##fileformat=VCFv4.4 ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FILTER= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##fileDate=20230421 ##SAMPLE= ##SAMPLE= ##SAMPLE= ##PEDIGREE= ##PEDIGREE= ##PEDIGREE= ##x-varfish-case-uuid=00000000-0000-0000-0000-000000000000 ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 17 41249263 . G A . . gnomad_exomes_an=31398;gnomad_exomes_hom=0;gnomad_exomes_het=56;gnomad_genomes_an=251304;gnomad_genomes_hom=0;gnomad_genomes_het=369;clinvar_vcv=VCV000055642.108;clinvar_germline_classification=Benign;ANN=A|splice_region_variant&synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/23|c.591C>T|p.Cys197=|704/7088|591/5592|197/1864|0|-1|,A|splice_region_variant&synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/22|c.450C>T|p.Cys150=|644/7028|450/5451|150/1817|0|-1|,A|splice_region_variant&synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/22|c.591C>T|p.Cys197=|610/3682|591/2280|197/760|0|-1|,A|splice_region_variant&synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/22|c.591C>T|p.Cys197=|698/3696|591/2100|197/700|0|-1|,A|splice_region_variant&synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/24|c.591C>T|p.Cys197=|704/7151|591/5655|197/1885|0|-1| GT:AD:DP:GQ 0/0:52,0:52:99 0/0:46,0:46:99 0/1:21,21:42:99 17 41252332 . T C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-435A>G|p.?|555/7088|442/5592||435|-1|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-435A>G|p.?|495/7028|301/5451||435|-1|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-435A>G|p.?|461/3682|442/2280||435|-1|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-435A>G|p.?|549/3696|442/2100||435|-1|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-435A>G|p.?|555/7151|442/5655||435|-1| GT:AD:DP:GQ 0/0:25,0:25:75 0/1:14,14:28:99 0/1:19,21:40:99 17 41252691 . ATATAAT A . . ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-800_442-795del|p.?|555/7088|442/5592||795|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-795del|p.?|495/7028|301/5451||795|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-800_442-795del|p.?|461/3682|442/2280||795|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-795del|p.?|549/3696|442/2100||795|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-795del|p.?|555/7151|442/5655||795|-1| GT:AD:DP:GQ 0/0:9,0:9:27 0/1:4,10:14:99 0/1:12,11:23:99 17 41252693 . ATAAT A . . ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-800_442-797del|p.?|555/7088|442/5592||797|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-797del|p.?|495/7028|301/5451||797|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-800_442-797del|p.?|461/3682|442/2280||797|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-797del|p.?|549/3696|442/2100||797|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-797del|p.?|555/7151|442/5655||797|-1| GT:AD:DP:GQ 0/0:9,0:9:27 0/0:14,0:14:42 0/1:11,11:22:99 17 41252695 . AAT A . . ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-800_442-799del|p.?|555/7088|442/5592||799|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-799del|p.?|495/7028|301/5451||799|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-800_442-799del|p.?|461/3682|442/2280||799|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-799del|p.?|549/3696|442/2100||799|-1|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-799del|p.?|555/7151|442/5655||799|-1| GT:AD:DP:GQ 0/1:3,6:9:79 0/0:14,0:14:42 0/0:22,0:22:66 17 41252696 . A T . . ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-799T>A|p.?|555/7088|442/5592||799|-1|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-799T>A|p.?|495/7028|301/5451||799|-1|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-799T>A|p.?|461/3682|442/2280||799|-1|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-799T>A|p.?|549/3696|442/2100||799|-1|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-799T>A|p.?|555/7151|442/5655||799|-1| GT:AD:DP:GQ 0/1:6,3:9:78 0/1:10,4:14:98 0/0:22,0:22:67 17 41252697 . A AT . . ANN=AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-801_442-800insA|p.?|555/7088|442/5592||801|-1|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insA|p.?|495/7028|301/5451||801|-1|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-801_442-800insA|p.?|461/3682|442/2280||801|-1|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insA|p.?|549/3696|442/2100||801|-1|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insA|p.?|555/7151|442/5655||801|-1| GT:AD:DP:GQ 1/1:0,45:45:99 1/0:16,17:33:99 1/0:22,11:33:99 17 41252697 . A ATT . . ANN=ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-801_442-800insAA|p.?|555/7088|442/5592||801|-1|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insAA|p.?|495/7028|301/5451||801|-1|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-801_442-800insAA|p.?|461/3682|442/2280||801|-1|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insAA|p.?|549/3696|442/2100||801|-1|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insAA|p.?|555/7151|442/5655||801|-1| GT:AD:DP:GQ 0/0:45,0:45:99 0/1:17,16:33:99 0/1:12,21:33:99 17 41254393 . G T . . ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1746C>A|p.?|554/7088|441/5592||-1746|-1|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1746C>A|p.?|494/7028|300/5451||-1746|-1|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1746C>A|p.?|460/3682|441/2280||-1746|-1|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1746C>A|p.?|548/3696|441/2100||-1746|-1|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1746C>A|p.?|554/7151|441/5655||-1746|-1| GT:AD:DP:GQ 0/1:29,8:37:66 ./.:.:.:. 0/0:32,3:35:47 17 41273700 . C CA . . ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2333_80+2334insT|p.?|193/7088|80/5592||-2334|-1|,CA|5_prime_UTR_intron_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2333_-8+2334insT|p.?|187/7028|-8/5451||-2334|-1|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2333_80+2334insT|p.?|99/3682|80/2280||-2334|-1|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2333_80+2334insT|p.?|187/3696|80/2100||-2334|-1|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2333_80+2334insT|p.?|193/7151|80/5655||-2334|-1| GT:AD:DP:GQ 0/0:14,0:14:42 0/0:6,1:7:10 0/1:5,5:10:65 MT 73 . A G . . clinvar_vcv=VCV003066071.1;clinvar_germline_classification=Affects GT:AD:DP:GQ 0/0:3975,0:3975:99 1/1:0,2871:2871:99 1/1:0,3320:3320:99 MT 119 . T C . . . GT:AD:DP:GQ 0/0:5417,1:5418:99 1/1:0,4039:4039:99 1/1:1,4112:4113:99 MT 189 . A G . . . GT:AD:DP:GQ 0/0:3069,0:3069:99 1/1:0,1721:1721:99 1/1:0,2204:2204:99 MT 195 . T C . . . GT:AD:DP:GQ 0/0:2599,0:2599:99 1/1:0,1592:1592:99 1/1:0,1815:1815:99 MT 204 . T C . . . GT:AD:DP:GQ 0/0:2180,0:2180:99 1/1:0,1424:1424:99 1/1:0,1304:1304:99 MT 207 . G A . . . GT:AD:DP:GQ 0/0:2115,0:2115:99 1/1:0,1408:1408:99 1/1:0,1277:1277:99 MT 263 . A G . . clinvar_vcv=VCV000441147.1;clinvar_germline_classification=not provided GT:AD:DP:GQ 1/1:0,1288:1288:99 1/1:0,1204:1204:99 1/1:0,1031:1031:99 MT 302 . A ACC . . . GT:AD:DP:GQ 0/1:157,687:844:99 0/0:1005,6:1011:99 0/0:800,3:803:99 MT 310 . T TC . . . GT:AD:DP:GQ 1/1:0,1035:1035:99 1/1:0,1411:1411:99 1/1:1,1090:1091:99 MT 477 . T C . . . GT:AD:DP:GQ 1/1:4,2129:2133:99 0/0:2266,1:2267:99 0/0:1725,0:1725:99 MT 709 . G A . . . GT:AD:DP:GQ 0/0:2494,0:2494:99 1/1:0,2186:2186:99 1/1:1,1813:1814:99 MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:AD:DP:GQ 1/1:0,2757:2757:99 1/1:0,2392:2392:99 1/1:0,1621:1621:99 MT 879 . T C . . . GT:AD:DP:GQ 0/0:2853,0:2853:99 0/0:2784,0:2784:99 0/1:1351,547:1898:99 MT 1243 . T C . . clinvar_vcv=VCV000042212.5;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2674,1:2675:99 1/1:0,2198:2198:99 1/1:0,1655:1655:99 MT 1438 . A G . . clinvar_vcv=VCV000042220.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3815:3815:99 1/1:0,3653:3653:99 1/1:0,2900:2900:99 MT 1824 . T C . . . GT:AD:DP:GQ 1/1:0,2668:2668:99 0/0:2409,0:2409:99 0/0:1752,0:1752:99 MT 2633 . A G . . . GT:AD:DP:GQ 0/0:2535,0:2535:99 0/1:1648,761:2409:99 0/0:2269,0:2269:99 MT 2706 . A G . . . GT:AD:DP:GQ 0/0:3200,0:3200:99 1/1:0,2847:2847:99 1/1:0,2020:2020:99 MT 3010 . G A . . clinvar_vcv=VCV000441149.1;clinvar_germline_classification=not provided GT:AD:DP:GQ 1/1:0,2841:2841:99 0/0:2385,0:2385:99 0/0:1685,0:1685:99 MT 3505 . A G . . clinvar_vcv=VCV000252456.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2580,14:2594:99 1/1:0,2363:2363:99 1/1:0,1664:1664:99 MT 3784 . T C . . . GT:AD:DP:GQ 0/1:480,2456:2936:99 0/0:2504,0:2504:99 0/0:1991,0:1991:99 MT 4769 . A G . . clinvar_vcv=VCV000441150.2;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,2689:2689:99 1/1:0,2549:2549:99 1/1:0,2108:2108:99 MT 5046 . G A . . clinvar_vcv=VCV000692536.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2876,2:2878:99 1/1:0,2466:2466:99 1/1:0,1661:1661:99 MT 5460 . G A . . clinvar_vcv=VCV000692591.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2905,2:2907:99 1/1:0,2759:2759:99 1/1:2,1968:1970:99 MT 7028 . C T . . clinvar_vcv=VCV001676315.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2577,3:2580:99 1/1:2,2201:2203:99 1/1:1,1945:1946:99 MT 7864 . C T . . . GT:AD:DP:GQ 0/0:3588,1:3589:99 1/1:0,3465:3465:99 1/1:0,2746:2746:99 MT 8170 . A G . . . GT:AD:DP:GQ 0/0:2051,1:2052:99 1/1:0,2257:2257:99 1/1:0,1774:1774:99 MT 8251 . G A . . . GT:AD:DP:GQ 0/0:2360,0:2360:99 1/1:0,2317:2317:99 1/1:1,1624:1625:99 MT 8860 . A G . . clinvar_vcv=VCV000693004.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3278:3278:99 1/1:0,3088:3088:99 1/1:0,2241:2241:99 MT 8994 . G A . . . GT:AD:DP:GQ 0/0:2793,0:2793:99 1/1:0,2368:2368:99 1/1:1,1917:1918:99 MT 9007 . A G . . clinvar_vcv=VCV000693051.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,2959:2959:99 0/0:2442,0:2442:99 0/0:1735,0:1735:99 MT 9150 . A G . . . GT:AD:DP:GQ 1/1:0,3163:3163:99 0/0:3538,0:3538:99 0/0:2767,0:2767:99 MT 9380 . G A . . . GT:AD:DP:GQ 1/1:1,3320:3321:99 0/0:3222,0:3222:99 0/0:2547,0:2547:99 MT 10097 . A G . . . GT:AD:DP:GQ 0/0:2660,0:2660:99 0/1:1680,508:2188:99 0/0:1851,0:1851:99 MT 11204 . T C . . clinvar_vcv=VCV000693352.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3168,5:3173:99 1/1:0,2922:2922:99 1/1:0,2418:2418:99 MT 11674 . C T . . . GT:AD:DP:GQ 0/0:2890,0:2890:99 1/1:0,2666:2666:99 1/1:1,2179:2180:99 MT 11719 . G A . . clinvar_vcv=VCV003027424.1;clinvar_germline_classification=association GT:AD:DP:GQ 0/0:3339,2:3341:99 1/1:0,3052:3052:99 1/1:0,2203:2203:99 MT 11947 . A G . . . GT:AD:DP:GQ 0/0:2579,2:2581:99 1/1:0,2273:2273:99 1/1:0,1804:1804:99 MT 12414 . T C . . . GT:AD:DP:GQ 0/0:2852,3:2855:99 1/1:1,2545:2546:99 1/1:0,1733:1733:99 MT 12648 . A G . . . GT:AD:DP:GQ 0/0:1812,1:1813:99 1/1:2,1662:1664:99 1/1:4,1777:1781:99 MT 12705 . C T . . . GT:AD:DP:GQ 0/0:2359,10:2369:99 1/1:1,2137:2138:99 1/1:1,1621:1622:99 MT 13406 . G A . . clinvar_vcv=VCV000693552.1;clinvar_germline_classification=Uncertain significance GT:AD:DP:GQ 0/0:2539,1:2540:99 0/0:2216,0:2216:99 0/1:1224,733:1957:99 MT 13611 . A G . . . GT:AD:DP:GQ 0/0:3838,2:3840:99 1/1:0,3717:3717:99 1/1:1,2834:2835:99 MT 13928 . G C . . clinvar_vcv=VCV000693635.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2947,0:2947:99 1/1:0,2700:2700:99 1/1:0,1880:1880:99 MT 14148 . A G . . clinvar_vcv=VCV000235351.2;clinvar_germline_classification=Likely benign GT:AD:DP:GQ 0/0:3019,2:3021:99 1/1:0,2820:2820:99 1/1:0,1962:1962:99 MT 14766 . C T . . clinvar_vcv=VCV000140587.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3318,3:3321:99 1/1:2,3111:3113:99 1/1:3,2355:2358:99 MT 15326 . A G . . clinvar_vcv=VCV000140592.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3716:3716:99 1/1:0,3560:3560:99 1/1:0,2690:2690:99 MT 15884 . G C . . clinvar_vcv=VCV000252455.3;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3595,1:3596:99 1/1:0,3167:3167:99 1/1:1,2733:2734:99 MT 16184 . C T . . . GT:AD:DP:GQ 0/0:1406,1:1407:99 1/1:0,1969:1969:99 1/1:0,1478:1478:99 MT 16223 . C T . . clinvar_vcv=VCV003027423.1;clinvar_germline_classification=association not found GT:AD:DP:GQ 0/0:1405,1:1406:99 1/1:0,2018:2018:99 1/1:0,1472:1472:99 MT 16263 . T C . . . GT:AD:DP:GQ 1/1:2,1476:1478:99 0/0:1994,0:1994:99 0/0:1475,0:1475:99 MT 16292 . C T . . . GT:AD:DP:GQ 0/0:1652,0:1652:99 1/1:1,1913:1914:99 1/1:0,1476:1476:99 MT 16519 . T C . . . GT:AD:DP:GQ 1/1:0,1759:1759:99 1/1:0,4094:4094:99 1/1:0,1744:1744:99