##fileformat=VCFv4.4
##INFO=<ID=gnomad_exomes_an,Number=1,Type=Integer,Description="Number of alleles in gnomAD exomes">
##INFO=<ID=gnomad_exomes_hom,Number=1,Type=Integer,Description="Number of hom. alt. carriers in gnomAD exomes">
##INFO=<ID=gnomad_exomes_het,Number=1,Type=Integer,Description="Number of het. alt. carriers in gnomAD exomes">
##INFO=<ID=gnomad_exomes_hemi,Number=1,Type=Integer,Description="Number of hemi. alt. carriers in gnomAD exomes">
##INFO=<ID=gnomad_genomes_an,Number=1,Type=Integer,Description="Number of alleles in gnomAD genomes">
##INFO=<ID=gnomad_genomes_hom,Number=1,Type=Integer,Description="Number of hom. alt. carriers in gnomAD genomes">
##INFO=<ID=gnomad_genomes_het,Number=1,Type=Integer,Description="Number of het. alt. carriers in gnomAD genomes">
##INFO=<ID=gnomad_genomes_hemi,Number=1,Type=Integer,Description="Number of hemi. alt. carriers in gnomAD genomes">
##INFO=<ID=gnomad_mtdna_an,Number=1,Type=Integer,Description="Number of alleles in gnomAD MT">
##INFO=<ID=gnomad_mtdna_hom,Number=1,Type=Integer,Description="Number of hom. alt. carriers in gnomAD MT">
##INFO=<ID=gnomad_mtdna_het,Number=1,Type=Integer,Description="Number of het. alt. carriers in gnomAD MT">
##INFO=<ID=gnomad_mtdna_hemi,Number=1,Type=Integer,Description="Number of hemi. alt. carriers in gnomAD MT">
##INFO=<ID=helix_an,Number=1,Type=Integer,Description="Number of alleles in HelixMtDb">
##INFO=<ID=helix_hom,Number=1,Type=Integer,Description="Number of hom. alt. carriers in HelixMtDb">
##INFO=<ID=helix_het,Number=1,Type=Integer,Description="Number of het. alt. carriers in HelixMtDb">
##INFO=<ID=ANN,Number=.,Type=String,Description="Functional annotations: 'Allele | Annotation | Annotation_Impact | Gene_Name | Gene_ID | Feature_Type | Feature_ID | Transcript_BioType | Rank | HGVS.c | HGVS.p | cDNA.pos / cDNA.length | CDS.pos / CDS.length | AA.pos / AA.length | Distance | Strand | ERRORS / WARNINGS / INFO'">
##FILTER=<ID=PASS,Description="All filters passed">
##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Read depth for each allele">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth">
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##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=PS,Number=1,Type=Integer,Description="Phase set">
##contig=<ID=1,length=249250621,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=2,length=243199373,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=3,length=198022430,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=4,length=191154276,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=5,length=180915260,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=6,length=171115067,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=7,length=159138663,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=8,length=146364022,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=9,length=141213431,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=10,length=135534747,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=11,length=135006516,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=12,length=133851895,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=13,length=115169878,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=14,length=107349540,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=15,length=102531392,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=16,length=90354753,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=17,length=81195210,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=18,length=78077248,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=19,length=59128983,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=20,length=63025520,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=21,length=48129895,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=22,length=51304566,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=X,length=155270560,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=Y,length=59373566,assembly="GRCh37",species="Homo sapiens">
##contig=<ID=MT,length=16569,assembly="GRCh37",species="Homo sapiens">
##fileDate=20230421
##SAMPLE=<ID=CASE,Sex="Male",Disease="Affected">
##PEDIGREE=<ID=CASE>
##x-varfish-case-uuid=00000000-0000-0000-0000-000000000000
##x-varfish-version=<ID=varfish-server-worker,Version="x.y.z">
##x-varfish-version=<ID=orig-caller,Name="Dragen",Version="SW: 07.021.624.3.10.9, HW: 07.021.624">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	CASE
17	41256074	.	CA	C	.	.	gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+64del|p.?|554/7088|441/5592||-64|-1|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64del|p.?|494/7028|300/5451||-64|-1|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+64del|p.?|460/3682|441/2280||-64|-1|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64del|p.?|548/3696|441/2100||-64|-1|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64del|p.?|554/7151|441/5655||-64|-1|	GT:AD:DP:GQ:PS	0|1:18,14:32:47:41256074
MT	750	.	A	G	.	.	clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found	GT:GQ:AD:DP	1/1:98:1,5607:5608