ_gnomADe_AN=245966;CSQ_gnomADe_AF=0.501468;CSQ_gnomADe_Hom=33734;CSQ_COSMICcMuts=COSV66881058&COSV66881058;CSQ_COSMICncMuts=COSV66881058&COSV66881058;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.261;CSQ_Mastermind_MMID3=FANCA:G501S;CSQ_CADD_PHRED=0.033 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,80:141:0.56738:65:-100:0.1455:13,31,7,12,2,15,21,54,10,27,10,19:100:100 +16 89857935 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=FANCA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.1235C>T;CSQ_HGVSp=NP_000126.2:p.Ala412Val;CSQ_HGVSg=16:g.89857935G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134242;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2079;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0672119;CSQ_gnomADe_AC=16148;CSQ_gnomADe_AN=245604;CSQ_gnomADe_AF=0.0657481;CSQ_gnomADe_Hom=921;CSQ_COSMICcMuts=COSV66880572&COSV66880572;CSQ_COSMICncMuts=COSV66880572&COSV66880572;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.24;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=0.348;CSQ_Mastermind_MMID3=FANCA:A412V;CSQ_CADD_PHRED=22.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,15:143:0.1049:65:-100:0.1227:0,6,1,5,0,3,22,54,9,27,6,25:100:100 +16 89858417 . C A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=FANCA;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.1143G>T;CSQ_HGVSp=NP_000126.2:p.Thr381%3D;CSQ_HGVSg=16:g.89858417C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=255231;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2132;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0688675;CSQ_gnomADe_AC=16279;CSQ_gnomADe_AN=246256;CSQ_gnomADe_AF=0.066106;CSQ_gnomADe_Hom=943;CSQ_COSMICcMuts=COSV66880253&COSV66880253;CSQ_COSMICncMuts=COSV66880253;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCA:T381T;CSQ_CADD_PHRED=0.040 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,9:151:0.0596:65:-100:0.0958:1,3,1,1,2,1,23,46,13,31,13,25:97.783:100 +16 89858926 . ACT A 100 PASS DP=149;CSQ_Allele=-;CSQ_SYMBOL=FANCA;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.1034_1035del;CSQ_HGVSp=NP_000126.2:p.Glu345ValfsTer63;CSQ_HGVSg=16:g.89858933_89858934del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=558653;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=243756;CSQ_gnomADe_AF=8.20493e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FANCA:E345fs;CSQ_CADD_PHRED=29.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,19:149:0.12752:65:-100:0:1,9,1,3,2,3,14,57,12,25,17,24:100:100 +16 89866043 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=FANCA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.796A>G;CSQ_HGVSp=NP_000126.2:p.Thr266Ala;CSQ_HGVSg=16:g.89866043T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134294;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Malignant_tumor_of_breast&Fanconi_anemia_complementation_group_A&Fanconi_anemia&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=16531;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.53443;CSQ_gnomADe_AC=127801;CSQ_gnomADe_AN=246130;CSQ_gnomADe_AF=0.519242;CSQ_gnomADe_Hom=37457;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.19;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-30;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=0.084;CSQ_Mastermind_MMID3=FANCA:T234A&FANCA:T266A;CSQ_CADD_PHRED=5.621 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:47,61:108:0.56481:65:-100:0.1148:4,24,6,12,5,10,9,39,16,20,11,13:100:100 +16 89883007 . A T 100 PASS DP=24;CSQ_Allele=T;CSQ_SYMBOL=FANCA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/43;CSQ_INTRON=.;CSQ_Feature=NM_000135.4;CSQ_HGVSc=NM_000135.4:c.17T>A;CSQ_HGVSp=NP_000126.2:p.Val6Asp;CSQ_HGVSg=16:g.89883007A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134237;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Fanconi_anemia_complementation_group_A&Fanconi_anemia¬_specified¬_provided;CSQ_gnomADg_AC=2013;CSQ_gnomADg_AN=30718;CSQ_gnomADg_AF=0.0655316;CSQ_gnomADe_AC=9154;CSQ_gnomADe_AN=118996;CSQ_gnomADe_AF=0.076927;CSQ_gnomADe_Hom=434;CSQ_COSMICcMuts=COSV66881217&COSV66881217&COSV66881217&COSV66881217&COSV66881217&COSV66881217;CSQ_COSMICncMuts=COSV66881217&COSV66881217&COSV66881217;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.163;CSQ_Mastermind_MMID3=FANCA:V6D;CSQ_CADD_PHRED=14.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,4:24:0.16667:65:-100:0.0769:0,0,3,0,1,0,8,0,8,0,8,0:67.58:100 +17 7216736 . GGGCTGT G 100 PASS DP=146;CSQ_Allele=-;CSQ_SYMBOL=GPS2;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=8/11;CSQ_INTRON=.;CSQ_Feature=NM_004489.5;CSQ_HGVSc=NM_004489.5:c.681_686del;CSQ_HGVSp=NP_004480.1:p.Gln228_Pro229del;CSQ_HGVSg=17:g.7216748_7216753del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=3.23164e-05;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=246232;CSQ_gnomADe_AF=1.21836e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,12:146:0.08219:65:-100:0:1,3,1,2,0,5,20,59,11,19,14,24:100:100 +17 7217463 . T C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=GPS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_004489.5;CSQ_HGVSc=NM_004489.5:c.333A>G;CSQ_HGVSp=NP_004480.1:p.Leu111%3D;CSQ_HGVSg=17:g.7217463T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=16311;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.529028;CSQ_gnomADe_AC=138551;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=0.562671;CSQ_gnomADe_Hom=39962;CSQ_COSMICcMuts=COSV59747661&COSV59747661&COSV59747661;CSQ_COSMICncMuts=COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661&COSV59747661;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GPS2:L111L;CSQ_CADD_PHRED=11.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,43:130:0.33077:65:-100:0.1156:6,14,1,10,1,11,18,46,11,24,6,25:100:100 +17 7572685 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.*242G>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7572685C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,10:147:0.06803:65:-100:0.1552:1,2,1,4,1,1,25,51,7,33,13,18:100:100 +17 7572685 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.*531G>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7572685C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,10:147:0.06803:65:-100:0.1552:1,2,1,4,1,1,25,51,7,33,13,18:100:100 +17 7572685 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.*242G>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7572685C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,10:147:0.06803:65:-100:0.1552:1,2,1,4,1,1,25,51,7,33,13,18:100:100 +17 7572685 . C A 100 PASS DP=147;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.*242G>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7572685C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,10:147:0.06803:65:-100:0.1552:1,2,1,4,1,1,25,51,7,33,13,18:100:100 +17 7574936 . C T 100 PASS DP=70;CSQ_Allele=T;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.994-903G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7574936C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5189;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.167983;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729;CSQ_COSMICncMuts=COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:3UTR&TP53:3UTRint&TP53:3UTRinta&TP53:Q172int&TP53:Q172inta&TP53:Q199int&TP53:Q199inta&TP53:Q292int&TP53:Q292inta&TP53:Q331int&TP53:Q331inta;CSQ_CADD_PHRED=2.700 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,25:70:0.35714:65:-100:0.3333:7,6,5,3,1,3,14,20,11,11,5,9:100:100 +17 7574936 . C T 100 PASS DP=70;CSQ_Allele=T;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.*101-903G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7574936C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5189;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.167983;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729;CSQ_COSMICncMuts=COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:3UTR&TP53:3UTRint&TP53:3UTRinta&TP53:Q172int&TP53:Q172inta&TP53:Q199int&TP53:Q199inta&TP53:Q292int&TP53:Q292inta&TP53:Q331int&TP53:Q331inta;CSQ_CADD_PHRED=2.700 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,25:70:0.35714:65:-100:0.3333:7,6,5,3,1,3,14,20,11,11,5,9:100:100 +17 7574936 . C T 100 PASS DP=70;CSQ_Allele=T;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/6;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.598-903G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7574936C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5189;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.167983;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729;CSQ_COSMICncMuts=COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:3UTR&TP53:3UTRint&TP53:3UTRinta&TP53:Q172int&TP53:Q172inta&TP53:Q199int&TP53:Q199inta&TP53:Q292int&TP53:Q292inta&TP53:Q331int&TP53:Q331inta;CSQ_CADD_PHRED=2.700 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,25:70:0.35714:65:-100:0.3333:7,6,5,3,1,3,14,20,11,11,5,9:100:100 +17 7574936 . C T 100 PASS DP=70;CSQ_Allele=T;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.877-903G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7574936C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5189;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.167983;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729;CSQ_COSMICncMuts=COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729&COSV53538729;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:3UTR&TP53:3UTRint&TP53:3UTRinta&TP53:Q172int&TP53:Q172inta&TP53:Q199int&TP53:Q199inta&TP53:Q292int&TP53:Q292inta&TP53:Q331int&TP53:Q331inta;CSQ_CADD_PHRED=2.700 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:45,25:70:0.35714:65:-100:0.3333:7,6,5,3,1,3,14,20,11,11,5,9:100:100 +17 7575957 . C CA 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.993+895dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7575963dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,7:108:0.06481:65:-100:0:0,1,2,1,2,1,15,28,17,16,14,16:74.341:100 +17 7575957 . C CA 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.*100+567dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7575963dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,7:108:0.06481:65:-100:0:0,1,2,1,2,1,15,28,17,16,14,16:74.341:100 +17 7575957 . C CA 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/6;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.597+895dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7575963dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,7:108:0.06481:65:-100:0:0,1,2,1,2,1,15,28,17,16,14,16:74.341:100 +17 7575957 . C CA 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.876+895dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7575963dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,7:108:0.06481:65:-100:0:0,1,2,1,2,1,15,28,17,16,14,16:74.341:100 +17 7577407 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.782+92T>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7577407A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243959;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3266;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.105888;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988;CSQ_COSMICncMuts=COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:S102int&TP53:S102intd&TP53:S129int&TP53:S129intd&TP53:S222int&TP53:S222intd&TP53:S261int&TP53:S261intd;CSQ_CADD_PHRED=1.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,11:138:0.07971:65:-97.7418:0.1534:1,4,1,2,2,1,24,49,6,23,18,18:100:100 +17 7577407 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.782+92T>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7577407A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243959;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3266;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.105888;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988;CSQ_COSMICncMuts=COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:S102int&TP53:S102intd&TP53:S129int&TP53:S129intd&TP53:S222int&TP53:S222intd&TP53:S261int&TP53:S261intd;CSQ_CADD_PHRED=1.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,11:138:0.07971:65:-97.7418:0.1534:1,4,1,2,2,1,24,49,6,23,18,18:100:100 +17 7577407 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/6;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.386+92T>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7577407A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243959;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3266;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.105888;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988;CSQ_COSMICncMuts=COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:S102int&TP53:S102intd&TP53:S129int&TP53:S129intd&TP53:S222int&TP53:S222intd&TP53:S261int&TP53:S261intd;CSQ_CADD_PHRED=1.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,11:138:0.07971:65:-97.7418:0.1534:1,4,1,2,2,1,24,49,6,23,18,18:100:100 +17 7577407 . A C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.665+92T>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7577407A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243959;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3266;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.105888;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988;CSQ_COSMICncMuts=COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988&COSV52747988;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:S102int&TP53:S102intd&TP53:S129int&TP53:S129intd&TP53:S222int&TP53:S222intd&TP53:S261int&TP53:S261intd;CSQ_CADD_PHRED=1.014 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,11:138:0.07971:65:-97.7418:0.1534:1,4,1,2,2,1,24,49,6,23,18,18:100:100 +17 7577427 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.782+72C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7577427G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243351;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3267;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.105941;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994;CSQ_COSMICncMuts=COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:S102int&TP53:S102intd&TP53:S129int&TP53:S129intd&TP53:S222int&TP53:S222intd&TP53:S261int&TP53:S261intd;CSQ_CADD_PHRED=5.803 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,11:139:0.07914:65:-100:0.1677:4,2,1,1,2,1,28,45,8,22,15,21:100:100 +17 7577427 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.782+72C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7577427G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243351;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3267;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.105941;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994;CSQ_COSMICncMuts=COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:S102int&TP53:S102intd&TP53:S129int&TP53:S129intd&TP53:S222int&TP53:S222intd&TP53:S261int&TP53:S261intd;CSQ_CADD_PHRED=5.803 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,11:139:0.07914:65:-100:0.1677:4,2,1,1,2,1,28,45,8,22,15,21:100:100 +17 7577427 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/6;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.386+72C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7577427G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243351;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3267;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.105941;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994;CSQ_COSMICncMuts=COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:S102int&TP53:S102intd&TP53:S129int&TP53:S129intd&TP53:S222int&TP53:S222intd&TP53:S261int&TP53:S261intd;CSQ_CADD_PHRED=5.803 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,11:139:0.07914:65:-100:0.1677:4,2,1,1,2,1,28,45,8,22,15,21:100:100 +17 7577427 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.665+72C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7577427G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1243351;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=3267;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.105941;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994;CSQ_COSMICncMuts=COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994&COSV52747994;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:S102int&TP53:S102intd&TP53:S129int&TP53:S129intd&TP53:S222int&TP53:S222intd&TP53:S261int&TP53:S261intd;CSQ_CADD_PHRED=5.803 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,11:139:0.07914:65:-100:0.1677:4,2,1,1,2,1,28,45,8,22,15,21:100:100 +17 7577559 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.722C>T;CSQ_HGVSp=NP_001119584.1:p.Ser241Phe;CSQ_HGVSg=17:g.7577559G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12359;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hepatocellular_carcinoma&Hepatoblastoma&Pancreatic_adenocarcinoma&Squamous_cell_carcinoma_of_the_skin&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Non-Hodgkin_lymphoma&Lung_adenocarcinoma&Neoplasm_of_brain&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Choroid_plexus_papilloma&Bone_osteosarcoma&Gallbladder_carcinoma&Carcinoma_of_pancreas&Colorectal_cancer&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Adrenocortical_carcinoma&_hereditary&Squamous_cell_carcinoma_of_the_head_and_neck&Basal_cell_carcinoma&_susceptibility_to&_7&Hereditary_cancer-predisposing_syndrome&Nasopharyngeal_carcinoma&Familial_cancer_of_breast&Glioblastoma&Li-Fraumeni_syndrome&Lip_and_oral_cavity_carcinoma&Glioma_susceptibility_1&Bone_marrow_failure_syndrome_5&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=4.06088e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688;CSQ_COSMICncMuts=COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=TP53:S241;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.958;CSQ_Mastermind_MMID3=TP53:S109F&TP53:S202F&TP53:S241F&TP53:S82F;CSQ_CADD_PHRED=25.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,8:122:0.06557:65:-98.3625:0.2606:0,1,1,3,2,1,18,41,8,25,5,25:98.497:100 +17 7577559 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/12;CSQ_INTRON=.;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.722C>T;CSQ_HGVSp=NP_001119586.1:p.Ser241Phe;CSQ_HGVSg=17:g.7577559G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12359;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hepatocellular_carcinoma&Hepatoblastoma&Pancreatic_adenocarcinoma&Squamous_cell_carcinoma_of_the_skin&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Non-Hodgkin_lymphoma&Lung_adenocarcinoma&Neoplasm_of_brain&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Choroid_plexus_papilloma&Bone_osteosarcoma&Gallbladder_carcinoma&Carcinoma_of_pancreas&Colorectal_cancer&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Adrenocortical_carcinoma&_hereditary&Squamous_cell_carcinoma_of_the_head_and_neck&Basal_cell_carcinoma&_susceptibility_to&_7&Hereditary_cancer-predisposing_syndrome&Nasopharyngeal_carcinoma&Familial_cancer_of_breast&Glioblastoma&Li-Fraumeni_syndrome&Lip_and_oral_cavity_carcinoma&Glioma_susceptibility_1&Bone_marrow_failure_syndrome_5&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=4.06088e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688;CSQ_COSMICncMuts=COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=TP53:S241;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.958;CSQ_Mastermind_MMID3=TP53:S109F&TP53:S202F&TP53:S241F&TP53:S82F;CSQ_CADD_PHRED=25.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,8:122:0.06557:65:-98.3625:0.2606:0,1,1,3,2,1,18,41,8,25,5,25:98.497:100 +17 7577559 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/7;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.326C>T;CSQ_HGVSp=NP_001119587.1:p.Ser109Phe;CSQ_HGVSg=17:g.7577559G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12359;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hepatocellular_carcinoma&Hepatoblastoma&Pancreatic_adenocarcinoma&Squamous_cell_carcinoma_of_the_skin&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Non-Hodgkin_lymphoma&Lung_adenocarcinoma&Neoplasm_of_brain&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Choroid_plexus_papilloma&Bone_osteosarcoma&Gallbladder_carcinoma&Carcinoma_of_pancreas&Colorectal_cancer&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Adrenocortical_carcinoma&_hereditary&Squamous_cell_carcinoma_of_the_head_and_neck&Basal_cell_carcinoma&_susceptibility_to&_7&Hereditary_cancer-predisposing_syndrome&Nasopharyngeal_carcinoma&Familial_cancer_of_breast&Glioblastoma&Li-Fraumeni_syndrome&Lip_and_oral_cavity_carcinoma&Glioma_susceptibility_1&Bone_marrow_failure_syndrome_5&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=4.06088e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688;CSQ_COSMICncMuts=COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=TP53:S241;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.958;CSQ_Mastermind_MMID3=TP53:S109F&TP53:S202F&TP53:S241F&TP53:S82F;CSQ_CADD_PHRED=25.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,8:122:0.06557:65:-98.3625:0.2606:0,1,1,3,2,1,18,41,8,25,5,25:98.497:100 +17 7577559 . G A 100 PASS DP=122;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.605C>T;CSQ_HGVSp=NP_001119590.1:p.Ser202Phe;CSQ_HGVSg=17:g.7577559G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12359;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hepatocellular_carcinoma&Hepatoblastoma&Pancreatic_adenocarcinoma&Squamous_cell_carcinoma_of_the_skin&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Non-Hodgkin_lymphoma&Lung_adenocarcinoma&Neoplasm_of_brain&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Choroid_plexus_papilloma&Bone_osteosarcoma&Gallbladder_carcinoma&Carcinoma_of_pancreas&Colorectal_cancer&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Adrenocortical_carcinoma&_hereditary&Squamous_cell_carcinoma_of_the_head_and_neck&Basal_cell_carcinoma&_susceptibility_to&_7&Hereditary_cancer-predisposing_syndrome&Nasopharyngeal_carcinoma&Familial_cancer_of_breast&Glioblastoma&Li-Fraumeni_syndrome&Lip_and_oral_cavity_carcinoma&Glioma_susceptibility_1&Bone_marrow_failure_syndrome_5&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=4.06088e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688;CSQ_COSMICncMuts=COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688&COSV52661688;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=TP53:S241;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.958;CSQ_Mastermind_MMID3=TP53:S109F&TP53:S202F&TP53:S241F&TP53:S82F;CSQ_CADD_PHRED=25.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,8:122:0.06557:65:-98.3625:0.2606:0,1,1,3,2,1,18,41,8,25,5,25:98.497:100 +17 7577559 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.722C>G;CSQ_HGVSp=NP_001119584.1:p.Ser241Cys;CSQ_HGVSg=17:g.7577559G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=177791;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Pancreatic_adenocarcinoma&Squamous_cell_carcinoma_of_the_skin&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Non-Hodgkin_lymphoma&Lung_adenocarcinoma&Neoplasm_of_brain&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Gallbladder_carcinoma&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Lung_cancer&Squamous_cell_carcinoma_of_the_head_and_neck&Hereditary_cancer-predisposing_syndrome&Glioblastoma&Li-Fraumeni_syndrome&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386;CSQ_COSMICncMuts=COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=TP53:S241;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.952;CSQ_Mastermind_MMID3=TP53:S109C&TP53:S202C&TP53:S241C&TP53:S82C;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,3:122:0.02459:65:-46.7393:0.2606:0,1,1,0,0,1,18,41,8,25,5,25:27.595:81.375 +17 7577559 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/12;CSQ_INTRON=.;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.722C>G;CSQ_HGVSp=NP_001119586.1:p.Ser241Cys;CSQ_HGVSg=17:g.7577559G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=177791;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Pancreatic_adenocarcinoma&Squamous_cell_carcinoma_of_the_skin&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Non-Hodgkin_lymphoma&Lung_adenocarcinoma&Neoplasm_of_brain&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Gallbladder_carcinoma&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Lung_cancer&Squamous_cell_carcinoma_of_the_head_and_neck&Hereditary_cancer-predisposing_syndrome&Glioblastoma&Li-Fraumeni_syndrome&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386;CSQ_COSMICncMuts=COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=TP53:S241;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.952;CSQ_Mastermind_MMID3=TP53:S109C&TP53:S202C&TP53:S241C&TP53:S82C;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,3:122:0.02459:65:-46.7393:0.2606:0,1,1,0,0,1,18,41,8,25,5,25:27.595:81.375 +17 7577559 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/7;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.326C>G;CSQ_HGVSp=NP_001119587.1:p.Ser109Cys;CSQ_HGVSg=17:g.7577559G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=177791;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Pancreatic_adenocarcinoma&Squamous_cell_carcinoma_of_the_skin&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Non-Hodgkin_lymphoma&Lung_adenocarcinoma&Neoplasm_of_brain&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Gallbladder_carcinoma&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Lung_cancer&Squamous_cell_carcinoma_of_the_head_and_neck&Hereditary_cancer-predisposing_syndrome&Glioblastoma&Li-Fraumeni_syndrome&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386;CSQ_COSMICncMuts=COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=TP53:S241;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.952;CSQ_Mastermind_MMID3=TP53:S109C&TP53:S202C&TP53:S241C&TP53:S82C;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,3:122:0.02459:65:-46.7393:0.2606:0,1,1,0,0,1,18,41,8,25,5,25:27.595:81.375 +17 7577559 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.605C>G;CSQ_HGVSp=NP_001119590.1:p.Ser202Cys;CSQ_HGVSg=17:g.7577559G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=177791;CSQ_ClinVar_CLNSIG=Pathogenic/Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Pancreatic_adenocarcinoma&Squamous_cell_carcinoma_of_the_skin&Transitional_cell_carcinoma_of_the_bladder&Breast_neoplasm&Brainstem_glioma&Carcinoma_of_esophagus&Renal_cell_carcinoma&_papillary&_1&Malignant_melanoma_of_skin&Non-Hodgkin_lymphoma&Lung_adenocarcinoma&Neoplasm_of_brain&Neoplasm_of_ovary&Neoplasm_of_the_large_intestine&Gallbladder_carcinoma&Ovarian_serous_cystadenocarcinoma&Uterine_carcinosarcoma&Lung_cancer&Squamous_cell_carcinoma_of_the_head_and_neck&Hereditary_cancer-predisposing_syndrome&Glioblastoma&Li-Fraumeni_syndrome&Papillary_renal_cell_carcinoma&_sporadic&Malignant_neoplasm_of_body_of_uterus¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386;CSQ_COSMICncMuts=COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386&COSV52662386;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=TP53:S241;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=0.952;CSQ_Mastermind_MMID3=TP53:S109C&TP53:S202C&TP53:S241C&TP53:S82C;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,3:122:0.02459:65:-46.7393:0.2606:0,1,1,0,0,1,18,41,8,25,5,25:27.595:81.375 +17 7578115 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.672+62A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578115T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256603;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=25767;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.834099;CSQ_gnomADe_AC=186273;CSQ_gnomADe_AN=215748;CSQ_gnomADe_AF=0.863382;CSQ_gnomADe_Hom=80715;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:E185int&TP53:E185intd&TP53:E224int&TP53:E224intd&TP53:E65int&TP53:E65intd&TP53:E92int&TP53:E92intd;CSQ_CADD_PHRED=2.819 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,110:136:0.80882:65:-100:0.1392:19,36,7,22,4,22,25,45,9,24,7,26:100:100 +17 7578115 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.672+62A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578115T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256603;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=25767;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.834099;CSQ_gnomADe_AC=186273;CSQ_gnomADe_AN=215748;CSQ_gnomADe_AF=0.863382;CSQ_gnomADe_Hom=80715;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:E185int&TP53:E185intd&TP53:E224int&TP53:E224intd&TP53:E65int&TP53:E65intd&TP53:E92int&TP53:E92intd;CSQ_CADD_PHRED=2.819 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,110:136:0.80882:65:-100:0.1392:19,36,7,22,4,22,25,45,9,24,7,26:100:100 +17 7578115 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/6;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.276+62A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578115T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256603;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=25767;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.834099;CSQ_gnomADe_AC=186273;CSQ_gnomADe_AN=215748;CSQ_gnomADe_AF=0.863382;CSQ_gnomADe_Hom=80715;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:E185int&TP53:E185intd&TP53:E224int&TP53:E224intd&TP53:E65int&TP53:E65intd&TP53:E92int&TP53:E92intd;CSQ_CADD_PHRED=2.819 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,110:136:0.80882:65:-100:0.1392:19,36,7,22,4,22,25,45,9,24,7,26:100:100 +17 7578115 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.555+62A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578115T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256603;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=25767;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.834099;CSQ_gnomADe_AC=186273;CSQ_gnomADe_AN=215748;CSQ_gnomADe_AF=0.863382;CSQ_gnomADe_Hom=80715;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:E185int&TP53:E185intd&TP53:E224int&TP53:E224intd&TP53:E65int&TP53:E65intd&TP53:E92int&TP53:E92intd;CSQ_CADD_PHRED=2.819 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,110:136:0.80882:65:-100:0.1392:19,36,7,22,4,22,25,45,9,24,7,26:100:100 +17 7578280 . G A 44 LowSupport;rescued DP=116;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.569C>T;CSQ_HGVSp=NP_001119584.1:p.Pro190Leu;CSQ_HGVSg=17:g.7578280G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=418517;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52664064&COSV52664064&COSV52664064&COSV52664064&COSV52664064&COSV52664064;CSQ_COSMICncMuts=COSV52664064&COSV52664064&COSV52664064&COSV52664064;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=0.824;CSQ_Mastermind_MMID3=TP53:P151L&TP53:P190L&TP53:P31L&TP53:P58L;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:44:115,1:116:0.00862:65:-46.4874:0.1278:0,0,0,0,0,1,17,49,8,17,3,22:7.044:5.36 +17 7578280 . G A 44 LowSupport;rescued DP=116;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.569C>T;CSQ_HGVSp=NP_001119586.1:p.Pro190Leu;CSQ_HGVSg=17:g.7578280G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=418517;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52664064&COSV52664064&COSV52664064&COSV52664064&COSV52664064&COSV52664064;CSQ_COSMICncMuts=COSV52664064&COSV52664064&COSV52664064&COSV52664064;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=0.824;CSQ_Mastermind_MMID3=TP53:P151L&TP53:P190L&TP53:P31L&TP53:P58L;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:44:115,1:116:0.00862:65:-46.4874:0.1278:0,0,0,0,0,1,17,49,8,17,3,22:7.044:5.36 +17 7578280 . G A 44 LowSupport;rescued DP=116;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.173C>T;CSQ_HGVSp=NP_001119587.1:p.Pro58Leu;CSQ_HGVSg=17:g.7578280G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=418517;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52664064&COSV52664064&COSV52664064&COSV52664064&COSV52664064&COSV52664064;CSQ_COSMICncMuts=COSV52664064&COSV52664064&COSV52664064&COSV52664064;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=0.824;CSQ_Mastermind_MMID3=TP53:P151L&TP53:P190L&TP53:P31L&TP53:P58L;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:44:115,1:116:0.00862:65:-46.4874:0.1278:0,0,0,0,0,1,17,49,8,17,3,22:7.044:5.36 +17 7578280 . G A 44 LowSupport;rescued DP=116;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.452C>T;CSQ_HGVSp=NP_001119590.1:p.Pro151Leu;CSQ_HGVSg=17:g.7578280G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=418517;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52664064&COSV52664064&COSV52664064&COSV52664064&COSV52664064&COSV52664064;CSQ_COSMICncMuts=COSV52664064&COSV52664064&COSV52664064&COSV52664064;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=0.824;CSQ_Mastermind_MMID3=TP53:P151L&TP53:P190L&TP53:P31L&TP53:P58L;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:44:115,1:116:0.00862:65:-46.4874:0.1278:0,0,0,0,0,1,17,49,8,17,3,22:7.044:5.36 +17 7578419 . C A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.511G>T;CSQ_HGVSp=NP_001119584.1:p.Glu171Ter;CSQ_HGVSg=17:g.7578419C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=634771;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Li-Fraumeni_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52671445&COSV52671445&COSV52671445&COSV52671445&COSV52671445&COSV52671445;CSQ_COSMICncMuts=COSV52671445&COSV52671445&COSV52671445&COSV52671445;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.84;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:E12X&TP53:E132X&TP53:E171X&TP53:E39X;CSQ_CADD_PHRED=44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1345:0,4,0,3,0,5,17,50,11,22,9,39:100:100 +17 7578419 . C A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=5/12;CSQ_INTRON=.;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.511G>T;CSQ_HGVSp=NP_001119586.1:p.Glu171Ter;CSQ_HGVSg=17:g.7578419C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=634771;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Li-Fraumeni_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52671445&COSV52671445&COSV52671445&COSV52671445&COSV52671445&COSV52671445;CSQ_COSMICncMuts=COSV52671445&COSV52671445&COSV52671445&COSV52671445;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.84;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:E12X&TP53:E132X&TP53:E171X&TP53:E39X;CSQ_CADD_PHRED=44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1345:0,4,0,3,0,5,17,50,11,22,9,39:100:100 +17 7578419 . C A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.115G>T;CSQ_HGVSp=NP_001119587.1:p.Glu39Ter;CSQ_HGVSg=17:g.7578419C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=634771;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Li-Fraumeni_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52671445&COSV52671445&COSV52671445&COSV52671445&COSV52671445&COSV52671445;CSQ_COSMICncMuts=COSV52671445&COSV52671445&COSV52671445&COSV52671445;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.84;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:E12X&TP53:E132X&TP53:E171X&TP53:E39X;CSQ_CADD_PHRED=44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1345:0,4,0,3,0,5,17,50,11,22,9,39:100:100 +17 7578419 . C A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.394G>T;CSQ_HGVSp=NP_001119590.1:p.Glu132Ter;CSQ_HGVSg=17:g.7578419C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=634771;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Li-Fraumeni_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52671445&COSV52671445&COSV52671445&COSV52671445&COSV52671445&COSV52671445;CSQ_COSMICncMuts=COSV52671445&COSV52671445&COSV52671445&COSV52671445;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.84;CSQ_SpliceAI_pred_DS_DL=0.03;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:E12X&TP53:E132X&TP53:E171X&TP53:E39X;CSQ_CADD_PHRED=44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1345:0,4,0,3,0,5,17,50,11,22,9,39:100:100 +17 7578561 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=4/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.376-7C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578561G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=510753;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_specified;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:T125int&TP53:T125inta&TP53:T125sra;CSQ_CADD_PHRED=7.592 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,6:142:0.04225:65:-46.8046:0.1792:0,1,0,2,1,2,26,42,13,20,14,27:62.601:100 +17 7578561 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.376-7C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578561G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=510753;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_specified;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:T125int&TP53:T125inta&TP53:T125sra;CSQ_CADD_PHRED=7.592 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,6:142:0.04225:65:-46.8046:0.1792:0,1,0,2,1,2,26,42,13,20,14,27:62.601:100 +17 7578561 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/7;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=NM_001126115.2:c.-28C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578561G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=510753;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_specified;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.592 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,6:142:0.04225:65:-46.8046:0.1792:0,1,0,2,1,2,26,42,13,20,14,27:62.601:100 +17 7578561 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.259-7C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578561G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=510753;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_specified;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:T125int&TP53:T125inta&TP53:T125sra;CSQ_CADD_PHRED=7.592 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,6:142:0.04225:65:-46.8046:0.1792:0,1,0,2,1,2,26,42,13,20,14,27:62.601:100 +17 7578577 . G C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.376-23C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578577G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,9:136:0.06618:65:-100:0.1447:2,4,1,1,0,1,21,46,12,19,13,25:100:100 +17 7578577 . G C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.376-23C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578577G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,9:136:0.06618:65:-100:0.1447:2,4,1,1,0,1,21,46,12,19,13,25:100:100 +17 7578577 . G C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578577G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,9:136:0.06618:65:-100:0.1447:2,4,1,1,0,1,21,46,12,19,13,25:100:100 +17 7578577 . G C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.259-23C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578577G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.735 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,9:136:0.06618:65:-100:0.1447:2,4,1,1,0,1,21,46,12,19,13,25:100:100 +17 7578645 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.376-91G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=440348;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=25863;CSQ_gnomADg_AN=30762;CSQ_gnomADg_AF=0.840745;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52668782&COSV52668782&COSV52668782&COSV52668782&COSV52668782&COSV52668782;CSQ_COSMICncMuts=COSV52668782&COSV52668782;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:T125int&TP53:T125inta&TP53:T86int&TP53:T86inta;CSQ_CADD_PHRED=3.797 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,111:137:0.81022:65:-100:0.2346:19,38,7,17,8,22,23,43,7,23,14,27:100:100 +17 7578645 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.376-91G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=440348;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=25863;CSQ_gnomADg_AN=30762;CSQ_gnomADg_AF=0.840745;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52668782&COSV52668782&COSV52668782&COSV52668782&COSV52668782&COSV52668782;CSQ_COSMICncMuts=COSV52668782&COSV52668782;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:T125int&TP53:T125inta&TP53:T86int&TP53:T86inta;CSQ_CADD_PHRED=3.797 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,111:137:0.81022:65:-100:0.2346:19,38,7,17,8,22,23,43,7,23,14,27:100:100 +17 7578645 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=TP53;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=440348;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=25863;CSQ_gnomADg_AN=30762;CSQ_gnomADg_AF=0.840745;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52668782&COSV52668782&COSV52668782&COSV52668782&COSV52668782&COSV52668782;CSQ_COSMICncMuts=COSV52668782&COSV52668782;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.797 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,111:137:0.81022:65:-100:0.2346:19,38,7,17,8,22,23,43,7,23,14,27:100:100 +17 7578645 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.259-91G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578645C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=440348;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=25863;CSQ_gnomADg_AN=30762;CSQ_gnomADg_AF=0.840745;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52668782&COSV52668782&COSV52668782&COSV52668782&COSV52668782&COSV52668782;CSQ_COSMICncMuts=COSV52668782&COSV52668782;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:T125int&TP53:T125inta&TP53:T86int&TP53:T86inta;CSQ_CADD_PHRED=3.797 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,111:137:0.81022:65:-100:0.2346:19,38,7,17,8,22,23,43,7,23,14,27:100:100 +17 7578837 . A G 100 PASS DP=58;CSQ_Allele=G;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.376-283T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578837A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=695142;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_provided;CSQ_gnomADg_AC=26113;CSQ_gnomADg_AN=30744;CSQ_gnomADg_AF=0.849369;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:T125int&TP53:T125inta&TP53:T86int&TP53:T86inta;CSQ_CADD_PHRED=1.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,46:58:0.7931:65:-100:0.3763:11,9,8,3,7,8,12,11,10,7,8,10:100:100 +17 7578837 . A G 100 PASS DP=58;CSQ_Allele=G;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.376-283T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578837A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=695142;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_provided;CSQ_gnomADg_AC=26113;CSQ_gnomADg_AN=30744;CSQ_gnomADg_AF=0.849369;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:T125int&TP53:T125inta&TP53:T86int&TP53:T86inta;CSQ_CADD_PHRED=1.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,46:58:0.7931:65:-100:0.3763:11,9,8,3,7,8,12,11,10,7,8,10:100:100 +17 7578837 . A G 100 PASS DP=58;CSQ_Allele=G;CSQ_SYMBOL=TP53;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578837A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=695142;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_provided;CSQ_gnomADg_AC=26113;CSQ_gnomADg_AN=30744;CSQ_gnomADg_AF=0.849369;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,46:58:0.7931:65:-100:0.3763:11,9,8,3,7,8,12,11,10,7,8,10:100:100 +17 7578837 . A G 100 PASS DP=58;CSQ_Allele=G;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.259-283T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7578837A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=695142;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_provided;CSQ_gnomADg_AC=26113;CSQ_gnomADg_AN=30744;CSQ_gnomADg_AF=0.849369;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:T125int&TP53:T125inta&TP53:T86int&TP53:T86inta;CSQ_CADD_PHRED=1.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,46:58:0.7931:65:-100:0.3763:11,9,8,3,7,8,12,11,10,7,8,10:100:100 +17 7579472 . G C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.215C>G;CSQ_HGVSp=NP_001119584.1:p.Pro72Arg;CSQ_HGVSg=17:g.7579472G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12351;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=CODON_72_POLYMORPHISM&Li-Fraumeni_syndrome_1&Hepatocellular_carcinoma&Choroid_plexus_papilloma&Bone_osteosarcoma&Hereditary_breast_ovarian_cancer_syndrome&Carcinoma_of_pancreas&Colorectal_cancer&Adrenocortical_carcinoma&_hereditary&Basal_cell_carcinoma&_susceptibility_to&_7&Hereditary_cancer-predisposing_syndrome&Nasopharyngeal_carcinoma&Familial_cancer_of_breast&Li-Fraumeni_syndrome&Lip_and_oral_cavity_carcinoma&Glioma_susceptibility_1&Bone_marrow_failure_syndrome_5¬_specified¬_provided;CSQ_gnomADg_AC=19117;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.619355;CSQ_gnomADe_AC=164592;CSQ_gnomADe_AN=246180;CSQ_gnomADe_AF=0.668584;CSQ_gnomADe_Hom=56629;CSQ_COSMICcMuts=COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208;CSQ_COSMICncMuts=COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.368;CSQ_Mastermind_MMID3=TP53:L32int&TP53:L32intd&TP53:P33R&TP53:P72R;CSQ_CADD_PHRED=9.176 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,109:130:0.83846:65:-100:0.1216:19,31,11,14,18,16,23,36,12,17,20,22:100:100 +17 7579472 . G C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.215C>G;CSQ_HGVSp=NP_001119586.1:p.Pro72Arg;CSQ_HGVSg=17:g.7579472G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12351;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=CODON_72_POLYMORPHISM&Li-Fraumeni_syndrome_1&Hepatocellular_carcinoma&Choroid_plexus_papilloma&Bone_osteosarcoma&Hereditary_breast_ovarian_cancer_syndrome&Carcinoma_of_pancreas&Colorectal_cancer&Adrenocortical_carcinoma&_hereditary&Basal_cell_carcinoma&_susceptibility_to&_7&Hereditary_cancer-predisposing_syndrome&Nasopharyngeal_carcinoma&Familial_cancer_of_breast&Li-Fraumeni_syndrome&Lip_and_oral_cavity_carcinoma&Glioma_susceptibility_1&Bone_marrow_failure_syndrome_5¬_specified¬_provided;CSQ_gnomADg_AC=19117;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.619355;CSQ_gnomADe_AC=164592;CSQ_gnomADe_AN=246180;CSQ_gnomADe_AF=0.668584;CSQ_gnomADe_Hom=56629;CSQ_COSMICcMuts=COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208;CSQ_COSMICncMuts=COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.368;CSQ_Mastermind_MMID3=TP53:L32int&TP53:L32intd&TP53:P33R&TP53:P72R;CSQ_CADD_PHRED=9.176 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,109:130:0.83846:65:-100:0.1216:19,31,11,14,18,16,23,36,12,17,20,22:100:100 +17 7579472 . G C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7579472G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12351;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=CODON_72_POLYMORPHISM&Li-Fraumeni_syndrome_1&Hepatocellular_carcinoma&Choroid_plexus_papilloma&Bone_osteosarcoma&Hereditary_breast_ovarian_cancer_syndrome&Carcinoma_of_pancreas&Colorectal_cancer&Adrenocortical_carcinoma&_hereditary&Basal_cell_carcinoma&_susceptibility_to&_7&Hereditary_cancer-predisposing_syndrome&Nasopharyngeal_carcinoma&Familial_cancer_of_breast&Li-Fraumeni_syndrome&Lip_and_oral_cavity_carcinoma&Glioma_susceptibility_1&Bone_marrow_failure_syndrome_5¬_specified¬_provided;CSQ_gnomADg_AC=19117;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.619355;CSQ_gnomADe_AC=164592;CSQ_gnomADe_AN=246180;CSQ_gnomADe_AF=0.668584;CSQ_gnomADe_Hom=56629;CSQ_COSMICcMuts=COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208;CSQ_COSMICncMuts=COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.176 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,109:130:0.83846:65:-100:0.1216:19,31,11,14,18,16,23,36,12,17,20,22:100:100 +17 7579472 . G C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.98C>G;CSQ_HGVSp=NP_001119590.1:p.Pro33Arg;CSQ_HGVSg=17:g.7579472G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=12351;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=CODON_72_POLYMORPHISM&Li-Fraumeni_syndrome_1&Hepatocellular_carcinoma&Choroid_plexus_papilloma&Bone_osteosarcoma&Hereditary_breast_ovarian_cancer_syndrome&Carcinoma_of_pancreas&Colorectal_cancer&Adrenocortical_carcinoma&_hereditary&Basal_cell_carcinoma&_susceptibility_to&_7&Hereditary_cancer-predisposing_syndrome&Nasopharyngeal_carcinoma&Familial_cancer_of_breast&Li-Fraumeni_syndrome&Lip_and_oral_cavity_carcinoma&Glioma_susceptibility_1&Bone_marrow_failure_syndrome_5¬_specified¬_provided;CSQ_gnomADg_AC=19117;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.619355;CSQ_gnomADe_AC=164592;CSQ_gnomADe_AN=246180;CSQ_gnomADe_AF=0.668584;CSQ_gnomADe_Hom=56629;CSQ_COSMICcMuts=COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208;CSQ_COSMICncMuts=COSV52666208&COSV52666208&COSV52666208&COSV52666208&COSV52666208;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.368;CSQ_Mastermind_MMID3=TP53:L32int&TP53:L32intd&TP53:P33R&TP53:P72R;CSQ_CADD_PHRED=9.176 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:21,109:130:0.83846:65:-100:0.1216:19,31,11,14,18,16,23,36,12,17,20,22:100:100 +17 7579801 . G C 100 PASS DP=77;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.74+38C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7579801G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137691;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=20091;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.652009;CSQ_gnomADe_AC=163840;CSQ_gnomADe_AN=243150;CSQ_gnomADe_AF=0.673823;CSQ_gnomADe_Hom=56219;CSQ_COSMICcMuts=COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860;CSQ_COSMICncMuts=COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:5UTRint&TP53:5UTRintd&TP53:L25int&TP53:L25inta&TP53:L25intd;CSQ_CADD_PHRED=6.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,51:77:0.66234:65:-100:0.5188:2,27,1,14,0,7,7,37,3,18,0,12:100:100 +17 7579801 . G C 100 PASS DP=77;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.74+38C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7579801G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137691;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=20091;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.652009;CSQ_gnomADe_AC=163840;CSQ_gnomADe_AN=243150;CSQ_gnomADe_AF=0.673823;CSQ_gnomADe_Hom=56219;CSQ_COSMICcMuts=COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860;CSQ_COSMICncMuts=COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:5UTRint&TP53:5UTRintd&TP53:L25int&TP53:L25inta&TP53:L25intd;CSQ_CADD_PHRED=6.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,51:77:0.66234:65:-100:0.5188:2,27,1,14,0,7,7,37,3,18,0,12:100:100 +17 7579801 . G C 100 PASS DP=77;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7579801G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137691;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=20091;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.652009;CSQ_gnomADe_AC=163840;CSQ_gnomADe_AN=243150;CSQ_gnomADe_AF=0.673823;CSQ_gnomADe_Hom=56219;CSQ_COSMICcMuts=COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860;CSQ_COSMICncMuts=COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:5UTRint&TP53:5UTRintd&TP53:L25int&TP53:L25inta&TP53:L25intd;CSQ_CADD_PHRED=6.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,51:77:0.66234:65:-100:0.5188:2,27,1,14,0,7,7,37,3,18,0,12:100:100 +17 7579801 . G C 100 PASS DP=77;CSQ_Allele=C;CSQ_SYMBOL=TP53;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.-123C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7579801G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137691;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Li-Fraumeni_syndrome_1&Hereditary_breast_ovarian_cancer_syndrome&Hereditary_cancer-predisposing_syndrome&Li-Fraumeni_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=20091;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.652009;CSQ_gnomADe_AC=163840;CSQ_gnomADe_AN=243150;CSQ_gnomADe_AF=0.673823;CSQ_gnomADe_Hom=56219;CSQ_COSMICcMuts=COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860;CSQ_COSMICncMuts=COSV52668860&COSV52668860&COSV52668860&COSV52668860&COSV52668860;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:5UTRint&TP53:5UTRintd&TP53:L25int&TP53:L25inta&TP53:L25intd;CSQ_CADD_PHRED=6.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,51:77:0.66234:65:-100:0.5188:2,27,1,14,0,7,7,37,3,18,0,12:100:100 +17 7581178 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/10;CSQ_Feature=NM_001126112.3;CSQ_HGVSc=NM_001126112.3:c.-25-1241C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7581178G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000387622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:5UTRint&TP53:5UTRinta;CSQ_CADD_PHRED=1.469 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,9:118:0.07627:65:-100:0.1259:2,2,1,2,0,2,25,27,10,19,15,22:100:100 +17 7581178 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/11;CSQ_Feature=NM_001126114.3;CSQ_HGVSc=NM_001126114.3:c.-28-1238C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7581178G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000387622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:5UTRint&TP53:5UTRinta;CSQ_CADD_PHRED=1.469 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,9:118:0.07627:65:-100:0.1259:2,2,1,2,0,2,25,27,10,19,15,22:100:100 +17 7581178 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001126115.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7581178G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000387622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:5UTRint&TP53:5UTRinta;CSQ_CADD_PHRED=1.469 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,9:118:0.07627:65:-100:0.1259:2,2,1,2,0,2,25,27,10,19,15,22:100:100 +17 7581178 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=TP53;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/9;CSQ_Feature=NM_001126118.2;CSQ_HGVSc=NM_001126118.2:c.-262-1238C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.7581178G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.000387622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TP53:5UTR&TP53:5UTRint&TP53:5UTRinta;CSQ_CADD_PHRED=1.469 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,9:118:0.07627:65:-100:0.1259:2,2,1,2,0,2,25,27,10,19,15,22:100:100 +17 7979986 . GC G 100 PASS DP=115;CSQ_Allele=-;CSQ_SYMBOL=ALOX12B;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=10/15;CSQ_INTRON=.;CSQ_Feature=NM_001139.3;CSQ_HGVSc=NM_001139.3:c.1350del;CSQ_HGVSp=NP_001130.1:p.Leu451SerfsTer16;CSQ_HGVSg=17:g.7979993del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=995496;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_congenital_ichthyosis_2;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=149262;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59871270;CSQ_COSMICncMuts=COSV59871270;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,14:115:0.12174:65:-100:0:3,5,2,3,1,0,23,38,13,20,11,10:100:100 +17 7990719 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=ALOX12B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/15;CSQ_INTRON=.;CSQ_Feature=NM_001139.3;CSQ_HGVSc=NM_001139.3:c.42C>T;CSQ_HGVSp=NP_001130.1:p.Leu14%3D;CSQ_HGVSg=17:g.7990719G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=325930;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_recessive_congenital_ichthyosis_2¬_provided;CSQ_gnomADg_AC=1111;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0358873;CSQ_gnomADe_AC=2558;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.0103872;CSQ_gnomADe_Hom=138;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ALOX12B:L14L;CSQ_CADD_PHRED=7.095 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,13:119:0.10924:65:-100:0.2119:5,2,0,1,2,3,22,46,6,16,10,19:100:100 +17 8108331 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=AURKB;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_001256834.3;CSQ_HGVSc=NM_001256834.3:c.770T>C;CSQ_HGVSp=NP_001243763.1:p.Met257Thr;CSQ_HGVSg=17:g.8108331A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25079;CSQ_gnomADg_AN=30734;CSQ_gnomADg_AF=0.816002;CSQ_gnomADe_AC=191311;CSQ_gnomADe_AN=229894;CSQ_gnomADe_AF=0.83217;CSQ_gnomADe_Hom=80602;CSQ_COSMICcMuts=COSV60243948&COSV60243948&COSV60243948&COSV60243948&COSV60243948;CSQ_COSMICncMuts=COSV60243948&COSV60243948&COSV60243948&COSV60243948&COSV60243948&COSV60243948&COSV60243948;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=0.082;CSQ_Mastermind_MMID3=AURKB:M130T&AURKB:M146T&AURKB:M257T&AURKB:M258T&AURKB:M266T&AURKB:M298T&AURKB:M299T;CSQ_CADD_PHRED=0.768 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,122:137:0.89051:65:-100:0.1438:27,43,9,20,6,17,29,47,10,26,8,17:100:100 +17 8108331 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=AURKB;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001284526.2;CSQ_HGVSc=NM_001284526.2:c.896T>C;CSQ_HGVSp=NP_001271455.1:p.Met299Thr;CSQ_HGVSg=17:g.8108331A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25079;CSQ_gnomADg_AN=30734;CSQ_gnomADg_AF=0.816002;CSQ_gnomADe_AC=191311;CSQ_gnomADe_AN=229894;CSQ_gnomADe_AF=0.83217;CSQ_gnomADe_Hom=80602;CSQ_COSMICcMuts=COSV60243948&COSV60243948&COSV60243948&COSV60243948&COSV60243948;CSQ_COSMICncMuts=COSV60243948&COSV60243948&COSV60243948&COSV60243948&COSV60243948&COSV60243948&COSV60243948;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=0.082;CSQ_Mastermind_MMID3=AURKB:M130T&AURKB:M146T&AURKB:M257T&AURKB:M258T&AURKB:M266T&AURKB:M298T&AURKB:M299T;CSQ_CADD_PHRED=0.768 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,122:137:0.89051:65:-100:0.1438:27,43,9,20,6,17,29,47,10,26,8,17:100:100 +17 8108339 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=AURKB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_001256834.3;CSQ_HGVSc=NM_001256834.3:c.762C>T;CSQ_HGVSp=NP_001243763.1:p.Ser254%3D;CSQ_HGVSg=17:g.8108339G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19619;CSQ_gnomADg_AN=30662;CSQ_gnomADg_AF=0.639847;CSQ_gnomADe_AC=148353;CSQ_gnomADe_AN=225476;CSQ_gnomADe_AF=0.657955;CSQ_gnomADe_Hom=49153;CSQ_COSMICcMuts=COSV60243958&COSV60243958&COSV60243958&COSV60243958&COSV60243958;CSQ_COSMICncMuts=COSV60243958&COSV60243958&COSV60243958&COSV60243958&COSV60243958&COSV60243958&COSV60243958;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AURKB:S127S&AURKB:S143S&AURKB:S254S&AURKB:S255S&AURKB:S263S&AURKB:S295S&AURKB:S296S;CSQ_CADD_PHRED=0.703 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,110:135:0.81481:65:-100:0.1563:23,42,8,18,4,15,27,48,10,26,6,18:100:100 +17 8108339 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=AURKB;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001284526.2;CSQ_HGVSc=NM_001284526.2:c.888C>T;CSQ_HGVSp=NP_001271455.1:p.Ser296%3D;CSQ_HGVSg=17:g.8108339G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19619;CSQ_gnomADg_AN=30662;CSQ_gnomADg_AF=0.639847;CSQ_gnomADe_AC=148353;CSQ_gnomADe_AN=225476;CSQ_gnomADe_AF=0.657955;CSQ_gnomADe_Hom=49153;CSQ_COSMICcMuts=COSV60243958&COSV60243958&COSV60243958&COSV60243958&COSV60243958;CSQ_COSMICncMuts=COSV60243958&COSV60243958&COSV60243958&COSV60243958&COSV60243958&COSV60243958&COSV60243958;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AURKB:S127S&AURKB:S143S&AURKB:S254S&AURKB:S255S&AURKB:S263S&AURKB:S295S&AURKB:S296S;CSQ_CADD_PHRED=0.703 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,110:135:0.81481:65:-100:0.1563:23,42,8,18,4,15,27,48,10,26,6,18:100:100 +17 8108544 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=AURKB;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/8;CSQ_INTRON=.;CSQ_Feature=NM_001256834.3;CSQ_HGVSc=NM_001256834.3:c.728G>A;CSQ_HGVSp=NP_001243763.1:p.Arg243His;CSQ_HGVSg=17:g.8108544C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=3.23394e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60244374&COSV60244374&COSV60244374&COSV60244374&COSV60244374;CSQ_COSMICncMuts=COSV60244374&COSV60244374&COSV60244374&COSV60244374&COSV60244374&COSV60244374&COSV60244374;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.354;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,7:109:0.06422:65:-100:0.1679:2,4,0,0,0,1,20,42,5,18,7,17:79.777:100 +17 8108544 . C T 100 PASS DP=109;CSQ_Allele=T;CSQ_SYMBOL=AURKB;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/9;CSQ_INTRON=.;CSQ_Feature=NM_001284526.2;CSQ_HGVSc=NM_001284526.2:c.854G>A;CSQ_HGVSp=NP_001271455.1:p.Arg285His;CSQ_HGVSg=17:g.8108544C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=3.23394e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60244374&COSV60244374&COSV60244374&COSV60244374&COSV60244374;CSQ_COSMICncMuts=COSV60244374&COSV60244374&COSV60244374&COSV60244374&COSV60244374&COSV60244374&COSV60244374;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.354;CSQ_Mastermind_MMID3=AURKB:R284H&AURKB:R285H;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,7:109:0.06422:65:-100:0.1679:2,4,0,0,0,1,20,42,5,18,7,17:79.777:100 +17 15952298 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=40/45;CSQ_INTRON=.;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.6088C>T;CSQ_HGVSp=NP_001177369.1:p.Pro2030Ser;CSQ_HGVSg=17:g.15952298G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51962966&COSV51962966&COSV51962966;CSQ_COSMICncMuts=COSV51962966&COSV51962966&COSV51962966;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.299;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,9:102:0.08824:65:-100:0.1429:1,2,0,2,1,3,7,37,12,17,13,16:100:100 +17 15952298 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=41/46;CSQ_INTRON=.;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.6397C>T;CSQ_HGVSp=NP_006302.2:p.Pro2133Ser;CSQ_HGVSg=17:g.15952298G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51962966&COSV51962966&COSV51962966;CSQ_COSMICncMuts=COSV51962966&COSV51962966&COSV51962966;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.299;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,9:102:0.08824:65:-100:0.1429:1,2,0,2,1,3,7,37,12,17,13,16:100:100 +17 15961885 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=NCOR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=37/45;CSQ_INTRON=.;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.5601C>T;CSQ_HGVSp=NP_001177369.1:p.Ser1867%3D;CSQ_HGVSg=17:g.15961885G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245482;CSQ_gnomADe_AF=4.07362e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV51969401&COSV51969401&COSV51969401;CSQ_COSMICncMuts=COSV51969401&COSV51969401&COSV51969401&COSV51969401&COSV51969401;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOR1:S1867S;CSQ_CADD_PHRED=6.306 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,7:103:0.06796:65:-100:0.1825:2,2,2,0,1,0,18,29,14,19,10,13:89.217:100 +17 15961885 . G A 100 PASS DP=103;CSQ_Allele=A;CSQ_SYMBOL=NCOR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=38/46;CSQ_INTRON=.;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.5910C>T;CSQ_HGVSp=NP_006302.2:p.Ser1970%3D;CSQ_HGVSg=17:g.15961885G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245482;CSQ_gnomADe_AF=4.07362e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV51969401&COSV51969401&COSV51969401;CSQ_COSMICncMuts=COSV51969401&COSV51969401&COSV51969401&COSV51969401&COSV51969401;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.306 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,7:103:0.06796:65:-100:0.1825:2,2,2,0,1,0,18,29,14,19,10,13:89.217:100 +17 15965098 . TG T 100 PASS DP=110;CSQ_Allele=-;CSQ_SYMBOL=NCOR1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=36/45;CSQ_INTRON=.;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.5545del;CSQ_HGVSp=NP_001177369.1:p.Gln1849ArgfsTer24;CSQ_HGVSg=17:g.15965102del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51962976&COSV51962976&COSV51962976;CSQ_COSMICncMuts=COSV51962976&COSV51962976&COSV51962976&COSV51962976&COSV51962976;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,10:110:0.09091:65:-100:0:2,3,1,3,0,1,21,32,13,20,7,17:100:100 +17 15965098 . TG T 100 PASS DP=110;CSQ_Allele=-;CSQ_SYMBOL=NCOR1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=37/46;CSQ_INTRON=.;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.5497del;CSQ_HGVSp=NP_006302.2:p.Gln1833ArgfsTer17;CSQ_HGVSg=17:g.15965102del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51962976&COSV51962976&COSV51962976;CSQ_COSMICncMuts=COSV51962976&COSV51962976&COSV51962976&COSV51962976&COSV51962976;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,10:110:0.09091:65:-100:0:2,3,1,3,0,1,21,32,13,20,7,17:100:100 +17 15967451 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=34/45;CSQ_INTRON=.;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.5200C>T;CSQ_HGVSp=NP_001177369.1:p.Arg1734Trp;CSQ_HGVSg=17:g.15967451G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=6.45953e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=243726;CSQ_gnomADe_AF=8.20594e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV51969413&COSV51969413&COSV51969413;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.187;CSQ_Mastermind_MMID3=NCOR1:R1718W&NCOR1:R1734W;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,12:152:0.07895:65:-100:0.1006:3,4,2,2,0,1,26,52,15,22,14,23:100:100 +17 15967451 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=35/46;CSQ_INTRON=.;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.5152C>T;CSQ_HGVSp=NP_006302.2:p.Arg1718Trp;CSQ_HGVSg=17:g.15967451G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=6.45953e-05;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=243726;CSQ_gnomADe_AF=8.20594e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV51969413&COSV51969413&COSV51969413;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=36;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.187;CSQ_Mastermind_MMID3=NCOR1:R1718W&NCOR1:R1734W;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,12:152:0.07895:65:-100:0.1006:3,4,2,2,0,1,26,52,15,22,14,23:100:100 +17 15973661 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=30/45;CSQ_INTRON=.;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.4379T>C;CSQ_HGVSp=NP_001177369.1:p.Val1460Ala;CSQ_HGVSg=17:g.15973661A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51969428&COSV51969428&COSV51969428;CSQ_COSMICncMuts=COSV51969428&COSV51969428;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=0.078;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.05 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,7:142:0.0493:65:-100:0.1446:1,3,1,1,1,0,22,51,9,23,9,28:69.794:100 +17 15973661 . A G 100 PASS DP=142;CSQ_Allele=G;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=31/46;CSQ_INTRON=.;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.4331T>C;CSQ_HGVSp=NP_006302.2:p.Val1444Ala;CSQ_HGVSg=17:g.15973661A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51969428&COSV51969428&COSV51969428;CSQ_COSMICncMuts=COSV51969428&COSV51969428;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-15;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=0.078;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.05 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,7:142:0.0493:65:-100:0.1446:1,3,1,1,1,0,22,51,9,23,9,28:69.794:100 +17 15983843 . CAT C 100 PASS DP=113;CSQ_Allele=-;CSQ_SYMBOL=NCOR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=23/44;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.3347-22_3347-21del;CSQ_HGVSp=.;CSQ_HGVSg=17:g.15983844_15983845del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=507;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0163897;CSQ_gnomADe_AC=4447;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=0.0180623;CSQ_gnomADe_Hom=74;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOR1:A1100int&NCOR1:A1100inta&NCOR1:A1116int&NCOR1:A1116inta;CSQ_CADD_PHRED=11.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,9:113:0.07965:65:-100:0:1,3,1,1,2,1,20,42,7,17,12,15:100:100 +17 15983843 . CAT C 100 PASS DP=113;CSQ_Allele=-;CSQ_SYMBOL=NCOR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=24/45;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.3299-22_3299-21del;CSQ_HGVSp=.;CSQ_HGVSg=17:g.15983844_15983845del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=507;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0163897;CSQ_gnomADe_AC=4447;CSQ_gnomADe_AN=246204;CSQ_gnomADe_AF=0.0180623;CSQ_gnomADe_Hom=74;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.04;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOR1:A1100int&NCOR1:A1100inta&NCOR1:A1116int&NCOR1:A1116inta;CSQ_CADD_PHRED=11.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,9:113:0.07965:65:-100:0:1,3,1,1,2,1,20,42,7,17,12,15:100:100 +17 16004589 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/19;CSQ_INTRON=.;CSQ_Feature=NM_001190438.1;CSQ_HGVSc=NM_001190438.1:c.2386G>A;CSQ_HGVSp=NP_001177367.1:p.Val796Met;CSQ_HGVSg=17:g.16004589C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51969441&COSV51969441&COSV51969441;CSQ_COSMICncMuts=COSV51969441&COSV51969441;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=0.156;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,6:126:0.04762:65:-97.1625:0.1429:1,1,1,0,0,3,21,46,8,23,9,19:67.342:100 +17 16004589 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/45;CSQ_INTRON=.;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.2713G>A;CSQ_HGVSp=NP_001177369.1:p.Val905Met;CSQ_HGVSg=17:g.16004589C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51969441&COSV51969441&COSV51969441;CSQ_COSMICncMuts=COSV51969441&COSV51969441;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=0.156;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,6:126:0.04762:65:-97.1625:0.1429:1,1,1,0,0,3,21,46,8,23,9,19:67.342:100 +17 16004589 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=NCOR1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/46;CSQ_INTRON=.;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.2665G>A;CSQ_HGVSp=NP_006302.2:p.Val889Met;CSQ_HGVSg=17:g.16004589C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51969441&COSV51969441&COSV51969441;CSQ_COSMICncMuts=COSV51969441&COSV51969441;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=0.156;CSQ_Mastermind_MMID3=NCOR1:V889M;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,6:126:0.04762:65:-97.1625:0.1429:1,1,1,0,0,3,21,46,8,23,9,19:67.342:100 +17 16029456 . G GT 100 PASS DP=86;CSQ_Allele=T;CSQ_SYMBOL=NCOR1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=12/19;CSQ_INTRON=.;CSQ_Feature=NM_001190438.1;CSQ_HGVSc=NM_001190438.1:c.1246dup;CSQ_HGVSp=NP_001177367.1:p.Thr416AsnfsTer11;CSQ_HGVSg=17:g.16029462dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51959565&COSV51959565&COSV51959565;CSQ_COSMICncMuts=COSV51959565;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOR1:T525fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,18:86:0.2093:65:-100:0:4,4,4,2,2,2,15,23,14,10,14,12:100:100 +17 16029456 . G GT 100 PASS DP=86;CSQ_Allele=T;CSQ_SYMBOL=NCOR1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=14/45;CSQ_INTRON=.;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.1573dup;CSQ_HGVSp=NP_001177369.1:p.Thr525AsnfsTer11;CSQ_HGVSg=17:g.16029462dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51959565&COSV51959565&COSV51959565;CSQ_COSMICncMuts=COSV51959565;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOR1:T525fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,18:86:0.2093:65:-100:0:4,4,4,2,2,2,15,23,14,10,14,12:100:100 +17 16029456 . G GT 100 PASS DP=86;CSQ_Allele=T;CSQ_SYMBOL=NCOR1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=15/46;CSQ_INTRON=.;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.1573dup;CSQ_HGVSp=NP_006302.2:p.Thr525AsnfsTer11;CSQ_HGVSg=17:g.16029462dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51959565&COSV51959565&COSV51959565;CSQ_COSMICncMuts=COSV51959565;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOR1:T525fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,18:86:0.2093:65:-100:0:4,4,4,2,2,2,15,23,14,10,14,12:100:100 +17 16084985 . A AACAC 100 PASS DP=103;CSQ_Allele=ACAC;CSQ_SYMBOL=NCOR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/18;CSQ_Feature=NM_001190438.1;CSQ_HGVSc=NM_001190438.1:c.108+12787_108+12790dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.16084986_16084989dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14088;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.458295;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.306 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,13:103:0.12621:65:-100:0:4,1,0,4,1,3,26,28,9,23,5,13:100:100 +17 16084985 . A AACAC 100 PASS DP=103;CSQ_Allele=ACAC;CSQ_SYMBOL=NCOR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/44;CSQ_Feature=NM_001190440.1;CSQ_HGVSc=NM_001190440.1:c.242+4879_242+4882dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.16084986_16084989dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14088;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.458295;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.306 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,13:103:0.12621:65:-100:0:4,1,0,4,1,3,26,28,9,23,5,13:100:100 +17 16084985 . A AACAC 100 PASS DP=103;CSQ_Allele=ACAC;CSQ_SYMBOL=NCOR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/45;CSQ_Feature=NM_006311.4;CSQ_HGVSc=NM_006311.4:c.242+4879_242+4882dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.16084986_16084989dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14088;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.458295;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.306 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,13:103:0.12621:65:-100:0:4,1,0,4,1,3,26,28,9,23,5,13:100:100 +17 17119761 . C T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=FLCN;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_144606.7;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.17119761C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=96474;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_fibrofolliculomas&Familial_spontaneous_pneumothorax&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=970;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0313936;CSQ_gnomADe_AC=2488;CSQ_gnomADe_AN=244610;CSQ_gnomADe_AF=0.0101713;CSQ_gnomADe_Hom=108;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.600 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,13:125:0.104:65:-100:0.2138:1,4,1,4,0,3,18,39,14,20,19,15:100:100 +17 17119761 . C T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=FLCN;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/14;CSQ_INTRON=.;CSQ_Feature=NM_144997.7;CSQ_HGVSc=NM_144997.7:c.1233G>A;CSQ_HGVSp=NP_659434.2:p.Glu411%3D;CSQ_HGVSg=17:g.17119761C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=96474;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_fibrofolliculomas&Familial_spontaneous_pneumothorax&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=970;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0313936;CSQ_gnomADe_AC=2488;CSQ_gnomADe_AN=244610;CSQ_gnomADe_AF=0.0101713;CSQ_gnomADe_Hom=108;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLCN:E411E&FLCN:E429E;CSQ_CADD_PHRED=9.600 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,13:125:0.104:65:-100:0.2138:1,4,1,4,0,3,18,39,14,20,19,15:100:100 +17 17124815 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=FLCN;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_144606.7;CSQ_HGVSc=NM_144606.7:c.907G>A;CSQ_HGVSp=NP_653207.1:p.Gly303Arg;CSQ_HGVSg=17:g.17124815C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41861;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_fibrofolliculomas¬_specified¬_provided;CSQ_gnomADg_AC=2299;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0743003;CSQ_gnomADe_AC=16861;CSQ_gnomADe_AN=245936;CSQ_gnomADe_AF=0.0685585;CSQ_gnomADe_Hom=952;CSQ_COSMICcMuts=COSV53258025&COSV53258025;CSQ_COSMICncMuts=COSV53258025&COSV53258025&COSV53258025&COSV53258025&COSV53258025&COSV53258025;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=0.235;CSQ_Mastermind_MMID3=FLCN:D291int&FLCN:D291intd&FLCN:D309int&FLCN:D309intd&FLCN:G303R;CSQ_CADD_PHRED=0.544 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,41:152:0.26974:65:-100:0.1694:8,9,4,9,3,8,34,47,12,23,6,30:100:100 +17 17124815 . C T 100 PASS DP=152;CSQ_Allele=T;CSQ_SYMBOL=FLCN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/13;CSQ_Feature=NM_144997.7;CSQ_HGVSc=NM_144997.7:c.871+36G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.17124815C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41861;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multiple_fibrofolliculomas¬_specified¬_provided;CSQ_gnomADg_AC=2299;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0743003;CSQ_gnomADe_AC=16861;CSQ_gnomADe_AN=245936;CSQ_gnomADe_AF=0.0685585;CSQ_gnomADe_Hom=952;CSQ_COSMICcMuts=COSV53258025&COSV53258025;CSQ_COSMICncMuts=COSV53258025&COSV53258025&COSV53258025&COSV53258025&COSV53258025&COSV53258025;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLCN:D291int&FLCN:D291intd&FLCN:D309int&FLCN:D309intd&FLCN:G303R;CSQ_CADD_PHRED=0.544 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,41:152:0.26974:65:-100:0.1694:8,9,4,9,3,8,34,47,12,23,6,30:100:100 +17 17129431 . A G 100 PASS DP=124;CSQ_Allele=G;CSQ_SYMBOL=FLCN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/7;CSQ_Feature=NM_144606.7;CSQ_HGVSc=NM_144606.7:c.396+59T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.17129431A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41858;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1785;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.0577558;CSQ_gnomADe_AC=18427;CSQ_gnomADe_AN=239574;CSQ_gnomADe_AF=0.0769157;CSQ_gnomADe_Hom=873;CSQ_COSMICcMuts=COSV53258660&COSV53258660;CSQ_COSMICncMuts=COSV53258660&COSV53258660&COSV53258660;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLCN:E132int&FLCN:E132intd;CSQ_CADD_PHRED=7.647 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,7:124:0.05645:65:-100:0.1565:1,2,0,2,1,1,21,27,21,21,9,25:65.387:100 +17 17129431 . A G 100 PASS DP=124;CSQ_Allele=G;CSQ_SYMBOL=FLCN;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_144997.7;CSQ_HGVSc=NM_144997.7:c.396+59T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.17129431A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41858;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1785;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.0577558;CSQ_gnomADe_AC=18427;CSQ_gnomADe_AN=239574;CSQ_gnomADe_AF=0.0769157;CSQ_gnomADe_Hom=873;CSQ_COSMICcMuts=COSV53258660&COSV53258660;CSQ_COSMICncMuts=COSV53258660&COSV53258660&COSV53258660;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=FLCN:E132int&FLCN:E132intd;CSQ_CADD_PHRED=7.647 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,7:124:0.05645:65:-100:0.1565:1,2,0,2,1,1,21,27,21,21,9,25:65.387:100 +17 17948475 . G A 100 PASS DP=109;CSQ_Allele=A;CSQ_SYMBOL=GID4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_024052.5;CSQ_HGVSc=NM_024052.5:c.453G>A;CSQ_HGVSp=NP_076957.3:p.Gly151%3D;CSQ_HGVSg=17:g.17948475G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17218;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.557433;CSQ_gnomADe_AC=128009;CSQ_gnomADe_AN=245632;CSQ_gnomADe_AF=0.521141;CSQ_gnomADe_Hom=37740;CSQ_COSMICcMuts=COSV52008979&COSV52008979;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GID4:G151G;CSQ_CADD_PHRED=11.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,47:109:0.43119:65:-100:0.1615:12,19,2,4,4,6,27,37,6,12,9,18:100:100 +17 29483108 . C T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=NF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/57;CSQ_INTRON=.;CSQ_Feature=NM_000267.3;CSQ_HGVSc=NM_000267.3:c.168C>T;CSQ_HGVSp=NP_000258.1:p.Ser56%3D;CSQ_HGVSg=17:g.29483108C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=184126;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neurofibromatosis&_familial_spinal&Café-au-lait_macules_with_pulmonary_stenosis&Neurofibromatosis-Noonan_syndrome&Hereditary_cancer-predisposing_syndrome&Neurofibromatosis&_type_1¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=472;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.0152731;CSQ_gnomADe_AC=2931;CSQ_gnomADe_AN=245988;CSQ_gnomADe_AF=0.0119152;CSQ_gnomADe_Hom=27;CSQ_COSMICcMuts=COSV62213488&COSV62213488&COSV62213488;CSQ_COSMICncMuts=COSV62213488;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NF1:S56S;CSQ_CADD_PHRED=9.271 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,6:125:0.048:65:-97.8929:0.1007:1,3,1,0,0,1,19,32,9,28,16,21:62.093:100 +17 29483108 . C T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=NF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/58;CSQ_INTRON=.;CSQ_Feature=NM_001042492.3;CSQ_HGVSc=NM_001042492.3:c.168C>T;CSQ_HGVSp=NP_001035957.1:p.Ser56%3D;CSQ_HGVSg=17:g.29483108C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=184126;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neurofibromatosis&_familial_spinal&Café-au-lait_macules_with_pulmonary_stenosis&Neurofibromatosis-Noonan_syndrome&Hereditary_cancer-predisposing_syndrome&Neurofibromatosis&_type_1¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=472;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.0152731;CSQ_gnomADe_AC=2931;CSQ_gnomADe_AN=245988;CSQ_gnomADe_AF=0.0119152;CSQ_gnomADe_Hom=27;CSQ_COSMICcMuts=COSV62213488&COSV62213488&COSV62213488;CSQ_COSMICncMuts=COSV62213488;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NF1:S56S;CSQ_CADD_PHRED=9.271 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,6:125:0.048:65:-97.8929:0.1007:1,3,1,0,0,1,19,32,9,28,16,21:62.093:100 +17 29508775 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=NF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/57;CSQ_INTRON=.;CSQ_Feature=NM_000267.3;CSQ_HGVSc=NM_000267.3:c.702G>A;CSQ_HGVSp=NP_000258.1:p.Leu234%3D;CSQ_HGVSg=17:g.29508775G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=183825;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neurofibromatosis&_familial_spinal&Café-au-lait_macules_with_pulmonary_stenosis&Neurofibromatosis-Noonan_syndrome&Hereditary_cancer-predisposing_syndrome&Neurofibromatosis&_type_1¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=17102;CSQ_gnomADg_AN=30524;CSQ_gnomADg_AF=0.56028;CSQ_gnomADe_AC=154487;CSQ_gnomADe_AN=246018;CSQ_gnomADe_AF=0.62795;CSQ_gnomADe_Hom=50357;CSQ_COSMICcMuts=COSV62193259&COSV62193259&COSV62193259;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NF1:L234L;CSQ_CADD_PHRED=2.749 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,69:129:0.53488:65:-100:0.1887:15,13,9,16,5,11,26,35,13,27,8,20:100:100 +17 29508775 . G A 100 PASS DP=129;CSQ_Allele=A;CSQ_SYMBOL=NF1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/58;CSQ_INTRON=.;CSQ_Feature=NM_001042492.3;CSQ_HGVSc=NM_001042492.3:c.702G>A;CSQ_HGVSp=NP_001035957.1:p.Leu234%3D;CSQ_HGVSg=17:g.29508775G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=183825;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neurofibromatosis&_familial_spinal&Café-au-lait_macules_with_pulmonary_stenosis&Neurofibromatosis-Noonan_syndrome&Hereditary_cancer-predisposing_syndrome&Neurofibromatosis&_type_1¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=17102;CSQ_gnomADg_AN=30524;CSQ_gnomADg_AF=0.56028;CSQ_gnomADe_AC=154487;CSQ_gnomADe_AN=246018;CSQ_gnomADe_AF=0.62795;CSQ_gnomADe_Hom=50357;CSQ_COSMICcMuts=COSV62193259&COSV62193259&COSV62193259;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NF1:L234L;CSQ_CADD_PHRED=2.749 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:60,69:129:0.53488:65:-100:0.1887:15,13,9,16,5,11,26,35,13,27,8,20:100:100 +17 29528154 . C A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=NF1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/57;CSQ_INTRON=.;CSQ_Feature=NM_000267.3;CSQ_HGVSc=NM_000267.3:c.1162C>A;CSQ_HGVSp=NP_000258.1:p.Pro388Thr;CSQ_HGVSg=17:g.29528154C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62192045&COSV62192045&COSV62192045;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.664;CSQ_Mastermind_MMID3=NF1:P388T;CSQ_CADD_PHRED=25.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-48.0981:0.1702:0,2,0,0,3,1,27,27,5,21,13,24:62.244:100 +17 29528154 . C A 100 PASS DP=117;CSQ_Allele=A;CSQ_SYMBOL=NF1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/58;CSQ_INTRON=.;CSQ_Feature=NM_001042492.3;CSQ_HGVSc=NM_001042492.3:c.1162C>A;CSQ_HGVSp=NP_001035957.1:p.Pro388Thr;CSQ_HGVSg=17:g.29528154C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62192045&COSV62192045&COSV62192045;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.664;CSQ_Mastermind_MMID3=NF1:P388T;CSQ_CADD_PHRED=25.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,6:117:0.05128:65:-48.0981:0.1702:0,2,0,0,3,1,27,27,5,21,13,24:62.244:100 +17 29552143 . CT C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=NF1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=17/57;CSQ_INTRON=.;CSQ_Feature=NM_000267.3;CSQ_HGVSc=NM_000267.3:c.1882del;CSQ_HGVSp=NP_000258.1:p.Tyr628ThrfsTer3;CSQ_HGVSg=17:g.29552149del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=1213688;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Café-au-lait_macules_with_pulmonary_stenosis&Neurofibromatosis&_type_1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62194554&COSV62194554;CSQ_COSMICncMuts=COSV62194554;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.09;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,16:127:0.12598:65:-100:0:3,5,2,5,0,1,30,48,7,21,4,17:100:100 +17 29552143 . CT C 100 PASS DP=127;CSQ_Allele=-;CSQ_SYMBOL=NF1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=17/58;CSQ_INTRON=.;CSQ_Feature=NM_001042492.3;CSQ_HGVSc=NM_001042492.3:c.1882del;CSQ_HGVSp=NP_001035957.1:p.Tyr628ThrfsTer3;CSQ_HGVSg=17:g.29552149del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=1213688;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Café-au-lait_macules_with_pulmonary_stenosis&Neurofibromatosis&_type_1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62194554&COSV62194554;CSQ_COSMICncMuts=COSV62194554;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.09;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,16:127:0.12598:65:-100:0:3,5,2,5,0,1,30,48,7,21,4,17:100:100 +17 29667619 . CA C 100 PASS DP=128;CSQ_Allele=-;CSQ_SYMBOL=NF1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=46/57;CSQ_INTRON=.;CSQ_Feature=NM_000267.3;CSQ_HGVSc=NM_000267.3:c.6959del;CSQ_HGVSp=NP_000258.1:p.Asn2320ThrfsTer5;CSQ_HGVSg=17:g.29667623del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62194574&COSV62194574&COSV62194574&COSV62194574;CSQ_COSMICncMuts=COSV62194574&COSV62194574&COSV62194574;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.26;CSQ_SpliceAI_pred_DS_DL=0.11;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,12:128:0.09375:65:-100:0:2,5,0,1,1,3,21,44,12,21,13,17:100:100 +17 29667619 . CA C 100 PASS DP=128;CSQ_Allele=-;CSQ_SYMBOL=NF1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=47/58;CSQ_INTRON=.;CSQ_Feature=NM_001042492.3;CSQ_HGVSc=NM_001042492.3:c.7022del;CSQ_HGVSp=NP_001035957.1:p.Asn2341ThrfsTer5;CSQ_HGVSg=17:g.29667623del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV62194574&COSV62194574&COSV62194574&COSV62194574;CSQ_COSMICncMuts=COSV62194574&COSV62194574&COSV62194574;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.26;CSQ_SpliceAI_pred_DS_DL=0.11;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,12:128:0.09375:65:-100:0:2,5,0,1,1,3,21,44,12,21,13,17:100:100 +17 30310119 . G T 100 PASS DP=91;CSQ_Allele=T;CSQ_SYMBOL=SUZ12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/16;CSQ_INTRON=.;CSQ_Feature=NM_015355.4;CSQ_HGVSc=NM_015355.4:c.1019G>T;CSQ_HGVSp=NP_056170.2:p.Gly340Val;CSQ_HGVSg=17:g.30310119G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=0.465;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,5:91:0.05495:65:-99.5684:0.1727:1,1,1,1,0,1,15,30,9,14,11,12:67.325:100 +17 30321697 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=SUZ12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/16;CSQ_INTRON=.;CSQ_Feature=NM_015355.4;CSQ_HGVSc=NM_015355.4:c.1552G>A;CSQ_HGVSp=NP_056170.2:p.Gly518Arg;CSQ_HGVSg=17:g.30321697G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59500620&COSV59500620;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-50;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=0.533;CSQ_Mastermind_MMID3=SUZ12:G518R;CSQ_CADD_PHRED=24.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,7:113:0.06195:65:-97.7418:0.163:1,2,0,2,0,2,19,33,10,26,7,18:74.677:100 +17 33444045 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=RAD51D;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001142571.2;CSQ_HGVSc=NM_001142571.2:c.156G>A;CSQ_HGVSp=NP_001136043.1:p.Ala52%3D;CSQ_HGVSg=17:g.33444045C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=11;CSQ_gnomADe_AN=244920;CSQ_gnomADe_AF=4.49126e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV50101699&COSV50101699&COSV50101699&COSV50101699&COSV50101699&COSV50101699&COSV50101699&COSV50101699;CSQ_COSMICncMuts=COSV50101699;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.555 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,6:128:0.04688:65:-48.7675:0.1293:1,4,0,0,0,1,22,44,11,20,7,24:67.409:100 +17 33444045 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=RAD51D;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/9;CSQ_Feature=NM_002878.4;CSQ_HGVSc=NM_002878.4:c.263+1475G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.33444045C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=11;CSQ_gnomADe_AN=244920;CSQ_gnomADe_AF=4.49126e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV50101699&COSV50101699&COSV50101699&COSV50101699&COSV50101699&COSV50101699&COSV50101699&COSV50101699;CSQ_COSMICncMuts=COSV50101699;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.555 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,6:128:0.04688:65:-48.7675:0.1293:1,4,0,0,0,1,22,44,11,20,7,24:67.409:100 +17 33445549 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=RAD51D;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/9;CSQ_Feature=NM_001142571.2;CSQ_HGVSc=NM_001142571.2:c.144+581C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.33445549G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183785;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5013;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.162359;CSQ_gnomADe_AC=28515;CSQ_gnomADe_AN=246234;CSQ_gnomADe_AF=0.115804;CSQ_gnomADe_Hom=2171;CSQ_COSMICcMuts=COSV99338663&COSV99338663&COSV99338663&COSV99338663&COSV99338663&COSV99338663&COSV99338663&COSV99338663;CSQ_COSMICncMuts=COSV99338663;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAD51D:K48int&RAD51D:K48intd&RAD51D:S78S;CSQ_CADD_PHRED=17.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,28:156:0.17949:65:-100:0.1086:4,10,1,5,0,8,40,54,8,27,3,24:100:100 +17 33445549 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=RAD51D;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_002878.4;CSQ_HGVSc=NM_002878.4:c.234C>T;CSQ_HGVSp=NP_002869.3:p.Ser78%3D;CSQ_HGVSg=17:g.33445549G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183785;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5013;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.162359;CSQ_gnomADe_AC=28515;CSQ_gnomADe_AN=246234;CSQ_gnomADe_AF=0.115804;CSQ_gnomADe_Hom=2171;CSQ_COSMICcMuts=COSV99338663&COSV99338663&COSV99338663&COSV99338663&COSV99338663&COSV99338663&COSV99338663&COSV99338663;CSQ_COSMICncMuts=COSV99338663;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RAD51D:K48int&RAD51D:K48intd&RAD51D:S78S;CSQ_CADD_PHRED=17.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,28:156:0.17949:65:-100:0.1086:4,10,1,5,0,8,40,54,8,27,3,24:100:100 +17 37619073 . C A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=CDK12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/14;CSQ_INTRON=.;CSQ_Feature=NM_015083.4;CSQ_HGVSc=NM_015083.4:c.749C>A;CSQ_HGVSp=NP_055898.1:p.Pro250His;CSQ_HGVSg=17:g.37619073C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV71000015&COSV71000015;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=0.198;CSQ_Mastermind_MMID3=CDK12:P250H;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,7:155:0.04516:65:-97.0235:0.1389:1,4,1,0,1,0,26,60,9,21,16,23:72.424:100 +17 37619073 . C A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=CDK12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/14;CSQ_INTRON=.;CSQ_Feature=NM_016507.4;CSQ_HGVSc=NM_016507.4:c.749C>A;CSQ_HGVSp=NP_057591.2:p.Pro250His;CSQ_HGVSg=17:g.37619073C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV71000015&COSV71000015;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=0.198;CSQ_Mastermind_MMID3=CDK12:P250H;CSQ_CADD_PHRED=25.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,7:155:0.04516:65:-97.0235:0.1389:1,4,1,0,1,0,26,60,9,21,16,23:72.424:100 +17 37650892 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=CDK12;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/14;CSQ_INTRON=.;CSQ_Feature=NM_015083.4;CSQ_HGVSc=NM_015083.4:c.2364C>T;CSQ_HGVSp=NP_055898.1:p.Asn788%3D;CSQ_HGVSg=17:g.37650892C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV71002481&COSV71002481;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDK12:N788N;CSQ_CADD_PHRED=12.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,10:149:0.06711:65:-100:0.1078:1,4,2,1,1,1,24,46,13,22,20,24:100:100 +17 37650892 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=CDK12;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/14;CSQ_INTRON=.;CSQ_Feature=NM_016507.4;CSQ_HGVSc=NM_016507.4:c.2364C>T;CSQ_HGVSp=NP_057591.2:p.Asn788%3D;CSQ_HGVSg=17:g.37650892C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV71002481&COSV71002481;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CDK12:N788N;CSQ_CADD_PHRED=12.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,10:149:0.06711:65:-100:0.1078:1,4,2,1,1,1,24,46,13,22,20,24:100:100 +17 37686920 . C T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=CDK12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_015083.4;CSQ_HGVSc=NM_015083.4:c.3797C>T;CSQ_HGVSp=NP_055898.1:p.Pro1266Leu;CSQ_HGVSg=17:g.37686920C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133863;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome¬_specified;CSQ_gnomADg_AC=320;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.01035;CSQ_gnomADe_AC=2819;CSQ_gnomADe_AN=243570;CSQ_gnomADe_AF=0.0115737;CSQ_gnomADe_Hom=28;CSQ_COSMICcMuts=COSV71002230&COSV71002230;CSQ_COSMICncMuts=COSV71002230;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=0.258;CSQ_Mastermind_MMID3=CDK12:P1266L&CDK12:P1275L;CSQ_CADD_PHRED=24.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,8:110:0.07273:65:-100:0.4086:2,3,0,1,1,1,22,22,8,20,11,27:79.693:100 +17 37686920 . C T 100 PASS DP=110;CSQ_Allele=T;CSQ_SYMBOL=CDK12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_016507.4;CSQ_HGVSc=NM_016507.4:c.3824C>T;CSQ_HGVSp=NP_057591.2:p.Pro1275Leu;CSQ_HGVSg=17:g.37686920C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133863;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome¬_specified;CSQ_gnomADg_AC=320;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.01035;CSQ_gnomADe_AC=2819;CSQ_gnomADe_AN=243570;CSQ_gnomADe_AF=0.0115737;CSQ_gnomADe_Hom=28;CSQ_COSMICcMuts=COSV71002230&COSV71002230;CSQ_COSMICncMuts=COSV71002230;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=0.258;CSQ_Mastermind_MMID3=CDK12:P1266L&CDK12:P1275L;CSQ_CADD_PHRED=24.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,8:110:0.07273:65:-100:0.4086:2,3,0,1,1,1,22,22,8,20,11,27:79.693:100 +17 37850777 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=ERBB2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/30;CSQ_Feature=NM_001289936.2;CSQ_HGVSc=NM_001289936.2:c.-217-464C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37850777C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3538;CSQ_gnomADg_AN=30388;CSQ_gnomADg_AF=0.116428;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.817 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,14:112:0.125:65:-100:0.1385:1,5,2,3,1,2,20,28,13,21,13,17:100:100 +17 37850777 . C T 100 PASS DP=112;CSQ_Allele=T;CSQ_SYMBOL=ERBB2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/17;CSQ_Feature=NM_001289938.2;CSQ_HGVSc=NM_001289938.2:c.-211-464C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37850777C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3538;CSQ_gnomADg_AN=30388;CSQ_gnomADg_AF=0.116428;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.817 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,14:112:0.125:65:-100:0.1385:1,5,2,3,1,2,20,28,13,21,13,17:100:100 +17 37855841 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=ERBB2;CSQ_Consequence=splice_donor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=5/30;CSQ_Feature=NM_001289936.2;CSQ_HGVSc=NM_001289936.2:c.28+1G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37855841G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB2:V10sd;CSQ_CADD_PHRED=12.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,19:132:0.14394:65:-100:0.1484:3,7,2,5,1,1,29,33,17,31,7,15:100:100 +17 37855841 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=ERBB2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/17;CSQ_Feature=NM_001289938.2;CSQ_HGVSc=NM_001289938.2:c.-18+4407G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37855841G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB2:V10sd;CSQ_CADD_PHRED=12.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,19:132:0.14394:65:-100:0.1484:3,7,2,5,1,1,29,33,17,31,7,15:100:100 +17 37855841 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=ERBB2;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_004448.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37855841G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,19:132:0.14394:65:-100:0.1484:3,7,2,5,1,1,29,33,17,31,7,15:100:100 +17 37855841 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=ERBB2;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NR_110535.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37855841G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,19:132:0.14394:65:-100:0.1484:3,7,2,5,1,1,29,33,17,31,7,15:100:100 +17 37865659 . C T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ERBB2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/31;CSQ_INTRON=.;CSQ_Feature=NM_001289936.2;CSQ_HGVSc=NM_001289936.2:c.483C>T;CSQ_HGVSp=NP_001276865.1:p.Asn161%3D;CSQ_HGVSg=17:g.37865659C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=775162;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=199;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.00644138;CSQ_gnomADe_AC=2068;CSQ_gnomADe_AN=246258;CSQ_gnomADe_AF=0.0083977;CSQ_gnomADe_Hom=12;CSQ_COSMICcMuts=COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898;CSQ_COSMICncMuts=COSV54074898&COSV54074898&COSV54074898;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB2:D25int&ERBB2:D25inta&ERBB2:E147int&ERBB2:E147inta&ERBB2:N146N&ERBB2:N161N&ERBB2:N173N&ERBB2:N176N&ERBB2:N201N;CSQ_CADD_PHRED=11.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,19:172:0.11047:65:-100:0.165:0,11,1,3,2,2,22,62,20,25,13,30:100:100 +17 37865659 . C T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ERBB2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/18;CSQ_INTRON=.;CSQ_Feature=NM_001289938.2;CSQ_HGVSc=NM_001289938.2:c.438C>T;CSQ_HGVSp=NP_001276867.1:p.Asn146%3D;CSQ_HGVSg=17:g.37865659C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=775162;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=199;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.00644138;CSQ_gnomADe_AC=2068;CSQ_gnomADe_AN=246258;CSQ_gnomADe_AF=0.0083977;CSQ_gnomADe_Hom=12;CSQ_COSMICcMuts=COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898;CSQ_COSMICncMuts=COSV54074898&COSV54074898&COSV54074898;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB2:D25int&ERBB2:D25inta&ERBB2:E147int&ERBB2:E147inta&ERBB2:N146N&ERBB2:N161N&ERBB2:N173N&ERBB2:N176N&ERBB2:N201N;CSQ_CADD_PHRED=11.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,19:172:0.11047:65:-100:0.165:0,11,1,3,2,2,22,62,20,25,13,30:100:100 +17 37865659 . C T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ERBB2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/27;CSQ_INTRON=.;CSQ_Feature=NM_004448.4;CSQ_HGVSc=NM_004448.4:c.528C>T;CSQ_HGVSp=NP_004439.2:p.Asn176%3D;CSQ_HGVSg=17:g.37865659C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=775162;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=199;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.00644138;CSQ_gnomADe_AC=2068;CSQ_gnomADe_AN=246258;CSQ_gnomADe_AF=0.0083977;CSQ_gnomADe_Hom=12;CSQ_COSMICcMuts=COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898;CSQ_COSMICncMuts=COSV54074898&COSV54074898&COSV54074898;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERBB2:D25int&ERBB2:D25inta&ERBB2:E147int&ERBB2:E147inta&ERBB2:N146N&ERBB2:N161N&ERBB2:N173N&ERBB2:N176N&ERBB2:N201N;CSQ_CADD_PHRED=11.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,19:172:0.11047:65:-100:0.165:0,11,1,3,2,2,22,62,20,25,13,30:100:100 +17 37865659 . C T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=ERBB2;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/27;CSQ_INTRON=.;CSQ_Feature=NR_110535.2;CSQ_HGVSc=NR_110535.2:n.766C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37865659C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=775162;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=199;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.00644138;CSQ_gnomADe_AC=2068;CSQ_gnomADe_AN=246258;CSQ_gnomADe_AF=0.0083977;CSQ_gnomADe_Hom=12;CSQ_COSMICcMuts=COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898&COSV54074898;CSQ_COSMICncMuts=COSV54074898&COSV54074898&COSV54074898;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,19:172:0.11047:65:-100:0.165:0,11,1,3,2,2,22,62,20,25,13,30:100:100 +17 37879588 . A G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=ERBB2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/31;CSQ_INTRON=.;CSQ_Feature=NM_001289936.2;CSQ_HGVSc=NM_001289936.2:c.1918A>G;CSQ_HGVSp=NP_001276865.1:p.Ile640Val;CSQ_HGVSg=17:g.37879588A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=13873;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=ERBB2_POLYMORPHISM&Lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=5749;CSQ_gnomADg_AN=30652;CSQ_gnomADg_AF=0.187557;CSQ_gnomADe_AC=48629;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=0.19756;CSQ_gnomADe_Hom=5496;CSQ_COSMICcMuts=COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262;CSQ_COSMICncMuts=COSV54062262&COSV54062262;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.209;CSQ_Mastermind_MMID3=ERBB2:I379V&ERBB2:I569V&ERBB2:I595V&ERBB2:I625V&ERBB2:I639V&ERBB2:I640V&ERBB2:I652V&ERBB2:I654V&ERBB2:I655V&ERBB2:I662V&ERBB2:I665V&ERBB2:I680V&ERBB2:I689V&ERBB2:I694V&ERBB2:V408int&ERBB2:V408inta;CSQ_CADD_PHRED=19.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,19:165:0.11515:65:-100:0.175:4,7,1,3,2,2,24,46,17,26,19,33:100:100 +17 37879588 . A G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=ERBB2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/27;CSQ_INTRON=.;CSQ_Feature=NM_004448.4;CSQ_HGVSc=NM_004448.4:c.1963A>G;CSQ_HGVSp=NP_004439.2:p.Ile655Val;CSQ_HGVSg=17:g.37879588A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=13873;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=ERBB2_POLYMORPHISM&Lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=5749;CSQ_gnomADg_AN=30652;CSQ_gnomADg_AF=0.187557;CSQ_gnomADe_AC=48629;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=0.19756;CSQ_gnomADe_Hom=5496;CSQ_COSMICcMuts=COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262;CSQ_COSMICncMuts=COSV54062262&COSV54062262;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.209;CSQ_Mastermind_MMID3=ERBB2:I379V&ERBB2:I569V&ERBB2:I595V&ERBB2:I625V&ERBB2:I639V&ERBB2:I640V&ERBB2:I652V&ERBB2:I654V&ERBB2:I655V&ERBB2:I662V&ERBB2:I665V&ERBB2:I680V&ERBB2:I689V&ERBB2:I694V&ERBB2:V408int&ERBB2:V408inta;CSQ_CADD_PHRED=19.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,19:165:0.11515:65:-100:0.175:4,7,1,3,2,2,24,46,17,26,19,33:100:100 +17 37879588 . A G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=ERBB2;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=17/27;CSQ_INTRON=.;CSQ_Feature=NR_110535.2;CSQ_HGVSc=NR_110535.2:n.2201A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37879588A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=13873;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=ERBB2_POLYMORPHISM&Lung_cancer¬_specified¬_provided;CSQ_gnomADg_AC=5749;CSQ_gnomADg_AN=30652;CSQ_gnomADg_AF=0.187557;CSQ_gnomADe_AC=48629;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=0.19756;CSQ_gnomADe_Hom=5496;CSQ_COSMICcMuts=COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262&COSV54062262;CSQ_COSMICncMuts=COSV54062262&COSV54062262;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.96 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,19:165:0.11515:65:-100:0.175:4,7,1,3,2,2,24,46,17,26,19,33:100:100 +17 37884037 . C G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=ERBB2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=31/31;CSQ_INTRON=.;CSQ_Feature=NM_001289936.2;CSQ_HGVSc=NM_001289936.2:c.3463C>G;CSQ_HGVSp=NP_001276865.1:p.Pro1155Ala;CSQ_HGVSg=17:g.37884037C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134082;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=15824;CSQ_gnomADg_AN=30792;CSQ_gnomADg_AF=0.5139;CSQ_gnomADe_AC=149768;CSQ_gnomADe_AN=244816;CSQ_gnomADe_AF=0.611757;CSQ_gnomADe_Hom=48130;CSQ_COSMICcMuts=COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104;CSQ_COSMICncMuts=COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.254;CSQ_Mastermind_MMID3=ERBB2:3UTR&ERBB2:P1084A&ERBB2:P1102A&ERBB2:P1108A&ERBB2:P1110A&ERBB2:P1118A&ERBB2:P1137A&ERBB2:P1140A&ERBB2:P1141A&ERBB2:P1154A&ERBB2:P1155A&ERBB2:P1156A&ERBB2:P1158A&ERBB2:P1167A&ERBB2:P1169A&ERBB2:P1170A&ERBB2:P1177A&ERBB2:P1180A&ERBB2:P1195A&ERBB2:P1197A&ERBB2:P1204A&ERBB2:P1209A&ERBB2:P824A&ERBB2:P853A&ERBB2:P894A;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,73:160:0.45625:65:-100:0.1061:10,28,6,10,9,10,27,56,15,25,15,22:100:100 +17 37884037 . C G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=ERBB2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=27/27;CSQ_INTRON=.;CSQ_Feature=NM_004448.4;CSQ_HGVSc=NM_004448.4:c.3508C>G;CSQ_HGVSp=NP_004439.2:p.Pro1170Ala;CSQ_HGVSg=17:g.37884037C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134082;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=15824;CSQ_gnomADg_AN=30792;CSQ_gnomADg_AF=0.5139;CSQ_gnomADe_AC=149768;CSQ_gnomADe_AN=244816;CSQ_gnomADe_AF=0.611757;CSQ_gnomADe_Hom=48130;CSQ_COSMICcMuts=COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104;CSQ_COSMICncMuts=COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.254;CSQ_Mastermind_MMID3=ERBB2:3UTR&ERBB2:P1084A&ERBB2:P1102A&ERBB2:P1108A&ERBB2:P1110A&ERBB2:P1118A&ERBB2:P1137A&ERBB2:P1140A&ERBB2:P1141A&ERBB2:P1154A&ERBB2:P1155A&ERBB2:P1156A&ERBB2:P1158A&ERBB2:P1167A&ERBB2:P1169A&ERBB2:P1170A&ERBB2:P1177A&ERBB2:P1180A&ERBB2:P1195A&ERBB2:P1197A&ERBB2:P1204A&ERBB2:P1209A&ERBB2:P824A&ERBB2:P853A&ERBB2:P894A;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,73:160:0.45625:65:-100:0.1061:10,28,6,10,9,10,27,56,15,25,15,22:100:100 +17 37884037 . C G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=ERBB2;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=27/27;CSQ_INTRON=.;CSQ_Feature=NR_110535.2;CSQ_HGVSc=NR_110535.2:n.3746C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.37884037C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134082;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=15824;CSQ_gnomADg_AN=30792;CSQ_gnomADg_AF=0.5139;CSQ_gnomADe_AC=149768;CSQ_gnomADe_AN=244816;CSQ_gnomADe_AF=0.611757;CSQ_gnomADe_Hom=48130;CSQ_COSMICcMuts=COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104;CSQ_COSMICncMuts=COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104&COSV54064104;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,73:160:0.45625:65:-100:0.1061:10,28,6,10,9,10,27,56,15,25,15,22:100:100 +17 38546219 . T C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=TOP2A;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=34/35;CSQ_INTRON=.;CSQ_Feature=NM_001067.4;CSQ_HGVSc=NM_001067.4:c.4465A>G;CSQ_HGVSp=NP_001058.2:p.Lys1489Glu;CSQ_HGVSg=17:g.38546219T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV68502975;CSQ_COSMICncMuts=COSV68502975&COSV68502975;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.248;CSQ_Mastermind_MMID3=TOP2A:K1489E&TOP2A:K1489srd;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,14:151:0.09272:65:-100:0.0904:2,4,3,1,1,3,21,50,14,30,13,23:100:100 +17 38546274 . A C 100 PASS DP=149;CSQ_Allele=C;CSQ_SYMBOL=TOP2A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=34/35;CSQ_INTRON=.;CSQ_Feature=NM_001067.4;CSQ_HGVSc=NM_001067.4:c.4410T>G;CSQ_HGVSp=NP_001058.2:p.Thr1470%3D;CSQ_HGVSg=17:g.38546274A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=359;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0115904;CSQ_gnomADe_AC=2849;CSQ_gnomADe_AN=245996;CSQ_gnomADe_AF=0.0115815;CSQ_gnomADe_Hom=24;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-44;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.539 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,6:149:0.04027:65:-95.7439:0.097:0,3,0,1,1,1,20,52,14,24,15,24:72.029:100 +17 38562730 . G GTGCT 100 PASS DP=139;CSQ_Allele=TGCT;CSQ_SYMBOL=TOP2A;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=16/35;CSQ_INTRON=.;CSQ_Feature=NM_001067.4;CSQ_HGVSc=NM_001067.4:c.1855_1858dup;CSQ_HGVSp=NP_001058.2:p.Thr620LysfsTer7;CSQ_HGVSg=17:g.38562731_38562734dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV70732142;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TOP2A:T620fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,16:139:0.11511:65:-100:0:2,6,1,3,2,2,24,52,12,18,11,24:100:100 +17 38562841 . T C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=TOP2A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/35;CSQ_INTRON=.;CSQ_Feature=NM_001067.4;CSQ_HGVSc=NM_001067.4:c.1838A>G;CSQ_HGVSp=NP_001058.2:p.Tyr613Cys;CSQ_HGVSg=17:g.38562841T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV70732146;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.719;CSQ_Mastermind_MMID3=TOP2A:Y613C;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,10:131:0.07634:65:-100:0.1088:0,6,0,3,0,1,22,47,6,21,15,20:100:100 +17 40459737 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=STAT5A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/19;CSQ_INTRON=.;CSQ_Feature=NM_001288718.2;CSQ_HGVSc=NM_001288718.2:c.1902C>T;CSQ_HGVSp=NP_001275647.1:p.Asp634%3D;CSQ_HGVSg=17:g.40459737C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5847;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.189505;CSQ_gnomADe_AC=47168;CSQ_gnomADe_AN=245870;CSQ_gnomADe_AF=0.191841;CSQ_gnomADe_Hom=5182;CSQ_COSMICcMuts=COSV61806332&COSV61806332&COSV61806332&COSV61806332&COSV61806332&COSV61806332;CSQ_COSMICncMuts=COSV61806332;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=STAT5A:D603D&STAT5A:D604D&STAT5A:D634D;CSQ_CADD_PHRED=12.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,40:161:0.24845:65:-100:0.1436:6,15,5,4,2,8,18,61,22,19,17,24:100:100 +17 40459737 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=STAT5A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/18;CSQ_INTRON=.;CSQ_Feature=NM_001288719.2;CSQ_HGVSc=NM_001288719.2:c.1812C>T;CSQ_HGVSp=NP_001275648.1:p.Asp604%3D;CSQ_HGVSg=17:g.40459737C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5847;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.189505;CSQ_gnomADe_AC=47168;CSQ_gnomADe_AN=245870;CSQ_gnomADe_AF=0.191841;CSQ_gnomADe_Hom=5182;CSQ_COSMICcMuts=COSV61806332&COSV61806332&COSV61806332&COSV61806332&COSV61806332&COSV61806332;CSQ_COSMICncMuts=COSV61806332;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=STAT5A:D603D&STAT5A:D604D&STAT5A:D634D;CSQ_CADD_PHRED=12.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,40:161:0.24845:65:-100:0.1436:6,15,5,4,2,8,18,61,22,19,17,24:100:100 +17 40459737 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=STAT5A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/20;CSQ_INTRON=.;CSQ_Feature=NM_003152.4;CSQ_HGVSc=NM_003152.4:c.1902C>T;CSQ_HGVSp=NP_003143.2:p.Asp634%3D;CSQ_HGVSg=17:g.40459737C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5847;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.189505;CSQ_gnomADe_AC=47168;CSQ_gnomADe_AN=245870;CSQ_gnomADe_AF=0.191841;CSQ_gnomADe_Hom=5182;CSQ_COSMICcMuts=COSV61806332&COSV61806332&COSV61806332&COSV61806332&COSV61806332&COSV61806332;CSQ_COSMICncMuts=COSV61806332;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=STAT5A:D603D&STAT5A:D604D&STAT5A:D634D;CSQ_CADD_PHRED=12.39 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,40:161:0.24845:65:-100:0.1436:6,15,5,4,2,8,18,61,22,19,17,24:100:100 +17 40461431 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=STAT5A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/19;CSQ_INTRON=.;CSQ_Feature=NM_001288718.2;CSQ_HGVSc=NM_001288718.2:c.2151C>T;CSQ_HGVSp=NP_001275647.1:p.Ser717%3D;CSQ_HGVSg=17:g.40461431C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=9.69995e-05;CSQ_gnomADe_AC=27;CSQ_gnomADe_AN=245990;CSQ_gnomADe_AF=0.000109761;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0.1627:5,5,1,1,1,0,23,44,8,24,10,30:100:100 +17 40461431 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=STAT5A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/18;CSQ_INTRON=.;CSQ_Feature=NM_001288719.2;CSQ_HGVSc=NM_001288719.2:c.2061C>T;CSQ_HGVSp=NP_001275648.1:p.Ser687%3D;CSQ_HGVSg=17:g.40461431C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=9.69995e-05;CSQ_gnomADe_AC=27;CSQ_gnomADe_AN=245990;CSQ_gnomADe_AF=0.000109761;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0.1627:5,5,1,1,1,0,23,44,8,24,10,30:100:100 +17 40461431 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=STAT3;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_003150.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.40461431C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=9.69995e-05;CSQ_gnomADe_AC=27;CSQ_gnomADe_AN=245990;CSQ_gnomADe_AF=0.000109761;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0.1627:5,5,1,1,1,0,23,44,8,24,10,30:100:100 +17 40461431 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=STAT5A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/20;CSQ_INTRON=.;CSQ_Feature=NM_003152.4;CSQ_HGVSc=NM_003152.4:c.2151C>T;CSQ_HGVSp=NP_003143.2:p.Ser717%3D;CSQ_HGVSg=17:g.40461431C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=9.69995e-05;CSQ_gnomADe_AC=27;CSQ_gnomADe_AN=245990;CSQ_gnomADe_AF=0.000109761;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0.1627:5,5,1,1,1,0,23,44,8,24,10,30:100:100 +17 40461431 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=STAT3;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_139276.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.40461431C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=9.69995e-05;CSQ_gnomADe_AC=27;CSQ_gnomADe_AN=245990;CSQ_gnomADe_AF=0.000109761;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.737 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0.1627:5,5,1,1,1,0,23,44,8,24,10,30:100:100 +17 40475060 . CCTT C 100 PASS DP=184;CSQ_Allele=-;CSQ_SYMBOL=STAT3;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=20/24;CSQ_INTRON=.;CSQ_Feature=NM_003150.4;CSQ_HGVSc=NM_003150.4:c.1847_1849del;CSQ_HGVSp=NP_003141.2:p.Glu616del;CSQ_HGVSg=17:g.40475064_40475066del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52882850&COSV52882850&COSV52882850&COSV52882850&COSV52882850;CSQ_COSMICncMuts=COSV52882850;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=STAT3:E616del;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,16:184:0.08696:65:-100:0:1,7,3,1,0,4,29,75,13,33,7,29:100:100 +17 40475060 . CCTT C 100 PASS DP=184;CSQ_Allele=-;CSQ_SYMBOL=STAT3;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=20/24;CSQ_INTRON=.;CSQ_Feature=NM_139276.3;CSQ_HGVSc=NM_139276.3:c.1847_1849del;CSQ_HGVSp=NP_644805.1:p.Glu616del;CSQ_HGVSg=17:g.40475064_40475066del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52882850&COSV52882850&COSV52882850&COSV52882850&COSV52882850;CSQ_COSMICncMuts=COSV52882850;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=STAT3:E616del;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,16:184:0.08696:65:-100:0:1,7,3,1,0,4,29,75,13,33,7,29:100:100 +17 40483532 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=STAT3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/24;CSQ_INTRON=.;CSQ_Feature=NM_003150.4;CSQ_HGVSc=NM_003150.4:c.1067C>T;CSQ_HGVSp=NP_003141.2:p.Pro356Leu;CSQ_HGVSg=17:g.40483532G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52892305&COSV52892305&COSV52892305&COSV52892305&COSV52892305;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.680;CSQ_Mastermind_MMID3=STAT3:P356L;CSQ_CADD_PHRED=26.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,10:128:0.07813:65:-100:0.1172:2,2,1,2,1,2,29,41,12,16,6,24:100:100 +17 40483532 . G A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=STAT3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/24;CSQ_INTRON=.;CSQ_Feature=NM_139276.3;CSQ_HGVSc=NM_139276.3:c.1067C>T;CSQ_HGVSp=NP_644805.1:p.Pro356Leu;CSQ_HGVSg=17:g.40483532G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52892305&COSV52892305&COSV52892305&COSV52892305&COSV52892305;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.680;CSQ_Mastermind_MMID3=STAT3:P356L;CSQ_CADD_PHRED=26.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,10:128:0.07813:65:-100:0.1172:2,2,1,2,1,2,29,41,12,16,6,24:100:100 +17 41204377 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/21;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.5137-1243T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41204377A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209266;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9677;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.313476;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:K1712int&BRCA1:K1712inta&BRCA1:K1759int&BRCA1:K1759inta&BRCA1:K1780int&BRCA1:K1780inta&BRCA1:K655int&BRCA1:K655inta;CSQ_CADD_PHRED=2.965 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,26:101:0.25743:65:-100:0.2837:5,11,3,3,1,3,10,30,14,16,16,15:100:100 +17 41204377 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.1966-1243T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41204377A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209266;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9677;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.313476;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:K1712int&BRCA1:K1712inta&BRCA1:K1759int&BRCA1:K1759inta&BRCA1:K1780int&BRCA1:K1780inta&BRCA1:K655int&BRCA1:K655inta;CSQ_CADD_PHRED=2.965 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,26:101:0.25743:65:-100:0.2837:5,11,3,3,1,3,10,30,14,16,16,15:100:100 +17 41204377 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/23;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.5341-1243T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41204377A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209266;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9677;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.313476;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:K1712int&BRCA1:K1712inta&BRCA1:K1759int&BRCA1:K1759inta&BRCA1:K1780int&BRCA1:K1780inta&BRCA1:K655int&BRCA1:K655inta;CSQ_CADD_PHRED=2.965 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,26:101:0.25743:65:-100:0.2837:5,11,3,3,1,3,10,30,14,16,16,15:100:100 +17 41204377 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/22;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.5455-1243T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41204377A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209266;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9677;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.313476;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:K1712int&BRCA1:K1712inta&BRCA1:K1759int&BRCA1:K1759inta&BRCA1:K1780int&BRCA1:K1780inta&BRCA1:K655int&BRCA1:K655inta;CSQ_CADD_PHRED=2.965 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,26:101:0.25743:65:-100:0.2837:5,11,3,3,1,3,10,30,14,16,16,15:100:100 +17 41204390 . T C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/21;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.5137-1256A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41204390T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209267;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9664;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.313116;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:K1712int&BRCA1:K1712inta&BRCA1:K1759int&BRCA1:K1759inta&BRCA1:K1780int&BRCA1:K1780inta&BRCA1:K655int&BRCA1:K655inta;CSQ_CADD_PHRED=3.786 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,18:83:0.21687:65:-100:0.3025:3,9,3,1,0,2,5,28,13,14,13,10:100:100 +17 41204390 . T C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.1966-1256A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41204390T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209267;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9664;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.313116;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:K1712int&BRCA1:K1712inta&BRCA1:K1759int&BRCA1:K1759inta&BRCA1:K1780int&BRCA1:K1780inta&BRCA1:K655int&BRCA1:K655inta;CSQ_CADD_PHRED=3.786 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,18:83:0.21687:65:-100:0.3025:3,9,3,1,0,2,5,28,13,14,13,10:100:100 +17 41204390 . T C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/23;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.5341-1256A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41204390T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209267;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9664;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.313116;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:K1712int&BRCA1:K1712inta&BRCA1:K1759int&BRCA1:K1759inta&BRCA1:K1780int&BRCA1:K1780inta&BRCA1:K655int&BRCA1:K655inta;CSQ_CADD_PHRED=3.786 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,18:83:0.21687:65:-100:0.3025:3,9,3,1,0,2,5,28,13,14,13,10:100:100 +17 41204390 . T C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/22;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.5455-1256A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41204390T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209267;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9664;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.313116;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:K1712int&BRCA1:K1712inta&BRCA1:K1759int&BRCA1:K1759inta&BRCA1:K1780int&BRCA1:K1780inta&BRCA1:K655int&BRCA1:K655inta;CSQ_CADD_PHRED=3.786 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,18:83:0.21687:65:-100:0.3025:3,9,3,1,0,2,5,28,13,14,13,10:100:100 +17 41207307 . AT A 100 PASS DP=154;CSQ_Allele=-;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/21;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.5136+1761del;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41207315del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.000646412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.335 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,15:154:0.0974:65:-100:0:0,6,3,2,3,1,25,47,12,36,13,21:100:100 +17 41207307 . AT A 100 PASS DP=154;CSQ_Allele=-;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=18/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.1965+1761del;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41207315del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.000646412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.335 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,15:154:0.0974:65:-100:0:0,6,3,2,3,1,25,47,12,36,13,21:100:100 +17 41207307 . AT A 100 PASS DP=154;CSQ_Allele=-;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=20/23;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.5340+1761del;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41207315del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.000646412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.335 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,15:154:0.0974:65:-100:0:0,6,3,2,3,1,25,47,12,36,13,21:100:100 +17 41207307 . AT A 100 PASS DP=154;CSQ_Allele=-;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=19/22;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.5454+1761del;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41207315del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.000646412;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.335 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,15:154:0.0974:65:-100:0:0,6,3,2,3,1,25,47,12,36,13,21:100:100 +17 41216205 . G T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/21;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.4934-237C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41216205G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209322;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=7517;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.243221;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:D1645int&BRCA1:D1645inta&BRCA1:D1692int&BRCA1:D1692inta&BRCA1:D1713int&BRCA1:D1713inta&BRCA1:D588int&BRCA1:D588inta;CSQ_CADD_PHRED=3.644 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,31:161:0.19255:65:-100:0.1481:7,8,4,8,2,2,34,50,16,25,14,22:100:100 +17 41216205 . G T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=15/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.1763-237C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41216205G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209322;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=7517;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.243221;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:D1645int&BRCA1:D1645inta&BRCA1:D1692int&BRCA1:D1692inta&BRCA1:D1713int&BRCA1:D1713inta&BRCA1:D588int&BRCA1:D588inta;CSQ_CADD_PHRED=3.644 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,31:161:0.19255:65:-100:0.1481:7,8,4,8,2,2,34,50,16,25,14,22:100:100 +17 41216205 . G T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/23;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.5138-237C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41216205G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209322;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=7517;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.243221;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:D1645int&BRCA1:D1645inta&BRCA1:D1692int&BRCA1:D1692inta&BRCA1:D1713int&BRCA1:D1713inta&BRCA1:D588int&BRCA1:D588inta;CSQ_CADD_PHRED=3.644 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,31:161:0.19255:65:-100:0.1481:7,8,4,8,2,2,34,50,16,25,14,22:100:100 +17 41216205 . G T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=16/22;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.5252-237C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41216205G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209322;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=7517;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.243221;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:D1645int&BRCA1:D1645inta&BRCA1:D1692int&BRCA1:D1692inta&BRCA1:D1713int&BRCA1:D1713inta&BRCA1:D588int&BRCA1:D588inta;CSQ_CADD_PHRED=3.644 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,31:161:0.19255:65:-100:0.1481:7,8,4,8,2,2,34,50,16,25,14,22:100:100 +17 41223094 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.4696A>G;CSQ_HGVSp=NP_009228.2:p.Ser1566Gly;CSQ_HGVSg=17:g.41223094T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41827;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9831;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.317908;CSQ_gnomADe_AC=87283;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.354601;CSQ_gnomADe_Hom=16323;CSQ_COSMICcMuts=COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381;CSQ_COSMICncMuts=COSV58783381;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=0.252;CSQ_Mastermind_MMID3=BRCA1:S1566G&BRCA1:S1613G&BRCA1:S1634G&BRCA1:S509G;CSQ_CADD_PHRED=9.512 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,45:150:0.3:65:-100:0.162:10,17,4,5,3,6,29,56,10,22,9,24:100:100 +17 41223094 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/22;CSQ_INTRON=.;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.1525A>G;CSQ_HGVSp=NP_009229.2:p.Ser509Gly;CSQ_HGVSg=17:g.41223094T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41827;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9831;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.317908;CSQ_gnomADe_AC=87283;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.354601;CSQ_gnomADe_Hom=16323;CSQ_COSMICcMuts=COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381;CSQ_COSMICncMuts=COSV58783381;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=0.252;CSQ_Mastermind_MMID3=BRCA1:S1566G&BRCA1:S1613G&BRCA1:S1634G&BRCA1:S509G;CSQ_CADD_PHRED=9.512 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,45:150:0.3:65:-100:0.162:10,17,4,5,3,6,29,56,10,22,9,24:100:100 +17 41223094 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.4900A>G;CSQ_HGVSp=NP_009231.2:p.Ser1634Gly;CSQ_HGVSg=17:g.41223094T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41827;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9831;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.317908;CSQ_gnomADe_AC=87283;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.354601;CSQ_gnomADe_Hom=16323;CSQ_COSMICcMuts=COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381;CSQ_COSMICncMuts=COSV58783381;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=0.252;CSQ_Mastermind_MMID3=BRCA1:S1566G&BRCA1:S1613G&BRCA1:S1634G&BRCA1:S509G;CSQ_CADD_PHRED=9.512 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,45:150:0.3:65:-100:0.162:10,17,4,5,3,6,29,56,10,22,9,24:100:100 +17 41223094 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.5014A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41223094T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41827;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9831;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.317908;CSQ_gnomADe_AC=87283;CSQ_gnomADe_AN=246144;CSQ_gnomADe_AF=0.354601;CSQ_gnomADe_Hom=16323;CSQ_COSMICcMuts=COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381&COSV58783381;CSQ_COSMICncMuts=COSV58783381;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.512 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,45:150:0.3:65:-100:0.162:10,17,4,5,3,6,29,56,10,22,9,24:100:100 +17 41234451 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=11/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.4186C>T;CSQ_HGVSp=NP_009228.2:p.Arg1396Ter;CSQ_HGVSg=17:g.41234451G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=17675;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=3.22893e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=2.43756e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462;CSQ_COSMICncMuts=COSV58787462;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:R1396X&BRCA1:R1443X&BRCA1:R340X;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,12:137:0.08759:65:-100:0.1697:2,5,0,2,1,2,25,45,14,19,18,16:100:100 +17 41234451 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=11/22;CSQ_INTRON=.;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.1018C>T;CSQ_HGVSp=NP_009229.2:p.Arg340Ter;CSQ_HGVSg=17:g.41234451G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=17675;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=3.22893e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=2.43756e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462;CSQ_COSMICncMuts=COSV58787462;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:R1396X&BRCA1:R1443X&BRCA1:R340X;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,12:137:0.08759:65:-100:0.1697:2,5,0,2,1,2,25,45,14,19,18,16:100:100 +17 41234451 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.4327C>T;CSQ_HGVSp=NP_009231.2:p.Arg1443Ter;CSQ_HGVSg=17:g.41234451G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=17675;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=3.22893e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=2.43756e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462;CSQ_COSMICncMuts=COSV58787462;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:R1396X&BRCA1:R1443X&BRCA1:R340X;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,12:137:0.08759:65:-100:0.1697:2,5,0,2,1,2,25,45,14,19,18,16:100:100 +17 41234451 . G A 100 PASS DP=137;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.4504C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41234451G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=17675;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=3.22893e-05;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=246148;CSQ_gnomADe_AF=2.43756e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462&COSV58787462;CSQ_COSMICncMuts=COSV58787462;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,12:137:0.08759:65:-100:0.1697:2,5,0,2,1,2,25,45,14,19,18,16:100:100 +17 41234470 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.4167T>C;CSQ_HGVSp=NP_009228.2:p.Ser1389%3D;CSQ_HGVSg=17:g.41234470A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125703;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9304;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.301061;CSQ_gnomADe_AC=85980;CSQ_gnomADe_AN=246168;CSQ_gnomADe_AF=0.349274;CSQ_gnomADe_Hom=15965;CSQ_COSMICcMuts=COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806;CSQ_COSMICncMuts=COSV58783806;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:S1389S&BRCA1:S1436S&BRCA1:S333S;CSQ_CADD_PHRED=2.715 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,20:122:0.16393:65:-100:0.1701:2,6,1,5,3,3,25,37,13,14,11,22:100:100 +17 41234470 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/22;CSQ_INTRON=.;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.999T>C;CSQ_HGVSp=NP_009229.2:p.Ser333%3D;CSQ_HGVSg=17:g.41234470A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125703;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9304;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.301061;CSQ_gnomADe_AC=85980;CSQ_gnomADe_AN=246168;CSQ_gnomADe_AF=0.349274;CSQ_gnomADe_Hom=15965;CSQ_COSMICcMuts=COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806;CSQ_COSMICncMuts=COSV58783806;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:S1389S&BRCA1:S1436S&BRCA1:S333S;CSQ_CADD_PHRED=2.715 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,20:122:0.16393:65:-100:0.1701:2,6,1,5,3,3,25,37,13,14,11,22:100:100 +17 41234470 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.4308T>C;CSQ_HGVSp=NP_009231.2:p.Ser1436%3D;CSQ_HGVSg=17:g.41234470A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125703;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9304;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.301061;CSQ_gnomADe_AC=85980;CSQ_gnomADe_AN=246168;CSQ_gnomADe_AF=0.349274;CSQ_gnomADe_Hom=15965;CSQ_COSMICcMuts=COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806;CSQ_COSMICncMuts=COSV58783806;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:S1389S&BRCA1:S1436S&BRCA1:S333S;CSQ_CADD_PHRED=2.715 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,20:122:0.16393:65:-100:0.1701:2,6,1,5,3,3,25,37,13,14,11,22:100:100 +17 41234470 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.4485T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41234470A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125703;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9304;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.301061;CSQ_gnomADe_AC=85980;CSQ_gnomADe_AN=246168;CSQ_gnomADe_AF=0.349274;CSQ_gnomADe_Hom=15965;CSQ_COSMICcMuts=COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806&COSV58783806;CSQ_COSMICncMuts=COSV58783806;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.715 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,20:122:0.16393:65:-100:0.1701:2,6,1,5,3,3,25,37,13,14,11,22:100:100 +17 41242849 . G T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/21;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.4044+112C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41242849G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209443;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=793;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0256038;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303;CSQ_COSMICncMuts=COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:Q1348int&BRCA1:Q1348intd&BRCA1:Q1395int&BRCA1:Q1395intd&BRCA1:Q292int&BRCA1:Q292intd;CSQ_CADD_PHRED=1.080 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,16:170:0.09412:65:-100:0.086:4,5,1,3,0,3,28,58,11,29,18,26:100:100 +17 41242849 . G T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.876+112C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41242849G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209443;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=793;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0256038;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303;CSQ_COSMICncMuts=COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:Q1348int&BRCA1:Q1348intd&BRCA1:Q1395int&BRCA1:Q1395intd&BRCA1:Q292int&BRCA1:Q292intd;CSQ_CADD_PHRED=1.080 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,16:170:0.09412:65:-100:0.086:4,5,1,3,0,3,28,58,11,29,18,26:100:100 +17 41242849 . G T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/23;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.4185+112C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41242849G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209443;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=793;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0256038;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303;CSQ_COSMICncMuts=COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:Q1348int&BRCA1:Q1348intd&BRCA1:Q1395int&BRCA1:Q1395intd&BRCA1:Q292int&BRCA1:Q292intd;CSQ_CADD_PHRED=1.080 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,16:170:0.09412:65:-100:0.086:4,5,1,3,0,3,28,58,11,29,18,26:100:100 +17 41242849 . G T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/22;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.4362+112C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41242849G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209443;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=793;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0256038;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303;CSQ_COSMICncMuts=COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303&COSV58803303;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:Q1348int&BRCA1:Q1348intd&BRCA1:Q1395int&BRCA1:Q1395intd&BRCA1:Q292int&BRCA1:Q292intd;CSQ_CADD_PHRED=1.080 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,16:170:0.09412:65:-100:0.086:4,5,1,3,0,3,28,58,11,29,18,26:100:100 +17 41244000 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.3407A>G;CSQ_HGVSp=NP_009228.2:p.Lys1136Arg;CSQ_HGVSg=17:g.41244000T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41818;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9737;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.315011;CSQ_gnomADe_AC=86829;CSQ_gnomADe_AN=245718;CSQ_gnomADe_AF=0.353368;CSQ_gnomADe_Hom=16165;CSQ_COSMICcMuts=COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397;CSQ_COSMICncMuts=COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.067;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263inta&BRCA1:K1136R&BRCA1:K1183R;CSQ_CADD_PHRED=0.109 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,45:167:0.26946:65:-100:0.1436:8,16,3,10,2,6,27,61,11,26,8,34:100:100 +17 41244000 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.788-951A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41244000T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41818;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9737;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.315011;CSQ_gnomADe_AC=86829;CSQ_gnomADe_AN=245718;CSQ_gnomADe_AF=0.353368;CSQ_gnomADe_Hom=16165;CSQ_COSMICcMuts=COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397;CSQ_COSMICncMuts=COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263inta&BRCA1:K1136R&BRCA1:K1183R;CSQ_CADD_PHRED=0.109 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,45:167:0.26946:65:-100:0.1436:8,16,3,10,2,6,27,61,11,26,8,34:100:100 +17 41244000 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.3548A>G;CSQ_HGVSp=NP_009231.2:p.Lys1183Arg;CSQ_HGVSg=17:g.41244000T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41818;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9737;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.315011;CSQ_gnomADe_AC=86829;CSQ_gnomADe_AN=245718;CSQ_gnomADe_AF=0.353368;CSQ_gnomADe_Hom=16165;CSQ_COSMICcMuts=COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397;CSQ_COSMICncMuts=COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=0.067;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263inta&BRCA1:K1136R&BRCA1:K1183R;CSQ_CADD_PHRED=0.109 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,45:167:0.26946:65:-100:0.1436:8,16,3,10,2,6,27,61,11,26,8,34:100:100 +17 41244000 . T C 100 PASS DP=167;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.3725A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41244000T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41818;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9737;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.315011;CSQ_gnomADe_AC=86829;CSQ_gnomADe_AN=245718;CSQ_gnomADe_AF=0.353368;CSQ_gnomADe_Hom=16165;CSQ_COSMICcMuts=COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397;CSQ_COSMICncMuts=COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397&COSV58784397;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=14;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.109 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,45:167:0.26946:65:-100:0.1436:8,16,3,10,2,6,27,61,11,26,8,34:100:100 +17 41244429 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.2978G>A;CSQ_HGVSp=NP_009228.2:p.Ser993Asn;CSQ_HGVSg=17:g.41244429C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=17670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=347;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0112109;CSQ_gnomADe_AC=3239;CSQ_gnomADe_AN=245776;CSQ_gnomADe_AF=0.0131787;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858;CSQ_COSMICncMuts=COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=0.376;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263inta&BRCA1:S1040N&BRCA1:S993N;CSQ_CADD_PHRED=14.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,7:164:0.04268:65:-100:0.1183:1,3,0,1,0,2,19,47,20,32,10,36:67.073:100 +17 41244429 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.788-1380G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41244429C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=17670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=347;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0112109;CSQ_gnomADe_AC=3239;CSQ_gnomADe_AN=245776;CSQ_gnomADe_AF=0.0131787;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858;CSQ_COSMICncMuts=COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263inta&BRCA1:S1040N&BRCA1:S993N;CSQ_CADD_PHRED=14.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,7:164:0.04268:65:-100:0.1183:1,3,0,1,0,2,19,47,20,32,10,36:67.073:100 +17 41244429 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.3119G>A;CSQ_HGVSp=NP_009231.2:p.Ser1040Asn;CSQ_HGVSg=17:g.41244429C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=17670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=347;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0112109;CSQ_gnomADe_AC=3239;CSQ_gnomADe_AN=245776;CSQ_gnomADe_AF=0.0131787;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858;CSQ_COSMICncMuts=COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=0.376;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263inta&BRCA1:S1040N&BRCA1:S993N;CSQ_CADD_PHRED=14.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,7:164:0.04268:65:-100:0.1183:1,3,0,1,0,2,19,47,20,32,10,36:67.073:100 +17 41244429 . C T 100 PASS DP=164;CSQ_Allele=T;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.3296G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41244429C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=17670;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=347;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0112109;CSQ_gnomADe_AC=3239;CSQ_gnomADe_AN=245776;CSQ_gnomADe_AF=0.0131787;CSQ_gnomADe_Hom=26;CSQ_COSMICcMuts=COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858;CSQ_COSMICncMuts=COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858&COSV58791858;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,7:164:0.04268:65:-100:0.1183:1,3,0,1,0,2,19,47,20,32,10,36:67.073:100 +17 41244435 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.2972A>G;CSQ_HGVSp=NP_009228.2:p.Glu991Gly;CSQ_HGVSg=17:g.41244435T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41815;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9278;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.300395;CSQ_gnomADe_AC=85785;CSQ_gnomADe_AN=245784;CSQ_gnomADe_AF=0.349026;CSQ_gnomADe_Hom=15910;CSQ_COSMICcMuts=COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412;CSQ_COSMICncMuts=COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.227;CSQ_Mastermind_MMID3=BRCA1:E1038G&BRCA1:E991G&BRCA1:G263int&BRCA1:G263inta;CSQ_CADD_PHRED=15.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,31:169:0.18343:65:-100:0.1378:2,10,2,6,2,9,19,48,21,36,9,36:100:100 +17 41244435 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.788-1386A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41244435T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41815;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9278;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.300395;CSQ_gnomADe_AC=85785;CSQ_gnomADe_AN=245784;CSQ_gnomADe_AF=0.349026;CSQ_gnomADe_Hom=15910;CSQ_COSMICcMuts=COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412;CSQ_COSMICncMuts=COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:E1038G&BRCA1:E991G&BRCA1:G263int&BRCA1:G263inta;CSQ_CADD_PHRED=15.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,31:169:0.18343:65:-100:0.1378:2,10,2,6,2,9,19,48,21,36,9,36:100:100 +17 41244435 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.3113A>G;CSQ_HGVSp=NP_009231.2:p.Glu1038Gly;CSQ_HGVSg=17:g.41244435T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41815;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9278;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.300395;CSQ_gnomADe_AC=85785;CSQ_gnomADe_AN=245784;CSQ_gnomADe_AF=0.349026;CSQ_gnomADe_Hom=15910;CSQ_COSMICcMuts=COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412;CSQ_COSMICncMuts=COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.227;CSQ_Mastermind_MMID3=BRCA1:E1038G&BRCA1:E991G&BRCA1:G263int&BRCA1:G263inta;CSQ_CADD_PHRED=15.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,31:169:0.18343:65:-100:0.1378:2,10,2,6,2,9,19,48,21,36,9,36:100:100 +17 41244435 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.3290A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41244435T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41815;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Malignant_tumor_of_breast&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9278;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.300395;CSQ_gnomADe_AC=85785;CSQ_gnomADe_AN=245784;CSQ_gnomADe_AF=0.349026;CSQ_gnomADe_Hom=15910;CSQ_COSMICcMuts=COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412;CSQ_COSMICncMuts=COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412&COSV58786412;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.07 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,31:169:0.18343:65:-100:0.1378:2,10,2,6,2,9,19,48,21,36,9,36:100:100 +17 41244936 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.2471C>T;CSQ_HGVSp=NP_009228.2:p.Pro824Leu;CSQ_HGVSg=17:g.41244936G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41812;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=14991;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.48546;CSQ_gnomADe_AC=99097;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.403158;CSQ_gnomADe_Hom=22183;CSQ_COSMICcMuts=COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386;CSQ_COSMICncMuts=COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=0.140;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:P824L&BRCA1:P871L;CSQ_CADD_PHRED=18.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,60:155:0.3871:65:-100:0.1292:5,23,9,11,6,6,25,55,17,21,18,19:100:100 +17 41244936 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.787+1825C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41244936G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41812;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=14991;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.48546;CSQ_gnomADe_AC=99097;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.403158;CSQ_gnomADe_Hom=22183;CSQ_COSMICcMuts=COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386;CSQ_COSMICncMuts=COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:P824L&BRCA1:P871L;CSQ_CADD_PHRED=18.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,60:155:0.3871:65:-100:0.1292:5,23,9,11,6,6,25,55,17,21,18,19:100:100 +17 41244936 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.2612C>T;CSQ_HGVSp=NP_009231.2:p.Pro871Leu;CSQ_HGVSg=17:g.41244936G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41812;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=14991;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.48546;CSQ_gnomADe_AC=99097;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.403158;CSQ_gnomADe_Hom=22183;CSQ_COSMICcMuts=COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386;CSQ_COSMICncMuts=COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=0.140;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:P824L&BRCA1:P871L;CSQ_CADD_PHRED=18.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,60:155:0.3871:65:-100:0.1292:5,23,9,11,6,6,25,55,17,21,18,19:100:100 +17 41244936 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.2789C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41244936G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41812;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast_carcinoma&Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=14991;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.48546;CSQ_gnomADe_AC=99097;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.403158;CSQ_gnomADe_Hom=22183;CSQ_COSMICcMuts=COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386;CSQ_COSMICncMuts=COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386&COSV58784386;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=37;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.04 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,60:155:0.3871:65:-100:0.1292:5,23,9,11,6,6,25,55,17,21,18,19:100:100 +17 41245090 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.2317A>G;CSQ_HGVSp=NP_009228.2:p.Lys773Glu;CSQ_HGVSg=17:g.41245090T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41810;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=289;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00933101;CSQ_gnomADe_AC=581;CSQ_gnomADe_AN=245488;CSQ_gnomADe_AF=0.00236671;CSQ_gnomADe_Hom=10;CSQ_COSMICcMuts=COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413;CSQ_COSMICncMuts=COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=0.237;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:K773E&BRCA1:K820E;CSQ_CADD_PHRED=0.936 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,15:148:0.10135:65:-100:0.1084:0,7,1,2,3,2,12,62,18,17,14,25:100:100 +17 41245090 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.787+1671A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41245090T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41810;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=289;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00933101;CSQ_gnomADe_AC=581;CSQ_gnomADe_AN=245488;CSQ_gnomADe_AF=0.00236671;CSQ_gnomADe_Hom=10;CSQ_COSMICcMuts=COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413;CSQ_COSMICncMuts=COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:K773E&BRCA1:K820E;CSQ_CADD_PHRED=0.936 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,15:148:0.10135:65:-100:0.1084:0,7,1,2,3,2,12,62,18,17,14,25:100:100 +17 41245090 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.2458A>G;CSQ_HGVSp=NP_009231.2:p.Lys820Glu;CSQ_HGVSg=17:g.41245090T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41810;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=289;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00933101;CSQ_gnomADe_AC=581;CSQ_gnomADe_AN=245488;CSQ_gnomADe_AF=0.00236671;CSQ_gnomADe_Hom=10;CSQ_COSMICcMuts=COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413;CSQ_COSMICncMuts=COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=0.237;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:K773E&BRCA1:K820E;CSQ_CADD_PHRED=0.936 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,15:148:0.10135:65:-100:0.1084:0,7,1,2,3,2,12,62,18,17,14,25:100:100 +17 41245090 . T C 100 PASS DP=148;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.2635A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41245090T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=41810;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=289;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.00933101;CSQ_gnomADe_AC=581;CSQ_gnomADe_AN=245488;CSQ_gnomADe_AF=0.00236671;CSQ_gnomADe_Hom=10;CSQ_COSMICcMuts=COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413;CSQ_COSMICncMuts=COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413&COSV99066413;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.936 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,15:148:0.10135:65:-100:0.1084:0,7,1,2,3,2,12,62,18,17,14,25:100:100 +17 41245237 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.2170T>C;CSQ_HGVSp=NP_009228.2:p.Leu724%3D;CSQ_HGVSg=17:g.41245237A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125554;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9256;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.299799;CSQ_gnomADe_AC=85559;CSQ_gnomADe_AN=245724;CSQ_gnomADe_AF=0.348191;CSQ_gnomADe_Hom=15828;CSQ_COSMICcMuts=COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443;CSQ_COSMICncMuts=COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:L724L&BRCA1:L771L;CSQ_CADD_PHRED=5.579 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,30:160:0.1875:65:-100:0.1011:9,11,0,2,3,5,30,57,11,26,10,26:100:100 +17 41245237 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.787+1524T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41245237A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125554;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9256;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.299799;CSQ_gnomADe_AC=85559;CSQ_gnomADe_AN=245724;CSQ_gnomADe_AF=0.348191;CSQ_gnomADe_Hom=15828;CSQ_COSMICcMuts=COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443;CSQ_COSMICncMuts=COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:L724L&BRCA1:L771L;CSQ_CADD_PHRED=5.579 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,30:160:0.1875:65:-100:0.1011:9,11,0,2,3,5,30,57,11,26,10,26:100:100 +17 41245237 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.2311T>C;CSQ_HGVSp=NP_009231.2:p.Leu771%3D;CSQ_HGVSg=17:g.41245237A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125554;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9256;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.299799;CSQ_gnomADe_AC=85559;CSQ_gnomADe_AN=245724;CSQ_gnomADe_AF=0.348191;CSQ_gnomADe_Hom=15828;CSQ_COSMICcMuts=COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443;CSQ_COSMICncMuts=COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:L724L&BRCA1:L771L;CSQ_CADD_PHRED=5.579 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,30:160:0.1875:65:-100:0.1011:9,11,0,2,3,5,30,57,11,26,10,26:100:100 +17 41245237 . A G 100 PASS DP=160;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.2488T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41245237A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125554;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9256;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=0.299799;CSQ_gnomADe_AC=85559;CSQ_gnomADe_AN=245724;CSQ_gnomADe_AF=0.348191;CSQ_gnomADe_Hom=15828;CSQ_COSMICcMuts=COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443;CSQ_COSMICncMuts=COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443&COSV58786443;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.579 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,30:160:0.1875:65:-100:0.1011:9,11,0,2,3,5,30,57,11,26,10,26:100:100 +17 41245466 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.1941C>T;CSQ_HGVSp=NP_009228.2:p.Ser647%3D;CSQ_HGVSg=17:g.41245466G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125536;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9761;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.315992;CSQ_gnomADe_AC=86878;CSQ_gnomADe_AN=245886;CSQ_gnomADe_AF=0.353326;CSQ_gnomADe_Hom=16184;CSQ_COSMICcMuts=COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419;CSQ_COSMICncMuts=COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:S647S&BRCA1:S694S;CSQ_CADD_PHRED=3.941 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,36:139:0.25899:65:-100:0.1366:6,16,4,5,0,5,25,48,15,19,14,18:100:100 +17 41245466 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.787+1295C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41245466G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125536;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9761;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.315992;CSQ_gnomADe_AC=86878;CSQ_gnomADe_AN=245886;CSQ_gnomADe_AF=0.353326;CSQ_gnomADe_Hom=16184;CSQ_COSMICcMuts=COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419;CSQ_COSMICncMuts=COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:S647S&BRCA1:S694S;CSQ_CADD_PHRED=3.941 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,36:139:0.25899:65:-100:0.1366:6,16,4,5,0,5,25,48,15,19,14,18:100:100 +17 41245466 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.2082C>T;CSQ_HGVSp=NP_009231.2:p.Ser694%3D;CSQ_HGVSg=17:g.41245466G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125536;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9761;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.315992;CSQ_gnomADe_AC=86878;CSQ_gnomADe_AN=245886;CSQ_gnomADe_AF=0.353326;CSQ_gnomADe_Hom=16184;CSQ_COSMICcMuts=COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419;CSQ_COSMICncMuts=COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:G263int&BRCA1:G263intd&BRCA1:S647S&BRCA1:S694S;CSQ_CADD_PHRED=3.941 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,36:139:0.25899:65:-100:0.1366:6,16,4,5,0,5,25,48,15,19,14,18:100:100 +17 41245466 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.2259C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41245466G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125536;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_breast_ovarian_cancer_syndrome&Breast-ovarian_cancer&_familial&_susceptibility_to&_1&Pancreatic_cancer&_susceptibility_to&_4&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast&Fanconi_anemia&_complementation_group_S¬_specified¬_provided;CSQ_gnomADg_AC=9761;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.315992;CSQ_gnomADe_AC=86878;CSQ_gnomADe_AN=245886;CSQ_gnomADe_AF=0.353326;CSQ_gnomADe_Hom=16184;CSQ_COSMICcMuts=COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419;CSQ_COSMICncMuts=COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419&COSV58784419;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.941 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,36:139:0.25899:65:-100:0.1366:6,16,4,5,0,5,25,48,15,19,14,18:100:100 +17 41246245 . C A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.1162G>T;CSQ_HGVSp=NP_009228.2:p.Asp388Tyr;CSQ_HGVSg=17:g.41246245C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979;CSQ_COSMICncMuts=COSV58784979&COSV58784979;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.483;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,19:164:0.11585:65:-100:0.1087:1,7,0,6,1,4,23,58,11,30,15,27:100:100 +17 41246245 . C A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.787+516G>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41246245C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979;CSQ_COSMICncMuts=COSV58784979&COSV58784979;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,19:164:0.11585:65:-100:0.1087:1,7,0,6,1,4,23,58,11,30,15,27:100:100 +17 41246245 . C A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/24;CSQ_INTRON=.;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.1303G>T;CSQ_HGVSp=NP_009231.2:p.Asp435Tyr;CSQ_HGVSg=17:g.41246245C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979;CSQ_COSMICncMuts=COSV58784979&COSV58784979;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=0.483;CSQ_Mastermind_MMID3=BRCA1:D435Y;CSQ_CADD_PHRED=15.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,19:164:0.11585:65:-100:0.1087:1,7,0,6,1,4,23,58,11,30,15,27:100:100 +17 41246245 . C A 100 PASS DP=164;CSQ_Allele=A;CSQ_SYMBOL=BRCA1;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.1480G>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41246245C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979&COSV58784979;CSQ_COSMICncMuts=COSV58784979&COSV58784979;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,19:164:0.11585:65:-100:0.1087:1,7,0,6,1,4,23,58,11,30,15,27:100:100 +17 41265776 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/21;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.-7-7226T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41265776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209524;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9784;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.316532;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta&BRCA1:K45int&BRCA1:K45intd;CSQ_CADD_PHRED=9.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,42:153:0.27451:65:-100:0.1639:8,13,4,3,7,7,24,56,19,16,17,21:100:100 +17 41265776 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/21;CSQ_Feature=NM_007298.3;CSQ_HGVSc=NM_007298.3:c.134+1967T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41265776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209524;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9784;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.316532;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta&BRCA1:K45int&BRCA1:K45intd;CSQ_CADD_PHRED=9.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,42:153:0.27451:65:-100:0.1639:8,13,4,3,7,7,24,56,19,16,17,21:100:100 +17 41265776 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/23;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.134+1967T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41265776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209524;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9784;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.316532;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta&BRCA1:K45int&BRCA1:K45intd;CSQ_CADD_PHRED=9.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,42:153:0.27451:65:-100:0.1639:8,13,4,3,7,7,24,56,19,16,17,21:100:100 +17 41265776 . A G 100 PASS DP=153;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/22;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.336+1967T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41265776A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209524;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1;CSQ_gnomADg_AC=9784;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.316532;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta&BRCA1:K45int&BRCA1:K45intd;CSQ_CADD_PHRED=9.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,42:153:0.27451:65:-100:0.1639:8,13,4,3,7,7,24,56,19,16,17,21:100:100 +17 41276247 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/21;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.-106-115T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41276247A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_specified¬_provided;CSQ_gnomADg_AC=9781;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.316599;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216;CSQ_COSMICncMuts=COSV58789216&COSV58789216&COSV58789216&COSV58789216;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta;CSQ_CADD_PHRED=2.861 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,31:116:0.26724:65:-100:0.1655:5,8,5,5,1,7,12,41,14,15,8,26:100:100 +17 41276247 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_007298.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41276247A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_specified¬_provided;CSQ_gnomADg_AC=9781;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.316599;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216;CSQ_COSMICncMuts=COSV58789216&COSV58789216&COSV58789216&COSV58789216;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta;CSQ_CADD_PHRED=2.861 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,31:116:0.26724:65:-100:0.1655:5,8,5,5,1,7,12,41,14,15,8,26:100:100 +17 41276247 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/23;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.-19-115T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41276247A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_specified¬_provided;CSQ_gnomADg_AC=9781;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.316599;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216;CSQ_COSMICncMuts=COSV58789216&COSV58789216&COSV58789216&COSV58789216;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta;CSQ_CADD_PHRED=2.861 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,31:116:0.26724:65:-100:0.1655:5,8,5,5,1,7,12,41,14,15,8,26:100:100 +17 41276247 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/22;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.184-115T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41276247A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=125468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_specified¬_provided;CSQ_gnomADg_AC=9781;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.316599;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216&COSV58789216;CSQ_COSMICncMuts=COSV58789216&COSV58789216&COSV58789216&COSV58789216;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta;CSQ_CADD_PHRED=2.861 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,31:116:0.26724:65:-100:0.1655:5,8,5,5,1,7,12,41,14,15,8,26:100:100 +17 41276348 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/21;CSQ_Feature=NM_007297.4;CSQ_HGVSc=NM_007297.4:c.-106-216A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41276348T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209574;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=9776;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.316334;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta;CSQ_CADD_PHRED=0.163 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,35:125:0.28:65:-100:0.1722:7,9,2,8,1,8,20,39,6,26,6,28:100:100 +17 41276348 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_007298.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41276348T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209574;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=9776;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.316334;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta;CSQ_CADD_PHRED=0.163 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,35:125:0.28:65:-100:0.1722:7,9,2,8,1,8,20,39,6,26,6,28:100:100 +17 41276348 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/23;CSQ_Feature=NM_007300.4;CSQ_HGVSc=NM_007300.4:c.-19-216A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41276348T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209574;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=9776;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.316334;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta;CSQ_CADD_PHRED=0.163 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,35:125:0.28:65:-100:0.1722:7,9,2,8,1,8,20,39,6,26,6,28:100:100 +17 41276348 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=BRCA1;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/22;CSQ_Feature=NR_027676.2;CSQ_HGVSc=NR_027676.2:n.184-216A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41276348T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=209574;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Breast-ovarian_cancer&_familial&_susceptibility_to&_1¬_provided;CSQ_gnomADg_AC=9776;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.316334;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRCA1:5UTR&BRCA1:5UTRint&BRCA1:5UTRinta;CSQ_CADD_PHRED=0.163 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,35:125:0.28:65:-100:0.1722:7,9,2,8,1,8,20,39,6,26,6,28:100:100 +17 41609336 . T C 100 PASS DP=176;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.811+706A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41609336T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7223;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.233482;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:D232int&ETV4:D232intd&ETV4:D270int&ETV4:D270intd&ETV4:D271int&ETV4:D271intd;CSQ_CADD_PHRED=7.497 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,60:176:0.34091:65:-100:0.0928:12,13,5,15,6,9,31,56,12,29,14,34:100:100 +17 41609336 . T C 100 PASS DP=176;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.811+706A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41609336T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7223;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.233482;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:D232int&ETV4:D232intd&ETV4:D270int&ETV4:D270intd&ETV4:D271int&ETV4:D271intd;CSQ_CADD_PHRED=7.497 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,60:176:0.34091:65:-100:0.0928:12,13,5,15,6,9,31,56,12,29,14,34:100:100 +17 41609470 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.811+572C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41609470G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7249;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.234474;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:D232int&ETV4:D232intd&ETV4:D270int&ETV4:D270intd&ETV4:D271int&ETV4:D271intd;CSQ_CADD_PHRED=1.432 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,59:165:0.35758:65:-100:0.1316:11,20,4,6,3,15,31,53,11,28,14,28:100:100 +17 41609470 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.811+572C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41609470G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7249;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.234474;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:D232int&ETV4:D232intd&ETV4:D270int&ETV4:D270intd&ETV4:D271int&ETV4:D271intd;CSQ_CADD_PHRED=1.432 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,59:165:0.35758:65:-100:0.1316:11,20,4,6,3,15,31,53,11,28,14,28:100:100 +17 41611528 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.257-175G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41611528C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=248;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.00801344;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,12:175:0.06857:65:-100:0.1667:2,5,0,2,3,0,22,71,9,33,17,23:100:100 +17 41611528 . C T 100 PASS DP=175;CSQ_Allele=T;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.257-175G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41611528C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=248;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.00801344;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:163,12:175:0.06857:65:-100:0.1667:2,5,0,2,3,0,22,71,9,33,17,23:100:100 +17 41611534 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.257-181C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41611534G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=410;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0132497;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,24:172:0.13953:65:-100:0.1485:2,12,2,3,2,3,23,65,9,33,14,28:100:100 +17 41611534 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.257-181C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41611534G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=410;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0132497;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,24:172:0.13953:65:-100:0.1485:2,12,2,3,2,3,23,65,9,33,14,28:100:100 +17 41612677 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.256+1117C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41612677G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7155;CSQ_gnomADg_AN=30742;CSQ_gnomADg_AF=0.232743;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.832 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,37:123:0.30081:65:-100:0.2065:6,17,6,3,2,3,16,45,16,17,13,16:100:100 +17 41612677 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.256+1117C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41612677G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7155;CSQ_gnomADg_AN=30742;CSQ_gnomADg_AF=0.232743;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.832 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,37:123:0.30081:65:-100:0.2065:6,17,6,3,2,3,16,45,16,17,13,16:100:100 +17 41612965 . G A 100 PASS DP=174;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.256+829C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41612965G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,15:174:0.08621:65:-100:0.13:3,6,0,3,0,3,32,55,17,30,17,23:100:100 +17 41612965 . G A 100 PASS DP=174;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.256+829C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41612965G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,15:174:0.08621:65:-100:0.13:3,6,0,3,0,3,32,55,17,30,17,23:100:100 +17 41613294 . C A 100 PASS DP=65;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.256+500G>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41613294C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7279;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.235521;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.748 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,15:65:0.23077:65:-100:0.3158:0,5,2,5,1,2,4,23,8,16,5,9:100:100 +17 41613294 . C A 100 PASS DP=65;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.256+500G>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41613294C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7279;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.235521;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.748 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,15:65:0.23077:65:-100:0.3158:0,5,2,5,1,2,4,23,8,16,5,9:100:100 +17 41613461 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.256+333T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41613461A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=488;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0157939;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.817 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,24:125:0.192:65:-100:0.1667:3,12,0,8,1,0,27,43,8,25,10,12:100:100 +17 41613461 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.256+333T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41613461A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=488;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.0157939;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.817 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,24:125:0.192:65:-100:0.1667:3,12,0,8,1,0,27,43,8,25,10,12:100:100 +17 41613691 . G T 100 PASS DP=177;CSQ_Allele=T;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.256+103C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41613691G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1274156;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7289;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.235753;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60044396&COSV60044396&COSV60044396&COSV60044396&COSV60044396&COSV60044396;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:L47int&ETV4:L47intd&ETV4:L86int&ETV4:L86intd&ETV4:P86int&ETV4:P86intd;CSQ_CADD_PHRED=3.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,51:177:0.28814:65:-100:0.1571:11,13,4,12,3,8,31,56,16,31,10,33:100:100 +17 41613691 . G T 100 PASS DP=177;CSQ_Allele=T;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.256+103C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41613691G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1274156;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7289;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.235753;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60044396&COSV60044396&COSV60044396&COSV60044396&COSV60044396&COSV60044396;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:L47int&ETV4:L47intd&ETV4:L86int&ETV4:L86intd&ETV4:P86int&ETV4:P86intd;CSQ_CADD_PHRED=3.526 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,51:177:0.28814:65:-100:0.1571:11,13,4,12,3,8,31,56,16,31,10,33:100:100 +17 41614213 . T C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.203-366A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41614213T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9065;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.293271;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=4.879 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,79:181:0.43646:65:-100:0.1542:9,26,4,11,5,24,26,57,10,31,13,44:100:100 +17 41614213 . T C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.203-366A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41614213T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9065;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.293271;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=4.879 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,79:181:0.43646:65:-100:0.1542:9,26,4,11,5,24,26,57,10,31,13,44:100:100 +17 41615556 . T C 100 PASS DP=77;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.203-1709A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41615556T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6752;CSQ_gnomADg_AN=30298;CSQ_gnomADg_AF=0.222853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=0.369 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,28:77:0.36364:65:-100:0.4867:5,6,8,2,3,4,11,16,14,8,15,13:100:100 +17 41615556 . T C 100 PASS DP=77;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.203-1709A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41615556T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6752;CSQ_gnomADg_AN=30298;CSQ_gnomADg_AF=0.222853;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=0.369 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,28:77:0.36364:65:-100:0.4867:5,6,8,2,3,4,11,16,14,8,15,13:100:100 +17 41615830 . T C 100 PASS DP=203;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.203-1983A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41615830T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8692;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.281458;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=3.686 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,88:203:0.4335:65:-100:0.1174:16,34,9,14,7,8,34,70,15,39,14,31:100:100 +17 41615830 . T C 100 PASS DP=203;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.203-1983A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41615830T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8692;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.281458;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=3.686 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,88:203:0.4335:65:-100:0.1174:16,34,9,14,7,8,34,70,15,39,14,31:100:100 +17 41616033 . G A 100 PASS DP=202;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.203-2186C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41616033G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=410;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0132403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.686 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:167,35:202:0.17327:65:-100:0.1255:2,11,5,6,3,8,32,64,21,36,13,36:100:100 +17 41616033 . G A 100 PASS DP=202;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.203-2186C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41616033G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=410;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0132403;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.686 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:167,35:202:0.17327:65:-100:0.1255:2,11,5,6,3,8,32,64,21,36,13,36:100:100 +17 41616392 . C T 100 PASS DP=214;CSQ_Allele=T;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.203-2545G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41616392C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2443;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0789185;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=9.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:186,28:214:0.13084:65:-100:0.1371:4,12,1,6,2,3,41,74,21,42,11,25:100:100 +17 41616392 . C T 100 PASS DP=214;CSQ_Allele=T;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.203-2545G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41616392C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2443;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0789185;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=9.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:186,28:214:0.13084:65:-100:0.1371:4,12,1,6,2,3,41,74,21,42,11,25:100:100 +17 41616456 . G C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.203-2609C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41616456G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21665;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.700815;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=6.775 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,137:181:0.75691:65:-100:0.1256:24,47,13,28,9,16,26,64,19,40,12,20:100:100 +17 41616456 . G C 100 PASS DP=181;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.203-2609C>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41616456G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21665;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.700815;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29inta&ETV4:A68int&ETV4:A68inta;CSQ_CADD_PHRED=6.775 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,137:181:0.75691:65:-100:0.1256:24,47,13,28,9,16,26,64,19,40,12,20:100:100 +17 41617524 . T TA 100 PASS DP=174;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.203-3678dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41617529dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,27:174:0.15517:65:-100:0:4,9,0,2,4,8,24,60,17,23,16,34:100:100 +17 41617524 . T TA 100 PASS DP=174;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.203-3678dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41617529dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,27:174:0.15517:65:-100:0:4,9,0,2,4,8,24,60,17,23,16,34:100:100 +17 41618176 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+4167C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41618176G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9116;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.295628;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=10.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,39:168:0.23214:65:-100:0.16:9,16,0,3,2,9,24,67,7,24,9,37:100:100 +17 41618176 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+4167C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41618176G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9116;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.295628;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=10.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,39:168:0.23214:65:-100:0.16:9,16,0,3,2,9,24,67,7,24,9,37:100:100 +17 41618566 . C G 100 PASS DP=178;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+3777G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41618566C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9465;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.30637;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DHX8:3UTR&DHX8:3UTRint&DHX8:3UTRinta&ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=14.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,84:178:0.47191:65:-100:0.11:13,21,8,17,7,18,27,58,16,31,15,31:100:100 +17 41618566 . C G 100 PASS DP=178;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+3777G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41618566C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9465;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.30637;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DHX8:3UTR&DHX8:3UTRint&DHX8:3UTRinta&ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=14.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,84:178:0.47191:65:-100:0.11:13,21,8,17,7,18,27,58,16,31,15,31:100:100 +17 41618677 . C G 100 PASS DP=195;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+3666G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41618677C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10310;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.333679;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DHX8:3UTR&DHX8:3UTRint&DHX8:3UTRinta&ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=21.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,90:195:0.46154:65:-100:0.1333:23,26,5,18,7,11,45,62,12,30,15,31:100:100 +17 41618677 . C G 100 PASS DP=195;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+3666G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41618677C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10310;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.333679;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DHX8:3UTR&DHX8:3UTRint&DHX8:3UTRinta&ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=21.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,90:195:0.46154:65:-100:0.1333:23,26,5,18,7,11,45,62,12,30,15,31:100:100 +17 41619648 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+2695C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41619648G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.000129358;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.798 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,10:165:0.06061:65:-100:0.1223:2,4,1,1,0,2,30,56,10,21,12,36:100:100 +17 41619648 . G A 100 PASS DP=165;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+2695C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41619648G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.000129358;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.798 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:155,10:165:0.06061:65:-100:0.1223:2,4,1,1,0,2,30,56,10,21,12,36:100:100 +17 41620035 . C G 100 PASS DP=210;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+2308G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41620035C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8271;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.267982;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=1.574 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,57:210:0.27143:65:-100:0.1463:12,14,3,14,4,10,42,66,13,35,19,35:100:100 +17 41620035 . C G 100 PASS DP=210;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+2308G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41620035C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8271;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.267982;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=1.574 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,57:210:0.27143:65:-100:0.1463:12,14,3,14,4,10,42,66,13,35,19,35:100:100 +17 41620458 . T TC 100 PASS DP=203;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+1884dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41620465dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:191,12:203:0.05911:65:-100:0:6,3,1,0,0,2,42,62,19,40,13,28:100:100 +17 41620458 . T TC 100 PASS DP=203;CSQ_Allele=C;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+1884dup;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41620465dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:191,12:203:0.05911:65:-100:0:6,3,1,0,0,2,42,62,19,40,13,28:100:100 +17 41621013 . C G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+1330G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41621013C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=422;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0136331;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.467 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,34:167:0.20359:65:-100:0.1164:7,14,1,4,3,5,28,55,14,22,14,34:100:100 +17 41621013 . C G 100 PASS DP=167;CSQ_Allele=G;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+1330G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41621013C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=422;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0136331;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.467 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,34:167:0.20359:65:-100:0.1164:7,14,1,4,3,5,28,55,14,22,14,34:100:100 +17 41621156 . T A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+1187A>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41621156T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8429;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.272713;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=10.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,64:169:0.3787:65:-100:0.1198:10,26,8,9,2,9,29,56,18,25,8,33:100:100 +17 41621156 . T A 100 PASS DP=169;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+1187A>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41621156T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8429;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.272713;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=10.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,64:169:0.3787:65:-100:0.1198:10,26,8,9,2,9,29,56,18,25,8,33:100:100 +17 41621999 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.202+344C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41621999G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8378;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.271467;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=5.660 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,44:143:0.30769:65:-100:0.2434:2,19,5,10,1,7,14,63,8,28,10,20:100:100 +17 41621999 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=ETV4;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/12;CSQ_Feature=NM_001986.4;CSQ_HGVSc=NM_001986.4:c.202+344C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41621999G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8378;CSQ_gnomADg_AN=30862;CSQ_gnomADg_AF=0.271467;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:A29int&ETV4:A29intd&ETV4:A68int&ETV4:A68intd;CSQ_CADD_PHRED=5.660 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,44:143:0.30769:65:-100:0.2434:2,19,5,10,1,7,14,63,8,28,10,20:100:100 +17 41623670 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=ETV4;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_001079675.5;CSQ_HGVSc=NM_001079675.5:c.-169G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41623670C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8226;CSQ_gnomADg_AN=30700;CSQ_gnomADg_AF=0.267948;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.32;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ETV4:5UTR;CSQ_CADD_PHRED=18.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,30:96:0.3125:65:-100:0.1193:4,12,3,4,4,3,23,22,16,10,13,12:100:100 +17 41623670 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=ETV4;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001986.4;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=17:g.41623670C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8226;CSQ_gnomADg_AN=30700;CSQ_gnomADg_AF=0.267948;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.32;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.21 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,30:96:0.3125:65:-100:0.1193:4,12,3,4,4,3,23,22,16,10,13,12:100:100 +17 43342141 . G C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=MAP3K14;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_003954.5;CSQ_HGVSc=NM_003954.5:c.2703C>G;CSQ_HGVSp=NP_003945.2:p.Val901%3D;CSQ_HGVSg=17:g.43342141G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1170667;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=NIK_deficiency¬_provided;CSQ_gnomADg_AC=23173;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.749547;CSQ_gnomADe_AC=174340;CSQ_gnomADe_AN=243462;CSQ_gnomADe_AF=0.716087;CSQ_gnomADe_Hom=62562;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.79 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,61:153:0.39869:65:-100:0.199:12,19,4,14,3,9,27,55,11,29,10,21:100:100 +17 43345079 . G A 100 PASS DP=174;CSQ_Allele=A;CSQ_SYMBOL=MAP3K14;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/17;CSQ_INTRON=.;CSQ_Feature=NM_003954.5;CSQ_HGVSc=NM_003954.5:c.2017C>T;CSQ_HGVSp=NP_003945.2:p.His673Tyr;CSQ_HGVSg=17:g.43345079G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=544333;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=NIK_deficiency;CSQ_gnomADg_AC=181;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.00584814;CSQ_gnomADe_AC=402;CSQ_gnomADe_AN=243638;CSQ_gnomADe_AF=0.00164999;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.185;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.00 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,18:174:0.10345:65:-100:0.1256:5,7,1,2,0,3,36,63,18,23,14,20:100:100 +17 43351039 . C G 100 PASS DP=209;CSQ_Allele=G;CSQ_SYMBOL=MAP3K14;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/16;CSQ_Feature=NM_003954.5;CSQ_HGVSc=NM_003954.5:c.1550-65G>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.43351039C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=940;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0303873;CSQ_gnomADe_AC=6839;CSQ_gnomADe_AN=162530;CSQ_gnomADe_AF=0.0420784;CSQ_gnomADe_Hom=372;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=COSV60923319;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:184,24:209:0.11483:65:-100:0.1538:3,11,0,1,3,6,25,86,8,44,11,35:100:100 +17 43364608 . CTCT C 100 PASS DP=190;CSQ_Allele=-;CSQ_SYMBOL=MAP3K14;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_003954.5;CSQ_HGVSc=NM_003954.5:c.446_448del;CSQ_HGVSp=NP_003945.2:p.Lys149del;CSQ_HGVSg=17:g.43364617_43364619del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=3.23227e-05;CSQ_gnomADe_AC=5;CSQ_gnomADe_AN=246142;CSQ_gnomADe_AF=2.03135e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=COSV60923139;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=42;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.37 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:170,20:190:0.10526:65:-100:0:3,6,3,2,4,2,31,75,9,26,21,28:100:100 +17 43366616 . C T 100 PASS DP=166;CSQ_Allele=T;CSQ_SYMBOL=MAP3K14;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/17;CSQ_INTRON=.;CSQ_Feature=NM_003954.5;CSQ_HGVSc=NM_003954.5:c.312G>A;CSQ_HGVSp=NP_003945.2:p.Gly104%3D;CSQ_HGVSg=17:g.43366616C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.70 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,10:166:0.06024:65:-100:0.1217:1,3,0,3,1,2,30,62,10,26,12,26:100:100 +17 46804330 . C T 100 PASS DP=201;CSQ_Allele=T;CSQ_SYMBOL=HOXB13;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_006361.6;CSQ_HGVSc=NM_006361.6:c.677G>A;CSQ_HGVSp=NP_006352.2:p.Gly226Glu;CSQ_HGVSg=17:g.46804330C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=826616;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=0.457;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:194,7:201:0.03483:65:-100:0.078:1,2,1,2,0,1,31,63,11,39,22,35:76.638:100 +17 46805590 . G A 100 PASS DP=172;CSQ_Allele=A;CSQ_SYMBOL=HOXB13;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/2;CSQ_INTRON=.;CSQ_Feature=NM_006361.6;CSQ_HGVSc=NM_006361.6:c.366C>T;CSQ_HGVSp=NP_006352.2:p.Ser122%3D;CSQ_HGVSg=17:g.46805590G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=480873;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5395;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.174822;CSQ_gnomADe_AC=35677;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.144904;CSQ_gnomADe_Hom=3009;CSQ_COSMICcMuts=COSV51705398;CSQ_COSMICncMuts=COSV51705398&COSV51705398&COSV51705398&COSV51705398;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=HOXB13:S122S;CSQ_CADD_PHRED=9.812 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,30:172:0.17442:65:-100:0.1269:6,10,2,6,3,3,31,61,8,36,14,22:100:100 +17 56435160 . AC A 100 PASS DP=176;CSQ_Allele=-;CSQ_SYMBOL=RNF43;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_017763.6;CSQ_HGVSc=NM_017763.6:c.1976del;CSQ_HGVSp=NP_060233.3:p.Gly659ValfsTer41;CSQ_HGVSg=17:g.56435167del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1319731;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Sessile_serrated_polyposis_cancer_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV68456684&COSV68456684&COSV68456684&COSV68456684&COSV68456684&COSV68456684&COSV68456684;CSQ_COSMICncMuts=COSV68456684&COSV68456684&COSV68456684&COSV68456684&COSV68456684&COSV68456684;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,41:176:0.23295:65:-100:0:7,12,2,7,7,6,30,62,10,24,21,29:100:100 +17 56435373 . C T 100 PASS DP=198;CSQ_Allele=T;CSQ_SYMBOL=RNF43;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_017763.6;CSQ_HGVSc=NM_017763.6:c.1764G>A;CSQ_HGVSp=NP_060233.3:p.Gln588%3D;CSQ_HGVSg=17:g.56435373C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV101348409&COSV101348409&COSV101348409&COSV101348409&COSV101348409&COSV101348409&COSV101348409;CSQ_COSMICncMuts=COSV101348409&COSV101348409&COSV101348409&COSV101348409&COSV101348409&COSV101348409;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.148 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:189,9:198:0.04545:65:-100:0.0917:2,5,0,0,0,2,27,75,27,27,12,30:100:100 +17 56435492 . G T 100 PASS DP=171;CSQ_Allele=T;CSQ_SYMBOL=RNF43;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_017763.6;CSQ_HGVSc=NM_017763.6:c.1645C>A;CSQ_HGVSp=NP_060233.3:p.His549Asn;CSQ_HGVSg=17:g.56435492G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV68459265&COSV68459265&COSV68459265&COSV68459265&COSV68459265&COSV68459265&COSV68459265;CSQ_COSMICncMuts=COSV68459265&COSV68459265&COSV68459265&COSV68459265&COSV68459265;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=0.226;CSQ_Mastermind_MMID3=RNF43:H549N;CSQ_CADD_PHRED=25.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,17:171:0.09942:65:-100:0.145:1,8,0,3,2,3,23,68,19,24,11,26:100:100 +17 56435885 . G T 100 PASS DP=197;CSQ_Allele=T;CSQ_SYMBOL=RNF43;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/10;CSQ_INTRON=.;CSQ_Feature=NM_017763.6;CSQ_HGVSc=NM_017763.6:c.1252C>A;CSQ_HGVSp=NP_060233.3:p.Leu418Met;CSQ_HGVSg=17:g.56435885G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=403384;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=11529;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.373615;CSQ_gnomADe_AC=96295;CSQ_gnomADe_AN=244134;CSQ_gnomADe_AF=0.394435;CSQ_gnomADe_Hom=19799;CSQ_COSMICcMuts=COSV68456749&COSV68456749&COSV68456749&COSV68456749&COSV68456749&COSV68456749&COSV68456749;CSQ_COSMICncMuts=COSV68456749&COSV68456749&COSV68456749;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=0.106;CSQ_Mastermind_MMID3=RNF43:L291M&RNF43:L418M;CSQ_CADD_PHRED=21.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,91:197:0.46193:65:-100:0.1688:11,38,6,15,7,14,30,85,16,27,12,27:100:100 +17 56438301 . G A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=RNF43;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/10;CSQ_INTRON=.;CSQ_Feature=NM_017763.6;CSQ_HGVSc=NM_017763.6:c.692C>T;CSQ_HGVSp=NP_060233.3:p.Pro231Leu;CSQ_HGVSg=17:g.56438301G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1166451;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=3999;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.1293;CSQ_gnomADe_AC=30969;CSQ_gnomADe_AN=214898;CSQ_gnomADe_AF=0.14411;CSQ_gnomADe_Hom=2648;CSQ_COSMICcMuts=COSV68457515&COSV68457515&COSV68457515&COSV68457515&COSV68457515&COSV68457515&COSV68457515;CSQ_COSMICncMuts=COSV68457515;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.140;CSQ_Mastermind_MMID3=RNF43:P104L&RNF43:P231L;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,25:136:0.18382:65:-100:0.1282:2,11,2,6,2,2,20,51,9,27,12,17:100:100 +17 56448297 . C T 100 PASS DP=199;CSQ_Allele=T;CSQ_SYMBOL=RNF43;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_017763.6;CSQ_HGVSc=NM_017763.6:c.350G>A;CSQ_HGVSp=NP_060233.3:p.Arg117His;CSQ_HGVSg=17:g.56448297C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1165517;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=4706;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.152614;CSQ_gnomADe_AC=37598;CSQ_gnomADe_AN=238832;CSQ_gnomADe_AF=0.157424;CSQ_gnomADe_Hom=4012;CSQ_COSMICcMuts=COSV68457011&COSV68457011&COSV68457011&COSV68457011&COSV68457011&COSV68457011&COSV68457011;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=0.136;CSQ_Mastermind_MMID3=RNF43:5UTR&RNF43:R117H;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:151,47:199:0.23618:65:-100:0.131:7,15,4,12,6,3,32,71,18,36,19,23:100:100 +17 56448297 . CG C 100 PASS DP=199;CSQ_Allele=-;CSQ_SYMBOL=RNF43;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_017763.6;CSQ_HGVSc=NM_017763.6:c.349del;CSQ_HGVSp=NP_060233.3:p.Arg117AlafsTer41;CSQ_HGVSg=17:g.56448303del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=238832;CSQ_gnomADe_AF=8.37409e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV68456762&COSV68456762&COSV68456762&COSV68456762&COSV68456762&COSV68456762&COSV68456762;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,23:199:0.11558:65:-100:0:6,7,1,4,1,4,32,72,17,36,19,23:100:100 +17 56492800 . T C 100 PASS DP=162;CSQ_Allele=C;CSQ_SYMBOL=RNF43;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_017763.6;CSQ_HGVSc=NM_017763.6:c.139A>G;CSQ_HGVSp=NP_060233.3:p.Ile47Val;CSQ_HGVSg=17:g.56492800T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=403385;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=10722;CSQ_gnomADg_AN=30926;CSQ_gnomADg_AF=0.346699;CSQ_gnomADe_AC=101383;CSQ_gnomADe_AN=246186;CSQ_gnomADe_AF=0.411815;CSQ_gnomADe_Hom=22003;CSQ_COSMICcMuts=COSV60415571&COSV60415571&COSV60415571&COSV60415571&COSV60415571&COSV60415571;CSQ_COSMICncMuts=COSV60415571&COSV60415571;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.062;CSQ_Mastermind_MMID3=RNF43:I47V;CSQ_CADD_PHRED=16.64 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,64:162:0.39506:65:-100:0.1337:8,29,4,13,1,9,23,62,15,26,11,25:100:100 +17 57973920 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.141+3234T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57973920T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8115;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.262485;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:5UTR&RPS6KB1:5UTRint&RPS6KB1:5UTRintd&RPS6KB1:G24int&RPS6KB1:G24intd&RPS6KB1:G47int&RPS6KB1:G47intd;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,28:136:0.20588:65:-100:0.1856:6,5,2,8,2,5,24,48,10,28,9,17:100:100 +17 57973920 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/15;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.-19+2635T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57973920T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8115;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.262485;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:5UTR&RPS6KB1:5UTRint&RPS6KB1:5UTRintd&RPS6KB1:G24int&RPS6KB1:G24intd&RPS6KB1:G47int&RPS6KB1:G47intd;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,28:136:0.20588:65:-100:0.1856:6,5,2,8,2,5,24,48,10,28,9,17:100:100 +17 57973920 . T C 100 PASS DP=136;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.141+3234T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57973920T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8115;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.262485;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=15;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:5UTR&RPS6KB1:5UTRint&RPS6KB1:5UTRintd&RPS6KB1:G24int&RPS6KB1:G24intd&RPS6KB1:G47int&RPS6KB1:G47intd;CSQ_CADD_PHRED=12.63 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,28:136:0.20588:65:-100:0.1856:6,5,2,8,2,5,24,48,10,28,9,17:100:100 +17 57980197 . C A 100 PASS DP=92;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.142-7726C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57980197C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.454 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,9:92:0.09783:65:-100:0.2459:3,2,2,0,1,1,22,20,17,9,10,14:99.757:100 +17 57980197 . C A 100 PASS DP=92;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/15;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.-18-7726C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57980197C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.454 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,9:92:0.09783:65:-100:0.2459:3,2,2,0,1,1,22,20,17,9,10,14:99.757:100 +17 57980197 . C A 100 PASS DP=92;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.142-7726C>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57980197C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.454 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,9:92:0.09783:65:-100:0.2459:3,2,2,0,1,1,22,20,17,9,10,14:99.757:100 +17 57986711 . T C 100 PASS DP=32;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.142-1212T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57986711T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28424;CSQ_gnomADg_AN=28424;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.743 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,32:32:1:65:-100:0.4286:0,15,2,3,2,10,0,15,2,3,2,10:100:100 +17 57986711 . T C 100 PASS DP=32;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/15;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.-18-1212T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57986711T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28424;CSQ_gnomADg_AN=28424;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.743 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,32:32:1:65:-100:0.4286:0,15,2,3,2,10,0,15,2,3,2,10:100:100 +17 57986711 . T C 100 PASS DP=32;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/14;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.142-1212T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57986711T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=28424;CSQ_gnomADg_AN=28424;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.743 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,32:32:1:65:-100:0.4286:0,15,2,3,2,10,0,15,2,3,2,10:100:100 +17 57991375 . T G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.312+1210T>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57991375T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8110;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.262375;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.559 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,16:140:0.11429:65:-100:0.2045:4,6,0,2,2,2,37,41,17,15,11,19:100:100 +17 57991375 . T G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/15;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.154-621T>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57991375T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8110;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.262375;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.559 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,16:140:0.11429:65:-100:0.2045:4,6,0,2,2,2,37,41,17,15,11,19:100:100 +17 57991375 . T G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/14;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.313-621T>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57991375T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8110;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.262375;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.559 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:124,16:140:0.11429:65:-100:0.2045:4,6,0,2,2,2,37,41,17,15,11,19:100:100 +17 57994753 . A G 100 PASS DP=87;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.312+4588A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57994753A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4263;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.137854;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.917 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,8:87:0.09195:65:-100:0.304:2,1,1,0,3,1,16,12,16,15,15,13:64.207:100 +17 57994753 . A G 100 PASS DP=87;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/15;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.222+2689A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57994753A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4263;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.137854;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.917 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,8:87:0.09195:65:-100:0.304:2,1,1,0,3,1,16,12,16,15,15,13:64.207:100 +17 57994753 . A G 100 PASS DP=87;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/14;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.381+2689A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57994753A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4263;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.137854;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.917 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,8:87:0.09195:65:-100:0.304:2,1,1,0,3,1,16,12,16,15,15,13:64.207:100 +17 57996806 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.312+6641G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57996806G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10218;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.33113;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:G47int&RPS6KB1:G47inta&RPS6KB1:K104int&RPS6KB1:K104intd&RPS6KB1:K127int&RPS6KB1:K127intd&RPS6KB1:K74int&RPS6KB1:K74intd;CSQ_CADD_PHRED=1.437 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,65:163:0.39877:65:-100:0.1554:8,16,8,13,9,11,21,50,17,28,20,27:100:100 +17 57996806 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/15;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.222+4742G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57996806G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10218;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.33113;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:G47int&RPS6KB1:G47inta&RPS6KB1:K104int&RPS6KB1:K104intd&RPS6KB1:K127int&RPS6KB1:K127intd&RPS6KB1:K74int&RPS6KB1:K74intd;CSQ_CADD_PHRED=1.437 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,65:163:0.39877:65:-100:0.1554:8,16,8,13,9,11,21,50,17,28,20,27:100:100 +17 57996806 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/14;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.381+4742G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57996806G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10218;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.33113;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:G47int&RPS6KB1:G47inta&RPS6KB1:K104int&RPS6KB1:K104intd&RPS6KB1:K127int&RPS6KB1:K127intd&RPS6KB1:K74int&RPS6KB1:K74intd;CSQ_CADD_PHRED=1.437 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,65:163:0.39877:65:-100:0.1554:8,16,8,13,9,11,21,50,17,28,20,27:100:100 +17 57997015 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.313-6781T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57997015T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4223;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.137039;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:G47int&RPS6KB1:G47inta&RPS6KB1:K104int&RPS6KB1:K104inta&RPS6KB1:K104intd&RPS6KB1:K127int&RPS6KB1:K127intd&RPS6KB1:K74int&RPS6KB1:K74intd;CSQ_CADD_PHRED=6.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,21:168:0.125:65:-100:0.1845:3,6,5,2,3,2,22,57,11,27,21,30:100:100 +17 57997015 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/15;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.222+4951T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57997015T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4223;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.137039;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:G47int&RPS6KB1:G47inta&RPS6KB1:K104int&RPS6KB1:K104inta&RPS6KB1:K104intd&RPS6KB1:K127int&RPS6KB1:K127intd&RPS6KB1:K74int&RPS6KB1:K74intd;CSQ_CADD_PHRED=6.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,21:168:0.125:65:-100:0.1845:3,6,5,2,3,2,22,57,11,27,21,30:100:100 +17 57997015 . T C 100 PASS DP=168;CSQ_Allele=C;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/14;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.381+4951T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.57997015T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4223;CSQ_gnomADg_AN=30816;CSQ_gnomADg_AF=0.137039;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPS6KB1:G47int&RPS6KB1:G47inta&RPS6KB1:K104int&RPS6KB1:K104inta&RPS6KB1:K104intd&RPS6KB1:K127int&RPS6KB1:K127intd&RPS6KB1:K74int&RPS6KB1:K74intd;CSQ_CADD_PHRED=6.736 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,21:168:0.125:65:-100:0.1845:3,6,5,2,3,2,22,57,11,27,21,30:100:100 +17 58024014 . A T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.1374A>T;CSQ_HGVSp=NP_001258971.1:p.Ile458%3D;CSQ_HGVSg=17:g.58024014A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,7:183:0.03825:65:-94.422:0.1327:1,2,0,1,0,3,21,80,13,30,10,29:72.699:100 +17 58024014 . A T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.1284A>T;CSQ_HGVSp=NP_001258973.1:p.Ile428%3D;CSQ_HGVSg=17:g.58024014A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,7:183:0.03825:65:-94.422:0.1327:1,2,0,1,0,3,21,80,13,30,10,29:72.699:100 +17 58024014 . A T 100 PASS DP=183;CSQ_Allele=T;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.1443A>T;CSQ_HGVSp=NP_003152.1:p.Ile481%3D;CSQ_HGVSg=17:g.58024014A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,7:183:0.03825:65:-94.422:0.1327:1,2,0,1,0,3,21,80,13,30,10,29:72.699:100 +17 58024224 . C CAA 100 PASS DP=183;CSQ_Allele=AA;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.*75_*76insAA;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024224_58024225insAA;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10157;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.329409;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56674897&COSV56674897&COSV56674897&COSV56674897&COSV56674897;CSQ_COSMICncMuts=COSV56674897;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,65:183:0.35519:65:-100:0:7,24,6,10,8,10,32,63,25,31,13,21:100:100 +17 58024224 . C CAA 100 PASS DP=183;CSQ_Allele=AA;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.*75_*76insAA;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024224_58024225insAA;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10157;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.329409;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56674897&COSV56674897&COSV56674897&COSV56674897&COSV56674897;CSQ_COSMICncMuts=COSV56674897;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,65:183:0.35519:65:-100:0:7,24,6,10,8,10,32,63,25,31,13,21:100:100 +17 58024224 . C CAA 100 PASS DP=183;CSQ_Allele=AA;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.*75_*76insAA;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024224_58024225insAA;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10157;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.329409;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56674897&COSV56674897&COSV56674897&COSV56674897&COSV56674897;CSQ_COSMICncMuts=COSV56674897;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,65:183:0.35519:65:-100:0:7,24,6,10,8,10,32,63,25,31,13,21:100:100 +17 58024275 . A G 100 PASS DP=186;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.*126A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024275A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10181;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.329781;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,68:186:0.36559:65:-100:0.1842:11,24,7,10,3,13,28,71,20,30,13,24:100:100 +17 58024275 . A G 100 PASS DP=186;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.*126A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024275A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10181;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.329781;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,68:186:0.36559:65:-100:0.1842:11,24,7,10,3,13,28,71,20,30,13,24:100:100 +17 58024275 . A G 100 PASS DP=186;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.*126A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024275A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10181;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.329781;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.51 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,68:186:0.36559:65:-100:0.1842:11,24,7,10,3,13,28,71,20,30,13,24:100:100 +17 58024324 . A G 100 PASS DP=183;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.*175A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024324A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4764;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.154245;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,53:183:0.28962:65:-100:0.1488:6,20,5,9,2,11,30,66,16,30,13,28:100:100 +17 58024324 . A G 100 PASS DP=183;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.*175A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024324A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4764;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.154245;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,53:183:0.28962:65:-100:0.1488:6,20,5,9,2,11,30,66,16,30,13,28:100:100 +17 58024324 . A G 100 PASS DP=183;CSQ_Allele=G;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.*175A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024324A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4764;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.154245;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,53:183:0.28962:65:-100:0.1488:6,20,5,9,2,11,30,66,16,30,13,28:100:100 +17 58024865 . T A 100 PASS DP=162;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001272042.2;CSQ_HGVSc=NM_001272042.2:c.*716T>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024865T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,13:162:0.08025:65:-100:0.1735:3,3,1,2,4,0,31,62,11,24,14,20:100:100 +17 58024865 . T A 100 PASS DP=162;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=16/16;CSQ_INTRON=.;CSQ_Feature=NM_001272044.2;CSQ_HGVSc=NM_001272044.2:c.*716T>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024865T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,13:162:0.08025:65:-100:0.1735:3,3,1,2,4,0,31,62,11,24,14,20:100:100 +17 58024865 . T A 100 PASS DP=162;CSQ_Allele=A;CSQ_SYMBOL=RPS6KB1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=15/15;CSQ_INTRON=.;CSQ_Feature=NM_003161.4;CSQ_HGVSc=NM_003161.4:c.*716T>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.58024865T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.93 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:149,13:162:0.08025:65:-100:0.1735:3,3,1,2,4,0,31,62,11,24,14,20:100:100 +17 59760753 . T C 100 PASS DP=121;CSQ_Allele=C;CSQ_SYMBOL=BRIP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_032043.3;CSQ_HGVSc=NM_032043.3:c.3654A>G;CSQ_HGVSp=NP_114432.2:p.Ile1218Met;CSQ_HGVSg=17:g.59760753T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.086;CSQ_Mastermind_MMID3=BRIP1:I1218M;CSQ_CADD_PHRED=8.768 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,6:121:0.04959:65:-98.0466:0.1655:1,1,0,3,0,1,20,32,11,23,14,21:79.856:100 +17 59760996 . A G 100 PASS DP=129;CSQ_Allele=G;CSQ_SYMBOL=BRIP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_032043.3;CSQ_HGVSc=NM_032043.3:c.3411T>C;CSQ_HGVSp=NP_114432.2:p.Tyr1137%3D;CSQ_HGVSg=17:g.59760996A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183702;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_J&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=17991;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.582421;CSQ_gnomADe_AC=146251;CSQ_gnomADe_AN=244856;CSQ_gnomADe_AF=0.597294;CSQ_gnomADe_Hom=45314;CSQ_COSMICcMuts=COSV51995377;CSQ_COSMICncMuts=COSV51995377;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-11;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRIP1:Y1137Y;CSQ_CADD_PHRED=9.031 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:26,103:129:0.79845:65:-100:0.1783:15,34,11,11,8,24,20,44,14,16,9,26:100:100 +17 59763347 . A G 100 PASS DP=161;CSQ_Allele=G;CSQ_SYMBOL=BRIP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/20;CSQ_INTRON=.;CSQ_Feature=NM_032043.3;CSQ_HGVSc=NM_032043.3:c.2755T>C;CSQ_HGVSp=NP_114432.2:p.Ser919Pro;CSQ_HGVSg=17:g.59763347A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=133756;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_J&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=18194;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.589337;CSQ_gnomADe_AC=147651;CSQ_gnomADe_AN=246158;CSQ_gnomADe_AF=0.599822;CSQ_gnomADe_Hom=46002;CSQ_COSMICcMuts=COSV51995396&COSV51995396;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=0.088;CSQ_Mastermind_MMID3=BRIP1:S919P;CSQ_CADD_PHRED=1.499 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,126:161:0.78261:65:-100:0.1344:26,41,11,19,12,17,35,53,15,22,14,22:100:100 +17 59763465 . T C 100 PASS DP=128;CSQ_Allele=C;CSQ_SYMBOL=BRIP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/20;CSQ_INTRON=.;CSQ_Feature=NM_032043.3;CSQ_HGVSc=NM_032043.3:c.2637A>G;CSQ_HGVSp=NP_114432.2:p.Glu879%3D;CSQ_HGVSg=17:g.59763465T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=183703;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Neoplasm_of_ovary&Hereditary_breast_ovarian_cancer_syndrome&Fanconi_anemia_complementation_group_J&Hereditary_cancer-predisposing_syndrome&Familial_cancer_of_breast¬_specified¬_provided;CSQ_gnomADg_AC=22181;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.717832;CSQ_gnomADe_AC=176173;CSQ_gnomADe_AN=246094;CSQ_gnomADe_AF=0.715877;CSQ_gnomADe_Hom=64801;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRIP1:E879E;CSQ_CADD_PHRED=9.957 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:30,98:128:0.76563:65:-100:0.1742:16,31,7,24,8,12,22,39,11,29,11,16:100:100 +17 62007498 . A G 100 PASS DP=183;CSQ_Allele=G;CSQ_SYMBOL=CD79B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_000626.4;CSQ_HGVSc=NM_000626.4:c.366T>C;CSQ_HGVSp=NP_000617.1:p.Cys122%3D;CSQ_HGVSg=17:g.62007498A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402520;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Agammaglobulinemia_6&_autosomal_recessive¬_specified¬_provided;CSQ_gnomADg_AC=19773;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.641065;CSQ_gnomADe_AC=144626;CSQ_gnomADe_AN=245730;CSQ_gnomADe_AF=0.588557;CSQ_gnomADe_Hom=43556;CSQ_COSMICcMuts=COSV50075913&COSV50075913&COSV50075913;CSQ_COSMICncMuts=COSV50075913&COSV50075913;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD79B:C122C&CD79B:C123C&CD79B:G40int&CD79B:G40inta&CD79B:G41int&CD79B:G41inta;CSQ_CADD_PHRED=6.676 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,77:183:0.42077:65:-100:0.1159:14,23,7,16,7,10,31,56,14,32,18,32:100:100 +17 62007498 . A G 100 PASS DP=183;CSQ_Allele=G;CSQ_SYMBOL=CD79B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_001039933.3;CSQ_HGVSc=NM_001039933.3:c.369T>C;CSQ_HGVSp=NP_001035022.1:p.Cys123%3D;CSQ_HGVSg=17:g.62007498A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402520;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Agammaglobulinemia_6&_autosomal_recessive¬_specified¬_provided;CSQ_gnomADg_AC=19773;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.641065;CSQ_gnomADe_AC=144626;CSQ_gnomADe_AN=245730;CSQ_gnomADe_AF=0.588557;CSQ_gnomADe_Hom=43556;CSQ_COSMICcMuts=COSV50075913&COSV50075913&COSV50075913;CSQ_COSMICncMuts=COSV50075913&COSV50075913;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD79B:C122C&CD79B:C123C&CD79B:G40int&CD79B:G40inta&CD79B:G41int&CD79B:G41inta;CSQ_CADD_PHRED=6.676 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,77:183:0.42077:65:-100:0.1159:14,23,7,16,7,10,31,56,14,32,18,32:100:100 +17 62007498 . A G 100 PASS DP=183;CSQ_Allele=G;CSQ_SYMBOL=CD79B;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_021602.4;CSQ_HGVSc=NM_021602.4:c.119-250T>C;CSQ_HGVSp=.;CSQ_HGVSg=17:g.62007498A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402520;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Agammaglobulinemia_6&_autosomal_recessive¬_specified¬_provided;CSQ_gnomADg_AC=19773;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.641065;CSQ_gnomADe_AC=144626;CSQ_gnomADe_AN=245730;CSQ_gnomADe_AF=0.588557;CSQ_gnomADe_Hom=43556;CSQ_COSMICcMuts=COSV50075913&COSV50075913&COSV50075913;CSQ_COSMICncMuts=COSV50075913&COSV50075913;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CD79B:C122C&CD79B:C123C&CD79B:G40int&CD79B:G40inta&CD79B:G41int&CD79B:G41inta;CSQ_CADD_PHRED=6.676 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,77:183:0.42077:65:-100:0.1159:14,23,7,16,7,10,31,56,14,32,18,32:100:100 +17 62007560 . C T 100 PASS DP=208;CSQ_Allele=T;CSQ_SYMBOL=CD79B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_000626.4;CSQ_HGVSc=NM_000626.4:c.304G>A;CSQ_HGVSp=NP_000617.1:p.Glu102Lys;CSQ_HGVSg=17:g.62007560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1414841;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Agammaglobulinemia_6&_autosomal_recessive;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50075959&COSV50075959&COSV50075959;CSQ_COSMICncMuts=COSV50075959&COSV50075959;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=0.096;CSQ_Mastermind_MMID3=CD79B:E102K&CD79B:E103K;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,29:208:0.13942:65:-100:0.1713:6,9,2,5,3,4,39,70,19,30,21,29:100:100 +17 62007560 . C T 100 PASS DP=208;CSQ_Allele=T;CSQ_SYMBOL=CD79B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_001039933.3;CSQ_HGVSc=NM_001039933.3:c.307G>A;CSQ_HGVSp=NP_001035022.1:p.Glu103Lys;CSQ_HGVSg=17:g.62007560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1414841;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Agammaglobulinemia_6&_autosomal_recessive;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50075959&COSV50075959&COSV50075959;CSQ_COSMICncMuts=COSV50075959&COSV50075959;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=0.096;CSQ_Mastermind_MMID3=CD79B:E102K&CD79B:E103K;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,29:208:0.13942:65:-100:0.1713:6,9,2,5,3,4,39,70,19,30,21,29:100:100 +17 62007560 . C T 100 PASS DP=208;CSQ_Allele=T;CSQ_SYMBOL=CD79B;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/4;CSQ_Feature=NM_021602.4;CSQ_HGVSc=NM_021602.4:c.119-312G>A;CSQ_HGVSp=.;CSQ_HGVSg=17:g.62007560C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1414841;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Agammaglobulinemia_6&_autosomal_recessive;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50075959&COSV50075959&COSV50075959;CSQ_COSMICncMuts=COSV50075959&COSV50075959;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,29:208:0.13942:65:-100:0.1713:6,9,2,5,3,4,39,70,19,30,21,29:100:100 +17 63010408 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=GNA13;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001282425.2;CSQ_HGVSc=NM_001282425.2:c.816G>A;CSQ_HGVSp=NP_001269354.1:p.Leu272%3D;CSQ_HGVSg=17:g.63010408C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=773331;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=53;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00171078;CSQ_gnomADe_AC=693;CSQ_gnomADe_AN=245974;CSQ_gnomADe_AF=0.00281737;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV101457456&COSV101457456;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.842 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,11:158:0.06962:65:-100:0.1222:4,3,2,1,1,0,24,65,15,23,11,20:100:100 +17 63010408 . C T 100 PASS DP=158;CSQ_Allele=T;CSQ_SYMBOL=GNA13;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_006572.6;CSQ_HGVSc=NM_006572.6:c.1101G>A;CSQ_HGVSp=NP_006563.2:p.Leu367%3D;CSQ_HGVSg=17:g.63010408C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=773331;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=53;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00171078;CSQ_gnomADe_AC=693;CSQ_gnomADe_AN=245974;CSQ_gnomADe_AF=0.00281737;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV101457456&COSV101457456;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.842 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,11:158:0.06962:65:-100:0.1222:4,3,2,1,1,0,24,65,15,23,11,20:100:100 +17 63533768 . G A 100 PASS DP=162;CSQ_Allele=A;CSQ_SYMBOL=AXIN2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_004655.4;CSQ_HGVSc=NM_004655.4:c.1386C>T;CSQ_HGVSp=NP_004646.3:p.Pro462%3D;CSQ_HGVSg=17:g.63533768G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259510;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_colon&Oligodontia-cancer_predisposition_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=15917;CSQ_gnomADg_AN=30674;CSQ_gnomADg_AF=0.518909;CSQ_gnomADe_AC=108815;CSQ_gnomADe_AN=180714;CSQ_gnomADe_AF=0.602139;CSQ_gnomADe_Hom=34060;CSQ_COSMICcMuts=COSV61055294&COSV61055294;CSQ_COSMICncMuts=COSV61055294&COSV61055294;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN2:P462P;CSQ_CADD_PHRED=9.220 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:69,93:162:0.57407:65:-100:0.202:16,29,9,14,12,13,27,54,13,23,19,26:100:100 +17 63533789 . T C 100 PASS DP=164;CSQ_Allele=C;CSQ_SYMBOL=AXIN2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_004655.4;CSQ_HGVSc=NM_004655.4:c.1365A>G;CSQ_HGVSp=NP_004646.3:p.Pro455%3D;CSQ_HGVSg=17:g.63533789T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259509;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oligodontia-cancer_predisposition_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=27538;CSQ_gnomADg_AN=30730;CSQ_gnomADg_AF=0.896128;CSQ_gnomADe_AC=149405;CSQ_gnomADe_AN=165556;CSQ_gnomADe_AF=0.902444;CSQ_gnomADe_Hom=67530;CSQ_COSMICcMuts=COSV61055320&COSV61055320;CSQ_COSMICncMuts=COSV61055320&COSV61055320;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN2:P455P;CSQ_CADD_PHRED=7.519 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:11,153:164:0.93293:65:-100:0.18:26,49,17,21,15,25,28,50,18,23,17,28:100:100 +17 63534250 . T C 100 PASS DP=193;CSQ_Allele=C;CSQ_SYMBOL=AXIN2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_004655.4;CSQ_HGVSc=NM_004655.4:c.1200+71A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.63534250T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1192414;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oligodontia-cancer_predisposition_syndrome¬_provided;CSQ_gnomADg_AC=27540;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.891031;CSQ_gnomADe_AC=214821;CSQ_gnomADe_AN=239180;CSQ_gnomADe_AF=0.898156;CSQ_gnomADe_Hom=96575;CSQ_COSMICcMuts=COSV61055277&COSV61055277;CSQ_COSMICncMuts=COSV61055277;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-14;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXIN2:E400int&AXIN2:E400intd;CSQ_CADD_PHRED=0.145 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:5,188:193:0.97409:65:-100:0.1787:28,76,18,26,9,31,28,79,19,26,10,31:100:100 +17 63534285 . T A 100 PASS DP=189;CSQ_Allele=A;CSQ_SYMBOL=AXIN2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/10;CSQ_Feature=NM_004655.4;CSQ_HGVSc=NM_004655.4:c.1200+36A>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.63534285T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=6.4658e-05;CSQ_gnomADe_AC=16;CSQ_gnomADe_AN=244102;CSQ_gnomADe_AF=6.55464e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.116 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:176,13:189:0.06878:65:-100:0.1674:3,4,0,1,3,2,36,62,23,24,17,27:100:100 +17 63554591 . G A 100 PASS DP=198;CSQ_Allele=A;CSQ_SYMBOL=AXIN2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_004655.4;CSQ_HGVSc=NM_004655.4:c.148C>T;CSQ_HGVSp=NP_004646.3:p.Pro50Ser;CSQ_HGVSg=17:g.63554591G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=259511;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oligodontia-cancer_predisposition_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=12507;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.404915;CSQ_gnomADe_AC=114976;CSQ_gnomADe_AN=241702;CSQ_gnomADe_AF=0.475693;CSQ_gnomADe_Hom=29214;CSQ_COSMICcMuts=COSV61057354&COSV61057354;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=42;CSQ_REVEL=0.126;CSQ_Mastermind_MMID3=AXIN2:P50S;CSQ_CADD_PHRED=13.47 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,45:198:0.22727:65:-100:0.1538:8,19,3,7,2,6,31,79,11,32,13,32:100:100 +17 70117856 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=SOX9;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_000346.4;CSQ_HGVSc=NM_000346.4:c.324C>T;CSQ_HGVSp=NP_000337.1:p.Pro108%3D;CSQ_HGVSg=17:g.70117856C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.42 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,7:130:0.05385:65:-100:0.1875:1,1,1,3,1,0,18,48,11,17,14,22:83.803:100 +17 70118935 . C T 100 PASS DP=186;CSQ_Allele=T;CSQ_SYMBOL=SOX9;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_000346.4;CSQ_HGVSc=NM_000346.4:c.507C>T;CSQ_HGVSp=NP_000337.1:p.His169%3D;CSQ_HGVSg=17:g.70118935C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=21164;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Connective_tissue_disorder&Camptomelic_dysplasia¬_specified¬_provided;CSQ_gnomADg_AC=5321;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.172156;CSQ_gnomADe_AC=47652;CSQ_gnomADe_AN=246036;CSQ_gnomADe_AF=0.193679;CSQ_gnomADe_Hom=5570;CSQ_COSMICcMuts=COSV55423138;CSQ_COSMICncMuts=COSV55423138&COSV55423138&COSV55423138&COSV55423138;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SOX9:H169H;CSQ_CADD_PHRED=12.11 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:161,25:186:0.13441:65:-100:0.1507:4,7,3,2,4,5,26,61,16,33,20,30:100:100 +17 70119007 . G GGAGC 100 PASS DP=191;CSQ_Allele=GAGC;CSQ_SYMBOL=SOX9;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_000346.4;CSQ_HGVSc=NM_000346.4:c.580_583dup;CSQ_HGVSp=NP_000337.1:p.Gln195ArgfsTer58;CSQ_HGVSg=17:g.70119008_70119011dup;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55422589;CSQ_COSMICncMuts=COSV55422589&COSV55422589&COSV55422589&COSV55422589;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SOX9:Q195fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,18:191:0.09424:65:-100:0:2,5,1,9,0,1,32,68,5,42,25,23:100:100 +17 73775157 . G A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=H3F3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_005324.5;CSQ_HGVSc=NM_005324.5:c.99C>T;CSQ_HGVSp=NP_005315.1:p.Thr33%3D;CSQ_HGVSg=17:g.73775157G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=280;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.00905621;CSQ_gnomADe_AC=553;CSQ_gnomADe_AN=238240;CSQ_gnomADe_AF=0.00232119;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,11:110:0.1:65:-100:0.1473:1,3,0,0,2,5,20,33,7,16,8,26:100:100 +17 74732507 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=SRSF2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_001195427.2;CSQ_HGVSc=NM_001195427.2:c.402T>C;CSQ_HGVSp=NP_001182356.1:p.Ser134%3D;CSQ_HGVSg=17:g.74732507A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30624;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.991646;CSQ_gnomADe_AC=242382;CSQ_gnomADe_AN=242914;CSQ_gnomADe_AF=0.99781;CSQ_gnomADe_Hom=120933;CSQ_COSMICcMuts=COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985;CSQ_COSMICncMuts=COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985&COSV57969985;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SRSF2:S134S;CSQ_CADD_PHRED=13.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,121:121:1:65:-100:0.1103:34,34,10,9,14,20,34,34,10,9,14,20:100:100 +17 74733099 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=SRSF2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_001195427.2;CSQ_HGVSc=NM_001195427.2:c.144C>T;CSQ_HGVSp=NP_001182356.1:p.Asp48%3D;CSQ_HGVSg=17:g.74733099G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=24806;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.803928;CSQ_gnomADe_AC=218946;CSQ_gnomADe_AN=244598;CSQ_gnomADe_AF=0.895126;CSQ_gnomADe_Hom=99316;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MFSD11:5UTR&SRSF2:D48D;CSQ_CADD_PHRED=14.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,91:123:0.73984:65:-100:0.1517:14,29,4,12,17,15,21,38,8,16,20,20:100:100 +17 78519519 . T C 100 PASS DP=180;CSQ_Allele=C;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.90T>C;CSQ_HGVSp=NP_001156506.1:p.Phe30%3D;CSQ_HGVSg=17:g.78519519T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2941;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0950734;CSQ_gnomADe_AC=22475;CSQ_gnomADe_AN=246038;CSQ_gnomADe_AF=0.0913477;CSQ_gnomADe_Hom=1329;CSQ_COSMICcMuts=COSV60802422&COSV60802422&COSV60802422&COSV60802422;CSQ_COSMICncMuts=COSV60802422;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:F30F;CSQ_CADD_PHRED=14.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,21:180:0.11667:65:-100:0.1045:3,5,1,5,1,6,21,54,15,41,15,34:100:100 +17 78519519 . T C 100 PASS DP=180;CSQ_Allele=C;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.90T>C;CSQ_HGVSp=NP_065812.1:p.Phe30%3D;CSQ_HGVSg=17:g.78519519T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2941;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0950734;CSQ_gnomADe_AC=22475;CSQ_gnomADe_AN=246038;CSQ_gnomADe_AF=0.0913477;CSQ_gnomADe_Hom=1329;CSQ_COSMICcMuts=COSV60802422&COSV60802422&COSV60802422&COSV60802422;CSQ_COSMICncMuts=COSV60802422;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:F30F;CSQ_CADD_PHRED=14.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:159,21:180:0.11667:65:-100:0.1045:3,5,1,5,1,6,21,54,15,41,15,34:100:100 +17 78599562 . C G 100 PASS DP=181;CSQ_Allele=G;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.234C>G;CSQ_HGVSp=NP_001156506.1:p.Thr78%3D;CSQ_HGVSg=17:g.78599562C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4975;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.160826;CSQ_gnomADe_AC=43718;CSQ_gnomADe_AN=246112;CSQ_gnomADe_AF=0.177635;CSQ_gnomADe_Hom=4521;CSQ_COSMICcMuts=COSV60802482&COSV60802482&COSV60802482&COSV60802482;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:T78T;CSQ_CADD_PHRED=10.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,27:181:0.14917:65:-100:0.0905:4,8,1,6,2,6,38,65,10,27,19,22:100:100 +17 78599562 . C G 100 PASS DP=181;CSQ_Allele=G;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.234C>G;CSQ_HGVSp=NP_065812.1:p.Thr78%3D;CSQ_HGVSg=17:g.78599562C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4975;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.160826;CSQ_gnomADe_AC=43718;CSQ_gnomADe_AN=246112;CSQ_gnomADe_AF=0.177635;CSQ_gnomADe_Hom=4521;CSQ_COSMICcMuts=COSV60802482&COSV60802482&COSV60802482&COSV60802482;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:T78T;CSQ_CADD_PHRED=10.26 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,27:181:0.14917:65:-100:0.0905:4,8,1,6,2,6,38,65,10,27,19,22:100:100 +17 78727888 . G A 100 PASS DP=190;CSQ_Allele=A;CSQ_SYMBOL=RPTOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.733G>A;CSQ_HGVSp=NP_001156506.1:p.Ala245Thr;CSQ_HGVSg=17:g.78727888G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60803994&COSV60803994&COSV60803994&COSV60803994;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.646;CSQ_Mastermind_MMID3=RPTOR:A245T;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,17:190:0.08947:65:-100:0.1204:4,8,3,1,0,1,26,57,23,40,18,26:100:100 +17 78727888 . G A 100 PASS DP=190;CSQ_Allele=A;CSQ_SYMBOL=RPTOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.733G>A;CSQ_HGVSp=NP_065812.1:p.Ala245Thr;CSQ_HGVSg=17:g.78727888G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60803994&COSV60803994&COSV60803994&COSV60803994;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=0.646;CSQ_Mastermind_MMID3=RPTOR:A245T;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:173,17:190:0.08947:65:-100:0.1204:4,8,3,1,0,1,26,57,23,40,18,26:100:100 +17 78820329 . C T 100 PASS DP=177;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.1269C>T;CSQ_HGVSp=NP_001156506.1:p.Gly423%3D;CSQ_HGVSg=17:g.78820329C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15679;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.507214;CSQ_gnomADe_AC=144161;CSQ_gnomADe_AN=246012;CSQ_gnomADe_AF=0.585992;CSQ_gnomADe_Hom=43800;CSQ_COSMICcMuts=COSV60802623&COSV60802623&COSV60802623;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:G423G;CSQ_CADD_PHRED=10.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,102:177:0.57627:65:-100:0.169:12,37,12,17,12,12,22,68,18,28,23,18:100:100 +17 78820329 . C T 100 PASS DP=177;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.1269C>T;CSQ_HGVSp=NP_065812.1:p.Gly423%3D;CSQ_HGVSg=17:g.78820329C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=15679;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.507214;CSQ_gnomADe_AC=144161;CSQ_gnomADe_AN=246012;CSQ_gnomADe_AF=0.585992;CSQ_gnomADe_Hom=43800;CSQ_COSMICcMuts=COSV60802623&COSV60802623&COSV60802623;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:G423G;CSQ_CADD_PHRED=10.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,102:177:0.57627:65:-100:0.169:12,37,12,17,12,12,22,68,18,28,23,18:100:100 +17 78820374 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=RPTOR;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.1314G>A;CSQ_HGVSp=NP_001156506.1:p.Gln438%3D;CSQ_HGVSg=17:g.78820374G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3013;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0973128;CSQ_gnomADe_AC=25078;CSQ_gnomADe_AN=245900;CSQ_gnomADe_AF=0.101985;CSQ_gnomADe_Hom=1510;CSQ_COSMICcMuts=COSV60802434&COSV60802434&COSV60802434;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:Q438Q&RPTOR:Q438srd;CSQ_CADD_PHRED=19.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,15:152:0.09868:65:-100:0.1694:3,6,1,2,2,1,24,56,11,19,15,27:100:100 +17 78820374 . G A 100 PASS DP=152;CSQ_Allele=A;CSQ_SYMBOL=RPTOR;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.1314G>A;CSQ_HGVSp=NP_065812.1:p.Gln438%3D;CSQ_HGVSg=17:g.78820374G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3013;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0973128;CSQ_gnomADe_AC=25078;CSQ_gnomADe_AN=245900;CSQ_gnomADe_AF=0.101985;CSQ_gnomADe_Hom=1510;CSQ_COSMICcMuts=COSV60802434&COSV60802434&COSV60802434;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:Q438Q&RPTOR:Q438srd;CSQ_CADD_PHRED=19.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,15:152:0.09868:65:-100:0.1694:3,6,1,2,2,1,24,56,11,19,15,27:100:100 +17 78854223 . A G 100 PASS DP=197;CSQ_Allele=G;CSQ_SYMBOL=RPTOR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.1510-11297A>G;CSQ_HGVSp=.;CSQ_HGVSg=17:g.78854223A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6763;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.218981;CSQ_gnomADe_AC=63417;CSQ_gnomADe_AN=246118;CSQ_gnomADe_AF=0.257669;CSQ_gnomADe_Hom=8576;CSQ_COSMICcMuts=COSV60803658&COSV60803658;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:Q506Q&RPTOR:S503int&RPTOR:S503inta;CSQ_CADD_PHRED=5.154 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,44:197:0.22335:65:-100:0.1205:13,13,4,9,3,2,45,50,26,38,14,24:100:100 +17 78854223 . A G 100 PASS DP=197;CSQ_Allele=G;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.1518A>G;CSQ_HGVSp=NP_065812.1:p.Gln506%3D;CSQ_HGVSg=17:g.78854223A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6763;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.218981;CSQ_gnomADe_AC=63417;CSQ_gnomADe_AN=246118;CSQ_gnomADe_AF=0.257669;CSQ_gnomADe_Hom=8576;CSQ_COSMICcMuts=COSV60803658&COSV60803658;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:Q506Q&RPTOR:S503int&RPTOR:S503inta;CSQ_CADD_PHRED=5.154 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,44:197:0.22335:65:-100:0.1205:13,13,4,9,3,2,45,50,26,38,14,24:100:100 +17 78858816 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/29;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.1510-6704C>T;CSQ_HGVSp=.;CSQ_HGVSg=17:g.78858816C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=777272;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=554;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0179149;CSQ_gnomADe_AC=1067;CSQ_gnomADe_AN=234824;CSQ_gnomADe_AF=0.00454383;CSQ_gnomADe_Hom=25;CSQ_COSMICcMuts=COSV60805221&COSV60805221;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:S503int&RPTOR:S503inta;CSQ_CADD_PHRED=1.026 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,17:151:0.11258:65:-100:0.1371:1,4,1,4,2,5,21,48,10,29,13,30:100:100 +17 78858816 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.1851C>T;CSQ_HGVSp=NP_065812.1:p.Cys617%3D;CSQ_HGVSg=17:g.78858816C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=777272;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=554;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.0179149;CSQ_gnomADe_AC=1067;CSQ_gnomADe_AN=234824;CSQ_gnomADe_AF=0.00454383;CSQ_gnomADe_Hom=25;CSQ_COSMICcMuts=COSV60805221&COSV60805221;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.026 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,17:151:0.11258:65:-100:0.1371:1,4,1,4,2,5,21,48,10,29,13,30:100:100 +17 78865546 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.1536T>C;CSQ_HGVSp=NP_001156506.1:p.Leu512%3D;CSQ_HGVSg=17:g.78865546T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11160;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.361025;CSQ_gnomADe_AC=67010;CSQ_gnomADe_AN=246118;CSQ_gnomADe_AF=0.272268;CSQ_gnomADe_Hom=10749;CSQ_COSMICcMuts=COSV60807799&COSV60807799;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:L512L&RPTOR:L670L;CSQ_CADD_PHRED=0.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,23:160:0.14375:65:-100:0.1444:6,7,3,4,1,2,24,42,19,35,16,24:100:100 +17 78865546 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.2010T>C;CSQ_HGVSp=NP_065812.1:p.Leu670%3D;CSQ_HGVSg=17:g.78865546T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11160;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.361025;CSQ_gnomADe_AC=67010;CSQ_gnomADe_AN=246118;CSQ_gnomADe_AF=0.272268;CSQ_gnomADe_Hom=10749;CSQ_COSMICcMuts=COSV60807799&COSV60807799;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:L512L&RPTOR:L670L;CSQ_CADD_PHRED=0.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,23:160:0.14375:65:-100:0.1444:6,7,3,4,1,2,24,42,19,35,16,24:100:100 +17 78865630 . A G 100 PASS DP=147;CSQ_Allele=G;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.1620A>G;CSQ_HGVSp=NP_001156506.1:p.Ala540%3D;CSQ_HGVSg=17:g.78865630A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5625;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.182157;CSQ_gnomADe_AC=40408;CSQ_gnomADe_AN=245772;CSQ_gnomADe_AF=0.164413;CSQ_gnomADe_Hom=3953;CSQ_COSMICcMuts=COSV60805270&COSV60805270;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:A540A&RPTOR:A698A;CSQ_CADD_PHRED=1.132 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,11:147:0.07483:65:-100:0.1552:3,4,0,1,0,3,22,47,14,28,12,24:100:100 +17 78865630 . A G 100 PASS DP=147;CSQ_Allele=G;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.2094A>G;CSQ_HGVSp=NP_065812.1:p.Ala698%3D;CSQ_HGVSg=17:g.78865630A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5625;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.182157;CSQ_gnomADe_AC=40408;CSQ_gnomADe_AN=245772;CSQ_gnomADe_AF=0.164413;CSQ_gnomADe_Hom=3953;CSQ_COSMICcMuts=COSV60805270&COSV60805270;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:A540A&RPTOR:A698A;CSQ_CADD_PHRED=1.132 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,11:147:0.07483:65:-100:0.1552:3,4,0,1,0,3,22,47,14,28,12,24:100:100 +17 78896529 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.2052C>T;CSQ_HGVSp=NP_001156506.1:p.Thr684%3D;CSQ_HGVSg=17:g.78896529C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8512;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.276005;CSQ_gnomADe_AC=57282;CSQ_gnomADe_AN=198984;CSQ_gnomADe_AF=0.287872;CSQ_gnomADe_Hom=8555;CSQ_COSMICcMuts=COSV60802444&COSV60802444;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:T684T&RPTOR:T842T;CSQ_CADD_PHRED=0.762 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,46:130:0.35385:65:-100:0.2025:6,15,6,6,7,6,24,45,20,11,15,15:100:100 +17 78896529 . C T 100 PASS DP=130;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.2526C>T;CSQ_HGVSp=NP_065812.1:p.Thr842%3D;CSQ_HGVSg=17:g.78896529C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8512;CSQ_gnomADg_AN=30840;CSQ_gnomADg_AF=0.276005;CSQ_gnomADe_AC=57282;CSQ_gnomADe_AN=198984;CSQ_gnomADe_AF=0.287872;CSQ_gnomADe_Hom=8555;CSQ_COSMICcMuts=COSV60802444&COSV60802444;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:T684T&RPTOR:T842T;CSQ_CADD_PHRED=0.762 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,46:130:0.35385:65:-100:0.2025:6,15,6,6,7,6,24,45,20,11,15,15:100:100 +17 78914301 . A G 100 PASS DP=195;CSQ_Allele=G;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.2451A>G;CSQ_HGVSp=NP_001156506.1:p.Pro817%3D;CSQ_HGVSg=17:g.78914301A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=735918;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=25;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.000807024;CSQ_gnomADe_AC=50;CSQ_gnomADe_AN=244288;CSQ_gnomADe_AF=0.000204676;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:184,11:195:0.05641:65:-100:0.1522:1,3,1,1,2,3,29,70,11,27,16,42:100:100 +17 78914301 . A G 100 PASS DP=195;CSQ_Allele=G;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.2925A>G;CSQ_HGVSp=NP_065812.1:p.Pro975%3D;CSQ_HGVSg=17:g.78914301A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=735918;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=25;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.000807024;CSQ_gnomADe_AC=50;CSQ_gnomADe_AN=244288;CSQ_gnomADe_AF=0.000204676;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.011 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:184,11:195:0.05641:65:-100:0.1522:1,3,1,1,2,3,29,70,11,27,16,42:100:100 +17 78919558 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.2643C>T;CSQ_HGVSp=NP_001156506.1:p.Ala881%3D;CSQ_HGVSg=17:g.78919558C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11029;CSQ_gnomADg_AN=30748;CSQ_gnomADg_AF=0.35869;CSQ_gnomADe_AC=84645;CSQ_gnomADe_AN=240826;CSQ_gnomADe_AF=0.351478;CSQ_gnomADe_Hom=15112;CSQ_COSMICcMuts=COSV60809154&COSV60809154;CSQ_COSMICncMuts=COSV60809154&COSV60809154;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:A1039A&RPTOR:A881A;CSQ_CADD_PHRED=9.023 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,67:181:0.37017:65:-100:0.1659:6,26,4,11,7,13,28,59,22,35,14,23:100:100 +17 78919558 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=26/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.3117C>T;CSQ_HGVSp=NP_065812.1:p.Ala1039%3D;CSQ_HGVSg=17:g.78919558C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11029;CSQ_gnomADg_AN=30748;CSQ_gnomADg_AF=0.35869;CSQ_gnomADe_AC=84645;CSQ_gnomADe_AN=240826;CSQ_gnomADe_AF=0.351478;CSQ_gnomADe_Hom=15112;CSQ_COSMICcMuts=COSV60809154&COSV60809154;CSQ_COSMICncMuts=COSV60809154&COSV60809154;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:A1039A&RPTOR:A881A;CSQ_CADD_PHRED=9.023 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,67:181:0.37017:65:-100:0.1659:6,26,4,11,7,13,28,59,22,35,14,23:100:100 +17 78921117 . C T 100 PASS DP=200;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.2757C>T;CSQ_HGVSp=NP_001156506.1:p.Asn919%3D;CSQ_HGVSg=17:g.78921117C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7342;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.237451;CSQ_gnomADe_AC=61559;CSQ_gnomADe_AN=228072;CSQ_gnomADe_AF=0.26991;CSQ_gnomADe_Hom=8858;CSQ_COSMICcMuts=COSV60802469&COSV60802469;CSQ_COSMICncMuts=COSV60802469;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:N1077N&RPTOR:N919N;CSQ_CADD_PHRED=0.844 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:166,34:200:0.17:65:-100:0.1489:6,10,5,8,1,4,31,67,17,38,11,36:100:100 +17 78921117 . C T 100 PASS DP=200;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=27/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.3231C>T;CSQ_HGVSp=NP_065812.1:p.Asn1077%3D;CSQ_HGVSg=17:g.78921117C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7342;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.237451;CSQ_gnomADe_AC=61559;CSQ_gnomADe_AN=228072;CSQ_gnomADe_AF=0.26991;CSQ_gnomADe_Hom=8858;CSQ_COSMICcMuts=COSV60802469&COSV60802469;CSQ_COSMICncMuts=COSV60802469;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:N1077N&RPTOR:N919N;CSQ_CADD_PHRED=0.844 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:166,34:200:0.17:65:-100:0.1489:6,10,5,8,1,4,31,67,17,38,11,36:100:100 +17 78935197 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=27/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.3135C>T;CSQ_HGVSp=NP_001156506.1:p.Arg1045%3D;CSQ_HGVSg=17:g.78935197C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9254;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.299832;CSQ_gnomADe_AC=52960;CSQ_gnomADe_AN=148506;CSQ_gnomADe_AF=0.356619;CSQ_gnomADe_Hom=10019;CSQ_COSMICcMuts=COSV60810915&COSV60810915;CSQ_COSMICncMuts=COSV60810915;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:R1045R&RPTOR:R1203R;CSQ_CADD_PHRED=8.318 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,69:142:0.48592:65:-100:0.2022:9,28,3,8,10,11,23,50,10,20,16,23:100:100 +17 78935197 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.3609C>T;CSQ_HGVSp=NP_065812.1:p.Arg1203%3D;CSQ_HGVSg=17:g.78935197C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9254;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.299832;CSQ_gnomADe_AC=52960;CSQ_gnomADe_AN=148506;CSQ_gnomADe_AF=0.356619;CSQ_gnomADe_Hom=10019;CSQ_COSMICcMuts=COSV60810915&COSV60810915;CSQ_COSMICncMuts=COSV60810915;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RPTOR:R1045R&RPTOR:R1203R;CSQ_CADD_PHRED=8.318 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,69:142:0.48592:65:-100:0.2022:9,28,3,8,10,11,23,50,10,20,16,23:100:100 +17 78936749 . C T 100 PASS DP=193;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=29/30;CSQ_INTRON=.;CSQ_Feature=NM_001163034.2;CSQ_HGVSc=NM_001163034.2:c.3357C>T;CSQ_HGVSp=NP_001156506.1:p.Thr1119%3D;CSQ_HGVSg=17:g.78936749C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245994;CSQ_gnomADe_AF=8.13028e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.363 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:184,9:193:0.04663:65:-93.1859:0.146:1,3,1,1,1,2,37,51,21,30,25,29:85.557:100 +17 78936749 . C T 100 PASS DP=193;CSQ_Allele=T;CSQ_SYMBOL=RPTOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=33/34;CSQ_INTRON=.;CSQ_Feature=NM_020761.3;CSQ_HGVSc=NM_020761.3:c.3831C>T;CSQ_HGVSp=NP_065812.1:p.Thr1277%3D;CSQ_HGVSg=17:g.78936749C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245994;CSQ_gnomADe_AF=8.13028e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=15;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.363 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:184,9:193:0.04663:65:-93.1859:0.146:1,3,1,1,1,2,37,51,21,30,25,29:85.557:100 +18 724612 . A G 100 PASS DP=105;CSQ_Allele=G;CSQ_SYMBOL=YES1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_005433.4;CSQ_HGVSc=NM_005433.4:c.1444T>C;CSQ_HGVSp=NP_005424.1:p.Leu482%3D;CSQ_HGVSg=18:g.724612A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30741;CSQ_gnomADg_AN=30976;CSQ_gnomADg_AF=0.992413;CSQ_gnomADe_AC=245715;CSQ_gnomADe_AN=246256;CSQ_gnomADe_AF=0.997803;CSQ_gnomADe_Hom=122594;CSQ_COSMICcMuts=COSV58847929&COSV58847929&COSV58847929;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=YES1:L482L;CSQ_CADD_PHRED=9.451 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,105:105:1:65:-100:0.1532:11,36,6,24,6,22,11,36,6,24,6,22:100:100 +18 19751148 . G C 100 PASS DP=82;CSQ_Allele=C;CSQ_SYMBOL=GATA6;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/7;CSQ_INTRON=.;CSQ_Feature=NM_005257.6;CSQ_HGVSc=NM_005257.6:c.43G>C;CSQ_HGVSp=NP_005248.2:p.Gly15Arg;CSQ_HGVSg=18:g.19751148G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=129134;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Atrioventricular_septal_defect_5&Monogenic_diabetes¬_specified¬_provided;CSQ_gnomADg_AC=692;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.0224442;CSQ_gnomADe_AC=3126;CSQ_gnomADe_AN=226158;CSQ_gnomADe_AF=0.0138222;CSQ_gnomADe_Hom=72;CSQ_COSMICcMuts=COSV52525361&COSV52525361;CSQ_COSMICncMuts=COSV52525361&COSV52525361&COSV52525361&COSV52525361&COSV52525361;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.502;CSQ_Mastermind_MMID3=GATA6:G15R;CSQ_CADD_PHRED=26.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:72,10:82:0.12195:65:-100:0.2613:3,2,0,0,1,4,21,23,10,6,13,9:100:100 +18 39567804 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=PIK3C3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/25;CSQ_INTRON=.;CSQ_Feature=NM_002647.4;CSQ_HGVSc=NM_002647.4:c.560T>C;CSQ_HGVSp=NP_002638.2:p.Met187Thr;CSQ_HGVSg=18:g.39567804T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56277295&COSV56277295;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=0.647;CSQ_Mastermind_MMID3=PIK3C3:M187T;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,6:125:0.048:65:-96.8868:0.1497:1,2,1,0,1,1,22,47,9,15,14,18:77.528:100 +18 42456653 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=SETBP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_001130110.2;CSQ_HGVSc=NM_001130110.2:c.664G>A;CSQ_HGVSp=NP_001123582.1:p.Ala222Thr;CSQ_HGVSg=18:g.42456653G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159884;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=16782;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.543635;CSQ_gnomADe_AC=78420;CSQ_gnomADe_AN=150564;CSQ_gnomADe_AF=0.520842;CSQ_gnomADe_Hom=20709;CSQ_COSMICcMuts=COSV56312857&COSV56312857;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.010;CSQ_Mastermind_MMID3=SETBP1:A222T&SETBP1:Q180int&SETBP1:Q180intd;CSQ_CADD_PHRED=2.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,117:163:0.71779:65:-100:0.1237:13,38,8,19,17,22,20,55,10,26,22,30:100:100 +18 42456653 . G A 100 PASS DP=163;CSQ_Allele=A;CSQ_SYMBOL=SETBP1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/5;CSQ_Feature=NM_015559.3;CSQ_HGVSc=NM_015559.3:c.540+7405G>A;CSQ_HGVSp=.;CSQ_HGVSg=18:g.42456653G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159884;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=16782;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.543635;CSQ_gnomADe_AC=78420;CSQ_gnomADe_AN=150564;CSQ_gnomADe_AF=0.520842;CSQ_gnomADe_Hom=20709;CSQ_COSMICcMuts=COSV56312857&COSV56312857;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SETBP1:A222T&SETBP1:Q180int&SETBP1:Q180intd;CSQ_CADD_PHRED=2.994 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,117:163:0.71779:65:-100:0.1237:13,38,8,19,17,22,20,55,10,26,22,30:100:100 +18 42529996 . G C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=SETBP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_015559.3;CSQ_HGVSc=NM_015559.3:c.691G>C;CSQ_HGVSp=NP_056374.2:p.Val231Leu;CSQ_HGVSg=18:g.42529996G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159885;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=5640;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.182218;CSQ_gnomADe_AC=47181;CSQ_gnomADe_AN=245688;CSQ_gnomADe_AF=0.192036;CSQ_gnomADe_Hom=4956;CSQ_COSMICcMuts=COSV56313278;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=0.036;CSQ_Mastermind_MMID3=SETBP1:V231L;CSQ_CADD_PHRED=0.260 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,53:146:0.36301:65:-100:0.0988:5,17,5,11,5,10,21,53,9,25,12,26:100:100 +18 42530274 . G A 100 PASS DP=104;CSQ_Allele=A;CSQ_SYMBOL=SETBP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_015559.3;CSQ_HGVSc=NM_015559.3:c.969G>A;CSQ_HGVSp=NP_056374.2:p.Lys323%3D;CSQ_HGVSg=18:g.42530274G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=326732;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.000193723;CSQ_gnomADe_AC=33;CSQ_gnomADe_AN=243450;CSQ_gnomADe_AF=0.000135551;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.68 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,16:104:0.15385:65:-100:0.1261:2,7,0,1,0,6,13,42,6,16,6,21:100:100 +18 42532606 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=SETBP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_015559.3;CSQ_HGVSc=NM_015559.3:c.3301G>A;CSQ_HGVSp=NP_056374.2:p.Val1101Ile;CSQ_HGVSg=18:g.42532606G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159872;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=3385;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.109419;CSQ_gnomADe_AC=30054;CSQ_gnomADe_AN=245306;CSQ_gnomADe_AF=0.122516;CSQ_gnomADe_Hom=2197;CSQ_COSMICcMuts=COSV56312865;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.033;CSQ_Mastermind_MMID3=SETBP1:V1101I;CSQ_CADD_PHRED=9.792 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,28:150:0.18667:65:-100:0.162:5,11,1,5,1,5,24,55,10,25,8,28:100:100 +18 42533130 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=SETBP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_015559.3;CSQ_HGVSc=NM_015559.3:c.3825A>G;CSQ_HGVSp=NP_056374.2:p.Ser1275%3D;CSQ_HGVSg=18:g.42533130A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=159875;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Schinzel-Giedion_syndrome&Intellectual_disability&_autosomal_dominant_29¬_specified¬_provided;CSQ_gnomADg_AC=28011;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.906212;CSQ_gnomADe_AC=215780;CSQ_gnomADe_AN=244870;CSQ_gnomADe_AF=0.881202;CSQ_gnomADe_Hom=95494;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SETBP1:S1275S;CSQ_CADD_PHRED=0.712 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:10,127:137:0.92701:65:-100:0.1796:23,41,14,16,11,22,24,45,16,16,12,24:100:100 +18 42643200 . CA C 100 PASS DP=148;CSQ_Allele=-;CSQ_SYMBOL=SETBP1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_015559.3;CSQ_HGVSc=NM_015559.3:c.4333del;CSQ_HGVSp=NP_056374.2:p.Thr1445GlnfsTer6;CSQ_HGVSg=18:g.42643205del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56314146;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,11:148:0.07432:65:-100:0:3,4,1,0,0,3,31,45,13,28,6,25:100:100 +18 42643299 . A G 100 PASS DP=105;CSQ_Allele=G;CSQ_SYMBOL=SETBP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_015559.3;CSQ_HGVSc=NM_015559.3:c.4427A>G;CSQ_HGVSp=NP_056374.2:p.Glu1476Gly;CSQ_HGVSg=18:g.42643299A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56314154;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-8;CSQ_REVEL=0.242;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=23.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,12:105:0.11429:65:-100:0.125:3,6,1,1,0,1,20,38,6,24,8,9:100:100 +18 42643573 . GC G 100 PASS DP=87;CSQ_Allele=-;CSQ_SYMBOL=SETBP1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_015559.3;CSQ_HGVSc=NM_015559.3:c.4706del;CSQ_HGVSp=NP_056374.2:p.Pro1569ArgfsTer11;CSQ_HGVSg=18:g.42643578del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV105863883;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,9:87:0.10345:65:-100:0:1,2,2,1,0,3,16,23,9,16,11,12:100:100 +18 57568601 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=PMAIP1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/1;CSQ_Feature=NM_021127.3;CSQ_HGVSc=NM_021127.3:c.58+1134C>T;CSQ_HGVSp=.;CSQ_HGVSg=18:g.57568601C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14271;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.461665;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.326 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,43:119:0.36134:65:-100:0.1959:6,16,2,7,6,6,17,45,9,16,11,21:100:100 +18 57571709 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=PMAIP1;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_021127.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=18:g.57571709T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.747 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,13:125:0.104:65:-100:0.1135:4,3,1,2,0,3,21,31,6,23,14,30:100:100 +18 60985879 . T C 100 PASS DP=124;CSQ_Allele=C;CSQ_SYMBOL=BCL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_000633.3;CSQ_HGVSc=NM_000633.3:c.21A>G;CSQ_HGVSp=NP_000624.2:p.Thr7%3D;CSQ_HGVSg=18:g.60985879T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10007;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.323998;CSQ_gnomADe_AC=91027;CSQ_gnomADe_AN=243996;CSQ_gnomADe_AF=0.373068;CSQ_gnomADe_Hom=18752;CSQ_COSMICcMuts=COSV61374121&COSV61374121&COSV61374121&COSV61374121;CSQ_COSMICncMuts=COSV61374121;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2:T7T;CSQ_CADD_PHRED=13.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,30:124:0.24194:65:-100:0.1079:6,13,2,5,2,2,19,50,9,21,9,16:100:100 +18 60985894 . C T 100 PASS DP=128;CSQ_Allele=T;CSQ_SYMBOL=BCL2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_000633.3;CSQ_HGVSc=NM_000633.3:c.6G>A;CSQ_HGVSp=NP_000624.2:p.Ala2%3D;CSQ_HGVSg=18:g.60985894C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61373962&COSV61373962&COSV61373962&COSV61373962;CSQ_COSMICncMuts=COSV61373962;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCL2:A2A;CSQ_CADD_PHRED=13.94 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,17:128:0.13281:65:-100:0.1523:6,6,0,1,0,4,27,43,10,19,10,19:100:100 +19 1218494 . G A 100 PASS DP=192;CSQ_Allele=A;CSQ_SYMBOL=STK11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/10;CSQ_INTRON=.;CSQ_Feature=NM_000455.5;CSQ_HGVSc=NM_000455.5:c.369G>A;CSQ_HGVSp=NP_000446.1:p.Gln123%3D;CSQ_HGVSg=19:g.1218494G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=141198;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Peutz-Jeghers_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=197;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.00636305;CSQ_gnomADe_AC=366;CSQ_gnomADe_AN=246096;CSQ_gnomADe_AF=0.00148722;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV104641676;CSQ_COSMICncMuts=COSV104641676&COSV104641676&COSV104641676;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=STK11:Q123Q;CSQ_CADD_PHRED=11.27 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:179,13:192:0.06771:65:-100:0.1616:1,5,1,3,1,2,29,69,15,34,17,28:100:100 +19 1221293 . C T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=STK11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_000455.5;CSQ_HGVSc=NM_000455.5:c.816C>T;CSQ_HGVSp=NP_000446.1:p.Tyr272%3D;CSQ_HGVSg=19:g.1221293C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=141192;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Malignant_tumor_of_breast&Peutz-Jeghers_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=787;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.025461;CSQ_gnomADe_AC=1417;CSQ_gnomADe_AN=242428;CSQ_gnomADe_AF=0.00584503;CSQ_gnomADe_Hom=51;CSQ_COSMICcMuts=COSV58823633;CSQ_COSMICncMuts=COSV58823633&COSV58823633&COSV58823633;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=STK11:Y272Y;CSQ_CADD_PHRED=9.800 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,17:170:0.1:65:-100:0.1327:2,6,3,2,1,3,31,65,17,33,7,17:100:100 +19 1223125 . C G 100 PASS DP=170;CSQ_Allele=G;CSQ_SYMBOL=STK11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/10;CSQ_INTRON=.;CSQ_Feature=NM_000455.5;CSQ_HGVSc=NM_000455.5:c.1062C>G;CSQ_HGVSp=NP_000446.1:p.Phe354Leu;CSQ_HGVSg=19:g.1223125C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=7461;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Carcinoma_of_pancreas&Malignant_tumor_of_breast&Melanoma&_cutaneous_malignant&_susceptibility_to&_1&Peutz-Jeghers_syndrome&Germ_cell_tumor_of_testis&Hereditary_cancer-predisposing_syndrome¬_specified&Breast_and/or_ovarian_cancer¬_provided;CSQ_gnomADg_AC=113;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.00365601;CSQ_gnomADe_AC=1250;CSQ_gnomADe_AN=242790;CSQ_gnomADe_AF=0.00514848;CSQ_gnomADe_Hom=14;CSQ_COSMICcMuts=COSV58819912;CSQ_COSMICncMuts=COSV58819912&COSV58819912&COSV58819912&COSV58819912&COSV58819912;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=0.156;CSQ_Mastermind_MMID3=STK11:F354L;CSQ_CADD_PHRED=0.193 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:156,14:170:0.08235:65:-100:0.1371:1,3,3,6,0,1,25,60,9,35,15,26:100:100 +19 1615796 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=TCF3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/20;CSQ_INTRON=.;CSQ_Feature=NM_001136139.4;CSQ_HGVSc=NM_001136139.4:c.1475C>T;CSQ_HGVSp=NP_001129611.1:p.Ala492Val;CSQ_HGVSg=19:g.1615796G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1165836;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Likely_pathogenic(1)&Benign(1);CSQ_ClinVar_CLNDN=Myeloproliferative_neoplasm&_unclassifiable¬_provided;CSQ_gnomADg_AC=1087;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.0352053;CSQ_gnomADe_AC=12622;CSQ_gnomADe_AN=216796;CSQ_gnomADe_AF=0.0582206;CSQ_gnomADe_Hom=1645;CSQ_COSMICcMuts=COSV53645247&COSV53645247&COSV53645247&COSV53645247&COSV53645247;CSQ_COSMICncMuts=COSV53645247&COSV53645247&COSV53645247;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=0.173;CSQ_Mastermind_MMID3=TCF3:A491V&TCF3:A492V;CSQ_CADD_PHRED=12.67 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,22:130:0.16923:65:-100:0.1503:3,14,1,1,1,2,26,41,11,25,11,16:100:100 +19 1615796 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=TCF3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/19;CSQ_INTRON=.;CSQ_Feature=NM_003200.5;CSQ_HGVSc=NM_003200.5:c.1475C>T;CSQ_HGVSp=NP_003191.1:p.Ala492Val;CSQ_HGVSg=19:g.1615796G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1165836;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Likely_pathogenic(1)&Benign(1);CSQ_ClinVar_CLNDN=Myeloproliferative_neoplasm&_unclassifiable¬_provided;CSQ_gnomADg_AC=1087;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.0352053;CSQ_gnomADe_AC=12622;CSQ_gnomADe_AN=216796;CSQ_gnomADe_AF=0.0582206;CSQ_gnomADe_Hom=1645;CSQ_COSMICcMuts=COSV53645247&COSV53645247&COSV53645247&COSV53645247&COSV53645247;CSQ_COSMICncMuts=COSV53645247&COSV53645247&COSV53645247;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=0.173;CSQ_Mastermind_MMID3=TCF3:A491V&TCF3:A492V;CSQ_CADD_PHRED=12.67 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,22:130:0.16923:65:-100:0.1503:3,14,1,1,1,2,26,41,11,25,11,16:100:100 +19 1619333 . G A 100 PASS DP=63;CSQ_Allele=A;CSQ_SYMBOL=TCF3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/20;CSQ_INTRON=.;CSQ_Feature=NM_001136139.4;CSQ_HGVSc=NM_001136139.4:c.1308C>T;CSQ_HGVSp=NP_001129611.1:p.Gly436%3D;CSQ_HGVSg=19:g.1619333G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169440;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9225;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.299319;CSQ_gnomADe_AC=56454;CSQ_gnomADe_AN=204688;CSQ_gnomADe_AF=0.275805;CSQ_gnomADe_Hom=8052;CSQ_COSMICcMuts=COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352;CSQ_COSMICncMuts=COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.58;CSQ_SpliceAI_pred_DS_DL=0.08;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TCF3:G435G&TCF3:G436G;CSQ_CADD_PHRED=9.288 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,19:63:0.30159:65:-100:0.1127:7,4,2,1,3,2,20,16,9,4,8,6:100:100 +19 1619333 . G A 100 PASS DP=63;CSQ_Allele=A;CSQ_SYMBOL=TCF3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/19;CSQ_INTRON=.;CSQ_Feature=NM_003200.5;CSQ_HGVSc=NM_003200.5:c.1308C>T;CSQ_HGVSp=NP_003191.1:p.Gly436%3D;CSQ_HGVSg=19:g.1619333G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169440;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=9225;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.299319;CSQ_gnomADe_AC=56454;CSQ_gnomADe_AN=204688;CSQ_gnomADe_AF=0.275805;CSQ_gnomADe_Hom=8052;CSQ_COSMICcMuts=COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352;CSQ_COSMICncMuts=COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352&COSV53645352;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.58;CSQ_SpliceAI_pred_DS_DL=0.08;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TCF3:G435G&TCF3:G436G;CSQ_CADD_PHRED=9.288 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,19:63:0.30159:65:-100:0.1127:7,4,2,1,3,2,20,16,9,4,8,6:100:100 +19 1619339 . T C 100 PASS DP=68;CSQ_Allele=C;CSQ_SYMBOL=TCF3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/20;CSQ_INTRON=.;CSQ_Feature=NM_001136139.4;CSQ_HGVSc=NM_001136139.4:c.1302A>G;CSQ_HGVSp=NP_001129611.1:p.Ser434%3D;CSQ_HGVSg=19:g.1619339T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1167431;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16487;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.534737;CSQ_gnomADe_AC=98340;CSQ_gnomADe_AN=207014;CSQ_gnomADe_AF=0.47504;CSQ_gnomADe_Hom=25412;CSQ_COSMICcMuts=COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484;CSQ_COSMICncMuts=COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TCF3:S433S&TCF3:S434S;CSQ_CADD_PHRED=0.738 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,31:68:0.45588:65:-100:0.1053:12,5,3,1,5,5,23,15,10,3,7,10:100:100 +19 1619339 . T C 100 PASS DP=68;CSQ_Allele=C;CSQ_SYMBOL=TCF3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/19;CSQ_INTRON=.;CSQ_Feature=NM_003200.5;CSQ_HGVSc=NM_003200.5:c.1302A>G;CSQ_HGVSp=NP_003191.1:p.Ser434%3D;CSQ_HGVSg=19:g.1619339T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1167431;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16487;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.534737;CSQ_gnomADe_AC=98340;CSQ_gnomADe_AN=207014;CSQ_gnomADe_AF=0.47504;CSQ_gnomADe_Hom=25412;CSQ_COSMICcMuts=COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484;CSQ_COSMICncMuts=COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484&COSV53648484;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TCF3:S433S&TCF3:S434S;CSQ_CADD_PHRED=0.738 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,31:68:0.45588:65:-100:0.1053:12,5,3,1,5,5,23,15,10,3,7,10:100:100 +19 1622116 . G A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=TCF3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/20;CSQ_INTRON=.;CSQ_Feature=NM_001136139.4;CSQ_HGVSc=NM_001136139.4:c.759C>T;CSQ_HGVSp=NP_001129611.1:p.Ser253%3D;CSQ_HGVSg=19:g.1622116G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1167432;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7435;CSQ_gnomADg_AN=30770;CSQ_gnomADg_AF=0.241631;CSQ_gnomADe_AC=46277;CSQ_gnomADe_AN=210106;CSQ_gnomADe_AF=0.220255;CSQ_gnomADe_Hom=6903;CSQ_COSMICcMuts=COSV53646110&COSV53646110&COSV53646110&COSV53646110&COSV53646110;CSQ_COSMICncMuts=COSV53646110&COSV53646110&COSV53646110&COSV53646110&COSV53646110&COSV53646110&COSV53646110;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.897 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,33:106:0.31132:65:-100:0.1452:6,9,3,7,3,5,18,34,12,19,9,14:100:100 +19 1622116 . G A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=TCF3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/19;CSQ_INTRON=.;CSQ_Feature=NM_003200.5;CSQ_HGVSc=NM_003200.5:c.759C>T;CSQ_HGVSp=NP_003191.1:p.Ser253%3D;CSQ_HGVSg=19:g.1622116G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1167432;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=7435;CSQ_gnomADg_AN=30770;CSQ_gnomADg_AF=0.241631;CSQ_gnomADe_AC=46277;CSQ_gnomADe_AN=210106;CSQ_gnomADe_AF=0.220255;CSQ_gnomADe_Hom=6903;CSQ_COSMICcMuts=COSV53646110&COSV53646110&COSV53646110&COSV53646110&COSV53646110;CSQ_COSMICncMuts=COSV53646110&COSV53646110&COSV53646110&COSV53646110&COSV53646110&COSV53646110&COSV53646110;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.06;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.897 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:73,33:106:0.31132:65:-100:0.1452:6,9,3,7,3,5,18,34,12,19,9,14:100:100 +19 2185868 . AAA TAT 100 PASS DP=185;CSQ_Allele=TAT;CSQ_SYMBOL=DOT1L;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/28;CSQ_INTRON=.;CSQ_Feature=NM_032482.3;CSQ_HGVSc=NM_032482.3:c.140_142delinsTAT;CSQ_HGVSp=NP_115871.1:p.Glu47_Ile48delinsValPhe;CSQ_HGVSg=19:g.2185868_2185870delinsTAT;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,14:185:0.07568:65:-100:0:0,4,0,1,4,5,72,110,28,66,30,62:100:100 +19 2217023 . C T 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=DOT1L;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/28;CSQ_INTRON=.;CSQ_Feature=NM_032482.3;CSQ_HGVSc=NM_032482.3:c.2478C>T;CSQ_HGVSp=NP_115871.1:p.Ser826%3D;CSQ_HGVSg=19:g.2217023C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=653;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0211095;CSQ_gnomADe_AC=6029;CSQ_gnomADe_AN=245234;CSQ_gnomADe_AF=0.0245847;CSQ_gnomADe_Hom=102;CSQ_COSMICcMuts=COSV67112286;CSQ_COSMICncMuts=COSV67112286&COSV67112286&COSV67112286&COSV67112286&COSV67112286;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.616 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,10:139:0.07194:65:-100:0.142:3,1,0,3,0,3,17,38,10,28,18,28:79.875:100 +19 2222416 . G T 100 PASS DP=99;CSQ_Allele=T;CSQ_SYMBOL=DOT1L;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/28;CSQ_INTRON=.;CSQ_Feature=NM_032482.3;CSQ_HGVSc=NM_032482.3:c.3248G>T;CSQ_HGVSp=NP_115871.1:p.Ser1083Ile;CSQ_HGVSg=19:g.2222416G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=0.116;CSQ_Mastermind_MMID3=DOT1L:S1083I;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,8:99:0.08081:65:-49.6852:0.1681:3,2,0,2,0,1,20,25,10,18,13,13:87.324:100 +19 2223348 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=DOT1L;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/28;CSQ_INTRON=.;CSQ_Feature=NM_032482.3;CSQ_HGVSc=NM_032482.3:c.3459C>T;CSQ_HGVSp=NP_115871.1:p.Ser1153%3D;CSQ_HGVSg=19:g.2223348C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.000291338;CSQ_gnomADe_AC=100;CSQ_gnomADe_AN=244014;CSQ_gnomADe_AF=0.000409813;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DOT1L:S1153S;CSQ_CADD_PHRED=8.985 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,7:129:0.05426:65:-97.8929:0.1835:4,1,0,0,1,1,22,40,9,19,12,27:76.784:100 +19 2226676 . G A 100 PASS DP=118;CSQ_Allele=A;CSQ_SYMBOL=DOT1L;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=27/28;CSQ_INTRON=.;CSQ_Feature=NM_032482.3;CSQ_HGVSc=NM_032482.3:c.4156G>A;CSQ_HGVSp=NP_115871.1:p.Gly1386Ser;CSQ_HGVSg=19:g.2226676G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9732;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.315298;CSQ_gnomADe_AC=65371;CSQ_gnomADe_AN=186588;CSQ_gnomADe_AF=0.350349;CSQ_gnomADe_Hom=12515;CSQ_COSMICcMuts=COSV67107860;CSQ_COSMICncMuts=COSV67107860&COSV67107860&COSV67107860;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.064;CSQ_Mastermind_MMID3=DOT1L:G1386S;CSQ_CADD_PHRED=4.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,83:118:0.70339:65:-100:0.1194:14,18,12,18,9,12,25,24,18,21,13,17:100:100 +19 2226943 . G A 100 PASS DP=84;CSQ_Allele=A;CSQ_SYMBOL=DOT1L;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=27/28;CSQ_INTRON=.;CSQ_Feature=NM_032482.3;CSQ_HGVSc=NM_032482.3:c.4423G>A;CSQ_HGVSp=NP_115871.1:p.Ala1475Thr;CSQ_HGVSg=19:g.2226943G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=3.24002e-05;CSQ_gnomADe_AC=107;CSQ_gnomADe_AN=209708;CSQ_gnomADe_AF=0.000510233;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.25;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=0.028;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.522 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,6:84:0.07143:65:-50.6864:0.125:1,1,0,0,2,2,24,17,17,4,14,8:65.512:100 +19 3118942 . A T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=GNA11;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_002067.5;CSQ_HGVSc=NM_002067.5:c.626A>T;CSQ_HGVSp=NP_002058.2:p.Gln209Leu;CSQ_HGVSg=19:g.3118942A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=376002;CSQ_ClinVar_CLNSIG=Pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Melanoma&Uveal_melanoma&Malignant_melanoma_of_skin¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50017277;CSQ_COSMICncMuts=COSV50017277&COSV50017277&COSV50017277;CSQ_CGC=oncogene;CSQ_Hotspots=GNA11:Q209;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.833;CSQ_Mastermind_MMID3=GNA11:Q209L;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,5:124:0.04032:65:-97.5933:0.1329:0,2,0,3,0,0,27,44,16,17,12,8:50.024:100 +19 3119239 . C T 100 PASS DP=148;CSQ_Allele=T;CSQ_SYMBOL=GNA11;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/7;CSQ_INTRON=.;CSQ_Feature=NM_002067.5;CSQ_HGVSc=NM_002067.5:c.771C>T;CSQ_HGVSp=NP_002058.2:p.Thr257%3D;CSQ_HGVSg=19:g.3119239C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=258548;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=11793;CSQ_gnomADg_AN=30788;CSQ_gnomADg_AF=0.383039;CSQ_gnomADe_AC=105006;CSQ_gnomADe_AN=245984;CSQ_gnomADe_AF=0.426881;CSQ_gnomADe_Hom=23046;CSQ_COSMICcMuts=COSV50020241;CSQ_COSMICncMuts=COSV50020241&COSV50020241&COSV50020241;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNA11:T257T;CSQ_CADD_PHRED=10.70 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,47:148:0.31757:65:-100:0.1638:7,20,4,7,1,8,27,52,12,25,9,23:100:100 +19 4054199 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=ZBTB7A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_015898.4;CSQ_HGVSc=NM_015898.4:c.1032C>T;CSQ_HGVSp=NP_056982.1:p.Asp344%3D;CSQ_HGVSg=19:g.4054199G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27;CSQ_gnomADg_AN=30752;CSQ_gnomADg_AF=0.000877992;CSQ_gnomADe_AC=373;CSQ_gnomADe_AN=224872;CSQ_gnomADe_AF=0.00165872;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV100475607&COSV100475607;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.525 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,10:135:0.07407:65:-100:0.1346:0,4,0,1,0,5,29,37,20,19,15,15:100:100 +19 4054208 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=ZBTB7A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_015898.4;CSQ_HGVSc=NM_015898.4:c.1023G>A;CSQ_HGVSp=NP_056982.1:p.Ser341%3D;CSQ_HGVSg=19:g.4054208C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1560;CSQ_gnomADg_AN=30690;CSQ_gnomADg_AF=0.0508309;CSQ_gnomADe_AC=3000;CSQ_gnomADe_AN=222286;CSQ_gnomADe_AF=0.0134961;CSQ_gnomADe_Hom=256;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZBTB7A:S341S;CSQ_CADD_PHRED=8.732 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,19:121:0.15702:65:-100:0.1232:4,6,4,3,2,0,29,27,21,16,15,13:100:100 +19 4054640 . G A 100 PASS DP=52;CSQ_Allele=A;CSQ_SYMBOL=ZBTB7A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_015898.4;CSQ_HGVSc=NM_015898.4:c.591C>T;CSQ_HGVSp=NP_056982.1:p.Ala197%3D;CSQ_HGVSg=19:g.4054640G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1042;CSQ_gnomADg_AN=30806;CSQ_gnomADg_AF=0.0338246;CSQ_gnomADe_AC=1754;CSQ_gnomADe_AN=212286;CSQ_gnomADe_AF=0.00826244;CSQ_gnomADe_Hom=107;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZBTB7A:A197A;CSQ_CADD_PHRED=5.759 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,6:52:0.11538:65:-53.5387:0.1613:3,1,0,0,0,2,15,13,5,8,7,4:90.576:100 +19 4055134 . G A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=ZBTB7A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/3;CSQ_INTRON=.;CSQ_Feature=NM_015898.4;CSQ_HGVSc=NM_015898.4:c.97C>T;CSQ_HGVSp=NP_056982.1:p.Leu33%3D;CSQ_HGVSg=19:g.4055134G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59328708&COSV59328708;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,14:168:0.08333:65:-100:0.125:3,3,0,3,1,4,23,53,16,29,12,35:100:100 +19 4101062 . G T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=MAP2K2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_030662.4;CSQ_HGVSc=NM_030662.4:c.660C>A;CSQ_HGVSp=NP_109587.1:p.Ile220%3D;CSQ_HGVSg=19:g.4101062G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=40816;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cardiofaciocutaneous_syndrome_4&RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=13073;CSQ_gnomADg_AN=30762;CSQ_gnomADg_AF=0.424972;CSQ_gnomADe_AC=96372;CSQ_gnomADe_AN=201496;CSQ_gnomADe_AF=0.478282;CSQ_gnomADe_Hom=23429;CSQ_COSMICcMuts=COSV53562256&COSV53562256;CSQ_COSMICncMuts=COSV53562256&COSV53562256&COSV53562256&COSV53562256;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.05;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP2K2:I220I;CSQ_CADD_PHRED=12.12 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,63:151:0.41722:65:-100:0.1793:12,25,0,13,5,8,22,60,4,33,8,24:100:100 +19 4102449 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=MAP2K2;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_030662.4;CSQ_HGVSc=NM_030662.4:c.453C>T;CSQ_HGVSp=NP_109587.1:p.Asp151%3D;CSQ_HGVSg=19:g.4102449G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=46237;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cardiofaciocutaneous_syndrome_4&RASopathy¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=4139;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.134131;CSQ_gnomADe_AC=35714;CSQ_gnomADe_AN=217878;CSQ_gnomADe_AF=0.163917;CSQ_gnomADe_Hom=3410;CSQ_COSMICcMuts=COSV53562460&COSV53562460;CSQ_COSMICncMuts=COSV53562460&COSV53562460&COSV53562460&COSV53562460;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP2K2:D151D&MAP2K2:M150sra;CSQ_CADD_PHRED=1.542 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,38:150:0.25333:65:-100:0.1573:7,10,6,5,3,7,26,48,19,23,10,24:100:100 +19 4117528 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=MAP2K2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/11;CSQ_INTRON=.;CSQ_Feature=NM_030662.4;CSQ_HGVSc=NM_030662.4:c.192C>T;CSQ_HGVSp=NP_109587.1:p.Val64%3D;CSQ_HGVSg=19:g.4117528G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=40770;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cardiofaciocutaneous_syndrome_4&RASopathy¬_specified&Cardiovascular_phenotype;CSQ_gnomADg_AC=2197;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.0710268;CSQ_gnomADe_AC=14764;CSQ_gnomADe_AN=246198;CSQ_gnomADe_AF=0.059968;CSQ_gnomADe_Hom=532;CSQ_COSMICcMuts=COSV53562298&COSV53562298;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.03;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MAP2K2:V64V;CSQ_CADD_PHRED=9.825 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,21:143:0.14685:65:-100:0.128:6,8,1,0,2,4,25,52,12,22,8,24:100:100 +19 5210762 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=34/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.5289C>T;CSQ_HGVSp=NP_002841.3:p.Asp1763%3D;CSQ_HGVSg=19:g.5210762G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3743;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.121062;CSQ_gnomADe_AC=21544;CSQ_gnomADe_AN=246054;CSQ_gnomADe_AF=0.087558;CSQ_gnomADe_Hom=1249;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:D1316D&PTPRS:D1320D&PTPRS:D1725D&PTPRS:D1763D;CSQ_CADD_PHRED=1.697 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,32:151:0.21192:65:-100:0.1657:5,10,1,2,4,10,23,56,10,18,12,32:100:100 +19 5210762 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.3948C>T;CSQ_HGVSp=NP_570923.2:p.Asp1316%3D;CSQ_HGVSg=19:g.5210762G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3743;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.121062;CSQ_gnomADe_AC=21544;CSQ_gnomADe_AN=246054;CSQ_gnomADe_AF=0.087558;CSQ_gnomADe_Hom=1249;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:D1316D&PTPRS:D1320D&PTPRS:D1725D&PTPRS:D1763D;CSQ_CADD_PHRED=1.697 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,32:151:0.21192:65:-100:0.1657:5,10,1,2,4,10,23,56,10,18,12,32:100:100 +19 5210782 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=34/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.5269C>T;CSQ_HGVSp=NP_002841.3:p.Leu1757%3D;CSQ_HGVSg=19:g.5210782G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10115;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.327219;CSQ_gnomADe_AC=68577;CSQ_gnomADe_AN=245820;CSQ_gnomADe_AF=0.278972;CSQ_gnomADe_Hom=10236;CSQ_COSMICcMuts=COSV53614029&COSV53614029&COSV53614029&COSV53614029&COSV53614029&COSV53614029&COSV53614029&COSV53614029;CSQ_COSMICncMuts=COSV53614029;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:L1310L&PTPRS:L1314L&PTPRS:L1719L&PTPRS:L1757L;CSQ_CADD_PHRED=8.356 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,59:156:0.37821:65:-100:0.1475:7,23,3,9,3,14,24,59,13,20,10,30:100:100 +19 5210782 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.3928C>T;CSQ_HGVSp=NP_570923.2:p.Leu1310%3D;CSQ_HGVSg=19:g.5210782G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10115;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.327219;CSQ_gnomADe_AC=68577;CSQ_gnomADe_AN=245820;CSQ_gnomADe_AF=0.278972;CSQ_gnomADe_Hom=10236;CSQ_COSMICcMuts=COSV53614029&COSV53614029&COSV53614029&COSV53614029&COSV53614029&COSV53614029&COSV53614029&COSV53614029;CSQ_COSMICncMuts=COSV53614029;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:L1310L&PTPRS:L1314L&PTPRS:L1719L&PTPRS:L1757L;CSQ_CADD_PHRED=8.356 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,59:156:0.37821:65:-100:0.1475:7,23,3,9,3,14,24,59,13,20,10,30:100:100 +19 5212087 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=32/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.4944C>T;CSQ_HGVSp=NP_002841.3:p.Ala1648%3D;CSQ_HGVSg=19:g.5212087G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1306;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0421644;CSQ_gnomADe_AC=2535;CSQ_gnomADe_AN=245950;CSQ_gnomADe_AF=0.010307;CSQ_gnomADe_Hom=161;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.924 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,16:156:0.10256:65:-100:0.1613:4,6,3,0,1,2,30,63,11,20,15,17:100:100 +19 5212087 . G A 100 PASS DP=156;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=23/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.3603C>T;CSQ_HGVSp=NP_570923.2:p.Ala1201%3D;CSQ_HGVSg=19:g.5212087G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1306;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0421644;CSQ_gnomADe_AC=2535;CSQ_gnomADe_AN=245950;CSQ_gnomADe_AF=0.010307;CSQ_gnomADe_Hom=161;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.924 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,16:156:0.10256:65:-100:0.1613:4,6,3,0,1,2,30,63,11,20,15,17:100:100 +19 5212380 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.4737G>A;CSQ_HGVSp=NP_002841.3:p.Pro1579%3D;CSQ_HGVSg=19:g.5212380C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10712;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.346914;CSQ_gnomADe_AC=76582;CSQ_gnomADe_AN=234714;CSQ_gnomADe_AF=0.326278;CSQ_gnomADe_Hom=13119;CSQ_COSMICcMuts=COSV53608907&COSV53608907&COSV53608907&COSV53608907&COSV53608907&COSV53608907&COSV53608907&COSV53608907;CSQ_COSMICncMuts=COSV53608907;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.533 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,52:140:0.37143:65:-100:0.125:6,27,3,4,7,5,16,57,11,23,16,17:100:100 +19 5212380 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.3396G>A;CSQ_HGVSp=NP_570923.2:p.Pro1132%3D;CSQ_HGVSg=19:g.5212380C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10712;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.346914;CSQ_gnomADe_AC=76582;CSQ_gnomADe_AN=234714;CSQ_gnomADe_AF=0.326278;CSQ_gnomADe_Hom=13119;CSQ_COSMICcMuts=COSV53608907&COSV53608907&COSV53608907&COSV53608907&COSV53608907&COSV53608907&COSV53608907&COSV53608907;CSQ_COSMICncMuts=COSV53608907;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.533 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,52:140:0.37143:65:-100:0.125:6,27,3,4,7,5,16,57,11,23,16,17:100:100 +19 5212482 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.4635C>T;CSQ_HGVSp=NP_002841.3:p.Arg1545%3D;CSQ_HGVSg=19:g.5212482G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3643;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.11782;CSQ_gnomADe_AC=28686;CSQ_gnomADe_AN=208924;CSQ_gnomADe_AF=0.137304;CSQ_gnomADe_Hom=2408;CSQ_COSMICcMuts=COSV53614219&COSV53614219&COSV53614219&COSV53614219&COSV53614219&COSV53614219&COSV53614219&COSV53614219;CSQ_COSMICncMuts=COSV53614219;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:R1098R&PTPRS:R1102R&PTPRS:R1507R&PTPRS:R1545R;CSQ_CADD_PHRED=8.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,17:153:0.11111:65:-100:0.1639:1,6,1,3,2,4,20,55,14,24,12,28:100:100 +19 5212482 . G A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.3294C>T;CSQ_HGVSp=NP_570923.2:p.Arg1098%3D;CSQ_HGVSg=19:g.5212482G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3643;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.11782;CSQ_gnomADe_AC=28686;CSQ_gnomADe_AN=208924;CSQ_gnomADe_AF=0.137304;CSQ_gnomADe_Hom=2408;CSQ_COSMICcMuts=COSV53614219&COSV53614219&COSV53614219&COSV53614219&COSV53614219&COSV53614219&COSV53614219&COSV53614219;CSQ_COSMICncMuts=COSV53614219;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:R1098R&PTPRS:R1102R&PTPRS:R1507R&PTPRS:R1545R;CSQ_CADD_PHRED=8.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,17:153:0.11111:65:-100:0.1639:1,6,1,3,2,4,20,55,14,24,12,28:100:100 +19 5214697 . A G 100 PASS DP=152;CSQ_Allele=G;CSQ_SYMBOL=PTPRS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=29/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.4369T>C;CSQ_HGVSp=NP_002841.3:p.Cys1457Arg;CSQ_HGVSg=19:g.5214697A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30948;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.998774;CSQ_gnomADe_AC=240086;CSQ_gnomADe_AN=240294;CSQ_gnomADe_AF=0.999134;CSQ_gnomADe_Hom=119939;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.184;CSQ_Mastermind_MMID3=PTPRS:C1010R&PTPRS:C1014R&PTPRS:C1419R&PTPRS:C1457R;CSQ_CADD_PHRED=17.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,152:152:1:65:-100:0.1602:24,61,11,26,13,17,24,61,11,26,13,17:100:100 +19 5214697 . A G 100 PASS DP=152;CSQ_Allele=G;CSQ_SYMBOL=PTPRS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.3028T>C;CSQ_HGVSp=NP_570923.2:p.Cys1010Arg;CSQ_HGVSg=19:g.5214697A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30948;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.998774;CSQ_gnomADe_AC=240086;CSQ_gnomADe_AN=240294;CSQ_gnomADe_AF=0.999134;CSQ_gnomADe_Hom=119939;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.04;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=0.184;CSQ_Mastermind_MMID3=PTPRS:C1010R&PTPRS:C1014R&PTPRS:C1419R&PTPRS:C1457R;CSQ_CADD_PHRED=17.33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,152:152:1:65:-100:0.1602:24,61,11,26,13,17,24,61,11,26,13,17:100:100 +19 5220336 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.3484C>T;CSQ_HGVSp=NP_002841.3:p.Arg1162Cys;CSQ_HGVSg=19:g.5220336G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=245782;CSQ_gnomADe_AF=1.22059e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53629463&COSV53629463&COSV53629463&COSV53629463&COSV53629463&COSV53629463&COSV53629463&COSV53629463;CSQ_COSMICncMuts=COSV53629463;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=0.256;CSQ_Mastermind_MMID3=PTPRS:R1162C;CSQ_CADD_PHRED=25.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,12:145:0.08276:65:-100:0.1104:1,3,2,2,3,1,17,59,11,27,10,21:100:100 +19 5220336 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.2191C>T;CSQ_HGVSp=NP_570923.2:p.Arg731Cys;CSQ_HGVSg=19:g.5220336G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=3;CSQ_gnomADe_AN=245782;CSQ_gnomADe_AF=1.22059e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53629463&COSV53629463&COSV53629463&COSV53629463&COSV53629463&COSV53629463&COSV53629463&COSV53629463;CSQ_COSMICncMuts=COSV53629463;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=0.256;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,12:145:0.08276:65:-100:0.1104:1,3,2,2,3,1,17,59,11,27,10,21:100:100 +19 5225802 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.2430C>T;CSQ_HGVSp=NP_002841.3:p.Ala810%3D;CSQ_HGVSg=19:g.5225802G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3958;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.128282;CSQ_gnomADe_AC=19551;CSQ_gnomADe_AN=245798;CSQ_gnomADe_AF=0.0795409;CSQ_gnomADe_Hom=1182;CSQ_COSMICcMuts=COSV53613633&COSV53613633&COSV53613633&COSV53613633&COSV53613633&COSV53613633&COSV53613633&COSV53613633;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:A788A&PTPRS:A810A&PTPRS:I604int&PTPRS:I604inta&PTPRS:I608int&PTPRS:I608inta;CSQ_CADD_PHRED=11.48 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,29:140:0.20714:65:-100:0.1304:7,9,0,3,4,6,26,44,14,25,11,20:100:100 +19 5225802 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=PTPRS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=10/28;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.1811-3571C>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.5225802G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3958;CSQ_gnomADg_AN=30854;CSQ_gnomADg_AF=0.128282;CSQ_gnomADe_AC=19551;CSQ_gnomADe_AN=245798;CSQ_gnomADe_AF=0.0795409;CSQ_gnomADe_Hom=1182;CSQ_COSMICcMuts=COSV53613633&COSV53613633&COSV53613633&COSV53613633&COSV53613633&COSV53613633&COSV53613633&COSV53613633;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-42;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:A788A&PTPRS:A810A&PTPRS:I604int&PTPRS:I604inta&PTPRS:I608int&PTPRS:I608inta;CSQ_CADD_PHRED=11.48 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,29:140:0.20714:65:-100:0.1304:7,9,0,3,4,6,26,44,14,25,11,20:100:100 +19 5244493 . G T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=PTPRS;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.989C>A;CSQ_HGVSp=NP_002841.3:p.Ser330Tyr;CSQ_HGVSg=19:g.5244493G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.334;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=27.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,10:119:0.08403:65:-100:0.1314:0,6,1,1,2,0,15,45,9,23,11,16:100:100 +19 5244493 . G T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=PTPRS;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.950C>A;CSQ_HGVSp=NP_570923.2:p.Ser317Tyr;CSQ_HGVSg=19:g.5244493G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.334;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=27.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,10:119:0.08403:65:-100:0.1314:0,6,1,1,2,0,15,45,9,23,11,16:100:100 +19 5273571 . T G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/38;CSQ_INTRON=.;CSQ_Feature=NM_002850.4;CSQ_HGVSc=NM_002850.4:c.261A>C;CSQ_HGVSp=NP_002841.3:p.Ala87%3D;CSQ_HGVSg=19:g.5273571T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1263463;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6603;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.213565;CSQ_gnomADe_AC=44774;CSQ_gnomADe_AN=246090;CSQ_gnomADe_AF=0.181942;CSQ_gnomADe_Hom=4895;CSQ_COSMICcMuts=COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155;CSQ_COSMICncMuts=COSV53618155&COSV53618155;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:A87A;CSQ_CADD_PHRED=3.591 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0.1494:0,6,2,3,0,3,21,46,17,16,10,21:100:100 +19 5273571 . T G 100 PASS DP=131;CSQ_Allele=G;CSQ_SYMBOL=PTPRS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/29;CSQ_INTRON=.;CSQ_Feature=NM_130853.3;CSQ_HGVSc=NM_130853.3:c.261A>C;CSQ_HGVSp=NP_570923.2:p.Ala87%3D;CSQ_HGVSg=19:g.5273571T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1263463;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=6603;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.213565;CSQ_gnomADe_AC=44774;CSQ_gnomADe_AN=246090;CSQ_gnomADe_AF=0.181942;CSQ_gnomADe_Hom=4895;CSQ_COSMICcMuts=COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155&COSV53618155;CSQ_COSMICncMuts=COSV53618155&COSV53618155;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRS:A87A;CSQ_CADD_PHRED=3.591 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,14:131:0.10687:65:-100:0.1494:0,6,2,3,0,3,21,46,17,16,10,21:100:100 +19 7125297 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.3255C>T;CSQ_HGVSp=NP_000199.2:p.His1085%3D;CSQ_HGVSg=19:g.7125297G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=194701;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=6391;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.20711;CSQ_gnomADe_AC=55338;CSQ_gnomADe_AN=244364;CSQ_gnomADe_AF=0.226457;CSQ_gnomADe_Hom=6963;CSQ_COSMICcMuts=COSV57158382&COSV57158382;CSQ_COSMICncMuts=COSV57158382;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:H1073H&INSR:H1085H;CSQ_CADD_PHRED=0.582 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,38:145:0.26207:65:-100:0.142:3,16,4,6,1,8,21,47,12,23,12,30:100:100 +19 7125297 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.3219C>T;CSQ_HGVSp=NP_001073285.1:p.His1073%3D;CSQ_HGVSg=19:g.7125297G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=194701;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=6391;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.20711;CSQ_gnomADe_AC=55338;CSQ_gnomADe_AN=244364;CSQ_gnomADe_AF=0.226457;CSQ_gnomADe_Hom=6963;CSQ_COSMICcMuts=COSV57158382&COSV57158382;CSQ_COSMICncMuts=COSV57158382;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:H1073H&INSR:H1085H;CSQ_CADD_PHRED=0.582 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,38:145:0.26207:65:-100:0.142:3,16,4,6,1,8,21,47,12,23,12,30:100:100 +19 7125519 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.3033C>T;CSQ_HGVSp=NP_000199.2:p.Tyr1011%3D;CSQ_HGVSg=19:g.7125519G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330447;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=1366;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0441471;CSQ_gnomADe_AC=12459;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.0506871;CSQ_gnomADe_Hom=420;CSQ_COSMICcMuts=COSV57162917&COSV57162917;CSQ_COSMICncMuts=COSV57162917&COSV57162917;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.17;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:Y1011Y&INSR:Y999Y;CSQ_CADD_PHRED=5.868 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1176:3,2,4,3,1,1,24,47,12,27,15,25:100:100 +19 7125519 . G A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.2997C>T;CSQ_HGVSp=NP_001073285.1:p.Tyr999%3D;CSQ_HGVSg=19:g.7125519G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330447;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=1366;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0441471;CSQ_gnomADe_AC=12459;CSQ_gnomADe_AN=245802;CSQ_gnomADe_AF=0.0506871;CSQ_gnomADe_Hom=420;CSQ_COSMICcMuts=COSV57162917&COSV57162917;CSQ_COSMICncMuts=COSV57162917&COSV57162917;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.17;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:Y1011Y&INSR:Y999Y;CSQ_CADD_PHRED=5.868 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,14:150:0.09333:65:-100:0.1176:3,2,4,3,1,1,24,47,12,27,15,25:100:100 +19 7152923 . G C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=INSR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.2045C>G;CSQ_HGVSp=NP_000199.2:p.Ser682Trp;CSQ_HGVSg=19:g.7152923G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57174151&COSV57174151;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.597;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,7:107:0.06542:65:-100:0.2246:2,1,0,2,0,2,26,18,13,20,12,18:87.989:100 +19 7152923 . G C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=INSR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.2045C>G;CSQ_HGVSp=NP_001073285.1:p.Ser682Trp;CSQ_HGVSg=19:g.7152923G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57174151&COSV57174151;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-26;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.597;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,7:107:0.06542:65:-100:0.2246:2,1,0,2,0,2,26,18,13,20,12,18:87.989:100 +19 7163065 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.2007C>T;CSQ_HGVSp=NP_000199.2:p.Phe669%3D;CSQ_HGVSg=19:g.7163065G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330466;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_provided;CSQ_gnomADg_AC=2589;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.0838244;CSQ_gnomADe_AC=15735;CSQ_gnomADe_AN=246240;CSQ_gnomADe_AF=0.0639011;CSQ_gnomADe_Hom=608;CSQ_COSMICcMuts=COSV57158641&COSV57158641;CSQ_COSMICncMuts=COSV57158641;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:F669F;CSQ_CADD_PHRED=6.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,9:125:0.072:65:-100:0.1611:2,0,1,3,2,1,26,34,12,21,14,18:100:100 +19 7163065 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.2007C>T;CSQ_HGVSp=NP_001073285.1:p.Phe669%3D;CSQ_HGVSg=19:g.7163065G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330466;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_provided;CSQ_gnomADg_AC=2589;CSQ_gnomADg_AN=30886;CSQ_gnomADg_AF=0.0838244;CSQ_gnomADe_AC=15735;CSQ_gnomADe_AN=246240;CSQ_gnomADe_AF=0.0639011;CSQ_gnomADe_Hom=608;CSQ_COSMICcMuts=COSV57158641&COSV57158641;CSQ_COSMICncMuts=COSV57158641;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:F669F;CSQ_CADD_PHRED=6.155 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,9:125:0.072:65:-100:0.1611:2,0,1,3,2,1,26,34,12,21,14,18:100:100 +19 7163140 . T G 100 PASS DP=111;CSQ_Allele=G;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.1932A>C;CSQ_HGVSp=NP_000199.2:p.Pro644%3D;CSQ_HGVSg=19:g.7163140T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330467;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_provided;CSQ_gnomADg_AC=3722;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.12043;CSQ_gnomADe_AC=24265;CSQ_gnomADe_AN=246258;CSQ_gnomADe_AF=0.0985349;CSQ_gnomADe_Hom=1893;CSQ_COSMICcMuts=COSV57157822&COSV57157822;CSQ_COSMICncMuts=COSV57157822;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:P644P;CSQ_CADD_PHRED=0.989 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,13:111:0.11712:65:-100:0.1527:2,4,0,3,4,0,11,42,3,23,11,21:100:100 +19 7163140 . T G 100 PASS DP=111;CSQ_Allele=G;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.1932A>C;CSQ_HGVSp=NP_001073285.1:p.Pro644%3D;CSQ_HGVSg=19:g.7163140T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330467;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_provided;CSQ_gnomADg_AC=3722;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.12043;CSQ_gnomADe_AC=24265;CSQ_gnomADe_AN=246258;CSQ_gnomADe_AF=0.0985349;CSQ_gnomADe_Hom=1893;CSQ_COSMICcMuts=COSV57157822&COSV57157822;CSQ_COSMICncMuts=COSV57157822;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:P644P;CSQ_CADD_PHRED=0.989 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,13:111:0.11712:65:-100:0.1527:2,4,0,3,4,0,11,42,3,23,11,21:100:100 +19 7163154 . G A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.1918C>T;CSQ_HGVSp=NP_000199.2:p.Leu640%3D;CSQ_HGVSg=19:g.7163154G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_provided;CSQ_gnomADg_AC=3715;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.120102;CSQ_gnomADe_AC=24259;CSQ_gnomADe_AN=246248;CSQ_gnomADe_AF=0.0985145;CSQ_gnomADe_Hom=1892;CSQ_COSMICcMuts=COSV57157833&COSV57157833;CSQ_COSMICncMuts=COSV57157833;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:L640L;CSQ_CADD_PHRED=0.326 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,10:110:0.09091:65:-100:0.1339:1,2,1,2,4,0,13,36,4,28,12,17:100:100 +19 7163154 . G A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.1918C>T;CSQ_HGVSp=NP_001073285.1:p.Leu640%3D;CSQ_HGVSg=19:g.7163154G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330468;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_provided;CSQ_gnomADg_AC=3715;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.120102;CSQ_gnomADe_AC=24259;CSQ_gnomADe_AN=246248;CSQ_gnomADe_AF=0.0985145;CSQ_gnomADe_Hom=1892;CSQ_COSMICcMuts=COSV57157833&COSV57157833;CSQ_COSMICncMuts=COSV57157833;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:L640L;CSQ_CADD_PHRED=0.326 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,10:110:0.09091:65:-100:0.1339:1,2,1,2,4,0,13,36,4,28,12,17:100:100 +19 7166376 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.1650G>A;CSQ_HGVSp=NP_000199.2:p.Ala550%3D;CSQ_HGVSg=19:g.7166376C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=198697;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=7194;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.232831;CSQ_gnomADe_AC=63118;CSQ_gnomADe_AN=245712;CSQ_gnomADe_AF=0.256878;CSQ_gnomADe_Hom=8167;CSQ_COSMICcMuts=COSV57156775&COSV57156775;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:A550A;CSQ_CADD_PHRED=0.030 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,31:140:0.22143:65:-100:0.1515:5,8,1,8,2,7,21,51,9,24,12,23:100:100 +19 7166376 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.1650G>A;CSQ_HGVSp=NP_001073285.1:p.Ala550%3D;CSQ_HGVSg=19:g.7166376C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=198697;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=7194;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.232831;CSQ_gnomADe_AC=63118;CSQ_gnomADe_AN=245712;CSQ_gnomADe_AF=0.256878;CSQ_gnomADe_Hom=8167;CSQ_COSMICcMuts=COSV57156775&COSV57156775;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:A550A;CSQ_CADD_PHRED=0.030 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,31:140:0.22143:65:-100:0.1515:5,8,1,8,2,7,21,51,9,24,12,23:100:100 +19 7166388 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.1638C>T;CSQ_HGVSp=NP_000199.2:p.Asp546%3D;CSQ_HGVSg=19:g.7166388G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330470;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=7708;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.249547;CSQ_gnomADe_AC=48308;CSQ_gnomADe_AN=245538;CSQ_gnomADe_AF=0.196743;CSQ_gnomADe_Hom=5662;CSQ_COSMICcMuts=COSV57158665&COSV57158665;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:D546D;CSQ_CADD_PHRED=5.828 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,36:126:0.28571:65:-100:0.1656:5,15,3,6,1,6,22,45,7,23,11,18:100:100 +19 7166388 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.1638C>T;CSQ_HGVSp=NP_001073285.1:p.Asp546%3D;CSQ_HGVSg=19:g.7166388G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330470;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=7708;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.249547;CSQ_gnomADe_AC=48308;CSQ_gnomADe_AN=245538;CSQ_gnomADe_AF=0.196743;CSQ_gnomADe_Hom=5662;CSQ_COSMICcMuts=COSV57158665&COSV57158665;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:D546D;CSQ_CADD_PHRED=5.828 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,36:126:0.28571:65:-100:0.1656:5,15,3,6,1,6,22,45,7,23,11,18:100:100 +19 7184518 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/22;CSQ_INTRON=.;CSQ_Feature=NM_000208.4;CSQ_HGVSc=NM_000208.4:c.783C>T;CSQ_HGVSp=NP_000199.2:p.Asp261%3D;CSQ_HGVSg=19:g.7184518G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330475;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Hyperinsulinism_due_to_INSR_deficiency&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=3595;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.116471;CSQ_gnomADe_AC=23947;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.0974041;CSQ_gnomADe_Hom=1455;CSQ_COSMICcMuts=COSV57161309&COSV57161309;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:D261D;CSQ_CADD_PHRED=6.355 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,12:141:0.08511:65:-100:0.1402:1,5,2,1,1,2,19,46,15,24,9,28:100:100 +19 7184518 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=INSR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/21;CSQ_INTRON=.;CSQ_Feature=NM_001079817.3;CSQ_HGVSc=NM_001079817.3:c.783C>T;CSQ_HGVSp=NP_001073285.1:p.Asp261%3D;CSQ_HGVSg=19:g.7184518G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=330475;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Leprechaunism_syndrome&Rabson-Mendenhall_syndrome&Hyperinsulinism_due_to_INSR_deficiency&Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans¬_specified¬_provided;CSQ_gnomADg_AC=3595;CSQ_gnomADg_AN=30866;CSQ_gnomADg_AF=0.116471;CSQ_gnomADe_AC=23947;CSQ_gnomADe_AN=245852;CSQ_gnomADe_AF=0.0974041;CSQ_gnomADe_Hom=1455;CSQ_COSMICcMuts=COSV57161309&COSV57161309;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=INSR:D261D;CSQ_CADD_PHRED=6.355 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,12:141:0.08511:65:-100:0.1402:1,5,2,1,1,2,19,46,15,24,9,28:100:100 +19 10247807 . G A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=37/41;CSQ_INTRON=.;CSQ_Feature=NM_001130823.3;CSQ_HGVSc=NM_001130823.3:c.4443C>T;CSQ_HGVSp=NP_001124295.1:p.Gly1481%3D;CSQ_HGVSg=19:g.10247807G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61576872&COSV61576872&COSV61576872;CSQ_COSMICncMuts=COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.897 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,10:114:0.08772:65:-100:0.1298:2,5,0,2,0,1,17,44,10,15,16,12:100:100 +19 10247807 . G A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=36/40;CSQ_INTRON=.;CSQ_Feature=NM_001379.4;CSQ_HGVSc=NM_001379.4:c.4395C>T;CSQ_HGVSp=NP_001370.1:p.Gly1465%3D;CSQ_HGVSg=19:g.10247807G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61576872&COSV61576872&COSV61576872;CSQ_COSMICncMuts=COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872&COSV61576872;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.897 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,10:114:0.08772:65:-100:0.1298:2,5,0,2,0,1,17,44,10,15,16,12:100:100 +19 10251572 . G C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=32/41;CSQ_INTRON=.;CSQ_Feature=NM_001130823.3;CSQ_HGVSc=NM_001130823.3:c.3408C>G;CSQ_HGVSp=NP_001124295.1:p.Pro1136%3D;CSQ_HGVSg=19:g.10251572G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=327894;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_provided;CSQ_gnomADg_AC=24;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.000775094;CSQ_gnomADe_AC=199;CSQ_gnomADe_AN=245908;CSQ_gnomADe_AF=0.000809246;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV61577046&COSV61577046&COSV61577046;CSQ_COSMICncMuts=COSV61577046&COSV61577046&COSV61577046&COSV61577046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT1:P1015P&DNMT1:P1120P&DNMT1:P1136P;CSQ_CADD_PHRED=0.351 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,8:135:0.05926:65:-100:0.1176:2,2,1,1,1,1,20,57,11,17,9,21:100:100 +19 10251572 . G C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=31/40;CSQ_INTRON=.;CSQ_Feature=NM_001379.4;CSQ_HGVSc=NM_001379.4:c.3360C>G;CSQ_HGVSp=NP_001370.1:p.Pro1120%3D;CSQ_HGVSg=19:g.10251572G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=327894;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_provided;CSQ_gnomADg_AC=24;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.000775094;CSQ_gnomADe_AC=199;CSQ_gnomADe_AN=245908;CSQ_gnomADe_AF=0.000809246;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV61577046&COSV61577046&COSV61577046;CSQ_COSMICncMuts=COSV61577046&COSV61577046&COSV61577046&COSV61577046;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT1:P1015P&DNMT1:P1120P&DNMT1:P1136P;CSQ_CADD_PHRED=0.351 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,8:135:0.05926:65:-100:0.1176:2,2,1,1,1,1,20,57,11,17,9,21:100:100 +19 10265312 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/41;CSQ_INTRON=.;CSQ_Feature=NM_001130823.3;CSQ_HGVSc=NM_001130823.3:c.1782A>G;CSQ_HGVSp=NP_001124295.1:p.Thr594%3D;CSQ_HGVSg=19:g.10265312T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257537;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_dominant_cerebellar_ataxia&_deafness_and_narcolepsy&Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=30685;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.990542;CSQ_gnomADe_AC=243473;CSQ_gnomADe_AN=245730;CSQ_gnomADe_AF=0.990815;CSQ_gnomADe_Hom=120625;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT1:T473T&DNMT1:T578T&DNMT1:T594T;CSQ_CADD_PHRED=0.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,159:160:0.99375:65:-100:0.1398:32,49,13,27,10,28,32,49,13,28,10,28:100:100 +19 10265312 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/40;CSQ_INTRON=.;CSQ_Feature=NM_001379.4;CSQ_HGVSc=NM_001379.4:c.1734A>G;CSQ_HGVSp=NP_001370.1:p.Thr578%3D;CSQ_HGVSg=19:g.10265312T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257537;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_dominant_cerebellar_ataxia&_deafness_and_narcolepsy&Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=30685;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.990542;CSQ_gnomADe_AC=243473;CSQ_gnomADe_AN=245730;CSQ_gnomADe_AF=0.990815;CSQ_gnomADe_Hom=120625;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT1:T473T&DNMT1:T578T&DNMT1:T594T;CSQ_CADD_PHRED=0.359 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,159:160:0.99375:65:-100:0.1398:32,49,13,27,10,28,32,49,13,28,10,28:100:100 +19 10265593 . G T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/41;CSQ_INTRON=.;CSQ_Feature=NM_001130823.3;CSQ_HGVSc=NM_001130823.3:c.1632C>A;CSQ_HGVSp=NP_001124295.1:p.Ile544%3D;CSQ_HGVSg=19:g.10265593G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137134;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified;CSQ_gnomADg_AC=2174;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0701924;CSQ_gnomADe_AC=17483;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.0709941;CSQ_gnomADe_Hom=758;CSQ_COSMICcMuts=COSV61576246&COSV61576246&COSV61576246;CSQ_COSMICncMuts=COSV61576246&COSV61576246;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT1:I423I&DNMT1:I528I&DNMT1:I544I;CSQ_CADD_PHRED=10.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,12:125:0.096:65:-100:0.1319:3,5,0,1,2,1,20,50,8,20,7,20:100:100 +19 10265593 . G T 100 PASS DP=125;CSQ_Allele=T;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/40;CSQ_INTRON=.;CSQ_Feature=NM_001379.4;CSQ_HGVSc=NM_001379.4:c.1584C>A;CSQ_HGVSp=NP_001370.1:p.Ile528%3D;CSQ_HGVSg=19:g.10265593G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137134;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified;CSQ_gnomADg_AC=2174;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0701924;CSQ_gnomADe_AC=17483;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.0709941;CSQ_gnomADe_Hom=758;CSQ_COSMICcMuts=COSV61576246&COSV61576246&COSV61576246;CSQ_COSMICncMuts=COSV61576246&COSV61576246;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT1:I423I&DNMT1:I528I&DNMT1:I544I;CSQ_CADD_PHRED=10.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,12:125:0.096:65:-100:0.1319:3,5,0,1,2,1,20,50,8,20,7,20:100:100 +19 10267077 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/41;CSQ_INTRON=.;CSQ_Feature=NM_001130823.3;CSQ_HGVSc=NM_001130823.3:c.1389A>G;CSQ_HGVSp=NP_001124295.1:p.Pro463%3D;CSQ_HGVSg=19:g.10267077T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257536;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_dominant_cerebellar_ataxia&_deafness_and_narcolepsy&Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=15825;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.513799;CSQ_gnomADe_AC=127644;CSQ_gnomADe_AN=246130;CSQ_gnomADe_AF=0.518604;CSQ_gnomADe_Hom=33490;CSQ_COSMICcMuts=COSV61577791&COSV61577791&COSV61577791;CSQ_COSMICncMuts=COSV61577791&COSV61577791&COSV61577791&COSV61577791&COSV61577791;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT1:P342P&DNMT1:P447P&DNMT1:P463P;CSQ_CADD_PHRED=0.470 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,63:111:0.56757:65:-100:0.1395:15,15,4,15,4,10,30,24,12,24,8,13:100:100 +19 10267077 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/40;CSQ_INTRON=.;CSQ_Feature=NM_001379.4;CSQ_HGVSc=NM_001379.4:c.1341A>G;CSQ_HGVSp=NP_001370.1:p.Pro447%3D;CSQ_HGVSg=19:g.10267077T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257536;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Autosomal_dominant_cerebellar_ataxia&_deafness_and_narcolepsy&Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=15825;CSQ_gnomADg_AN=30800;CSQ_gnomADg_AF=0.513799;CSQ_gnomADe_AC=127644;CSQ_gnomADe_AN=246130;CSQ_gnomADe_AF=0.518604;CSQ_gnomADe_Hom=33490;CSQ_COSMICcMuts=COSV61577791&COSV61577791&COSV61577791;CSQ_COSMICncMuts=COSV61577791&COSV61577791&COSV61577791&COSV61577791&COSV61577791;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT1:P342P&DNMT1:P447P&DNMT1:P463P;CSQ_CADD_PHRED=0.470 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:48,63:111:0.56757:65:-100:0.1395:15,15,4,15,4,10,30,24,12,24,8,13:100:100 +19 10273372 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/41;CSQ_INTRON=.;CSQ_Feature=NM_001130823.3;CSQ_HGVSc=NM_001130823.3:c.979A>G;CSQ_HGVSp=NP_001124295.1:p.Ile327Val;CSQ_HGVSg=19:g.10273372T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137133;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified;CSQ_gnomADg_AC=3232;CSQ_gnomADg_AN=30512;CSQ_gnomADg_AF=0.105926;CSQ_gnomADe_AC=33852;CSQ_gnomADe_AN=246176;CSQ_gnomADe_AF=0.137511;CSQ_gnomADe_Hom=3758;CSQ_COSMICcMuts=COSV61579616&COSV61579616&COSV61579616;CSQ_COSMICncMuts=COSV61579616;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=0.180;CSQ_Mastermind_MMID3=DNMT1:I206V&DNMT1:I311V&DNMT1:I327V;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,33:122:0.27049:65:-100:0.1701:6,9,3,4,4,7,21,31,7,23,11,29:100:100 +19 10273372 . T C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/40;CSQ_INTRON=.;CSQ_Feature=NM_001379.4;CSQ_HGVSc=NM_001379.4:c.931A>G;CSQ_HGVSp=NP_001370.1:p.Ile311Val;CSQ_HGVSg=19:g.10273372T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=137133;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified;CSQ_gnomADg_AC=3232;CSQ_gnomADg_AN=30512;CSQ_gnomADg_AF=0.105926;CSQ_gnomADe_AC=33852;CSQ_gnomADe_AN=246176;CSQ_gnomADe_AF=0.137511;CSQ_gnomADe_Hom=3758;CSQ_COSMICcMuts=COSV61579616&COSV61579616&COSV61579616;CSQ_COSMICncMuts=COSV61579616;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=-29;CSQ_REVEL=0.180;CSQ_Mastermind_MMID3=DNMT1:I206V&DNMT1:I311V&DNMT1:I327V;CSQ_CADD_PHRED=0.002 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,33:122:0.27049:65:-100:0.1701:6,9,3,4,4,7,21,31,7,23,11,29:100:100 +19 10291181 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/41;CSQ_INTRON=.;CSQ_Feature=NM_001130823.3;CSQ_HGVSc=NM_001130823.3:c.290A>G;CSQ_HGVSp=NP_001124295.1:p.His97Arg;CSQ_HGVSg=19:g.10291181T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257539;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=418;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0135013;CSQ_gnomADe_AC=5845;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.0237347;CSQ_gnomADe_Hom=474;CSQ_COSMICcMuts=COSV61577559&COSV61577559&COSV61577559;CSQ_COSMICncMuts=COSV61577559;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.021;CSQ_Mastermind_MMID3=DNMT1:5UTR&DNMT1:H97R;CSQ_CADD_PHRED=6.595 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,8:138:0.05797:65:-97.0235:0.1429:1,3,0,2,0,2,14,47,16,34,3,24:88.315:100 +19 10291181 . T C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=DNMT1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/40;CSQ_INTRON=.;CSQ_Feature=NM_001379.4;CSQ_HGVSc=NM_001379.4:c.290A>G;CSQ_HGVSp=NP_001370.1:p.His97Arg;CSQ_HGVSg=19:g.10291181T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=257539;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_sensory_neuropathy-deafness-dementia_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=418;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.0135013;CSQ_gnomADe_AC=5845;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.0237347;CSQ_gnomADe_Hom=474;CSQ_COSMICcMuts=COSV61577559&COSV61577559&COSV61577559;CSQ_COSMICncMuts=COSV61577559;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.08;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.021;CSQ_Mastermind_MMID3=DNMT1:5UTR&DNMT1:H97R;CSQ_CADD_PHRED=6.595 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,8:138:0.05797:65:-97.0235:0.1429:1,3,0,2,0,2,14,47,16,34,3,24:88.315:100 +19 10600042 . C T 100 PASS DP=73;CSQ_Allele=T;CSQ_SYMBOL=KEAP1;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/6;CSQ_INTRON=.;CSQ_Feature=NM_012289.4;CSQ_HGVSc=NM_012289.4:c.1534G>A;CSQ_HGVSp=NP_036421.2:p.Val512Ile;CSQ_HGVSg=19:g.10600042C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=3.23394e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=244432;CSQ_gnomADe_AF=9.00046e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=0.440;CSQ_Mastermind_MMID3=KEAP1:G511sra&KEAP1:V512I;CSQ_CADD_PHRED=24.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:66,7:73:0.09589:65:-50.5284:0.131:0,3,1,1,1,1,9,26,7,14,7,10:83.69:100 +19 10600442 . G C 100 PASS DP=123;CSQ_Allele=C;CSQ_SYMBOL=KEAP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_012289.4;CSQ_HGVSc=NM_012289.4:c.1413C>G;CSQ_HGVSp=NP_036421.2:p.Leu471%3D;CSQ_HGVSg=19:g.10600442G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14670;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.475959;CSQ_gnomADe_AC=101267;CSQ_gnomADe_AN=245920;CSQ_gnomADe_AF=0.411788;CSQ_gnomADe_Hom=22135;CSQ_COSMICcMuts=COSV50260426&COSV50260426;CSQ_COSMICncMuts=COSV50260426&COSV50260426&COSV50260426&COSV50260426&COSV50260426&COSV50260426;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KEAP1:L471L;CSQ_CADD_PHRED=3.657 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,26:123:0.21138:65:-100:0.1277:6,6,3,3,2,6,14,50,9,23,7,20:100:100 +19 10602530 . C T 100 PASS DP=79;CSQ_Allele=T;CSQ_SYMBOL=KEAP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/6;CSQ_INTRON=.;CSQ_Feature=NM_012289.4;CSQ_HGVSc=NM_012289.4:c.1048G>A;CSQ_HGVSp=NP_036421.2:p.Gly350Ser;CSQ_HGVSg=19:g.10602530C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=235658;CSQ_gnomADe_AF=4.24344e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV50260816&COSV50260816;CSQ_COSMICncMuts=COSV50260816&COSV50260816&COSV50260816&COSV50260816&COSV50260816&COSV50260816&COSV50260816;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-29;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.288;CSQ_Mastermind_MMID3=KEAP1:G350S;CSQ_CADD_PHRED=20.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:67,12:79:0.1519:65:-100:0.21:1,3,0,4,1,3,8,28,6,16,8,13:100:100 +19 10610236 . A G 100 PASS DP=146;CSQ_Allele=G;CSQ_SYMBOL=KEAP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_012289.4;CSQ_HGVSc=NM_012289.4:c.474T>C;CSQ_HGVSp=NP_036421.2:p.Gly158%3D;CSQ_HGVSg=19:g.10610236A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3472;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.112203;CSQ_gnomADe_AC=19671;CSQ_gnomADe_AN=245260;CSQ_gnomADe_AF=0.0802047;CSQ_gnomADe_Hom=1034;CSQ_COSMICcMuts=COSV50270216&COSV50270216;CSQ_COSMICncMuts=COSV50270216;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KEAP1:G158G;CSQ_CADD_PHRED=5.273 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,8:146:0.05479:65:-100:0.1257:2,2,0,2,1,1,23,49,9,24,16,25:60.223:100 +19 11096868 . A AC 100 PASS DP=89;CSQ_Allele=C;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/33;CSQ_INTRON=.;CSQ_Feature=NM_001128845.2;CSQ_HGVSc=NM_001128845.2:c.363dup;CSQ_HGVSp=NP_001122317.1:p.Ser122LeufsTer7;CSQ_HGVSg=19:g.11096872dup;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:S122fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,6:89:0.06742:65:-100:0:0,2,2,2,0,0,14,23,17,14,9,12:72.574:100 +19 11096868 . A AC 100 PASS DP=89;CSQ_Allele=C;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=4/36;CSQ_INTRON=.;CSQ_Feature=NM_001128849.3;CSQ_HGVSc=NM_001128849.3:c.363dup;CSQ_HGVSp=NP_001122321.1:p.Ser122LeufsTer7;CSQ_HGVSg=19:g.11096872dup;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843&COSV60785843;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:S122fs;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:83,6:89:0.06742:65:-100:0:0,2,2,2,0,0,14,23,17,14,9,12:72.574:100 +19 11101993 . G A 100 PASS DP=99;CSQ_Allele=A;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/33;CSQ_INTRON=.;CSQ_Feature=NM_001128845.2;CSQ_HGVSc=NM_001128845.2:c.1413G>A;CSQ_HGVSp=NP_001122317.1:p.Lys471%3D;CSQ_HGVSg=19:g.11101993G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126356;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_2&Intellectual_disability&_autosomal_dominant_16&Hereditary_cancer-predisposing_syndrome&Coffin-Siris_syndrome¬_specified;CSQ_gnomADg_AC=909;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0293491;CSQ_gnomADe_AC=5369;CSQ_gnomADe_AN=210120;CSQ_gnomADe_AF=0.0255521;CSQ_gnomADe_Hom=109;CSQ_COSMICcMuts=COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:K471K;CSQ_CADD_PHRED=9.953 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,10:99:0.10101:65:-100:0.175:0,4,1,1,1,3,20,34,7,13,9,16:100:100 +19 11101993 . G A 100 PASS DP=99;CSQ_Allele=A;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/36;CSQ_INTRON=.;CSQ_Feature=NM_001128849.3;CSQ_HGVSc=NM_001128849.3:c.1413G>A;CSQ_HGVSp=NP_001122321.1:p.Lys471%3D;CSQ_HGVSg=19:g.11101993G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126356;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_2&Intellectual_disability&_autosomal_dominant_16&Hereditary_cancer-predisposing_syndrome&Coffin-Siris_syndrome¬_specified;CSQ_gnomADg_AC=909;CSQ_gnomADg_AN=30972;CSQ_gnomADg_AF=0.0293491;CSQ_gnomADe_AC=5369;CSQ_gnomADe_AN=210120;CSQ_gnomADe_AF=0.0255521;CSQ_gnomADe_Hom=109;CSQ_COSMICcMuts=COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992&COSV60789992;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:K471K;CSQ_CADD_PHRED=9.953 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,10:99:0.10101:65:-100:0.175:0,4,1,1,1,3,20,34,7,13,9,16:100:100 +19 11105593 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/33;CSQ_INTRON=.;CSQ_Feature=NM_001128845.2;CSQ_HGVSc=NM_001128845.2:c.1509A>G;CSQ_HGVSp=NP_001122317.1:p.Ala503%3D;CSQ_HGVSg=19:g.11105593A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126358;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_2&Intellectual_disability&_autosomal_dominant_16&Hereditary_cancer-predisposing_syndrome&Coffin-Siris_syndrome¬_specified;CSQ_gnomADg_AC=797;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0257279;CSQ_gnomADe_AC=6145;CSQ_gnomADe_AN=246200;CSQ_gnomADe_AF=0.0249594;CSQ_gnomADe_Hom=121;CSQ_COSMICcMuts=COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:A503A;CSQ_CADD_PHRED=10.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,19:135:0.14074:65:-100:0.1509:1,9,2,2,1,4,30,46,11,19,10,19:100:100 +19 11105593 . A G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/36;CSQ_INTRON=.;CSQ_Feature=NM_001128849.3;CSQ_HGVSc=NM_001128849.3:c.1509A>G;CSQ_HGVSp=NP_001122321.1:p.Ala503%3D;CSQ_HGVSg=19:g.11105593A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126358;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_2&Intellectual_disability&_autosomal_dominant_16&Hereditary_cancer-predisposing_syndrome&Coffin-Siris_syndrome¬_specified;CSQ_gnomADg_AC=797;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.0257279;CSQ_gnomADe_AC=6145;CSQ_gnomADe_AN=246200;CSQ_gnomADe_AF=0.0249594;CSQ_gnomADe_Hom=121;CSQ_COSMICcMuts=COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516&COSV60792516;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:A503A;CSQ_CADD_PHRED=10.25 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,19:135:0.14074:65:-100:0.1509:1,9,2,2,1,4,30,46,11,19,10,19:100:100 +19 11105608 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/33;CSQ_INTRON=.;CSQ_Feature=NM_001128845.2;CSQ_HGVSc=NM_001128845.2:c.1524T>C;CSQ_HGVSp=NP_001122317.1:p.His508%3D;CSQ_HGVSg=19:g.11105608T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126359;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_2&Intellectual_disability&_autosomal_dominant_16&Hereditary_cancer-predisposing_syndrome&Coffin-Siris_syndrome¬_specified;CSQ_gnomADg_AC=10038;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.324791;CSQ_gnomADe_AC=80555;CSQ_gnomADe_AN=245622;CSQ_gnomADe_AF=0.327963;CSQ_gnomADe_Hom=13798;CSQ_COSMICcMuts=COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:H508H;CSQ_CADD_PHRED=6.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,30:141:0.21277:65:-100:0.1188:5,10,2,5,1,7,28,46,13,20,11,23:100:100 +19 11105608 . T C 100 PASS DP=141;CSQ_Allele=C;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/36;CSQ_INTRON=.;CSQ_Feature=NM_001128849.3;CSQ_HGVSc=NM_001128849.3:c.1524T>C;CSQ_HGVSp=NP_001122321.1:p.His508%3D;CSQ_HGVSg=19:g.11105608T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126359;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_2&Intellectual_disability&_autosomal_dominant_16&Hereditary_cancer-predisposing_syndrome&Coffin-Siris_syndrome¬_specified;CSQ_gnomADg_AC=10038;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.324791;CSQ_gnomADe_AC=80555;CSQ_gnomADe_AN=245622;CSQ_gnomADe_AF=0.327963;CSQ_gnomADe_Hom=13798;CSQ_COSMICcMuts=COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320&COSV60787320;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:H508H;CSQ_CADD_PHRED=6.025 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,30:141:0.21277:65:-100:0.1188:5,10,2,5,1,7,28,46,13,20,11,23:100:100 +19 11132491 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/33;CSQ_INTRON=.;CSQ_Feature=NM_001128845.2;CSQ_HGVSc=NM_001128845.2:c.2707G>A;CSQ_HGVSp=NP_001122317.1:p.Ala903Thr;CSQ_HGVSg=19:g.11132491G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=0.677;CSQ_Mastermind_MMID3=SMARCA4:A903T;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,9:141:0.06383:65:-100:0.1943:3,3,0,0,1,2,23,55,19,16,8,20:100:100 +19 11132491 . G A 100 PASS DP=141;CSQ_Allele=A;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/36;CSQ_INTRON=.;CSQ_Feature=NM_001128849.3;CSQ_HGVSc=NM_001128849.3:c.2707G>A;CSQ_HGVSp=NP_001122321.1:p.Ala903Thr;CSQ_HGVSg=19:g.11132491G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=0.677;CSQ_Mastermind_MMID3=SMARCA4:A903T;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,9:141:0.06383:65:-100:0.1943:3,3,0,0,1,2,23,55,19,16,8,20:100:100 +19 11170839 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=32/33;CSQ_INTRON=.;CSQ_Feature=NM_001128845.2;CSQ_HGVSc=NM_001128845.2:c.4797T>C;CSQ_HGVSp=NP_001122317.1:p.Asp1599%3D;CSQ_HGVSg=19:g.11170839T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126365;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_2&Intellectual_disability&_autosomal_dominant_16&Hereditary_cancer-predisposing_syndrome&Coffin-Siris_syndrome¬_specified;CSQ_gnomADg_AC=8428;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.273104;CSQ_gnomADe_AC=38884;CSQ_gnomADe_AN=148156;CSQ_gnomADe_AF=0.262453;CSQ_gnomADe_Hom=5552;CSQ_COSMICcMuts=COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038;CSQ_COSMICncMuts=COSV60786038;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:D1595D&SMARCA4:D1596D&SMARCA4:D1598D&SMARCA4:D1599D&SMARCA4:D1629D&SMARCA4:D1661D;CSQ_CADD_PHRED=1.123 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,11:114:0.09649:65:-100:0.1915:1,4,1,3,0,2,18,37,12,18,6,23:88.426:100 +19 11170839 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=SMARCA4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=35/36;CSQ_INTRON=.;CSQ_Feature=NM_001128849.3;CSQ_HGVSc=NM_001128849.3:c.4983T>C;CSQ_HGVSp=NP_001122321.1:p.Asp1661%3D;CSQ_HGVSg=19:g.11170839T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126365;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_2&Intellectual_disability&_autosomal_dominant_16&Hereditary_cancer-predisposing_syndrome&Coffin-Siris_syndrome¬_specified;CSQ_gnomADg_AC=8428;CSQ_gnomADg_AN=30860;CSQ_gnomADg_AF=0.273104;CSQ_gnomADe_AC=38884;CSQ_gnomADe_AN=148156;CSQ_gnomADe_AF=0.262453;CSQ_gnomADe_Hom=5552;CSQ_COSMICcMuts=COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038&COSV60786038;CSQ_COSMICncMuts=COSV60786038;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCA4:D1595D&SMARCA4:D1596D&SMARCA4:D1598D&SMARCA4:D1599D&SMARCA4:D1629D&SMARCA4:D1661D;CSQ_CADD_PHRED=1.123 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,11:114:0.09649:65:-100:0.1915:1,4,1,3,0,2,18,37,12,18,6,23:88.426:100 +19 13051383 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=CALR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/9;CSQ_INTRON=.;CSQ_Feature=NM_004343.4;CSQ_HGVSc=NM_004343.4:c.731A>G;CSQ_HGVSp=NP_004334.1:p.Asp244Gly;CSQ_HGVSg=19:g.13051383A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57116973;CSQ_COSMICncMuts=COSV57116973&COSV57116973&COSV57116973&COSV57116973&COSV57116973;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.772;CSQ_Mastermind_MMID3=CALR:D244G;CSQ_CADD_PHRED=27.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,12:148:0.08108:65:-100:0.1543:3,4,0,1,1,3,22,61,11,17,18,19:100:100 +19 14627050 . G A 100 PASS DP=151;CSQ_Allele=A;CSQ_SYMBOL=DNAJB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_006145.3;CSQ_HGVSc=NM_006145.3:c.793-68C>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.14627050G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25922;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.839497;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54317084&COSV54317084;CSQ_COSMICncMuts=COSV54317084&COSV54317084&COSV54317084&COSV54317084&COSV54317084&COSV54317084&COSV54317084&COSV54317084;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNAJB1:E164int&DNAJB1:E164inta&DNAJB1:E264int&DNAJB1:E264inta;CSQ_CADD_PHRED=3.972 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,113:151:0.74834:65:-100:0.1749:17,32,10,25,10,19,25,50,13,29,10,24:100:100 +19 14627093 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=DNAJB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_006145.3;CSQ_HGVSc=NM_006145.3:c.793-111A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.14627093T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3382;CSQ_gnomADg_AN=30786;CSQ_gnomADg_AF=0.109855;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=26;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.060 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,8:150:0.05333:65:-46.4267:0.1713:0,5,0,0,0,3,22,56,9,28,8,27:65.608:100 +19 14627245 . CCT C 100 PASS DP=154;CSQ_Allele=-;CSQ_SYMBOL=DNAJB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_006145.3;CSQ_HGVSc=NM_006145.3:c.792+31_792+32del;CSQ_HGVSp=.;CSQ_HGVSg=19:g.14627248_14627249del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1919;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0619952;CSQ_gnomADe_AC=11782;CSQ_gnomADe_AN=236988;CSQ_gnomADe_AF=0.0497156;CSQ_gnomADe_Hom=335;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=47;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.065 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,8:154:0.05195:65:-95.0578:0:1,4,0,0,1,2,21,52,13,26,20,22:81.692:100 +19 14628076 . T G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=DNAJB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_006145.3;CSQ_HGVSc=NM_006145.3:c.212-218A>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.14628076T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-38;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.786 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,9:137:0.06569:65:-100:0.1274:0,3,2,3,0,1,18,48,10,20,14,27:100:100 +19 14628242 . G A 100 PASS DP=145;CSQ_Allele=A;CSQ_SYMBOL=DNAJB1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/2;CSQ_Feature=NM_006145.3;CSQ_HGVSc=NM_006145.3:c.212-384C>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.14628242G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8994;CSQ_gnomADg_AN=29232;CSQ_gnomADg_AF=0.307677;CSQ_gnomADe_AC=45;CSQ_gnomADe_AN=216;CSQ_gnomADe_AF=0.208333;CSQ_gnomADe_Hom=11;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNAJB1:5UTR&DNAJB1:5UTRint&DNAJB1:5UTRinta&DNAJB1:5UTRintd&DNAJB1:G71int&DNAJB1:G71inta;CSQ_CADD_PHRED=1.363 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,69:145:0.47586:65:-100:0.0994:8,20,9,13,2,17,17,41,16,29,10,32:100:100 +19 14629138 . C T 100 PASS DP=85;CSQ_Allele=T;CSQ_SYMBOL=DNAJB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_006145.3;CSQ_HGVSc=NM_006145.3:c.24G>A;CSQ_HGVSp=NP_006136.1:p.Thr8%3D;CSQ_HGVSg=19:g.14629138C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=107;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.00346458;CSQ_gnomADe_AC=839;CSQ_gnomADe_AN=228796;CSQ_gnomADe_AF=0.00366702;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=COSV54317801&COSV54317801;CSQ_COSMICncMuts=COSV54317801&COSV54317801;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=48;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.70 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,7:85:0.08235:65:-100:0.0957:1,3,0,1,2,0,12,31,6,16,8,12:100:100 +19 14629150 . G A 100 PASS DP=72;CSQ_Allele=A;CSQ_SYMBOL=DNAJB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/3;CSQ_INTRON=.;CSQ_Feature=NM_006145.3;CSQ_HGVSc=NM_006145.3:c.12C>T;CSQ_HGVSp=NP_006136.1:p.Asp4%3D;CSQ_HGVSg=19:g.14629150G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10383;CSQ_gnomADg_AN=30730;CSQ_gnomADg_AF=0.337878;CSQ_gnomADe_AC=73750;CSQ_gnomADe_AN=215224;CSQ_gnomADe_AF=0.342666;CSQ_gnomADe_Hom=13206;CSQ_COSMICcMuts=COSV54316981&COSV54316981;CSQ_COSMICncMuts=COSV54316981&COSV54316981;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNAJB1:5UTR&DNAJB1:5UTRint&DNAJB1:5UTRinta&DNAJB1:D4D;CSQ_CADD_PHRED=12.20 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,9:72:0.125:65:-100:0.122:1,2,0,1,3,2,12,26,5,12,9,8:100:100 +19 15271771 . G A 100 PASS DP=120;CSQ_Allele=A;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=33/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.6668C>T;CSQ_HGVSp=NP_000426.2:p.Ala2223Val;CSQ_HGVSg=19:g.15271771G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256152;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1&Lateral_meningocele_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=21730;CSQ_gnomADg_AN=30826;CSQ_gnomADg_AF=0.704924;CSQ_gnomADe_AC=138326;CSQ_gnomADe_AN=193360;CSQ_gnomADe_AF=0.715381;CSQ_gnomADe_Hom=50432;CSQ_COSMICcMuts=COSV54625824;CSQ_COSMICncMuts=COSV54625824&COSV54625824;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=27;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=0.143;CSQ_Mastermind_MMID3=NOTCH3:A2223V;CSQ_CADD_PHRED=13.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:35,85:120:0.70833:65:-100:0.1304:21,25,6,13,6,14,29,35,10,16,10,20:100:100 +19 15276739 . A G 100 PASS DP=156;CSQ_Allele=G;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=30/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.5526T>C;CSQ_HGVSp=NP_000426.2:p.Ala1842%3D;CSQ_HGVSg=19:g.15276739A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256144;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1¬_specified¬_provided;CSQ_gnomADg_AC=3552;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.114937;CSQ_gnomADe_AC=8453;CSQ_gnomADe_AN=246090;CSQ_gnomADe_AF=0.0343492;CSQ_gnomADe_Hom=1185;CSQ_COSMICcMuts=COSV54642976;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH3:A1842A;CSQ_CADD_PHRED=10.73 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,26:156:0.16667:65:-100:0.1285:5,9,2,5,3,2,24,54,17,28,11,22:100:100 +19 15278222 . C T 100 PASS DP=91;CSQ_Allele=T;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=29/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.5200G>A;CSQ_HGVSp=NP_000426.2:p.Val1734Ile;CSQ_HGVSg=19:g.15278222C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54646269;CSQ_COSMICncMuts=COSV54646269;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.16;CSQ_SpliceAI_pred_DS_AL=0.08;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.171;CSQ_Mastermind_MMID3=NOTCH3:K1733sra&NOTCH3:V1734I;CSQ_CADD_PHRED=23.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,5:91:0.05495:65:-100:0.1727:2,0,1,0,1,1,15,29,11,15,10,11:84.47:100 +19 15285052 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.4563A>G;CSQ_HGVSp=NP_000426.2:p.Pro1521%3D;CSQ_HGVSg=19:g.15285052T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256138;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1&Lateral_meningocele_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=28175;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.911223;CSQ_gnomADe_AC=182960;CSQ_gnomADe_AN=212092;CSQ_gnomADe_AF=0.862645;CSQ_gnomADe_Hom=79323;CSQ_COSMICcMuts=COSV54629991;CSQ_COSMICncMuts=COSV54629991&COSV54629991&COSV54629991&COSV54629991;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH3:P1521P;CSQ_CADD_PHRED=7.332 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:3,108:111:0.97297:65:-100:0.1395:18,29,19,14,14,14,19,30,19,15,14,14:100:100 +19 15285145 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=25/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.4470G>A;CSQ_HGVSp=NP_000426.2:p.Thr1490%3D;CSQ_HGVSg=19:g.15285145C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=3.23039e-05;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=149712;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54638746;CSQ_COSMICncMuts=COSV54638746&COSV54638746&COSV54638746&COSV54638746;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.869 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,9:134:0.06716:65:-100:0.1355:1,2,3,3,0,0,33,36,14,18,12,21:100:100 +19 15289874 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.3680G>A;CSQ_HGVSp=NP_000426.2:p.Gly1227Asp;CSQ_HGVSg=19:g.15289874C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54627778;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=0.241;CSQ_Mastermind_MMID3=NOTCH3:G1227D;CSQ_CADD_PHRED=19.99 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,16:161:0.09938:65:-100:0.1202:5,4,0,4,3,0,23,58,9,24,20,27:100:100 +19 15289954 . CA C 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=22/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.3599del;CSQ_HGVSp=NP_000426.2:p.Leu1200CysfsTer72;CSQ_HGVSg=19:g.15289957del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54627795;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.04;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,22:157:0.14013:65:-100:0:3,6,2,4,0,7,23,56,16,29,7,26:100:100 +19 15290007 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=22/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.3547G>A;CSQ_HGVSp=NP_000426.2:p.Val1183Met;CSQ_HGVSg=19:g.15290007C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256133;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1¬_specified¬_provided;CSQ_gnomADg_AC=2305;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.074552;CSQ_gnomADe_AC=6095;CSQ_gnomADe_AN=245570;CSQ_gnomADe_AF=0.0248198;CSQ_gnomADe_Hom=513;CSQ_COSMICcMuts=COSV54643886;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=0.636;CSQ_Mastermind_MMID3=NOTCH3:V1183M;CSQ_CADD_PHRED=23.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,15:136:0.11029:65:-100:0.1605:4,5,0,4,0,2,24,47,10,22,9,24:100:100 +19 15291576 . C G 100 PASS DP=139;CSQ_Allele=G;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=19/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.3058G>C;CSQ_HGVSp=NP_000426.2:p.Ala1020Pro;CSQ_HGVSg=19:g.15291576C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=9227;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1&Lateral_meningocele_syndrome&Myofibromatosis&_infantile&_2¬_specified¬_provided;CSQ_gnomADg_AC=3000;CSQ_gnomADg_AN=30914;CSQ_gnomADg_AF=0.0970434;CSQ_gnomADe_AC=7662;CSQ_gnomADe_AN=223426;CSQ_gnomADe_AF=0.0342932;CSQ_gnomADe_Hom=680;CSQ_COSMICcMuts=COSV54631885;CSQ_COSMICncMuts=COSV54631885&COSV54631885;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=0.162;CSQ_Mastermind_MMID3=NOTCH3:A1020P;CSQ_CADD_PHRED=13.91 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0.1313:4,4,1,0,2,2,39,45,6,21,11,17:100:100 +19 15292437 . T C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.2742A>G;CSQ_HGVSp=NP_000426.2:p.Pro914%3D;CSQ_HGVSg=19:g.15292437T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256130;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1&Lateral_meningocele_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=24187;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.782245;CSQ_gnomADe_AC=118414;CSQ_gnomADe_AN=147344;CSQ_gnomADe_AF=0.803657;CSQ_gnomADe_Hom=48026;CSQ_COSMICcMuts=COSV54638490;CSQ_COSMICncMuts=COSV54638490&COSV54638490;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH3:P914P;CSQ_CADD_PHRED=0.214 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:15,92:107:0.85981:65:-100:0.1008:16,24,12,13,12,15,17,33,12,14,14,17:100:100 +19 15295134 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.2538C>T;CSQ_HGVSp=NP_000426.2:p.Cys846%3D;CSQ_HGVSg=19:g.15295134G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256129;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1&Lateral_meningocele_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=18116;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.586658;CSQ_gnomADe_AC=158135;CSQ_gnomADe_AN=245958;CSQ_gnomADe_AF=0.642935;CSQ_gnomADe_Hom=52841;CSQ_COSMICcMuts=COSV54643242;CSQ_COSMICncMuts=COSV54643242;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH3:C846C;CSQ_CADD_PHRED=2.262 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,61:113:0.53982:65:-100:0.1691:7,23,5,8,6,12,17,47,10,15,9,15:100:100 +19 15302844 . T C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.606A>G;CSQ_HGVSp=NP_000426.2:p.Ala202%3D;CSQ_HGVSg=19:g.15302844T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256148;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1&Lateral_meningocele_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=27225;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.88084;CSQ_gnomADe_AC=208202;CSQ_gnomADe_AN=245408;CSQ_gnomADe_AF=0.848391;CSQ_gnomADe_Hom=88822;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH3:A202A;CSQ_CADD_PHRED=0.238 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,142:150:0.94667:65:-100:0.1848:16,46,12,28,8,32,17,50,12,31,8,32:100:100 +19 15302905 . C T 100 PASS DP=160;CSQ_Allele=T;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.545G>A;CSQ_HGVSp=NP_000426.2:p.Arg182His;CSQ_HGVSg=19:g.15302905C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=447857;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245066;CSQ_gnomADe_AF=4.08053e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54635387;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-8;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=0.143;CSQ_Mastermind_MMID3=NOTCH3:R182H;CSQ_CADD_PHRED=18.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,13:160:0.08125:65:-100:0.1257:4,2,0,0,4,3,29,45,11,29,14,32:100:100 +19 15303035 . C T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.415G>A;CSQ_HGVSp=NP_000426.2:p.Asp139Asn;CSQ_HGVSg=19:g.15303035C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=892158;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=6;CSQ_gnomADe_AN=229328;CSQ_gnomADe_AF=2.61634e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54649638;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.14;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=24;CSQ_REVEL=0.202;CSQ_Mastermind_MMID3=NOTCH3:D139N;CSQ_CADD_PHRED=17.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,8:144:0.05556:65:-100:0.1529:0,3,3,0,2,0,28,54,14,18,11,19:85.184:100 +19 15303225 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=NOTCH3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/33;CSQ_INTRON=.;CSQ_Feature=NM_000435.3;CSQ_HGVSc=NM_000435.3:c.303C>T;CSQ_HGVSp=NP_000426.2:p.Thr101%3D;CSQ_HGVSg=19:g.15303225G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256131;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Cerebral_arteriopathy&_autosomal_dominant&_with_subcortical_infarcts_and_leukoencephalopathy&_type_1&Lateral_meningocele_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5513;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.178657;CSQ_gnomADe_AC=41665;CSQ_gnomADe_AN=239848;CSQ_gnomADe_AF=0.173714;CSQ_gnomADe_Hom=4011;CSQ_COSMICcMuts=COSV54629774;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NOTCH3:T101T;CSQ_CADD_PHRED=6.707 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,44:149:0.2953:65:-100:0.1183:5,14,7,7,4,7,23,48,13,32,8,25:100:100 +19 15349971 . G A 100 PASS DP=111;CSQ_Allele=A;CSQ_SYMBOL=BRD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/20;CSQ_INTRON=.;CSQ_Feature=NM_058243.3;CSQ_HGVSc=NM_058243.3:c.3681C>T;CSQ_HGVSp=NP_490597.1:p.Phe1227%3D;CSQ_HGVSg=19:g.15349971G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=787604;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=153;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.00494218;CSQ_gnomADe_AC=856;CSQ_gnomADe_AN=244220;CSQ_gnomADe_AF=0.00350504;CSQ_gnomADe_Hom=2;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRD4:F1227F;CSQ_CADD_PHRED=1.224 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,10:111:0.09009:65:-100:0.1838:1,2,3,2,0,2,20,39,16,15,9,12:100:100 +19 15350594 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=BRD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/20;CSQ_INTRON=.;CSQ_Feature=NM_058243.3;CSQ_HGVSc=NM_058243.3:c.3321C>T;CSQ_HGVSp=NP_490597.1:p.Leu1107%3D;CSQ_HGVSg=19:g.15350594G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1600450;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=4987;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.161727;CSQ_gnomADe_AC=38526;CSQ_gnomADe_AN=243800;CSQ_gnomADe_AF=0.158023;CSQ_gnomADe_Hom=3386;CSQ_COSMICcMuts=COSV54583814;CSQ_COSMICncMuts=COSV54583814&COSV54583814;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BRD4:L1107L;CSQ_CADD_PHRED=8.970 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,6:126:0.04762:65:-47.9243:0.131:1,2,0,1,2,0,20,41,16,19,7,23:61.935:100 +19 15366938 . CT C 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=BRD4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_014299.3;CSQ_HGVSc=NM_014299.3:c.1687del;CSQ_HGVSp=NP_055114.1:p.Ser563AlafsTer21;CSQ_HGVSg=19:g.15366945del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,9:157:0.05732:65:-100:0:3,1,2,2,0,1,37,35,18,30,20,17:95.657:100 +19 15366938 . CT C 100 PASS DP=157;CSQ_Allele=-;CSQ_SYMBOL=BRD4;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/20;CSQ_INTRON=.;CSQ_Feature=NM_058243.3;CSQ_HGVSc=NM_058243.3:c.1687del;CSQ_HGVSp=NP_490597.1:p.Ser563AlafsTer21;CSQ_HGVSg=19:g.15366945del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:148,9:157:0.05732:65:-100:0:3,1,2,2,0,1,37,35,18,30,20,17:95.657:100 +19 15367947 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=BRD4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/12;CSQ_INTRON=.;CSQ_Feature=NM_014299.3;CSQ_HGVSc=NM_014299.3:c.1379A>G;CSQ_HGVSp=NP_055114.1:p.Glu460Gly;CSQ_HGVSg=19:g.15367947T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54582920&COSV54582920&COSV54582920;CSQ_COSMICncMuts=COSV54582920;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.482;CSQ_Mastermind_MMID3=BRD4:E460G;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,13:145:0.08966:65:-100:0.1369:3,4,0,5,1,0,26,56,10,26,13,14:100:100 +19 15367947 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=BRD4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/20;CSQ_INTRON=.;CSQ_Feature=NM_058243.3;CSQ_HGVSc=NM_058243.3:c.1379A>G;CSQ_HGVSp=NP_490597.1:p.Glu460Gly;CSQ_HGVSg=19:g.15367947T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54582920&COSV54582920&COSV54582920;CSQ_COSMICncMuts=COSV54582920;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.482;CSQ_Mastermind_MMID3=BRD4:E460G;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,13:145:0.08966:65:-100:0.1369:3,4,0,5,1,0,26,56,10,26,13,14:100:100 +19 15375544 . T G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=BRD4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_014299.3;CSQ_HGVSc=NM_014299.3:c.883A>C;CSQ_HGVSp=NP_055114.1:p.Thr295Pro;CSQ_HGVSg=19:g.15375544T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54591081&COSV54591081&COSV54591081;CSQ_COSMICncMuts=COSV54591081&COSV54591081&COSV54591081&COSV54591081;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=0.383;CSQ_Mastermind_MMID3=BRD4:T295P;CSQ_CADD_PHRED=27.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,17:127:0.13386:65:-100:0.1753:2,7,1,4,1,2,13,51,11,22,9,21:100:100 +19 15375544 . T G 100 PASS DP=127;CSQ_Allele=G;CSQ_SYMBOL=BRD4;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/20;CSQ_INTRON=.;CSQ_Feature=NM_058243.3;CSQ_HGVSc=NM_058243.3:c.883A>C;CSQ_HGVSp=NP_490597.1:p.Thr295Pro;CSQ_HGVSg=19:g.15375544T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54591081&COSV54591081&COSV54591081;CSQ_COSMICncMuts=COSV54591081&COSV54591081&COSV54591081&COSV54591081;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=0.383;CSQ_Mastermind_MMID3=BRD4:T295P;CSQ_CADD_PHRED=27.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,17:127:0.13386:65:-100:0.1753:2,7,1,4,1,2,13,51,11,22,9,21:100:100 +19 15376438 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=BRD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/12;CSQ_INTRON=.;CSQ_Feature=NM_014299.3;CSQ_HGVSc=NM_014299.3:c.576C>T;CSQ_HGVSp=NP_055114.1:p.Gly192%3D;CSQ_HGVSg=19:g.15376438G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245448;CSQ_gnomADe_AF=8.14837e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54582760&COSV54582760&COSV54582760;CSQ_COSMICncMuts=COSV54582760&COSV54582760&COSV54582760;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.210 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,15:135:0.11111:65:-100:0.106:1,6,1,1,3,3,23,52,11,22,9,18:100:100 +19 15376438 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=BRD4;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/20;CSQ_INTRON=.;CSQ_Feature=NM_058243.3;CSQ_HGVSc=NM_058243.3:c.576C>T;CSQ_HGVSp=NP_490597.1:p.Gly192%3D;CSQ_HGVSg=19:g.15376438G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=245448;CSQ_gnomADe_AF=8.14837e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54582760&COSV54582760&COSV54582760;CSQ_COSMICncMuts=COSV54582760&COSV54582760&COSV54582760;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.210 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,15:135:0.11111:65:-100:0.106:1,6,1,1,3,3,23,52,11,22,9,18:100:100 +19 18273013 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=PIK3R2;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/16;CSQ_INTRON=.;CSQ_Feature=NM_005027.4;CSQ_HGVSc=NM_005027.4:c.903G>A;CSQ_HGVSp=NP_005018.2:p.Ala301%3D;CSQ_HGVSg=19:g.18273013G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=468326;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=1163;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.0376375;CSQ_gnomADe_AC=10205;CSQ_gnomADe_AN=234792;CSQ_gnomADe_AF=0.043464;CSQ_gnomADe_Hom=289;CSQ_COSMICcMuts=COSV55848943;CSQ_COSMICncMuts=COSV55848943&COSV55848943;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3R2:A301A&PIK3R2:A301sra;CSQ_CADD_PHRED=9.169 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,8:101:0.07921:65:-100:0.1513:0,4,2,0,0,2,5,37,5,28,7,19:62.982:100 +19 18273047 . T C 100 PASS DP=105;CSQ_Allele=C;CSQ_SYMBOL=PIK3R2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/16;CSQ_INTRON=.;CSQ_Feature=NM_005027.4;CSQ_HGVSc=NM_005027.4:c.937T>C;CSQ_HGVSp=NP_005018.2:p.Ser313Pro;CSQ_HGVSg=19:g.18273047T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=803546;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1¬_specified;CSQ_gnomADg_AC=29563;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.956979;CSQ_gnomADe_AC=230241;CSQ_gnomADe_AN=241848;CSQ_gnomADe_AF=0.952007;CSQ_gnomADe_Hom=109653;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.024;CSQ_Mastermind_MMID3=PIK3R2:S313P;CSQ_CADD_PHRED=3.242 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,105:105:1:65:-100:0.16:12,34,13,17,7,22,12,34,13,17,7,22:100:100 +19 18279638 . T C 100 PASS DP=169;CSQ_Allele=C;CSQ_SYMBOL=PIK3R2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/16;CSQ_INTRON=.;CSQ_Feature=NM_005027.4;CSQ_HGVSc=NM_005027.4:c.1911T>C;CSQ_HGVSp=NP_005018.2:p.Ser637%3D;CSQ_HGVSg=19:g.18279638T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=518294;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=26609;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.861411;CSQ_gnomADe_AC=212341;CSQ_gnomADe_AN=240898;CSQ_gnomADe_AF=0.881456;CSQ_gnomADe_Hom=93730;CSQ_COSMICcMuts=COSV55849419;CSQ_COSMICncMuts=COSV55849419&COSV55849419;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PIK3R2:S637S;CSQ_CADD_PHRED=6.868 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,141:169:0.83432:65:-100:0.1244:23,55,16,14,14,19,29,62,17,21,16,24:100:100 +19 19256620 . C T 100 PASS DP=52;CSQ_Allele=T;CSQ_SYMBOL=MEF2B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001145785.2;CSQ_HGVSc=NM_001145785.2:c.1093G>A;CSQ_HGVSp=NP_001139257.1:p.Gly365Ser;CSQ_HGVSg=19:g.19256620C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=759;CSQ_gnomADg_AN=30858;CSQ_gnomADg_AF=0.0245965;CSQ_gnomADe_AC=781;CSQ_gnomADe_AN=128680;CSQ_gnomADe_AF=0.00606932;CSQ_gnomADe_Hom=38;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.131;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.85 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:38,14:52:0.26923:65:-100:0.1613:5,3,1,4,1,0,14,12,9,10,5,2:100:100 +19 30307451 . T A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=CCNE1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001238.4;CSQ_HGVSc=NM_001238.4:c.181-593T>A;CSQ_HGVSp=.;CSQ_HGVSg=19:g.30307451T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=350;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0113034;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.265 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,9:126:0.07143:65:-100:0.1486:3,4,1,1,0,0,20,46,16,22,8,14:100:100 +19 30311132 . G C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=CCNE1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/11;CSQ_Feature=NM_001238.4;CSQ_HGVSc=NM_001238.4:c.463-477G>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.30311132G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=464;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=0.0149832;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.303 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,8:140:0.05714:65:-100:0.125:2,1,0,1,0,4,31,51,15,13,5,25:83.965:100 +19 30312518 . C T 100 PASS DP=108;CSQ_Allele=T;CSQ_SYMBOL=CCNE1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/11;CSQ_Feature=NM_001238.4;CSQ_HGVSc=NM_001238.4:c.610-111C>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.30312518C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=23;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.327 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,10:108:0.09259:65:-100:0.3032:2,2,0,2,2,2,15,32,6,17,20,18:100:100 +19 30314666 . C T 100 PASS DP=142;CSQ_Allele=T;CSQ_SYMBOL=CCNE1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001238.4;CSQ_HGVSc=NM_001238.4:c.1215C>T;CSQ_HGVSp=NP_001229.1:p.Ser405%3D;CSQ_HGVSg=19:g.30314666C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9517;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.307994;CSQ_gnomADe_AC=78117;CSQ_gnomADe_AN=245462;CSQ_gnomADe_AF=0.318245;CSQ_gnomADe_Hom=13836;CSQ_COSMICcMuts=COSV52904337&COSV52904337&COSV52904337;CSQ_COSMICncMuts=COSV52904337;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-44;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CCNE1:S356S&CCNE1:S360S&CCNE1:S390S&CCNE1:S405S;CSQ_CADD_PHRED=0.221 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,27:142:0.19014:65:-100:0.1394:6,6,3,6,1,5,21,42,17,25,8,29:100:100 +19 30314868 . GT G 100 PASS DP=138;CSQ_Allele=-;CSQ_SYMBOL=CCNE1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001238.4;CSQ_HGVSc=NM_001238.4:c.*192del;CSQ_HGVSp=.;CSQ_HGVSg=19:g.30314876del;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=3.22914e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.220 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,7:138:0.05072:65:-96.2334:0:1,1,0,4,0,1,24,47,10,23,10,24:63.605:100 +19 40737242 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=AKT2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_001243028.3;CSQ_HGVSc=NM_001243028.3:c.*2537A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40737242T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30962;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.552 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,152:152:1:65:-100:0.1602:22,46,15,18,19,32,22,46,15,18,19,32:100:100 +19 40737242 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=AKT2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001626.6;CSQ_HGVSc=NM_001626.6:c.*2537A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40737242T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30962;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.552 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,152:152:1:65:-100:0.1602:22,46,15,18,19,32,22,46,15,18,19,32:100:100 +19 40743956 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=AKT2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/13;CSQ_INTRON=.;CSQ_Feature=NM_001243028.3;CSQ_HGVSc=NM_001243028.3:c.565C>T;CSQ_HGVSp=NP_001229957.1:p.Arg189Trp;CSQ_HGVSg=19:g.40743956G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60910038&COSV60910038&COSV60910038&COSV60910038;CSQ_COSMICncMuts=COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=0.456;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=27.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:172,11:183:0.06011:65:-100:0.1202:2,2,1,2,1,3,30,65,19,24,20,25:100:100 +19 40743956 . G A 100 PASS DP=183;CSQ_Allele=A;CSQ_SYMBOL=AKT2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/14;CSQ_INTRON=.;CSQ_Feature=NM_001626.6;CSQ_HGVSc=NM_001626.6:c.751C>T;CSQ_HGVSp=NP_001617.1:p.Arg251Trp;CSQ_HGVSg=19:g.40743956G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60910038&COSV60910038&COSV60910038&COSV60910038;CSQ_COSMICncMuts=COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038&COSV60910038;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=0.456;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=27.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:172,11:183:0.06011:65:-100:0.1202:2,2,1,2,1,3,30,65,19,24,20,25:100:100 +19 40744882 . TG T 100 PASS DP=102;CSQ_Allele=-;CSQ_SYMBOL=AKT2;CSQ_Consequence=splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=6/12;CSQ_Feature=NM_001243028.3;CSQ_HGVSc=NM_001243028.3:c.454-3del;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40744887del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,7:102:0.06863:65:-98.3625:0:2,2,1,1,0,1,11,33,11,22,6,19:90.783:100 +19 40744882 . TG T 100 PASS DP=102;CSQ_Allele=-;CSQ_SYMBOL=AKT2;CSQ_Consequence=splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_001626.6;CSQ_HGVSc=NM_001626.6:c.640-3del;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40744887del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,7:102:0.06863:65:-98.3625:0:2,2,1,1,0,1,11,33,11,22,6,19:90.783:100 +19 40766162 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_001243028.3;CSQ_HGVSc=NM_001243028.3:c.-140-3201T>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40766162A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,7:134:0.05224:65:-97.0235:0.1976:2,1,0,2,1,1,29,49,10,20,9,17:75.014:100 +19 40766162 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/13;CSQ_Feature=NM_001626.6;CSQ_HGVSc=NM_001626.6:c.47-3201T>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40766162A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,7:134:0.05224:65:-97.0235:0.1976:2,1,0,2,1,1,29,49,10,20,9,17:75.014:100 +19 40766170 . A C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_001243028.3;CSQ_HGVSc=NM_001243028.3:c.-140-3209T>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40766170A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-97.1625:0.1916:2,1,0,2,1,1,32,44,11,23,12,13:100:100 +19 40766170 . A C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/13;CSQ_Feature=NM_001626.6;CSQ_HGVSc=NM_001626.6:c.47-3209T>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40766170A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,7:135:0.05185:65:-97.1625:0.1916:2,1,0,2,1,1,32,44,11,23,12,13:100:100 +19 40776408 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_001243028.3;CSQ_HGVSc=NM_001243028.3:c.-140-13447T>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40776408A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30372;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.980944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,139:148:0.93919:65:-100:0.1294:19,47,11,22,14,26,22,49,12,22,14,29:100:100 +19 40776408 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001626.6;CSQ_HGVSc=NM_001626.6:c.-84-5150T>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40776408A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30372;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.980944;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=14.95 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,139:148:0.93919:65:-100:0.1294:19,47,11,22,14,26,22,49,12,22,14,29:100:100 +19 40784838 . C G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_001243028.3;CSQ_HGVSc=NM_001243028.3:c.-141+6250G>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40784838C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6669;CSQ_gnomADg_AN=30756;CSQ_gnomADg_AF=0.216836;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.510 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,42:126:0.33333:65:-100:0.2125:7,12,4,7,3,9,17,53,12,20,10,14:100:100 +19 40784838 . C G 100 PASS DP=126;CSQ_Allele=G;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001626.6;CSQ_HGVSc=NM_001626.6:c.-85+6250G>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40784838C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6669;CSQ_gnomADg_AN=30756;CSQ_gnomADg_AF=0.216836;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.510 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,42:126:0.33333:65:-100:0.2125:7,12,4,7,3,9,17,53,12,20,10,14:100:100 +19 40784865 . C G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_001243028.3;CSQ_HGVSc=NM_001243028.3:c.-141+6223G>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40784865C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.240 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,14:137:0.10219:65:-100:0.1747:0,6,3,1,3,1,23,59,16,17,9,13:100:100 +19 40784865 . C G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=AKT2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001626.6;CSQ_HGVSc=NM_001626.6:c.-85+6223G>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.40784865C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.240 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,14:137:0.10219:65:-100:0.1747:0,6,3,1,3,1,23,59,16,17,9,13:100:100 +19 41725271 . A G 100 PASS DP=89;CSQ_Allele=G;CSQ_SYMBOL=AXL;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/20;CSQ_INTRON=.;CSQ_Feature=NM_021913.5;CSQ_HGVSc=NM_021913.5:c.-27A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41725271A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1248751;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=15503;CSQ_gnomADg_AN=30678;CSQ_gnomADg_AF=0.505346;CSQ_gnomADe_AC=78877;CSQ_gnomADe_AN=168922;CSQ_gnomADe_AF=0.466943;CSQ_gnomADe_Hom=19014;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXL:5UTR;CSQ_CADD_PHRED=15.76 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,39:89:0.4382:65:-100:0.1909:5,7,4,6,8,9,15,25,13,10,13,13:100:100 +19 41727833 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=AXL;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001278599.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41727833A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,13:133:0.09774:65:-100:0.1739:2,6,0,1,1,3,21,42,12,27,9,22:100:100 +19 41727833 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=AXL;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/20;CSQ_INTRON=.;CSQ_Feature=NM_021913.5;CSQ_HGVSc=NM_021913.5:c.458A>G;CSQ_HGVSp=NP_068713.2:p.Asn153Ser;CSQ_HGVSg=19:g.41727833A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=0.121;CSQ_Mastermind_MMID3=AXL:N153S;CSQ_CADD_PHRED=22.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,13:133:0.09774:65:-100:0.1739:2,6,0,1,1,3,21,42,12,27,9,22:100:100 +19 41732688 . G T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=AXL;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/17;CSQ_INTRON=.;CSQ_Feature=NM_001278599.2;CSQ_HGVSc=NM_001278599.2:c.-348G>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41732688G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2990;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0966449;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.446 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,20:159:0.12579:65:-100:0.1405:5,1,2,5,2,5,27,41,17,30,16,28:100:100 +19 41732688 . G T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=AXL;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/19;CSQ_Feature=NM_021913.5;CSQ_HGVSc=NM_021913.5:c.587-4184G>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41732688G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2990;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.0966449;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXL:5UTR&AXL:G196int&AXL:G196inta;CSQ_CADD_PHRED=8.446 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,20:159:0.12579:65:-100:0.1405:5,1,2,5,2,5,27,41,17,30,16,28:100:100 +19 41732727 . C G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=AXL;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/17;CSQ_INTRON=.;CSQ_Feature=NM_001278599.2;CSQ_HGVSc=NM_001278599.2:c.-309C>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41732727C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12237;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.395994;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.185 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,49:135:0.36296:65:-100:0.1916:4,12,4,12,6,11,15,34,12,29,18,27:100:100 +19 41732727 . C G 100 PASS DP=135;CSQ_Allele=G;CSQ_SYMBOL=AXL;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/19;CSQ_Feature=NM_021913.5;CSQ_HGVSc=NM_021913.5:c.587-4145C>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41732727C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12237;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.395994;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXL:5UTR&AXL:G196int&AXL:G196inta;CSQ_CADD_PHRED=7.185 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,49:135:0.36296:65:-100:0.1916:4,12,4,12,6,11,15,34,12,29,18,27:100:100 +19 41743861 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=AXL;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_001278599.2;CSQ_HGVSc=NM_001278599.2:c.-9A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41743861A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1641277;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30910;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=244076;CSQ_gnomADe_AN=244076;CSQ_gnomADe_AF=1;CSQ_gnomADe_Hom=122038;CSQ_COSMICcMuts=COSV56563446&COSV56563446&COSV56563446;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.48 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,141:141:1:65:-100:0.0903:28,33,18,29,11,22,28,33,18,29,11,22:100:100 +19 41743861 . A G 100 PASS DP=141;CSQ_Allele=G;CSQ_SYMBOL=AXL;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/20;CSQ_INTRON=.;CSQ_Feature=NM_021913.5;CSQ_HGVSc=NM_021913.5:c.796A>G;CSQ_HGVSp=NP_068713.2:p.Asp266%3D;CSQ_HGVSg=19:g.41743861A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1641277;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=30910;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=244076;CSQ_gnomADe_AN=244076;CSQ_gnomADe_AF=1;CSQ_gnomADe_Hom=122038;CSQ_COSMICcMuts=COSV56563446&COSV56563446&COSV56563446;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.48 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,141:141:1:65:-100:0.0903:28,33,18,29,11,22,28,33,18,29,11,22:100:100 +19 41758310 . T A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=AXL;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/17;CSQ_INTRON=.;CSQ_Feature=NM_001278599.2;CSQ_HGVSc=NM_001278599.2:c.962T>A;CSQ_HGVSp=NP_001265528.1:p.Met321Lys;CSQ_HGVSg=19:g.41758310T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56563437&COSV56563437&COSV56563437;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=0.951;CSQ_Mastermind_MMID3=AXL:M321K&AXL:M580K&AXL:M589K;CSQ_CADD_PHRED=27.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,11:148:0.07432:65:-100:0.119:3,4,0,3,1,0,25,47,12,32,14,18:100:100 +19 41758310 . T A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=AXL;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/20;CSQ_INTRON=.;CSQ_Feature=NM_021913.5;CSQ_HGVSc=NM_021913.5:c.1766T>A;CSQ_HGVSp=NP_068713.2:p.Met589Lys;CSQ_HGVSg=19:g.41758310T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56563437&COSV56563437&COSV56563437;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=0.951;CSQ_Mastermind_MMID3=AXL:M321K&AXL:M580K&AXL:M589K;CSQ_CADD_PHRED=27.0 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,11:148:0.07432:65:-100:0.119:3,4,0,3,1,0,25,47,12,32,14,18:100:100 +19 41766978 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=AXL;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001278599.2;CSQ_HGVSc=NM_001278599.2:c.*1169G>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41766978G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2685;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0867696;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXL:3UTR;CSQ_CADD_PHRED=2.591 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,13:129:0.10078:65:-100:0.1224:3,4,3,2,0,1,16,40,13,29,12,19:100:100 +19 41766978 . G C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=AXL;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_021913.5;CSQ_HGVSc=NM_021913.5:c.*1169G>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41766978G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2685;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0867696;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXL:3UTR;CSQ_CADD_PHRED=2.591 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,13:129:0.10078:65:-100:0.1224:3,4,3,2,0,1,16,40,13,29,12,19:100:100 +19 41767295 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=AXL;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=17/17;CSQ_INTRON=.;CSQ_Feature=NM_001278599.2;CSQ_HGVSc=NM_001278599.2:c.*1486C>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41767295C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2265;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0731542;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXL:3UTR;CSQ_CADD_PHRED=5.668 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,14:151:0.09272:65:-100:0.1322:3,2,1,4,3,1,28,57,12,26,12,16:100:100 +19 41767295 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=AXL;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_021913.5;CSQ_HGVSc=NM_021913.5:c.*1486C>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.41767295C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2265;CSQ_gnomADg_AN=30962;CSQ_gnomADg_AF=0.0731542;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=22;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AXL:3UTR;CSQ_CADD_PHRED=5.668 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,14:151:0.09272:65:-100:0.1322:3,2,1,4,3,1,28,57,12,26,12,16:100:100 +19 42791338 . G C 100 PASS DP=147;CSQ_Allele=C;CSQ_SYMBOL=CIC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/20;CSQ_INTRON=.;CSQ_Feature=NM_015125.5;CSQ_HGVSc=NM_015125.5:c.398G>C;CSQ_HGVSp=NP_055940.3:p.Gly133Ala;CSQ_HGVSg=19:g.42791338G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=0.082;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.16 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,8:147:0.05442:65:-96.8868:0.1695:1,3,1,1,1,1,24,55,16,25,6,21:80.492:100 +19 42795554 . T C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=CIC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/20;CSQ_INTRON=.;CSQ_Feature=NM_015125.5;CSQ_HGVSc=NM_015125.5:c.2634T>C;CSQ_HGVSp=NP_055940.3:p.Ala878%3D;CSQ_HGVSg=19:g.42795554T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1246218;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1874;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.060663;CSQ_gnomADe_AC=19248;CSQ_gnomADe_AN=242058;CSQ_gnomADe_AF=0.0795181;CSQ_gnomADe_Hom=996;CSQ_COSMICcMuts=COSV50554025&COSV50554025&COSV50554025;CSQ_COSMICncMuts=COSV50554025&COSV50554025&COSV50554025&COSV50554025&COSV50554025;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CIC:A1787A&CIC:A878A;CSQ_CADD_PHRED=7.720 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,11:143:0.07692:65:-100:0.1686:2,6,1,1,0,1,25,59,16,12,11,20:100:100 +19 42799049 . C T 100 PASS DP=145;CSQ_Allele=T;CSQ_SYMBOL=CIC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/20;CSQ_INTRON=.;CSQ_Feature=NM_015125.5;CSQ_HGVSc=NM_015125.5:c.4533C>T;CSQ_HGVSp=NP_055940.3:p.Ile1511%3D;CSQ_HGVSg=19:g.42799049C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1251193;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8131;CSQ_gnomADg_AN=30822;CSQ_gnomADg_AF=0.263805;CSQ_gnomADe_AC=60813;CSQ_gnomADe_AN=236346;CSQ_gnomADe_AF=0.257305;CSQ_gnomADe_Hom=10478;CSQ_COSMICcMuts=COSV50546563&COSV50546563&COSV50546563;CSQ_COSMICncMuts=COSV50546563&COSV50546563&COSV50546563&COSV50546563&COSV50546563;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-20;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CIC:I1508I&CIC:I1509I&CIC:I1511I&CIC:I2419I&CIC:I2420I;CSQ_CADD_PHRED=10.59 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,43:145:0.29655:65:-100:0.2077:9,10,3,7,4,10,23,47,15,26,13,21:100:100 +19 45854919 . T G 100 PASS DP=173;CSQ_Allele=G;CSQ_SYMBOL=ERCC2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.2251A>C;CSQ_HGVSp=NP_000391.1:p.Lys751Gln;CSQ_HGVSg=19:g.45854919T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134105;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Non-small_cell_lung_carcinoma&Bone_osteosarcoma&Xeroderma_pigmentosum&_group_D&Trichothiodystrophy_1&_photosensitive&Cerebrooculofacioskeletal_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=9886;CSQ_gnomADg_AN=30864;CSQ_gnomADg_AF=0.320308;CSQ_gnomADe_AC=79959;CSQ_gnomADe_AN=245140;CSQ_gnomADe_AF=0.326177;CSQ_gnomADe_Hom=14443;CSQ_COSMICcMuts=COSV67266431&COSV67266431;CSQ_COSMICncMuts=COSV67266431&COSV67266431&COSV67266431&COSV67266431&COSV67266431&COSV67266431&COSV67266431&COSV67266431&COSV67266431;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=0.205;CSQ_Mastermind_MMID3=ERCC2:K751Q;CSQ_CADD_PHRED=19.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,41:173:0.23699:65:-100:0.0942:9,12,2,8,2,8,36,55,15,27,10,30:100:100 +19 45855524 . G A 100 PASS DP=176;CSQ_Allele=A;CSQ_SYMBOL=ERCC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=22/23;CSQ_INTRON=.;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.2133C>T;CSQ_HGVSp=NP_000391.1:p.Asp711%3D;CSQ_HGVSg=19:g.45855524G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256018;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_D&Trichothiodystrophy_1&_photosensitive&Cerebrooculofacioskeletal_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=8076;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.261528;CSQ_gnomADe_AC=69720;CSQ_gnomADe_AN=246048;CSQ_gnomADe_AF=0.283359;CSQ_gnomADe_Hom=11431;CSQ_COSMICcMuts=COSV67266435&COSV67266435;CSQ_COSMICncMuts=COSV67266435&COSV67266435&COSV67266435&COSV67266435&COSV67266435&COSV67266435&COSV67266435;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=25;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC2:D711D;CSQ_CADD_PHRED=1.345 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:142,34:176:0.19318:65:-100:0.1373:4,13,2,3,4,8,22,64,17,30,18,25:100:100 +19 45857049 . T C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=ERCC2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/22;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.1666-457A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45857049T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21999;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.713373;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC2:Q555int&ERCC2:Q555inta;CSQ_CADD_PHRED=8.162 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,60:151:0.39735:65:-100:0.1221:12,22,5,7,3,11,24,61,12,20,10,24:100:100 +19 45857049 . T C 100 PASS DP=151;CSQ_Allele=C;CSQ_SYMBOL=ERCC2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001130867.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45857049T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21999;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.713373;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-18;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.162 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,60:151:0.39735:65:-100:0.1221:12,22,5,7,3,11,24,61,12,20,10,24:100:100 +19 45861212 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=ERCC2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/22;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.1238-255G>A;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45861212C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1209000;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=317;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.010241;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.540 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,7:137:0.05109:65:-95.5091:0.1988:0,3,1,1,1,1,21,52,8,29,9,18:73.17:100 +19 45861212 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=ERCC2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001130867.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45861212C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1209000;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=317;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.010241;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=48;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.540 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,7:137:0.05109:65:-95.5091:0.1988:0,3,1,1,1,1,21,52,8,29,9,18:73.17:100 +19 45862027 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=ERCC2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=12/22;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.1238-1070A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45862027T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=73;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.00235834;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.708 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,13:145:0.08966:65:-100:0.1808:4,5,2,1,1,0,27,62,14,17,8,17:100:100 +19 45862027 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=ERCC2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001130867.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45862027T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=73;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.00235834;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.708 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,13:145:0.08966:65:-100:0.1808:4,5,2,1,1,0,27,62,14,17,8,17:100:100 +19 45867259 . C T 100 PASS DP=57;CSQ_Allele=T;CSQ_SYMBOL=ERCC2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.934G>A;CSQ_HGVSp=NP_000391.1:p.Asp312Asn;CSQ_HGVSg=19:g.45867259C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134117;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_D&Trichothiodystrophy_1&_photosensitive&Cerebrooculofacioskeletal_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=8168;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.264782;CSQ_gnomADe_AC=39642;CSQ_gnomADe_AN=136346;CSQ_gnomADe_AF=0.290746;CSQ_gnomADe_Hom=6616;CSQ_COSMICcMuts=COSV55538614&COSV55538614&COSV55538614&COSV55538614&COSV55538614;CSQ_COSMICncMuts=COSV55538614&COSV55538614&COSV55538614&COSV55538614&COSV55538614;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.128;CSQ_Mastermind_MMID3=ERCC2:D288N&ERCC2:D312N;CSQ_CADD_PHRED=23.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,11:57:0.19298:65:-100:0.4063:2,2,1,2,2,2,20,9,5,6,9,8:100:100 +19 45867259 . C T 100 PASS DP=57;CSQ_Allele=T;CSQ_SYMBOL=ERCC2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/12;CSQ_INTRON=.;CSQ_Feature=NM_001130867.2;CSQ_HGVSc=NM_001130867.2:c.862G>A;CSQ_HGVSp=NP_001124339.1:p.Asp288Asn;CSQ_HGVSg=19:g.45867259C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=134117;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_D&Trichothiodystrophy_1&_photosensitive&Cerebrooculofacioskeletal_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=8168;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.264782;CSQ_gnomADe_AC=39642;CSQ_gnomADe_AN=136346;CSQ_gnomADe_AF=0.290746;CSQ_gnomADe_Hom=6616;CSQ_COSMICcMuts=COSV55538614&COSV55538614&COSV55538614&COSV55538614&COSV55538614;CSQ_COSMICncMuts=COSV55538614&COSV55538614&COSV55538614&COSV55538614&COSV55538614;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=0.128;CSQ_Mastermind_MMID3=ERCC2:D288N&ERCC2:D312N;CSQ_CADD_PHRED=23.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,11:57:0.19298:65:-100:0.4063:2,2,1,2,2,2,20,9,5,6,9,8:100:100 +19 45868309 . T G 100 PASS DP=147;CSQ_Allele=G;CSQ_SYMBOL=ERCC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/23;CSQ_INTRON=.;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.468A>C;CSQ_HGVSp=NP_000391.1:p.Arg156%3D;CSQ_HGVSg=19:g.45868309T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256021;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_D&Trichothiodystrophy_1&_photosensitive&Cerebrooculofacioskeletal_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=19894;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.644862;CSQ_gnomADe_AC=141936;CSQ_gnomADe_AN=244916;CSQ_gnomADe_AF=0.579529;CSQ_gnomADe_Hom=42019;CSQ_COSMICcMuts=COSV55538627&COSV55538627&COSV55538627&COSV55538627&COSV55538627;CSQ_COSMICncMuts=COSV55538627&COSV55538627;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC2:R132R&ERCC2:R156R;CSQ_CADD_PHRED=11.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,76:147:0.51701:65:-100:0.1648:7,35,4,8,7,15,20,59,11,13,15,29:100:100 +19 45868309 . T G 100 PASS DP=147;CSQ_Allele=G;CSQ_SYMBOL=ERCC2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/12;CSQ_INTRON=.;CSQ_Feature=NM_001130867.2;CSQ_HGVSc=NM_001130867.2:c.396A>C;CSQ_HGVSp=NP_001124339.1:p.Arg132%3D;CSQ_HGVSg=19:g.45868309T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=256021;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Xeroderma_pigmentosum&_group_D&Trichothiodystrophy_1&_photosensitive&Cerebrooculofacioskeletal_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=19894;CSQ_gnomADg_AN=30850;CSQ_gnomADg_AF=0.644862;CSQ_gnomADe_AC=141936;CSQ_gnomADe_AN=244916;CSQ_gnomADe_AF=0.579529;CSQ_gnomADe_Hom=42019;CSQ_COSMICcMuts=COSV55538627&COSV55538627&COSV55538627&COSV55538627&COSV55538627;CSQ_COSMICncMuts=COSV55538627&COSV55538627;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC2:R132R&ERCC2:R156R;CSQ_CADD_PHRED=11.50 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,76:147:0.51701:65:-100:0.1648:7,35,4,8,7,15,20,59,11,13,15,29:100:100 +19 45871074 . T A 100 PASS DP=68;CSQ_Allele=A;CSQ_SYMBOL=ERCC2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/22;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.360+814A>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45871074T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.651 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,6:68:0.08824:65:-50.0864:0.2527:2,1,1,2,0,0,16,13,15,11,7,6:76.797:100 +19 45871074 . T A 100 PASS DP=68;CSQ_Allele=A;CSQ_SYMBOL=ERCC2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001130867.2;CSQ_HGVSc=NM_001130867.2:c.288+814A>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45871074T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.651 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,6:68:0.08824:65:-50.0864:0.2527:2,1,1,2,0,0,16,13,15,11,7,6:76.797:100 +19 45871606 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ERCC2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/22;CSQ_Feature=NM_000400.4;CSQ_HGVSc=NM_000400.4:c.360+282A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45871606T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1294042;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19841;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.642436;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC2:E120int&ERCC2:E120intd&ERCC2:E96int&ERCC2:E96intd;CSQ_CADD_PHRED=0.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,68:133:0.51128:65:-100:0.1419:20,21,12,8,3,4,32,50,16,15,9,11:100:100 +19 45871606 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=ERCC2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/11;CSQ_Feature=NM_001130867.2;CSQ_HGVSc=NM_001130867.2:c.288+282A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45871606T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1294042;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=19841;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.642436;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC2:E120int&ERCC2:E120intd&ERCC2:E96int&ERCC2:E96intd;CSQ_CADD_PHRED=0.752 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,68:133:0.51128:65:-100:0.1419:20,21,12,8,3,4,32,50,16,15,9,11:100:100 +19 45910672 . A G 100 PASS DP=137;CSQ_Allele=G;CSQ_SYMBOL=ERCC1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001983.4;CSQ_HGVSc=NM_001983.4:c.*2261T>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45910672A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9064;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.292973;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.309 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,25:137:0.18248:65:-100:0.0987:3,11,2,6,1,2,23,47,10,22,15,20:100:100 +19 45916441 . T G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=ERCC1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/9;CSQ_Feature=NM_001983.4;CSQ_HGVSc=NM_001983.4:c.843+494A>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45916441T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7914;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.255868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC1:3UTR&ERCC1:K257int&ERCC1:K257intd&ERCC1:K281int&ERCC1:K281intd;CSQ_CADD_PHRED=2.985 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,26:130:0.2:65:-100:0.1667:1,13,0,6,5,1,16,48,14,26,11,15:100:100 +19 45916441 . T G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=ERCC1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_202001.3;CSQ_HGVSc=NM_202001.3:c.*365A>C;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45916441T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7914;CSQ_gnomADg_AN=30930;CSQ_gnomADg_AF=0.255868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.985 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,26:130:0.2:65:-100:0.1667:1,13,0,6,5,1,16,48,14,26,11,15:100:100 +19 45919955 . G C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=ERCC1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/9;CSQ_Feature=NM_001983.4;CSQ_HGVSc=NM_001983.4:c.602+124C>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45919955G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1245816;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1965;CSQ_gnomADg_AN=30746;CSQ_gnomADg_AF=0.0639108;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50005117&COSV50005117&COSV50005117&COSV50005117&COSV50005117&COSV50005117;CSQ_COSMICncMuts=COSV50005117&COSV50005117&COSV50005117;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC1:S201int&ERCC1:S201intd;CSQ_CADD_PHRED=10.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,16:138:0.11594:65:-100:0.25:2,5,4,4,0,1,12,40,19,31,10,26:100:100 +19 45919955 . G C 100 PASS DP=138;CSQ_Allele=C;CSQ_SYMBOL=ERCC1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/7;CSQ_Feature=NM_202001.3;CSQ_HGVSc=NM_202001.3:c.602+124C>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45919955G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1245816;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1965;CSQ_gnomADg_AN=30746;CSQ_gnomADg_AF=0.0639108;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV50005117&COSV50005117&COSV50005117&COSV50005117&COSV50005117&COSV50005117;CSQ_COSMICncMuts=COSV50005117&COSV50005117&COSV50005117;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC1:S201int&ERCC1:S201intd;CSQ_CADD_PHRED=10.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,16:138:0.11594:65:-100:0.25:2,5,4,4,0,1,12,40,19,31,10,26:100:100 +19 45923653 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ERCC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_001983.4;CSQ_HGVSc=NM_001983.4:c.354T>C;CSQ_HGVSp=NP_001974.1:p.Asn118%3D;CSQ_HGVSg=19:g.45923653A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=225945;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16710;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.542497;CSQ_gnomADe_AC=122024;CSQ_gnomADe_AN=244514;CSQ_gnomADe_AF=0.499047;CSQ_gnomADe_Hom=34298;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC1:N118N;CSQ_CADD_PHRED=3.583 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,69:143:0.48252:65:-100:0.1227:16,17,3,15,8,10,25,44,8,32,12,22:100:100 +19 45923653 . A G 100 PASS DP=143;CSQ_Allele=G;CSQ_SYMBOL=ERCC1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/8;CSQ_INTRON=.;CSQ_Feature=NM_202001.3;CSQ_HGVSc=NM_202001.3:c.354T>C;CSQ_HGVSp=NP_973730.1:p.Asn118%3D;CSQ_HGVSg=19:g.45923653A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=225945;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=16710;CSQ_gnomADg_AN=30802;CSQ_gnomADg_AF=0.542497;CSQ_gnomADe_AC=122024;CSQ_gnomADe_AN=244514;CSQ_gnomADe_AF=0.499047;CSQ_gnomADe_Hom=34298;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=30;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC1:N118N;CSQ_CADD_PHRED=3.583 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:74,69:143:0.48252:65:-100:0.1227:16,17,3,15,8,10,25,44,8,32,12,22:100:100 +19 45925323 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=ERCC1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/9;CSQ_Feature=NM_001983.4;CSQ_HGVSc=NM_001983.4:c.106-672A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45925323T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5441;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.17645;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC1:V35int&ERCC1:V35inta;CSQ_CADD_PHRED=8.973 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,50:157:0.31847:65:-100:0.1421:9,16,3,5,6,11,22,41,19,30,14,31:100:100 +19 45925323 . T C 100 PASS DP=157;CSQ_Allele=C;CSQ_SYMBOL=ERCC1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/7;CSQ_Feature=NM_202001.3;CSQ_HGVSc=NM_202001.3:c.106-672A>G;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45925323T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5441;CSQ_gnomADg_AN=30836;CSQ_gnomADg_AF=0.17645;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERCC1:V35int&ERCC1:V35inta;CSQ_CADD_PHRED=8.973 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,50:157:0.31847:65:-100:0.1421:9,16,3,5,6,11,22,41,19,30,14,31:100:100 +19 45925377 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ERCC1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/9;CSQ_Feature=NM_001983.4;CSQ_HGVSc=NM_001983.4:c.106-726C>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45925377G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=9.71691e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.845 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,12:130:0.09231:65:-100:0.1503:1,6,1,3,0,1,17,51,15,23,8,16:100:100 +19 45925377 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ERCC1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/7;CSQ_Feature=NM_202001.3;CSQ_HGVSc=NM_202001.3:c.106-726C>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45925377G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30874;CSQ_gnomADg_AF=9.71691e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.845 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,12:130:0.09231:65:-100:0.1503:1,6,1,3,0,1,17,51,15,23,8,16:100:100 +19 45926839 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=ERCC1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/9;CSQ_Feature=NM_001983.4;CSQ_HGVSc=NM_001983.4:c.-8+200G>T;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45926839C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.519 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,8:106:0.07547:65:-100:0.3728:0,4,2,2,0,0,17,34,11,18,4,22:100:100 +19 45926839 . C A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=ERCC1;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_202001.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=19:g.45926839C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=34;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.519 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,8:106:0.07547:65:-100:0.3728:0,4,2,2,0,0,17,34,11,18,4,22:100:100 +19 50905042 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=POLD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/27;CSQ_INTRON=.;CSQ_Feature=NM_001256849.1;CSQ_HGVSc=NM_001256849.1:c.324G>A;CSQ_HGVSp=NP_001243778.1:p.Ala108%3D;CSQ_HGVSg=19:g.50905042G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=380219;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_10&Mandibular_hypoplasia-deafness-progeroid_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3941;CSQ_gnomADg_AN=30766;CSQ_gnomADg_AF=0.128096;CSQ_gnomADe_AC=26680;CSQ_gnomADe_AN=241744;CSQ_gnomADe_AF=0.110365;CSQ_gnomADe_Hom=2044;CSQ_COSMICcMuts=COSV70955193&COSV70955193&COSV70955193;CSQ_COSMICncMuts=COSV70955193&COSV70955193;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLD1:A108A;CSQ_CADD_PHRED=0.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,33:101:0.32673:65:-100:0.1513:7,7,2,5,4,8,17,29,12,14,11,18:100:100 +19 50905042 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=POLD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/27;CSQ_INTRON=.;CSQ_Feature=NM_002691.4;CSQ_HGVSc=NM_002691.4:c.324G>A;CSQ_HGVSp=NP_002682.2:p.Ala108%3D;CSQ_HGVSg=19:g.50905042G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=380219;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_10&Mandibular_hypoplasia-deafness-progeroid_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3941;CSQ_gnomADg_AN=30766;CSQ_gnomADg_AF=0.128096;CSQ_gnomADe_AC=26680;CSQ_gnomADe_AN=241744;CSQ_gnomADe_AF=0.110365;CSQ_gnomADe_Hom=2044;CSQ_COSMICcMuts=COSV70955193&COSV70955193&COSV70955193;CSQ_COSMICncMuts=COSV70955193&COSV70955193;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-7;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-41;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLD1:A108A;CSQ_CADD_PHRED=0.563 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,33:101:0.32673:65:-100:0.1513:7,7,2,5,4,8,17,29,12,14,11,18:100:100 +19 50905074 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=POLD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/27;CSQ_INTRON=.;CSQ_Feature=NM_001256849.1;CSQ_HGVSc=NM_001256849.1:c.356G>A;CSQ_HGVSp=NP_001243778.1:p.Arg119His;CSQ_HGVSg=19:g.50905074G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=380220;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_10&Mandibular_hypoplasia-deafness-progeroid_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3939;CSQ_gnomADg_AN=30804;CSQ_gnomADg_AF=0.127873;CSQ_gnomADe_AC=26852;CSQ_gnomADe_AN=244644;CSQ_gnomADe_AF=0.109759;CSQ_gnomADe_Hom=2048;CSQ_COSMICcMuts=COSV70955196&COSV70955196&COSV70955196;CSQ_COSMICncMuts=COSV70955196&COSV70955196;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.011;CSQ_Mastermind_MMID3=POLD1:R119H;CSQ_CADD_PHRED=0.006 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,35:124:0.28226:65:-100:0.1565:4,15,3,3,6,4,22,39,10,20,20,13:100:100 +19 50905074 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=POLD1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/27;CSQ_INTRON=.;CSQ_Feature=NM_002691.4;CSQ_HGVSc=NM_002691.4:c.356G>A;CSQ_HGVSp=NP_002682.2:p.Arg119His;CSQ_HGVSg=19:g.50905074G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=380220;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_10&Mandibular_hypoplasia-deafness-progeroid_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3939;CSQ_gnomADg_AN=30804;CSQ_gnomADg_AF=0.127873;CSQ_gnomADe_AC=26852;CSQ_gnomADe_AN=244644;CSQ_gnomADe_AF=0.109759;CSQ_gnomADe_Hom=2048;CSQ_COSMICcMuts=COSV70955196&COSV70955196&COSV70955196;CSQ_COSMICncMuts=COSV70955196&COSV70955196;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.011;CSQ_Mastermind_MMID3=POLD1:R119H;CSQ_CADD_PHRED=0.006 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,35:124:0.28226:65:-100:0.1565:4,15,3,3,6,4,22,39,10,20,20,13:100:100 +19 50909765 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=POLD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/27;CSQ_INTRON=.;CSQ_Feature=NM_001256849.1;CSQ_HGVSc=NM_001256849.1:c.1485C>T;CSQ_HGVSp=NP_001243778.1:p.Thr495%3D;CSQ_HGVSg=19:g.50909765C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=258787;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_10&Mandibular_hypoplasia-deafness-progeroid_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3079;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.0997408;CSQ_gnomADe_AC=20183;CSQ_gnomADe_AN=192286;CSQ_gnomADe_AF=0.104963;CSQ_gnomADe_Hom=1331;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLD1:T495T;CSQ_CADD_PHRED=8.721 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,23:159:0.14465:65:-100:0.1587:6,8,2,3,3,1,25,61,10,25,12,26:100:100 +19 50909765 . C T 100 PASS DP=159;CSQ_Allele=T;CSQ_SYMBOL=POLD1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/27;CSQ_INTRON=.;CSQ_Feature=NM_002691.4;CSQ_HGVSc=NM_002691.4:c.1485C>T;CSQ_HGVSp=NP_002682.2:p.Thr495%3D;CSQ_HGVSg=19:g.50909765C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=258787;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_10&Mandibular_hypoplasia-deafness-progeroid_syndrome&Hereditary_cancer-predisposing_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=3079;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.0997408;CSQ_gnomADe_AC=20183;CSQ_gnomADe_AN=192286;CSQ_gnomADe_AF=0.104963;CSQ_gnomADe_Hom=1331;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLD1:T495T;CSQ_CADD_PHRED=8.721 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,23:159:0.14465:65:-100:0.1587:6,8,2,3,3,1,25,61,10,25,12,26:100:100 +19 50919865 . AG A 100 PASS DP=99;CSQ_Allele=-;CSQ_SYMBOL=POLD1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001256849.1;CSQ_HGVSc=NM_001256849.1:c.2959del;CSQ_HGVSp=NP_001243778.1:p.Asp987ThrfsTer58;CSQ_HGVSg=19:g.50919872del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=935838;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_10;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=9;CSQ_gnomADe_AN=157318;CSQ_gnomADe_AF=5.7209e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426;CSQ_COSMICncMuts=COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=1.00;CSQ_SpliceAI_pred_DS_AL=1.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,7:99:0.07071:65:-98.5248:0:1,2,0,3,0,1,10,35,5,19,4,26:70.891:100 +19 50919865 . AG A 100 PASS DP=99;CSQ_Allele=-;CSQ_SYMBOL=POLD1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_002691.4;CSQ_HGVSc=NM_002691.4:c.2959del;CSQ_HGVSp=NP_002682.2:p.Asp987ThrfsTer58;CSQ_HGVSg=19:g.50919872del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=935838;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colorectal_cancer&_susceptibility_to&_10;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=9;CSQ_gnomADe_AN=157318;CSQ_gnomADe_AF=5.7209e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426;CSQ_COSMICncMuts=COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426&COSV54529426;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=1.00;CSQ_SpliceAI_pred_DS_AL=1.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,7:99:0.07071:65:-98.5248:0:1,2,0,3,0,1,10,35,5,19,4,26:70.891:100 +20 9520142 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=PAK5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/11;CSQ_INTRON=.;CSQ_Feature=NM_020341.5;CSQ_HGVSc=NM_020341.5:c.2127C>T;CSQ_HGVSp=NP_065074.1:p.Ile709%3D;CSQ_HGVSg=20:g.9520142G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3620;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.117046;CSQ_gnomADe_AC=25977;CSQ_gnomADe_AN=246196;CSQ_gnomADe_AF=0.105513;CSQ_gnomADe_Hom=2017;CSQ_COSMICcMuts=COSV62022294&COSV62022294&COSV62022294;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK5:I709I;CSQ_CADD_PHRED=9.294 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,9:142:0.06338:65:-100:0.1341:2,1,2,2,1,1,16,49,15,31,10,21:94.532:100 +20 9520142 . G A 100 PASS DP=142;CSQ_Allele=A;CSQ_SYMBOL=PAK5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_177990.4;CSQ_HGVSc=NM_177990.4:c.2127C>T;CSQ_HGVSp=NP_817127.1:p.Ile709%3D;CSQ_HGVSg=20:g.9520142G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3620;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.117046;CSQ_gnomADe_AC=25977;CSQ_gnomADe_AN=246196;CSQ_gnomADe_AF=0.105513;CSQ_gnomADe_Hom=2017;CSQ_COSMICcMuts=COSV62022294&COSV62022294&COSV62022294;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PAK5:I709I;CSQ_CADD_PHRED=9.294 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,9:142:0.06338:65:-100:0.1341:2,1,2,2,1,1,16,49,15,31,10,21:94.532:100 +20 9543622 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=PAK5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/11;CSQ_INTRON=.;CSQ_Feature=NM_020341.5;CSQ_HGVSc=NM_020341.5:c.1532G>A;CSQ_HGVSp=NP_065074.1:p.Ser511Asn;CSQ_HGVSg=20:g.9543622C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14086;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.45574;CSQ_gnomADe_AC=90972;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.369775;CSQ_gnomADe_Hom=19401;CSQ_COSMICcMuts=COSV62027637&COSV62027637&COSV62027637;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.130;CSQ_Mastermind_MMID3=PAK5:S511N;CSQ_CADD_PHRED=20.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,120:181:0.66298:65:-100:0.1581:19,30,14,29,7,21,25,56,18,37,10,35:100:100 +20 9543622 . C T 100 PASS DP=181;CSQ_Allele=T;CSQ_SYMBOL=PAK5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/10;CSQ_INTRON=.;CSQ_Feature=NM_177990.4;CSQ_HGVSc=NM_177990.4:c.1532G>A;CSQ_HGVSp=NP_817127.1:p.Ser511Asn;CSQ_HGVSg=20:g.9543622C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14086;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.45574;CSQ_gnomADe_AC=90972;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.369775;CSQ_gnomADe_Hom=19401;CSQ_COSMICcMuts=COSV62027637&COSV62027637&COSV62027637;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=0.130;CSQ_Mastermind_MMID3=PAK5:S511N;CSQ_CADD_PHRED=20.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,120:181:0.66298:65:-100:0.1581:19,30,14,29,7,21,25,56,18,37,10,35:100:100 +20 9546626 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=PAK5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_020341.5;CSQ_HGVSc=NM_020341.5:c.1396G>A;CSQ_HGVSp=NP_065074.1:p.Ala466Thr;CSQ_HGVSg=20:g.9546626C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=243840;CSQ_gnomADe_AF=4.10105e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62022115&COSV62022115&COSV62022115;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.801;CSQ_Mastermind_MMID3=PAK5:A466T;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,22:157:0.14013:65:-100:0.1514:5,5,1,7,1,3,25,56,19,26,3,28:100:100 +20 9546626 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=PAK5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_177990.4;CSQ_HGVSc=NM_177990.4:c.1396G>A;CSQ_HGVSp=NP_817127.1:p.Ala466Thr;CSQ_HGVSg=20:g.9546626C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=243840;CSQ_gnomADe_AF=4.10105e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV62022115&COSV62022115&COSV62022115;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=23;CSQ_SpliceAI_pred_DP_DG=10;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=0.801;CSQ_Mastermind_MMID3=PAK5:A466T;CSQ_CADD_PHRED=28.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,22:157:0.14013:65:-100:0.1514:5,5,1,7,1,3,25,56,19,26,3,28:100:100 +20 9547018 . C G 100 PASS DP=111;CSQ_Allele=G;CSQ_SYMBOL=PAK5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/11;CSQ_INTRON=.;CSQ_Feature=NM_020341.5;CSQ_HGVSc=NM_020341.5:c.1004G>C;CSQ_HGVSp=NP_065074.1:p.Arg335Pro;CSQ_HGVSg=20:g.9547018C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2606;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.0845171;CSQ_gnomADe_AC=30247;CSQ_gnomADe_AN=245042;CSQ_gnomADe_AF=0.123436;CSQ_gnomADe_Hom=2703;CSQ_COSMICcMuts=COSV62021705&COSV62021705&COSV62021705;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.133;CSQ_Mastermind_MMID3=PAK5:R335P;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,22:111:0.1982:65:-100:0.119:5,7,1,3,1,5,18,35,12,21,9,16:100:100 +20 9547018 . C G 100 PASS DP=111;CSQ_Allele=G;CSQ_SYMBOL=PAK5;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/10;CSQ_INTRON=.;CSQ_Feature=NM_177990.4;CSQ_HGVSc=NM_177990.4:c.1004G>C;CSQ_HGVSp=NP_817127.1:p.Arg335Pro;CSQ_HGVSg=20:g.9547018C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2606;CSQ_gnomADg_AN=30834;CSQ_gnomADg_AF=0.0845171;CSQ_gnomADe_AC=30247;CSQ_gnomADe_AN=245042;CSQ_gnomADe_AF=0.123436;CSQ_gnomADe_Hom=2703;CSQ_COSMICcMuts=COSV62021705&COSV62021705&COSV62021705;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.133;CSQ_Mastermind_MMID3=PAK5:R335P;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,22:111:0.1982:65:-100:0.119:5,7,1,3,1,5,18,35,12,21,9,16:100:100 +20 9561134 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=PAK5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/11;CSQ_INTRON=.;CSQ_Feature=NM_020341.5;CSQ_HGVSc=NM_020341.5:c.648G>A;CSQ_HGVSp=NP_065074.1:p.Lys216%3D;CSQ_HGVSg=20:g.9561134C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=769077;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=944;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0305048;CSQ_gnomADe_AC=1875;CSQ_gnomADe_AN=246122;CSQ_gnomADe_AF=0.00761817;CSQ_gnomADe_Hom=94;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,12:149:0.08054:65:-100:0.1486:0,5,1,2,1,3,31,55,9,24,9,21:100:100 +20 9561134 . C T 100 PASS DP=149;CSQ_Allele=T;CSQ_SYMBOL=PAK5;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_177990.4;CSQ_HGVSc=NM_177990.4:c.648G>A;CSQ_HGVSp=NP_817127.1:p.Lys216%3D;CSQ_HGVSg=20:g.9561134C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=769077;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=944;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0305048;CSQ_gnomADe_AC=1875;CSQ_gnomADe_AN=246122;CSQ_gnomADe_AF=0.00761817;CSQ_gnomADe_Hom=94;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,12:149:0.08054:65:-100:0.1486:0,5,1,2,1,3,31,55,9,24,9,21:100:100 +20 30263528 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=BCL2L1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001191.4;CSQ_HGVSc=NM_001191.4:c.376-9639C>T;CSQ_HGVSp=.;CSQ_HGVSg=20:g.30263528G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2187;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0706989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.583 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,25:148:0.16892:65:-100:0.1445:3,11,3,3,1,4,26,48,17,26,9,22:100:100 +20 30263528 . G A 100 PASS DP=148;CSQ_Allele=A;CSQ_SYMBOL=BCL2L1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_138578.3;CSQ_HGVSc=NM_138578.3:c.565-9639C>T;CSQ_HGVSp=.;CSQ_HGVSg=20:g.30263528G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2187;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.0706989;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.583 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,25:148:0.16892:65:-100:0.1445:3,11,3,3,1,4,26,48,17,26,9,22:100:100 +20 30282015 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=BCL2L1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_001191.4;CSQ_HGVSc=NM_001191.4:c.375+27632C>T;CSQ_HGVSp=.;CSQ_HGVSg=20:g.30282015G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=737;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0238141;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,7:125:0.056:65:-97.0235:0.1667:0,2,3,0,1,1,18,47,15,18,16,11:96.496:100 +20 30282015 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=BCL2L1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/2;CSQ_Feature=NM_138578.3;CSQ_HGVSc=NM_138578.3:c.564+27443C>T;CSQ_HGVSp=.;CSQ_HGVSg=20:g.30282015G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=737;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0238141;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,7:125:0.056:65:-97.0235:0.1667:0,2,3,0,1,1,18,47,15,18,16,11:96.496:100 +20 31021558 . C T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=ASXL1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/13;CSQ_INTRON=.;CSQ_Feature=NM_015338.6;CSQ_HGVSc=NM_015338.6:c.1557C>T;CSQ_HGVSp=NP_056153.2:p.Pro519%3D;CSQ_HGVSg=20:g.31021558C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7;CSQ_gnomADg_AN=30982;CSQ_gnomADg_AF=0.000225938;CSQ_gnomADe_AC=35;CSQ_gnomADe_AN=246228;CSQ_gnomADe_AF=0.000142145;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ASXL1:P458P&ASXL1:P519P;CSQ_CADD_PHRED=10.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:127,7:134:0.05224:65:-95.3941:0.1779:1,4,1,0,0,1,21,44,12,26,10,21:79.154:100 +20 31022959 . T C 100 PASS DP=182;CSQ_Allele=C;CSQ_SYMBOL=ASXL1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_015338.6;CSQ_HGVSc=NM_015338.6:c.2444T>C;CSQ_HGVSp=NP_056153.2:p.Pro815%3D;CSQ_HGVSg=20:g.31022959T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133599;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=30966;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=244188;CSQ_gnomADe_AN=244190;CSQ_gnomADe_AF=0.999992;CSQ_gnomADe_Hom=122093;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.131 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,182:182:1:65:-100:0.1651:26,67,9,34,9,37,26,67,9,34,9,37:100:100 +20 31024260 . A G 100 PASS DP=207;CSQ_Allele=G;CSQ_SYMBOL=ASXL1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_015338.6;CSQ_HGVSc=NM_015338.6:c.3745A>G;CSQ_HGVSp=NP_056153.2:p.Met1249Val;CSQ_HGVSg=20:g.31024260A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=133580;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bohring-Opitz_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=84;CSQ_gnomADg_AN=30980;CSQ_gnomADg_AF=0.00271143;CSQ_gnomADe_AC=560;CSQ_gnomADe_AN=245966;CSQ_gnomADe_AF=0.00227674;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=COSV60106533&COSV60106533;CSQ_COSMICncMuts=COSV60106533&COSV60106533;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=12;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=0.003;CSQ_Mastermind_MMID3=ASXL1:M1188V&ASXL1:M1249V;CSQ_CADD_PHRED=0.001 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:198,9:207:0.04348:65:-45.3152:0.1229:0,5,0,0,0,4,28,75,25,30,13,36:100:100 +20 31024274 . T C 100 PASS DP=213;CSQ_Allele=C;CSQ_SYMBOL=ASXL1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_015338.6;CSQ_HGVSc=NM_015338.6:c.3759T>C;CSQ_HGVSp=NP_056153.2:p.Ser1253%3D;CSQ_HGVSg=20:g.31024274T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=338113;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Bohring-Opitz_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=11417;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.369506;CSQ_gnomADe_AC=104345;CSQ_gnomADe_AN=245930;CSQ_gnomADe_AF=0.424287;CSQ_gnomADe_Hom=23890;CSQ_COSMICcMuts=COSV60102318&COSV60102318;CSQ_COSMICncMuts=COSV60102318&COSV60102318;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ASXL1:S1192S&ASXL1:S1253S;CSQ_CADD_PHRED=5.599 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,163:213:0.76526:65:-100:0.1088:24,55,18,26,11,29,34,72,26,32,12,37:100:100 +20 31380508 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/18;CSQ_INTRON=.;CSQ_Feature=NM_001207056.2;CSQ_HGVSc=NM_001207056.2:c.770T>C;CSQ_HGVSp=NP_001193985.1:p.Leu257Ser;CSQ_HGVSg=20:g.31380508T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.590;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=29.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,16:156:0.10256:65:-100:0.1522:1,6,0,5,0,4,20,58,12,30,12,24:100:100 +20 31380508 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/23;CSQ_INTRON=.;CSQ_Feature=NM_006892.4;CSQ_HGVSc=NM_006892.4:c.998T>C;CSQ_HGVSp=NP_008823.1:p.Leu333Ser;CSQ_HGVSg=20:g.31380508T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.590;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=29.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,16:156:0.10256:65:-100:0.1522:1,6,0,5,0,4,20,58,12,30,12,24:100:100 +20 31380508 . T C 100 PASS DP=156;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/22;CSQ_INTRON=.;CSQ_Feature=NM_175850.3;CSQ_HGVSc=NM_175850.3:c.1034T>C;CSQ_HGVSp=NP_787046.1:p.Leu345Ser;CSQ_HGVSg=20:g.31380508T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354&COSV52415354;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.590;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=29.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:140,16:156:0.10256:65:-100:0.1522:1,6,0,5,0,4,20,58,12,30,12,24:100:100 +20 31383243 . C T 100 PASS DP=168;CSQ_Allele=T;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=8/18;CSQ_INTRON=.;CSQ_Feature=NM_001207056.2;CSQ_HGVSc=NM_001207056.2:c.867C>T;CSQ_HGVSp=NP_001193985.1:p.Asp289%3D;CSQ_HGVSg=20:g.31383243C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=734567;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency¬_provided;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=6.46078e-05;CSQ_gnomADe_AC=10;CSQ_gnomADe_AN=246208;CSQ_gnomADe_AF=4.06161e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,18:168:0.10714:65:-100:0.1558:4,5,0,6,2,1,34,56,12,37,10,19:100:100 +20 31383243 . C T 100 PASS DP=168;CSQ_Allele=T;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/23;CSQ_INTRON=.;CSQ_Feature=NM_006892.4;CSQ_HGVSc=NM_006892.4:c.1155C>T;CSQ_HGVSp=NP_008823.1:p.Asp385%3D;CSQ_HGVSg=20:g.31383243C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=734567;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency¬_provided;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=6.46078e-05;CSQ_gnomADe_AC=10;CSQ_gnomADe_AN=246208;CSQ_gnomADe_AF=4.06161e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,18:168:0.10714:65:-100:0.1558:4,5,0,6,2,1,34,56,12,37,10,19:100:100 +20 31383243 . C T 100 PASS DP=168;CSQ_Allele=T;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/22;CSQ_INTRON=.;CSQ_Feature=NM_175850.3;CSQ_HGVSc=NM_175850.3:c.1131C>T;CSQ_HGVSp=NP_787046.1:p.Asp377%3D;CSQ_HGVSg=20:g.31383243C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=734567;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency¬_provided;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=6.46078e-05;CSQ_gnomADe_AC=10;CSQ_gnomADe_AN=246208;CSQ_gnomADe_AF=4.06161e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365&COSV52415365;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-46;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.171 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:150,18:168:0.10714:65:-100:0.1558:4,5,0,6,2,1,34,56,12,37,10,19:100:100 +20 31384657 . G C 100 PASS DP=158;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/18;CSQ_INTRON=.;CSQ_Feature=NM_001207056.2;CSQ_HGVSc=NM_001207056.2:c.1071G>C;CSQ_HGVSp=NP_001193985.1:p.Gly357%3D;CSQ_HGVSg=20:g.31384657G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=740164;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency;CSQ_gnomADg_AC=15;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.000485186;CSQ_gnomADe_AC=39;CSQ_gnomADe_AN=246268;CSQ_gnomADe_AF=0.000158364;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.278 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,28:158:0.17722:65:-100:0.1459:7,9,1,4,2,5,32,55,18,24,12,17:100:100 +20 31384657 . G C 100 PASS DP=158;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/23;CSQ_INTRON=.;CSQ_Feature=NM_006892.4;CSQ_HGVSc=NM_006892.4:c.1359G>C;CSQ_HGVSp=NP_008823.1:p.Gly453%3D;CSQ_HGVSg=20:g.31384657G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=740164;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency;CSQ_gnomADg_AC=15;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.000485186;CSQ_gnomADe_AC=39;CSQ_gnomADe_AN=246268;CSQ_gnomADe_AF=0.000158364;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.278 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,28:158:0.17722:65:-100:0.1459:7,9,1,4,2,5,32,55,18,24,12,17:100:100 +20 31384657 . G C 100 PASS DP=158;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/22;CSQ_INTRON=.;CSQ_Feature=NM_175850.3;CSQ_HGVSc=NM_175850.3:c.1335G>C;CSQ_HGVSp=NP_787046.1:p.Gly445%3D;CSQ_HGVSg=20:g.31384657G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=740164;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency;CSQ_gnomADg_AC=15;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.000485186;CSQ_gnomADe_AC=39;CSQ_gnomADe_AN=246268;CSQ_gnomADe_AF=0.000158364;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-39;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.278 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,28:158:0.17722:65:-100:0.1459:7,9,1,4,2,5,32,55,18,24,12,17:100:100 +20 31386347 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/18;CSQ_INTRON=.;CSQ_Feature=NM_001207056.2;CSQ_HGVSc=NM_001207056.2:c.1284T>C;CSQ_HGVSp=NP_001193985.1:p.Cys428%3D;CSQ_HGVSg=20:g.31386347T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=338170;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency&Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=18412;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.596205;CSQ_gnomADe_AC=142378;CSQ_gnomADe_AN=245430;CSQ_gnomADe_AF=0.580117;CSQ_gnomADe_Hom=45651;CSQ_COSMICcMuts=COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3B:C428C&DNMT3B:C462C&DNMT3B:C504C&DNMT3B:C516C&DNMT3B:C524C;CSQ_CADD_PHRED=13.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,126:146:0.86301:65:-100:0.1751:17,34,8,29,11,27,21,40,8,32,13,32:100:100 +20 31386347 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NM_006892.4;CSQ_HGVSc=NM_006892.4:c.1572T>C;CSQ_HGVSp=NP_008823.1:p.Cys524%3D;CSQ_HGVSg=20:g.31386347T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=338170;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency&Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=18412;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.596205;CSQ_gnomADe_AC=142378;CSQ_gnomADe_AN=245430;CSQ_gnomADe_AF=0.580117;CSQ_gnomADe_Hom=45651;CSQ_COSMICcMuts=COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3B:C428C&DNMT3B:C462C&DNMT3B:C504C&DNMT3B:C516C&DNMT3B:C524C;CSQ_CADD_PHRED=13.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,126:146:0.86301:65:-100:0.1751:17,34,8,29,11,27,21,40,8,32,13,32:100:100 +20 31386347 . T C 100 PASS DP=146;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/22;CSQ_INTRON=.;CSQ_Feature=NM_175850.3;CSQ_HGVSc=NM_175850.3:c.1548T>C;CSQ_HGVSp=NP_787046.1:p.Cys516%3D;CSQ_HGVSg=20:g.31386347T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=338170;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency&Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=18412;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.596205;CSQ_gnomADe_AC=142378;CSQ_gnomADe_AN=245430;CSQ_gnomADe_AF=0.580117;CSQ_gnomADe_Hom=45651;CSQ_COSMICcMuts=COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449&COSV52421449;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3B:C428C&DNMT3B:C462C&DNMT3B:C504C&DNMT3B:C516C&DNMT3B:C524C;CSQ_CADD_PHRED=13.58 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,126:146:0.86301:65:-100:0.1751:17,34,8,29,11,27,21,40,8,32,13,32:100:100 +20 31386449 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/18;CSQ_INTRON=.;CSQ_Feature=NM_001207056.2;CSQ_HGVSc=NM_001207056.2:c.1386T>C;CSQ_HGVSp=NP_001193985.1:p.Tyr462%3D;CSQ_HGVSg=20:g.31386449T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=338171;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency&Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=18409;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.595838;CSQ_gnomADe_AC=138319;CSQ_gnomADe_AN=237260;CSQ_gnomADe_AF=0.582985;CSQ_gnomADe_Hom=44566;CSQ_COSMICcMuts=COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3B:Y462Y&DNMT3B:Y462srd&DNMT3B:Y496Y&DNMT3B:Y496srd&DNMT3B:Y538Y&DNMT3B:Y538srd&DNMT3B:Y550Y&DNMT3B:Y550srd&DNMT3B:Y558Y&DNMT3B:Y558srd;CSQ_CADD_PHRED=1.447 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,144:153:0.94118:65:-100:0.0947:27,37,17,22,12,29,28,41,18,23,13,30:100:100 +20 31386449 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NM_006892.4;CSQ_HGVSc=NM_006892.4:c.1674T>C;CSQ_HGVSp=NP_008823.1:p.Tyr558%3D;CSQ_HGVSg=20:g.31386449T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=338171;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency&Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=18409;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.595838;CSQ_gnomADe_AC=138319;CSQ_gnomADe_AN=237260;CSQ_gnomADe_AF=0.582985;CSQ_gnomADe_Hom=44566;CSQ_COSMICcMuts=COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3B:Y462Y&DNMT3B:Y462srd&DNMT3B:Y496Y&DNMT3B:Y496srd&DNMT3B:Y538Y&DNMT3B:Y538srd&DNMT3B:Y550Y&DNMT3B:Y550srd&DNMT3B:Y558Y&DNMT3B:Y558srd;CSQ_CADD_PHRED=1.447 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,144:153:0.94118:65:-100:0.0947:27,37,17,22,12,29,28,41,18,23,13,30:100:100 +20 31386449 . T C 100 PASS DP=153;CSQ_Allele=C;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=splice_region_variant&synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/22;CSQ_INTRON=.;CSQ_Feature=NM_175850.3;CSQ_HGVSc=NM_175850.3:c.1650T>C;CSQ_HGVSp=NP_787046.1:p.Tyr550%3D;CSQ_HGVSg=20:g.31386449T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=338171;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency&Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1¬_specified¬_provided;CSQ_gnomADg_AC=18409;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.595838;CSQ_gnomADe_AC=138319;CSQ_gnomADe_AN=237260;CSQ_gnomADe_AF=0.582985;CSQ_gnomADe_Hom=44566;CSQ_COSMICcMuts=COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716&COSV52414716;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=-4;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=DNMT3B:Y462Y&DNMT3B:Y462srd&DNMT3B:Y496Y&DNMT3B:Y496srd&DNMT3B:Y538Y&DNMT3B:Y538srd&DNMT3B:Y550Y&DNMT3B:Y550srd&DNMT3B:Y558Y&DNMT3B:Y558srd;CSQ_CADD_PHRED=1.447 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,144:153:0.94118:65:-100:0.0947:27,37,17,22,12,29,28,41,18,23,13,30:100:100 +20 31388045 . G A 100 PASS DP=176;CSQ_Allele=A;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/18;CSQ_INTRON=.;CSQ_Feature=NM_001207056.2;CSQ_HGVSc=NM_001207056.2:c.1558G>A;CSQ_HGVSp=NP_001193985.1:p.Val520Met;CSQ_HGVSg=20:g.31388045G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=578788;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246272;CSQ_gnomADe_AF=4.06055e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.491;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,40:176:0.22727:65:-100:0.1456:8,12,3,8,4,5,28,64,9,33,16,26:100:100 +20 31388045 . G A 100 PASS DP=176;CSQ_Allele=A;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=17/23;CSQ_INTRON=.;CSQ_Feature=NM_006892.4;CSQ_HGVSc=NM_006892.4:c.1846G>A;CSQ_HGVSp=NP_008823.1:p.Val616Met;CSQ_HGVSg=20:g.31388045G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=578788;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246272;CSQ_gnomADe_AF=4.06055e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.491;CSQ_Mastermind_MMID3=DNMT3B:V608M&DNMT3B:V616M;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,40:176:0.22727:65:-100:0.1456:8,12,3,8,4,5,28,64,9,33,16,26:100:100 +20 31388045 . G A 100 PASS DP=176;CSQ_Allele=A;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/22;CSQ_INTRON=.;CSQ_Feature=NM_175850.3;CSQ_HGVSc=NM_175850.3:c.1822G>A;CSQ_HGVSp=NP_787046.1:p.Val608Met;CSQ_HGVSg=20:g.31388045G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=578788;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Centromeric_instability_of_chromosomes_1&9_and_16_and_immunodeficiency;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246272;CSQ_gnomADe_AF=4.06055e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403&COSV52415403;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=0.491;CSQ_Mastermind_MMID3=DNMT3B:V608M&DNMT3B:V616M;CSQ_CADD_PHRED=22.6 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:136,40:176:0.22727:65:-100:0.1456:8,12,3,8,4,5,28,64,9,33,16,26:100:100 +20 31393184 . G A 100 PASS DP=185;CSQ_Allele=A;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=17/17;CSQ_Feature=NM_001207056.2;CSQ_HGVSc=NM_001207056.2:c.1944-2384G>A;CSQ_HGVSp=.;CSQ_HGVSg=20:g.31393184G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=8.12222e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173;CSQ_COSMICncMuts=COSV52422173;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.07;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,14:185:0.07568:65:-100:0.1148:4,3,3,2,1,1,37,60,19,22,14,33:100:100 +20 31393184 . G A 100 PASS DP=185;CSQ_Allele=A;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/23;CSQ_INTRON=.;CSQ_Feature=NM_006892.4;CSQ_HGVSc=NM_006892.4:c.2272G>A;CSQ_HGVSp=NP_008823.1:p.Asp758Asn;CSQ_HGVSg=20:g.31393184G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=8.12222e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173;CSQ_COSMICncMuts=COSV52422173;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.07;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.640;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,14:185:0.07568:65:-100:0.1148:4,3,3,2,1,1,37,60,19,22,14,33:100:100 +20 31393184 . G A 100 PASS DP=185;CSQ_Allele=A;CSQ_SYMBOL=DNMT3B;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=20/22;CSQ_INTRON=.;CSQ_Feature=NM_175850.3;CSQ_HGVSc=NM_175850.3:c.2248G>A;CSQ_HGVSp=NP_787046.1:p.Asp750Asn;CSQ_HGVSg=20:g.31393184G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=246238;CSQ_gnomADe_AF=8.12222e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173&COSV52422173;CSQ_COSMICncMuts=COSV52422173;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.07;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.640;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:171,14:185:0.07568:65:-100:0.1148:4,3,3,2,1,1,37,60,19,22,14,33:100:100 +20 36030939 . G C 100 PASS DP=166;CSQ_Allele=C;CSQ_SYMBOL=SRC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/14;CSQ_INTRON=.;CSQ_Feature=NM_005417.5;CSQ_HGVSc=NM_005417.5:c.1218G>C;CSQ_HGVSp=NP_005408.1:p.Ala406%3D;CSQ_HGVSg=20:g.36030939G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30920;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=245818;CSQ_gnomADe_AN=245822;CSQ_gnomADe_AF=0.999984;CSQ_gnomADe_Hom=122907;CSQ_COSMICcMuts=COSV62440282&COSV62440282&COSV62440282&COSV62440282&COSV62440282&COSV62440282;CSQ_COSMICncMuts=COSV62440282&COSV62440282&COSV62440282;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SRC:A406A;CSQ_CADD_PHRED=3.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,166:166:1:65:-100:0.2019:39,50,11,29,11,26,39,50,11,29,11,26:100:100 +20 36030939 . G C 100 PASS DP=166;CSQ_Allele=C;CSQ_SYMBOL=SRC;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/14;CSQ_INTRON=.;CSQ_Feature=NM_198291.3;CSQ_HGVSc=NM_198291.3:c.1218G>C;CSQ_HGVSp=NP_938033.1:p.Ala406%3D;CSQ_HGVSg=20:g.36030939G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30920;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=245818;CSQ_gnomADe_AN=245822;CSQ_gnomADe_AF=0.999984;CSQ_gnomADe_Hom=122907;CSQ_COSMICcMuts=COSV62440282&COSV62440282&COSV62440282&COSV62440282&COSV62440282&COSV62440282;CSQ_COSMICncMuts=COSV62440282&COSV62440282&COSV62440282;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SRC:A406A;CSQ_CADD_PHRED=3.215 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,166:166:1:65:-100:0.2019:39,50,11,29,11,26,39,50,11,29,11,26:100:100 +20 36031758 . G C 100 PASS DP=165;CSQ_Allele=C;CSQ_SYMBOL=SRC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005417.5;CSQ_HGVSc=NM_005417.5:c.1587G>C;CSQ_HGVSp=NP_005408.1:p.Gln529His;CSQ_HGVSg=20:g.36031758G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.202;CSQ_Mastermind_MMID3=SRC:Q529H;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,8:165:0.04848:65:-95.6257:0.1667:2,2,0,2,0,2,29,50,15,32,14,25:87.34:100 +20 36031758 . G C 100 PASS DP=165;CSQ_Allele=C;CSQ_SYMBOL=SRC;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_198291.3;CSQ_HGVSc=NM_198291.3:c.1587G>C;CSQ_HGVSp=NP_938033.1:p.Gln529His;CSQ_HGVSg=20:g.36031758G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-49;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.202;CSQ_Mastermind_MMID3=SRC:Q529H;CSQ_CADD_PHRED=24.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:157,8:165:0.04848:65:-95.6257:0.1667:2,2,0,2,0,2,29,50,15,32,14,25:87.34:100 +20 39728767 . G A 100 PASS DP=139;CSQ_Allele=A;CSQ_SYMBOL=TOP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/21;CSQ_INTRON=.;CSQ_Feature=NM_003286.4;CSQ_HGVSc=NM_003286.4:c.1047G>A;CSQ_HGVSp=NP_003277.1:p.Arg349%3D;CSQ_HGVSg=20:g.39728767G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=783862;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=218;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.00703907;CSQ_gnomADe_AC=496;CSQ_gnomADe_AN=245964;CSQ_gnomADe_AF=0.00201656;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV100794041;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TOP1:R349R;CSQ_CADD_PHRED=12.09 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,28:139:0.20144:65:-100:0.1627:5,11,0,10,0,2,23,57,5,27,5,22:100:100 +20 39751901 . G T 100 PASS DP=144;CSQ_Allele=T;CSQ_SYMBOL=TOP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/21;CSQ_INTRON=.;CSQ_Feature=NM_003286.4;CSQ_HGVSc=NM_003286.4:c.2262G>T;CSQ_HGVSp=NP_003277.1:p.Trp754Cys;CSQ_HGVSg=20:g.39751901G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=29;CSQ_REVEL=0.752;CSQ_Mastermind_MMID3=TOP1:W754C;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,9:144:0.0625:65:-100:0.122:3,3,0,0,1,2,22,44,8,23,10,37:100:100 +20 40714479 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=PTPRT;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=28/31;CSQ_INTRON=.;CSQ_Feature=NM_007050.6;CSQ_HGVSc=NM_007050.6:c.3861C>T;CSQ_HGVSp=NP_008981.4:p.Tyr1287%3D;CSQ_HGVSg=20:g.40714479G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5946;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.192228;CSQ_gnomADe_AC=48401;CSQ_gnomADe_AN=245868;CSQ_gnomADe_AF=0.196858;CSQ_gnomADe_Hom=5237;CSQ_COSMICcMuts=COSV61981694&COSV61981694&COSV61981694&COSV61981694&COSV61981694&COSV61981694&COSV61981694;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRT:Y1287Y&PTPRT:Y1306Y;CSQ_CADD_PHRED=9.933 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,17:155:0.10968:65:-100:0.1576:6,3,1,4,3,0,33,42,13,28,17,22:100:100 +20 40714479 . G A 100 PASS DP=155;CSQ_Allele=A;CSQ_SYMBOL=PTPRT;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=29/32;CSQ_INTRON=.;CSQ_Feature=NM_133170.4;CSQ_HGVSc=NM_133170.4:c.3918C>T;CSQ_HGVSp=NP_573400.3:p.Tyr1306%3D;CSQ_HGVSg=20:g.40714479G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5946;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.192228;CSQ_gnomADe_AC=48401;CSQ_gnomADe_AN=245868;CSQ_gnomADe_AF=0.196858;CSQ_gnomADe_Hom=5237;CSQ_COSMICcMuts=COSV61981694&COSV61981694&COSV61981694&COSV61981694&COSV61981694&COSV61981694&COSV61981694;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRT:Y1287Y&PTPRT:Y1306Y;CSQ_CADD_PHRED=9.933 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,17:155:0.10968:65:-100:0.1576:6,3,1,4,3,0,33,42,13,28,17,22:100:100 +20 40735430 . G C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=PTPRT;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/31;CSQ_INTRON=.;CSQ_Feature=NM_007050.6;CSQ_HGVSc=NM_007050.6:c.3386C>G;CSQ_HGVSp=NP_008981.4:p.Thr1129Arg;CSQ_HGVSg=20:g.40735430G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.000129157;CSQ_gnomADe_AC=38;CSQ_gnomADe_AN=245700;CSQ_gnomADe_AF=0.00015466;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61973082&COSV61973082&COSV61973082&COSV61973082&COSV61973082&COSV61973082&COSV61973082;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.711;CSQ_Mastermind_MMID3=PTPRT:T1129R;CSQ_CADD_PHRED=27.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,5:112:0.04464:65:-48.7675:0.1385:1,4,0,0,0,0,23,46,10,14,6,13:64.476:100 +20 40735430 . G C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=PTPRT;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=25/32;CSQ_INTRON=.;CSQ_Feature=NM_133170.4;CSQ_HGVSc=NM_133170.4:c.3443C>G;CSQ_HGVSp=NP_573400.3:p.Thr1148Arg;CSQ_HGVSg=20:g.40735430G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.000129157;CSQ_gnomADe_AC=38;CSQ_gnomADe_AN=245700;CSQ_gnomADe_AF=0.00015466;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61973082&COSV61973082&COSV61973082&COSV61973082&COSV61973082&COSV61973082&COSV61973082;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=41;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.711;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=27.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,5:112:0.04464:65:-48.7675:0.1385:1,4,0,0,0,0,23,46,10,14,6,13:64.476:100 +20 40739002 . CG C 100 PASS DP=141;CSQ_Allele=-;CSQ_SYMBOL=PTPRT;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=23/31;CSQ_INTRON=.;CSQ_Feature=NM_007050.6;CSQ_HGVSc=NM_007050.6:c.3224del;CSQ_HGVSp=NP_008981.4:p.Pro1075ArgfsTer6;CSQ_HGVSg=20:g.40739008del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=245308;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61973088&COSV61973088&COSV61973088&COSV61973088&COSV61973088&COSV61973088&COSV61973088;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,21:141:0.14894:65:-100:0:6,5,1,2,0,7,27,46,15,17,8,28:100:100 +20 40739002 . CG C 100 PASS DP=141;CSQ_Allele=-;CSQ_SYMBOL=PTPRT;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=24/32;CSQ_INTRON=.;CSQ_Feature=NM_133170.4;CSQ_HGVSc=NM_133170.4:c.3281del;CSQ_HGVSp=NP_573400.3:p.Pro1094ArgfsTer6;CSQ_HGVSg=20:g.40739008del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=245308;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV61973088&COSV61973088&COSV61973088&COSV61973088&COSV61973088&COSV61973088&COSV61973088;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,21:141:0.14894:65:-100:0:6,5,1,2,0,7,27,46,15,17,8,28:100:100 +20 41306600 . A G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=PTPRT;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/31;CSQ_INTRON=.;CSQ_Feature=NM_007050.6;CSQ_HGVSc=NM_007050.6:c.1059T>C;CSQ_HGVSp=NP_008981.4:p.Asp353%3D;CSQ_HGVSg=20:g.41306600A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1226281;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12281;CSQ_gnomADg_AN=30830;CSQ_gnomADg_AF=0.398346;CSQ_gnomADe_AC=93711;CSQ_gnomADe_AN=246008;CSQ_gnomADe_AF=0.380927;CSQ_gnomADe_Hom=18299;CSQ_COSMICcMuts=COSV61984408&COSV61984408&COSV61984408&COSV61984408&COSV61984408&COSV61984408&COSV61984408;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRT:D353D;CSQ_CADD_PHRED=4.891 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,90:168:0.53571:65:-100:0.1515:18,32,14,11,5,10,39,57,17,22,10,23:100:100 +20 41306600 . A G 100 PASS DP=168;CSQ_Allele=G;CSQ_SYMBOL=PTPRT;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/32;CSQ_INTRON=.;CSQ_Feature=NM_133170.4;CSQ_HGVSc=NM_133170.4:c.1059T>C;CSQ_HGVSp=NP_573400.3:p.Asp353%3D;CSQ_HGVSg=20:g.41306600A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1226281;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=12281;CSQ_gnomADg_AN=30830;CSQ_gnomADg_AF=0.398346;CSQ_gnomADe_AC=93711;CSQ_gnomADe_AN=246008;CSQ_gnomADe_AF=0.380927;CSQ_gnomADe_Hom=18299;CSQ_COSMICcMuts=COSV61984408&COSV61984408&COSV61984408&COSV61984408&COSV61984408&COSV61984408&COSV61984408;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=PTPRT:D353D;CSQ_CADD_PHRED=4.891 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,90:168:0.53571:65:-100:0.1515:18,32,14,11,5,10,39,57,17,22,10,23:100:100 +20 41419986 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=PTPRT;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/31;CSQ_INTRON=.;CSQ_Feature=NM_007050.6;CSQ_HGVSc=NM_007050.6:c.335G>A;CSQ_HGVSp=NP_008981.4:p.Arg112His;CSQ_HGVSg=20:g.41419986C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=6.45828e-05;CSQ_gnomADe_AC=123;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.000499695;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV61965491&COSV61965491&COSV61965491&COSV61965491&COSV61965491&COSV61965491&COSV61965491;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=0.254;CSQ_Mastermind_MMID3=PTPRT:R112H;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,7:153:0.04575:65:-100:0.1905:0,2,3,0,1,1,19,69,15,18,10,22:71.981:100 +20 41419986 . C T 100 PASS DP=153;CSQ_Allele=T;CSQ_SYMBOL=PTPRT;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/32;CSQ_INTRON=.;CSQ_Feature=NM_133170.4;CSQ_HGVSc=NM_133170.4:c.335G>A;CSQ_HGVSp=NP_573400.3:p.Arg112His;CSQ_HGVSg=20:g.41419986C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30968;CSQ_gnomADg_AF=6.45828e-05;CSQ_gnomADe_AC=123;CSQ_gnomADe_AN=246150;CSQ_gnomADe_AF=0.000499695;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV61965491&COSV61965491&COSV61965491&COSV61965491&COSV61965491&COSV61965491&COSV61965491;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=46;CSQ_SpliceAI_pred_DP_DG=-6;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=0.254;CSQ_Mastermind_MMID3=PTPRT:R112H;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:146,7:153:0.04575:65:-100:0.1905:0,2,3,0,1,1,19,69,15,18,10,22:71.981:100 +20 41818289 . C G 100 PASS DP=15;CSQ_Allele=G;CSQ_SYMBOL=PTPRT;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/31;CSQ_INTRON=.;CSQ_Feature=NM_007050.6;CSQ_HGVSc=NM_007050.6:c.85G>C;CSQ_HGVSp=NP_008981.4:p.Ala29Pro;CSQ_HGVSg=20:g.41818289C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21439;CSQ_gnomADg_AN=30396;CSQ_gnomADg_AF=0.705323;CSQ_gnomADe_AC=13170;CSQ_gnomADe_AN=14498;CSQ_gnomADe_AF=0.908401;CSQ_gnomADe_Hom=6015;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.067;CSQ_Mastermind_MMID3=PTPRT:A29P;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,6:15:0.4:65:-100:0.0625:2,0,3,0,1,0,5,0,6,0,4,0:100:100 +20 41818289 . C G 100 PASS DP=15;CSQ_Allele=G;CSQ_SYMBOL=PTPRT;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/32;CSQ_INTRON=.;CSQ_Feature=NM_133170.4;CSQ_HGVSc=NM_133170.4:c.85G>C;CSQ_HGVSp=NP_573400.3:p.Ala29Pro;CSQ_HGVSg=20:g.41818289C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21439;CSQ_gnomADg_AN=30396;CSQ_gnomADg_AF=0.705323;CSQ_gnomADe_AC=13170;CSQ_gnomADe_AN=14498;CSQ_gnomADe_AF=0.908401;CSQ_gnomADe_Hom=6015;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.067;CSQ_Mastermind_MMID3=PTPRT:A29P;CSQ_CADD_PHRED=22.7 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:9,6:15:0.4:65:-100:0.0625:2,0,3,0,1,0,5,0,6,0,4,0:100:100 +20 46256424 . C T 100 PASS DP=166;CSQ_Allele=T;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/23;CSQ_INTRON=.;CSQ_Feature=NM_001174087.2;CSQ_HGVSc=NM_001174087.2:c.652C>T;CSQ_HGVSp=NP_001167558.1:p.Arg218Cys;CSQ_HGVSg=20:g.46256424C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1528;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.049354;CSQ_gnomADe_AC=10133;CSQ_gnomADe_AN=245954;CSQ_gnomADe_AF=0.0411988;CSQ_gnomADe_Hom=250;CSQ_COSMICcMuts=COSV59066261&COSV59066261&COSV59066261&COSV59066261;CSQ_COSMICncMuts=COSV59066261&COSV59066261;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.204;CSQ_Mastermind_MMID3=NCOA3:R218C;CSQ_CADD_PHRED=25.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,12:166:0.07229:65:-100:0.0778:2,3,0,2,4,1,19,55,13,26,12,41:100:100 +20 46256424 . C T 100 PASS DP=166;CSQ_Allele=T;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/23;CSQ_INTRON=.;CSQ_Feature=NM_001174088.2;CSQ_HGVSc=NM_001174088.2:c.652C>T;CSQ_HGVSp=NP_001167559.1:p.Arg218Cys;CSQ_HGVSg=20:g.46256424C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1528;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.049354;CSQ_gnomADe_AC=10133;CSQ_gnomADe_AN=245954;CSQ_gnomADe_AF=0.0411988;CSQ_gnomADe_Hom=250;CSQ_COSMICcMuts=COSV59066261&COSV59066261&COSV59066261&COSV59066261;CSQ_COSMICncMuts=COSV59066261&COSV59066261;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.204;CSQ_Mastermind_MMID3=NCOA3:R218C;CSQ_CADD_PHRED=25.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,12:166:0.07229:65:-100:0.0778:2,3,0,2,4,1,19,55,13,26,12,41:100:100 +20 46256424 . C T 100 PASS DP=166;CSQ_Allele=T;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/23;CSQ_INTRON=.;CSQ_Feature=NM_181659.3;CSQ_HGVSc=NM_181659.3:c.652C>T;CSQ_HGVSp=NP_858045.1:p.Arg218Cys;CSQ_HGVSg=20:g.46256424C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1528;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.049354;CSQ_gnomADe_AC=10133;CSQ_gnomADe_AN=245954;CSQ_gnomADe_AF=0.0411988;CSQ_gnomADe_Hom=250;CSQ_COSMICcMuts=COSV59066261&COSV59066261&COSV59066261&COSV59066261;CSQ_COSMICncMuts=COSV59066261&COSV59066261;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=0.204;CSQ_Mastermind_MMID3=NCOA3:R218C;CSQ_CADD_PHRED=25.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:154,12:166:0.07229:65:-100:0.0778:2,3,0,2,4,1,19,55,13,26,12,41:100:100 +20 46262886 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_001174087.2;CSQ_HGVSc=NM_001174087.2:c.1059A>G;CSQ_HGVSp=NP_001167558.1:p.Arg353%3D;CSQ_HGVSg=20:g.46262886A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,8:133:0.06015:65:-97.0235:0.1529:1,2,1,3,1,0,18,46,13,20,15,21:80.792:100 +20 46262886 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_001174088.2;CSQ_HGVSc=NM_001174088.2:c.1089A>G;CSQ_HGVSp=NP_001167559.1:p.Arg363%3D;CSQ_HGVSg=20:g.46262886A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,8:133:0.06015:65:-97.0235:0.1529:1,2,1,3,1,0,18,46,13,20,15,21:80.792:100 +20 46262886 . A G 100 PASS DP=133;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_181659.3;CSQ_HGVSc=NM_181659.3:c.1059A>G;CSQ_HGVSp=NP_858045.1:p.Arg353%3D;CSQ_HGVSg=20:g.46262886A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.15 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,8:133:0.06015:65:-97.0235:0.1529:1,2,1,3,1,0,18,46,13,20,15,21:80.792:100 +20 46264124 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/23;CSQ_INTRON=.;CSQ_Feature=NM_001174087.2;CSQ_HGVSc=NM_001174087.2:c.1171A>G;CSQ_HGVSp=NP_001167558.1:p.Met391Val;CSQ_HGVSg=20:g.46264124A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=130;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00419707;CSQ_gnomADe_AC=242;CSQ_gnomADe_AN=246050;CSQ_gnomADe_AF=0.00098354;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.050;CSQ_Mastermind_MMID3=NCOA3:M391V;CSQ_CADD_PHRED=3.073 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,24:159:0.15094:65:-100:0.1017:1,4,3,7,4,5,28,43,10,34,15,29:100:100 +20 46264124 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/23;CSQ_INTRON=.;CSQ_Feature=NM_001174088.2;CSQ_HGVSc=NM_001174088.2:c.1201A>G;CSQ_HGVSp=NP_001167559.1:p.Met401Val;CSQ_HGVSg=20:g.46264124A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=130;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00419707;CSQ_gnomADe_AC=242;CSQ_gnomADe_AN=246050;CSQ_gnomADe_AF=0.00098354;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.050;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.073 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,24:159:0.15094:65:-100:0.1017:1,4,3,7,4,5,28,43,10,34,15,29:100:100 +20 46264124 . A G 100 PASS DP=159;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/23;CSQ_INTRON=.;CSQ_Feature=NM_181659.3;CSQ_HGVSc=NM_181659.3:c.1171A>G;CSQ_HGVSp=NP_858045.1:p.Met391Val;CSQ_HGVSg=20:g.46264124A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=130;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.00419707;CSQ_gnomADe_AC=242;CSQ_gnomADe_AN=246050;CSQ_gnomADe_AF=0.00098354;CSQ_gnomADe_Hom=3;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.09;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.050;CSQ_Mastermind_MMID3=NCOA3:M391V;CSQ_CADD_PHRED=3.073 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,24:159:0.15094:65:-100:0.1017:1,4,3,7,4,5,28,43,10,34,15,29:100:100 +20 46268394 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NM_001174087.2;CSQ_HGVSc=NM_001174087.2:c.2781C>T;CSQ_HGVSp=NP_001167558.1:p.Ala927%3D;CSQ_HGVSg=20:g.46268394C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1380;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0445909;CSQ_gnomADe_AC=3960;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.0160963;CSQ_gnomADe_Hom=187;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOA3:A922A&NCOA3:A927A;CSQ_CADD_PHRED=10.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,36:140:0.25714:65:-100:0.1463:11,10,3,8,0,4,32,44,11,27,6,20:100:100 +20 46268394 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NM_001174088.2;CSQ_HGVSc=NM_001174088.2:c.2766C>T;CSQ_HGVSp=NP_001167559.1:p.Ala922%3D;CSQ_HGVSg=20:g.46268394C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1380;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0445909;CSQ_gnomADe_AC=3960;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.0160963;CSQ_gnomADe_Hom=187;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOA3:A922A&NCOA3:A927A;CSQ_CADD_PHRED=10.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,36:140:0.25714:65:-100:0.1463:11,10,3,8,0,4,32,44,11,27,6,20:100:100 +20 46268394 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NM_181659.3;CSQ_HGVSc=NM_181659.3:c.2781C>T;CSQ_HGVSp=NP_858045.1:p.Ala927%3D;CSQ_HGVSg=20:g.46268394C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1380;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.0445909;CSQ_gnomADe_AC=3960;CSQ_gnomADe_AN=246020;CSQ_gnomADe_AF=0.0160963;CSQ_gnomADe_Hom=187;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOA3:A922A&NCOA3:A927A;CSQ_CADD_PHRED=10.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,36:140:0.25714:65:-100:0.1463:11,10,3,8,0,4,32,44,11,27,6,20:100:100 +20 46268493 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NM_001174087.2;CSQ_HGVSc=NM_001174087.2:c.2880A>G;CSQ_HGVSp=NP_001167558.1:p.Thr960%3D;CSQ_HGVSg=20:g.46268493A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3796;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.122713;CSQ_gnomADe_AC=22660;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.0920367;CSQ_gnomADe_Hom=1265;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOA3:T955T&NCOA3:T960T;CSQ_CADD_PHRED=1.890 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,45:145:0.31034:65:-100:0.1618:7,15,3,11,6,3,26,46,15,24,14,20:100:100 +20 46268493 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NM_001174088.2;CSQ_HGVSc=NM_001174088.2:c.2865A>G;CSQ_HGVSp=NP_001167559.1:p.Thr955%3D;CSQ_HGVSg=20:g.46268493A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3796;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.122713;CSQ_gnomADe_AC=22660;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.0920367;CSQ_gnomADe_Hom=1265;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOA3:T955T&NCOA3:T960T;CSQ_CADD_PHRED=1.890 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,45:145:0.31034:65:-100:0.1618:7,15,3,11,6,3,26,46,15,24,14,20:100:100 +20 46268493 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/23;CSQ_INTRON=.;CSQ_Feature=NM_181659.3;CSQ_HGVSc=NM_181659.3:c.2880A>G;CSQ_HGVSp=NP_858045.1:p.Thr960%3D;CSQ_HGVSg=20:g.46268493A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3796;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.122713;CSQ_gnomADe_AC=22660;CSQ_gnomADe_AN=246206;CSQ_gnomADe_AF=0.0920367;CSQ_gnomADe_Hom=1265;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=21;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=NCOA3:T955T&NCOA3:T960T;CSQ_CADD_PHRED=1.890 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,45:145:0.31034:65:-100:0.1618:7,15,3,11,6,3,26,46,15,24,14,20:100:100 +20 46268788 . C G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/23;CSQ_INTRON=.;CSQ_Feature=NM_001174087.2;CSQ_HGVSc=NM_001174087.2:c.3073C>G;CSQ_HGVSp=NP_001167558.1:p.Gln1025Glu;CSQ_HGVSg=20:g.46268788C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.164;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,13:165:0.07879:65:-100:0.1033:0,6,4,0,1,2,28,59,13,24,18,23:100:100 +20 46268788 . C G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/23;CSQ_INTRON=.;CSQ_Feature=NM_001174088.2;CSQ_HGVSc=NM_001174088.2:c.3058C>G;CSQ_HGVSp=NP_001167559.1:p.Gln1020Glu;CSQ_HGVSg=20:g.46268788C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.164;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,13:165:0.07879:65:-100:0.1033:0,6,4,0,1,2,28,59,13,24,18,23:100:100 +20 46268788 . C G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=NCOA3;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=16/23;CSQ_INTRON=.;CSQ_Feature=NM_181659.3;CSQ_HGVSc=NM_181659.3:c.3073C>G;CSQ_HGVSp=NP_858045.1:p.Gln1025Glu;CSQ_HGVSg=20:g.46268788C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=0.164;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:152,13:165:0.07879:65:-100:0.1033:0,6,4,0,1,2,28,59,13,24,18,23:100:100 +20 52188376 . T A 100 PASS DP=104;CSQ_Allele=A;CSQ_SYMBOL=ZNF217;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/6;CSQ_INTRON=.;CSQ_Feature=NM_006526.3;CSQ_HGVSc=NM_006526.3:c.3054A>T;CSQ_HGVSp=NP_006517.1:p.Ser1018%3D;CSQ_HGVSg=20:g.52188376T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=791210;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=495;CSQ_gnomADg_AN=30870;CSQ_gnomADg_AF=0.016035;CSQ_gnomADe_AC=946;CSQ_gnomADe_AN=238082;CSQ_gnomADe_AF=0.00397342;CSQ_gnomADe_Hom=16;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.631 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:82,22:104:0.21154:65:-100:0.1613:6,4,1,4,3,4,21,26,8,22,9,18:100:100 +20 52192453 . G A 100 PASS DP=177;CSQ_Allele=A;CSQ_SYMBOL=ZNF217;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_006526.3;CSQ_HGVSc=NM_006526.3:c.2850C>T;CSQ_HGVSp=NP_006517.1:p.Gly950%3D;CSQ_HGVSg=20:g.52192453G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=791211;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=470;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.0151789;CSQ_gnomADe_AC=924;CSQ_gnomADe_AN=246080;CSQ_gnomADe_AF=0.00375488;CSQ_gnomADe_Hom=16;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-19;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.145 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:138,39:177:0.22034:65:-100:0.1408:5,18,3,6,3,4,35,63,16,23,14,26:100:100 +20 52193032 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=ZNF217;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_006526.3;CSQ_HGVSc=NM_006526.3:c.2271G>A;CSQ_HGVSp=NP_006517.1:p.Pro757%3D;CSQ_HGVSg=20:g.52193032C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=102;CSQ_gnomADg_AN=30978;CSQ_gnomADg_AF=0.00329266;CSQ_gnomADe_AC=886;CSQ_gnomADe_AN=246248;CSQ_gnomADe_AF=0.003598;CSQ_gnomADe_Hom=4;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=32;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZNF217:P757P;CSQ_CADD_PHRED=0.077 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:147,15:162:0.09259:65:-100:0.1243:3,3,0,2,2,5,27,58,14,25,13,25:100:100 +20 52193045 . C T 100 PASS DP=151;CSQ_Allele=T;CSQ_SYMBOL=ZNF217;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_006526.3;CSQ_HGVSc=NM_006526.3:c.2258G>A;CSQ_HGVSp=NP_006517.1:p.Arg753His;CSQ_HGVSg=20:g.52193045C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV56594440&COSV56594440;CSQ_COSMICncMuts=COSV56594440&COSV56594440;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=49;CSQ_SpliceAI_pred_DP_AL=8;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.243;CSQ_Mastermind_MMID3=ZNF217:R753H;CSQ_CADD_PHRED=23.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:133,18:151:0.11921:65:-100:0.1611:3,7,0,3,2,3,28,51,15,21,15,21:100:100 +20 52198340 . T A 100 PASS DP=190;CSQ_Allele=A;CSQ_SYMBOL=ZNF217;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_006526.3;CSQ_HGVSc=NM_006526.3:c.1026A>T;CSQ_HGVSp=NP_006517.1:p.Ala342%3D;CSQ_HGVSg=20:g.52198340T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2696;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0871251;CSQ_gnomADe_AC=28175;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.11441;CSQ_gnomADe_Hom=2694;CSQ_COSMICcMuts=COSV56593397&COSV56593397;CSQ_COSMICncMuts=COSV56593397&COSV56593397;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=17;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZNF217:A342A;CSQ_CADD_PHRED=2.891 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:178,12:190:0.06316:65:-100:0.1121:3,5,0,1,1,2,40,68,19,25,12,26:100:100 +20 52198967 . A G 100 PASS DP=113;CSQ_Allele=G;CSQ_SYMBOL=ZNF217;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/6;CSQ_INTRON=.;CSQ_Feature=NM_006526.3;CSQ_HGVSc=NM_006526.3:c.399T>C;CSQ_HGVSp=NP_006517.1:p.Cys133%3D;CSQ_HGVSg=20:g.52198967A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1987;CSQ_gnomADg_AN=30958;CSQ_gnomADg_AF=0.0641837;CSQ_gnomADe_AC=15493;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.0629132;CSQ_gnomADe_Hom=812;CSQ_COSMICcMuts=COSV56593419&COSV56593419;CSQ_COSMICncMuts=COSV56593419&COSV56593419;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.179 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,7:113:0.06195:65:-100:0.3506:1,5,1,0,0,0,28,44,15,10,12,4:81.142:100 +20 54961463 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=AURKA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_003600.4;CSQ_HGVSc=NM_003600.4:c.169A>G;CSQ_HGVSp=NP_003591.2:p.Ile57Val;CSQ_HGVSg=20:g.54961463T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26010;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.841312;CSQ_gnomADe_AC=209460;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.850551;CSQ_gnomADe_Hom=89212;CSQ_COSMICcMuts=COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.031;CSQ_Mastermind_MMID3=AURKA:I57V;CSQ_CADD_PHRED=0.300 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,144:152:0.94737:65:-100:0.1314:17,62,8,22,12,23,20,66,8,22,12,24:100:100 +20 54961463 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=AURKA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_198434.3;CSQ_HGVSc=NM_198434.3:c.169A>G;CSQ_HGVSp=NP_940836.1:p.Ile57Val;CSQ_HGVSg=20:g.54961463T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26010;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.841312;CSQ_gnomADe_AC=209460;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.850551;CSQ_gnomADe_Hom=89212;CSQ_COSMICcMuts=COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.031;CSQ_Mastermind_MMID3=AURKA:I57V;CSQ_CADD_PHRED=0.300 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,144:152:0.94737:65:-100:0.1314:17,62,8,22,12,23,20,66,8,22,12,24:100:100 +20 54961463 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=AURKA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_198436.3;CSQ_HGVSc=NM_198436.3:c.169A>G;CSQ_HGVSp=NP_940838.1:p.Ile57Val;CSQ_HGVSg=20:g.54961463T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26010;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.841312;CSQ_gnomADe_AC=209460;CSQ_gnomADe_AN=246264;CSQ_gnomADe_AF=0.850551;CSQ_gnomADe_Hom=89212;CSQ_COSMICcMuts=COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806&COSV100452806;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=0.031;CSQ_Mastermind_MMID3=AURKA:I57V;CSQ_CADD_PHRED=0.300 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:8,144:152:0.94737:65:-100:0.1314:17,62,8,22,12,23,20,66,8,22,12,24:100:100 +20 54961541 . A T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=AURKA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_003600.4;CSQ_HGVSc=NM_003600.4:c.91T>A;CSQ_HGVSp=NP_003591.2:p.Phe31Ile;CSQ_HGVSg=20:g.54961541A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=6642;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colon_cancer&_susceptibility_to¬_provided;CSQ_gnomADg_AC=7231;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.233771;CSQ_gnomADe_AC=68179;CSQ_gnomADe_AN=246228;CSQ_gnomADe_AF=0.276894;CSQ_gnomADe_Hom=11395;CSQ_COSMICcMuts=COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=0.052;CSQ_Mastermind_MMID3=AURKA:F31I;CSQ_CADD_PHRED=0.105 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,17:170:0.1:65:-100:0.1282:1,3,1,8,2,2,30,54,17,26,14,29:100:100 +20 54961541 . A T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=AURKA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_198434.3;CSQ_HGVSc=NM_198434.3:c.91T>A;CSQ_HGVSp=NP_940836.1:p.Phe31Ile;CSQ_HGVSg=20:g.54961541A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=6642;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colon_cancer&_susceptibility_to¬_provided;CSQ_gnomADg_AC=7231;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.233771;CSQ_gnomADe_AC=68179;CSQ_gnomADe_AN=246228;CSQ_gnomADe_AF=0.276894;CSQ_gnomADe_Hom=11395;CSQ_COSMICcMuts=COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=0.052;CSQ_Mastermind_MMID3=AURKA:F31I;CSQ_CADD_PHRED=0.105 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,17:170:0.1:65:-100:0.1282:1,3,1,8,2,2,30,54,17,26,14,29:100:100 +20 54961541 . A T 100 PASS DP=170;CSQ_Allele=T;CSQ_SYMBOL=AURKA;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/10;CSQ_INTRON=.;CSQ_Feature=NM_198436.3;CSQ_HGVSc=NM_198436.3:c.91T>A;CSQ_HGVSp=NP_940838.1:p.Phe31Ile;CSQ_HGVSg=20:g.54961541A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=6642;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Colon_cancer&_susceptibility_to¬_provided;CSQ_gnomADg_AC=7231;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.233771;CSQ_gnomADe_AC=68179;CSQ_gnomADe_AN=246228;CSQ_gnomADe_AF=0.276894;CSQ_gnomADe_Hom=11395;CSQ_COSMICcMuts=COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236&COSV57167236;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=0.052;CSQ_Mastermind_MMID3=AURKA:F31I;CSQ_CADD_PHRED=0.105 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:153,17:170:0.1:65:-100:0.1282:1,3,1,8,2,2,30,54,17,26,14,29:100:100 +20 57415455 . C T 100 PASS DP=172;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.294C>T;CSQ_HGVSp=NP_057676.1:p.Pro98%3D;CSQ_HGVSg=20:g.57415455C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1205855;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1435;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=0.0463981;CSQ_gnomADe_AC=7307;CSQ_gnomADe_AN=244474;CSQ_gnomADe_AF=0.0298887;CSQ_gnomADe_Hom=169;CSQ_COSMICcMuts=COSV58330333&COSV58330333&COSV58330333;CSQ_COSMICncMuts=COSV58330333&COSV58330333&COSV58330333&COSV58330333&COSV58330333&COSV58330333&COSV58330333&COSV58330333&COSV58330333;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:P98P;CSQ_CADD_PHRED=10.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:134,38:172:0.22093:65:-100:0.14:5,11,5,6,6,5,26,49,18,32,21,26:100:100 +20 57415471 . G A 100 PASS DP=184;CSQ_Allele=A;CSQ_SYMBOL=GNAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.310G>A;CSQ_HGVSp=NP_057676.1:p.Glu104Lys;CSQ_HGVSg=20:g.57415471G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58344286&COSV58344286&COSV58344286;CSQ_COSMICncMuts=COSV58344286&COSV58344286&COSV58344286&COSV58344286&COSV58344286&COSV58344286&COSV58344286&COSV58344286&COSV58344286;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=GNAS:E104K;CSQ_CADD_PHRED=23.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:177,7:184:0.03804:65:-45.5062:0.1362:0,3,1,2,0,1,31,49,19,38,21,26:63.722:100 +20 57428819 . G C 100 PASS DP=170;CSQ_Allele=C;CSQ_SYMBOL=GNAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*42+12878G>C;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57428819G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907;CSQ_COSMICncMuts=COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,8:170:0.04706:65:-94.9486:0.1282:1,4,2,1,0,0,36,60,15,21,14,24:90.447:100 +20 57428819 . G C 100 PASS DP=170;CSQ_Allele=C;CSQ_SYMBOL=GNAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.499G>C;CSQ_HGVSp=NP_536350.2:p.Asp167His;CSQ_HGVSg=20:g.57428819G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907;CSQ_COSMICncMuts=COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907&COSV58346907;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.199;CSQ_Mastermind_MMID3=GNAS:D167H&GNAS:L104F;CSQ_CADD_PHRED=15.41 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:162,8:170:0.04706:65:-94.9486:0.1282:1,4,2,1,0,0,36,60,15,21,14,24:90.447:100 +20 57429349 . A C 100 PASS DP=180;CSQ_Allele=C;CSQ_SYMBOL=GNAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*42+13408A>C;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57429349A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58328680&COSV58328680&COSV58328680&COSV58328680&COSV58328680&COSV58328680&COSV58328680;CSQ_COSMICncMuts=COSV58328680&COSV58328680&COSV58328680&COSV58328680&COSV58328680;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,37:180:0.20556:65:-100:0.1549:7,11,6,5,3,5,29,61,19,29,14,28:100:100 +20 57429349 . A C 100 PASS DP=180;CSQ_Allele=C;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.1029A>C;CSQ_HGVSp=NP_536350.2:p.Pro343%3D;CSQ_HGVSg=20:g.57429349A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58328680&COSV58328680&COSV58328680&COSV58328680&COSV58328680&COSV58328680&COSV58328680;CSQ_COSMICncMuts=COSV58328680&COSV58328680&COSV58328680&COSV58328680&COSV58328680;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.44 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,37:180:0.20556:65:-100:0.1549:7,11,6,5,3,5,29,61,19,29,14,28:100:100 +20 57429447 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*42+13506C>T;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57429447C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134483;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=539;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.017449;CSQ_gnomADe_AC=3666;CSQ_gnomADe_AN=166218;CSQ_gnomADe_AF=0.0220554;CSQ_gnomADe_Hom=64;CSQ_COSMICcMuts=COSV58330503&COSV58330503&COSV58330503&COSV58330503&COSV58330503&COSV58330503&COSV58330503;CSQ_COSMICncMuts=COSV58330503&COSV58330503&COSV58330503&COSV58330503&COSV58330503;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:3UTRint&GNAS:3UTRintd&GNAS:5UTR&GNAS:5UTRint&GNAS:5UTRintd&GNAS:P376L&GNAS:R314W;CSQ_CADD_PHRED=17.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,11:140:0.07857:65:-100:0.1716:3,3,0,3,1,1,20,53,12,20,9,26:100:100 +20 57429447 . C T 100 PASS DP=140;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.1127C>T;CSQ_HGVSp=NP_536350.2:p.Pro376Leu;CSQ_HGVSg=20:g.57429447C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134483;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=539;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.017449;CSQ_gnomADe_AC=3666;CSQ_gnomADe_AN=166218;CSQ_gnomADe_AF=0.0220554;CSQ_gnomADe_Hom=64;CSQ_COSMICcMuts=COSV58330503&COSV58330503&COSV58330503&COSV58330503&COSV58330503&COSV58330503&COSV58330503;CSQ_COSMICncMuts=COSV58330503&COSV58330503&COSV58330503&COSV58330503&COSV58330503;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.189;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:3UTRint&GNAS:3UTRintd&GNAS:5UTR&GNAS:5UTRint&GNAS:5UTRintd&GNAS:P376L&GNAS:R314W;CSQ_CADD_PHRED=17.49 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,11:140:0.07857:65:-100:0.1716:3,3,0,3,1,1,20,53,12,20,9,26:100:100 +20 57429627 . C A 100 PASS DP=88;CSQ_Allele=A;CSQ_SYMBOL=GNAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*42+13686C>A;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57429627C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134479;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pseudohypoparathyroidism_type_I_A&Progressive_osseous_heteroplasia&Pseudohypoparathyroidism_type_1B&Pseudohypoparathyroidism_type_1C&Pseudopseudohypoparathyroidism&McCune-Albright_syndrome&ACTH-independent_macronodular_adrenal_hyperplasia_1&Pituitary_adenoma_3&_multiple_types¬_specified¬_provided;CSQ_gnomADg_AC=1913;CSQ_gnomADg_AN=29836;CSQ_gnomADg_AF=0.0641172;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58328304&COSV58328304&COSV58328304&COSV58328304&COSV58328304&COSV58328304&COSV58328304;CSQ_COSMICncMuts=COSV58328304&COSV58328304&COSV58328304&COSV58328304&COSV58328304;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:3UTRint&GNAS:3UTRintd&GNAS:5UTR&GNAS:5UTRint&GNAS:5UTRintd&GNAS:A436D&GNAS:P374T;CSQ_CADD_PHRED=0.049 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,36:88:0.40909:65:-100:0.3231:4,13,4,4,9,2,18,25,16,8,15,6:100:100 +20 57429627 . C A 100 PASS DP=88;CSQ_Allele=A;CSQ_SYMBOL=GNAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.1307C>A;CSQ_HGVSp=NP_536350.2:p.Ala436Asp;CSQ_HGVSg=20:g.57429627C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134479;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pseudohypoparathyroidism_type_I_A&Progressive_osseous_heteroplasia&Pseudohypoparathyroidism_type_1B&Pseudohypoparathyroidism_type_1C&Pseudopseudohypoparathyroidism&McCune-Albright_syndrome&ACTH-independent_macronodular_adrenal_hyperplasia_1&Pituitary_adenoma_3&_multiple_types¬_specified¬_provided;CSQ_gnomADg_AC=1913;CSQ_gnomADg_AN=29836;CSQ_gnomADg_AF=0.0641172;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58328304&COSV58328304&COSV58328304&COSV58328304&COSV58328304&COSV58328304&COSV58328304;CSQ_COSMICncMuts=COSV58328304&COSV58328304&COSV58328304&COSV58328304&COSV58328304;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.223;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:3UTRint&GNAS:3UTRintd&GNAS:5UTR&GNAS:5UTRint&GNAS:5UTRintd&GNAS:A436D&GNAS:P374T;CSQ_CADD_PHRED=0.049 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:52,36:88:0.40909:65:-100:0.3231:4,13,4,4,9,2,18,25,16,8,15,6:100:100 +20 57429696 . C G 100 PASS DP=41;CSQ_Allele=G;CSQ_SYMBOL=GNAS;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/12;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*42+13755C>G;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57429696C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134480;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pseudohypoparathyroidism_type_I_A&Progressive_osseous_heteroplasia&Pseudohypoparathyroidism_type_1B&Pseudohypoparathyroidism_type_1C&Pseudopseudohypoparathyroidism&McCune-Albright_syndrome&ACTH-independent_macronodular_adrenal_hyperplasia_1&Pituitary_adenoma_3&_multiple_types¬_specified¬_provided;CSQ_gnomADg_AC=543;CSQ_gnomADg_AN=29964;CSQ_gnomADg_AF=0.0181217;CSQ_gnomADe_AC=1155;CSQ_gnomADe_AN=120694;CSQ_gnomADe_AF=0.00956966;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV58326923&COSV58326923&COSV58326923&COSV58326923&COSV58326923&COSV58326923&COSV58326923;CSQ_COSMICncMuts=COSV58326923&COSV58326923&COSV58326923&COSV58326923&COSV58326923;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:3UTRint&GNAS:3UTRintd&GNAS:5UTR&GNAS:5UTRint&GNAS:5UTRintd&GNAS:L397V&GNAS:P459R;CSQ_CADD_PHRED=12.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,12:41:0.29268:65:-100:0.2407:6,1,3,0,2,0,18,2,7,1,10,3:100:100 +20 57429696 . C G 100 PASS DP=41;CSQ_Allele=G;CSQ_SYMBOL=GNAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.1376C>G;CSQ_HGVSp=NP_536350.2:p.Pro459Arg;CSQ_HGVSg=20:g.57429696C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134480;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pseudohypoparathyroidism_type_I_A&Progressive_osseous_heteroplasia&Pseudohypoparathyroidism_type_1B&Pseudohypoparathyroidism_type_1C&Pseudopseudohypoparathyroidism&McCune-Albright_syndrome&ACTH-independent_macronodular_adrenal_hyperplasia_1&Pituitary_adenoma_3&_multiple_types¬_specified¬_provided;CSQ_gnomADg_AC=543;CSQ_gnomADg_AN=29964;CSQ_gnomADg_AF=0.0181217;CSQ_gnomADe_AC=1155;CSQ_gnomADe_AN=120694;CSQ_gnomADe_AF=0.00956966;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=COSV58326923&COSV58326923&COSV58326923&COSV58326923&COSV58326923&COSV58326923&COSV58326923;CSQ_COSMICncMuts=COSV58326923&COSV58326923&COSV58326923&COSV58326923&COSV58326923;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=0.212;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:3UTRint&GNAS:3UTRintd&GNAS:5UTR&GNAS:5UTRint&GNAS:5UTRintd&GNAS:L397V&GNAS:P459R;CSQ_CADD_PHRED=12.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,12:41:0.29268:65:-100:0.2407:6,1,3,0,2,0,18,2,7,1,10,3:100:100 +20 57478807 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_001077489.4;CSQ_HGVSc=NM_001077489.4:c.348C>T;CSQ_HGVSp=NP_001070957.1:p.Ile116%3D;CSQ_HGVSg=20:g.57478807C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=197681;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pseudohypoparathyroidism_type_I_A&Progressive_osseous_heteroplasia&Pseudohypoparathyroidism_type_1B&Pseudohypoparathyroidism_type_1C&Pseudopseudohypoparathyroidism¬_specified¬_provided;CSQ_gnomADg_AC=17102;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.556344;CSQ_gnomADe_AC=133380;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.541623;CSQ_gnomADe_Hom=37660;CSQ_COSMICcMuts=COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982;CSQ_COSMICncMuts=COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:I116I&GNAS:I117I&GNAS:I131I&GNAS:I132I&GNAS:I72I&GNAS:I774I;CSQ_CADD_PHRED=7.248 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,74:161:0.45963:65:-100:0.0955:8,25,9,15,5,12,21,53,20,29,14,24:100:100 +20 57478807 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=5/13;CSQ_INTRON=.;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*299C>T;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57478807C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=197681;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pseudohypoparathyroidism_type_I_A&Progressive_osseous_heteroplasia&Pseudohypoparathyroidism_type_1B&Pseudohypoparathyroidism_type_1C&Pseudopseudohypoparathyroidism¬_specified¬_provided;CSQ_gnomADg_AC=17102;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.556344;CSQ_gnomADe_AC=133380;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.541623;CSQ_gnomADe_Hom=37660;CSQ_COSMICcMuts=COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982;CSQ_COSMICncMuts=COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.248 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,74:161:0.45963:65:-100:0.0955:8,25,9,15,5,12,21,53,20,29,14,24:100:100 +20 57478807 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=5/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.2322C>T;CSQ_HGVSp=NP_536350.2:p.Ile774%3D;CSQ_HGVSg=20:g.57478807C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=197681;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pseudohypoparathyroidism_type_I_A&Progressive_osseous_heteroplasia&Pseudohypoparathyroidism_type_1B&Pseudohypoparathyroidism_type_1C&Pseudopseudohypoparathyroidism¬_specified¬_provided;CSQ_gnomADg_AC=17102;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.556344;CSQ_gnomADe_AC=133380;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.541623;CSQ_gnomADe_Hom=37660;CSQ_COSMICcMuts=COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982;CSQ_COSMICncMuts=COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:I116I&GNAS:I117I&GNAS:I131I&GNAS:I132I&GNAS:I72I&GNAS:I774I;CSQ_CADD_PHRED=7.248 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,74:161:0.45963:65:-100:0.0955:8,25,9,15,5,12,21,53,20,29,14,24:100:100 +20 57478807 . C T 100 PASS DP=161;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/12;CSQ_INTRON=.;CSQ_Feature=NM_080426.4;CSQ_HGVSc=NM_080426.4:c.351C>T;CSQ_HGVSp=NP_536351.1:p.Ile117%3D;CSQ_HGVSg=20:g.57478807C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=197681;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Pseudohypoparathyroidism_type_I_A&Progressive_osseous_heteroplasia&Pseudohypoparathyroidism_type_1B&Pseudohypoparathyroidism_type_1C&Pseudopseudohypoparathyroidism¬_specified¬_provided;CSQ_gnomADg_AC=17102;CSQ_gnomADg_AN=30740;CSQ_gnomADg_AF=0.556344;CSQ_gnomADe_AC=133380;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=0.541623;CSQ_gnomADe_Hom=37660;CSQ_COSMICcMuts=COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982;CSQ_COSMICncMuts=COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982&COSV55672982;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:I116I&GNAS:I117I&GNAS:I131I&GNAS:I132I&GNAS:I72I&GNAS:I774I;CSQ_CADD_PHRED=7.248 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:87,74:161:0.45963:65:-100:0.0955:8,25,9,15,5,12,21,53,20,29,14,24:100:100 +20 57484241 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_001077489.4;CSQ_HGVSc=NM_001077489.4:c.510C>T;CSQ_HGVSp=NP_001070957.1:p.Ile170%3D;CSQ_HGVSg=20:g.57484241C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166173;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2470;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0798165;CSQ_gnomADe_AC=6673;CSQ_gnomADe_AN=246254;CSQ_gnomADe_AF=0.027098;CSQ_gnomADe_Hom=509;CSQ_COSMICcMuts=COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336;CSQ_COSMICncMuts=COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:I126I&GNAS:I170I&GNAS:I171I&GNAS:I185I&GNAS:I186I&GNAS:I828I;CSQ_CADD_PHRED=15.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,48:162:0.2963:65:-100:0.105:7,17,3,12,4,5,23,52,15,34,13,25:100:100 +20 57484241 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/13;CSQ_INTRON=.;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*461C>T;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57484241C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166173;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2470;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0798165;CSQ_gnomADe_AC=6673;CSQ_gnomADe_AN=246254;CSQ_gnomADe_AF=0.027098;CSQ_gnomADe_Hom=509;CSQ_COSMICcMuts=COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336;CSQ_COSMICncMuts=COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=15.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,48:162:0.2963:65:-100:0.105:7,17,3,12,4,5,23,52,15,34,13,25:100:100 +20 57484241 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.2484C>T;CSQ_HGVSp=NP_536350.2:p.Ile828%3D;CSQ_HGVSg=20:g.57484241C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166173;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2470;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0798165;CSQ_gnomADe_AC=6673;CSQ_gnomADe_AN=246254;CSQ_gnomADe_AF=0.027098;CSQ_gnomADe_Hom=509;CSQ_COSMICcMuts=COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336;CSQ_COSMICncMuts=COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:I126I&GNAS:I170I&GNAS:I171I&GNAS:I185I&GNAS:I186I&GNAS:I828I;CSQ_CADD_PHRED=15.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,48:162:0.2963:65:-100:0.105:7,17,3,12,4,5,23,52,15,34,13,25:100:100 +20 57484241 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_080426.4;CSQ_HGVSc=NM_080426.4:c.513C>T;CSQ_HGVSp=NP_536351.1:p.Ile171%3D;CSQ_HGVSg=20:g.57484241C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166173;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=2470;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.0798165;CSQ_gnomADe_AC=6673;CSQ_gnomADe_AN=246254;CSQ_gnomADe_AF=0.027098;CSQ_gnomADe_Hom=509;CSQ_COSMICcMuts=COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336;CSQ_COSMICncMuts=COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336&COSV99671336;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:I126I&GNAS:I170I&GNAS:I171I&GNAS:I185I&GNAS:I186I&GNAS:I828I;CSQ_CADD_PHRED=15.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,48:162:0.2963:65:-100:0.105:7,17,3,12,4,5,23,52,15,34,13,25:100:100 +20 57485119 . A G 100 PASS DP=181;CSQ_Allele=G;CSQ_SYMBOL=GNAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/12;CSQ_INTRON=.;CSQ_Feature=NM_001077489.4;CSQ_HGVSc=NM_001077489.4:c.908A>G;CSQ_HGVSp=NP_001070957.1:p.Tyr303Cys;CSQ_HGVSg=20:g.57485119A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832;CSQ_COSMICncMuts=COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.827;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,12:181:0.0663:65:-100:0.1298:1,6,1,2,1,1,35,65,13,31,15,22:100:100 +20 57485119 . A G 100 PASS DP=181;CSQ_Allele=G;CSQ_SYMBOL=GNAS;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=11/13;CSQ_INTRON=.;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*859A>G;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57485119A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832;CSQ_COSMICncMuts=COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,12:181:0.0663:65:-100:0.1298:1,6,1,2,1,1,35,65,13,31,15,22:100:100 +20 57485119 . A G 100 PASS DP=181;CSQ_Allele=G;CSQ_SYMBOL=GNAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.2882A>G;CSQ_HGVSp=NP_536350.2:p.Tyr961Cys;CSQ_HGVSg=20:g.57485119A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832;CSQ_COSMICncMuts=COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.827;CSQ_Mastermind_MMID3=GNAS:Y259C&GNAS:Y318C&GNAS:Y961C;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,12:181:0.0663:65:-100:0.1298:1,6,1,2,1,1,35,65,13,31,15,22:100:100 +20 57485119 . A G 100 PASS DP=181;CSQ_Allele=G;CSQ_SYMBOL=GNAS;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/12;CSQ_INTRON=.;CSQ_Feature=NM_080426.4;CSQ_HGVSc=NM_080426.4:c.911A>G;CSQ_HGVSp=NP_536351.1:p.Tyr304Cys;CSQ_HGVSg=20:g.57485119A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832;CSQ_COSMICncMuts=COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832&COSV55673832;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.827;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:169,12:181:0.0663:65:-100:0.1298:1,6,1,2,1,1,35,65,13,31,15,22:100:100 +20 57485812 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001077489.4;CSQ_HGVSc=NM_001077489.4:c.1068C>T;CSQ_HGVSp=NP_001070957.1:p.Asn356%3D;CSQ_HGVSg=20:g.57485812C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166174;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1772;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0572499;CSQ_gnomADe_AC=5284;CSQ_gnomADe_AN=246244;CSQ_gnomADe_AF=0.0214584;CSQ_gnomADe_Hom=266;CSQ_COSMICcMuts=COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986;CSQ_COSMICncMuts=COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:N1014N&GNAS:N312N&GNAS:N356N&GNAS:N357N&GNAS:N371N&GNAS:N372N;CSQ_CADD_PHRED=11.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,16:157:0.10191:65:-100:0.1649:2,7,1,3,2,1,29,49,14,35,6,24:100:100 +20 57485812 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_016592.5;CSQ_HGVSc=NM_016592.5:c.*1019C>T;CSQ_HGVSp=.;CSQ_HGVSg=20:g.57485812C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166174;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1772;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0572499;CSQ_gnomADe_AC=5284;CSQ_gnomADe_AN=246244;CSQ_gnomADe_AF=0.0214584;CSQ_gnomADe_Hom=266;CSQ_COSMICcMuts=COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986;CSQ_COSMICncMuts=COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,16:157:0.10191:65:-100:0.1649:2,7,1,3,2,1,29,49,14,35,6,24:100:100 +20 57485812 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_080425.4;CSQ_HGVSc=NM_080425.4:c.3042C>T;CSQ_HGVSp=NP_536350.2:p.Asn1014%3D;CSQ_HGVSg=20:g.57485812C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166174;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1772;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0572499;CSQ_gnomADe_AC=5284;CSQ_gnomADe_AN=246244;CSQ_gnomADe_AF=0.0214584;CSQ_gnomADe_Hom=266;CSQ_COSMICcMuts=COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986;CSQ_COSMICncMuts=COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:N1014N&GNAS:N312N&GNAS:N356N&GNAS:N357N&GNAS:N371N&GNAS:N372N;CSQ_CADD_PHRED=11.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,16:157:0.10191:65:-100:0.1649:2,7,1,3,2,1,29,49,14,35,6,24:100:100 +20 57485812 . C T 100 PASS DP=157;CSQ_Allele=T;CSQ_SYMBOL=GNAS;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_080426.4;CSQ_HGVSc=NM_080426.4:c.1071C>T;CSQ_HGVSp=NP_536351.1:p.Asn357%3D;CSQ_HGVSg=20:g.57485812C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1166174;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified¬_provided;CSQ_gnomADg_AC=1772;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.0572499;CSQ_gnomADe_AC=5284;CSQ_gnomADe_AN=246244;CSQ_gnomADe_AF=0.0214584;CSQ_gnomADe_Hom=266;CSQ_COSMICcMuts=COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986;CSQ_COSMICncMuts=COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986&COSV55686986;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=GNAS:3UTR&GNAS:N1014N&GNAS:N312N&GNAS:N356N&GNAS:N357N&GNAS:N371N&GNAS:N372N;CSQ_CADD_PHRED=11.87 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,16:157:0.10191:65:-100:0.1649:2,7,1,3,2,1,29,49,14,35,6,24:100:100 +20 62331839 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001134758.4;CSQ_HGVSc=NM_001134758.4:c.*111G>A;CSQ_HGVSp=.;CSQ_HGVSg=20:g.62331839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=3.2329e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=244020;CSQ_gnomADe_AF=9.01565e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356;CSQ_COSMICncMuts=COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,8:176:0.04545:65:-95.1685:0.1889:3,3,0,1,0,1,26,68,10,28,12,32:77.19:100 +20 62331839 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001267544.3;CSQ_HGVSc=NM_001267544.3:c.*196G>A;CSQ_HGVSp=.;CSQ_HGVSg=20:g.62331839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=3.2329e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=244020;CSQ_gnomADe_AF=9.01565e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356;CSQ_COSMICncMuts=COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,8:176:0.04545:65:-95.1685:0.1889:3,3,0,1,0,1,26,68,10,28,12,32:77.19:100 +20 62331839 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001267546.3;CSQ_HGVSc=NM_001267546.3:c.421G>A;CSQ_HGVSp=NP_001254475.1:p.Val141Met;CSQ_HGVSg=20:g.62331839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=3.2329e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=244020;CSQ_gnomADe_AF=9.01565e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356;CSQ_COSMICncMuts=COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=0.311;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,8:176:0.04545:65:-95.1685:0.1889:3,3,0,1,0,1,26,68,10,28,12,32:77.19:100 +20 62331839 . C T 100 PASS DP=176;CSQ_Allele=T;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_001267548.3;CSQ_HGVSc=NM_001267548.3:c.562G>A;CSQ_HGVSp=NP_001254477.1:p.Val188Met;CSQ_HGVSg=20:g.62331839C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=3.2329e-05;CSQ_gnomADe_AC=22;CSQ_gnomADe_AN=244020;CSQ_gnomADe_AF=9.01565e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356;CSQ_COSMICncMuts=COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356&COSV53926356;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=37;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=0.311;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:168,8:176:0.04545:65:-95.1685:0.1889:3,3,0,1,0,1,26,68,10,28,12,32:77.19:100 +20 62331989 . T G 100 PASS DP=196;CSQ_Allele=G;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001134758.4;CSQ_HGVSc=NM_001134758.4:c.483A>C;CSQ_HGVSp=NP_001128230.1:p.Arg161%3D;CSQ_HGVSg=20:g.62331989T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6106;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.19772;CSQ_gnomADe_AC=60575;CSQ_gnomADe_AN=243774;CSQ_gnomADe_AF=0.248488;CSQ_gnomADe_Hom=9287;CSQ_COSMICcMuts=COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154;CSQ_COSMICncMuts=COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ARFRP1:3UTR&ARFRP1:R114R&ARFRP1:R161R;CSQ_CADD_PHRED=1.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,61:196:0.31122:65:-100:0.1009:7,19,8,13,4,10,33,56,26,35,11,35:100:100 +20 62331989 . T G 100 PASS DP=196;CSQ_Allele=G;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=7/7;CSQ_INTRON=.;CSQ_Feature=NM_001267544.3;CSQ_HGVSc=NM_001267544.3:c.*46A>C;CSQ_HGVSp=.;CSQ_HGVSg=20:g.62331989T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6106;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.19772;CSQ_gnomADe_AC=60575;CSQ_gnomADe_AN=243774;CSQ_gnomADe_AF=0.248488;CSQ_gnomADe_Hom=9287;CSQ_COSMICcMuts=COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154;CSQ_COSMICncMuts=COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,61:196:0.31122:65:-100:0.1009:7,19,8,13,4,10,33,56,26,35,11,35:100:100 +20 62331989 . T G 100 PASS DP=196;CSQ_Allele=G;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/7;CSQ_INTRON=.;CSQ_Feature=NM_001267546.3;CSQ_HGVSc=NM_001267546.3:c.342A>C;CSQ_HGVSp=NP_001254475.1:p.Arg114%3D;CSQ_HGVSg=20:g.62331989T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6106;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.19772;CSQ_gnomADe_AC=60575;CSQ_gnomADe_AN=243774;CSQ_gnomADe_AF=0.248488;CSQ_gnomADe_Hom=9287;CSQ_COSMICcMuts=COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154;CSQ_COSMICncMuts=COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ARFRP1:3UTR&ARFRP1:R114R&ARFRP1:R161R;CSQ_CADD_PHRED=1.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,61:196:0.31122:65:-100:0.1009:7,19,8,13,4,10,33,56,26,35,11,35:100:100 +20 62331989 . T G 100 PASS DP=196;CSQ_Allele=G;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/8;CSQ_INTRON=.;CSQ_Feature=NM_001267548.3;CSQ_HGVSc=NM_001267548.3:c.483A>C;CSQ_HGVSp=NP_001254477.1:p.Arg161%3D;CSQ_HGVSg=20:g.62331989T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6106;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.19772;CSQ_gnomADe_AC=60575;CSQ_gnomADe_AN=243774;CSQ_gnomADe_AF=0.248488;CSQ_gnomADe_Hom=9287;CSQ_COSMICcMuts=COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154;CSQ_COSMICncMuts=COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154&COSV53926154;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=38;CSQ_SpliceAI_pred_DP_DG=-35;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ARFRP1:3UTR&ARFRP1:R114R&ARFRP1:R161R;CSQ_CADD_PHRED=1.085 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:135,61:196:0.31122:65:-100:0.1009:7,19,8,13,4,10,33,56,26,35,11,35:100:100 +20 62333536 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_001134758.4;CSQ_HGVSc=NM_001134758.4:c.298A>G;CSQ_HGVSp=NP_001128230.1:p.Ile100Val;CSQ_HGVSg=20:g.62333536T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=244908;CSQ_gnomADe_AF=4.08317e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=0.266;CSQ_Mastermind_MMID3=ARFRP1:I100V;CSQ_CADD_PHRED=17.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,11:152:0.07237:65:-100:0.1828:1,3,0,1,4,2,29,44,6,33,15,25:100:100 +20 62333536 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/7;CSQ_INTRON=.;CSQ_Feature=NM_001267544.3;CSQ_HGVSc=NM_001267544.3:c.298A>G;CSQ_HGVSp=NP_001254473.1:p.Ile100Val;CSQ_HGVSg=20:g.62333536T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=244908;CSQ_gnomADe_AF=4.08317e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=0.266;CSQ_Mastermind_MMID3=ARFRP1:I100V;CSQ_CADD_PHRED=17.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,11:152:0.07237:65:-100:0.1828:1,3,0,1,4,2,29,44,6,33,15,25:100:100 +20 62333536 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/7;CSQ_INTRON=.;CSQ_Feature=NM_001267546.3;CSQ_HGVSc=NM_001267546.3:c.157A>G;CSQ_HGVSp=NP_001254475.1:p.Ile53Val;CSQ_HGVSg=20:g.62333536T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=244908;CSQ_gnomADe_AF=4.08317e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=0.266;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,11:152:0.07237:65:-100:0.1828:1,3,0,1,4,2,29,44,6,33,15,25:100:100 +20 62333536 . T C 100 PASS DP=152;CSQ_Allele=C;CSQ_SYMBOL=ARFRP1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=5/8;CSQ_INTRON=.;CSQ_Feature=NM_001267548.3;CSQ_HGVSc=NM_001267548.3:c.298A>G;CSQ_HGVSp=NP_001254477.1:p.Ile100Val;CSQ_HGVSg=20:g.62333536T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=244908;CSQ_gnomADe_AF=4.08317e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=0.266;CSQ_Mastermind_MMID3=ARFRP1:I100V;CSQ_CADD_PHRED=17.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,11:152:0.07237:65:-100:0.1828:1,3,0,1,4,2,29,44,6,33,15,25:100:100 +21 36164486 . G C 100 PASS DP=47;CSQ_Allele=C;CSQ_SYMBOL=RUNX1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/6;CSQ_INTRON=.;CSQ_Feature=NM_001001890.3;CSQ_HGVSc=NM_001001890.3:c.1308C>G;CSQ_HGVSp=NP_001001890.1:p.Pro436%3D;CSQ_HGVSg=21:g.36164486G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258184;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1¬_specified¬_provided;CSQ_gnomADg_AC=1288;CSQ_gnomADg_AN=30570;CSQ_gnomADg_AF=0.0421328;CSQ_gnomADe_AC=4117;CSQ_gnomADe_AN=132770;CSQ_gnomADe_AF=0.0310085;CSQ_gnomADe_Hom=134;CSQ_COSMICcMuts=COSV105879017&COSV105879017&COSV105879017&COSV105879017&COSV105879017;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1:P436P&RUNX1:P463P;CSQ_CADD_PHRED=9.573 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,6:47:0.12766:65:-100:0.0408:2,1,0,0,3,0,16,7,4,4,14,2:89.553:100 +21 36164486 . G C 100 PASS DP=47;CSQ_Allele=C;CSQ_SYMBOL=RUNX1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001754.5;CSQ_HGVSc=NM_001754.5:c.1389C>G;CSQ_HGVSp=NP_001745.2:p.Pro463%3D;CSQ_HGVSg=21:g.36164486G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=258184;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1¬_specified¬_provided;CSQ_gnomADg_AC=1288;CSQ_gnomADg_AN=30570;CSQ_gnomADg_AF=0.0421328;CSQ_gnomADe_AC=4117;CSQ_gnomADe_AN=132770;CSQ_gnomADe_AF=0.0310085;CSQ_gnomADe_Hom=134;CSQ_COSMICcMuts=COSV105879017&COSV105879017&COSV105879017&COSV105879017&COSV105879017;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-31;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1:P436P&RUNX1:P463P;CSQ_CADD_PHRED=9.573 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,6:47:0.12766:65:-100:0.0408:2,1,0,0,3,0,16,7,4,4,14,2:89.553:100 +21 36206521 . G A 100 PASS DP=80;CSQ_Allele=A;CSQ_SYMBOL=RUNX1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/5;CSQ_Feature=NM_001001890.3;CSQ_HGVSc=NM_001001890.3:c.724+186C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.36206521G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1255350;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1081;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0349612;CSQ_gnomADe_AC=2945;CSQ_gnomADe_AN=132106;CSQ_gnomADe_AF=0.0222927;CSQ_gnomADe_Hom=60;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1:D269int&RUNX1:D269intd;CSQ_CADD_PHRED=0.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,24:80:0.3:65:-100:0.375:2,11,2,7,0,2,11,29,12,16,2,10:100:100 +21 36206521 . G A 100 PASS DP=80;CSQ_Allele=A;CSQ_SYMBOL=RUNX1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/4;CSQ_Feature=NM_001122607.2;CSQ_HGVSc=NM_001122607.2:c.724+186C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.36206521G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1255350;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1081;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0349612;CSQ_gnomADe_AC=2945;CSQ_gnomADe_AN=132106;CSQ_gnomADe_AF=0.0222927;CSQ_gnomADe_Hom=60;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1:D269int&RUNX1:D269intd;CSQ_CADD_PHRED=0.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,24:80:0.3:65:-100:0.375:2,11,2,7,0,2,11,29,12,16,2,10:100:100 +21 36206521 . G A 100 PASS DP=80;CSQ_Allele=A;CSQ_SYMBOL=RUNX1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/8;CSQ_Feature=NM_001754.5;CSQ_HGVSc=NM_001754.5:c.805+186C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.36206521G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1255350;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1081;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0349612;CSQ_gnomADe_AC=2945;CSQ_gnomADe_AN=132106;CSQ_gnomADe_AF=0.0222927;CSQ_gnomADe_Hom=60;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-26;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=RUNX1:D269int&RUNX1:D269intd;CSQ_CADD_PHRED=0.939 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:56,24:80:0.3:65:-100:0.375:2,11,2,7,0,2,11,29,12,16,2,10:100:100 +21 36206711 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=RUNX1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/6;CSQ_INTRON=.;CSQ_Feature=NM_001001890.3;CSQ_HGVSc=NM_001001890.3:c.720G>A;CSQ_HGVSp=NP_001001890.1:p.Met240Ile;CSQ_HGVSg=21:g.36206711C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=409818;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=10;CSQ_gnomADe_AN=243508;CSQ_gnomADe_AF=4.10664e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55866591&COSV55866591&COSV55866591&COSV55866591&COSV55866591&COSV55866591;CSQ_COSMICncMuts=COSV55866591;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.283;CSQ_Mastermind_MMID3=RUNX1:M240I&RUNX1:M267I;CSQ_CADD_PHRED=15.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,6:119:0.05042:65:-100:0.1439:0,2,2,0,0,2,12,43,11,19,15,19:73.833:100 +21 36206711 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=RUNX1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/5;CSQ_INTRON=.;CSQ_Feature=NM_001122607.2;CSQ_HGVSc=NM_001122607.2:c.720G>A;CSQ_HGVSp=NP_001116079.1:p.Met240Ile;CSQ_HGVSg=21:g.36206711C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=409818;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=10;CSQ_gnomADe_AN=243508;CSQ_gnomADe_AF=4.10664e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55866591&COSV55866591&COSV55866591&COSV55866591&COSV55866591&COSV55866591;CSQ_COSMICncMuts=COSV55866591;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.283;CSQ_Mastermind_MMID3=RUNX1:M240I&RUNX1:M267I;CSQ_CADD_PHRED=15.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,6:119:0.05042:65:-100:0.1439:0,2,2,0,0,2,12,43,11,19,15,19:73.833:100 +21 36206711 . C T 100 PASS DP=119;CSQ_Allele=T;CSQ_SYMBOL=RUNX1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=7/9;CSQ_INTRON=.;CSQ_Feature=NM_001754.5;CSQ_HGVSc=NM_001754.5:c.801G>A;CSQ_HGVSp=NP_001745.2:p.Met267Ile;CSQ_HGVSg=21:g.36206711C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=409818;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=10;CSQ_gnomADe_AN=243508;CSQ_gnomADe_AF=4.10664e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV55866591&COSV55866591&COSV55866591&COSV55866591&COSV55866591&COSV55866591;CSQ_COSMICncMuts=COSV55866591;CSQ_CGC=oncogene&TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=14;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.283;CSQ_Mastermind_MMID3=RUNX1:M240I&RUNX1:M267I;CSQ_CADD_PHRED=15.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,6:119:0.05042:65:-100:0.1439:0,2,2,0,0,2,12,43,11,19,15,19:73.833:100 +21 39751955 . G A 100 PASS DP=81;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.*3370C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39751955G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4985;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.161045;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,10:81:0.12346:65:-52.2125:0.1818:1,5,0,0,0,4,8,33,6,12,7,15:96.422:100 +21 39751955 . G A 100 PASS DP=81;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.*3370C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39751955G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4985;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.161045;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,10:81:0.12346:65:-52.2125:0.1818:1,5,0,0,0,4,8,33,6,12,7,15:96.422:100 +21 39751955 . G A 100 PASS DP=81;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.940+10962C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39751955G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4985;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.161045;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:3UTR&ERG:G314int&ERG:G314intd;CSQ_CADD_PHRED=1.076 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,10:81:0.12346:65:-52.2125:0.1818:1,5,0,0,0,4,8,33,6,12,7,15:96.422:100 +21 39752673 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.*2652G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39752673C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9882;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.319868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.096 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,32:123:0.26016:65:-100:0.1151:6,11,1,5,4,5,22,43,14,17,10,17:100:100 +21 39752673 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.*2652G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39752673C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9882;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.319868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.096 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,32:123:0.26016:65:-100:0.1151:6,11,1,5,4,5,22,43,14,17,10,17:100:100 +21 39752673 . C T 100 PASS DP=123;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.940+10244G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39752673C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9882;CSQ_gnomADg_AN=30894;CSQ_gnomADg_AF=0.319868;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:3UTR&ERG:G314int&ERG:G314intd;CSQ_CADD_PHRED=0.096 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,32:123:0.26016:65:-100:0.1151:6,11,1,5,4,5,22,43,14,17,10,17:100:100 +21 39752721 . GAATAT G 100 PASS DP=124;CSQ_Allele=-;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.*2599_*2603del;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39752722_39752726del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9720;CSQ_gnomADg_AN=30780;CSQ_gnomADg_AF=0.315789;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528;CSQ_COSMICncMuts=COSV55728528&COSV55728528;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,25:124:0.20161:65:-100:0:4,11,2,2,4,2,14,59,9,21,12,10:100:100 +21 39752721 . GAATAT G 100 PASS DP=124;CSQ_Allele=-;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.*2599_*2603del;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39752722_39752726del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9720;CSQ_gnomADg_AN=30780;CSQ_gnomADg_AF=0.315789;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528;CSQ_COSMICncMuts=COSV55728528&COSV55728528;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,25:124:0.20161:65:-100:0:4,11,2,2,4,2,14,59,9,21,12,10:100:100 +21 39752721 . GAATAT G 100 PASS DP=124;CSQ_Allele=-;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.940+10191_940+10195del;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39752722_39752726del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9720;CSQ_gnomADg_AN=30780;CSQ_gnomADg_AF=0.315789;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528&COSV55728528;CSQ_COSMICncMuts=COSV55728528&COSV55728528;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.14 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,25:124:0.20161:65:-100:0:4,11,2,2,4,2,14,59,9,21,12,10:100:100 +21 39753282 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.*2043A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753282T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=326;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.0105209;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.063 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,14:114:0.12281:65:-100:0.1857:2,2,2,1,2,5,17,38,8,17,10,24:100:100 +21 39753282 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.*2043A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753282T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=326;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.0105209;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.063 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,14:114:0.12281:65:-100:0.1857:2,2,2,1,2,5,17,38,8,17,10,24:100:100 +21 39753282 . T C 100 PASS DP=114;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.940+9635A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753282T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=326;CSQ_gnomADg_AN=30986;CSQ_gnomADg_AF=0.0105209;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.063 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,14:114:0.12281:65:-100:0.1857:2,2,2,1,2,5,17,38,8,17,10,24:100:100 +21 39753346 . A C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.*1979T>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753346A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4878;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.15766;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.150 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,16:130:0.12308:65:-100:0.1275:2,5,0,4,2,3,23,51,8,15,11,22:100:100 +21 39753346 . A C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.*1979T>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753346A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4878;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.15766;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.150 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,16:130:0.12308:65:-100:0.1275:2,5,0,4,2,3,23,51,8,15,11,22:100:100 +21 39753346 . A C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.940+9571T>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753346A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4878;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.15766;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=4;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.150 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,16:130:0.12308:65:-100:0.1275:2,5,0,4,2,3,23,51,8,15,11,22:100:100 +21 39753375 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=12/12;CSQ_INTRON=.;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.*1950A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753375T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10146;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.328307;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,30:119:0.2521:65:-100:0.162:4,11,0,6,3,6,27,45,3,17,11,16:100:100 +21 39753375 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=9/9;CSQ_INTRON=.;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.*1950A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753375T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10146;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.328307;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,30:119:0.2521:65:-100:0.162:4,11,0,6,3,6,27,45,3,17,11,16:100:100 +21 39753375 . T C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=11/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.940+9542A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39753375T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10146;CSQ_gnomADg_AN=30904;CSQ_gnomADg_AF=0.328307;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:3UTR&ERG:G314int&ERG:G314intd;CSQ_CADD_PHRED=3.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,30:119:0.2521:65:-100:0.162:4,11,0,6,3,6,27,45,3,17,11,16:100:100 +21 39772184 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/11;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.766+312G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39772184C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.041 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,15:121:0.12397:65:-100:0.1597:2,5,0,6,0,2,22,42,7,26,5,19:100:100 +21 39772184 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/8;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.469+312G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39772184C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.041 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,15:121:0.12397:65:-100:0.1597:2,5,0,6,0,2,22,42,7,26,5,19:100:100 +21 39772184 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.766+312G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39772184C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.041 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,15:121:0.12397:65:-100:0.1597:2,5,0,6,0,2,22,42,7,26,5,19:100:100 +21 39772184 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=8/8;CSQ_INTRON=.;CSQ_Feature=NM_001291391.1;CSQ_HGVSc=NM_001291391.1:c.*100G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39772184C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.041 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,15:121:0.12397:65:-100:0.1597:2,5,0,6,0,2,22,42,7,26,5,19:100:100 +21 39775468 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.573C>T;CSQ_HGVSp=NP_001129626.1:p.Asn191%3D;CSQ_HGVSg=21:g.39775468G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=660;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0213206;CSQ_gnomADe_AC=5971;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0.0242475;CSQ_gnomADe_Hom=100;CSQ_COSMICcMuts=COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932;CSQ_COSMICncMuts=COSV55732932;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:N184N&ERG:N191N&ERG:N92N;CSQ_CADD_PHRED=0.157 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,21:130:0.16154:65:-100:0.1503:2,8,1,5,0,5,23,48,6,26,10,17:100:100 +21 39775468 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/9;CSQ_INTRON=.;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.276C>T;CSQ_HGVSp=NP_001129627.1:p.Asn92%3D;CSQ_HGVSg=21:g.39775468G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=660;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0213206;CSQ_gnomADe_AC=5971;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0.0242475;CSQ_gnomADe_Hom=100;CSQ_COSMICcMuts=COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932;CSQ_COSMICncMuts=COSV55732932;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:N184N&ERG:N191N&ERG:N92N;CSQ_CADD_PHRED=0.157 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,21:130:0.16154:65:-100:0.1503:2,8,1,5,0,5,23,48,6,26,10,17:100:100 +21 39775468 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/12;CSQ_INTRON=.;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.573C>T;CSQ_HGVSp=NP_001230361.1:p.Asn191%3D;CSQ_HGVSg=21:g.39775468G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=660;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0213206;CSQ_gnomADe_AC=5971;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0.0242475;CSQ_gnomADe_Hom=100;CSQ_COSMICcMuts=COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932;CSQ_COSMICncMuts=COSV55732932;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:N184N&ERG:N191N&ERG:N92N;CSQ_CADD_PHRED=0.157 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,21:130:0.16154:65:-100:0.1503:2,8,1,5,0,5,23,48,6,26,10,17:100:100 +21 39775468 . G A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/8;CSQ_INTRON=.;CSQ_Feature=NM_001291391.1;CSQ_HGVSc=NM_001291391.1:c.573C>T;CSQ_HGVSp=NP_001278320.1:p.Asn191%3D;CSQ_HGVSg=21:g.39775468G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=660;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.0213206;CSQ_gnomADe_AC=5971;CSQ_gnomADe_AN=246252;CSQ_gnomADe_AF=0.0242475;CSQ_gnomADe_Hom=100;CSQ_COSMICcMuts=COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932&COSV55732932;CSQ_COSMICncMuts=COSV55732932;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:N184N&ERG:N191N&ERG:N92N;CSQ_CADD_PHRED=0.157 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,21:130:0.16154:65:-100:0.1503:2,8,1,5,0,5,23,48,6,26,10,17:100:100 +21 39843083 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/11;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.40-25539C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843083G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3615;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.116779;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.922 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1538:2,7,1,3,1,2,24,34,13,15,12,23:100:100 +21 39843083 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/8;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.-41+27204C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843083G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3615;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.116779;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.922 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1538:2,7,1,3,1,2,24,34,13,15,12,23:100:100 +21 39843083 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.40-25539C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843083G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3615;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.116779;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.922 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1538:2,7,1,3,1,2,24,34,13,15,12,23:100:100 +21 39843083 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/7;CSQ_Feature=NM_001291391.1;CSQ_HGVSc=NM_001291391.1:c.40-25539C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843083G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3615;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.116779;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.922 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1538:2,7,1,3,1,2,24,34,13,15,12,23:100:100 +21 39843083 . G A 100 PASS DP=121;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NR_111949.2;CSQ_HGVSc=NR_111949.2:n.1330C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843083G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3615;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.116779;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=39;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.922 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,16:121:0.13223:65:-100:0.1538:2,7,1,3,1,2,24,34,13,15,12,23:100:100 +21 39843236 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/11;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.40-25692C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843236G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,19:133:0.14286:65:-100:0.1014:2,9,2,1,1,4,14,45,12,20,13,29:100:100 +21 39843236 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/8;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.-41+27051C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843236G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,19:133:0.14286:65:-100:0.1014:2,9,2,1,1,4,14,45,12,20,13,29:100:100 +21 39843236 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.40-25692C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843236G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,19:133:0.14286:65:-100:0.1014:2,9,2,1,1,4,14,45,12,20,13,29:100:100 +21 39843236 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/7;CSQ_Feature=NM_001291391.1;CSQ_HGVSc=NM_001291391.1:c.40-25692C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843236G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,19:133:0.14286:65:-100:0.1014:2,9,2,1,1,4,14,45,12,20,13,29:100:100 +21 39843236 . G A 100 PASS DP=133;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NR_111949.2;CSQ_HGVSc=NR_111949.2:n.1177C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843236G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-11;CSQ_SpliceAI_pred_DP_AL=10;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,19:133:0.14286:65:-100:0.1014:2,9,2,1,1,4,14,45,12,20,13,29:100:100 +21 39843392 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/11;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.40-25848G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843392C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.757602;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:K13int&ERG:K13inta&ERG:K6int&ERG:K6inta;CSQ_CADD_PHRED=0.016 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,72:106:0.67925:65:-100:0.1167:7,19,5,12,8,21,14,31,10,16,10,25:100:100 +21 39843392 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/8;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.-41+26895G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843392C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.757602;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:K13int&ERG:K13inta&ERG:K6int&ERG:K6inta;CSQ_CADD_PHRED=0.016 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,72:106:0.67925:65:-100:0.1167:7,19,5,12,8,21,14,31,10,16,10,25:100:100 +21 39843392 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.40-25848G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843392C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.757602;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:K13int&ERG:K13inta&ERG:K6int&ERG:K6inta;CSQ_CADD_PHRED=0.016 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,72:106:0.67925:65:-100:0.1167:7,19,5,12,8,21,14,31,10,16,10,25:100:100 +21 39843392 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/7;CSQ_Feature=NM_001291391.1;CSQ_HGVSc=NM_001291391.1:c.40-25848G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843392C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.757602;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:K13int&ERG:K13inta&ERG:K6int&ERG:K6inta;CSQ_CADD_PHRED=0.016 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,72:106:0.67925:65:-100:0.1167:7,19,5,12,8,21,14,31,10,16,10,25:100:100 +21 39843392 . C T 100 PASS DP=106;CSQ_Allele=T;CSQ_SYMBOL=ERG;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=5/5;CSQ_INTRON=.;CSQ_Feature=NR_111949.2;CSQ_HGVSc=NR_111949.2:n.1021G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39843392C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23419;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.757602;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.016 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:34,72:106:0.67925:65:-100:0.1167:7,19,5,12,8,21,14,31,10,16,10,25:100:100 +21 39870310 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/11;CSQ_Feature=NM_001136154.1;CSQ_HGVSc=NM_001136154.1:c.40-52766C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39870310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27473;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.887543;CSQ_gnomADe_AC=208176;CSQ_gnomADe_AN=240302;CSQ_gnomADe_AF=0.86631;CSQ_gnomADe_Hom=90513;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,107:125:0.856:65:-100:0.1135:20,37,8,10,10,22,24,40,8,15,12,26:100:100 +21 39870310 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001136155.1;CSQ_HGVSc=NM_001136155.1:c.-64C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39870310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27473;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.887543;CSQ_gnomADe_AC=208176;CSQ_gnomADe_AN=240302;CSQ_gnomADe_AF=0.86631;CSQ_gnomADe_Hom=90513;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ERG:5UTR;CSQ_CADD_PHRED=17.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,107:125:0.856:65:-100:0.1135:20,37,8,10,10,22,24,40,8,15,12,26:100:100 +21 39870310 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/11;CSQ_Feature=NM_001243432.2;CSQ_HGVSc=NM_001243432.2:c.40-52766C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39870310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27473;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.887543;CSQ_gnomADe_AC=208176;CSQ_gnomADe_AN=240302;CSQ_gnomADe_AF=0.86631;CSQ_gnomADe_Hom=90513;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,107:125:0.856:65:-100:0.1135:20,37,8,10,10,22,24,40,8,15,12,26:100:100 +21 39870310 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/7;CSQ_Feature=NM_001291391.1;CSQ_HGVSc=NM_001291391.1:c.40-52766C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39870310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27473;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.887543;CSQ_gnomADe_AC=208176;CSQ_gnomADe_AN=240302;CSQ_gnomADe_AF=0.86631;CSQ_gnomADe_Hom=90513;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,107:125:0.856:65:-100:0.1135:20,37,8,10,10,22,24,40,8,15,12,26:100:100 +21 39870310 . G A 100 PASS DP=125;CSQ_Allele=A;CSQ_SYMBOL=ERG;CSQ_Consequence=intron_variant&non_coding_transcript_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/4;CSQ_Feature=NR_111949.2;CSQ_HGVSc=NR_111949.2:n.315-24266C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.39870310G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27473;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.887543;CSQ_gnomADe_AC=208176;CSQ_gnomADe_AN=240302;CSQ_gnomADe_AF=0.86631;CSQ_gnomADe_Hom=90513;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.04;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=50;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.29 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:18,107:125:0.856:65:-100:0.1135:20,37,8,10,10,22,24,40,8,15,12,26:100:100 +21 42836476 . A G 100 PASS DP=74;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=downstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836476A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22430;CSQ_gnomADg_AN=30246;CSQ_gnomADg_AF=0.741586;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,49:74:0.66216:65:-100:0.1868:6,17,7,6,4,9,9,29,8,8,6,14:100:100 +21 42836476 . A G 100 PASS DP=74;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*1593T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836476A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22430;CSQ_gnomADg_AN=30246;CSQ_gnomADg_AF=0.741586;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.211 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:25,49:74:0.66216:65:-100:0.1868:6,17,7,6,4,9,9,29,8,8,6,14:100:100 +21 42836496 . T C 100 PASS DP=87;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*1573A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22450;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.725692;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=3.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,55:87:0.63218:65:-100:0.1714:7,19,6,7,5,11,13,34,7,9,8,16:100:100 +21 42836496 . T C 100 PASS DP=87;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*1573A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836496T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22450;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.725692;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=-14;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=3.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,55:87:0.63218:65:-100:0.1714:7,19,6,7,5,11,13,34,7,9,8,16:100:100 +21 42836685 . A T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*1384T>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836685A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4127;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.133335;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=3.960 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,7:137:0.05109:65:-97.0235:0.1274:2,1,0,2,1,1,23,43,14,23,6,28:83.743:100 +21 42836685 . A T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*1384T>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836685A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4127;CSQ_gnomADg_AN=30952;CSQ_gnomADg_AF=0.133335;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=3.960 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,7:137:0.05109:65:-97.0235:0.1274:2,1,0,2,1,1,23,43,14,23,6,28:83.743:100 +21 42836729 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*1340T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836729A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27647;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.893164;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=1.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,106:130:0.81538:65:-100:0.2073:15,39,8,22,9,13,19,43,8,31,10,19:100:100 +21 42836729 . A G 100 PASS DP=130;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*1340T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836729A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=27647;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.893164;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=1.857 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:24,106:130:0.81538:65:-100:0.2073:15,39,8,22,9,13,19,43,8,31,10,19:100:100 +21 42836751 . T A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*1318A>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836751T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22447;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.725876;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=4.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,88:128:0.6875:65:-100:0.195:13,34,7,17,8,9,20,43,10,28,9,18:100:100 +21 42836751 . T A 100 PASS DP=128;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*1318A>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836751T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22447;CSQ_gnomADg_AN=30924;CSQ_gnomADg_AF=0.725876;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=4.480 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:40,88:128:0.6875:65:-100:0.195:13,34,7,17,8,9,20,43,10,28,9,18:100:100 +21 42836967 . G A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*1102C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836967G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=925;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0298831;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.728 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,8:114:0.07018:65:-100:0.1799:0,4,0,2,0,2,17,36,8,22,11,20:82.603:100 +21 42836967 . G A 100 PASS DP=114;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*1102C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42836967G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=925;CSQ_gnomADg_AN=30954;CSQ_gnomADg_AF=0.0298831;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.728 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,8:114:0.07018:65:-100:0.1799:0,4,0,2,0,2,17,36,8,22,11,20:82.603:100 +21 42837017 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*1052T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42837017A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.081 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,13:134:0.09701:65:-100:0.1572:4,2,0,4,2,1,24,46,9,25,9,21:100:100 +21 42837017 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*1052T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42837017A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=-16;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.081 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,13:134:0.09701:65:-100:0.1572:4,2,0,4,2,1,24,46,9,25,9,21:100:100 +21 42837534 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*535C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42837534G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4127;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.133404;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=10.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,11:140:0.07857:65:-100:0.1304:2,4,1,1,1,2,24,52,9,21,10,24:100:100 +21 42837534 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*535C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42837534G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4127;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.133404;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=10.89 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,11:140:0.07857:65:-100:0.1304:2,4,1,1,1,2,24,52,9,21,10,24:100:100 +21 42837691 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*378G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42837691C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=368;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0118932;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=4.224 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,8:136:0.05882:65:-100:0.1905:4,1,1,1,0,1,20,51,13,18,7,27:92.063:100 +21 42837691 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*378G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42837691C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=368;CSQ_gnomADg_AN=30942;CSQ_gnomADg_AF=0.0118932;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=4;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:3UTR;CSQ_CADD_PHRED=4.224 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,8:136:0.05882:65:-100:0.1905:4,1,1,1,0,1,20,51,13,18,7,27:92.063:100 +21 42837951 . TG T 100 PASS DP=160;CSQ_Allele=-;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.*117del;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42837952del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1362;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.044015;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.274 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0:2,6,2,2,2,3,23,57,11,26,9,34:100:100 +21 42837951 . TG T 100 PASS DP=160;CSQ_Allele=-;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=14/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.*117del;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42837952del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1362;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.044015;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=34;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=22;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.274 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,17:160:0.10625:65:-100:0:2,6,2,2,2,3,23,57,11,26,9,34:100:100 +21 42845374 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.888C>T;CSQ_HGVSp=NP_001128571.1:p.Gly296%3D;CSQ_HGVSg=21:g.42845374G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7644;CSQ_gnomADg_AN=30812;CSQ_gnomADg_AF=0.248085;CSQ_gnomADe_AC=56371;CSQ_gnomADe_AN=236132;CSQ_gnomADe_AF=0.238727;CSQ_gnomADe_Hom=7106;CSQ_COSMICcMuts=COSV59827953&COSV59827953&COSV59827953;CSQ_COSMICncMuts=COSV59827953;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:G259G&TMPRSS2:G296G;CSQ_CADD_PHRED=0.713 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,32:108:0.2963:65:-100:0.188:6,10,4,4,5,3,16,35,8,14,15,20:100:100 +21 42845374 . G A 100 PASS DP=108;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.777C>T;CSQ_HGVSp=NP_005647.3:p.Gly259%3D;CSQ_HGVSg=21:g.42845374G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7644;CSQ_gnomADg_AN=30812;CSQ_gnomADg_AF=0.248085;CSQ_gnomADe_AC=56371;CSQ_gnomADe_AN=236132;CSQ_gnomADe_AF=0.238727;CSQ_gnomADe_Hom=7106;CSQ_COSMICcMuts=COSV59827953&COSV59827953&COSV59827953;CSQ_COSMICncMuts=COSV59827953;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=2;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:G259G&TMPRSS2:G296G;CSQ_CADD_PHRED=0.713 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,32:108:0.2963:65:-100:0.188:6,10,4,4,5,3,16,35,8,14,15,20:100:100 +21 42845383 . A G 100 PASS DP=110;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.879T>C;CSQ_HGVSp=NP_001128571.1:p.Ile293%3D;CSQ_HGVSg=21:g.42845383A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14560;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.472237;CSQ_gnomADe_AC=112106;CSQ_gnomADe_AN=236396;CSQ_gnomADe_AF=0.47423;CSQ_gnomADe_Hom=28152;CSQ_COSMICcMuts=COSV59823030&COSV59823030&COSV59823030;CSQ_COSMICncMuts=COSV59823030;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:I256I&TMPRSS2:I293I;CSQ_CADD_PHRED=1.978 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,60:110:0.54545:65:-100:0.1603:6,17,6,7,9,15,17,32,11,10,14,26:100:100 +21 42845383 . A G 100 PASS DP=110;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=9/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.768T>C;CSQ_HGVSp=NP_005647.3:p.Ile256%3D;CSQ_HGVSg=21:g.42845383A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=14560;CSQ_gnomADg_AN=30832;CSQ_gnomADg_AF=0.472237;CSQ_gnomADe_AC=112106;CSQ_gnomADe_AN=236396;CSQ_gnomADe_AF=0.47423;CSQ_gnomADe_Hom=28152;CSQ_COSMICcMuts=COSV59823030&COSV59823030&COSV59823030;CSQ_COSMICncMuts=COSV59823030;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=40;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:I256I&TMPRSS2:I293I;CSQ_CADD_PHRED=1.978 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,60:110:0.54545:65:-100:0.1603:6,17,6,7,9,15,17,32,11,10,14,26:100:100 +21 42852497 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.589G>A;CSQ_HGVSp=NP_001128571.1:p.Val197Met;CSQ_HGVSg=21:g.42852497C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1257425;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8668;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.280663;CSQ_gnomADe_AC=60284;CSQ_gnomADe_AN=245874;CSQ_gnomADe_AF=0.245182;CSQ_gnomADe_Hom=8117;CSQ_COSMICcMuts=COSV59820912&COSV59820912&COSV59820912;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.281;CSQ_Mastermind_MMID3=TMPRSS2:V160M&TMPRSS2:V197M;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,57:136:0.41912:65:-100:0.15:13,18,5,10,5,6,29,39,17,20,11,20:100:100 +21 42852497 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.478G>A;CSQ_HGVSp=NP_005647.3:p.Val160Met;CSQ_HGVSg=21:g.42852497C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1257425;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8668;CSQ_gnomADg_AN=30884;CSQ_gnomADg_AF=0.280663;CSQ_gnomADe_AC=60284;CSQ_gnomADe_AN=245874;CSQ_gnomADe_AF=0.245182;CSQ_gnomADe_Hom=8117;CSQ_COSMICcMuts=COSV59820912&COSV59820912&COSV59820912;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.281;CSQ_Mastermind_MMID3=TMPRSS2:V160M&TMPRSS2:V197M;CSQ_CADD_PHRED=24.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,57:136:0.41912:65:-100:0.15:13,18,5,10,5,6,29,39,17,20,11,20:100:100 +21 42860485 . G C 100 PASS DP=149;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.437-45C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42860485G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18897;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.611791;CSQ_gnomADe_AC=127078;CSQ_gnomADe_AN=205536;CSQ_gnomADe_AF=0.618276;CSQ_gnomADe_Hom=40951;CSQ_COSMICcMuts=COSV59823496&COSV59823496&COSV59823496;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.08;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:M109int&TMPRSS2:M109inta&TMPRSS2:M146int&TMPRSS2:M146inta;CSQ_CADD_PHRED=0.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,41:149:0.27517:65:-100:0.1387:8,15,3,5,3,7,39,39,14,20,17,20:100:100 +21 42860485 . G C 100 PASS DP=149;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.326-45C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42860485G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18897;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.611791;CSQ_gnomADe_AC=127078;CSQ_gnomADe_AN=205536;CSQ_gnomADe_AF=0.618276;CSQ_gnomADe_Hom=40951;CSQ_COSMICcMuts=COSV59823496&COSV59823496&COSV59823496;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.08;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=39;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:M109int&TMPRSS2:M109inta&TMPRSS2:M146int&TMPRSS2:M146inta;CSQ_CADD_PHRED=0.515 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,41:149:0.27517:65:-100:0.1387:8,15,3,5,3,7,39,39,14,20,17,20:100:100 +21 42860494 . C G 100 PASS DP=152;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.437-54G>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42860494C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3871;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.125145;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59826644&COSV59826644&COSV59826644;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:M109int&TMPRSS2:M109inta&TMPRSS2:M146int&TMPRSS2:M146inta;CSQ_CADD_PHRED=2.638 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,13:152:0.08553:65:-100:0.1461:2,3,2,3,2,1,36,42,13,24,17,20:100:100 +21 42860494 . C G 100 PASS DP=152;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.326-54G>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42860494C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3871;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.125145;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59826644&COSV59826644&COSV59826644;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.03;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=30;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:M109int&TMPRSS2:M109inta&TMPRSS2:M146int&TMPRSS2:M146inta;CSQ_CADD_PHRED=2.638 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:139,13:152:0.08553:65:-100:0.1461:2,3,2,3,2,1,36,42,13,24,17,20:100:100 +21 42860593 . C T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.437-153G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42860593C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10587;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.342621;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:M109int&TMPRSS2:M109inta&TMPRSS2:M146int&TMPRSS2:M146inta;CSQ_CADD_PHRED=2.794 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,62:101:0.61386:65:-100:0.1789:14,24,7,9,5,3,17,38,10,18,7,11:100:100 +21 42860593 . C T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.326-153G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42860593C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10587;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.342621;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=17;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:M109int&TMPRSS2:M109inta&TMPRSS2:M146int&TMPRSS2:M146inta;CSQ_CADD_PHRED=2.794 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,62:101:0.61386:65:-100:0.1789:14,24,7,9,5,3,17,38,10,18,7,11:100:100 +21 42861111 . G T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.436+323C>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42861111G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.675 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,10:141:0.07092:65:-100:0.1455:1,6,0,1,1,1,24,60,8,21,8,20:100:100 +21 42861111 . G T 100 PASS DP=141;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.325+323C>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42861111G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.675 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:131,10:141:0.07092:65:-100:0.1455:1,6,0,1,1,1,24,60,8,21,8,20:100:100 +21 42861181 . G C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.436+253C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42861181G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10798;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.349586;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:M109int&TMPRSS2:M109intd&TMPRSS2:M146int&TMPRSS2:M146intd;CSQ_CADD_PHRED=2.744 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,80:143:0.55944:65:-100:0.0892:12,35,4,6,4,19,23,58,11,15,7,29:100:100 +21 42861181 . G C 100 PASS DP=143;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.325+253C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42861181G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10798;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.349586;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=21;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:M109int&TMPRSS2:M109intd&TMPRSS2:M146int&TMPRSS2:M146intd;CSQ_CADD_PHRED=2.744 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,80:143:0.55944:65:-100:0.0892:12,35,4,6,4,19,23,58,11,15,7,29:100:100 +21 42862275 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-755A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42862275T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12128;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.392619;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.858 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,78:133:0.58647:65:-100:0.1688:13,25,7,17,5,11,25,42,16,26,11,13:100:100 +21 42862275 . T C 100 PASS DP=133;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-755A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42862275T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12128;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.392619;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=-16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.858 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,78:133:0.58647:65:-100:0.1688:13,25,7,17,5,11,25,42,16,26,11,13:100:100 +21 42862531 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-1011G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42862531C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12298;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.397865;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.303 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,85:150:0.56667:65:-100:0.1329:14,34,7,15,6,9,26,59,11,26,7,21:100:100 +21 42862531 . C T 100 PASS DP=150;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-1011G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42862531C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12298;CSQ_gnomADg_AN=30910;CSQ_gnomADg_AF=0.397865;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-32;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.303 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,85:150:0.56667:65:-100:0.1329:14,34,7,15,6,9,26,59,11,26,7,21:100:100 +21 42862892 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-1372G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42862892C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.00029081;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.047 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,8:136:0.05882:65:-100:0.1111:0,2,1,3,1,1,9,46,9,32,13,27:93.57:100 +21 42862892 . C T 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-1372G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42862892C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.00029081;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-10;CSQ_SpliceAI_pred_DP_AL=22;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.047 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,8:136:0.05882:65:-100:0.1111:0,2,1,3,1,1,9,46,9,32,13,27:93.57:100 +21 42862936 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-1416T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42862936A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12214;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.395993;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.610 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,87:148:0.58784:65:-100:0.1591:15,26,6,19,10,11,22,47,10,33,12,24:100:100 +21 42862936 . A G 100 PASS DP=148;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-1416T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42862936A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=12214;CSQ_gnomADg_AN=30844;CSQ_gnomADg_AF=0.395993;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=48;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.610 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,87:148:0.58784:65:-100:0.1591:15,26,6,19,10,11,22,47,10,33,12,24:100:100 +21 42863050 . T C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-1530A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863050T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=347;CSQ_gnomADg_AN=30738;CSQ_gnomADg_AF=0.011289;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.052 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,6:129:0.04651:65:-100:0.2134:1,1,1,0,0,3,16,34,8,29,13,29:61.126:100 +21 42863050 . T C 100 PASS DP=129;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-1530A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863050T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=347;CSQ_gnomADg_AN=30738;CSQ_gnomADg_AF=0.011289;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=18;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-43;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.052 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:123,6:129:0.04651:65:-100:0.2134:1,1,1,0,0,3,16,34,8,29,13,29:61.126:100 +21 42863178 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-1658T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863178A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29033;CSQ_gnomADg_AN=30362;CSQ_gnomADg_AF=0.956228;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.265 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:14,106:120:0.88333:65:-100:0.1837:22,31,8,18,4,23,24,34,9,21,4,28:100:100 +21 42863178 . A G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-1658T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863178A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29033;CSQ_gnomADg_AN=30362;CSQ_gnomADg_AF=0.956228;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-49;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.265 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:14,106:120:0.88333:65:-100:0.1837:22,31,8,18,4,23,24,34,9,21,4,28:100:100 +21 42863320 . C A 100 PASS DP=95;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-1800G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863320C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10256;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.33329;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.227 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,30:95:0.31579:65:-100:0.1518:1,13,2,9,3,2,7,33,8,17,12,18:100:100 +21 42863320 . C A 100 PASS DP=95;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-1800G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863320C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10256;CSQ_gnomADg_AN=30772;CSQ_gnomADg_AF=0.33329;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.227 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,30:95:0.31579:65:-100:0.1518:1,13,2,9,3,2,7,33,8,17,12,18:100:100 +21 42863326 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-1806T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863326A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19041;CSQ_gnomADg_AN=30778;CSQ_gnomADg_AF=0.618656;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.761 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,55:94:0.58511:65:-100:0.1897:6,17,5,7,6,14,8,31,7,19,10,19:100:100 +21 42863326 . A G 100 PASS DP=94;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-1806T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863326A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19041;CSQ_gnomADg_AN=30778;CSQ_gnomADg_AF=0.618656;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=47;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.761 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,55:94:0.58511:65:-100:0.1897:6,17,5,7,6,14,8,31,7,19,10,19:100:100 +21 42863369 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-1849G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863369C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10405;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.337299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=1.036 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,37:121:0.30579:65:-100:0.1712:7,10,3,9,3,5,20,35,14,20,11,21:100:100 +21 42863369 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-1849G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863369C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10405;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.337299;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=1.036 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,37:121:0.30579:65:-100:0.1712:7,10,3,9,3,5,20,35,14,20,11,21:100:100 +21 42863723 . T A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.350-2203A>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863723T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10360;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.33508;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.954 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,100:168:0.59524:65:-100:0.1295:19,27,11,15,13,15,30,51,17,27,17,26:100:100 +21 42863723 . T A 100 PASS DP=168;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.239-2203A>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42863723T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10360;CSQ_gnomADg_AN=30918;CSQ_gnomADg_AF=0.33508;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117inta&TMPRSS2:K80int&TMPRSS2:K80inta;CSQ_CADD_PHRED=0.954 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:68,100:168:0.59524:65:-100:0.1295:19,27,11,15,13,15,30,51,17,27,17,26:100:100 +21 42864145 . CA C 100 PASS DP=132;CSQ_Allele=-;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.349+2137del;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42864153del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-100:0:1,5,3,0,0,1,16,44,15,18,17,22:77.941:100 +21 42864145 . CA C 100 PASS DP=132;CSQ_Allele=-;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.238+2137del;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42864153del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,10:132:0.07576:65:-100:0:1,5,3,0,0,1,16,44,15,18,17,22:77.941:100 +21 42864692 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.349+1591T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42864692A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11119;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.359698;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=2.139 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,76:138:0.55072:65:-100:0.1636:15,22,4,11,10,14,27,46,9,25,13,18:100:100 +21 42864692 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.238+1591T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42864692A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11119;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.359698;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=38;CSQ_SpliceAI_pred_DP_AL=-25;CSQ_SpliceAI_pred_DP_DG=-48;CSQ_SpliceAI_pred_DP_DL=-5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=2.139 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,76:138:0.55072:65:-100:0.1636:15,22,4,11,10,14,27,46,9,25,13,18:100:100 +21 42864743 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.349+1540T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42864743A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19138;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.619433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=2.367 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,75:138:0.54348:65:-100:0.2203:7,26,6,15,5,16,22,51,10,25,7,23:100:100 +21 42864743 . A G 100 PASS DP=138;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.238+1540T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42864743A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19138;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.619433;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=2.367 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:63,75:138:0.54348:65:-100:0.2203:7,26,6,15,5,16,22,51,10,25,7,23:100:100 +21 42864871 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.349+1412G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42864871C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=456;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0147239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.043 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-100:0.1711:3,2,0,1,0,1,20,50,15,16,8,17:73.463:100 +21 42864871 . C T 100 PASS DP=126;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.238+1412G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42864871C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=456;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.0147239;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-13;CSQ_SpliceAI_pred_DP_AL=50;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.043 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,7:126:0.05556:65:-100:0.1711:3,2,0,1,0,1,20,50,15,16,8,17:73.463:100 +21 42865047 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.349+1236G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42865047C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29344;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.948294;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=1.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:14,106:120:0.88333:65:-100:0.1241:18,37,9,19,6,17,20,42,11,23,6,18:100:100 +21 42865047 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.238+1236G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42865047C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=29344;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.948294;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=1.935 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:14,106:120:0.88333:65:-100:0.1241:18,37,9,19,6,17,20,42,11,23,6,18:100:100 +21 42865151 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.349+1132A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42865151T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17984;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.582044;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=3.446 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,53:142:0.37324:65:-100:0.1394:5,17,7,8,4,12,18,49,13,22,15,25:100:100 +21 42865151 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.238+1132A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42865151T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=17984;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.582044;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-45;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=3.446 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,53:142:0.37324:65:-100:0.1394:5,17,7,8,4,12,18,49,13,22,15,25:100:100 +21 42865324 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.349+959C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42865324G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20719;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.674359;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=3.138 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,106:113:0.93805:65:-100:0.3025:18,30,9,18,15,16,19,32,9,19,16,18:100:100 +21 42865324 . G A 100 PASS DP=113;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.238+959C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42865324G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20719;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.674359;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=11;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:K117int&TMPRSS2:K117intd&TMPRSS2:K80int&TMPRSS2:K80intd;CSQ_CADD_PHRED=3.138 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:7,106:113:0.93805:65:-100:0.3025:18,30,9,18,15,16,19,32,9,19,16,18:100:100 +21 42865906 . G C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.349+377C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42865906G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2026;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0654097;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,39:125:0.312:65:-100:0.1667:9,11,2,9,4,4,17,56,7,19,8,18:100:100 +21 42865906 . G C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.238+377C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42865906G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2026;CSQ_gnomADg_AN=30974;CSQ_gnomADg_AF=0.0654097;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-42;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,39:125:0.312:65:-100:0.1667:9,11,2,9,4,4,17,56,7,19,8,18:100:100 +21 42866296 . T C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.336A>G;CSQ_HGVSp=NP_001128571.1:p.Thr112%3D;CSQ_HGVSg=21:g.42866296T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3421;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.11059;CSQ_gnomADe_AC=23892;CSQ_gnomADe_AN=241092;CSQ_gnomADe_AF=0.0990991;CSQ_gnomADe_Hom=1658;CSQ_COSMICcMuts=COSV59821982&COSV59821982&COSV59821982;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:T112T&TMPRSS2:T75T;CSQ_CADD_PHRED=0.053 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,22:134:0.16418:65:-100:0.141:5,9,2,1,2,3,21,61,8,13,8,23:100:100 +21 42866296 . T C 100 PASS DP=134;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/14;CSQ_INTRON=.;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.225A>G;CSQ_HGVSp=NP_005647.3:p.Thr75%3D;CSQ_HGVSg=21:g.42866296T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3421;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.11059;CSQ_gnomADe_AC=23892;CSQ_gnomADe_AN=241092;CSQ_gnomADe_AF=0.0990991;CSQ_gnomADe_Hom=1658;CSQ_COSMICcMuts=COSV59821982&COSV59821982&COSV59821982;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.07;CSQ_SpliceAI_pred_DS_DL=0.02;CSQ_SpliceAI_pred_DP_AG=20;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:T112T&TMPRSS2:T75T;CSQ_CADD_PHRED=0.053 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,22:134:0.16418:65:-100:0.141:5,9,2,1,2,3,21,61,8,13,8,23:100:100 +21 42870771 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-655T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42870771A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.990 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,6:121:0.04959:65:-97.7418:0.1479:0,1,2,0,0,3,16,57,9,12,4,23:68.161:100 +21 42870771 . A G 100 PASS DP=121;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-655T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42870771A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=-48;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.990 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,6:121:0.04959:65:-97.7418:0.1479:0,1,2,0,0,3,16,57,9,12,4,23:68.161:100 +21 42870993 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-877C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42870993G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3415;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.110525;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821427&COSV59821427&COSV59821427;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta&TMPRSS2:G19int&TMPRSS2:G19inta;CSQ_CADD_PHRED=2.793 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,21:119:0.17647:65:-100:0.156:6,6,2,3,1,3,19,48,7,16,10,19:100:100 +21 42870993 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-877C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42870993G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3415;CSQ_gnomADg_AN=30898;CSQ_gnomADg_AF=0.110525;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821427&COSV59821427&COSV59821427;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta&TMPRSS2:G19int&TMPRSS2:G19inta;CSQ_CADD_PHRED=2.793 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:98,21:119:0.17647:65:-100:0.156:6,6,2,3,1,3,19,48,7,16,10,19:100:100 +21 42871131 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-1015T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871131A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3446;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.111348;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821435&COSV59821435&COSV59821435;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta&TMPRSS2:G19int&TMPRSS2:G19inta;CSQ_CADD_PHRED=4.091 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,11:125:0.088:65:-100:0.1379:2,2,3,1,0,3,19,53,7,11,13,22:100:100 +21 42871131 . A G 100 PASS DP=125;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-1015T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871131A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3446;CSQ_gnomADg_AN=30948;CSQ_gnomADg_AF=0.111348;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821435&COSV59821435&COSV59821435;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=30;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta&TMPRSS2:G19int&TMPRSS2:G19inta;CSQ_CADD_PHRED=4.091 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,11:125:0.088:65:-100:0.1379:2,2,3,1,0,3,19,53,7,11,13,22:100:100 +21 42871220 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-1104G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871220C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4125;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.133236;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta;CSQ_CADD_PHRED=0.357 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,24:116:0.2069:65:-100:0.1343:3,13,0,1,1,6,16,42,5,15,13,25:100:100 +21 42871220 . C T 100 PASS DP=116;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-1104G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871220C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4125;CSQ_gnomADg_AN=30960;CSQ_gnomADg_AF=0.133236;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta;CSQ_CADD_PHRED=0.357 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:92,24:116:0.2069:65:-100:0.1343:3,13,0,1,1,6,16,42,5,15,13,25:100:100 +21 42871545 . A AT 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-1430dup;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871550dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2474;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.0800855;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821621&COSV59821621&COSV59821621;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta&TMPRSS2:G19int&TMPRSS2:G19inta;CSQ_CADD_PHRED=1.251 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0:2,2,1,2,2,4,22,46,19,21,9,22:100:100 +21 42871545 . A AT 100 PASS DP=139;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-1430dup;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871550dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2474;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.0800855;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821621&COSV59821621&COSV59821621;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta&TMPRSS2:G19int&TMPRSS2:G19inta;CSQ_CADD_PHRED=1.251 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,13:139:0.09353:65:-100:0:2,2,1,2,2,4,22,46,19,21,9,22:100:100 +21 42871641 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-1525G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871641C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.995 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,9:131:0.0687:65:-100:0.1709:0,2,2,2,1,2,24,40,17,17,10,23:100:100 +21 42871641 . C T 100 PASS DP=131;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-1525G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871641C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-28;CSQ_SpliceAI_pred_DP_DG=31;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.995 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,9:131:0.0687:65:-100:0.1709:0,2,2,2,1,2,24,40,17,17,10,23:100:100 +21 42871921 . T A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-1805A>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871921T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=159;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00513466;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,17:134:0.12687:65:-100:0.1677:3,4,2,1,2,5,17,51,8,25,10,23:100:100 +21 42871921 . T A 100 PASS DP=134;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-1805A>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871921T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=159;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.00513466;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-14;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.883 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,17:134:0.12687:65:-100:0.1677:3,4,2,1,2,5,17,51,8,25,10,23:100:100 +21 42871941 . G C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-1825C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871941G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26928;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.870048;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.102 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,110:130:0.84615:65:-100:0.1772:17,43,6,18,7,19,19,49,8,26,8,20:100:100 +21 42871941 . G C 100 PASS DP=130;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-1825C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42871941G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=26928;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.870048;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.102 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:20,110:130:0.84615:65:-100:0.1772:17,43,6,18,7,19,19,49,8,26,8,20:100:100 +21 42872751 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-2635A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42872751T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4177;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.134977;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.495 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,35:140:0.25:65:-100:0.1304:6,11,6,6,4,2,23,51,11,20,13,22:100:100 +21 42872751 . T C 100 PASS DP=140;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-2635A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42872751T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4177;CSQ_gnomADg_AN=30946;CSQ_gnomADg_AF=0.134977;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.495 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,35:140:0.25:65:-100:0.1304:6,11,6,6,4,2,23,51,11,20,13,22:100:100 +21 42872877 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-2761T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42872877A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=6.45911e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.084 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,15:122:0.12295:65:-100:0.1408:4,3,2,1,1,4,24,39,10,15,9,25:100:100 +21 42872877 . A G 100 PASS DP=122;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-2761T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42872877A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=6.45911e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=35;CSQ_SpliceAI_pred_DP_DG=-13;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=6.084 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,15:122:0.12295:65:-100:0.1408:4,3,2,1,1,4,24,39,10,15,9,25:100:100 +21 42872897 . G C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-2781C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42872897G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25498;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.824271;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta&TMPRSS2:G19int&TMPRSS2:G19inta;CSQ_CADD_PHRED=8.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,77:119:0.64706:65:-100:0.1377:16,24,6,16,3,12,19,39,8,23,10,20:100:100 +21 42872897 . G C 100 PASS DP=119;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-2781C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42872897G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=25498;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.824271;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-33;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRinta&TMPRSS2:G19int&TMPRSS2:G19inta;CSQ_CADD_PHRED=8.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:42,77:119:0.64706:65:-100:0.1377:16,24,6,16,3,12,19,39,8,23,10,20:100:100 +21 42874082 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-3966T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42874082A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.543 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,8:140:0.05714:65:-100:0.1358:2,2,0,3,0,1,21,51,10,37,6,15:92.623:100 +21 42874082 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-3966T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42874082A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=50;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.543 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:132,8:140:0.05714:65:-100:0.1358:2,2,0,3,0,1,21,51,10,37,6,15:92.623:100 +21 42874841 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.56-4725A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42874841T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=93;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00300426;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59826804&COSV59826804&COSV59826804;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.237 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,8:118:0.0678:65:-97.1625:0.1259:3,1,0,1,2,1,20,43,10,16,10,19:100:100 +21 42874841 . T C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-4725A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42874841T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=93;CSQ_gnomADg_AN=30956;CSQ_gnomADg_AF=0.00300426;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59826804&COSV59826804&COSV59826804;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=0;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.237 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,8:118:0.0678:65:-97.1625:0.1259:3,1,0,1,2,1,20,43,10,16,10,19:100:100 +21 42875044 . G GA 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+4832dup;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42875050dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,9:126:0.07143:65:-100:0:1,2,2,2,1,1,21,40,8,22,13,20:100:100 +21 42875044 . G GA 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-56-4929dup;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42875050dup;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=6;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,9:126:0.07143:65:-100:0:1,2,2,2,1,1,21,40,8,22,13,20:100:100 +21 42875404 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+4473T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42875404A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3420;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.110501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821448&COSV59821448&COSV59821448;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=0.116 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,18:117:0.15385:65:-100:0.1643:2,7,1,4,1,3,15,45,5,21,7,24:100:100 +21 42875404 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+4604T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42875404A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3420;CSQ_gnomADg_AN=30950;CSQ_gnomADg_AF=0.110501;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821448&COSV59821448&COSV59821448;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-3;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=0.116 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,18:117:0.15385:65:-100:0.1643:2,7,1,4,1,3,15,45,5,21,7,24:100:100 +21 42875755 . C T 100 PASS DP=117;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+4122G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42875755C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.568 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,7:117:0.05983:65:-100:0.1643:1,1,2,1,2,0,12,49,9,21,5,21:86.089:100 +21 42875755 . C T 100 PASS DP=117;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+4253G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42875755C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=-12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.568 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:110,7:117:0.05983:65:-100:0.1643:1,1,2,1,2,0,12,49,9,21,5,21:86.089:100 +21 42876400 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+3477G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42876400C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10671;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.345474;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=2.399 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,48:162:0.2963:65:-100:0.1563:8,15,8,6,2,9,32,48,19,27,10,26:100:100 +21 42876400 . C T 100 PASS DP=162;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+3608G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42876400C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10671;CSQ_gnomADg_AN=30888;CSQ_gnomADg_AF=0.345474;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-22;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=2.399 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,48:162:0.2963:65:-100:0.1563:8,15,8,6,2,9,32,48,19,27,10,26:100:100 +21 42876447 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+3430A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42876447T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3427;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.110784;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821459&COSV59821459&COSV59821459;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=1.475 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,23:160:0.14375:65:-100:0.1304:2,9,1,2,1,8,25,48,19,24,15,29:100:100 +21 42876447 . T C 100 PASS DP=160;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+3561A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42876447T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3427;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.110784;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821459&COSV59821459&COSV59821459;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=1.475 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,23:160:0.14375:65:-100:0.1304:2,9,1,2,1,8,25,48,19,24,15,29:100:100 +21 42876598 . T C 100 PASS DP=110;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+3279A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42876598T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4119;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.133266;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.322 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,16:110:0.14545:65:-100:0.1667:4,5,1,1,1,4,12,44,8,20,9,17:100:100 +21 42876598 . T C 100 PASS DP=110;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+3410A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42876598T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=4119;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.133266;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=9;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.322 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,16:110:0.14545:65:-100:0.1667:4,5,1,1,1,4,12,44,8,20,9,17:100:100 +21 42877277 . A G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+2600T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42877277A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.466 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,22:165:0.13333:65:-100:0.1129:3,9,1,6,1,2,23,59,11,32,11,29:100:100 +21 42877277 . A G 100 PASS DP=165;CSQ_Allele=G;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+2731T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42877277A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-4;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=-28;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.466 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:143,22:165:0.13333:65:-100:0.1129:3,9,1,6,1,2,23,59,11,32,11,29:100:100 +21 42877382 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+2495A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42877382T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2290;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.074019;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59822963&COSV59822963&COSV59822963;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=3.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,15:145:0.10345:65:-100:0.142:2,7,2,2,0,2,26,55,11,18,7,28:100:100 +21 42877382 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+2626A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42877382T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2290;CSQ_gnomADg_AN=30938;CSQ_gnomADg_AF=0.074019;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59822963&COSV59822963&COSV59822963;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=33;CSQ_SpliceAI_pred_DP_AL=26;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=3.778 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:130,15:145:0.10345:65:-100:0.142:2,7,2,2,0,2,26,55,11,18,7,28:100:100 +21 42877542 . C A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+2335G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42877542C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21351;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.691195;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.474 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,97:140:0.69286:65:-100:0.1813:13,39,5,23,3,14,17,57,9,30,7,20:100:100 +21 42877542 . C A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+2466G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42877542C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21351;CSQ_gnomADg_AN=30890;CSQ_gnomADg_AF=0.691195;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-16;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=38;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.474 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,97:140:0.69286:65:-100:0.1813:13,39,5,23,3,14,17,57,9,30,7,20:100:100 +21 42878126 . A C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+1751T>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42878126A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2441;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0788844;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821628&COSV59821628&COSV59821628;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=7.102 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,15:132:0.11364:65:-100:0.1538:1,6,1,1,5,1,14,49,11,22,13,23:100:100 +21 42878126 . A C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+1882T>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42878126A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2441;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.0788844;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59821628&COSV59821628&COSV59821628;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=29;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=-41;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=7.102 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,15:132:0.11364:65:-100:0.1538:1,6,1,1,5,1,14,49,11,22,13,23:100:100 +21 42878154 . G C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+1723C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42878154G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=9.68804e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.628 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,7:132:0.05303:65:-46.8046:0.1646:1,3,0,1,0,2,15,48,11,20,12,26:90.147:100 +21 42878154 . G C 100 PASS DP=132;CSQ_Allele=C;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+1854C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42878154G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=9.68804e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-47;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.628 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:125,7:132:0.05303:65:-46.8046:0.1646:1,3,0,1,0,2,15,48,11,20,12,26:90.147:100 +21 42878611 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+1266G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42878611C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3913;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.126471;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.051 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,22:135:0.16296:65:-100:0.1818:4,8,4,4,0,2,22,45,13,22,7,26:100:100 +21 42878611 . C T 100 PASS DP=135;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+1397G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42878611C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3913;CSQ_gnomADg_AN=30940;CSQ_gnomADg_AF=0.126471;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=40;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.051 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:113,22:135:0.16296:65:-100:0.1818:4,8,4,4,0,2,22,45,13,22,7,26:100:100 +21 42878710 . C A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+1167G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42878710C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=165;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00532877;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.000 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,12:138:0.08696:65:-100:0.1266:2,4,2,3,0,1,28,43,14,20,14,19:100:100 +21 42878710 . C A 100 PASS DP=138;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+1298G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42878710C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=165;CSQ_gnomADg_AN=30964;CSQ_gnomADg_AF=0.00532877;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-50;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.000 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:126,12:138:0.08696:65:-100:0.1266:2,4,2,3,0,1,28,43,14,20,14,19:100:100 +21 42879182 . G T 100 PASS DP=102;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+695C>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42879182G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=361;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.01167;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=6.720 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,13:102:0.12745:65:-100:0.1207:0,3,0,7,2,1,15,30,13,18,7,19:100:100 +21 42879182 . G T 100 PASS DP=102;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+826C>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42879182G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=361;CSQ_gnomADg_AN=30934;CSQ_gnomADg_AF=0.01167;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=-10;CSQ_SpliceAI_pred_DP_DG=-23;CSQ_SpliceAI_pred_DP_DL=-10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=6.720 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,13:102:0.12745:65:-100:0.1207:0,3,0,7,2,1,15,30,13,18,7,19:100:100 +21 42879403 . A T 100 PASS DP=52;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+474T>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42879403A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8649;CSQ_gnomADg_AN=30662;CSQ_gnomADg_AF=0.282076;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=3.985 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,11:52:0.21154:65:-100:0.1613:4,2,0,3,0,2,14,10,4,11,3,10:100:100 +21 42879403 . A T 100 PASS DP=52;CSQ_Allele=T;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+605T>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42879403A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8649;CSQ_gnomADg_AN=30662;CSQ_gnomADg_AF=0.282076;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-45;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G19int&TMPRSS2:G19intd;CSQ_CADD_PHRED=3.985 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:41,11:52:0.21154:65:-100:0.1613:4,2,0,3,0,2,14,10,4,11,3,10:100:100 +21 42879724 . G A 100 PASS DP=94;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.55+153C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42879724G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3903;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.126622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,16:94:0.17021:65:-100:0.1754:2,7,1,1,2,3,14,38,11,10,5,16:100:100 +21 42879724 . G A 100 PASS DP=94;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+284C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42879724G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3903;CSQ_gnomADg_AN=30824;CSQ_gnomADg_AF=0.126622;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=15;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.72 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,16:94:0.17021:65:-100:0.1754:2,7,1,1,2,3,14,38,11,10,5,16:100:100 +21 42879909 . C A 100 PASS DP=17;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/14;CSQ_INTRON=.;CSQ_Feature=NM_001135099.1;CSQ_HGVSc=NM_001135099.1:c.23G>T;CSQ_HGVSp=NP_001128571.1:p.Gly8Val;CSQ_HGVSg=21:g.42879909C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1273671;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11150;CSQ_gnomADg_AN=30676;CSQ_gnomADg_AF=0.363476;CSQ_gnomADe_AC=17632;CSQ_gnomADe_AN=51282;CSQ_gnomADe_AF=0.343824;CSQ_gnomADe_Hom=3274;CSQ_COSMICcMuts=COSV59827803&COSV59827803&COSV59827803;CSQ_COSMICncMuts=COSV59827803;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=0.197;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G8V;CSQ_CADD_PHRED=11.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,4:17:0.23529:65:-100:0.15:3,0,1,0,0,0,11,1,2,0,3,0:74.181:100 +21 42879909 . C A 100 PASS DP=17;CSQ_Allele=A;CSQ_SYMBOL=TMPRSS2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/13;CSQ_Feature=NM_005656.4;CSQ_HGVSc=NM_005656.4:c.-57+99G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.42879909C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1273671;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=11150;CSQ_gnomADg_AN=30676;CSQ_gnomADg_AF=0.363476;CSQ_gnomADe_AC=17632;CSQ_gnomADe_AN=51282;CSQ_gnomADe_AF=0.343824;CSQ_gnomADe_Hom=3274;CSQ_COSMICcMuts=COSV59827803&COSV59827803&COSV59827803;CSQ_COSMICncMuts=COSV59827803;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-17;CSQ_SpliceAI_pred_DP_AL=0;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TMPRSS2:5UTR&TMPRSS2:5UTRint&TMPRSS2:5UTRintd&TMPRSS2:G8V;CSQ_CADD_PHRED=11.60 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:13,4:17:0.23529:65:-100:0.15:3,0,1,0,0,0,11,1,2,0,3,0:74.181:100 +21 44524456 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=U2AF1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_001025203.1;CSQ_HGVSc=NM_001025203.1:c.101C>T;CSQ_HGVSp=NP_001020374.1:p.Ser34Phe;CSQ_HGVSg=21:g.44524456G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=376025;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acute_myeloid_leukemia&Pancreatic_adenocarcinoma&Transitional_cell_carcinoma_of_the_bladder&Lung_adenocarcinoma&Neoplasm_of_uterine_cervix&Uterine_carcinosarcoma&Squamous_cell_carcinoma_of_the_head_and_neck&Myelodysplastic_syndrome&Malignant_neoplasm_of_body_of_uterus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=244838;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52341059&COSV52341059&COSV52341059&COSV52341059;CSQ_COSMICncMuts=COSV52341059;CSQ_CGC=oncogene;CSQ_Hotspots=U2AF1:S34;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.700;CSQ_Mastermind_MMID3=U2AF1:5UTR&U2AF1:S34F;CSQ_CADD_PHRED=29.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,12:123:0.09756:65:-100:0.0956:2,5,1,1,1,2,23,43,9,19,8,21:100:100 +21 44524456 . G A 100 PASS DP=123;CSQ_Allele=A;CSQ_SYMBOL=U2AF1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=2/8;CSQ_INTRON=.;CSQ_Feature=NM_006758.3;CSQ_HGVSc=NM_006758.3:c.101C>T;CSQ_HGVSp=NP_006749.1:p.Ser34Phe;CSQ_HGVSg=21:g.44524456G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=376025;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acute_myeloid_leukemia&Pancreatic_adenocarcinoma&Transitional_cell_carcinoma_of_the_bladder&Lung_adenocarcinoma&Neoplasm_of_uterine_cervix&Uterine_carcinosarcoma&Squamous_cell_carcinoma_of_the_head_and_neck&Myelodysplastic_syndrome&Malignant_neoplasm_of_body_of_uterus;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=0;CSQ_gnomADe_AN=244838;CSQ_gnomADe_AF=0;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV52341059&COSV52341059&COSV52341059&COSV52341059;CSQ_COSMICncMuts=COSV52341059;CSQ_CGC=oncogene;CSQ_Hotspots=U2AF1:S34;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=24;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=-33;CSQ_REVEL=0.700;CSQ_Mastermind_MMID3=U2AF1:5UTR&U2AF1:S34F;CSQ_CADD_PHRED=29.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,12:123:0.09756:65:-100:0.0956:2,5,1,1,1,2,23,43,9,19,8,21:100:100 +21 45649494 . A G 100 PASS DP=40;CSQ_Allele=G;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.898+443T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649494A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22090;CSQ_gnomADg_AN=23798;CSQ_gnomADg_AF=0.928229;CSQ_gnomADe_AC=75807;CSQ_gnomADe_AN=83800;CSQ_gnomADe_AF=0.904618;CSQ_gnomADe_Hom=34286;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=1.309 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:1,39:40:0.975:65:-100:0.322:13,7,6,3,6,4,13,7,7,3,6,4:100:100 +21 45649494 . A G 100 PASS DP=40;CSQ_Allele=G;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.547+443T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649494A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22090;CSQ_gnomADg_AN=23798;CSQ_gnomADg_AF=0.928229;CSQ_gnomADe_AC=75807;CSQ_gnomADe_AN=83800;CSQ_gnomADe_AF=0.904618;CSQ_gnomADe_Hom=34286;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=-47;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=1.309 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:1,39:40:0.975:65:-100:0.322:13,7,6,3,6,4,13,7,7,3,6,4:100:100 +21 45649499 . G A 100 PASS DP=47;CSQ_Allele=A;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.898+438C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649499G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5783;CSQ_gnomADg_AN=26378;CSQ_gnomADg_AF=0.219236;CSQ_gnomADe_AC=14245;CSQ_gnomADe_AN=104254;CSQ_gnomADe_AF=0.136637;CSQ_gnomADe_Hom=2349;CSQ_COSMICcMuts=COSV60264588&COSV60264588&COSV60264588&COSV60264588;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,16:47:0.34043:65:-100:0.2985:5,2,1,2,4,2,13,7,12,5,7,3:100:100 +21 45649499 . G A 100 PASS DP=47;CSQ_Allele=A;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.547+438C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649499G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5783;CSQ_gnomADg_AN=26378;CSQ_gnomADg_AF=0.219236;CSQ_gnomADe_AC=14245;CSQ_gnomADe_AN=104254;CSQ_gnomADe_AF=0.136637;CSQ_gnomADe_Hom=2349;CSQ_COSMICcMuts=COSV60264588&COSV60264588&COSV60264588&COSV60264588;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-24;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-32;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=1.323 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:31,16:47:0.34043:65:-100:0.2985:5,2,1,2,4,2,13,7,12,5,7,3:100:100 +21 45649640 . C T 100 PASS DP=82;CSQ_Allele=T;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.898+297G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649640C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5391;CSQ_gnomADg_AN=15556;CSQ_gnomADg_AF=0.346554;CSQ_gnomADe_AC=23258;CSQ_gnomADe_AN=114544;CSQ_gnomADe_AF=0.203049;CSQ_gnomADe_Hom=2681;CSQ_COSMICcMuts=COSV60263262&COSV60263262&COSV60263262&COSV60263262;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=0.281 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,18:82:0.21951:65:-100:0.1277:8,1,1,3,1,4,25,20,4,10,7,16:100:100 +21 45649640 . C T 100 PASS DP=82;CSQ_Allele=T;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.547+297G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649640C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=5391;CSQ_gnomADg_AN=15556;CSQ_gnomADg_AF=0.346554;CSQ_gnomADe_AC=23258;CSQ_gnomADe_AN=114544;CSQ_gnomADe_AF=0.203049;CSQ_gnomADe_Hom=2681;CSQ_COSMICcMuts=COSV60263262&COSV60263262&COSV60263262&COSV60263262;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=0.281 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:64,18:82:0.21951:65:-100:0.1277:8,1,1,3,1,4,25,20,4,10,7,16:100:100 +21 45649666 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.898+271C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649666G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9084;CSQ_gnomADg_AN=27462;CSQ_gnomADg_AF=0.330784;CSQ_gnomADe_AC=41220;CSQ_gnomADe_AN=112994;CSQ_gnomADe_AF=0.364798;CSQ_gnomADe_Hom=8785;CSQ_COSMICcMuts=COSV60263498&COSV60263498&COSV60263498&COSV60263498;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=3.141 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,40:101:0.39604:65:-100:0.114:12,9,3,6,2,8,30,24,7,13,10,17:100:100 +21 45649666 . G A 100 PASS DP=101;CSQ_Allele=A;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.547+271C>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649666G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9084;CSQ_gnomADg_AN=27462;CSQ_gnomADg_AF=0.330784;CSQ_gnomADe_AC=41220;CSQ_gnomADe_AN=112994;CSQ_gnomADe_AF=0.364798;CSQ_gnomADe_Hom=8785;CSQ_COSMICcMuts=COSV60263498&COSV60263498&COSV60263498&COSV60263498;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=3.141 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:61,40:101:0.39604:65:-100:0.114:12,9,3,6,2,8,30,24,7,13,10,17:100:100 +21 45649778 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.898+159T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649778A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22185;CSQ_gnomADg_AN=30760;CSQ_gnomADg_AF=0.721229;CSQ_gnomADe_AC=104288;CSQ_gnomADe_AN=148092;CSQ_gnomADe_AF=0.704211;CSQ_gnomADe_Hom=36900;CSQ_COSMICcMuts=COSV60263272&COSV60263272&COSV60263272&COSV60263272;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=2.762 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,113:149:0.75839:65:-100:0.1582:35,28,9,18,8,15,42,34,11,24,15,23:100:100 +21 45649778 . A G 100 PASS DP=149;CSQ_Allele=G;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.547+159T>C;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649778A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=22185;CSQ_gnomADg_AN=30760;CSQ_gnomADg_AF=0.721229;CSQ_gnomADe_AC=104288;CSQ_gnomADe_AN=148092;CSQ_gnomADe_AF=0.704211;CSQ_gnomADe_Hom=36900;CSQ_COSMICcMuts=COSV60263272&COSV60263272&COSV60263272&COSV60263272;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-42;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=2.762 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,113:149:0.75839:65:-100:0.1582:35,28,9,18,8,15,42,34,11,24,15,23:100:100 +21 45649848 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.898+89A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649848T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21173;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.687123;CSQ_gnomADe_AC=103197;CSQ_gnomADe_AN=151272;CSQ_gnomADe_AF=0.682195;CSQ_gnomADe_Hom=35512;CSQ_COSMICcMuts=COSV60263420&COSV60263420&COSV60263420&COSV60263420;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=7.496 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,109:145:0.75172:65:-100:0.1854:19,41,6,17,8,18,24,53,11,21,13,23:100:100 +21 45649848 . T C 100 PASS DP=145;CSQ_Allele=C;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.547+89A>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649848T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21173;CSQ_gnomADg_AN=30814;CSQ_gnomADg_AF=0.687123;CSQ_gnomADe_AC=103197;CSQ_gnomADe_AN=151272;CSQ_gnomADe_AF=0.682195;CSQ_gnomADe_Hom=35512;CSQ_COSMICcMuts=COSV60263420&COSV60263420&COSV60263420&COSV60263420;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.10;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:E300int&ICOSLG:E300intd&ICOSLG:G183int&ICOSLG:G183intd&ICOSLG:G215int&ICOSLG:G215intd&ICOSLG:G273int&ICOSLG:G273intd&ICOSLG:G300int&ICOSLG:G300intd;CSQ_CADD_PHRED=7.496 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:36,109:145:0.75172:65:-100:0.1854:19,41,6,17,8,18,24,53,11,21,13,23:100:100 +21 45649900 . G C 100 PASS DP=149;CSQ_Allele=C;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.898+37C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649900G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,8:149:0.05369:65:-100:0.1722:1,4,0,2,0,1,25,60,8,21,6,29:78.793:100 +21 45649900 . G C 100 PASS DP=149;CSQ_Allele=C;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.547+37C>G;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649900G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-34;CSQ_SpliceAI_pred_DP_AL=-23;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.450 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,8:149:0.05369:65:-100:0.1722:1,4,0,2,0,1,25,60,8,21,6,29:78.793:100 +21 45649903 . C A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/6;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.898+34G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649903C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.932 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,8:153:0.05229:65:-100:0.15:1,4,0,2,0,1,27,59,10,20,8,29:76.773:100 +21 45649903 . C A 100 PASS DP=153;CSQ_Allele=A;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.547+34G>T;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45649903C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.06;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=34;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.932 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:145,8:153:0.05229:65:-100:0.15:1,4,0,2,0,1,27,59,10,20,8,29:76.773:100 +21 45656774 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/7;CSQ_INTRON=.;CSQ_Feature=NM_001283050.2;CSQ_HGVSc=NM_001283050.2:c.382G>A;CSQ_HGVSp=NP_001269979.1:p.Val128Ile;CSQ_HGVSg=21:g.45656774C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169475;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8586;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.27781;CSQ_gnomADe_AC=53339;CSQ_gnomADe_AN=199794;CSQ_gnomADe_AF=0.26697;CSQ_gnomADe_Hom=7382;CSQ_COSMICcMuts=COSV60263467&COSV60263467&COSV60263467&COSV60263467;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=0.042;CSQ_Mastermind_MMID3=ICOSLG:A19int&ICOSLG:A19inta&ICOSLG:V101I&ICOSLG:V128I&ICOSLG:V43I;CSQ_CADD_PHRED=2.573 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,10:129:0.07752:65:-100:0.1731:3,4,0,2,1,0,22,45,5,21,11,25:100:100 +21 45656774 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=ICOSLG;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/5;CSQ_Feature=NM_001283051.2;CSQ_HGVSc=NM_001283051.2:c.56-1329G>A;CSQ_HGVSp=.;CSQ_HGVSg=21:g.45656774C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1169475;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=8586;CSQ_gnomADg_AN=30906;CSQ_gnomADg_AF=0.27781;CSQ_gnomADe_AC=53339;CSQ_gnomADe_AN=199794;CSQ_gnomADe_AF=0.26697;CSQ_gnomADe_Hom=7382;CSQ_COSMICcMuts=COSV60263467&COSV60263467&COSV60263467&COSV60263467;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-25;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=-24;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ICOSLG:A19int&ICOSLG:A19inta&ICOSLG:V101I&ICOSLG:V128I&ICOSLG:V43I;CSQ_CADD_PHRED=2.573 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,10:129:0.07752:65:-100:0.1731:3,4,0,2,1,0,22,45,5,21,11,25:100:100 +22 21337325 . G A 100 PASS DP=124;CSQ_Allele=A;CSQ_SYMBOL=LZTR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/21;CSQ_INTRON=.;CSQ_Feature=NM_006767.4;CSQ_HGVSc=NM_006767.4:c.210G>A;CSQ_HGVSp=NP_006758.2:p.Lys70%3D;CSQ_HGVSg=22:g.21337325G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=379392;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=8385;CSQ_gnomADg_AN=30878;CSQ_gnomADg_AF=0.271553;CSQ_gnomADe_AC=70578;CSQ_gnomADe_AN=246212;CSQ_gnomADe_AF=0.286655;CSQ_gnomADe_Hom=10728;CSQ_COSMICcMuts=COSV53147463&COSV53147463;CSQ_COSMICncMuts=COSV53147463&COSV53147463&COSV53147463&COSV53147463&COSV53147463&COSV53147463&COSV53147463&COSV53147463&COSV53147463&COSV53147463&COSV53147463;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LZTR1:K70K;CSQ_CADD_PHRED=12.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:104,20:124:0.16129:65:-100:0.1329:5,5,1,2,2,5,21,39,16,18,7,23:100:100 +22 21348914 . C T 100 PASS DP=137;CSQ_Allele=T;CSQ_SYMBOL=LZTR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/21;CSQ_INTRON=.;CSQ_Feature=NM_006767.4;CSQ_HGVSc=NM_006767.4:c.1683C>T;CSQ_HGVSp=NP_006758.2:p.Arg561%3D;CSQ_HGVSg=22:g.21348914C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=379429;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome¬_specified&Cardiovascular_phenotype¬_provided;CSQ_gnomADg_AC=4809;CSQ_gnomADg_AN=30896;CSQ_gnomADg_AF=0.155651;CSQ_gnomADe_AC=33889;CSQ_gnomADe_AN=245208;CSQ_gnomADe_AF=0.138205;CSQ_gnomADe_Hom=2452;CSQ_COSMICcMuts=COSV53144954&COSV53144954;CSQ_COSMICncMuts=COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954&COSV53144954;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.20;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=49;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=.;CSQ_Mastermind_MMID3=LZTR1:R561R;CSQ_CADD_PHRED=13.11 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,22:137:0.16058:65:-100:0.1218:3,8,1,5,1,4,18,49,16,27,11,16:100:100 +22 21349284 . T C 100 PASS DP=127;CSQ_Allele=C;CSQ_SYMBOL=LZTR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/21;CSQ_INTRON=.;CSQ_Feature=NM_006767.4;CSQ_HGVSc=NM_006767.4:c.1911T>C;CSQ_HGVSp=NP_006758.2:p.Pro637%3D;CSQ_HGVSg=22:g.21349284T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV53150911&COSV53150911;CSQ_COSMICncMuts=COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911&COSV53150911;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-34;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.433 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,10:127:0.07874:65:-100:0.1419:4,1,0,1,2,2,19,41,15,25,10,17:100:100 +22 23523630 . C A 100 PASS DP=58;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/23;CSQ_INTRON=.;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.483C>A;CSQ_HGVSp=NP_004318.3:p.Ile161%3D;CSQ_HGVSg=22:g.23523630C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8735;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.284305;CSQ_gnomADe_AC=65429;CSQ_gnomADe_AN=233170;CSQ_gnomADe_AF=0.280606;CSQ_gnomADe_Hom=9605;CSQ_COSMICcMuts=COSV59926760&COSV59926760&COSV59926760;CSQ_COSMICncMuts=COSV59926760&COSV59926760;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:I161I;CSQ_CADD_PHRED=9.680 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,8:58:0.13793:65:-100:0.0938:1,3,2,1,1,0,8,15,8,10,9,8:100:100 +22 23523630 . C A 100 PASS DP=58;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/22;CSQ_INTRON=.;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.483C>A;CSQ_HGVSp=NP_067585.2:p.Ile161%3D;CSQ_HGVSg=22:g.23523630C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=8735;CSQ_gnomADg_AN=30724;CSQ_gnomADg_AF=0.284305;CSQ_gnomADe_AC=65429;CSQ_gnomADe_AN=233170;CSQ_gnomADe_AF=0.280606;CSQ_gnomADe_Hom=9605;CSQ_COSMICcMuts=COSV59926760&COSV59926760&COSV59926760;CSQ_COSMICncMuts=COSV59926760&COSV59926760;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=7;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:I161I;CSQ_CADD_PHRED=9.680 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:50,8:58:0.13793:65:-100:0.0938:1,3,2,1,1,0,8,15,8,10,9,8:100:100 +22 23523753 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/23;CSQ_INTRON=.;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.606C>T;CSQ_HGVSp=NP_004318.3:p.Ser202%3D;CSQ_HGVSg=22:g.23523753C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=780633;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acute_lymphoid_leukemia&Chronic_myelogenous_leukemia&_BCR-ABL1_positive¬_provided;CSQ_gnomADg_AC=197;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.00636634;CSQ_gnomADe_AC=401;CSQ_gnomADe_AN=241270;CSQ_gnomADe_AF=0.00166204;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV59933390&COSV59933390&COSV59933390;CSQ_COSMICncMuts=COSV59933390&COSV59933390;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,19:120:0.15833:65:-100:0.1045:3,5,1,1,2,7,19,39,12,15,12,23:100:100 +22 23523753 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/22;CSQ_INTRON=.;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.606C>T;CSQ_HGVSp=NP_067585.2:p.Ser202%3D;CSQ_HGVSg=22:g.23523753C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=780633;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Acute_lymphoid_leukemia&Chronic_myelogenous_leukemia&_BCR-ABL1_positive¬_provided;CSQ_gnomADg_AC=197;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=0.00636634;CSQ_gnomADe_AC=401;CSQ_gnomADe_AN=241270;CSQ_gnomADe_AF=0.00166204;CSQ_gnomADe_Hom=6;CSQ_COSMICcMuts=COSV59933390&COSV59933390&COSV59933390;CSQ_COSMICncMuts=COSV59933390&COSV59933390;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-21;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.01 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,19:120:0.15833:65:-100:0.1045:3,5,1,1,2,7,19,39,12,15,12,23:100:100 +22 23524193 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/23;CSQ_INTRON=.;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.1046A>G;CSQ_HGVSp=NP_004318.3:p.Gln349Arg;CSQ_HGVSg=22:g.23524193A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=3.23164e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245070;CSQ_gnomADe_AF=4.08047e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59927746&COSV59927746&COSV59927746;CSQ_COSMICncMuts=COSV59927746&COSV59927746;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.123;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,18:140:0.12857:65:-100:0.1765:6,6,0,3,1,2,18,56,12,19,14,21:100:100 +22 23524193 . A G 100 PASS DP=140;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/22;CSQ_INTRON=.;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.1046A>G;CSQ_HGVSp=NP_067585.2:p.Gln349Arg;CSQ_HGVSg=22:g.23524193A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=30944;CSQ_gnomADg_AF=3.23164e-05;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=245070;CSQ_gnomADe_AF=4.08047e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59927746&COSV59927746&COSV59927746;CSQ_COSMICncMuts=COSV59927746&COSV59927746;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-23;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.123;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=22.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,18:140:0.12857:65:-100:0.1765:6,6,0,3,1,2,18,56,12,19,14,21:100:100 +22 23627369 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/23;CSQ_INTRON=.;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2387A>G;CSQ_HGVSp=NP_004318.3:p.Asn796Ser;CSQ_HGVSg=22:g.23627369A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1182413;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=26181;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.847062;CSQ_gnomADe_AC=198573;CSQ_gnomADe_AN=243784;CSQ_gnomADe_AF=0.814545;CSQ_gnomADe_Hom=82035;CSQ_COSMICcMuts=COSV59932309&COSV59932309;CSQ_COSMICncMuts=COSV59932309&COSV59932309;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.098;CSQ_Mastermind_MMID3=BCR:N796S;CSQ_CADD_PHRED=16.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,104:132:0.78788:65:-100:0.1429:20,33,7,16,7,21,24,45,11,21,9,22:100:100 +22 23627369 . A G 100 PASS DP=132;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/22;CSQ_INTRON=.;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2387A>G;CSQ_HGVSp=NP_067585.2:p.Asn796Ser;CSQ_HGVSg=22:g.23627369A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1182413;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=26181;CSQ_gnomADg_AN=30908;CSQ_gnomADg_AF=0.847062;CSQ_gnomADe_AC=198573;CSQ_gnomADe_AN=243784;CSQ_gnomADe_AF=0.814545;CSQ_gnomADe_Hom=82035;CSQ_COSMICcMuts=COSV59932309&COSV59932309;CSQ_COSMICncMuts=COSV59932309&COSV59932309;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-7;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=17;CSQ_REVEL=0.098;CSQ_Mastermind_MMID3=BCR:N796S;CSQ_CADD_PHRED=16.06 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:28,104:132:0.78788:65:-100:0.1429:20,33,7,16,7,21,24,45,11,21,9,22:100:100 +22 23631801 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/23;CSQ_INTRON=.;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2700T>C;CSQ_HGVSp=NP_004318.3:p.Asn900%3D;CSQ_HGVSg=22:g.23631801T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10047;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.325398;CSQ_gnomADe_AC=70279;CSQ_gnomADe_AN=245650;CSQ_gnomADe_AF=0.286094;CSQ_gnomADe_Hom=11308;CSQ_COSMICcMuts=COSV59932322&COSV59932322;CSQ_COSMICncMuts=COSV59932322&COSV59932322&COSV59932322;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N900N;CSQ_CADD_PHRED=10.38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,22:142:0.15493:65:-100:0.1548:3,8,3,4,1,3,21,54,11,25,9,22:100:100 +22 23631801 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=13/22;CSQ_INTRON=.;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2700T>C;CSQ_HGVSp=NP_067585.2:p.Asn900%3D;CSQ_HGVSg=22:g.23631801T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10047;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.325398;CSQ_gnomADe_AC=70279;CSQ_gnomADe_AN=245650;CSQ_gnomADe_AF=0.286094;CSQ_gnomADe_Hom=11308;CSQ_COSMICcMuts=COSV59932322&COSV59932322;CSQ_COSMICncMuts=COSV59932322&COSV59932322&COSV59932322;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-29;CSQ_SpliceAI_pred_DP_AL=34;CSQ_SpliceAI_pred_DP_DG=7;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N900N;CSQ_CADD_PHRED=10.38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,22:142:0.15493:65:-100:0.1548:3,8,3,4,1,3,21,54,11,25,9,22:100:100 +22 23631813 . G GC 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2707+12dup;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23631820dup;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9859;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.31989;CSQ_gnomADe_AC=68971;CSQ_gnomADe_AN=244144;CSQ_gnomADe_AF=0.282501;CSQ_gnomADe_Hom=10619;CSQ_COSMICcMuts=COSV59926168&COSV59926168;CSQ_COSMICncMuts=COSV59926168&COSV59926168;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:D903int&BCR:D903intd;CSQ_CADD_PHRED=9.294 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,14:142:0.09859:65:-100:0:4,2,1,3,1,3,18,51,10,26,10,26:100:100 +22 23631813 . G GC 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2707+12dup;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23631820dup;CSQ_HGVS_OFFSET=7;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9859;CSQ_gnomADg_AN=30820;CSQ_gnomADg_AF=0.31989;CSQ_gnomADe_AC=68971;CSQ_gnomADe_AN=244144;CSQ_gnomADe_AF=0.282501;CSQ_gnomADe_Hom=10619;CSQ_COSMICcMuts=COSV59926168&COSV59926168;CSQ_COSMICncMuts=COSV59926168&COSV59926168;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-5;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:D903int&BCR:D903intd;CSQ_CADD_PHRED=9.294 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:128,14:142:0.09859:65:-100:0:4,2,1,3,1,3,18,51,10,26,10,26:100:100 +22 23631823 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2707+15T>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23631823T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9964;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.323108;CSQ_gnomADe_AC=69508;CSQ_gnomADe_AN=244224;CSQ_gnomADe_AF=0.284608;CSQ_gnomADe_Hom=10906;CSQ_COSMICcMuts=COSV59930216&COSV59930216;CSQ_COSMICncMuts=COSV59930216&COSV59930216;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,23:142:0.16197:65:-100:0.1696:2,9,1,4,0,7,17,56,9,23,8,29:100:100 +22 23631823 . T C 100 PASS DP=142;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2707+15T>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23631823T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9964;CSQ_gnomADg_AN=30838;CSQ_gnomADg_AF=0.323108;CSQ_gnomADe_AC=69508;CSQ_gnomADe_AN=244224;CSQ_gnomADe_AF=0.284608;CSQ_gnomADe_Hom=10906;CSQ_COSMICcMuts=COSV59930216&COSV59930216;CSQ_COSMICncMuts=COSV59930216&COSV59930216;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=12;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.831 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:119,23:142:0.16197:65:-100:0.1696:2,9,1,4,0,7,17,56,9,23,8,29:100:100 +22 23632257 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2708-269A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632257A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10116;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.327252;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.875 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,29:134:0.21642:65:-100:0.1677:7,7,1,2,5,7,25,39,16,19,12,23:100:100 +22 23632257 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2708-269A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632257A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10116;CSQ_gnomADg_AN=30912;CSQ_gnomADg_AF=0.327252;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-46;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=-46;CSQ_SpliceAI_pred_DP_DL=-31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.875 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,29:134:0.21642:65:-100:0.1677:7,7,1,2,5,7,25,39,16,19,12,23:100:100 +22 23632333 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2708-193G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632333G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30071;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.970972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.607 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:6,129:135:0.95556:65:-100:0.1118:22,49,11,17,11,19,25,51,11,18,11,19:100:100 +22 23632333 . G A 100 PASS DP=135;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=13/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2708-193G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632333G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30071;CSQ_gnomADg_AN=30970;CSQ_gnomADg_AF=0.970972;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=37;CSQ_SpliceAI_pred_DP_DL=1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.607 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:6,129:135:0.95556:65:-100:0.1118:22,49,11,17,11,19,25,51,11,18,11,19:100:100 +22 23632513 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=13/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2708-13A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632513A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10117;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.327496;CSQ_gnomADe_AC=69690;CSQ_gnomADe_AN=246196;CSQ_gnomADe_AF=0.283067;CSQ_gnomADe_Hom=11197;CSQ_COSMICcMuts=COSV59926608&COSV59926608;CSQ_COSMICncMuts=COSV59926608&COSV59926608;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:D903int&BCR:D903inta;CSQ_CADD_PHRED=8.084 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,19:134:0.14179:65:-100:0.1067:7,9,2,0,0,1,21,50,16,16,10,21:100:100 +22 23632513 . A G 100 PASS DP=134;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=13/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2708-13A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632513A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10117;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.327496;CSQ_gnomADe_AC=69690;CSQ_gnomADe_AN=246196;CSQ_gnomADe_AF=0.283067;CSQ_gnomADe_Hom=11197;CSQ_COSMICcMuts=COSV59926608&COSV59926608;CSQ_COSMICncMuts=COSV59926608&COSV59926608;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-15;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=12;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:D903int&BCR:D903inta;CSQ_CADD_PHRED=8.084 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,19:134:0.14179:65:-100:0.1067:7,9,2,0,0,1,21,50,16,16,10,21:100:100 +22 23632621 . G C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+21G>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632621G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6031;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.194951;CSQ_gnomADe_AC=48706;CSQ_gnomADe_AN=246196;CSQ_gnomADe_AF=0.197834;CSQ_gnomADe_Hom=5626;CSQ_COSMICcMuts=COSV59930226&COSV59930226;CSQ_COSMICncMuts=COSV59930226&COSV59930226;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.588 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,9:150:0.06:65:-100:0.162:1,2,1,0,2,3,26,53,14,20,16,21:100:100 +22 23632621 . G C 100 PASS DP=150;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+21G>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632621G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6031;CSQ_gnomADg_AN=30936;CSQ_gnomADg_AF=0.194951;CSQ_gnomADe_AC=48706;CSQ_gnomADe_AN=246196;CSQ_gnomADe_AF=0.197834;CSQ_gnomADe_Hom=5626;CSQ_COSMICcMuts=COSV59930226&COSV59930226;CSQ_COSMICncMuts=COSV59930226&COSV59930226;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=36;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.588 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,9:150:0.06:65:-100:0.162:1,2,1,0,2,3,26,53,14,20,16,21:100:100 +22 23632636 . C A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+36C>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632636C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7971;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.257944;CSQ_gnomADe_AC=66120;CSQ_gnomADe_AN=246100;CSQ_gnomADe_AF=0.268671;CSQ_gnomADe_Hom=9753;CSQ_COSMICcMuts=COSV59926614&COSV59926614;CSQ_COSMICncMuts=COSV59926614&COSV59926614;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.756 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,21:150:0.14:65:-100:0.1573:3,5,0,4,4,5,31,47,13,22,17,20:100:100 +22 23632636 . C A 100 PASS DP=150;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+36C>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632636C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7971;CSQ_gnomADg_AN=30902;CSQ_gnomADg_AF=0.257944;CSQ_gnomADe_AC=66120;CSQ_gnomADe_AN=246100;CSQ_gnomADe_AF=0.268671;CSQ_gnomADe_Hom=9753;CSQ_COSMICcMuts=COSV59926614&COSV59926614;CSQ_COSMICncMuts=COSV59926614&COSV59926614;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=39;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.756 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:129,21:150:0.14:65:-100:0.1573:3,5,0,4,4,5,31,47,13,22,17,20:100:100 +22 23632665 . C A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+65C>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632665C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23399;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.756857;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59935579&COSV59935579;CSQ_COSMICncMuts=COSV59935579&COSV59935579;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N928int&BCR:N928intd;CSQ_CADD_PHRED=0.285 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,117:160:0.73125:65:-100:0.1837:27,36,6,12,14,22,40,47,11,19,16,27:100:100 +22 23632665 . C A 100 PASS DP=160;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+65C>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632665C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23399;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.756857;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59935579&COSV59935579;CSQ_COSMICncMuts=COSV59935579&COSV59935579;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=25;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=10;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N928int&BCR:N928intd;CSQ_CADD_PHRED=0.285 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:43,117:160:0.73125:65:-100:0.1837:27,36,6,12,14,22,40,47,11,19,16,27:100:100 +22 23632777 . G GT 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+182dup;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632782dup;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6936;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.22464;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59927355&COSV59927355;CSQ_COSMICncMuts=COSV59927355&COSV59927355;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.855 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,15:136:0.11029:65:-100:0:2,4,1,3,0,5,19,47,14,25,4,26:100:100 +22 23632777 . G GT 100 PASS DP=136;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+182dup;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632782dup;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6936;CSQ_gnomADg_AN=30876;CSQ_gnomADg_AF=0.22464;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59927355&COSV59927355;CSQ_COSMICncMuts=COSV59927355&COSV59927355;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=2.855 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,15:136:0.11029:65:-100:0:2,4,1,3,0,5,19,47,14,25,4,26:100:100 +22 23632861 . A T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+261A>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632861A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3498;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.113417;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59928821&COSV59928821;CSQ_COSMICncMuts=COSV59928821&COSV59928821;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N928int&BCR:N928intd;CSQ_CADD_PHRED=5.776 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,18:124:0.14516:65:-100:0.1448:3,6,2,4,1,2,18,42,10,28,5,21:100:100 +22 23632861 . A T 100 PASS DP=124;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+261A>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632861A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3498;CSQ_gnomADg_AN=30842;CSQ_gnomADg_AF=0.113417;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59928821&COSV59928821;CSQ_COSMICncMuts=COSV59928821&COSV59928821;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=11;CSQ_SpliceAI_pred_DP_AL=-49;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N928int&BCR:N928intd;CSQ_CADD_PHRED=5.776 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:106,18:124:0.14516:65:-100:0.1448:3,6,2,4,1,2,18,42,10,28,5,21:100:100 +22 23632928 . A C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+328A>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632928A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7864;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.254927;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.886 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,36:131:0.27481:65:-100:0.1438:4,9,4,6,6,7,20,37,11,27,15,21:100:100 +22 23632928 . A C 100 PASS DP=131;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+328A>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23632928A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7864;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.254927;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=43;CSQ_SpliceAI_pred_DP_DL=-22;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.886 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:95,36:131:0.27481:65:-100:0.1438:4,9,4,6,6,7,20,37,11,27,15,21:100:100 +22 23633005 . A T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+405A>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633005A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2325;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.0752866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.263 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,12:134:0.08955:65:-100:0.1677:1,4,0,2,2,3,18,42,9,30,4,31:100:100 +22 23633005 . A T 100 PASS DP=134;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+405A>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633005A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=2325;CSQ_gnomADg_AN=30882;CSQ_gnomADg_AF=0.0752866;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-37;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.263 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,12:134:0.08955:65:-100:0.1677:1,4,0,2,2,3,18,42,9,30,4,31:100:100 +22 23633252 . G A 100 PASS DP=75;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+652G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633252G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23487;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.762367;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N928int&BCR:N928intd;CSQ_CADD_PHRED=2.007 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:10,65:75:0.86667:65:-100:0.2788:8,19,9,10,12,7,11,20,12,11,13,8:100:100 +22 23633252 . G A 100 PASS DP=75;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+652G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633252G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=23487;CSQ_gnomADg_AN=30808;CSQ_gnomADg_AF=0.762367;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N928int&BCR:N928intd;CSQ_CADD_PHRED=2.007 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:10,65:75:0.86667:65:-100:0.2788:8,19,9,10,12,7,11,20,12,11,13,8:100:100 +22 23633473 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2782+873T>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633473T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9743;CSQ_gnomADg_AN=30588;CSQ_gnomADg_AF=0.318524;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N928int&BCR:N928intd;CSQ_CADD_PHRED=0.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,22:125:0.176:65:-100:0.1935:6,10,0,3,0,3,27,42,10,20,7,19:100:100 +22 23633473 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2782+873T>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633473T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=9743;CSQ_gnomADg_AN=30588;CSQ_gnomADg_AF=0.318524;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=46;CSQ_SpliceAI_pred_DP_AL=47;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:N928int&BCR:N928intd;CSQ_CADD_PHRED=0.284 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,22:125:0.176:65:-100:0.1935:6,10,0,3,0,3,27,42,10,20,7,19:100:100 +22 23633842 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2783-886G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633842G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10108;CSQ_gnomADg_AN=30810;CSQ_gnomADg_AF=0.328075;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,23:143:0.16084:65:-100:0.2011:5,8,4,2,2,2,28,41,18,23,13,20:100:100 +22 23633842 . G A 100 PASS DP=143;CSQ_Allele=A;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2783-886G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633842G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10108;CSQ_gnomADg_AN=30810;CSQ_gnomADg_AF=0.328075;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=43;CSQ_SpliceAI_pred_DP_DG=-32;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.975 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:120,23:143:0.16084:65:-100:0.2011:5,8,4,2,2,2,28,41,18,23,13,20:100:100 +22 23633944 . A G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/22;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.2783-784A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633944A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10038;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.325318;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.677 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,21:136:0.15441:65:-100:0.1392:5,6,1,4,2,3,33,44,13,21,6,19:100:100 +22 23633944 . A G 100 PASS DP=136;CSQ_Allele=G;CSQ_SYMBOL=BCR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=14/21;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.2783-784A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.23633944A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=10038;CSQ_gnomADg_AN=30856;CSQ_gnomADg_AF=0.325318;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-20;CSQ_SpliceAI_pred_DP_AL=9;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.677 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,21:136:0.15441:65:-100:0.1392:5,6,1,4,2,3,33,44,13,21,6,19:100:100 +22 23655084 . C T 100 PASS DP=79;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=20/23;CSQ_INTRON=.;CSQ_Feature=NM_004327.4;CSQ_HGVSc=NM_004327.4:c.3333C>T;CSQ_HGVSp=NP_004318.3:p.Asp1111%3D;CSQ_HGVSg=22:g.23655084C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6029;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.195442;CSQ_gnomADe_AC=41764;CSQ_gnomADe_AN=233082;CSQ_gnomADe_AF=0.179182;CSQ_gnomADe_Hom=4547;CSQ_COSMICcMuts=COSV59932117&COSV59932117;CSQ_COSMICncMuts=COSV59932117&COSV59932117;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:D1067D&BCR:D1111D;CSQ_CADD_PHRED=4.922 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,14:79:0.17722:65:-100:0.233:1,7,2,0,1,3,12,31,5,15,6,10:100:100 +22 23655084 . C T 100 PASS DP=79;CSQ_Allele=T;CSQ_SYMBOL=BCR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=19/22;CSQ_INTRON=.;CSQ_Feature=NM_021574.3;CSQ_HGVSc=NM_021574.3:c.3201C>T;CSQ_HGVSp=NP_067585.2:p.Asp1067%3D;CSQ_HGVSg=22:g.23655084C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6029;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.195442;CSQ_gnomADe_AC=41764;CSQ_gnomADe_AN=233082;CSQ_gnomADe_AF=0.179182;CSQ_gnomADe_Hom=4547;CSQ_COSMICcMuts=COSV59932117&COSV59932117;CSQ_COSMICncMuts=COSV59932117&COSV59932117;CSQ_CGC=fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=44;CSQ_SpliceAI_pred_DP_AL=-40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=43;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCR:D1067D&BCR:D1111D;CSQ_CADD_PHRED=4.922 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:65,14:79:0.17722:65:-100:0.233:1,7,2,0,1,3,12,31,5,15,6,10:100:100 +22 24167513 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=SMARCB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/9;CSQ_INTRON=.;CSQ_Feature=NM_001007468.3;CSQ_HGVSc=NM_001007468.3:c.870G>A;CSQ_HGVSp=NP_001007469.1:p.Ser290%3D;CSQ_HGVSg=22:g.24167513G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126368;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_1&Hereditary_cancer-predisposing_syndrome&Schwannomatosis_1¬_specified¬_provided;CSQ_gnomADg_AC=3372;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.10907;CSQ_gnomADe_AC=27689;CSQ_gnomADe_AN=246246;CSQ_gnomADe_AF=0.112444;CSQ_gnomADe_Hom=1736;CSQ_COSMICcMuts=COSV54093776&COSV54093776&COSV54093776&COSV54093776;CSQ_COSMICncMuts=COSV54093776;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCB1:S290S&SMARCB1:S299S&SMARCB1:S308S&SMARCB1:S317S;CSQ_CADD_PHRED=0.347 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,18:140:0.12857:65:-100:0.1026:2,6,3,2,0,5,24,59,9,21,9,18:100:100 +22 24167513 . G A 100 PASS DP=140;CSQ_Allele=A;CSQ_SYMBOL=SMARCB1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/9;CSQ_INTRON=.;CSQ_Feature=NM_003073.5;CSQ_HGVSc=NM_003073.5:c.897G>A;CSQ_HGVSp=NP_003064.2:p.Ser299%3D;CSQ_HGVSg=22:g.24167513G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=126368;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rhabdoid_tumor_predisposition_syndrome_1&Hereditary_cancer-predisposing_syndrome&Schwannomatosis_1¬_specified¬_provided;CSQ_gnomADg_AC=3372;CSQ_gnomADg_AN=30916;CSQ_gnomADg_AF=0.10907;CSQ_gnomADe_AC=27689;CSQ_gnomADe_AN=246246;CSQ_gnomADe_AF=0.112444;CSQ_gnomADe_Hom=1736;CSQ_COSMICcMuts=COSV54093776&COSV54093776&COSV54093776&COSV54093776;CSQ_COSMICncMuts=COSV54093776;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-8;CSQ_SpliceAI_pred_DP_DG=-7;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMARCB1:S290S&SMARCB1:S299S&SMARCB1:S308S&SMARCB1:S317S;CSQ_CADD_PHRED=0.347 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,18:140:0.12857:65:-100:0.1026:2,6,3,2,0,5,24,59,9,21,9,18:100:100 +22 29091840 . TG CA 100 Blacklist;LowSupport;LowDP;rescued DP=95;CSQ_Allele=CA;CSQ_SYMBOL=CHEK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_001005735.2;CSQ_HGVSc=NM_001005735.2:c.1245_1246inv;CSQ_HGVSp=NP_001005735.1:p.Lys416Glu;CSQ_HGVSg=22:g.29091840_29091841inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:K416E;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,5:95:0.05263:65:-97.3038:0:2,0,2,0,1,0,24,84,12,32,22,18:9.966:100 +22 29091840 . TG CA 100 Blacklist;LowSupport;LowDP;rescued DP=95;CSQ_Allele=CA;CSQ_SYMBOL=CHEK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=12/16;CSQ_INTRON=.;CSQ_Feature=NM_001257387.2;CSQ_HGVSc=NM_001257387.2:c.453_454inv;CSQ_HGVSp=NP_001244316.1:p.Lys152Glu;CSQ_HGVSg=22:g.29091840_29091841inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,5:95:0.05263:65:-97.3038:0:2,0,2,0,1,0,24,84,12,32,22,18:9.966:100 +22 29091840 . TG CA 100 Blacklist;LowSupport;LowDP;rescued DP=95;CSQ_Allele=CA;CSQ_SYMBOL=CHEK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=10/14;CSQ_INTRON=.;CSQ_Feature=NM_145862.2;CSQ_HGVSc=NM_145862.2:c.1029_1030inv;CSQ_HGVSp=NP_665861.1:p.Lys344Glu;CSQ_HGVSg=22:g.29091840_29091841inv;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399&COSV60415399;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:90,5:95:0.05263:65:-97.3038:0:2,0,2,0,1,0,24,84,12,32,22,18:9.966:100 +22 29092920 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=CHEK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/16;CSQ_INTRON=.;CSQ_Feature=NM_001005735.2;CSQ_HGVSc=NM_001005735.2:c.1193T>C;CSQ_HGVSp=NP_001005735.1:p.Leu398Pro;CSQ_HGVSg=22:g.29092920A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=924878;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299;CSQ_COSMICncMuts=COSV60415299&COSV60415299&COSV60415299;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.870;CSQ_Mastermind_MMID3=CHEK2:L355P&CHEK2:L398P;CSQ_CADD_PHRED=25.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,8:145:0.05517:65:-100:0.0994:2,2,0,3,1,0,23,52,8,28,12,22:87.507:100 +22 29092920 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=CHEK2;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=11/16;CSQ_INTRON=.;CSQ_Feature=NM_001257387.2;CSQ_HGVSc=NM_001257387.2:c.401T>C;CSQ_HGVSp=NP_001244316.1:p.Leu134Pro;CSQ_HGVSg=22:g.29092920A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=924878;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299;CSQ_COSMICncMuts=COSV60415299&COSV60415299&COSV60415299;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=0.870;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,8:145:0.05517:65:-100:0.0994:2,2,0,3,1,0,23,52,8,28,12,22:87.507:100 +22 29092920 . A G 100 PASS DP=145;CSQ_Allele=G;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=9/13;CSQ_Feature=NM_145862.2;CSQ_HGVSc=NM_145862.2:c.1009-1059T>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29092920A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=924878;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Hereditary_cancer-predisposing_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299&COSV60415299;CSQ_COSMICncMuts=COSV60415299&COSV60415299&COSV60415299;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=40;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=25.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:137,8:145:0.05517:65:-100:0.0994:2,2,0,3,1,0,23,52,8,28,12,22:87.507:100 +22 29100711 . T C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/15;CSQ_Feature=NM_001005735.2;CSQ_HGVSc=NM_001005735.2:c.976-1157A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29100711T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20509;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.663894;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:H215int&CHEK2:H215inta&CHEK2:H282int&CHEK2:H282inta&CHEK2:H325int&CHEK2:H325inta&CHEK2:H61int&CHEK2:H61inta;CSQ_CADD_PHRED=0.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,54:100:0.54:65:-100:0.187:8,18,7,10,4,7,19,31,11,15,11,13:100:100 +22 29100711 . T C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/15;CSQ_Feature=NM_001257387.2;CSQ_HGVSc=NM_001257387.2:c.184-1157A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29100711T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20509;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.663894;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:H215int&CHEK2:H215inta&CHEK2:H282int&CHEK2:H282inta&CHEK2:H325int&CHEK2:H325inta&CHEK2:H61int&CHEK2:H61inta;CSQ_CADD_PHRED=0.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,54:100:0.54:65:-100:0.187:8,18,7,10,4,7,19,31,11,15,11,13:100:100 +22 29100711 . T C 100 PASS DP=100;CSQ_Allele=C;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_145862.2;CSQ_HGVSc=NM_145862.2:c.847-1157A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29100711T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20509;CSQ_gnomADg_AN=30892;CSQ_gnomADg_AF=0.663894;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611&COSV60415611;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:H215int&CHEK2:H215inta&CHEK2:H282int&CHEK2:H282inta&CHEK2:H325int&CHEK2:H325inta&CHEK2:H61int&CHEK2:H61inta;CSQ_CADD_PHRED=0.645 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,54:100:0.54:65:-100:0.187:8,18,7,10,4,7,19,31,11,15,11,13:100:100 +22 29102967 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/15;CSQ_Feature=NM_001005735.2;CSQ_HGVSc=NM_001005735.2:c.975+3027C>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29102967G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18919;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.612265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662;CSQ_COSMICncMuts=COSV60415662;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:H215int&CHEK2:H215intd&CHEK2:H282int&CHEK2:H282intd&CHEK2:H325int&CHEK2:H325intd&CHEK2:H61int&CHEK2:H61intd;CSQ_CADD_PHRED=5.430 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,75:119:0.63025:65:-100:0.2013:9,23,4,10,16,13,19,37,8,19,17,19:100:100 +22 29102967 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=8/15;CSQ_Feature=NM_001257387.2;CSQ_HGVSc=NM_001257387.2:c.183+3027C>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29102967G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18919;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.612265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662;CSQ_COSMICncMuts=COSV60415662;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:H215int&CHEK2:H215intd&CHEK2:H282int&CHEK2:H282intd&CHEK2:H325int&CHEK2:H325intd&CHEK2:H61int&CHEK2:H61intd;CSQ_CADD_PHRED=5.430 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,75:119:0.63025:65:-100:0.2013:9,23,4,10,16,13,19,37,8,19,17,19:100:100 +22 29102967 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/13;CSQ_Feature=NM_145862.2;CSQ_HGVSc=NM_145862.2:c.846+3027C>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29102967G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18919;CSQ_gnomADg_AN=30900;CSQ_gnomADg_AF=0.612265;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662&COSV60415662;CSQ_COSMICncMuts=COSV60415662;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=21;CSQ_SpliceAI_pred_DP_AL=18;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:H215int&CHEK2:H215intd&CHEK2:H282int&CHEK2:H282intd&CHEK2:H325int&CHEK2:H325intd&CHEK2:H61int&CHEK2:H61intd;CSQ_CADD_PHRED=5.430 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:44,75:119:0.63025:65:-100:0.2013:9,23,4,10,16,13,19,37,8,19,17,19:100:100 +22 29108229 . A G 100 PASS DP=107;CSQ_Allele=G;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_001005735.2;CSQ_HGVSc=NM_001005735.2:c.813-224T>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29108229A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1231932;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=20376;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.659845;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728;CSQ_COSMICncMuts=COSV60415728&COSV60415728&COSV60415728;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:N161int&CHEK2:N161inta&CHEK2:S228int&CHEK2:S228inta&CHEK2:S271int&CHEK2:S271inta&CHEK2:S7int&CHEK2:S7inta;CSQ_CADD_PHRED=1.556 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,70:107:0.65421:65:-100:0.0855:7,21,6,11,9,16,16,34,9,14,10,24:100:100 +22 29108229 . A G 100 PASS DP=107;CSQ_Allele=G;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/15;CSQ_Feature=NM_001257387.2;CSQ_HGVSc=NM_001257387.2:c.21-224T>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29108229A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1231932;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=20376;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.659845;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728;CSQ_COSMICncMuts=COSV60415728&COSV60415728&COSV60415728;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:N161int&CHEK2:N161inta&CHEK2:S228int&CHEK2:S228inta&CHEK2:S271int&CHEK2:S271inta&CHEK2:S7int&CHEK2:S7inta;CSQ_CADD_PHRED=1.556 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,70:107:0.65421:65:-100:0.0855:7,21,6,11,9,16,16,34,9,14,10,24:100:100 +22 29108229 . A G 100 PASS DP=107;CSQ_Allele=G;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/13;CSQ_Feature=NM_145862.2;CSQ_HGVSc=NM_145862.2:c.684-224T>C;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29108229A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1231932;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=20376;CSQ_gnomADg_AN=30880;CSQ_gnomADg_AF=0.659845;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728&COSV60415728;CSQ_COSMICncMuts=COSV60415728&COSV60415728&COSV60415728;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:N161int&CHEK2:N161inta&CHEK2:S228int&CHEK2:S228inta&CHEK2:S271int&CHEK2:S271inta&CHEK2:S7int&CHEK2:S7inta;CSQ_CADD_PHRED=1.556 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:37,70:107:0.65421:65:-100:0.0855:7,21,6,11,9,16,16,34,9,14,10,24:100:100 +22 29123846 . T A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/15;CSQ_Feature=NM_001005735.2;CSQ_HGVSc=NM_001005735.2:c.449-2491A>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29123846T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18232;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.589613;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779;CSQ_COSMICncMuts=COSV60415779;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:5UTR&CHEK2:5UTRint&CHEK2:5UTRinta&CHEK2:E107int&CHEK2:E107inta&CHEK2:K150int&CHEK2:K150inta;CSQ_CADD_PHRED=1.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,66:105:0.62857:65:-100:0.1667:13,18,9,6,11,9,19,34,11,9,16,16:100:100 +22 29123846 . T A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/15;CSQ_Feature=NM_001257387.2;CSQ_HGVSc=NM_001257387.2:c.-458-2491A>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29123846T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18232;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.589613;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779;CSQ_COSMICncMuts=COSV60415779;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:5UTR&CHEK2:5UTRint&CHEK2:5UTRinta&CHEK2:E107int&CHEK2:E107inta&CHEK2:K150int&CHEK2:K150inta;CSQ_CADD_PHRED=1.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,66:105:0.62857:65:-100:0.1667:13,18,9,6,11,9,19,34,11,9,16,16:100:100 +22 29123846 . T A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/13;CSQ_Feature=NM_145862.2;CSQ_HGVSc=NM_145862.2:c.320-2491A>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29123846T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18232;CSQ_gnomADg_AN=30922;CSQ_gnomADg_AF=0.589613;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779&COSV60415779;CSQ_COSMICncMuts=COSV60415779;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.01;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:5UTR&CHEK2:5UTRint&CHEK2:5UTRinta&CHEK2:E107int&CHEK2:E107inta&CHEK2:K150int&CHEK2:K150inta;CSQ_CADD_PHRED=1.195 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:39,66:105:0.62857:65:-100:0.1667:13,18,9,6,11,9,19,34,11,9,16,16:100:100 +22 29125836 . T C 100 PASS DP=90;CSQ_Allele=C;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/15;CSQ_Feature=NM_001005735.2;CSQ_HGVSc=NM_001005735.2:c.448+572A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29125836T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30928;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823;CSQ_COSMICncMuts=COSV60415823;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:5UTR&CHEK2:5UTRint&CHEK2:5UTRinta&CHEK2:E107int&CHEK2:E107inta&CHEK2:K150int&CHEK2:K150intd;CSQ_CADD_PHRED=5.727 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,90:90:1:65:-100:0.1262:20,25,6,14,12,13,20,25,6,14,12,13:100:100 +22 29125836 . T C 100 PASS DP=90;CSQ_Allele=C;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/15;CSQ_Feature=NM_001257387.2;CSQ_HGVSc=NM_001257387.2:c.-458-4481A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29125836T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30928;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823;CSQ_COSMICncMuts=COSV60415823;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:5UTR&CHEK2:5UTRint&CHEK2:5UTRinta&CHEK2:E107int&CHEK2:E107inta&CHEK2:K150int&CHEK2:K150intd;CSQ_CADD_PHRED=5.727 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,90:90:1:65:-100:0.1262:20,25,6,14,12,13,20,25,6,14,12,13:100:100 +22 29125836 . T C 100 PASS DP=90;CSQ_Allele=C;CSQ_SYMBOL=CHEK2;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=2/13;CSQ_Feature=NM_145862.2;CSQ_HGVSc=NM_145862.2:c.320-4481A>G;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29125836T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=30928;CSQ_gnomADg_AN=30928;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823&COSV60415823;CSQ_COSMICncMuts=COSV60415823;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=32;CSQ_SpliceAI_pred_DP_AL=-3;CSQ_SpliceAI_pred_DP_DG=-39;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=CHEK2:5UTR&CHEK2:5UTRint&CHEK2:5UTRinta&CHEK2:E107int&CHEK2:E107inta&CHEK2:K150int&CHEK2:K150intd;CSQ_CADD_PHRED=5.727 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,90:90:1:65:-100:0.1262:20,25,6,14,12,13,20,25,6,14,12,13:100:100 +22 29678535 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/15;CSQ_Feature=NM_001163286.2;CSQ_HGVSc=NM_001163286.2:c.413+4330C>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29678535C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=7;CSQ_gnomADe_AN=180890;CSQ_gnomADe_AF=3.86976e-05;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1164:0,3,1,3,1,0,21,39,15,17,16,21:90.634:100 +22 29678535 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=EWSR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/9;CSQ_INTRON=.;CSQ_Feature=NM_001163287.2;CSQ_HGVSc=NM_001163287.2:c.570C>T;CSQ_HGVSp=NP_001156759.1:p.Tyr190%3D;CSQ_HGVSg=22:g.29678535C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=7;CSQ_gnomADe_AN=180890;CSQ_gnomADe_AF=3.86976e-05;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1164:0,3,1,3,1,0,21,39,15,17,16,21:90.634:100 +22 29678535 . C T 100 PASS DP=129;CSQ_Allele=T;CSQ_SYMBOL=EWSR1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=7/18;CSQ_INTRON=.;CSQ_Feature=NM_013986.4;CSQ_HGVSc=NM_013986.4:c.588C>T;CSQ_HGVSp=NP_053733.2:p.Tyr196%3D;CSQ_HGVSg=22:g.29678535C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=7;CSQ_gnomADe_AN=180890;CSQ_gnomADe_AF=3.86976e-05;CSQ_gnomADe_Hom=1;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=11;CSQ_SpliceAI_pred_DP_DL=-48;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.706 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,8:129:0.06202:65:-100:0.1164:0,3,1,3,1,0,21,39,15,17,16,21:90.634:100 +22 29678658 . GTGATAAGTCATC G 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/15;CSQ_Feature=NM_001163286.2;CSQ_HGVSc=NM_001163286.2:c.414-4250_414-4239del;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29678662_29678673del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=784;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0253558;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,14:126:0.11111:65:-100:0:3,2,0,1,2,6,22,34,12,21,14,25:100:100 +22 29678658 . GTGATAAGTCATC G 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001163287.2;CSQ_HGVSc=NM_001163287.2:c.581+116_581+127del;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29678662_29678673del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=784;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0253558;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,14:126:0.11111:65:-100:0:3,2,0,1,2,6,22,34,12,21,14,25:100:100 +22 29678658 . GTGATAAGTCATC G 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/17;CSQ_Feature=NM_013986.4;CSQ_HGVSc=NM_013986.4:c.599+116_599+127del;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29678662_29678673del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=784;CSQ_gnomADg_AN=30920;CSQ_gnomADg_AF=0.0253558;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.504 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,14:126:0.11111:65:-100:0:3,2,0,1,2,6,22,34,12,21,14,25:100:100 +22 29679713 . G A 100 PASS DP=62;CSQ_Allele=A;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/15;CSQ_Feature=NM_001163286.2;CSQ_HGVSc=NM_001163286.2:c.414-3199G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29679713G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3920;CSQ_gnomADg_AN=30658;CSQ_gnomADg_AF=0.127862;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,7:62:0.1129:65:-51.1979:0.2439:1,2,1,1,1,1,9,19,6,11,4,13:74.47:100 +22 29679713 . G A 100 PASS DP=62;CSQ_Allele=A;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001163287.2;CSQ_HGVSc=NM_001163287.2:c.581+1167G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29679713G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3920;CSQ_gnomADg_AN=30658;CSQ_gnomADg_AF=0.127862;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,7:62:0.1129:65:-51.1979:0.2439:1,2,1,1,1,1,9,19,6,11,4,13:74.47:100 +22 29679713 . G A 100 PASS DP=62;CSQ_Allele=A;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/17;CSQ_Feature=NM_013986.4;CSQ_HGVSc=NM_013986.4:c.599+1167G>A;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29679713G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3920;CSQ_gnomADg_AN=30658;CSQ_gnomADg_AF=0.127862;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-8;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.093 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,7:62:0.1129:65:-51.1979:0.2439:1,2,1,1,1,1,9,19,6,11,4,13:74.47:100 +22 29681773 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/15;CSQ_Feature=NM_001163286.2;CSQ_HGVSc=NM_001163286.2:c.414-1139C>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29681773C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.072 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,9:121:0.07438:65:-100:0.1824:1,4,0,3,0,1,28,36,14,17,14,12:100:100 +22 29681773 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=6/8;CSQ_Feature=NM_001163287.2;CSQ_HGVSc=NM_001163287.2:c.582-1139C>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29681773C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.072 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,9:121:0.07438:65:-100:0.1824:1,4,0,3,0,1,28,36,14,17,14,12:100:100 +22 29681773 . C T 100 PASS DP=121;CSQ_Allele=T;CSQ_SYMBOL=EWSR1;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=7/17;CSQ_Feature=NM_013986.4;CSQ_HGVSc=NM_013986.4:c.600-1139C>T;CSQ_HGVSp=.;CSQ_HGVSg=22:g.29681773C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=43;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=1.072 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,9:121:0.07438:65:-100:0.1824:1,4,0,3,0,1,28,36,14,17,14,12:100:100 +22 30060990 . AC A 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=NF2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/16;CSQ_INTRON=.;CSQ_Feature=NM_000268.4;CSQ_HGVSc=NM_000268.4:c.824del;CSQ_HGVSp=NP_000259.1:p.Pro275HisfsTer21;CSQ_HGVSg=22:g.30060992del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,17:126:0.13492:65:-100:0:2,5,2,1,2,5,22,43,12,14,18,17:100:100 +22 30060990 . AC A 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=NF2;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=7/15;CSQ_INTRON=.;CSQ_Feature=NM_181830.3;CSQ_HGVSc=NM_181830.3:c.575del;CSQ_HGVSp=NP_861968.1:p.Pro192HisfsTer21;CSQ_HGVSg=22:g.30060992del;CSQ_HGVS_OFFSET=1;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236&COSV58520236;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=45;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=-12;CSQ_SpliceAI_pred_DP_DL=-14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:109,17:126:0.13492:65:-100:0:2,5,2,1,2,5,22,43,12,14,18,17:100:100 +22 38369976 . A G 100 PASS DP=114;CSQ_Allele=G;CSQ_SYMBOL=SOX10;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/4;CSQ_INTRON=.;CSQ_Feature=NM_006941.4;CSQ_HGVSc=NM_006941.4:c.927T>C;CSQ_HGVSp=NP_008872.1:p.His309%3D;CSQ_HGVSg=22:g.38369976A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=227081;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=PCWH_syndrome&Waardenburg_syndrome_type_2E&Waardenburg_syndrome_type_4C&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=21364;CSQ_gnomADg_AN=30872;CSQ_gnomADg_AF=0.692019;CSQ_gnomADe_AC=158439;CSQ_gnomADe_AN=244190;CSQ_gnomADe_AF=0.648835;CSQ_gnomADe_Hom=51875;CSQ_COSMICcMuts=COSV62807092&COSV62807092&COSV62807092&COSV62807092;CSQ_COSMICncMuts=COSV62807092&COSV62807092&COSV62807092&COSV62807092;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=4;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=4;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLR2F:3UTR&POLR2F:3UTRint&POLR2F:3UTRintd&POLR2F:K98int&POLR2F:K98intd&POLR2F:N98int&POLR2F:N98intd&SOX10:H309H;CSQ_CADD_PHRED=0.384 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,85:114:0.74561:65:-100:0.1298:16,30,7,14,4,14,23,39,9,17,7,19:100:100 +22 38379399 . G A 100 PASS DP=126;CSQ_Allele=A;CSQ_SYMBOL=SOX10;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_006941.4;CSQ_HGVSc=NM_006941.4:c.393C>T;CSQ_HGVSp=NP_008872.1:p.Asn131%3D;CSQ_HGVSg=22:g.38379399G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61005173&COSV61005173&COSV61005173&COSV61005173;CSQ_COSMICncMuts=COSV61005173&COSV61005173;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-35;CSQ_SpliceAI_pred_DP_AL=44;CSQ_SpliceAI_pred_DP_DG=19;CSQ_SpliceAI_pred_DP_DL=-35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.22 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:116,10:126:0.07937:65:-100:0.1871:2,3,0,1,2,2,25,37,9,23,11,21:100:100 +22 38379774 . G A 100 PASS DP=35;CSQ_Allele=A;CSQ_SYMBOL=SOX10;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/4;CSQ_INTRON=.;CSQ_Feature=NM_006941.4;CSQ_HGVSc=NM_006941.4:c.18C>T;CSQ_HGVSp=NP_008872.1:p.Asp6%3D;CSQ_HGVSg=22:g.38379774G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=227078;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=PCWH_syndrome&Waardenburg_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=2090;CSQ_gnomADg_AN=29940;CSQ_gnomADg_AF=0.0698063;CSQ_gnomADe_AC=5357;CSQ_gnomADe_AN=97226;CSQ_gnomADe_AF=0.0550984;CSQ_gnomADe_Hom=184;CSQ_COSMICcMuts=COSV61004948&COSV61004948&COSV61004948&COSV61004948;CSQ_COSMICncMuts=COSV61004948&COSV61004948&COSV61004948;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=.;CSQ_Mastermind_MMID3=POLR2F:3UTR&POLR2F:3UTRint&POLR2F:3UTRintd&POLR2F:K98int&POLR2F:K98intd&POLR2F:N98int&POLR2F:N98inta&SOX10:D6D;CSQ_CADD_PHRED=12.86 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:29,6:35:0.17143:65:-100:0:4,0,2,0,0,0,18,1,11,0,5,0:96.504:100 +22 41522008 . CA C 100 PASS DP=126;CSQ_Allele=-;CSQ_SYMBOL=EP300;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.875del;CSQ_HGVSp=NP_001420.2:p.Lys292ArgfsTer25;CSQ_HGVSg=22:g.41522013del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54327471;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-45;CSQ_SpliceAI_pred_DP_DG=32;CSQ_SpliceAI_pred_DP_DL=35;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:117,9:126:0.07143:65:-100:0:2,1,0,2,1,3,20,46,7,24,7,22:100:100 +22 41536164 . C T 100 PASS DP=132;CSQ_Allele=T;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.1781C>T;CSQ_HGVSp=NP_001420.2:p.Thr594Met;CSQ_HGVSg=22:g.41536164C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=977155;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Multicystic_kidney_dysplasia&Colorectal_cancer&Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations&Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency&Menke-Hennekam_syndrome_2;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=17;CSQ_gnomADe_AN=246260;CSQ_gnomADe_AF=6.90327e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54329987;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-20;CSQ_SpliceAI_pred_DP_DL=-17;CSQ_REVEL=0.754;CSQ_Mastermind_MMID3=EP300:T594M;CSQ_CADD_PHRED=28.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:121,11:132:0.08333:65:-97.8929:0.1698:2,2,0,3,2,2,15,44,14,21,16,22:100:100 +22 41548008 . A G 100 PASS DP=116;CSQ_Allele=G;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.2989A>G;CSQ_HGVSp=NP_001420.2:p.Ile997Val;CSQ_HGVSg=22:g.41548008A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93736;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency&Menke-Hennekam_syndrome_2&Colorectal_carcinoma¬_specified¬_provided;CSQ_gnomADg_AC=6638;CSQ_gnomADg_AN=30932;CSQ_gnomADg_AF=0.2146;CSQ_gnomADe_AC=76650;CSQ_gnomADe_AN=246164;CSQ_gnomADe_AF=0.311378;CSQ_gnomADe_Hom=14817;CSQ_COSMICcMuts=COSV54330294;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=14;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=0.244;CSQ_Mastermind_MMID3=EP300:I971V&EP300:I997V;CSQ_CADD_PHRED=11.19 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:99,17:116:0.14655:65:-100:0.1773:1,10,1,0,2,3,14,42,10,15,15,20:100:100 +22 41551039 . T A 100 PASS DP=136;CSQ_Allele=A;CSQ_SYMBOL=EP300;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=17/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.3183T>A;CSQ_HGVSp=NP_001420.2:p.Thr1061%3D;CSQ_HGVSg=22:g.41551039T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=93738;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency&Menke-Hennekam_syndrome_2&Colorectal_carcinoma¬_specified¬_provided;CSQ_gnomADg_AC=18276;CSQ_gnomADg_AN=30848;CSQ_gnomADg_AF=0.592453;CSQ_gnomADe_AC=163639;CSQ_gnomADe_AN=246234;CSQ_gnomADe_AF=0.664567;CSQ_gnomADe_Hom=55720;CSQ_COSMICcMuts=COSV54326782;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-28;CSQ_SpliceAI_pred_DP_AL=-41;CSQ_SpliceAI_pred_DP_DG=-25;CSQ_SpliceAI_pred_DP_DL=-28;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EP300:T1035T&EP300:T1061T;CSQ_CADD_PHRED=6.495 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,81:136:0.59559:65:-100:0.1169:4,25,10,16,8,18,13,41,11,30,14,27:100:100 +22 41553259 . G A 100 PASS DP=149;CSQ_Allele=A;CSQ_SYMBOL=EP300;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.3348G>A;CSQ_HGVSp=NP_001420.2:p.Gln1116%3D;CSQ_HGVSg=22:g.41553259G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=158562;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency&Colorectal_carcinoma¬_specified¬_provided;CSQ_gnomADg_AC=1405;CSQ_gnomADg_AN=30966;CSQ_gnomADg_AF=0.0453723;CSQ_gnomADe_AC=6009;CSQ_gnomADe_AN=246176;CSQ_gnomADe_AF=0.0244094;CSQ_gnomADe_Hom=511;CSQ_COSMICcMuts=COSV54329375;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EP300:Q1090Q&EP300:Q1116Q;CSQ_CADD_PHRED=7.617 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:141,8:149:0.05369:65:-100:0.1437:1,2,1,3,0,1,21,55,15,26,6,26:85.443:100 +22 41564505 . T C 100 PASS DP=123;CSQ_Allele=C;CSQ_SYMBOL=EP300;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=24/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.3927T>C;CSQ_HGVSp=NP_001420.2:p.Phe1309%3D;CSQ_HGVSg=22:g.41564505T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54327487;CSQ_COSMICncMuts=COSV54327487&COSV54327487;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=13;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.82 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,8:123:0.06504:65:-100:0.1214:2,2,1,1,1,1,19,41,12,30,4,17:100:100 +22 41564549 . G C 100 PASS DP=135;CSQ_Allele=C;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.3971G>C;CSQ_HGVSp=NP_001420.2:p.Arg1324Thr;CSQ_HGVSg=22:g.41564549G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-11;CSQ_REVEL=0.859;CSQ_Mastermind_MMID3=EP300:R1324T;CSQ_CADD_PHRED=27.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:122,13:135:0.0963:65:-100:0.1176:2,3,3,2,0,3,23,44,12,30,8,18:100:100 +22 41565529 . G A 100 PASS DP=106;CSQ_Allele=A;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=26/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.4195G>A;CSQ_HGVSp=NP_001420.2:p.Asp1399Asn;CSQ_HGVSg=22:g.41565529G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=376401;CSQ_ClinVar_CLNSIG=Likely_pathogenic;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Medulloblastoma&Transitional_cell_carcinoma_of_the_bladder&Carcinoma_of_esophagus&Squamous_cell_lung_carcinoma&Neoplasm_of_uterine_cervix&Squamous_cell_carcinoma_of_the_head_and_neck;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54326888;CSQ_COSMICncMuts=COSV54326888;CSQ_CGC=TSG&fusion;CSQ_Hotspots=EP300:D1399;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-19;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=0.881;CSQ_Mastermind_MMID3=EP300:D1373N&EP300:D1399N;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,10:106:0.09434:65:-100:0.1719:3,1,3,1,1,1,21,32,10,17,12,14:100:100 +22 41565593 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=26/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.4259G>C;CSQ_HGVSp=NP_001420.2:p.Gly1420Ala;CSQ_HGVSg=22:g.41565593G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=27;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=27;CSQ_REVEL=0.900;CSQ_Mastermind_MMID3=EP300:G1420A;CSQ_CADD_PHRED=28.5 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:112,10:122:0.08197:65:-100:0.1757:2,1,1,2,2,2,24,36,11,21,16,14:100:100 +22 41566447 . G T 100 PASS DP=138;CSQ_Allele=T;CSQ_SYMBOL=EP300;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=27/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.4324G>T;CSQ_HGVSp=NP_001420.2:p.Glu1442Ter;CSQ_HGVSg=22:g.41566447G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.09;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-37;CSQ_SpliceAI_pred_DP_DL=-26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=EP300:E1442X;CSQ_CADD_PHRED=45 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:114,24:138:0.17391:65:-100:0.1834:2,9,2,4,1,6,19,46,12,24,11,26:100:100 +22 41566524 . CA C 100 PASS DP=113;CSQ_Allele=-;CSQ_SYMBOL=EP300;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=27/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.4408del;CSQ_HGVSp=NP_001420.2:p.Met1470CysfsTer26;CSQ_HGVSg=22:g.41566531del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54325609;CSQ_COSMICncMuts=COSV54325609&COSV54325609;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.08;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-33;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=50;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=34 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,19:113:0.16814:65:-100:0:0,6,1,5,1,6,8,36,12,18,14,25:100:100 +22 41568524 . G A 100 PASS DP=105;CSQ_Allele=A;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=28/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.4474G>A;CSQ_HGVSp=NP_001420.2:p.Glu1492Lys;CSQ_HGVSg=22:g.41568524G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=246118;CSQ_gnomADe_AF=4.06309e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.05;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=42;CSQ_SpliceAI_pred_DP_AL=-21;CSQ_SpliceAI_pred_DP_DG=42;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.839;CSQ_Mastermind_MMID3=EP300:E1492K;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,9:105:0.08571:65:-99.9461:0.1463:3,2,1,1,1,1,20,35,12,14,10,14:100:100 +22 41568531 . G A 100 PASS DP=111;CSQ_Allele=A;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=28/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.4481G>A;CSQ_HGVSp=NP_001420.2:p.Arg1494Lys;CSQ_HGVSg=22:g.41568531G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=17;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=35;CSQ_SpliceAI_pred_DP_DL=-27;CSQ_REVEL=0.511;CSQ_Mastermind_MMID3=EP300:R1494K;CSQ_CADD_PHRED=25.4 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,9:111:0.08108:65:-100:0.1395:3,1,2,1,1,1,21,35,13,16,10,16:100:100 +22 41568623 . G A 100 PASS DP=132;CSQ_Allele=A;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=28/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.4573G>A;CSQ_HGVSp=NP_001420.2:p.Glu1525Lys;CSQ_HGVSg=22:g.41568623G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV104550818;CSQ_COSMICncMuts=COSV104550818&COSV104550818;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=13;CSQ_SpliceAI_pred_DP_AL=-29;CSQ_SpliceAI_pred_DP_DG=49;CSQ_SpliceAI_pred_DP_DL=44;CSQ_REVEL=0.630;CSQ_Mastermind_MMID3=EP300:E1525K;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:118,14:132:0.10606:65:-100:0.1316:4,3,2,2,2,1,30,36,12,24,11,19:100:100 +22 41572809 . TA T 100 PASS DP=115;CSQ_Allele=-;CSQ_SYMBOL=EP300;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=31/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.5099del;CSQ_HGVSp=NP_001420.2:p.Asn1700ThrfsTer9;CSQ_HGVSg=22:g.41572814del;CSQ_HGVS_OFFSET=4;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54325361;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-1;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:107,8:115:0.06957:65:-99.9461:0:1,1,1,1,2,2,18,34,9,18,12,24:100:100 +22 41572995 . G C 100 PASS DP=122;CSQ_Allele=C;CSQ_SYMBOL=EP300;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=31/31;CSQ_INTRON=.;CSQ_Feature=NM_001429.4;CSQ_HGVSc=NM_001429.4:c.5280G>C;CSQ_HGVSp=NP_001420.2:p.Lys1760Asn;CSQ_HGVSg=22:g.41572995G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-2;CSQ_SpliceAI_pred_DP_AL=-38;CSQ_SpliceAI_pred_DP_DG=5;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=0.688;CSQ_Mastermind_MMID3=EP300:K1760N;CSQ_CADD_PHRED=24.2 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,11:122:0.09016:65:-100:0.1867:1,3,0,2,1,4,15,41,9,20,5,32:100:100 +X 1331495 . G C 100 PASS DP=102;CSQ_Allele=C;CSQ_SYMBOL=CRLF2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_022148.4;CSQ_HGVSc=NM_022148.4:c.33C>G;CSQ_HGVSp=NP_071431.2:p.Ala11%3D;CSQ_HGVSg=X:g.1331495G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6348;CSQ_gnomADg_AN=30554;CSQ_gnomADg_AF=0.207763;CSQ_gnomADe_AC=52458;CSQ_gnomADe_AN=245174;CSQ_gnomADe_AF=0.213962;CSQ_gnomADe_Hom=6357;CSQ_COSMICcMuts=COSV67493704&COSV67493704;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.743 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,27:102:0.26471:65:-100:0.1429:6,9,4,3,0,5,23,32,14,11,8,14:100:100 +X 1331495 . G C 100 PASS DP=102;CSQ_Allele=C;CSQ_SYMBOL=CRLF2;CSQ_Consequence=non_coding_transcript_exon_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/6;CSQ_INTRON=.;CSQ_Feature=NR_110830.2;CSQ_HGVSc=NR_110830.2:n.48C>G;CSQ_HGVSp=.;CSQ_HGVSg=X:g.1331495G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=6348;CSQ_gnomADg_AN=30554;CSQ_gnomADg_AF=0.207763;CSQ_gnomADe_AC=52458;CSQ_gnomADe_AN=245174;CSQ_gnomADe_AF=0.213962;CSQ_gnomADe_Hom=6357;CSQ_COSMICcMuts=COSV67493704&COSV67493704;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-50;CSQ_SpliceAI_pred_DP_DL=-46;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=4.743 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:75,27:102:0.26471:65:-100:0.1429:6,9,4,3,0,5,23,32,14,11,8,14:100:100 +X 15821835 . G A 100 PASS DP=63;CSQ_Allele=A;CSQ_SYMBOL=ZRSR2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/11;CSQ_INTRON=.;CSQ_Feature=NM_005089.4;CSQ_HGVSc=NM_005089.4:c.228G>A;CSQ_HGVSp=NP_005080.1:p.Leu76%3D;CSQ_HGVSg=X:g.15821835G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57063713;CSQ_COSMICncMuts=COSV57063713;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.01;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=-24;CSQ_SpliceAI_pred_DP_DG=-24;CSQ_SpliceAI_pred_DP_DL=33;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=8.688 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:51,12:63:0.19048:65:-100:0.1923:2,3,1,4,1,1,9,22,9,13,5,5:100:100 +X 15838366 . C T 100 PASS DP=104;CSQ_Allele=T;CSQ_SYMBOL=ZRSR2;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/11;CSQ_INTRON=.;CSQ_Feature=NM_005089.4;CSQ_HGVSc=NM_005089.4:c.864C>T;CSQ_HGVSp=NP_005080.1:p.Asn288%3D;CSQ_HGVSg=X:g.15838366C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=11127;CSQ_gnomADg_AN=21396;CSQ_gnomADg_AF=0.52005;CSQ_gnomADe_AC=94121;CSQ_gnomADe_AN=178136;CSQ_gnomADe_AF=0.528366;CSQ_gnomADe_Hom=15623;CSQ_COSMICcMuts=COSV57063497;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.03;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-38;CSQ_SpliceAI_pred_DP_AL=-36;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ZRSR2:N288N;CSQ_CADD_PHRED=6.811 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:53,51:104:0.49038:65:-100:0.1475:11,15,8,10,2,5,22,36,10,14,10,12:100:100 +X 20153883 . A G 100 PASS DP=86;CSQ_Allele=G;CSQ_SYMBOL=EIF1AX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/7;CSQ_INTRON=.;CSQ_Feature=NM_001412.4;CSQ_HGVSc=NM_001412.4:c.177T>C;CSQ_HGVSp=NP_001403.1:p.Cys59%3D;CSQ_HGVSg=X:g.20153883A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV63309280&COSV63309280;CSQ_COSMICncMuts=COSV63309280&COSV63309280&COSV63309280;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=8;CSQ_SpliceAI_pred_DP_AL=-9;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=7;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=12.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:71,15:86:0.17442:65:-100:0.0851:3,5,3,2,0,2,13,30,13,11,7,12:100:100 +X 39932907 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=BCOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/15;CSQ_INTRON=.;CSQ_Feature=NM_001123383.1;CSQ_HGVSc=NM_001123383.1:c.1692A>G;CSQ_HGVSp=NP_001116855.1:p.Ala564%3D;CSQ_HGVSg=X:g.39932907T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95766;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oculofaciocardiodental_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=7127;CSQ_gnomADg_AN=21545;CSQ_gnomADg_AF=0.330796;CSQ_gnomADe_AC=44406;CSQ_gnomADe_AN=178072;CSQ_gnomADe_AF=0.249371;CSQ_gnomADe_Hom=6699;CSQ_COSMICcMuts=COSV60701032&COSV60701032&COSV60701032&COSV60701032;CSQ_COSMICncMuts=COSV60701032;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCOR:A564A;CSQ_CADD_PHRED=0.227 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,23:111:0.20721:65:-100:0.1048:4,8,1,5,3,2,17,35,2,21,17,19:100:100 +X 39932907 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=BCOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/14;CSQ_INTRON=.;CSQ_Feature=NM_001123384.2;CSQ_HGVSc=NM_001123384.2:c.1692A>G;CSQ_HGVSp=NP_001116856.1:p.Ala564%3D;CSQ_HGVSg=X:g.39932907T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95766;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oculofaciocardiodental_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=7127;CSQ_gnomADg_AN=21545;CSQ_gnomADg_AF=0.330796;CSQ_gnomADe_AC=44406;CSQ_gnomADe_AN=178072;CSQ_gnomADe_AF=0.249371;CSQ_gnomADe_Hom=6699;CSQ_COSMICcMuts=COSV60701032&COSV60701032&COSV60701032&COSV60701032;CSQ_COSMICncMuts=COSV60701032;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCOR:A564A;CSQ_CADD_PHRED=0.227 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,23:111:0.20721:65:-100:0.1048:4,8,1,5,3,2,17,35,2,21,17,19:100:100 +X 39932907 . T C 100 PASS DP=111;CSQ_Allele=C;CSQ_SYMBOL=BCOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/15;CSQ_INTRON=.;CSQ_Feature=NM_001123385.2;CSQ_HGVSc=NM_001123385.2:c.1692A>G;CSQ_HGVSp=NP_001116857.1:p.Ala564%3D;CSQ_HGVSg=X:g.39932907T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95766;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oculofaciocardiodental_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=7127;CSQ_gnomADg_AN=21545;CSQ_gnomADg_AF=0.330796;CSQ_gnomADe_AC=44406;CSQ_gnomADe_AN=178072;CSQ_gnomADe_AF=0.249371;CSQ_gnomADe_Hom=6699;CSQ_COSMICcMuts=COSV60701032&COSV60701032&COSV60701032&COSV60701032;CSQ_COSMICncMuts=COSV60701032;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=16;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCOR:A564A;CSQ_CADD_PHRED=0.227 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,23:111:0.20721:65:-100:0.1048:4,8,1,5,3,2,17,35,2,21,17,19:100:100 +X 39933339 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=BCOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/15;CSQ_INTRON=.;CSQ_Feature=NM_001123383.1;CSQ_HGVSc=NM_001123383.1:c.1260T>C;CSQ_HGVSp=NP_001116855.1:p.Asp420%3D;CSQ_HGVSg=X:g.39933339A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95764;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oculofaciocardiodental_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=19652;CSQ_gnomADg_AN=21471;CSQ_gnomADg_AF=0.915281;CSQ_gnomADe_AC=159614;CSQ_gnomADe_AN=177936;CSQ_gnomADe_AF=0.89703;CSQ_gnomADe_Hom=45661;CSQ_COSMICcMuts=COSV60699640&COSV60699640&COSV60699640&COSV60699640;CSQ_COSMICncMuts=COSV60699640;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCOR:D420D;CSQ_CADD_PHRED=1.880 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,89:101:0.88119:65:-100:0.1293:15,27,5,16,9,17,17,33,6,18,9,18:100:100 +X 39933339 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=BCOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/14;CSQ_INTRON=.;CSQ_Feature=NM_001123384.2;CSQ_HGVSc=NM_001123384.2:c.1260T>C;CSQ_HGVSp=NP_001116856.1:p.Asp420%3D;CSQ_HGVSg=X:g.39933339A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95764;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oculofaciocardiodental_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=19652;CSQ_gnomADg_AN=21471;CSQ_gnomADg_AF=0.915281;CSQ_gnomADe_AC=159614;CSQ_gnomADe_AN=177936;CSQ_gnomADe_AF=0.89703;CSQ_gnomADe_Hom=45661;CSQ_COSMICcMuts=COSV60699640&COSV60699640&COSV60699640&COSV60699640;CSQ_COSMICncMuts=COSV60699640;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCOR:D420D;CSQ_CADD_PHRED=1.880 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,89:101:0.88119:65:-100:0.1293:15,27,5,16,9,17,17,33,6,18,9,18:100:100 +X 39933339 . A G 100 PASS DP=101;CSQ_Allele=G;CSQ_SYMBOL=BCOR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/15;CSQ_INTRON=.;CSQ_Feature=NM_001123385.2;CSQ_HGVSc=NM_001123385.2:c.1260T>C;CSQ_HGVSp=NP_001116857.1:p.Asp420%3D;CSQ_HGVSg=X:g.39933339A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95764;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Oculofaciocardiodental_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=19652;CSQ_gnomADg_AN=21471;CSQ_gnomADg_AF=0.915281;CSQ_gnomADe_AC=159614;CSQ_gnomADe_AN=177936;CSQ_gnomADe_AF=0.89703;CSQ_gnomADe_Hom=45661;CSQ_COSMICcMuts=COSV60699640&COSV60699640&COSV60699640&COSV60699640;CSQ_COSMICncMuts=COSV60699640;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-17;CSQ_SpliceAI_pred_DP_DL=-45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCOR:D420D;CSQ_CADD_PHRED=1.880 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:12,89:101:0.88119:65:-100:0.1293:15,27,5,16,9,17,17,33,6,18,9,18:100:100 +X 39934318 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=BCOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/15;CSQ_INTRON=.;CSQ_Feature=NM_001123383.1;CSQ_HGVSc=NM_001123383.1:c.281G>A;CSQ_HGVSp=NP_001116855.1:p.Cys94Tyr;CSQ_HGVSg=X:g.39934318C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60704468&COSV60704468&COSV60704468&COSV60704468;CSQ_COSMICncMuts=COSV60704468;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.536;CSQ_Mastermind_MMID3=BCOR:C94Y;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,12:120:0.1:65:-100:0.0909:1,6,0,2,0,3,17,52,7,12,13,19:100:100 +X 39934318 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=BCOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/14;CSQ_INTRON=.;CSQ_Feature=NM_001123384.2;CSQ_HGVSc=NM_001123384.2:c.281G>A;CSQ_HGVSp=NP_001116856.1:p.Cys94Tyr;CSQ_HGVSg=X:g.39934318C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60704468&COSV60704468&COSV60704468&COSV60704468;CSQ_COSMICncMuts=COSV60704468;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.536;CSQ_Mastermind_MMID3=BCOR:C94Y;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,12:120:0.1:65:-100:0.0909:1,6,0,2,0,3,17,52,7,12,13,19:100:100 +X 39934318 . C T 100 PASS DP=120;CSQ_Allele=T;CSQ_SYMBOL=BCOR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/15;CSQ_INTRON=.;CSQ_Feature=NM_001123385.2;CSQ_HGVSc=NM_001123385.2:c.281G>A;CSQ_HGVSp=NP_001116857.1:p.Cys94Tyr;CSQ_HGVSg=X:g.39934318C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV60704468&COSV60704468&COSV60704468&COSV60704468;CSQ_COSMICncMuts=COSV60704468;CSQ_CGC=TSG&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=3;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=0.536;CSQ_Mastermind_MMID3=BCOR:C94Y;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,12:120:0.1:65:-100:0.0909:1,6,0,2,0,3,17,52,7,12,13,19:100:100 +X 44929077 . C A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=KDM6A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=18/30;CSQ_INTRON=.;CSQ_Feature=NM_001291415.2;CSQ_HGVSc=NM_001291415.2:c.2333C>A;CSQ_HGVSp=NP_001278344.1:p.Thr778Lys;CSQ_HGVSg=X:g.44929077C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134597;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Kabuki_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=2522;CSQ_gnomADg_AN=21429;CSQ_gnomADg_AF=0.117691;CSQ_gnomADe_AC=23563;CSQ_gnomADe_AN=176940;CSQ_gnomADe_AF=0.133169;CSQ_gnomADe_Hom=1325;CSQ_COSMICcMuts=COSV65036981&COSV65036981&COSV65036981&COSV65036981;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=0.058;CSQ_Mastermind_MMID3=KDM6A:T430K&KDM6A:T647K&KDM6A:T681K&KDM6A:T726K&KDM6A:T733K&KDM6A:T778K;CSQ_CADD_PHRED=11.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,25:130:0.19231:65:-100:0.1275:3,15,1,2,2,2,20,52,5,21,13,19:100:100 +X 44929077 . C A 100 PASS DP=130;CSQ_Allele=A;CSQ_SYMBOL=KDM6A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=15/27;CSQ_INTRON=.;CSQ_Feature=NM_001291418.2;CSQ_HGVSc=NM_001291418.2:c.1940C>A;CSQ_HGVSp=NP_001278347.1:p.Thr647Lys;CSQ_HGVSg=X:g.44929077C>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=134597;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Kabuki_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=2522;CSQ_gnomADg_AN=21429;CSQ_gnomADg_AF=0.117691;CSQ_gnomADe_AC=23563;CSQ_gnomADe_AN=176940;CSQ_gnomADe_AF=0.133169;CSQ_gnomADe_Hom=1325;CSQ_COSMICcMuts=COSV65036981&COSV65036981&COSV65036981&COSV65036981;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=2;CSQ_SpliceAI_pred_DP_AL=-27;CSQ_SpliceAI_pred_DP_DG=1;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=0.058;CSQ_Mastermind_MMID3=KDM6A:T430K&KDM6A:T647K&KDM6A:T681K&KDM6A:T726K&KDM6A:T733K&KDM6A:T778K;CSQ_CADD_PHRED=11.98 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:105,25:130:0.19231:65:-100:0.1275:3,15,1,2,2,2,20,52,5,21,13,19:100:100 +X 44938563 . G A 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=KDM6A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=21/30;CSQ_INTRON=.;CSQ_Feature=NM_001291415.2;CSQ_HGVSc=NM_001291415.2:c.3267G>A;CSQ_HGVSp=NP_001278344.1:p.Gln1089%3D;CSQ_HGVSg=X:g.44938563G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=158689;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Kabuki_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=3461;CSQ_gnomADg_AN=21097;CSQ_gnomADg_AF=0.164052;CSQ_gnomADe_AC=44872;CSQ_gnomADe_AN=178030;CSQ_gnomADe_AF=0.252047;CSQ_gnomADe_Hom=4970;CSQ_COSMICcMuts=COSV65037388&COSV65037388&COSV65037388&COSV65037388;CSQ_COSMICncMuts=COSV65037388&COSV65037388;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KDM6A:Q1037Q&KDM6A:Q1044Q&KDM6A:Q1089Q&KDM6A:Q741Q&KDM6A:Q958Q&KDM6A:Q992Q;CSQ_CADD_PHRED=8.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,43:89:0.48315:65:-100:0.1442:9,15,4,2,2,11,17,29,12,4,5,22:100:100 +X 44938563 . G A 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=KDM6A;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/27;CSQ_INTRON=.;CSQ_Feature=NM_001291418.2;CSQ_HGVSc=NM_001291418.2:c.2874G>A;CSQ_HGVSp=NP_001278347.1:p.Gln958%3D;CSQ_HGVSg=X:g.44938563G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=158689;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Kabuki_syndrome_2¬_specified¬_provided;CSQ_gnomADg_AC=3461;CSQ_gnomADg_AN=21097;CSQ_gnomADg_AF=0.164052;CSQ_gnomADe_AC=44872;CSQ_gnomADe_AN=178030;CSQ_gnomADe_AF=0.252047;CSQ_gnomADe_Hom=4970;CSQ_COSMICcMuts=COSV65037388&COSV65037388&COSV65037388&COSV65037388;CSQ_COSMICncMuts=COSV65037388&COSV65037388;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=KDM6A:Q1037Q&KDM6A:Q1044Q&KDM6A:Q1089Q&KDM6A:Q741Q&KDM6A:Q958Q&KDM6A:Q992Q;CSQ_CADD_PHRED=8.554 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:46,43:89:0.48315:65:-100:0.1442:9,15,4,2,2,11,17,29,12,4,5,22:100:100 +X 47041246 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=RBM10;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=14/23;CSQ_INTRON=.;CSQ_Feature=NM_001204466.2;CSQ_HGVSc=NM_001204466.2:c.1443G>A;CSQ_HGVSp=NP_001191395.1:p.Gln481%3D;CSQ_HGVSg=X:g.47041246G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,6:102:0.05882:65:-99.7552:0.1282:1,2,2,0,1,0,18,47,9,19,5,4:76.262:100 +X 47041246 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=RBM10;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/24;CSQ_INTRON=.;CSQ_Feature=NM_001204467.2;CSQ_HGVSc=NM_001204467.2:c.1671G>A;CSQ_HGVSp=NP_001191396.1:p.Gln557%3D;CSQ_HGVSg=X:g.47041246G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,6:102:0.05882:65:-99.7552:0.1282:1,2,2,0,1,0,18,47,9,19,5,4:76.262:100 +X 47041246 . G A 100 PASS DP=102;CSQ_Allele=A;CSQ_SYMBOL=RBM10;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=15/24;CSQ_INTRON=.;CSQ_Feature=NM_001204468.2;CSQ_HGVSc=NM_001204468.2:c.1869G>A;CSQ_HGVSp=NP_001191397.1:p.Gln623%3D;CSQ_HGVSg=X:g.47041246G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-12;CSQ_SpliceAI_pred_DP_DG=16;CSQ_SpliceAI_pred_DP_DL=14;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.838 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,6:102:0.05882:65:-99.7552:0.1282:1,2,2,0,1,0,18,47,9,19,5,4:76.262:100 +X 47045888 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=RBM10;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/23;CSQ_INTRON=.;CSQ_Feature=NM_001204466.2;CSQ_HGVSc=NM_001204466.2:c.2452C>T;CSQ_HGVSp=NP_001191395.1:p.Arg818Trp;CSQ_HGVSg=X:g.47045888C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61310404&COSV61310404&COSV61310404;CSQ_COSMICncMuts=COSV61310404&COSV61310404&COSV61310404&COSV61310404&COSV61310404;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.233;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,7:122:0.05738:65:-98.3625:0.1223:0,4,1,1,1,0,12,42,15,22,10,21:84.931:100 +X 47045888 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=RBM10;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/24;CSQ_INTRON=.;CSQ_Feature=NM_001204467.2;CSQ_HGVSc=NM_001204467.2:c.2680C>T;CSQ_HGVSp=NP_001191396.1:p.Arg894Trp;CSQ_HGVSg=X:g.47045888C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61310404&COSV61310404&COSV61310404;CSQ_COSMICncMuts=COSV61310404&COSV61310404&COSV61310404&COSV61310404&COSV61310404;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.233;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,7:122:0.05738:65:-98.3625:0.1223:0,4,1,1,1,0,12,42,15,22,10,21:84.931:100 +X 47045888 . C T 100 PASS DP=122;CSQ_Allele=T;CSQ_SYMBOL=RBM10;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=24/24;CSQ_INTRON=.;CSQ_Feature=NM_001204468.2;CSQ_HGVSc=NM_001204468.2:c.2878C>T;CSQ_HGVSp=NP_001191397.1:p.Arg960Trp;CSQ_HGVSg=X:g.47045888C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61310404&COSV61310404&COSV61310404;CSQ_COSMICncMuts=COSV61310404&COSV61310404&COSV61310404&COSV61310404&COSV61310404;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=-43;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=-4;CSQ_REVEL=0.233;CSQ_Mastermind_MMID3=RBM10:R895W&RBM10:R960W;CSQ_CADD_PHRED=32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:115,7:122:0.05738:65:-98.3625:0.1223:0,4,1,1,1,0,12,42,15,22,10,21:84.931:100 +X 47424280 . G A 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=ARAF;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/16;CSQ_INTRON=.;CSQ_Feature=NM_001256196.2;CSQ_HGVSc=NM_001256196.2:c.285G>A;CSQ_HGVSp=NP_001243125.1:p.Pro95%3D;CSQ_HGVSg=X:g.47424280G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51691385&COSV51691385&COSV51691385;CSQ_COSMICncMuts=COSV51691385;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=29;CSQ_SpliceAI_pred_DP_AL=1;CSQ_SpliceAI_pred_DP_DG=-18;CSQ_SpliceAI_pred_DP_DL=18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=ARAF:P95P;CSQ_CADD_PHRED=9.416 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:76,13:89:0.14607:65:-100:0.0825:4,3,3,0,1,2,22,26,10,13,5,13:100:100 +X 47426414 . AC A 100 PASS DP=97;CSQ_Allele=-;CSQ_SYMBOL=ARAF;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/16;CSQ_INTRON=.;CSQ_Feature=NM_001256196.2;CSQ_HGVSc=NM_001256196.2:c.772del;CSQ_HGVSp=NP_001243125.1:p.Arg258GlyfsTer37;CSQ_HGVSg=X:g.47426420del;CSQ_HGVS_OFFSET=5;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV51691326&COSV51691326;CSQ_COSMICncMuts=COSV51691326&COSV51691326&COSV51691326&COSV51691326&COSV51691326&COSV51691326;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-30;CSQ_SpliceAI_pred_DP_AL=19;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-13;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,13:97:0.13402:65:-100:0:2,5,1,3,0,2,15,40,7,16,4,15:100:100 +X 48886788 . T A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=TFE3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001282142.2;CSQ_HGVSc=NM_001282142.2:c.*881A>T;CSQ_HGVSp=.;CSQ_HGVSg=X:g.48886788T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.672 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,9:110:0.08182:65:-100:0.1406:2,5,0,0,2,0,20,38,8,15,13,16:100:100 +X 48886788 . T A 100 PASS DP=110;CSQ_Allele=A;CSQ_SYMBOL=TFE3;CSQ_Consequence=3_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_006521.6;CSQ_HGVSc=NM_006521.6:c.*881A>T;CSQ_HGVSp=.;CSQ_HGVSg=X:g.48886788T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-9;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-21;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=7.672 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,9:110:0.08182:65:-100:0.1406:2,5,0,0,2,0,20,38,8,15,13,16:100:100 +X 48887780 . AC A 100 PASS DP=71;CSQ_Allele=-;CSQ_SYMBOL=TFE3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001282142.2;CSQ_HGVSc=NM_001282142.2:c.1301del;CSQ_HGVSp=NP_001269071.1:p.Gly434ValfsTer209;CSQ_HGVSg=X:g.48887786del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59947593;CSQ_COSMICncMuts=COSV59947593&COSV59947593;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,9:71:0.12676:65:-50.8503:0:1,6,0,0,0,2,20,21,6,6,5,13:100:100 +X 48887780 . AC A 100 PASS DP=71;CSQ_Allele=-;CSQ_SYMBOL=TFE3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_006521.6;CSQ_HGVSc=NM_006521.6:c.1616del;CSQ_HGVSp=NP_006512.2:p.Gly539ValfsTer209;CSQ_HGVSg=X:g.48887786del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59947593;CSQ_COSMICncMuts=COSV59947593&COSV59947593;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.01;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-48;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:62,9:71:0.12676:65:-50.8503:0:1,6,0,0,0,2,20,21,6,6,5,13:100:100 +X 48888074 . T C 100 PASS DP=91;CSQ_Allele=C;CSQ_SYMBOL=TFE3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_001282142.2;CSQ_HGVSc=NM_001282142.2:c.1008A>G;CSQ_HGVSp=NP_001269071.1:p.Val336%3D;CSQ_HGVSg=X:g.48888074T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7480;CSQ_gnomADg_AN=21050;CSQ_gnomADg_AF=0.355344;CSQ_gnomADe_AC=68320;CSQ_gnomADe_AN=175099;CSQ_gnomADe_AF=0.390179;CSQ_gnomADe_Hom=9537;CSQ_COSMICcMuts=COSV59947496;CSQ_COSMICncMuts=COSV59947496;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TFE3:V336V&TFE3:V441V;CSQ_CADD_PHRED=10.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,36:91:0.3956:65:-100:0.1333:6,15,4,6,2,3,14,30,6,15,7,19:100:100 +X 48888074 . T C 100 PASS DP=91;CSQ_Allele=C;CSQ_SYMBOL=TFE3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=10/10;CSQ_INTRON=.;CSQ_Feature=NM_006521.6;CSQ_HGVSc=NM_006521.6:c.1323A>G;CSQ_HGVSp=NP_006512.2:p.Val441%3D;CSQ_HGVSg=X:g.48888074T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=7480;CSQ_gnomADg_AN=21050;CSQ_gnomADg_AF=0.355344;CSQ_gnomADe_AC=68320;CSQ_gnomADe_AN=175099;CSQ_gnomADe_AF=0.390179;CSQ_gnomADe_Hom=9537;CSQ_COSMICcMuts=COSV59947496;CSQ_COSMICncMuts=COSV59947496;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=31;CSQ_SpliceAI_pred_DP_DG=28;CSQ_SpliceAI_pred_DP_DL=3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=TFE3:V336V&TFE3:V441V;CSQ_CADD_PHRED=10.80 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:55,36:91:0.3956:65:-100:0.1333:6,15,4,6,2,3,14,30,6,15,7,19:100:100 +X 48892694 . A G 100 PASS DP=36;CSQ_Allele=G;CSQ_SYMBOL=TFE3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/9;CSQ_Feature=NM_001282142.2;CSQ_HGVSc=NM_001282142.2:c.571-928T>C;CSQ_HGVSp=.;CSQ_HGVSg=X:g.48892694A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19375;CSQ_gnomADg_AN=19503;CSQ_gnomADg_AF=0.993437;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.136 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,36:36:1:65:-100:0.4706:5,9,8,5,7,2,5,9,8,5,7,2:100:100 +X 48892694 . A G 100 PASS DP=36;CSQ_Allele=G;CSQ_SYMBOL=TFE3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/9;CSQ_Feature=NM_006521.6;CSQ_HGVSc=NM_006521.6:c.886-928T>C;CSQ_HGVSp=.;CSQ_HGVSg=X:g.48892694A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=19375;CSQ_gnomADg_AN=19503;CSQ_gnomADg_AF=0.993437;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=41;CSQ_SpliceAI_pred_DP_AL=-33;CSQ_SpliceAI_pred_DP_DG=-22;CSQ_SpliceAI_pred_DP_DL=-1;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.136 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,36:36:1:65:-100:0.4706:5,9,8,5,7,2,5,9,8,5,7,2:100:100 +X 48894024 . A T 100 PASS DP=60;CSQ_Allele=T;CSQ_SYMBOL=TFE3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/9;CSQ_Feature=NM_001282142.2;CSQ_HGVSc=NM_001282142.2:c.570+1511T>A;CSQ_HGVSp=.;CSQ_HGVSg=X:g.48894024A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.940 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,11:60:0.18333:65:-100:0.3407:1,1,2,1,2,4,2,3,12,12,12,19:100:100 +X 48894024 . A T 100 PASS DP=60;CSQ_Allele=T;CSQ_SYMBOL=TFE3;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=5/9;CSQ_Feature=NM_006521.6;CSQ_HGVSc=NM_006521.6:c.885+1511T>A;CSQ_HGVSp=.;CSQ_HGVSg=X:g.48894024A>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-42;CSQ_SpliceAI_pred_DP_DG=-36;CSQ_SpliceAI_pred_DP_DL=16;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.940 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:49,11:60:0.18333:65:-100:0.3407:1,1,2,1,2,4,2,3,12,12,12,19:100:100 +X 48896683 . GC G 100 PASS DP=106;CSQ_Allele=-;CSQ_SYMBOL=TFE3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_001282142.2;CSQ_HGVSc=NM_001282142.2:c.167del;CSQ_HGVSp=NP_001269071.1:p.Gly56AlafsTer4;CSQ_HGVSg=X:g.48896688del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59945827;CSQ_COSMICncMuts=COSV59945827;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,9:106:0.08491:65:-100:0:4,1,0,2,1,1,23,32,7,23,9,12:100:100 +X 48896683 . GC G 100 PASS DP=106;CSQ_Allele=-;CSQ_SYMBOL=TFE3;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=3/10;CSQ_INTRON=.;CSQ_Feature=NM_006521.6;CSQ_HGVSc=NM_006521.6:c.482del;CSQ_HGVSp=NP_006512.2:p.Gly161AlafsTer4;CSQ_HGVSg=X:g.48896688del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV59945827;CSQ_COSMICncMuts=COSV59945827;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-32;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-31;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:97,9:106:0.08491:65:-100:0:4,1,0,2,1,1,23,32,7,23,9,12:100:100 +X 48900900 . T G 100 PASS DP=45;CSQ_Allele=G;CSQ_SYMBOL=TFE3;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001282142.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=X:g.48900900T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20324;CSQ_gnomADg_AN=20324;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,45:45:1:65:-100:0.4:13,9,9,7,5,2,13,9,9,7,5,2:100:100 +X 48900900 . T G 100 PASS DP=45;CSQ_Allele=G;CSQ_SYMBOL=TFE3;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_006521.6;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=X:g.48900900T>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=20324;CSQ_gnomADg_AN=20324;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&fusion;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-21;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=8;CSQ_SpliceAI_pred_DP_DL=-19;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=17.35 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,45:45:1:65:-100:0.4:13,9,9,7,5,2,13,9,9,7,5,2:100:100 +X 53223691 . G A 100 PASS DP=99;CSQ_Allele=A;CSQ_SYMBOL=KDM5C;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=21/24;CSQ_INTRON=.;CSQ_Feature=NM_001146702.2;CSQ_HGVSc=NM_001146702.2:c.3467C>T;CSQ_HGVSp=NP_001140174.1:p.Pro1156Leu;CSQ_HGVSg=X:g.53223691G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=916370;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Spastic_paraplegia&Inborn_genetic_diseases¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64770780&COSV64770780&COSV64770780&COSV64770780&COSV64770780;CSQ_COSMICncMuts=COSV64770780&COSV64770780;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=0.051;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,14:99:0.14141:65:-100:0.175:3,4,0,3,2,2,11,36,9,20,7,16:100:100 +X 53223691 . G A 100 PASS DP=99;CSQ_Allele=A;CSQ_SYMBOL=KDM5C;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/26;CSQ_INTRON=.;CSQ_Feature=NM_001282622.3;CSQ_HGVSc=NM_001282622.3:c.3665C>T;CSQ_HGVSp=NP_001269551.1:p.Pro1222Leu;CSQ_HGVSg=X:g.53223691G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=916370;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Spastic_paraplegia&Inborn_genetic_diseases¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64770780&COSV64770780&COSV64770780&COSV64770780&COSV64770780;CSQ_COSMICncMuts=COSV64770780&COSV64770780;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=0.051;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=16.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,14:99:0.14141:65:-100:0.175:3,4,0,3,2,2,11,36,9,20,7,16:100:100 +X 53223691 . G A 100 PASS DP=99;CSQ_Allele=A;CSQ_SYMBOL=KDM5C;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/26;CSQ_INTRON=.;CSQ_Feature=NM_004187.5;CSQ_HGVSc=NM_004187.5:c.3668C>T;CSQ_HGVSp=NP_004178.2:p.Pro1223Leu;CSQ_HGVSg=X:g.53223691G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=916370;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Spastic_paraplegia&Inborn_genetic_diseases¬_provided;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64770780&COSV64770780&COSV64770780&COSV64770780&COSV64770780;CSQ_COSMICncMuts=COSV64770780&COSV64770780;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.02;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-27;CSQ_SpliceAI_pred_DP_AL=5;CSQ_SpliceAI_pred_DP_DG=33;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=0.051;CSQ_Mastermind_MMID3=KDM5C:P1223L;CSQ_CADD_PHRED=16.03 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,14:99:0.14141:65:-100:0.175:3,4,0,3,2,2,11,36,9,20,7,16:100:100 +X 53430830 . A G 100 PASS DP=93;CSQ_Allele=G;CSQ_SYMBOL=SMC1A;CSQ_Consequence=splice_region_variant&splice_polypyrimidine_tract_variant&intron_variant;CSQ_IMPACT=LOW;CSQ_EXON=.;CSQ_INTRON=13/24;CSQ_Feature=NM_006306.4;CSQ_HGVSc=NM_006306.4:c.2197-5T>C;CSQ_HGVSp=.;CSQ_HGVSg=X:g.53430830A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95365;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Congenital_muscular_hypertrophy-cerebral_syndrome&De_Lange_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=153;CSQ_gnomADg_AN=21769;CSQ_gnomADg_AF=0.00702834;CSQ_gnomADe_AC=4396;CSQ_gnomADe_AN=178526;CSQ_gnomADe_AF=0.0246239;CSQ_gnomADe_Hom=201;CSQ_COSMICcMuts=COSV59132427;CSQ_COSMICncMuts=COSV59132427;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=35;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=29;CSQ_SpliceAI_pred_DP_DL=-23;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMC1A:Q710int&SMC1A:Q710inta&SMC1A:Q710sra&SMC1A:Q732int&SMC1A:Q732inta&SMC1A:Q732sra;CSQ_CADD_PHRED=10.22 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,34:93:0.36559:65:-100:0.1622:5,13,2,4,3,7,21,30,7,15,6,14:100:100 +X 53441732 . T C 100 PASS DP=112;CSQ_Allele=C;CSQ_SYMBOL=SMC1A;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=3/25;CSQ_INTRON=.;CSQ_Feature=NM_006306.4;CSQ_HGVSc=NM_006306.4:c.386A>G;CSQ_HGVSp=NP_006297.2:p.Lys129Arg;CSQ_HGVSg=X:g.53441732T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1446961;CSQ_ClinVar_CLNSIG=Uncertain_significance;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Congenital_muscular_hypertrophy-cerebral_syndrome;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=178740;CSQ_gnomADe_AF=5.59472e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV59132280&COSV59132280;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=-26;CSQ_SpliceAI_pred_DP_DG=-27;CSQ_SpliceAI_pred_DP_DL=-25;CSQ_REVEL=0.666;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=24.1 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:100,12:112:0.10714:65:-100:0.1825:3,3,3,0,1,2,17,34,13,14,10,24:100:100 +X 53449568 . G A 100 PASS DP=89;CSQ_Allele=A;CSQ_SYMBOL=SMC1A;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/25;CSQ_INTRON=.;CSQ_Feature=NM_006306.4;CSQ_HGVSc=NM_006306.4:c.-19C>T;CSQ_HGVSp=.;CSQ_HGVSg=X:g.53449568G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=95364;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Congenital_muscular_hypertrophy-cerebral_syndrome&De_Lange_syndrome&Developmental_and_epileptic_encephalopathy&_85&_with_or_without_midline_brain_defects¬_specified¬_provided;CSQ_gnomADg_AC=9802;CSQ_gnomADg_AN=21443;CSQ_gnomADg_AF=0.457119;CSQ_gnomADe_AC=92317;CSQ_gnomADe_AN=176136;CSQ_gnomADe_AF=0.524123;CSQ_gnomADe_Hom=16053;CSQ_COSMICcMuts=COSV59127562&COSV59127562;CSQ_COSMICncMuts=COSV59127562&COSV59127562&COSV59127562&COSV59127562&COSV59127562;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=19;CSQ_SpliceAI_pred_DP_AL=33;CSQ_SpliceAI_pred_DP_DG=25;CSQ_SpliceAI_pred_DP_DL=-37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=SMC1A:5UTR;CSQ_CADD_PHRED=11.84 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:32,57:89:0.64045:65:-100:0.1442:11,20,6,7,2,11,19,23,10,11,9,17:100:100 +X 63410509 . A G 100 PASS DP=117;CSQ_Allele=G;CSQ_SYMBOL=AMER1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=2/2;CSQ_INTRON=.;CSQ_Feature=NM_152424.4;CSQ_HGVSc=NM_152424.4:c.2658T>C;CSQ_HGVSp=NP_689637.3:p.Ala886%3D;CSQ_HGVSg=X:g.63410509A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV57670333&COSV57670333&COSV57670333;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.469 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:108,9:117:0.07692:65:-100:0.1522:2,3,1,1,1,1,18,44,8,24,4,19:100:100 +X 66765627 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=AR;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000044.6;CSQ_HGVSc=NM_000044.6:c.639G>A;CSQ_HGVSp=NP_000035.2:p.Glu213%3D;CSQ_HGVSg=X:g.66765627G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=155758;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Kennedy_disease&Androgen_resistance_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5710;CSQ_gnomADg_AN=21441;CSQ_gnomADg_AF=0.266312;CSQ_gnomADe_AC=26675;CSQ_gnomADe_AN=176717;CSQ_gnomADe_AF=0.150948;CSQ_gnomADe_Hom=2642;CSQ_COSMICcMuts=COSV65952836&COSV65952836&COSV65952836;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AR:5UTR&AR:E213E;CSQ_CADD_PHRED=11.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,16:119:0.13445:65:-100:0.156:1,5,1,3,2,4,21,35,13,17,7,26:100:100 +X 66765627 . G A 100 PASS DP=119;CSQ_Allele=A;CSQ_SYMBOL=AR;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001011645.3;CSQ_HGVSc=NM_001011645.3:c.-1145G>A;CSQ_HGVSp=.;CSQ_HGVSg=X:g.66765627G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=155758;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Kennedy_disease&Androgen_resistance_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=5710;CSQ_gnomADg_AN=21441;CSQ_gnomADg_AF=0.266312;CSQ_gnomADe_AC=26675;CSQ_gnomADe_AN=176717;CSQ_gnomADe_AF=0.150948;CSQ_gnomADe_Hom=2642;CSQ_COSMICcMuts=COSV65952836&COSV65952836&COSV65952836;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-41;CSQ_SpliceAI_pred_DP_AL=41;CSQ_SpliceAI_pred_DP_DG=-9;CSQ_SpliceAI_pred_DP_DL=-36;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=11.74 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:103,16:119:0.13445:65:-100:0.156:1,5,1,3,2,4,21,35,13,17,7,26:100:100 +X 66765905 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=AR;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/8;CSQ_INTRON=.;CSQ_Feature=NM_000044.6;CSQ_HGVSc=NM_000044.6:c.917C>T;CSQ_HGVSp=NP_000035.2:p.Thr306Ile;CSQ_HGVSg=X:g.66765905C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65953509&COSV65953509&COSV65953509;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=0.361;CSQ_Mastermind_MMID3=AR:T306I;CSQ_CADD_PHRED=19.70 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,22:133:0.16541:65:-100:0.1074:4,6,1,3,3,5,20,46,9,21,9,28:100:100 +X 66765905 . C T 100 PASS DP=133;CSQ_Allele=T;CSQ_SYMBOL=AR;CSQ_Consequence=5_prime_UTR_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=1/9;CSQ_INTRON=.;CSQ_Feature=NM_001011645.3;CSQ_HGVSc=NM_001011645.3:c.-867C>T;CSQ_HGVSp=.;CSQ_HGVSg=X:g.66765905C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV65953509&COSV65953509&COSV65953509;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=23;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-19;CSQ_SpliceAI_pred_DP_DL=26;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=19.70 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:111,22:133:0.16541:65:-100:0.1074:4,6,1,3,3,5,20,46,9,21,9,28:100:100 +X 66777066 . G A 100 PASS DP=116;CSQ_Allele=A;CSQ_SYMBOL=AR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/7;CSQ_Feature=NM_000044.6;CSQ_HGVSc=NM_000044.6:c.1616+10462G>A;CSQ_HGVSp=.;CSQ_HGVSg=X:g.66777066G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3950;CSQ_gnomADg_AN=21209;CSQ_gnomADg_AF=0.186242;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AR:5UTR&AR:5UTRint&AR:5UTRintd&AR:R539int&AR:R539intd;CSQ_CADD_PHRED=0.356 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,25:116:0.21552:65:-100:0.1944:6,5,2,2,1,9,18,36,7,19,5,31:100:100 +X 66777066 . G A 100 PASS DP=116;CSQ_Allele=A;CSQ_SYMBOL=AR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=1/8;CSQ_Feature=NM_001011645.3;CSQ_HGVSc=NM_001011645.3:c.-168+10462G>A;CSQ_HGVSp=.;CSQ_HGVSg=X:g.66777066G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=3950;CSQ_gnomADg_AN=21209;CSQ_gnomADg_AF=0.186242;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-17;CSQ_SpliceAI_pred_DP_DG=-40;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=AR:5UTR&AR:5UTRint&AR:5UTRintd&AR:R539int&AR:R539intd;CSQ_CADD_PHRED=0.356 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,25:116:0.21552:65:-100:0.1944:6,5,2,2,1,9,18,36,7,19,5,31:100:100 +X 66909169 . TTC CTG 100 PASS DP=108;CSQ_Allele=CTG;CSQ_SYMBOL=AR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/7;CSQ_Feature=NM_000044.6;CSQ_HGVSc=NM_000044.6:c.1885+3201_1885+3203delinsCTG;CSQ_HGVSp=.;CSQ_HGVSg=X:g.66909169_66909171delinsCTG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,17:108:0.15741:65:-100:0:1,11,2,2,0,1,28,82,36,34,18,24:100:100 +X 66909169 . TTC CTG 100 PASS DP=108;CSQ_Allele=CTG;CSQ_SYMBOL=AR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/8;CSQ_Feature=NM_001011645.3;CSQ_HGVSc=NM_001011645.3:c.289+3201_289+3203delinsCTG;CSQ_HGVSp=.;CSQ_HGVSg=X:g.66909169_66909171delinsCTG;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:91,17:108:0.15741:65:-100:0:1,11,2,2,0,1,28,82,36,34,18,24:100:100 +X 66909171 . C G 100 PASS DP=105;CSQ_Allele=G;CSQ_SYMBOL=AR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=3/7;CSQ_Feature=NM_000044.6;CSQ_HGVSc=NM_000044.6:c.1885+3203C>G;CSQ_HGVSp=.;CSQ_HGVSg=X:g.66909171C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18528;CSQ_gnomADg_AN=21258;CSQ_gnomADg_AF=0.871578;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.940 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,88:105:0.8381:65:-100:0.1322:13,28,11,17,9,10,14,39,13,19,9,11:100:100 +X 66909171 . C G 100 PASS DP=105;CSQ_Allele=G;CSQ_SYMBOL=AR;CSQ_Consequence=intron_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=4/8;CSQ_Feature=NM_001011645.3;CSQ_HGVSc=NM_001011645.3:c.289+3203C>G;CSQ_HGVSp=.;CSQ_HGVSg=X:g.66909171C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=18528;CSQ_gnomADg_AN=21258;CSQ_gnomADg_AF=0.871578;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=7;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-34;CSQ_SpliceAI_pred_DP_DL=-20;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=0.940 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/.:100:0,88:105:0.8381:65:-100:0.1322:13,28,11,17,9,10,14,39,13,19,9,11:100:100 +X 70338656 . C T 100 PASS DP=76;CSQ_Allele=T;CSQ_SYMBOL=MED12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/45;CSQ_INTRON=.;CSQ_Feature=NM_005120.3;CSQ_HGVSc=NM_005120.3:c.52C>T;CSQ_HGVSp=NP_005111.2:p.Arg18Trp;CSQ_HGVSg=X:g.70338656C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61330944&COSV61330944&COSV61330944;CSQ_COSMICncMuts=COSV61330944;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=30;CSQ_SpliceAI_pred_DP_AL=-6;CSQ_SpliceAI_pred_DP_DG=44;CSQ_SpliceAI_pred_DP_DL=47;CSQ_REVEL=0.354;CSQ_Mastermind_MMID3=MED12:R18W;CSQ_CADD_PHRED=31 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:70,6:76:0.07895:65:-49.0894:0.2165:0,1,1,1,0,3,17,24,6,9,4,16:85.36:100 +X 70348151 . A G 100 PASS DP=108;CSQ_Allele=G;CSQ_SYMBOL=MED12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=23/45;CSQ_INTRON=.;CSQ_Feature=NM_005120.3;CSQ_HGVSc=NM_005120.3:c.3215A>G;CSQ_HGVSp=NP_005111.2:p.Asn1072Ser;CSQ_HGVSg=X:g.70348151A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61333199&COSV61333199&COSV61333199;CSQ_COSMICncMuts=COSV61333199&COSV61333199&COSV61333199&COSV61333199;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.08;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=24;CSQ_SpliceAI_pred_DP_AL=-5;CSQ_SpliceAI_pred_DP_DG=-5;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=0.270;CSQ_Mastermind_MMID3=MED12:N1072S;CSQ_CADD_PHRED=23.3 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:96,12:108:0.11111:65:-100:0.1628:2,8,0,1,0,1,16,39,6,17,15,15:100:100 +X 70349947 . A C 100 PASS DP=107;CSQ_Allele=C;CSQ_SYMBOL=MED12;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=28/45;CSQ_INTRON=.;CSQ_Feature=NM_005120.3;CSQ_HGVSc=NM_005120.3:c.3930A>C;CSQ_HGVSp=NP_005111.2:p.Pro1310%3D;CSQ_HGVSg=X:g.70349947A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=95248;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Blepharophimosis_-_intellectual_disability_syndrome&_MKB_type&FG_syndrome_1&X-linked_intellectual_disability_with_marfanoid_habitus&History_of_neurodevelopmental_disorder¬_specified&Cardiovascular_phenotype;CSQ_gnomADg_AC=4513;CSQ_gnomADg_AN=21559;CSQ_gnomADg_AF=0.209333;CSQ_gnomADe_AC=37443;CSQ_gnomADe_AN=170223;CSQ_gnomADe_AF=0.219964;CSQ_gnomADe_Hom=3566;CSQ_COSMICcMuts=COSV61340557&COSV61340557&COSV61340557;CSQ_COSMICncMuts=COSV61340557&COSV61340557&COSV61340557&COSV61340557;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.02;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=12;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=9;CSQ_SpliceAI_pred_DP_DL=2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=MED12:P1310P;CSQ_CADD_PHRED=10.38 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,14:107:0.13084:65:-100:0.123:1,4,1,3,1,4,14,39,12,19,8,15:100:100 +X 70356747 . G T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=MED12;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=38/45;CSQ_INTRON=.;CSQ_Feature=NM_005120.3;CSQ_HGVSc=NM_005120.3:c.5419G>T;CSQ_HGVSp=NP_005111.2:p.Gly1807Cys;CSQ_HGVSg=X:g.70356747G>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV61336089&COSV61336089&COSV61336089;CSQ_COSMICncMuts=COSV61336089;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-18;CSQ_SpliceAI_pred_DP_AL=28;CSQ_SpliceAI_pred_DP_DG=18;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.071;CSQ_Mastermind_MMID3=MED12:G1807C;CSQ_CADD_PHRED=17.70 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:94,7:101:0.06931:65:-47.5964:0.1583:3,3,0,1,0,0,17,29,10,24,9,12:73.484:100 +X 76763988 . C T 100 PASS DP=98;CSQ_Allele=T;CSQ_SYMBOL=ATRX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=35/35;CSQ_INTRON=.;CSQ_Feature=NM_000489.6;CSQ_HGVSc=NM_000489.6:c.7320G>A;CSQ_HGVSp=NP_000480.3:p.Lys2440%3D;CSQ_HGVSg=X:g.76763988C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1136090;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Alpha_thalassemia-X-linked_intellectual_disability_syndrome;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=21392;CSQ_gnomADg_AF=4.67464e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.686 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,19:98:0.19388:65:-100:0.125:1,8,4,3,1,2,13,29,9,28,6,13:100:100 +X 76763988 . C T 100 PASS DP=98;CSQ_Allele=T;CSQ_SYMBOL=ATRX;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=34/34;CSQ_INTRON=.;CSQ_Feature=NM_138270.5;CSQ_HGVSc=NM_138270.5:c.7206G>A;CSQ_HGVSp=NP_612114.2:p.Lys2402%3D;CSQ_HGVSg=X:g.76763988C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=1136090;CSQ_ClinVar_CLNSIG=Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Alpha_thalassemia-X-linked_intellectual_disability_syndrome;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=21392;CSQ_gnomADg_AF=4.67464e-05;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-40;CSQ_SpliceAI_pred_DP_AL=-1;CSQ_SpliceAI_pred_DP_DG=20;CSQ_SpliceAI_pred_DP_DL=6;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=9.686 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:79,19:98:0.19388:65:-100:0.125:1,8,4,3,1,2,13,29,9,28,6,13:100:100 +X 76937963 . G C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=ATRX;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/35;CSQ_INTRON=.;CSQ_Feature=NM_000489.6;CSQ_HGVSc=NM_000489.6:c.2785C>G;CSQ_HGVSp=NP_000480.3:p.Gln929Glu;CSQ_HGVSg=X:g.76937963G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=93135;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Alpha_thalassemia-X-linked_intellectual_disability_syndrome&Intellectual_disability-hypotonic_facies_syndrome&_X-linked&_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=10103;CSQ_gnomADg_AN=21204;CSQ_gnomADg_AF=0.476467;CSQ_gnomADe_AC=66364;CSQ_gnomADe_AN=177789;CSQ_gnomADe_AF=0.373274;CSQ_gnomADe_Hom=9326;CSQ_COSMICcMuts=COSV64876139&COSV64876139;CSQ_COSMICncMuts=COSV64876139;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.199;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.988 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,26:83:0.31325:65:-100:0.0778:3,8,2,7,2,4,14,24,12,13,3,17:100:100 +X 76937963 . G C 100 PASS DP=83;CSQ_Allele=C;CSQ_SYMBOL=ATRX;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/34;CSQ_INTRON=.;CSQ_Feature=NM_138270.5;CSQ_HGVSc=NM_138270.5:c.2671C>G;CSQ_HGVSp=NP_612114.2:p.Gln891Glu;CSQ_HGVSg=X:g.76937963G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=93135;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Alpha_thalassemia-X-linked_intellectual_disability_syndrome&Intellectual_disability-hypotonic_facies_syndrome&_X-linked&_1&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=10103;CSQ_gnomADg_AN=21204;CSQ_gnomADg_AF=0.476467;CSQ_gnomADe_AC=66364;CSQ_gnomADe_AN=177789;CSQ_gnomADe_AF=0.373274;CSQ_gnomADe_Hom=9326;CSQ_COSMICcMuts=COSV64876139&COSV64876139;CSQ_COSMICncMuts=COSV64876139;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=1;CSQ_SpliceAI_pred_DP_AL=-22;CSQ_SpliceAI_pred_DP_DG=46;CSQ_SpliceAI_pred_DP_DL=8;CSQ_REVEL=0.199;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=3.988 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:57,26:83:0.31325:65:-100:0.0778:3,8,2,7,2,4,14,24,12,13,3,17:100:100 +X 76938088 . GTC G 100 PASS DP=90;CSQ_Allele=-;CSQ_SYMBOL=ATRX;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=9/35;CSQ_INTRON=.;CSQ_Feature=NM_000489.6;CSQ_HGVSc=NM_000489.6:c.2658_2659del;CSQ_HGVSp=NP_000480.3:p.Glu886AspfsTer10;CSQ_HGVSg=X:g.76938098_76938099del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64885043&COSV64885043;CSQ_COSMICncMuts=COSV64885043;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,5:90:0.05556:65:-99.7552:0:2,2,0,0,1,0,14,29,9,15,10,14:64.353:100 +X 76938088 . GTC G 100 PASS DP=90;CSQ_Allele=-;CSQ_SYMBOL=ATRX;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=8/34;CSQ_INTRON=.;CSQ_Feature=NM_138270.5;CSQ_HGVSc=NM_138270.5:c.2544_2545del;CSQ_HGVSp=NP_612114.2:p.Glu848AspfsTer10;CSQ_HGVSg=X:g.76938098_76938099del;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV64885043&COSV64885043;CSQ_COSMICncMuts=COSV64885043;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=16;CSQ_SpliceAI_pred_DP_AL=-13;CSQ_SpliceAI_pred_DP_DG=-16;CSQ_SpliceAI_pred_DP_DL=-18;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=. GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,5:90:0.05556:65:-99.7552:0:2,2,0,0,1,0,14,29,9,15,10,14:64.353:100 +X 76938153 . G C 100 PASS DP=85;CSQ_Allele=C;CSQ_SYMBOL=ATRX;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/35;CSQ_INTRON=.;CSQ_Feature=NM_000489.6;CSQ_HGVSc=NM_000489.6:c.2595C>G;CSQ_HGVSp=NP_000480.3:p.His865Gln;CSQ_HGVSg=X:g.76938153G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=93134;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Alpha_thalassemia-X-linked_intellectual_disability_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=200;CSQ_gnomADg_AN=21352;CSQ_gnomADg_AF=0.0093668;CSQ_gnomADe_AC=1419;CSQ_gnomADe_AN=176298;CSQ_gnomADe_AF=0.00804887;CSQ_gnomADe_Hom=5;CSQ_COSMICcMuts=COSV64876586&COSV64876586;CSQ_COSMICncMuts=COSV64876586;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=0.152;CSQ_Mastermind_MMID3=ATRX:H827Q&ATRX:H865Q;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,8:85:0.09412:65:-100:0.0761:0,5,1,0,1,1,20,27,10,15,5,8:100:100 +X 76938153 . G C 100 PASS DP=85;CSQ_Allele=C;CSQ_SYMBOL=ATRX;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/34;CSQ_INTRON=.;CSQ_Feature=NM_138270.5;CSQ_HGVSc=NM_138270.5:c.2481C>G;CSQ_HGVSp=NP_612114.2:p.His827Gln;CSQ_HGVSg=X:g.76938153G>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=93134;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Alpha_thalassemia-X-linked_intellectual_disability_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=200;CSQ_gnomADg_AN=21352;CSQ_gnomADg_AF=0.0093668;CSQ_gnomADe_AC=1419;CSQ_gnomADe_AN=176298;CSQ_gnomADe_AF=0.00804887;CSQ_gnomADe_Hom=5;CSQ_COSMICcMuts=COSV64876586&COSV64876586;CSQ_COSMICncMuts=COSV64876586;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-1;CSQ_SpliceAI_pred_DP_AL=40;CSQ_SpliceAI_pred_DP_DG=6;CSQ_SpliceAI_pred_DP_DL=20;CSQ_REVEL=0.152;CSQ_Mastermind_MMID3=ATRX:H827Q&ATRX:H865Q;CSQ_CADD_PHRED=0.004 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,8:85:0.09412:65:-100:0.0761:0,5,1,0,1,1,20,27,10,15,5,8:100:100 +X 76938208 . A G 100 PASS DP=91;CSQ_Allele=G;CSQ_SYMBOL=ATRX;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=9/35;CSQ_INTRON=.;CSQ_Feature=NM_000489.6;CSQ_HGVSc=NM_000489.6:c.2540T>C;CSQ_HGVSp=NP_000480.3:p.Phe847Ser;CSQ_HGVSg=X:g.76938208A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=133660;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Alpha_thalassemia-X-linked_intellectual_disability_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=31;CSQ_gnomADg_AN=21380;CSQ_gnomADg_AF=0.00144995;CSQ_gnomADe_AC=503;CSQ_gnomADe_AN=176802;CSQ_gnomADe_AF=0.00284499;CSQ_gnomADe_Hom=7;CSQ_COSMICcMuts=COSV64887080&COSV64887080;CSQ_COSMICncMuts=COSV64887080;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=0.117;CSQ_Mastermind_MMID3=ATRX:F809S&ATRX:F847S;CSQ_CADD_PHRED=3.497 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,6:91:0.06593:65:-100:0.125:1,3,0,1,1,0,20,35,5,15,8,8:90.424:100 +X 76938208 . A G 100 PASS DP=91;CSQ_Allele=G;CSQ_SYMBOL=ATRX;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=8/34;CSQ_INTRON=.;CSQ_Feature=NM_138270.5;CSQ_HGVSc=NM_138270.5:c.2426T>C;CSQ_HGVSp=NP_612114.2:p.Phe809Ser;CSQ_HGVSg=X:g.76938208A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=133660;CSQ_ClinVar_CLNSIG=Benign/Likely_benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=Alpha_thalassemia-X-linked_intellectual_disability_syndrome&Inborn_genetic_diseases¬_specified¬_provided;CSQ_gnomADg_AC=31;CSQ_gnomADg_AN=21380;CSQ_gnomADg_AF=0.00144995;CSQ_gnomADe_AC=503;CSQ_gnomADe_AN=176802;CSQ_gnomADe_AF=0.00284499;CSQ_gnomADe_Hom=7;CSQ_COSMICcMuts=COSV64887080&COSV64887080;CSQ_COSMICncMuts=COSV64887080;CSQ_CGC=TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-36;CSQ_SpliceAI_pred_DP_AL=-15;CSQ_SpliceAI_pred_DP_DG=3;CSQ_SpliceAI_pred_DP_DL=46;CSQ_REVEL=0.117;CSQ_Mastermind_MMID3=ATRX:F809S&ATRX:F847S;CSQ_CADD_PHRED=3.497 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:85,6:91:0.06593:65:-100:0.125:1,3,0,1,1,0,20,35,5,15,8,8:90.424:100 +X 100608191 . G A 100 PASS DP=72;CSQ_Allele=A;CSQ_SYMBOL=BTK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/19;CSQ_INTRON=.;CSQ_Feature=NM_000061.3;CSQ_HGVSc=NM_000061.3:c.1899C>T;CSQ_HGVSp=NP_000052.1:p.Cys633%3D;CSQ_HGVSg=X:g.100608191G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=254784;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=X-linked_agammaglobulinemia&X-linked_agammaglobulinemia_with_growth_hormone_deficiency¬_specified;CSQ_gnomADg_AC=7777;CSQ_gnomADg_AN=21211;CSQ_gnomADg_AF=0.366649;CSQ_gnomADe_AC=55339;CSQ_gnomADe_AN=177692;CSQ_gnomADe_AF=0.311432;CSQ_gnomADe_Hom=8612;CSQ_COSMICcMuts=COSV58117908&COSV58117908;CSQ_COSMICncMuts=COSV58117908&COSV58117908&COSV58117908&COSV58117908&COSV58117908;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.22;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BTK:C457C&BTK:C633C&BTK:C667C;CSQ_CADD_PHRED=12.48 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,13:72:0.18056:65:-100:0.1529:2,3,0,3,1,4,14,26,5,13,3,11:100:100 +X 100608191 . G A 100 PASS DP=72;CSQ_Allele=A;CSQ_SYMBOL=BTK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=18/19;CSQ_INTRON=.;CSQ_Feature=NM_001287344.2;CSQ_HGVSc=NM_001287344.2:c.2001C>T;CSQ_HGVSp=NP_001274273.1:p.Cys667%3D;CSQ_HGVSg=X:g.100608191G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=254784;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=X-linked_agammaglobulinemia&X-linked_agammaglobulinemia_with_growth_hormone_deficiency¬_specified;CSQ_gnomADg_AC=7777;CSQ_gnomADg_AN=21211;CSQ_gnomADg_AF=0.366649;CSQ_gnomADe_AC=55339;CSQ_gnomADe_AN=177692;CSQ_gnomADe_AF=0.311432;CSQ_gnomADe_Hom=8612;CSQ_COSMICcMuts=COSV58117908&COSV58117908;CSQ_COSMICncMuts=COSV58117908&COSV58117908&COSV58117908&COSV58117908&COSV58117908;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.22;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BTK:C457C&BTK:C633C&BTK:C667C;CSQ_CADD_PHRED=12.48 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,13:72:0.18056:65:-100:0.1529:2,3,0,3,1,4,14,26,5,13,3,11:100:100 +X 100608191 . G A 100 PASS DP=72;CSQ_Allele=A;CSQ_SYMBOL=BTK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=16/17;CSQ_INTRON=.;CSQ_Feature=NM_001287345.2;CSQ_HGVSc=NM_001287345.2:c.1371C>T;CSQ_HGVSp=NP_001274274.1:p.Cys457%3D;CSQ_HGVSg=X:g.100608191G>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=254784;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=X-linked_agammaglobulinemia&X-linked_agammaglobulinemia_with_growth_hormone_deficiency¬_specified;CSQ_gnomADg_AC=7777;CSQ_gnomADg_AN=21211;CSQ_gnomADg_AF=0.366649;CSQ_gnomADe_AC=55339;CSQ_gnomADe_AN=177692;CSQ_gnomADe_AF=0.311432;CSQ_gnomADe_Hom=8612;CSQ_COSMICcMuts=COSV58117908&COSV58117908;CSQ_COSMICncMuts=COSV58117908&COSV58117908&COSV58117908&COSV58117908&COSV58117908;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.22;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=28;CSQ_SpliceAI_pred_DP_AL=45;CSQ_SpliceAI_pred_DP_DG=24;CSQ_SpliceAI_pred_DP_DL=-9;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BTK:C457C&BTK:C633C&BTK:C667C;CSQ_CADD_PHRED=12.48 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:59,13:72:0.18056:65:-100:0.1529:2,3,0,3,1,4,14,26,5,13,3,11:100:100 +X 100629527 . A G 100 PASS DP=90;CSQ_Allele=G;CSQ_SYMBOL=BTK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/19;CSQ_INTRON=.;CSQ_Feature=NM_000061.3;CSQ_HGVSc=NM_000061.3:c.237T>C;CSQ_HGVSp=NP_000052.1:p.Ile79%3D;CSQ_HGVSg=X:g.100629527A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58124252&COSV58124252;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,6:90:0.06667:65:-99.5684:0.1429:2,2,0,0,0,2,16,31,2,13,8,20:63.859:100 +X 100629527 . A G 100 PASS DP=90;CSQ_Allele=G;CSQ_SYMBOL=BTK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=3/19;CSQ_INTRON=.;CSQ_Feature=NM_001287344.2;CSQ_HGVSc=NM_001287344.2:c.339T>C;CSQ_HGVSp=NP_001274273.1:p.Ile113%3D;CSQ_HGVSg=X:g.100629527A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58124252&COSV58124252;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,6:90:0.06667:65:-99.5684:0.1429:2,2,0,0,0,2,16,31,2,13,8,20:63.859:100 +X 100629527 . A G 100 PASS DP=90;CSQ_Allele=G;CSQ_SYMBOL=BTK;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/17;CSQ_INTRON=.;CSQ_Feature=NM_001287345.2;CSQ_HGVSc=NM_001287345.2:c.237T>C;CSQ_HGVSp=NP_001274274.1:p.Ile79%3D;CSQ_HGVSg=X:g.100629527A>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV58124252&COSV58124252;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.01;CSQ_SpliceAI_pred_DP_AG=10;CSQ_SpliceAI_pred_DP_AL=2;CSQ_SpliceAI_pred_DP_DG=0;CSQ_SpliceAI_pred_DP_DL=-3;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=13.52 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:84,6:90:0.06667:65:-99.5684:0.1429:2,2,0,0,0,2,16,31,2,13,8,20:63.859:100 +X 100645467 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=BTK;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_000061.3;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=X:g.100645467T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402436;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=6791;CSQ_gnomADg_AN=21563;CSQ_gnomADg_AF=0.314938;CSQ_gnomADe_AC=23606;CSQ_gnomADe_AN=93742;CSQ_gnomADe_AF=0.251819;CSQ_gnomADe_Hom=2730;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,19:108:0.17593:65:-100:0.1429:1,5,3,5,1,4,16,30,10,20,8,24:100:100 +X 100645467 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=BTK;CSQ_Consequence=missense_variant&splice_region_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=1/19;CSQ_INTRON=.;CSQ_Feature=NM_001287344.2;CSQ_HGVSc=NM_001287344.2:c.71A>G;CSQ_HGVSp=NP_001274273.1:p.Glu24Gly;CSQ_HGVSg=X:g.100645467T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402436;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=6791;CSQ_gnomADg_AN=21563;CSQ_gnomADg_AF=0.314938;CSQ_gnomADe_AC=23606;CSQ_gnomADe_AN=93742;CSQ_gnomADe_AF=0.251819;CSQ_gnomADe_Hom=2730;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BTK:E24G&BTK:E24srd;CSQ_CADD_PHRED=5.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,19:108:0.17593:65:-100:0.1429:1,5,3,5,1,4,16,30,10,20,8,24:100:100 +X 100645467 . T C 100 PASS DP=108;CSQ_Allele=C;CSQ_SYMBOL=BTK;CSQ_Consequence=upstream_gene_variant;CSQ_IMPACT=MODIFIER;CSQ_EXON=.;CSQ_INTRON=.;CSQ_Feature=NM_001287345.2;CSQ_HGVSc=.;CSQ_HGVSp=.;CSQ_HGVSg=X:g.100645467T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=-1;CSQ_ClinVar=402436;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_specified;CSQ_gnomADg_AC=6791;CSQ_gnomADg_AN=21563;CSQ_gnomADg_AF=0.314938;CSQ_gnomADe_AC=23606;CSQ_gnomADe_AN=93742;CSQ_gnomADe_AF=0.251819;CSQ_gnomADe_Hom=2730;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598&COSV58121598;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=.;CSQ_SpliceAI_pred_DS_AL=.;CSQ_SpliceAI_pred_DS_DG=.;CSQ_SpliceAI_pred_DS_DL=.;CSQ_SpliceAI_pred_DP_AG=.;CSQ_SpliceAI_pred_DP_AL=.;CSQ_SpliceAI_pred_DP_DG=.;CSQ_SpliceAI_pred_DP_DL=.;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=5.311 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,19:108:0.17593:65:-100:0.1429:1,5,3,5,1,4,16,30,10,20,8,24:100:100 +X 110406247 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=PAK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=6/15;CSQ_INTRON=.;CSQ_Feature=NM_001128167.3;CSQ_HGVSc=NM_001128167.3:c.573C>T;CSQ_HGVSp=NP_001121639.1:p.Ile191%3D;CSQ_HGVSg=X:g.110406247C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=176461;CSQ_gnomADe_AF=5.66697e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,10:96:0.10417:65:-100:0.1652:1,3,1,1,2,2,21,27,9,18,9,12:100:100 +X 110406247 . C T 100 PASS DP=96;CSQ_Allele=T;CSQ_SYMBOL=PAK3;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=11/20;CSQ_INTRON=.;CSQ_Feature=NM_001128168.3;CSQ_HGVSc=NM_001128168.3:c.681C>T;CSQ_HGVSp=NP_001121640.1:p.Ile227%3D;CSQ_HGVSg=X:g.110406247C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=176461;CSQ_gnomADe_AF=5.66697e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740&COSV53272740;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-6;CSQ_SpliceAI_pred_DP_AL=-4;CSQ_SpliceAI_pred_DP_DG=27;CSQ_SpliceAI_pred_DP_DL=31;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=10.65 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:86,10:96:0.10417:65:-100:0.1652:1,3,1,1,2,2,21,27,9,18,9,12:100:100 +X 123022570 . T A 100 PASS DP=85;CSQ_Allele=A;CSQ_SYMBOL=XIAP;CSQ_Consequence=splice_donor_variant;CSQ_IMPACT=HIGH;CSQ_EXON=.;CSQ_INTRON=3/6;CSQ_Feature=NM_001167.4;CSQ_HGVSc=NM_001167.4:c.977+2T>A;CSQ_HGVSp=.;CSQ_HGVSg=X:g.123022570T>A;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.77;CSQ_SpliceAI_pred_DS_DL=1.00;CSQ_SpliceAI_pred_DP_AG=26;CSQ_SpliceAI_pred_DP_AL=-35;CSQ_SpliceAI_pred_DP_DG=-11;CSQ_SpliceAI_pred_DP_DL=-2;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=33 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:77,8:85:0.09412:65:-100:0.1327:1,4,0,2,0,1,20,36,8,11,2,8:100:100 +X 123025154 . TGAG T 100 PASS DP=93;CSQ_Allele=-;CSQ_SYMBOL=XIAP;CSQ_Consequence=inframe_deletion;CSQ_IMPACT=MODERATE;CSQ_EXON=4/7;CSQ_INTRON=.;CSQ_Feature=NM_001167.4;CSQ_HGVSc=NM_001167.4:c.1048_1050del;CSQ_HGVSp=NP_001158.2:p.Glu350del;CSQ_HGVSg=X:g.123025158_123025160del;CSQ_HGVS_OFFSET=3;CSQ_STRAND=1;CSQ_ClinVar=225518;CSQ_ClinVar_CLNSIG=Conflicting_interpretations_of_pathogenicity;CSQ_ClinVar_CLNSIGCONF=Uncertain_significance(1)&Benign(1);CSQ_ClinVar_CLNDN=X-linked_lymphoproliferative_disease_due_to_XIAP_deficiency;CSQ_gnomADg_AC=1;CSQ_gnomADg_AN=21589;CSQ_gnomADg_AF=4.63199e-05;CSQ_gnomADe_AC=43;CSQ_gnomADe_AN=164043;CSQ_gnomADe_AF=0.000262126;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=3;CSQ_SpliceAI_pred_DP_DG=-3;CSQ_SpliceAI_pred_DP_DL=15;CSQ_REVEL=.;CSQ_Mastermind_MMID3=XIAP:E350del;CSQ_CADD_PHRED=18.61 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:78,15:93:0.16129:65:-100:0:0,7,1,3,1,3,14,31,6,18,10,14:100:100 +X 123034511 . A C 100 PASS DP=118;CSQ_Allele=C;CSQ_SYMBOL=XIAP;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=6/7;CSQ_INTRON=.;CSQ_Feature=NM_001167.4;CSQ_HGVSc=NM_001167.4:c.1268A>C;CSQ_HGVSp=NP_001158.2:p.Gln423Pro;CSQ_HGVSg=X:g.123034511A>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=257589;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=X-linked_lymphoproliferative_disease_due_to_XIAP_deficiency&Autoinflammatory_syndrome¬_specified¬_provided;CSQ_gnomADg_AC=8249;CSQ_gnomADg_AN=21316;CSQ_gnomADg_AF=0.386986;CSQ_gnomADe_AC=59234;CSQ_gnomADe_AN=178442;CSQ_gnomADe_AF=0.331951;CSQ_gnomADe_Hom=6891;CSQ_COSMICcMuts=COSV63022231&COSV63022231&COSV63022231;CSQ_COSMICncMuts=COSV63022231;CSQ_CGC=.;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-43;CSQ_SpliceAI_pred_DP_AL=-30;CSQ_SpliceAI_pred_DP_DG=-44;CSQ_SpliceAI_pred_DP_DL=32;CSQ_REVEL=0.081;CSQ_Mastermind_MMID3=XIAP:Q423P;CSQ_CADD_PHRED=14.32 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:89,29:118:0.24576:65:-100:0.0992:2,12,2,7,2,4,20,43,11,23,8,13:100:100 +X 129146962 . C CG 100 PASS DP=100;CSQ_Allele=G;CSQ_SYMBOL=BCORL1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=4/13;CSQ_INTRON=.;CSQ_Feature=NM_021946.5;CSQ_HGVSc=NM_021946.5:c.220dup;CSQ_HGVSp=NP_068765.3:p.Ala74GlyfsTer20;CSQ_HGVSg=X:g.129146968dup;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=1;CSQ_gnomADe_AN=168808;CSQ_gnomADe_AF=5.92389e-06;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54390553&COSV54390553&COSV54390553&COSV54390553;CSQ_COSMICncMuts=COSV54390553&COSV54390553;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-31;CSQ_SpliceAI_pred_DP_AL=-37;CSQ_SpliceAI_pred_DP_DG=-38;CSQ_SpliceAI_pred_DP_DL=45;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCORL1:A74fs;CSQ_CADD_PHRED=29.9 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:88,12:100:0.12:65:-100:0:2,2,0,6,0,2,20,32,6,21,9,11:100:100 +X 129147079 . T C 100 PASS DP=125;CSQ_Allele=C;CSQ_SYMBOL=BCORL1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/13;CSQ_INTRON=.;CSQ_Feature=NM_021946.5;CSQ_HGVSc=NM_021946.5:c.331T>C;CSQ_HGVSp=NP_068765.3:p.Phe111Leu;CSQ_HGVSg=X:g.129147079T>C;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=21515;CSQ_gnomADg_AN=21515;CSQ_gnomADg_AF=1;CSQ_gnomADe_AC=177830;CSQ_gnomADe_AN=177833;CSQ_gnomADe_AF=0.999983;CSQ_gnomADe_Hom=55529;CSQ_COSMICcMuts=COSV54389093&COSV54389093&COSV54389093&COSV54389093;CSQ_COSMICncMuts=COSV54389093&COSV54389093;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=5;CSQ_SpliceAI_pred_DP_AL=20;CSQ_SpliceAI_pred_DP_DG=-10;CSQ_SpliceAI_pred_DP_DL=5;CSQ_REVEL=0.014;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=18.90 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 1/1:0:0,125:125:1:65:-100:0.1379:21,44,11,22,12,15,21,44,11,22,12,15:100:100 +X 129150094 . C T 100 PASS DP=111;CSQ_Allele=T;CSQ_SYMBOL=BCORL1;CSQ_Consequence=missense_variant;CSQ_IMPACT=MODERATE;CSQ_EXON=4/13;CSQ_INTRON=.;CSQ_Feature=NM_021946.5;CSQ_HGVSc=NM_021946.5:c.3346C>T;CSQ_HGVSp=NP_068765.3:p.Pro1116Ser;CSQ_HGVSg=X:g.129150094C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=2;CSQ_gnomADe_AN=178473;CSQ_gnomADe_AF=1.12062e-05;CSQ_gnomADe_Hom=0;CSQ_COSMICcMuts=COSV54397393&COSV54397393&COSV54397393&COSV54397393;CSQ_COSMICncMuts=COSV54397393;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=6;CSQ_SpliceAI_pred_DP_AL=-39;CSQ_SpliceAI_pred_DP_DG=13;CSQ_SpliceAI_pred_DP_DL=0;CSQ_REVEL=0.029;CSQ_Mastermind_MMID3=BCORL1:P1116S;CSQ_CADD_PHRED=12.56 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,10:111:0.09009:65:-100:0.1328:2,4,0,2,1,1,21,37,9,19,11,14:100:100 +X 129150144 . C G 100 PASS DP=120;CSQ_Allele=G;CSQ_SYMBOL=BCORL1;CSQ_Consequence=synonymous_variant;CSQ_IMPACT=LOW;CSQ_EXON=4/13;CSQ_INTRON=.;CSQ_Feature=NM_021946.5;CSQ_HGVSc=NM_021946.5:c.3396C>G;CSQ_HGVSp=NP_068765.3:p.Leu1132%3D;CSQ_HGVSg=X:g.129150144C>G;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=1286982;CSQ_ClinVar_CLNSIG=Benign;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=not_provided;CSQ_gnomADg_AC=1981;CSQ_gnomADg_AN=21509;CSQ_gnomADg_AF=0.092101;CSQ_gnomADe_AC=4217;CSQ_gnomADe_AN=170769;CSQ_gnomADe_AF=0.0246942;CSQ_gnomADe_Hom=461;CSQ_COSMICcMuts=COSV54392050&COSV54392050&COSV54392050&COSV54392050;CSQ_COSMICncMuts=COSV54392050;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-44;CSQ_SpliceAI_pred_DP_AL=39;CSQ_SpliceAI_pred_DP_DG=45;CSQ_SpliceAI_pred_DP_DL=49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=BCORL1:L1132L;CSQ_CADD_PHRED=0.427 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:102,18:120:0.15:65:-100:0.1429:2,3,4,2,4,3,18,43,11,19,10,19:100:100 +X 129185891 . C T 100 PASS DP=101;CSQ_Allele=T;CSQ_SYMBOL=BCORL1;CSQ_Consequence=stop_gained;CSQ_IMPACT=HIGH;CSQ_EXON=12/13;CSQ_INTRON=.;CSQ_Feature=NM_021946.5;CSQ_HGVSc=NM_021946.5:c.4753C>T;CSQ_HGVSp=NP_068765.3:p.Gln1585Ter;CSQ_HGVSg=X:g.129185891C>T;CSQ_HGVS_OFFSET=.;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=.;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=-47;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=-2;CSQ_SpliceAI_pred_DP_DL=37;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=40 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:93,8:101:0.07921:65:-100:0.1441:1,5,0,0,0,2,19,39,8,16,7,12:100:100 +X 129190010 . TC T 100 PASS DP=131;CSQ_Allele=-;CSQ_SYMBOL=BCORL1;CSQ_Consequence=frameshift_variant;CSQ_IMPACT=HIGH;CSQ_EXON=13/13;CSQ_INTRON=.;CSQ_Feature=NM_021946.5;CSQ_HGVSc=NM_021946.5:c.5042del;CSQ_HGVSp=NP_068765.3:p.Pro1681GlnfsTer20;CSQ_HGVSg=X:g.129190017del;CSQ_HGVS_OFFSET=6;CSQ_STRAND=1;CSQ_ClinVar=.;CSQ_ClinVar_CLNSIG=.;CSQ_ClinVar_CLNSIGCONF=.;CSQ_ClinVar_CLNDN=.;CSQ_gnomADg_AC=.;CSQ_gnomADg_AN=.;CSQ_gnomADg_AF=.;CSQ_gnomADe_AC=.;CSQ_gnomADe_AN=.;CSQ_gnomADe_AF=.;CSQ_gnomADe_Hom=.;CSQ_COSMICcMuts=COSV54389050&COSV54389050&COSV54389050&COSV54389050;CSQ_COSMICncMuts=.;CSQ_CGC=oncogene&TSG;CSQ_Hotspots=.;CSQ_SpliceAI_pred_DS_AG=0.00;CSQ_SpliceAI_pred_DS_AL=0.00;CSQ_SpliceAI_pred_DS_DG=0.00;CSQ_SpliceAI_pred_DS_DL=0.00;CSQ_SpliceAI_pred_DP_AG=31;CSQ_SpliceAI_pred_DP_AL=-2;CSQ_SpliceAI_pred_DP_DG=36;CSQ_SpliceAI_pred_DP_DL=-49;CSQ_REVEL=.;CSQ_Mastermind_MMID3=.;CSQ_CADD_PHRED=27.8 GT:GQ:AD:DP:VF:NL:SB:NC:US:AQ:LQ 0/1:100:101,30:131:0.22901:65:-100:0:7,12,0,9,1,1,21,47,9,23,10,21:100:100 diff --git a/resources/home/dnanexus/generate_workbook/tests/test_data/unannotated.vcf.gz b/resources/home/dnanexus/generate_workbook/tests/test_data/unannotated.vcf.gz new file mode 100644 index 00000000..54241f66 Binary files /dev/null and b/resources/home/dnanexus/generate_workbook/tests/test_data/unannotated.vcf.gz differ diff --git a/resources/home/dnanexus/generate_workbook/tests/test_filters.py b/resources/home/dnanexus/generate_workbook/tests/test_filters.py index 3f82ee46..1670048c 100644 --- a/resources/home/dnanexus/generate_workbook/tests/test_filters.py +++ b/resources/home/dnanexus/generate_workbook/tests/test_filters.py @@ -1,4 +1,5 @@ import argparse +from copy import deepcopy import os from pathlib import Path import shutil @@ -21,6 +22,29 @@ # annotation for each TEST_VCF = "NA12878_unittest.vcf" +# namespace with all args coming in from parse_args, will be adjusted +# as required in each test +VCF_ARGS = argparse.Namespace( + additional_files=False, + filter=False, + print_columns=False, + print_header=False, + rename=False, + vcfs=[], + types=None, + merge=False, + include=False, + exclude=False, + reorder=False, + decipher=False, + split_hgvs=False, + add_name=False, + add_raw_change=False, + add_comment_column=False, + add_classification_column=None, + additional_columns=[] +) + class TestModifyingFieldTypes(): """ @@ -36,16 +60,10 @@ class TestModifyingFieldTypes(): # initialise vcf class with a valid argparse input to allow # calling .read() - vcf_handler = vcf(argparse.Namespace( - add_name=True, analysis='', - filter=None, keep=False, merge=False, - reorder=[], exclude=None, include=None, - out_dir='', output='', always_keep=pd.DataFrame(), - panel='', print_columns=False, reads='', rename=None, - sample='', sheets=['variants'], summary=None, usable_reads='', - vcfs=[columns_vcf], workflow=('', ''), - types={'gnomADg_AF': 'Float'} - )) + vcf_handler = vcf(deepcopy(VCF_ARGS)) + vcf_handler.args.types = {'gnomADg_AF': 'Float'} + vcf_handler.args.sheets = ['variants'] + vcf_handler.args.vcf = [columns_vcf] # get header from vcf file_header, _ = vcf_handler.parse_header(columns_vcf) @@ -127,15 +145,9 @@ class TestFilters(): # initialise vcf class with a valid argparse input to allow # calling .read() - vcf_handler = vcf(argparse.Namespace( - add_name=False, analysis='', - filter=None, keep=False, merge=False, - reorder=[], exclude=None, include=None, - out_dir='', output='', always_keep=pd.DataFrame(), - panel='', print_columns=False, print_header=False, reads='', - rename=None, sample='', sheets=['variants'], summary=None, - usable_reads='', vcfs=[test_vcf], workflow=('', ''), types=None - )) + vcf_handler = vcf(deepcopy(VCF_ARGS)) + vcf_handler.args.sheets = ['variants'] + vcf_handler.args.vcf = [test_vcf] def filter(self, filter_str) -> Union[pd.DataFrame, pd.DataFrame]: diff --git a/resources/home/dnanexus/generate_workbook/tests/test_vcf.py b/resources/home/dnanexus/generate_workbook/tests/test_vcf.py index 4646a0f3..8216b8a1 100644 --- a/resources/home/dnanexus/generate_workbook/tests/test_vcf.py +++ b/resources/home/dnanexus/generate_workbook/tests/test_vcf.py @@ -1,11 +1,11 @@ import argparse +from copy import deepcopy from multiprocessing.dummy import Namespace import os from pathlib import Path import sys +import unittest import pandas as pd -from types import new_class -from bleach import clean import pytest @@ -20,6 +20,25 @@ # initialise vcf class that contains functions for parsing header vcf_handler = vcf(argparse.Namespace) +# namespace with all args coming in from parse_args, will be adjusted +# as required in each test +VCF_ARGS = argparse.Namespace( + additional_files=False, + filter=False, + print_columns=False, + rename=False, + vcfs=[], + merge=False, + include=False, + exclude=False, + reorder=False, + decipher=False, + split_hgvs=False, + add_raw_change=False, + add_classification_column=None, + additional_columns=[], + summary=None +) class TestHeader(): """ @@ -84,6 +103,76 @@ def test_only_header_parsed(self): assert all([x.startswith('#') for x in self.header]) +class TestVcfCheckVepVcf(unittest.TestCase): + """ + Tests for vcf.check_vep_vcf() + + Function checks if a given VCF has been annotated with VEP or + already split with bcftools +split-vep before trying to split + again + """ + def tearDown(self): + if os.path.exists('/tmp/test.vcf'): + os.remove('/tmp/test.vcf') + + + def test_annotated_and_not_split(self): + """ + Test when VCF is annotated and hasn't been split that the + function returns True as expected + """ + # vep annotated and unsplit vcf + vep_vcf = os.path.join(TEST_DATA_DIR, 'NA12878_unittest.vcf') + + assert vcf(deepcopy(VCF_ARGS)).check_vep_vcf(vep_vcf, '/tmp/test.vcf') + + + def test_vcf_already_split(self): + """ + Test when a vcf has already been split that the function returns + False as expected + """ + # previously split test vcf + vep_vcf = os.path.join(TEST_DATA_DIR, 'NA12878_unittest.split.vcf') + + assert not vcf(deepcopy(VCF_ARGS)).check_vep_vcf( + vep_vcf, '/tmp/test.vcf') + + + def test_vcf_not_annotated_with_vep(self): + """ + Test that a VCF not annotated with VEP returns False as expected + """ + # unannotated test vcf + not_vep_vcf = os.path.join(TEST_DATA_DIR, 'unannotated.vcf.gz') + + assert not vcf(deepcopy(VCF_ARGS)).check_vep_vcf( + not_vep_vcf, '/tmp/test.vcf') + + + def test_tmp_vcf_made(self): + """ + Test when check_vep_vcf() is called and the VCF either is not + annotated with VEP or already split with bcftools +split-vep + that a temporary vcf is created with the given name that is + identical to the input vcf + """ + # previously split test vcf + vep_vcf = os.path.join(TEST_DATA_DIR, 'NA12878_unittest.split.vcf') + + vcf(deepcopy(VCF_ARGS)).check_vep_vcf(vep_vcf, '/tmp/test.vcf') + + with open(vep_vcf) as fh: + input_vcf = fh.read() + + with open('/tmp/test.vcf') as fh: + created_vcf = fh.read() + + assert input_vcf == created_vcf, ( + 'temporary created vcf not the same as input vcf' + ) + + class TestDataFrameActions(): """ Tests for functions that modify dataframes of variants (i.e. reorder(), @@ -116,7 +205,8 @@ class instance of vcf from utils out_dir='', output='', panel='', print_columns=False, print_header=False, reads='', rename=None, sample='', sheets=['variants'], summary=None, - vcfs=[self.columns_vcf], workflow=('', '') + vcfs=[self.columns_vcf], workflow=('', ''), split_hgvs=None, + add_classification_column=None, additional_columns=[] )) # first split multiple transcript annotation to separate VCF @@ -311,17 +401,19 @@ def test_column_creation(): {'CHROM': 10, 'POS': 27035066, 'REF': 'C', 'ALT': 'T'}, ]) - to_add_column = vcf(argparse.Namespace()) + + to_add_column = vcf(deepcopy(VCF_ARGS)) + to_add_column.args.additional_columns = ['decipher'] to_add_column.vcfs = [df] to_add_column.refs = ['38'] # Set reference = build 38 # Call add_decipher_column which should add an empty column titled # 'DECIPHER' to this dataframe - vcf.add_decipher_column(to_add_column) + to_add_column.add_additional_columns() # Assert statement to check that DECIPHER column exists - assert "DECIPHER" in to_add_column.vcfs[0].columns, ( - 'DECIPHER column not created by make_decipher_columns() function' + assert "DECIPHER" in [x.upper() for x in to_add_column.vcfs[0].columns], ( + 'DECIPHER column not created' ) @staticmethod @@ -330,7 +422,7 @@ def test_decipher_column_added(): Test to ensure that the DECIPHER column is created when --decipher input is specified. """ - # Create test dataframe with no "DECIPHER" columnn + # Create test dataframe with no "DECIPHER" column df = pd.DataFrame([ {'CHROM': 1, 'POS': 64883298, 'REF': 'T', 'ALT': 'C'}, {'CHROM': 10, 'POS': 27035066, 'REF': 'C', 'ALT': 'T'}, @@ -338,11 +430,8 @@ def test_decipher_column_added(): # Include --decipher input, all other inputs are false to avoid giving # this dataframe to other functions except make_decipher_columns - should_have_decipher_column = vcf(argparse.Namespace( - additional_files=False, filter=False, print_columns=False, - rename=False, vcfs=[], merge=False, include=False, exclude=False, - reorder=False, decipher=True, # Set DECIPHER = True - )) + should_have_decipher_column = vcf(deepcopy(VCF_ARGS)) + should_have_decipher_column.args.additional_columns = ['DECIPHER'] should_have_decipher_column.vcfs = [df] should_have_decipher_column.refs = ['38'] # Set build = 38 @@ -367,11 +456,8 @@ def test_decipher_column_not_added(): # Using the same test dataframe but without --decipher input, all other # inputs are false to avoid giving this dataframe to other functions # except make_decipher_columns - should_not_have_decipher_column = vcf(argparse.Namespace( - additional_files=False, filter=False, print_columns=False, - rename=False, vcfs=[], merge=False, include=False, exclude=False, - reorder=False, decipher=False, # Set DECIPHER = False - )) + should_not_have_decipher_column = vcf(deepcopy(VCF_ARGS)) + should_not_have_decipher_column.vcfs = [df] should_not_have_decipher_column.refs = ['38'] # Set build = 38 @@ -396,12 +482,7 @@ def test_decipher_build_37(): 'ALT': 'C'}, ]) - build_37_vcf = vcf(argparse.Namespace( - additional_files=False, filter=False, print_columns=False, - rename=False, vcfs=[], merge=False, include=False, exclude=False, - reorder=False, decipher=True # Set DECIPHER = True - )) - + build_37_vcf = vcf(deepcopy(VCF_ARGS)) build_37_vcf.vcfs = [df] build_37_vcf.refs = ['37'] # Set reference = build 37 @@ -425,12 +506,13 @@ def test_decipher_links_build_38(): # DECIPHER column is empty as that is the input to generate hyperlinks df = pd.DataFrame([ {'CHROM': 1, 'POS': 64883298, 'REF': 'T', - 'ALT': 'C', 'DECIPHER': ''}, + 'ALT': 'C', 'DECIPHER': 'DECIPHER'}, {'CHROM': 10, 'POS': 27035066, 'REF': 'C', - 'ALT': 'T', 'DECIPHER': ''}, + 'ALT': 'T', 'DECIPHER': 'DECIPHER'}, ]) - test_vcf = vcf(argparse.Namespace(decipher=True)) + test_vcf = vcf(deepcopy(VCF_ARGS)) + test_vcf.args.decipher = True test_vcf.vcfs = [df] test_vcf.refs = ['38'] # Set reference = build 38 @@ -442,6 +524,8 @@ def test_decipher_links_build_38(): '4883298-T-C", "1-64883298-T-C")' ) + print(test_vcf.args) + # Assert that output is as expected assert test_vcf.vcfs[0]["DECIPHER"][0] == valid_string, ( "DECIPHER link output incorrect" @@ -458,7 +542,7 @@ def test_gnomad_build_37(): 'ALT': 'T', 'gnomAD': 0.0108147}, ]) - test_vcf = vcf(argparse.Namespace()) + test_vcf = vcf(deepcopy(VCF_ARGS)) test_vcf.vcfs = [df] test_vcf.refs = ['37'] # Set reference = build 37 @@ -486,7 +570,7 @@ def test_gnomad_build_38(): 'ALT': 'C', 'gnomADg AF': 0.0004271}, ]) - test_vcf = vcf(argparse.Namespace()) + test_vcf = vcf(deepcopy(VCF_ARGS)) test_vcf.vcfs = [df] test_vcf.refs = ['38'] # Set reference = build 38 @@ -514,7 +598,7 @@ def test_cosmic_build_37(): 'ALT': 'G', 'COSMICcMuts': 'COSV63186428'}, ]) - test_vcf = vcf(argparse.Namespace()) + test_vcf = vcf(deepcopy(VCF_ARGS)) test_vcf.vcfs = [df] test_vcf.refs = ['37'] # Set reference = build 37 @@ -546,7 +630,8 @@ class TestAddRawChange(): out_dir='', output='', panel='', print_columns=False, print_header=False, reads='', rename=None, sample='', sheets=['variants'], summary=None, - vcfs=[], workflow=('', '') + vcfs=[], workflow=('', ''), split_hgvs=None, + add_classification_column=None, additional_columns=[] )) def test_normal_df(self): @@ -565,7 +650,7 @@ def test_normal_df(self): 'Raw change incorrect' ) - + def test_empty_df(self): """ Test when df is empty that function doesn't break and adds empty column @@ -581,7 +666,7 @@ def test_empty_df(self): ], ( 'Raw change incorrectly added to empty df' ) - + def test_missing_column(self): """ Test when one or more required columns is missing that the option is diff --git a/resources/home/dnanexus/generate_workbook/utils/columns.py b/resources/home/dnanexus/generate_workbook/utils/columns.py index 30058e62..49ad8487 100644 --- a/resources/home/dnanexus/generate_workbook/utils/columns.py +++ b/resources/home/dnanexus/generate_workbook/utils/columns.py @@ -1,11 +1,10 @@ -import sys from typing import Union import pandas as pd class splitColumns(): """ - Functions for spliting and checking of variant annotation and + Functions for splitting and checking of variant annotation and attribute columns (FORMAT, SAMPLE, INFO, CSQ), called during reading of VCFs from file in vcf.read() """ @@ -36,7 +35,10 @@ def split(self, vcf_df) -> Union[pd.DataFrame, int]: def unique_vep(self, vcf_df) -> pd.DataFrame: """ Handle known bug in VEP annotation where it duplicates COSMIC IDs - This creates a + + This creates a dataframe of variants and edits the CSQ column to + remove all duplicated entries and re-joins the new list of unique + entries with '&' as the delimiter. Parameters ---------- @@ -93,7 +95,7 @@ def format_fields(self, vcf_df) -> pd.DataFrame: ------ AssertionError Raised when SAMPLE column contains '##' that is used to split out - data to separte columns on + data to separate columns on Returns ------- @@ -203,6 +205,5 @@ def info(self, vcf_df) -> pd.DataFrame: # drop INFO and CSQ as we fully split them out vcf_df.drop(['INFO'], axis=1, inplace=True) - return vcf_df diff --git a/resources/home/dnanexus/generate_workbook/utils/excel.py b/resources/home/dnanexus/generate_workbook/utils/excel.py index 09bd2542..68b4c7af 100644 --- a/resources/home/dnanexus/generate_workbook/utils/excel.py +++ b/resources/home/dnanexus/generate_workbook/utils/excel.py @@ -17,6 +17,8 @@ from openpyxl.styles import Alignment, Border, DEFAULT_FONT, Font, Side from openpyxl.styles.fills import PatternFill from openpyxl.utils import get_column_letter +from openpyxl.worksheet.datavalidation import DataValidation +from openpyxl.styles.protection import Protection import pandas as pd from .utils import is_numeric @@ -28,6 +30,12 @@ DEFAULT_FONT.name = 'Calibri' +# row and col counts that are to be unlocked next to +# populated table in all sheets if it is dias pipeline +# required for 'lock_sheet' function +ROW_TO_UNLOCK = 200 +COL_TO_UNLOCK = 200 + class excel(): """ @@ -74,12 +82,17 @@ def generate(self) -> None: """ self.write_summary() if self.args.acmg: - self.write_reporting_template() + for i in range(1, self.args.acmg+1): + self.write_reporting_template(i) self.write_variants() self.write_additional_files() self.write_images() self.workbook.save(self.args.output) + if self.args.acmg and self.args.lock_sheet: + self.protect_rename_sheets() + if self.args.acmg: + self.drop_down() print('Done!') @@ -133,7 +146,7 @@ def summary_sheet_cell_colour_key(self, row_count, to_bold) -> Union[int, list]: colour_col = 2 max_colour_rows_written = 0 - # write colouring applied to each field as seperate column in summary + # write colouring applied to each field as separate column in summary for column, conditions in cols_to_colours.items(): colour_row = row_count + 1 column_letter = get_column_letter(colour_col) @@ -381,7 +394,7 @@ def dias_summary(self) -> None: self.summary.cell(1, 1).value = "Sample ID:" self.summary.cell(1, 5).value = "Clinical Indication(s):" self.summary.cell(2, 5).value = "Panel(s):" - self.summary.cell(34, 1).value = "Total records:" + self.summary.cell(28, 1).value = "Total records:" # get sample name from vcf, should only be one but handle everything # list-wise just in case @@ -405,7 +418,7 @@ def dias_summary(self) -> None: json.dump(details_dict, details_json) # write total rows in each sheet - count = 34 + count = 28 # cells to make bold to_bold = [] @@ -486,9 +499,6 @@ def dias_summary(self) -> None: self.summary.cell(22, 7).value = "WS#" self.summary.cell(22, 8).value = "Confirmed (Y/N)" - self.summary.cell(28, 2).value = "GEM comments summary" - self.summary.cell(28, 4).value = "Date" - # merge some title columns that have longer text self.summary.merge_cells( start_row=1, end_row=1, start_column=2, end_column=4) @@ -502,18 +512,14 @@ def dias_summary(self) -> None: start_row=21, end_row=21, start_column=2, end_column=8) self.summary.merge_cells( start_row=16, end_row=16, start_column=4, end_column=5) - self.summary.merge_cells( - start_row=28, end_row=28, start_column=2, end_column=3) - self.summary.merge_cells( - start_row=28, end_row=28, start_column=4, end_column=6) # titles to set to bold to_bold += [ - "A1", "A34", "A35", "A36","A38", "B1", - "B9", "B16", "B21", "B22", "B28", "B34", "B35", "B36", "B37", - "C16", "C22", "D16", "D22", "D28", "E1", "E2", "E22", - "F16", "F22", "G16", "G22", "H16", "H22", "I16" - ] + "A1", "A28", "B1", "B9", "B16", "B21", "B22", + "B28", "B29", "C16", "C22", "D16", "D22", + "E1", "E2", "E22", "F16", "F22", "G16", + "G22", "H16", "H22", "I16" + ] for cell in to_bold: self.summary[cell].font = Font(bold=True, name=DEFAULT_FONT.name) @@ -532,8 +538,8 @@ def dias_summary(self) -> None: blueFill = PatternFill(patternType="solid", start_color="0CABA8") colour_cells = [ - "B9", "B16", "B21", "B22", "B28", "C16", "C22", "D16", "D22", - "D28", "E22", "F16", "F22", "G16", "G22", "H16", "H22", "I16" + "B9", "B16", "B21", "B22", "C16", "C22", "D16", "D22", + "E22", "F16", "F22", "G16", "G22", "H16", "H22", "I16" ] for cell in colour_cells: self.summary[cell].fill = blueFill @@ -541,138 +547,189 @@ def dias_summary(self) -> None: # set borders around table areas row_ranges = [ 'B9:E9', 'B10:E10', 'B11:E11', 'B12:E12', 'B13:E13', - 'B16:I16', 'B17:I17', 'B18:I18', - 'B21:H21', 'B22:H22', 'B23:H23', 'B24:H24', 'B25:H25', - 'B28:F28', 'B29:F29', 'B30:F30', 'B31:F31', 'B32:F32' - ] + 'B16:I16', 'B17:I17', 'B18:I18', 'B21:H21', 'B22:H22', + 'B23:H23', 'B24:H24', 'B25:H25' + ] for row in row_ranges: for cells in self.summary[row]: for cell in cells: cell.border = THIN_BORDER - - - def write_reporting_template(self) -> None: + if self.args.lock_sheet: + cell_to_unlock = ["B10", "C10", "D10", "E10", "B11", "C11", "D11", + "E11", "B12", "C12", "D12", "E12", "B13", "C13", + "D13", "E13", "B17", "C17", "D17", "E17", "F17", + "G17", "H17", "I17", "B18", "C18", "D18", "E18", + "F18", "G18", "H18", "I18", "B23", "C23", "D23", + "E23", "F23", "G23", "H23", "B24", "C24", "D24", + "E24", "F24", "G24", "H24", "B25", "C25", "D25", + "E25", "F25", "G25", "H25" + ] + self.lock_sheet(ws=self.summary, + cell_to_unlock=cell_to_unlock, + start_row=self.summary.max_row+1, + start_col=10, + unlock_row_num=ROW_TO_UNLOCK, + unlock_col_num=COL_TO_UNLOCK) + + def write_reporting_template(self, report_sheet_num) -> None: """ - Writes sheet to Excel file with formatting for reporting against + Writes sheet(s) to Excel file with formatting for reporting against ACMG criteria """ - report = self.workbook.create_sheet('report') + report = self.workbook.create_sheet(f"interpret_{report_sheet_num}") titles = { "Gene": [2, 2], "HGVSc": [2, 3], "HGVSp": [2, 4], - "Evidence": [4, 3], - "Pathogenic": [4, 7], - "Yes / No": [4, 8], - "Benign": [4, 9], - "Yes / No": [4, 10], - "Associated disease": [5, 2], - "Known inheritance": [6, 2], - "Prevalence": [7, 2], - "Estimated allele frequency": [8, 2], - "Null variant where LOF function of disease": [9, 2], - "Same AA change as pathogenic change,regardless\nof nucleotide": [10, 2], - "De novo inheritance or inheritance confirmed / observed in\nhealthy adult": [11, 2], - "In vivo / in vitro functional studies": [12, 2], - "Prevalence in affected > controls": [13, 2], - "In mutational hotspot, without benign variation": [14, 2], - "Freq in controls eg ExAC, low/absent or >5%": [15, 2], - "Confirmation of in trans/in cis with pathogenic variant": [16, 2], - "In frame protein length change, non repeating vs. repeating": [17, 2], - "Same AA as a different pathogenic change": [18, 2], - "Assumed de novo (no confirmation)": [19, 2], - "Cosegregation with disease in family, not in unnaffected": [20, 2], - ("Missense where low rate of benign missense and common\nmechanism" - "(Z score >3), or missense where LOF common\nmechanism"): [21, 2], - "Multiple lines of computational evidence (Cant use with PS3)": [22, 2], + "EVIDENCE": [8, 3], + "PATHOGENIC": [8, 7], + "P_STRENGTH": [8, 8], + "P_POINTS": [8, 9], + "BENIGN": [8, 10], + "B_STRENGTH": [8, 11], + "B_POINTS": [8, 12], + "Associated disease": [4, 2], + "Known inheritance": [5, 2], + "Prevalence": [6, 2], + "Estimated allele frequency": [9, 2], + ("Null variant in a gene where LOF is known mechanism " + "of disease\nand non-canonical splice variants where " + "RNA analysis confirms\naberrant transcription"): [10, 2], + ("Same AA change as previously established pathogenic " + "variant\nregardless of nucleotide change and splicing " + "variants within\nsame motif with identical predicted " + "effect"): [11, 2], + ("De novo (confirmed) / observed in\nhealthy adult " + "with full penetrance expected at an early age"): [12, 2], + "In vivo / in vitro functional studies": [13, 2], + "Prevalence in affected > controls": [14, 2], + ("In mutational hot spot and/or critical functional " + "domain, without\nbenign variation"): [15, 2], + "Freq in controls eg gnomAD, low/absent or >5%": [16, 2], + "Detected in trans/in cis with pathogenic variant": [17, 2], + ("In frame protein length change/stop-loss variants, " + "non repeat\nvs. repeat region"): [18, 2], + ("Missense change at AA where different likely/pathogenic\n" + "missense change seen before"): [19, 2], + "Assumed de novo (no confirmation)": [20, 2], + "Cosegregation with disease in family, not in unaffected": [21, 2], + ("Missense where low rate of benign missense and common\n" + "mechanism (Z score ≥3.09), or missense where LOF common\n" + "mechanism"): [22, 2], + "Multiple lines of computational evidence": [23, 2], ("Phenotype/FH specific for disease of single etiology, or\n" - "alternative genetic cause of disease detected"): [23, 2], - "Reputable source reports but evidence not available": [24, 2], - "Synonymous change, no affect on splicing, not conserved": [25, 2], - "ACMG Classification": [26, 2], + "alternative genetic cause of disease detected"): [24, 2], + ("Synonymous change, no affect on splicing, not conserved; " + "splice\nvariants confirmed to have no impact"): [25, 2], + "POINTS": [26, 7] } - for key, val in titles.items(): report.cell(val[0], val[1]).value = key report.cell(val[0], val[1]).font = Font( bold=True, name=DEFAULT_FONT.name ) - classifications = { - "Extra": [(5, 7), (6, 7), (7, 7), (8, 7), (5, 9), (6, 9), (7, 9)], - "PVS1": [(9, 7)], - "PS1": [(10, 7)], - "PS2": [(11, 7)], - "PS3": [(12, 7)], - "PS4": [(13, 7)], - "PM1": [(14, 7)], - "PM2": [(15, 7)], - "PM3": [(16, 7)], - "PM4": [(17, 7)], - "PM5": [(18, 7)], - "PM6": [(19, 7)], - "PP1": [(20, 7)], - "PP2": [(21, 7)], - "PP3": [(22, 7)], - "PP4": [(23, 7)], - "PP5": [(24, 7)], - "BS1": [(8, 9)], - "BS2": [(11, 9)], - "BS3": [(12, 9)], - "BA1": [(15, 9)], - "BP2": [(16, 9)], - "BP3": [(17, 9)], - "BS4": [(20, 9)], - "BP1": [(21, 9)], - "BP4": [(22, 9)], - "BP5": [(23, 9)], - "BP6": [(24, 9)], - "BP7": [(25, 9)] + "PVS1": [(10, 7)], + "PS1": [(11, 7)], + "PS2": [(12, 7)], + "PS3": [(13, 7)], + "PS4": [(14, 7)], + "PM1": [(15, 7)], + "PM2": [(16, 7)], + "PM3": [(17, 7)], + "PM4": [(18, 7)], + "PM5": [(19, 7)], + "PM6": [(20, 7)], + "PP1": [(21, 7)], + "PP2": [(22, 7)], + "PP3": [(23, 7)], + "PP4": [(24, 7)], + "BS1": [(9, 10)], + "BS2": [(12, 10)], + "BS3": [(13, 10)], + "BA1": [(16, 10)], + "BP2": [(17, 10)], + "BP3": [(18, 10)], + "BS4": [(21, 10)], + "BP1": [(22, 10)], + "BP4": [(23, 10)], + "BP5": [(24, 10)], + "BP7": [(25, 10)] } for key, values in classifications.items(): for val in values: report.cell(val[0], val[1]).value = key - # nice formatting of title text - for cell in report['B']: - breaks = str(cell.value).count("\n") + 1 - report.row_dimensions[cell.row].height = 20 * breaks - report[f"B{cell.row}"].alignment = Alignment( - wrapText=True, vertical="center" - ) + # nice formatting of title text and columns + for col in (['B', 'C', 'G', 'H', 'I', 'J', 'K', 'L']): + for row in range(8, 26): + if row == 8: + report[f"{col}{row}"].alignment = Alignment( + wrapText=True, vertical="center", + horizontal="center" + ) + elif (col == "B" and row != 8) or (col == "C" and row != 8): + report.row_dimensions[row].height = 50 + report[f"{col}{row}"].alignment = Alignment( + wrapText=True, vertical="center" + ) + else: + report[f"{col}{row}"].alignment = Alignment( + wrapText=True, vertical="center", + horizontal="center" + ) + report[f"{col}{row}"].font = Font(size=14, + name=DEFAULT_FONT.name) + + for col in (['B', 'C', 'D']): + for row in range(2, 7): + report.row_dimensions[row].height = 20 + report[f"{col}{row}"].font = Font(size=14, bold=True, + name=DEFAULT_FONT.name) + + # merge associated disease, inheritance and prevalence cells + for row in range(4, 8): + report.merge_cells( + start_row=row, end_row=row, start_column=3, end_column=12) # merge evidence cells - for row in range(4, 26): + for row in range(8, 27): report.merge_cells( start_row=row, end_row=row, start_column=3, end_column=6) + # merge POINTS cells + report.merge_cells( + start_row=26, end_row=26, start_column=8, end_column=12) + # set appropriate widths - report.column_dimensions['B'].width = 60 + report.column_dimensions['B'].width = 62 report.column_dimensions['C'].width = 35 report.column_dimensions['D'].width = 35 report.column_dimensions['E'].width = 5 report.column_dimensions['F'].width = 5 - report.column_dimensions['G'].width = 12 - + report.column_dimensions['G'].width = 14 + report.column_dimensions['H'].width = 14 + report.column_dimensions['I'].width = 14 + report.column_dimensions['J'].width = 14 + report.column_dimensions['K'].width = 14 + report.column_dimensions['L'].width = 14 # do some colouring colour_cells = { - 'FAC090': ['B2', 'B3', 'C2', 'C3', 'D2', 'D3'], - '8EB4E3': ['B4', 'B5', 'B6', 'B7', 'B8', 'C4', 'G4', 'H4', 'I4', 'J4'], - 'FFFF99': ['B26', 'G5', 'G6', 'G7', 'G8', 'I5', 'I6', 'I7', 'I8'], - 'E46C0A': ['G9', 'G10', 'G11', 'G12', 'G13'], - 'FFC000': ['G14', 'G15', 'G16', 'G17', 'G18', 'G19'], - 'FFFF00': ['G20', 'G21', 'G22', 'G23', 'G24'], - '00B0F0': ['I8', 'I11', 'I12', 'I20'], - '92D050': ['I16', 'I17', 'I21', 'I22', 'I23', 'I24', 'I25'], - '0070C0': ['I15'], - 'FF0000': ['G9'], - 'D9D9D9': [ - 'I9', 'I10', 'J9', 'J10', 'I13', 'I14', 'J13', 'J14', - 'I18', 'I19', 'J18', 'J19', 'G25', 'H25' - ] + 'E46C0A': ['G11', 'G12', 'G13', 'G14'], + 'FFC000': ['G15', 'G16', 'G17', 'G18', 'G19', 'G20'], + 'FFFF00': ['G21', 'G22', 'G23', 'G24'], + '00B0F0': ['J9', 'J12', 'J13', 'J21'], + '92D050': ['J17', 'J18', 'J22', 'J23', 'J24', 'J25'], + '0070C0': ['J16'], + 'FF0000': ['G10'], + 'D9D9D9': ['G9', 'G25', 'H9', 'H25', 'I9', 'I25', + 'J10', 'J11', 'J14', 'J15', 'J19', 'J20', + 'K10', 'K11', 'K14', 'K15', 'K19', 'K20', + 'L10', 'L11', 'L14', 'L15', 'L19', 'L20' + ] } for colour, cells in colour_cells.items(): @@ -684,20 +741,22 @@ def write_reporting_template(self) -> None: # add some borders row_ranges = { 'horizontal': [ - 'B3:D3', 'B4:J4', 'B5:J5', - 'B6:J6', 'B7:J7', 'B8:J8', 'B9:J9', 'B10:J10', 'B11:J11', - 'B12:J12', 'B13:J13', 'B14:J14', 'B15:J15', 'B16:J16', - 'B17:J17', 'B18:J18', 'B19:J19', 'B20:J20', 'B21:J21', - 'B22:J22', 'B23:J23', 'B24:J24', 'B25:J25' + 'B3:D3', 'B4:J4', 'B5:L5', + 'B6:L6', 'B7:L7', 'B8:L8', 'B9:L9', 'B10:L10', 'B11:L11', + 'B12:L12', 'B13:L13', 'B14:L14', 'B15:L15', 'B16:L16', + 'B17:L17', 'B18:L18', 'B19:L19', 'B20:L20', 'B21:L21', + 'B22:L22', 'B23:L23', 'B24:L24', 'B25:L25' ], 'horizontal_thick': [ - 'B2:D2', 'B4:J4', 'B26:J26', 'B27:J27' + 'B2:D2', 'B4:L4', 'B7:L7', 'B8:L8', 'B26:L26', 'B27:L27' ], 'vertical': [ - 'E2:E3', 'G4:G26', 'H4:H26', 'I4:I26', 'J4:J26' + 'E2:E3', 'G8:G26', 'H8:H25', 'I8:I25', 'J8:J25', + 'K8:K25', 'L8:L25', ], 'vertical_thick': [ - 'B2:B26', 'C2:C26', 'K4:K26', 'E2:E3' + 'B2:B6', 'B8:B26', 'C2:C6', 'C8:C26', 'M4:M6', 'M8:M26', + 'E2:E3' ] } @@ -716,7 +775,25 @@ def write_reporting_template(self) -> None: if side == 'vertical_thick': cell_border.left = MEDIUM cell.border = cell_border - + if self.args.lock_sheet: + cell_to_unlock = ["B3", "C3", "D3", "C4", "C5", "C6", + "C9", "C10", "C11", "C12", "C13", "C14", "C15", + "C16", "C17", "C18", "C19", "C20", "C21", "C22", + "C23", "C24", "C25", "C26", "H10", "H11", + "H12", "H13", "H14", "H15", "H16", "H17", "H18", + "H19", "H20", "H21", "H22", "H23", "H24", "I10", + "I11", "I12", "I13", "I14", "I15", "I16", "I17", + "I18", "I19", "I20", "I21", "I22", "I23", "I24", + "K9", "K12", "K13", "K16", "K17", "K18", "K21", + "K22", "K23", "K24", "K25", "L9", "L12", "L13", + "L16", "L17", "L18", "L21", "L22", "L23", "L24", + "L25", "H26"] + self.lock_sheet(ws=report, + cell_to_unlock=cell_to_unlock, + start_row=report.max_row, + start_col=report.max_column, + unlock_row_num=ROW_TO_UNLOCK, + unlock_col_num=COL_TO_UNLOCK) def write_variants(self) -> None: """ @@ -784,6 +861,24 @@ def write_variants(self) -> None: # set Excel types for numeric cells to suppress Excel warnings self.set_types(curr_worksheet) + if self.args.acmg and self.args.lock_sheet: + num_variant = vcf.shape[0] + cell_to_unlock = [] + comment_col = self.get_col_letter(curr_worksheet, + "Comment") + interpreted_col = self.get_col_letter(curr_worksheet, + "Interpreted") + for row in range(2, num_variant+2): + if comment_col is not None: + cell_to_unlock.append(f"{comment_col}{row}") + if curr_worksheet.title == self.args.sheets[0]: + cell_to_unlock.append(f"{interpreted_col}{row}") + self.lock_sheet(ws=curr_worksheet, + cell_to_unlock=cell_to_unlock, + start_row=num_variant+2, + start_col=curr_worksheet.max_column+1, + unlock_row_num=ROW_TO_UNLOCK, + unlock_col_num=COL_TO_UNLOCK) self.workbook.save(self.args.output) # Write out dict to file @@ -819,7 +914,7 @@ def write_additional_files(self) -> None: col_letter = get_column_letter(idx) curr_worksheet.column_dimensions[col_letter].width = length - + # set widths of any columns we have specified below in set_width() # to override the above defaults # get column names from first row of sheet @@ -978,7 +1073,7 @@ def set_dp(self, worksheet) -> None: """ Set the dp to display values to (i.e. 0.14236 to dp -> 0.14). - Original value will remain unchanged in the formaula bar + Original value will remain unchanged in the formula bar on selecting the cell, just the view of data is adjusted through Excel number formatting @@ -994,13 +1089,14 @@ def set_dp(self, worksheet) -> None: } for column, dp in col_to_dp.items(): + dp = '0' * dp for ws_column in worksheet.iter_cols(1, worksheet.max_column): if ws_column[0].value.lower() == column.lower(): # column is a match, loop over every cell in the column # to set formatting since there's no nicer way to apply # the style in openpyxl for row in ws_column: - row.number_format = '#,##0.00' + row.number_format = f'#,##0.{dp}' def convert_colour(self, colour) -> str: @@ -1050,7 +1146,7 @@ def colour_hyperlinks(self, worksheet) -> None: def colour_cells(self, worksheet) -> None: """ Conditionally colours cells in a variant worksheet by user specified - coniditons and colours for a given column with --colour. + conditions and colours for a given column with --colour. Arguments will be in the following formats: - VF:>=0.9:green => single condition @@ -1083,7 +1179,7 @@ def colour_cells(self, worksheet) -> None: "<=": operator.le } - # dict to add any previously coloured cells that are likley from + # dict to add any previously coloured cells that are likely from # overlapping expressions -> raise error if anything is present errors = defaultdict(dict) @@ -1168,7 +1264,7 @@ def colour_cells(self, worksheet) -> None: ) if errors: error_message = ( - f"\n{'#' * 35} ERROR {'#' * 35}\n\n" + f"\n{'#' * 35} ERROR {'#' * 35}\n\n" "Overlapping colouring of cells, the following " "cells colour were not changed due \nto being previously coloured:" ) @@ -1207,13 +1303,10 @@ def set_widths(self, worksheet, sheet_columns) -> None: "ref": 10, "alt": 10, "qual": 10, - "af": 6, "dp": 10, 'ac': 10, 'af': 10, 'an': 10, - 'dp': 8, - 'qual': 8, 'baseqranksum': 15, 'clippingranksum': 16, "symbol": 9, @@ -1311,7 +1404,7 @@ def colour_metrics_output(self, file_df, worksheet) -> None: of rows dependent on the sample value and upper and lower limits File is formatted as: - + Metric (UOM) LSL Guideline USL Guideline Sample COVERAGE_MAD (Count) 0 0.21 0.12 MEDIAN_BIN_COUNT_CNV_TARGET 1 NA 6.1 @@ -1366,14 +1459,14 @@ def colour_metrics_output(self, file_df, worksheet) -> None: green.append(idx) else: red.append(idx) - + # PCT EXON 50x and 100x using more stringent thresholds than in file if float(file_df.iloc[:, 3][8]) >= 95: # 50x green.append(8) else: red.append(8) - + if float(file_df.iloc[:, 3][25]) >= 90: # 100x green.append(25) @@ -1385,7 +1478,7 @@ def colour_metrics_output(self, file_df, worksheet) -> None: amber.append(1) else: green.append(1) - + to_colour.extend([1, 8, 25]) for idx in to_colour: @@ -1424,3 +1517,167 @@ def colour_metrics_output(self, file_df, worksheet) -> None: start_row=6, end_row=6, start_column=6, end_column=10) worksheet.merge_cells( start_row=7, end_row=7, start_column=6, end_column=10) + + def drop_down(self) -> None: + """ + Function to add drop-downs in the report tab for entering + ACMG criteria for classification, as well as a boolean + drop down into the additional 'Interpreted' column of + the variant sheet(s). + """ + wb = load_workbook(filename=self.args.output) + + # adding dropdowns in report table + for sheet_num in range(1, self.args.acmg+1): + # adding strength dropdown except for BA1 + report_sheet = wb[f"interpret_{sheet_num}"] + cells_for_strength = ['H10', 'H11', 'H12', 'H13', 'H14', 'H15', + 'H16', 'H17', 'H18', 'H19', 'H20', 'H21', + 'H22', 'H23', 'H24', 'K9', 'K12', 'K13', + 'K17', 'K18', 'K21', 'K22', 'K23', 'K24', + 'K25'] + strength_options = '"Very Strong, Strong, Moderate, \ + Supporting, NA"' + self.get_drop_down(dropdown_options=strength_options, + prompt='Select from the list', + title='Strength', + sheet=report_sheet, + cells=cells_for_strength) + + # add stregth for BA1 + BA1_options = '"Stand-Alone, Very Strong, Strong, Moderate, \ + Supporting, NA"' + self.get_drop_down(dropdown_options=BA1_options, + prompt='Select from the list', + title='Strength', + sheet=report_sheet, + cells=['K16']) + + # adding final classification dropdown + report_sheet['B26'] = 'FINAL ACMG CLASSIFICATION' + report_sheet['B26'].font = Font(bold=True, name=DEFAULT_FONT.name) + class_options = '"Pathogenic,Likely Pathogenic, \ + Uncertain Significance, \ + Likely Benign, Benign"' + self.get_drop_down(dropdown_options=class_options, + prompt='Select from the list', + title='ACMG classification', + sheet=report_sheet, + cells=['C26']) + + # adding Interpreted column dropdown in the first variant sheet tab + first_variant_sheet = wb[self.args.sheets[0]] + interpreted_options = '"YES,NO"' + col_letter = self.get_col_letter(first_variant_sheet, "Interpreted") + num_variant = self.vcfs[0].shape[0] + if num_variant > 0: + cells_for_variant = [] + for i in range(num_variant): + cells_for_variant.append(f"{col_letter}{i+2}") + self.get_drop_down(dropdown_options=interpreted_options, + prompt='Choose YES or NO', + title='Variant interpreted or not?', + sheet=first_variant_sheet, + cells=cells_for_variant) + wb.save(self.args.output) + + def lock_sheet(self, ws, cell_to_unlock, start_row, start_col, + unlock_row_num, unlock_col_num) -> None: + """ + locking the workbooksheet (password protected) and unlocking + specific cells inside the table and regions outside table + + Parameters: + ----------- + ws: str + current worksheet + cell_to_unlock: list + list containing cells to unlock + start_row: int + integer indicating row starting to unlock + start_col: int + integer indicating col starting to unlock + unlock_row_num: int + integer indication number of row(s) to unlock + unlock_col_num: int + integer indication number of col(s) to unlock + """ + ws.protection.sheet = True + ws.protection.password = "sheet_is_protected" + + # unlocking specific cells inside the table + for cell in cell_to_unlock: + ws[cell].protection = Protection(locked=False) + + # unlocking regions outside table + for col in range(1, start_col+unlock_col_num): + col_letter = get_column_letter(col) + for row in range(start_row, start_row+unlock_row_num): + row_num = row + cell = f"{col_letter}{row_num}" + ws[cell].protection = Protection(locked=False) + for col in range(start_col, start_col+unlock_col_num): + col_letter = get_column_letter(col) + for row in range(1, start_row): + row_num = row + cell = f"{col_letter}{row_num}" + ws[cell].protection = Protection(locked=False) + + def get_col_letter(self, worksheet, col_name) -> str: + """ + Getting the column letter with specific col name + + Parameters + ---------- + worksheet: openpyxl.Writer + writer object of current sheet + col_name: str + name of column to get col letter + Return + ------- + str + column letter for specific column name + """ + col_letter = None + for column_cell in worksheet.iter_cols(1, worksheet.max_column): + if column_cell[0].value == col_name: + col_letter = column_cell[0].column_letter + + return col_letter + + def protect_rename_sheets(self) -> None: + """ + prevent renaming sheets in the workbook + """ + wb = load_workbook(filename=self.args.output) + wb.security.lockStructure = True + wb.security.workbookPassword = "sheet_name_protected" + wb.save(self.args.output) + + def get_drop_down(self, dropdown_options, prompt, title, sheet, cells) -> None: + """ + create the drop-downs items for designated cells + + Parameters + ---------- + dropdown_options: str + str containing drop-down items + prompt: str + prompt message for drop-down + title: str + title message for drop-down + sheet: openpyxl.Writer writer object + current worksheet + cells: list + list of cells to add drop-down + """ + options = dropdown_options + val = DataValidation(type='list', formula1=options, + allow_blank=True) + val.prompt = prompt + val.promptTitle = title + sheet.add_data_validation(val) + for cell in cells: + val.add(sheet[cell]) + val.showInputMessage = True + val.showErrorMessage = True diff --git a/resources/home/dnanexus/generate_workbook/utils/filters.py b/resources/home/dnanexus/generate_workbook/utils/filters.py index 1d54189a..7e84503a 100644 --- a/resources/home/dnanexus/generate_workbook/utils/filters.py +++ b/resources/home/dnanexus/generate_workbook/utils/filters.py @@ -1,5 +1,4 @@ import fileinput -import os import re import subprocess import sys diff --git a/resources/home/dnanexus/generate_workbook/utils/utils.py b/resources/home/dnanexus/generate_workbook/utils/utils.py index b51bcef1..1ba4291e 100644 --- a/resources/home/dnanexus/generate_workbook/utils/utils.py +++ b/resources/home/dnanexus/generate_workbook/utils/utils.py @@ -80,7 +80,7 @@ def map_chr_to_nc(chrom, build) -> str: Parameters ---------- chrom : str - chromsome to return NC value of + chromosome to return NC value of build : int reference build inferred from reference stored in vcf header, will be either 37 or 38 @@ -159,13 +159,13 @@ def build(self, column, value, build) -> str: as any other required fields (i.e. chrom, pos, ref, alt etc.) build : int either 37 or 38, inferred perviously from reference parsed from - vcf header, controls URL to use for those that are build specific + vcf header, controls URL to use for those that are build specific Returns ------- str Excel formatted hyperlink if a URL is present for that resource, - else just the original value is returned + else just the original value is returned """ if ( not value[column] or @@ -228,7 +228,7 @@ def build(self, column, value, build) -> str: # values for everything else which is hyperlinked # needs to be cast to string return f'=HYPERLINK("{url}", "{value[column]}")' - + def gnomad(self, value, build) -> str: # gnomad URL has build specific suffix if build == 37: @@ -269,7 +269,7 @@ def mastermind(self, value, build, column) -> str: # build URL and set value to display equal to what is in the URL url = self.urls.get('mastermind') url = f'{url}{nc_id}:g.{value.POS}{value.REF}%3E{value.ALT}' - + return url def clinvar(self, clinvar_id) -> str: @@ -289,7 +289,7 @@ def decipher(self, value, build, column) -> str: def oncokb(self, value) -> str: return f"{self.urls.get('oncokb')}{value.CSQ_SYMBOL}" - + def cbioportal(self, value) -> str: url = self.urls.get('cbioportal') return f"{url.replace('SYMBOL', value.CSQ_SYMBOL)}" @@ -305,7 +305,7 @@ def parse_cvo(cvo_df) -> pd.DataFrame: local app CombinedVariantOutput.tsv file. Rest of file contains file metrics and SNVs, but as we already have the VCF of variants we will exclude this to just keep the additional metrics. - + This file is structured with the following sections: [Analysis Details] @@ -354,7 +354,7 @@ def parse_metrics_output(metrics_df, sample_vcf) -> pd.DataFrame: """ Parse out sample metrics from run level MetricsOutput.tsv TSO500 local app output file if provided to --additional_files. - + Uses first VCF file prefix to assume as sample name for parsing out of metrics file. @@ -376,7 +376,7 @@ def parse_metrics_output(metrics_df, sample_vcf) -> pd.DataFrame: if not metrics_idx: # file doesn't have expected field for MetricsOutput print( - f'WARNING: Could not parse "[DNA Library QC Metrics]" from ' + 'WARNING: Could not parse "[DNA Library QC Metrics]" from ' 'MetricsOutput.tsv. Writing whole file to sheet.' ) return metrics_df @@ -400,7 +400,7 @@ def parse_metrics_output(metrics_df, sample_vcf) -> pd.DataFrame: f'prefix: {vcf_prefix}. Writing whole file to sheet.' ) return metrics_df - + if len(idx) > 1: # found more than one match for given prefix, return whole file print( @@ -408,8 +408,8 @@ def parse_metrics_output(metrics_df, sample_vcf) -> pd.DataFrame: f'for prefix: {vcf_prefix}. Writing whole file to sheet.' ) return metrics_df - + # select first 3 cols with labels and our sample column metrics_df = metrics_df.iloc[:, [0, 1, 2, idx[0]]] - return metrics_df \ No newline at end of file + return metrics_df diff --git a/resources/home/dnanexus/generate_workbook/utils/vcf.py b/resources/home/dnanexus/generate_workbook/utils/vcf.py index e4a607ad..f408fad0 100644 --- a/resources/home/dnanexus/generate_workbook/utils/vcf.py +++ b/resources/home/dnanexus/generate_workbook/utils/vcf.py @@ -2,6 +2,7 @@ import os from pathlib import Path, PurePath import re +import shutil import subprocess import sys from typing import Union @@ -71,15 +72,18 @@ def process(self) -> None: # read in the each vcf, optionally filter, and then apply formatting for vcf in self.args.vcfs: # names for intermediary vcfs - split_vcf = f"{Path(vcf).stem}.split.vcf" - split_vcf_gz = f"{Path(vcf).stem}.split.vcf.gz" - filter_vcf = f"{Path(vcf).stem}.filter.vcf" - filter_vcf_gz = f"{Path(vcf).stem}.filter.vcf.gz" + vcf_stem = Path(vcf).stem.replace('.vcf', '') + split_vcf = f"{vcf_stem}.split.vcf" + split_vcf_gz = f"{vcf_stem}.split.vcf.gz" + filter_vcf = f"{vcf_stem}.filter.vcf" + filter_vcf_gz = f"{vcf_stem}.filter.vcf.gz" + # if VCF annotated with VEP and has not been split with bcftools, # first split multiple transcript annotation to separate VCF # records, and separate CSQ fields to separate INFO fields - self.bcftools_pre_process(vcf, split_vcf) - self.bgzip(split_vcf) + if self.check_vep_vcf(vcf, split_vcf): + self.bcftools_pre_process(vcf, split_vcf) + self.bgzip(split_vcf) if self.args.filter: # filter vcf against specified filters using bcftools @@ -155,10 +159,15 @@ def process(self) -> None: self.filtered_vcfs = self.merge(self.filtered_vcfs) self.vcfs.append(self.filtered_vcfs[0]) self.args.sheets.append('excluded') - + + if self.args.summary == 'dias': + # if it is dias pipeline, add the empty col + # named Interpreted in the first variant sheet + self.vcfs[0]['Interpreted'] = '' + if self.args.split_hgvs: self.split_hgvs() - + if self.args.add_raw_change: self.add_raw_change() @@ -211,7 +220,7 @@ def bcftools_pre_process(self, vcf, output_vcf) -> None: # check total rows before splitting pre_split_total = subprocess.run( f"zgrep -v '^#' {vcf} | wc -l", shell=True, - capture_output=True + capture_output=True, check=True ) cmd = ( @@ -219,7 +228,7 @@ def bcftools_pre_process(self, vcf, output_vcf) -> None: f"bcftools annotate -x INFO/CSQ -o {output_vcf}" ) - output = subprocess.run(cmd, shell=True, capture_output=True) + output = subprocess.run(cmd, shell=True, capture_output=True, check=False) assert output.returncode == 0, ( f"\n\tError in splitting VCF with bcftools +split-vep. VCF: {vcf}" @@ -230,7 +239,7 @@ def bcftools_pre_process(self, vcf, output_vcf) -> None: # check total rows after splitting post_split_total = subprocess.run( f"zgrep -v '^#' {output_vcf} | wc -l", shell=True, - capture_output=True + capture_output=True, check=True ) print( @@ -258,7 +267,7 @@ def bgzip(self, file) -> None: """ output = subprocess.run( f"bgzip --force {file} -c > {file}.gz", - shell=True, capture_output=True + shell=True, capture_output=True, check=False ) assert output.returncode == 0, ( @@ -268,6 +277,60 @@ def bgzip(self, file) -> None: ) + def check_vep_vcf(self, vcf, split_vcf) -> bool: + """ + Checks if VCF is annotated with VEP and has not been previously + split with bcftools +split-vep. + + This is required to control if to call self.bcftools_pre_process(), + if it is not annotated or has been previously split, then we + create a tmp vcf with the same name as when split to use downstream. + + Parameters + ---------- + vcf : str + filename of vcf to check + split_vcf : str + filename of tmp vcf to create if not annotated / already split + + Returns + ------- + bool + True if annotated and not already split, False if not + + Outputs + ------- + file + vcf file with name from split_vcf input + file + bgzipped equivalent of above + """ + header, _ = self.parse_header(vcf) + + if not any([ + x.startswith('##VEP') for x in header + ]) or any([ + x.startswith('##bcftools_split-vep') for x in header + ]): + # VCF not annotated with VEP or annotated with VEP but + # already split => create tmp vcf to continue processing + print('VCF not annotated with VEP or already split, continuing...') + if vcf.endswith('.gz'): + input_file = gzip.open(vcf, 'rb') + else: + input_file = open(vcf, 'rb') + + with open(split_vcf, 'wb') as output_file: + shutil.copyfileobj(input_file, output_file) + input_file.close() + + self.bgzip(split_vcf) + + return False + else: + return True + + def read(self, vcf, sample=None) -> pd.DataFrame: """ Reads given vcf into pd.DataFrame and parses header @@ -309,7 +372,7 @@ def read(self, vcf, sample=None) -> pd.DataFrame: if self.args.add_comment_column: # add empty 'Comment' column to end of df vcf_df['Comment'] = '' - + if self.args.add_classification_column: # add empty 'Classification' column to end of df vcf_df['Classification'] = '' @@ -319,7 +382,7 @@ def read(self, vcf, sample=None) -> pd.DataFrame: def read_additional_files(self): """ - Attempt to read in additional tabulated files to dataframes for + Attempt to read in additional tabulated files to dataframes for writing as additional sheets to the output workbook Updates self.additional_files dictionary with file_prefix : dataframe @@ -370,7 +433,7 @@ def read_additional_files(self): 'parsing out TMB, MSI and Amplifications' ) file_df = parse_cvo(cvo_df=file_df) - + if file.endswith('MetricsOutput.tsv'): # file passed is run level MetricsOutput.tsv from Illumina # TSO500 app, attempt to parse out just sample metrics to display @@ -424,7 +487,7 @@ def parse_header(self, vcf) -> Union[list, list]: else: break - fh.close + fh.close() columns = [x.strip('#') for x in header[-1].split()] columns[-1] = 'SAMPLE' @@ -446,7 +509,7 @@ def parse_reference(self, header) -> None: header : list lines of vcf header """ - ref='' + ref = '' # first check if we can get reference build from VEP command string vep = [x for x in header if x.startswith('##VEP')] @@ -584,7 +647,7 @@ def drop_columns(self) -> None: if invalid: print( - f"WARNING: Columns passed with `--include / --exlcude not " + f"WARNING: Columns passed with `--include / --exclude not " f"present in vcf ({invalid}), skipping these columns..." ) if self.args.exclude: @@ -631,11 +694,11 @@ def order_columns(self) -> None: def add_additional_columns(self) -> None: """ - Append empty columns specified from --aditional_columns for adding + Append empty columns specified from --additional_columns for adding additional hyperlinks to external resources (e.g. decipher, oncoKB etc.) """ for column in self.args.additional_columns: - if column in ['decipher']: + if column.lower() in ['decipher']: # column is only for b38, check if vcf also is if not self.refs: print( @@ -652,7 +715,7 @@ def add_additional_columns(self) -> None: f'adding {column} column.' ) continue - + for idx, vcf in enumerate(self.vcfs): vcf[column] = column self.vcfs[idx] = vcf @@ -660,7 +723,7 @@ def add_additional_columns(self) -> None: def rename_columns(self) -> None: """ - Rename columnns from key value pairs passed from --rename argument, + Rename columns from key value pairs passed from --rename argument, also remove underscores from all names for nicer reading Raises @@ -743,7 +806,7 @@ def merge(self, vcfs) -> None: --add_name argument if provenance of variants in merged dataframe is important """ - # don't attmept to merge empty vcfs as likely to have diff. columns + # don't attempt to merge empty vcfs as likely to have diff. columns vcfs = [x for x in vcfs if not x.empty] return [pd.concat(vcfs).reset_index(drop=True)] @@ -763,7 +826,7 @@ def split_hgvs(self) -> pd.DataFrame: 'splitting HGVS.' ) continue - + # ensure columns we're going to create don't already exist if any(col in vcf.columns for col in ['DNA', 'Protein']): print( @@ -781,14 +844,14 @@ def split_hgvs(self) -> pd.DataFrame: def add_raw_change(self) -> None: """ Adds a column named 'rawChange' of the 'raw' genomic change, formatted - as {CHROM}:g.{POS}{REF}>{ALT}. This is analogous to HGVSg output by + as {CHROM}:g.{POS}{REF}>{ALT}. This is analogous to HGVSg output by VEP, but will not include text such as INV and DEL. """ for idx, vcf in enumerate(self.vcfs): if vcf.empty: self.vcfs[idx]['rawChange'] = '' continue - + if not all( col in vcf.columns for col in ['CHROM', 'POS', 'REF', 'ALT'] ): diff --git a/src/code.sh b/src/code.sh index d174d3b0..7e863934 100755 --- a/src/code.sh +++ b/src/code.sh @@ -91,7 +91,7 @@ main() { if [ "$print_columns" == true ]; then args+="--print_columns "; fi if [ "$summary" ]; then args+="--summary ${summary} "; fi if [ "$human_filter" ]; then args+="--human_filter ${human_filter} "; fi - if [ "$acmg" == true ]; then args+="--acmg "; fi + if [ "$acmg" ]; then args+="--acmg ${acmg} "; fi if [ "$keep_filtered" == true ]; then args+="--keep "; fi if [ "$keep_tmp" == true ]; then args+="--keep_tmp "; fi if [ "$print_header" == true ]; then args+="--print_header "; fi @@ -108,6 +108,7 @@ main() { if [ "$additional_columns" ]; then args+="--additional_columns ${additional_columns} "; fi if [ "$split_hgvs" ]; then args+="--split_hgvs "; fi if [ "$add_raw_change" ]; then args+="--add_raw_change "; fi + if [ "$lock_sheet" == true ]; then args+="--lock_sheet "; fi args+="--out_dir /home/dnanexus/out/xlsx_reports "