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{"sheet":"Table S2","index":0,"n_rows":191,"n_cols":37,"rows_kept":191,"flags":["formulas_cached_only"]}
["Supplementary Table 2. Evidence table for rare (MAF < 0.5%) variants that were investigated for variant pathogenicity according to ACMG-AMP guidelines"]
[]
["Chromosome","Start coordinate","End coordinate","Reference allele","Alternate allele","Gene symbol","Exonic function","Amino acid change for all isoforms","PVS1","PS1","PS2","PS3","PS4","PM1","PM2","PM3","PM4","PM5","PM6","PP1","PP2","PP3","PP4","PP5","BA1","BS1","BS2","BS3","BS4","BP1","BP2","BP3","BP4","BP5","BP6","BP7","Evidence of pathogenicity"]
["chr1",156104245,156104245,"C","T","LMNA","nonsynonymous SNV","LMNA:NM_001257374:exon3:c.C229T:p.R77W,LMNA:NM_001282626:exon3:c.C565T:p.R189W,LMNA:NM_005572:exon3:c.C565T:p.R189W,LMNA:NM_170707:exon3:c.C565T:p.R189W,LMNA:NM_170708:exon3:c.C565T:p.R189W,LMNA:NM_001282624:exon4:c.C322T:p.R108W,LMNA:NM_001282625:exon6:c.C565T:p.R189W",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",17349159,17349159,"G","A","SDHB","nonsynonymous SNV","SDHB:NM_003000:exon7:c.C709T:p.P237S",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",201333463,201333463,"C","T","TNNT2","nonsynonymous SNV","TNNT2:NM_001001432:exon9:c.G407A:p.R136Q,TNNT2:NM_001001430:exon10:c.G422A:p.R141Q,TNNT2:NM_001001431:exon10:c.G422A:p.R141Q,TNNT2:NM_001276346:exon10:c.G332A:p.R111Q,TNNT2:NM_001276347:exon10:c.G422A:p.R141Q,TNNT2:NM_000364:exon11:c.G452A:p.R151Q,TNNT2:NM_001276345:exon11:c.G452A:p.R151Q",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",201333479,201333479,"C","T","TNNT2","nonsynonymous SNV","TNNT2:NM_001001432:exon9:c.G391A:p.E131K,TNNT2:NM_001001430:exon10:c.G406A:p.E136K,TNNT2:NM_001001431:exon10:c.G406A:p.E136K,TNNT2:NM_001276346:exon10:c.G316A:p.E106K,TNNT2:NM_001276347:exon10:c.G406A:p.E136K,TNNT2:NM_000364:exon11:c.G436A:p.E146K,TNNT2:NM_001276345:exon11:c.G436A:p.E146K",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",237608747,237608747,"C","T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon14:c.C1217T:p.S406L",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr1",237729972,237729972,"C","T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon28:c.C3320T:p.T1107M",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr1",237753260,237753260,"C","A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon30:c.C3766A:p.P1256T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",237765380,237765380,"A","G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon35:c.A4652G:p.N1551S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",237777856,237777856,"G","C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon37:c.G5428C:p.V1810L",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",237948187,237948187,"A","G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon90:c.A13175G:p.K4392R",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",237955507,237955507,"G","A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon94:c.G13666A:p.A4556T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",45797760,45797760,"T","C","MUTYH","splicing","NM_001048173:exon11:c.850-2A>G,NM_001293190:exon11:c.895-2A>G,NM_001048171:exon11:c.892-2A>G,NM_001128425:exon11:c.934-2A>G,NM_001048172:exon11:c.853-2A>G,NM_001048174:exon11:c.850-2A>G,NM_012222:exon11:c.925-2A>G,NM_001293196:exon11:c.574-2A>G,NM_001293195:exon12:c.850-2A>G,NM_001293192:exon11:c.574-2A>G,NM_001293191:exon11:c.883-2A>G",1,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",0,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",55505520,55505520,"G","A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon1:c.G10A:p.V4I",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,1,"NA",0,0,"VUS"]
["chr1",55505604,55505604,"G","A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon1:c.G94A:p.E32K",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",55518082,55518082,"C","G","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon4:c.C655G:p.Q219E",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",55518452,55518452,"G","A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon5:c.G787A:p.G263S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,1,"NA",0,0,"VUS"]
["chr1",55525195,55525195,"G","A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon10:c.G1540A:p.A514T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",55529048,55529048,"G","A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon12:c.G1870A:p.V624M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",55529182,55529182,"C","A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon12:c.C2004A:p.S668R",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,1,"NA",0,0,"VUS"]
["chr10",90699324,90699324,"T","G","ACTA2","nonsynonymous SNV","ACTA2:NM_001141945:exon7:c.A748C:p.I250L,ACTA2:NM_001613:exon7:c.A748C:p.I250L",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",0,"NA",0,0,0,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr11",2790114,2790114,"C","T","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon12:c.C1555T:p.R519C,KCNQ1:NM_181798:exon12:c.C1174T:p.R392C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr11",2790115,2790115,"G","A","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon12:c.G1556A:p.R519H,KCNQ1:NM_181798:exon12:c.G1175A:p.R392H",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr11",2869063,2869063,"G","A","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon16:c.G1861A:p.G621S,KCNQ1:NM_181798:exon16:c.G1480A:p.G494S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,1,"NA",0,0,"VUS"]
["chr11",47354443,47354443,"G","A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon30:c.C3412T:p.R1138C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr11",47355161,47355161,"G","A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon28:c.C3137T:p.T1046M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",1,0,"NA",0,0,"VUS"]
["chr11",47355294,47355294,"G","A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon28:c.C3004T:p.R1002W",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",1,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr11",47359040,47359040,"C","A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon24:c.G2504T:p.R835L",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr11",47360114,47360114,"G","T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon22:c.C2265A:p.N755K",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr11",47360182,47360182,"G","A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon22:c.C2197T:p.R733C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr11",47361266,47361266,"C","T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon20:c.G2003A:p.R668H",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr11",47364234,47364234,"C","T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon16:c.G1519A:p.G507R",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",1,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr11",47369442,47369442,"C","T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon7:c.G787A:p.G263R",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr11",47371336,47371336,"G","A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon5:c.C643T:p.R215C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr12",32955486,32955486,"G","A","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon10:c.C2018T:p.P673L,PKP2:NM_004572:exon11:c.C2150T:p.P717L",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA","NA",0,"NA",0,0,1,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr12",32994073,32994073,"G","A","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon6:c.C1445T:p.T482M,PKP2:NM_004572:exon7:c.C1577T:p.T526M",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA","NA",0,"NA",0,0,0,"NA",0,"NA","NA","NA",0,0,"NA",1,0,"VUS"]
["chr12",33021869,33021869,"G","A","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon4:c.C1162T:p.R388W,PKP2:NM_004572:exon4:c.C1162T:p.R388W",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",0,"NA",1,0,0,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr12",33030861,33030861,"T","G","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon3:c.A953C:p.H318P,PKP2:NM_004572:exon3:c.A953C:p.H318P",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA","NA",0,"NA",0,0,1,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr13",32890650,32890650,"G","A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon2:c.G53A:p.R18H",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr13",32903579,32903579,"G","T","BRCA2","splicing","NM_000059:exon8:c.632-1G>T",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr13",32906579,32906579,"A","C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A964C:p.K322Q",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr13",32907183,32907183,"A","G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A1568G:p.H523R",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr13",32907359,32907359,"A","C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A1744C:p.T582P",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"LB"]
["chr13",32914082,32914082,"G","A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G5590A:p.D1864N",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr13",32914623,32914623,"G","T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G6131T:p.G2044V",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr13",32914817,32914817,"G","A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G6325A:p.V2109I",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,1,"NA",1,0,"LB"]
["chr13",32914988,32914988,"G","T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G6496T:p.V2166L",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,1,"NA",0,0,"VUS"]
["chr13",32929042,32929042,"C","G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon14:c.C7052G:p.A2351G",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"LB"]
["chr13",32930609,32930609,"C","T","BRCA2","stopgain","BRCA2:NM_000059:exon15:c.C7480T:p.R2494X",1,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",0,1,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr13",32930651,32930651,"G","A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon15:c.G7522A:p.G2508S",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr13",32937362,32937362,"A","G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon18:c.A8023G:p.I2675V",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",0,1,"NA",1,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr13",32968844,32968844,"A","G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon25:c.A9275G:p.Y3092C",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr13",49030386,49030386,"C","A","RB1","nonsynonymous SNV","RB1:NM_000321:exon19:c.C1861A:p.R621S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr13",49039470,49039470,"C","G","RB1","nonsynonymous SNV","RB1:NM_000321:exon23:c.C2455G:p.L819V",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,1,"NA",0,0,"VUS"]
["chr14",23883054,23883054,"C","G","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon39:c.G5704C:p.E1902Q",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr14",23884924,23884924,"C","T","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon35:c.G5071A:p.V1691M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr14",23885225,23885225,"C","G","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon34:c.G4941C:p.Q1647H",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr14",23887458,23887458,"G","A","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon30:c.C4130T:p.T1377M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr14",23888715,23888715,"C","T","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon28:c.G3830A:p.R1277Q",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr14",23891500,23891500,"C","T","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon25:c.G3134A:p.R1045H",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr15",48718025,48718025,"C","T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon59:c.G7241A:p.R2414Q",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr15",48782087,48782087,"C","T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon25:c.G3043A:p.A1015T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr15",48829846,48829846,"C","T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon7:c.G698A:p.R233H",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr15",63335092,63335092,"G","A","TPM1","nonsynonymous SNV","TPM1:NM_000366:exon1:c.G64A:p.A22T,TPM1:NM_001018004:exon1:c.G64A:p.A22T,TPM1:NM_001018005:exon1:c.G64A:p.A22T,TPM1:NM_001018006:exon1:c.G64A:p.A22T,TPM1:NM_001018007:exon1:c.G64A:p.A22T,TPM1:NM_001018020:exon1:c.G64A:p.A22T,TPM1:NM_001301244:exon1:c.G64A:p.A22T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr16",15814883,15814883,"C","T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon33:c.G4604A:p.R1535Q,MYH11:NM_022844:exon33:c.G4604A:p.R1535Q,MYH11:NM_001040113:exon34:c.G4625A:p.R1542Q,MYH11:NM_001040114:exon34:c.G4625A:p.R1542Q",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA","NA",1,"NA",0,0,1,"NA",0,"NA","NA","NA",0,0,"NA",1,0,"VUS"]
["chr16",2105507,2105507,"G","A","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon6:c.G586A:p.A196T,TSC2:NM_001077183:exon6:c.G586A:p.A196T,TSC2:NM_001114382:exon6:c.G586A:p.A196T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr16",2121610,2121610,"G","A","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon18:c.G1939A:p.D647N,TSC2:NM_001077183:exon18:c.G1939A:p.D647N,TSC2:NM_001114382:exon18:c.G1939A:p.D647N",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr16",2133801,2133801,"C","T","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon31:c.C3788T:p.T1263M,TSC2:NM_001114382:exon32:c.C3920T:p.T1307M,TSC2:NM_000548:exon33:c.C3989T:p.T1330M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr17",41223202,41223202,"A","G","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon14:c.T4588C:p.S1530P,BRCA1:NM_007298:exon14:c.T1417C:p.S473P,BRCA1:NM_007294:exon15:c.T4729C:p.S1577P,BRCA1:NM_007299:exon15:c.T1417C:p.S473P,BRCA1:NM_007300:exon16:c.T4792C:p.S1598P",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr17",41243809,41243809,"C","T","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.G3598A:p.V1200I,BRCA1:NM_007294:exon10:c.G3739A:p.V1247I,BRCA1:NM_007300:exon10:c.G3739A:p.V1247I",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,1,"NA",1,0,"VUS"]
["chr17",41244100,41244100,"G","A","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.C3307T:p.P1103S,BRCA1:NM_007294:exon10:c.C3448T:p.P1150S,BRCA1:NM_007300:exon10:c.C3448T:p.P1150S",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",0,1,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr17",41245262,41245262,"T","A","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.A2145T:p.R715S,BRCA1:NM_007294:exon10:c.A2286T:p.R762S,BRCA1:NM_007300:exon10:c.A2286T:p.R762S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr17",41245683,41245683,"G","A","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.C1724T:p.A575V,BRCA1:NM_007294:exon10:c.C1865T:p.A622V,BRCA1:NM_007300:exon10:c.C1865T:p.A622V",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr17",41246724,41246724,"C","T","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.G683A:p.G228D,BRCA1:NM_007294:exon10:c.G824A:p.G275D,BRCA1:NM_007300:exon10:c.G824A:p.G275D",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr17",41246737,41246737,"C","T","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.G670A:p.V224M,BRCA1:NM_007294:exon10:c.G811A:p.V271M,BRCA1:NM_007300:exon10:c.G811A:p.V271M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr17",41256280,41256280,"T","G","BRCA1","splicing","NM_007297:exon5:c.161-2A>C,NM_007300:exon6:c.302-2A>C,NM_007299:exon6:c.302-2A>C,NM_007298:exon5:c.302-2A>C,NM_007294:exon6:c.302-2A>C",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr17",41258531,41258531,"G","A","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon3:c.C13T:p.L5F,BRCA1:NM_007298:exon3:c.C154T:p.L52F,BRCA1:NM_007294:exon4:c.C154T:p.L52F,BRCA1:NM_007299:exon4:c.C154T:p.L52F,BRCA1:NM_007300:exon4:c.C154T:p.L52F",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr17",7579882,7579882,"C","G","TP53","nonsynonymous SNV","TP53:NM_000546:exon2:c.G31C:p.E11Q,TP53:NM_001126112:exon2:c.G31C:p.E11Q,TP53:NM_001126113:exon2:c.G31C:p.E11Q,TP53:NM_001126114:exon2:c.G31C:p.E11Q",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr18",29099850,29099850,"G","A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon3:c.G166A:p.V56M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",0,"NA",0,0,0,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr18",29102115,29102115,"A","G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon6:c.A593G:p.Y198C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",0,"NA",0,0,0,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr18",29116222,29116222,"A","C","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon11:c.A1481C:p.D494A",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",1,"NA",1,0,1,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr18",29116333,29116333,"T","G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon11:c.T1592G:p.F531C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",1,"NA",1,0,0,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr18",29125819,29125819,"C","T","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon15:c.C2470T:p.R824C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",0,"NA",0,0,1,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"VUS"]
["chr19",11213441,11213441,"G","A","LDLR","nonsynonymous SNV","LDLR:NM_000527:exon3:c.G292A:p.G98S,LDLR:NM_001195798:exon3:c.G292A:p.G98S,LDLR:NM_001195800:exon3:c.G292A:p.G98S,LDLR:NM_001195803:exon3:c.G292A:p.G98S",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",1,0,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr19",11215926,11215926,"G","A","LDLR","nonsynonymous SNV","LDLR:NM_001195799:exon3:c.G221A:p.R74H,LDLR:NM_000527:exon4:c.G344A:p.R115H,LDLR:NM_001195798:exon4:c.G344A:p.R115H",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",1,0,"NA",1,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",11217315,11217315,"C","T","LDLR","nonsynonymous SNV","LDLR:NM_001195799:exon4:c.C646T:p.R216W,LDLR:NM_001195803:exon4:c.C388T:p.R130W,LDLR:NM_000527:exon5:c.C769T:p.R257W,LDLR:NM_001195798:exon5:c.C769T:p.R257W",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr19",11222192,11222192,"A","G","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon6:c.A559G:p.I187V,LDLR:NM_001195799:exon7:c.A940G:p.I314V,LDLR:NM_001195803:exon7:c.A682G:p.I228V,LDLR:NM_000527:exon8:c.A1063G:p.I355V,LDLR:NM_001195798:exon8:c.A1063G:p.I355V",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr19",11224368,11224368,"G","A","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon8:c.G1012A:p.V338M,LDLR:NM_001195799:exon9:c.G1393A:p.V465M,LDLR:NM_001195803:exon9:c.G1135A:p.V379M,LDLR:NM_000527:exon10:c.G1516A:p.V506M,LDLR:NM_001195798:exon10:c.G1516A:p.V506M",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr19",11224398,11224398,"G","A","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon8:c.G1042A:p.G348S,LDLR:NM_001195799:exon9:c.G1423A:p.G475S,LDLR:NM_001195803:exon9:c.G1165A:p.G389S,LDLR:NM_000527:exon10:c.G1546A:p.G516S,LDLR:NM_001195798:exon10:c.G1546A:p.G516S",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr19",11227576,11227576,"C","T","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon10:c.C1243T:p.H415Y,LDLR:NM_001195799:exon11:c.C1624T:p.H542Y,LDLR:NM_001195803:exon11:c.C1366T:p.H456Y,LDLR:NM_000527:exon12:c.C1747T:p.H583Y,LDLR:NM_001195798:exon12:c.C1747T:p.H583Y",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
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["chr19",11241988,11241988,"C","T","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon16:c.C2075T:p.A692V,LDLR:NM_001195803:exon16:c.C2045T:p.A682V,LDLR:NM_001195799:exon17:c.C2456T:p.A819V,LDLR:NM_000527:exon18:c.C2579T:p.A860V,LDLR:NM_001195798:exon18:c.C2573T:p.A858V",0,0,"NA",0,"NA",1,0,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",1220473,1220473,"C","T","STK11","nonsynonymous SNV","STK11:NM_000455:exon4:c.C566T:p.T189I",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr19",1226620,1226620,"C","T","STK11","nonsynonymous SNV","STK11:NM_000455:exon9:c.C1276T:p.R426W",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr19",38949905,38949905,"G","A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon19:c.G2287A:p.V763M,RYR1:NM_001042723:exon19:c.G2287A:p.V763M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",38959759,38959759,"C","T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon26:c.C3535T:p.R1179W,RYR1:NM_001042723:exon26:c.C3535T:p.R1179W",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",38980770,38980770,"T","A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon36:c.T5869A:p.S1957T,RYR1:NM_001042723:exon36:c.T5869A:p.S1957T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",38991503,38991503,"C","T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon47:c.C7487T:p.P2496L,RYR1:NM_001042723:exon47:c.C7487T:p.P2496L",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
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["chr19",39062846,39062846,"G","A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon94:c.G13919A:p.R4640Q,RYR1:NM_000540:exon95:c.G13934A:p.R4645Q",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",39070680,39070680,"T","A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon99:c.T14408A:p.F4803Y,RYR1:NM_000540:exon100:c.T14423A:p.F4808Y",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr2",189873900,189873900,"C","T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon48:c.C3776T:p.A1259V",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr2",21228437,21228437,"A","G","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.T11303C:p.I3768T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr2",21234674,21234674,"C","T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G5066A:p.R1689H",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr2",47630344,47630344,"C","A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon1:c.C14A:p.P5Q",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr2",47630448,47630448,"G","A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon1:c.G118A:p.G40S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
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["chr2",47703564,47703564,"G","A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon13:c.G2064A:p.M688I,MSH2:NM_001258281:exon14:c.G1866A:p.M622I",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr2",47703703,47703703,"A","G","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon13:c.A2203G:p.I735V,MSH2:NM_001258281:exon14:c.A2005G:p.I669V",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr2",47710068,47710068,"C","T","MSH2","stopgain","MSH2:NM_000251:exon16:c.C2785T:p.R929X,MSH2:NM_001258281:exon17:c.C2587T:p.R863X",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr2",48026185,48026185,"G","A","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.G673A:p.G225S,MSH6:NM_001281493:exon3:c.G157A:p.G53S,MSH6:NM_000179:exon4:c.G1063A:p.G355S,MSH6:NM_001281494:exon4:c.G157A:p.G53S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr2",48026851,48026851,"C","T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.C1339T:p.R447C,MSH6:NM_001281493:exon3:c.C823T:p.R275C,MSH6:NM_000179:exon4:c.C1729T:p.R577C,MSH6:NM_001281494:exon4:c.C823T:p.R275C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr2",48027683,48027683,"A","T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.A2171T:p.K724M,MSH6:NM_001281493:exon3:c.A1655T:p.K552M,MSH6:NM_000179:exon4:c.A2561T:p.K854M,MSH6:NM_001281494:exon4:c.A1655T:p.K552M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr2",48030612,48030612,"C","T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon3:c.C2836T:p.R946C,MSH6:NM_001281493:exon4:c.C2320T:p.R774C,MSH6:NM_000179:exon5:c.C3226T:p.R1076C,MSH6:NM_001281494:exon5:c.C2320T:p.R774C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",1,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr3",10188273,10188273,"C","T","VHL","nonsynonymous SNV","VHL:NM_000551:exon2:c.C416T:p.S139F",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr3",14172430,14172430,"A","G","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon3:c.A271G:p.I91V",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",0,"NA",0,0,1,"NA",0,"NA","NA","NA",0,1,"NA",0,0,"VUS"]
["chr3",30713292,30713292,"C","T","TGFBR2","nonsynonymous SNV","TGFBR2:NM_003242:exon4:c.C617T:p.T206M,TGFBR2:NM_001024847:exon5:c.C692T:p.T231M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr3",37035112,37035112,"T","C","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon1:c.T74C:p.I25T,MLH1:NM_001258271:exon1:c.T74C:p.I25T",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr3",37053562,37053562,"C","T","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon8:c.C649T:p.R217C,MLH1:NM_001167617:exon8:c.C355T:p.R119C,MLH1:NM_001258271:exon8:c.C649T:p.R217C",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",0,1,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr3",37067242,37067242,"C","T","MLH1","nonsynonymous SNV","MLH1:NM_001167619:exon11:c.C430T:p.R144C,MLH1:NM_001258273:exon11:c.C430T:p.R144C,MLH1:NM_000249:exon12:c.C1153T:p.R385C,MLH1:NM_001167617:exon12:c.C859T:p.R287C,MLH1:NM_001167618:exon12:c.C430T:p.R144C,MLH1:NM_001258271:exon12:c.C1153T:p.R385C,MLH1:NM_001258274:exon13:c.C430T:p.R144C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",1,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr3",37090048,37090048,"A","G","MLH1","nonsynonymous SNV","MLH1:NM_001167619:exon16:c.A1214G:p.Y405C,MLH1:NM_001258273:exon16:c.A1214G:p.Y405C,MLH1:NM_000249:exon17:c.A1937G:p.Y646C,MLH1:NM_001167617:exon17:c.A1643G:p.Y548C,MLH1:NM_001167618:exon17:c.A1214G:p.Y405C,MLH1:NM_001258274:exon18:c.A1214G:p.Y405C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr3",38591900,38591900,"A","C","SCN5A","nonsynonymous SNV","SCN5A:NM_001099405:exon27:c.T5909G:p.L1970R,SCN5A:NM_001160161:exon27:c.T5801G:p.L1934R,SCN5A:NM_000335:exon28:c.T5960G:p.L1987R,SCN5A:NM_001099404:exon28:c.T5963G:p.L1988R,SCN5A:NM_001160160:exon28:c.T5864G:p.L1955R,SCN5A:NM_198056:exon28:c.T5963G:p.L1988R",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr3",38592033,38592033,"G","A","SCN5A","stopgain","SCN5A:NM_001099405:exon27:c.C5776T:p.R1926X,SCN5A:NM_001160161:exon27:c.C5668T:p.R1890X,SCN5A:NM_000335:exon28:c.C5827T:p.R1943X,SCN5A:NM_001099404:exon28:c.C5830T:p.R1944X,SCN5A:NM_001160160:exon28:c.C5731T:p.R1911X,SCN5A:NM_198056:exon28:c.C5830T:p.R1944X",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr3",38592051,38592051,"C","T","SCN5A","nonsynonymous SNV","SCN5A:NM_001099405:exon27:c.G5758A:p.E1920K,SCN5A:NM_001160161:exon27:c.G5650A:p.E1884K,SCN5A:NM_000335:exon28:c.G5809A:p.E1937K,SCN5A:NM_001099404:exon28:c.G5812A:p.E1938K,SCN5A:NM_001160160:exon28:c.G5713A:p.E1905K,SCN5A:NM_198056:exon28:c.G5812A:p.E1938K",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr3",38592968,38592968,"C","T","SCN5A","nonsynonymous SNV","SCN5A:NM_001099405:exon27:c.G4841A:p.R1614H,SCN5A:NM_001160161:exon27:c.G4733A:p.R1578H,SCN5A:NM_000335:exon28:c.G4892A:p.R1631H,SCN5A:NM_001099404:exon28:c.G4895A:p.R1632H,SCN5A:NM_001160160:exon28:c.G4796A:p.R1599H,SCN5A:NM_198056:exon28:c.G4895A:p.R1632H",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr3",38595804,38595804,"G","C","SCN5A","nonsynonymous SNV","SCN5A:NM_001099405:exon26:c.C4725G:p.I1575M,SCN5A:NM_001160161:exon26:c.C4617G:p.I1539M,SCN5A:NM_000335:exon27:c.C4776G:p.I1592M,SCN5A:NM_001099404:exon27:c.C4779G:p.I1593M,SCN5A:NM_198056:exon27:c.C4779G:p.I1593M",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr3",38607905,38607905,"C","T","SCN5A","nonsynonymous SNV","SCN5A:NM_001160161:exon20:c.G3673A:p.V1225I,SCN5A:NM_000335:exon21:c.G3832A:p.V1278I,SCN5A:NM_001099404:exon21:c.G3835A:p.V1279I,SCN5A:NM_001099405:exon21:c.G3835A:p.V1279I,SCN5A:NM_001160160:exon21:c.G3832A:p.V1278I,SCN5A:NM_198056:exon21:c.G3835A:p.V1279I",0,0,"NA",0,"NA",0,1,"NA",0,1,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr3",38618271,38618271,"G","A","SCN5A","nonsynonymous SNV","SCN5A:NM_001160161:exon18:c.C3230T:p.T1077I,SCN5A:NM_000335:exon19:c.C3389T:p.T1130I,SCN5A:NM_001099404:exon19:c.C3392T:p.T1131I,SCN5A:NM_001099405:exon19:c.C3392T:p.T1131I,SCN5A:NM_001160160:exon19:c.C3389T:p.T1130I,SCN5A:NM_198056:exon19:c.C3392T:p.T1131I",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,1,"NA",0,0,"VUS"]
["chr3",38639416,38639416,"C","T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon14:c.G2066A:p.R689H,SCN5A:NM_001099404:exon14:c.G2066A:p.R689H,SCN5A:NM_001099405:exon14:c.G2066A:p.R689H,SCN5A:NM_001160160:exon14:c.G2066A:p.R689H,SCN5A:NM_001160161:exon14:c.G2066A:p.R689H,SCN5A:NM_198056:exon14:c.G2066A:p.R689H",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr3",38640489,38640489,"G","A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon13:c.C1943T:p.P648L,SCN5A:NM_001099404:exon13:c.C1943T:p.P648L,SCN5A:NM_001099405:exon13:c.C1943T:p.P648L,SCN5A:NM_001160160:exon13:c.C1943T:p.P648L,SCN5A:NM_001160161:exon13:c.C1943T:p.P648L,SCN5A:NM_198056:exon13:c.C1943T:p.P648L",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr3",38645498,38645498,"A","C","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon12:c.T1595G:p.F532C,SCN5A:NM_001099404:exon12:c.T1595G:p.F532C,SCN5A:NM_001099405:exon12:c.T1595G:p.F532C,SCN5A:NM_001160160:exon12:c.T1595G:p.F532C,SCN5A:NM_001160161:exon12:c.T1595G:p.F532C,SCN5A:NM_198056:exon12:c.T1595G:p.F532C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",1,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr3",38648281,38648281,"C","T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon9:c.G1019A:p.R340Q,SCN5A:NM_001099404:exon9:c.G1019A:p.R340Q,SCN5A:NM_001099405:exon9:c.G1019A:p.R340Q,SCN5A:NM_001160160:exon9:c.G1019A:p.R340Q,SCN5A:NM_001160161:exon9:c.G1019A:p.R340Q,SCN5A:NM_198056:exon9:c.G1019A:p.R340Q",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr3",38651267,38651267,"C","T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon7:c.G892A:p.G298S,SCN5A:NM_001099404:exon7:c.G892A:p.G298S,SCN5A:NM_001099405:exon7:c.G892A:p.G298S,SCN5A:NM_001160160:exon7:c.G892A:p.G298S,SCN5A:NM_001160161:exon7:c.G892A:p.G298S,SCN5A:NM_198056:exon7:c.G892A:p.G298S",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr3",38651285,38651285,"C","T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon7:c.G874A:p.G292S,SCN5A:NM_001099404:exon7:c.G874A:p.G292S,SCN5A:NM_001099405:exon7:c.G874A:p.G292S,SCN5A:NM_001160160:exon7:c.G874A:p.G292S,SCN5A:NM_001160161:exon7:c.G874A:p.G292S,SCN5A:NM_198056:exon7:c.G874A:p.G292S",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr3",46902303,46902303,"G","C","MYL3","nonsynonymous SNV","MYL3:NM_000258:exon3:c.C170G:p.A57G",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA","NA",0,"NA",1,0,0,"NA",0,"NA","NA","NA",0,0,"NA",0,0,"LP"]
["chr5",112151233,112151233,"G","C","APC","nonsynonymous SNV","APC:NM_001127511:exon7:c.G822C:p.L274F,APC:NM_000038:exon9:c.G876C:p.L292F,APC:NM_001127510:exon10:c.G876C:p.L292F",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr5",112174669,112174669,"C","G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C3324G:p.S1108R,APC:NM_000038:exon16:c.C3378G:p.S1126R,APC:NM_001127510:exon17:c.C3378G:p.S1126R",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr5",112175346,112175346,"T","C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T4001C:p.V1334A,APC:NM_000038:exon16:c.T4055C:p.V1352A,APC:NM_001127510:exon17:c.T4055C:p.V1352A",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,1,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr5",112177203,112177203,"C","G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C5858G:p.S1953C,APC:NM_000038:exon16:c.C5912G:p.S1971C,APC:NM_001127510:exon17:c.C5912G:p.S1971C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr5",112178256,112178256,"A","G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A6911G:p.Q2304R,APC:NM_000038:exon16:c.A6965G:p.Q2322R,APC:NM_001127510:exon17:c.A6965G:p.Q2322R",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",0,0,"VUS"]
["chr5",112179623,112179623,"G","T","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G8278T:p.A2760S,APC:NM_000038:exon16:c.G8332T:p.A2778S,APC:NM_001127510:exon17:c.G8332T:p.A2778S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",1,"NA",0,0,"NA",1,0,"VUS"]
["chr6",7574952,7574952,"A","G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon17:c.A2360G:p.Y787C,DSP:NM_004415:exon17:c.A2360G:p.Y787C",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr6",7580466,7580466,"T","G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.T4043G:p.L1348R",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr6",7581164,7581164,"A","G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.A4741G:p.K1581E",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr6",7581641,7581641,"G","A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G5218A:p.E1740K",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr6",7585950,7585950,"A","C","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A6658C:p.M2220L,DSP:NM_004415:exon24:c.A8455C:p.M2819L",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",1,0,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",1,0,"VUS"]
["chr7",150644799,150644799,"G","A","KCNH2","nonsynonymous SNV","KCNH2:NM_172057:exon8:c.C1840T:p.R614C,KCNH2:NM_000238:exon12:c.C2860T:p.R954C",0,0,"NA",1,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",1,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"LP"]
["chr7",150656686,150656686,"C","G","KCNH2","nonsynonymous SNV","KCNH2:NM_000238:exon3:c.G446C:p.G149A,KCNH2:NM_172056:exon3:c.G446C:p.G149A",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",1,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr9",135772927,135772927,"G","C","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon20:c.C2543G:p.T848S,TSC1:NM_000368:exon21:c.C2696G:p.T899S,TSC1:NM_001162426:exon21:c.C2693G:p.T898S",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA","NA",0,"NA",0,0,1,"NA",0,"NA","NA","NA",0,1,"NA",1,0,"VUS"]
["chr9",135785971,135785971,"G","A","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon11:c.C1097T:p.T366I,TSC1:NM_000368:exon12:c.C1250T:p.T417I,TSC1:NM_001162426:exon12:c.C1247T:p.T416I",0,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA","NA",0,"NA",0,0,1,"NA",0,"NA","NA","NA",0,1,"NA",0,0,"LB"]
["chr1",55529225,55529225,"-","A","PCSK9","frameshift insertion","PCSK9:NM_174936:exon12:c.2048dupA:p.H683fs",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,"NA","NA",0,0,0,"NA",0,"NA",0,"NA",0,"NA","NA",0,0,"VUS"]
["chr1",201047146,201047154,"ACATGAAGT","-","CACNA1S","nonframeshift deletion","CACNA1S:NM_000069:exon11:c.1472_1480del:p.491_494del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr1",237821305,237821305,"A","-","RYR2","frameshift deletion","RYR2:NM_001035:exon54:c.8191delA:p.K2731fs",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr2",21230746,21230746,"-","C","APOB","frameshift insertion","APOB:NM_000384:exon26:c.8993dupG:p.G2998fs",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr2",21233012,21233014,"CTT","-","APOB","nonframeshift deletion","APOB:NM_000384:exon26:c.6726_6728del:p.2242_2243del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr2",47635601,47635603,"TCT","-","MSH2","nonframeshift deletion","MSH2:NM_000251:exon2:c.273_275del:p.91_92del,MSH2:NM_001258281:exon3:c.75_77del:p.25_26del",0,0,"NA",0,"NA",0,0,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr2",47656934,47656936,"AAG","-","MSH2","nonframeshift deletion","MSH2:NM_000251:exon7:c.1130_1132del:p.377_378del,MSH2:NM_001258281:exon8:c.932_934del:p.311_312del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr2",48033792,48033795,"TAAC","-","MSH6","splicing","NM_000257:exon27:c.3096+2TAAC>-",1,0,"NA",0,"NA",0,0,"NA",0,0,"NA","NA",0,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr3",37067124,37067129,"ACAGAC","-","MLH1","frameshift deletion","MLH1:NM_001167619:exon11:c.316_317del:p.T106fs,MLH1:NM_001258273:exon11:c.316_317del:p.T106fs,MLH1:NM_000249:exon12:c.1039_1040del:p.T347fs,MLH1:NM_001167617:exon12:c.745_746del:p.T249fs,MLH1:NM_001167618:exon12:c.316_317del:p.T106fs,MLH1:NM_001258271:exon12:c.1039_1040del:p.T347fs,MLH1:NM_001258274:exon13:c.316_317del:p.T106fs",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr3",46904880,46904880,"T","-","MYL3","frameshift deletion","MYL3:NM_000258:exon1:c.1delA:p.M1fs",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr3",123419184,123419219,"GCAGGCTTGGCGTTGCCCATTGGCTTCAGGGTCTCA","-","MYLK","nonframeshift deletion","MYLK:NM_053026:exon17:c.2889_2924del:p.963_975del,MYLK:NM_053028:exon17:c.2889_2924del:p.963_975del,MYLK:NM_053025:exon18:c.3096_3131del:p.1032_1044del,MYLK:NM_053027:exon18:c.3096_3131del:p.1032_1044del",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",1,0,"NA",0,0,"VUS"]
["chr5",112174736,112174738,"GAA","-","APC","nonframeshift deletion","APC:NM_001127511:exon14:c.3391_3393del:p.1131_1131del,APC:NM_000038:exon16:c.3445_3447del:p.1149_1149del,APC:NM_001127510:exon17:c.3445_3447del:p.1149_1149del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr5",112179199,112179201,"TGG","-","APC","nonframeshift deletion","APC:NM_001127511:exon14:c.7854_7856del:p.2618_2619del,APC:NM_000038:exon16:c.7908_7910del:p.2636_2637del,APC:NM_001127510:exon17:c.7908_7910del:p.2636_2637del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr6",7581299,7581301,"AAG","-","DSP","nonframeshift deletion","DSP:NM_004415:exon23:c.4876_4878del:p.1626_1626del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr6",7585963,7585986,"CGGGGTCCCGCTCCGGCTCCCGCT","-","DSP","nonframeshift deletion","DSP:NM_001008844:exon24:c.6671_6694del:p.2224_2232del,DSP:NM_004415:exon24:c.8468_8491del:p.2823_2831del",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",1,0,"NA",0,0,"VUS"]
["chr9",101867538,101867549,"GGCGGCGGCGGC","-","TGFBR1","nonframeshift deletion","TGFBR1:NM_001130916:exon1:c.51_62del:p.17_21del,TGFBR1:NM_001306210:exon1:c.51_62del:p.17_21del,TGFBR1:NM_004612:exon1:c.51_62del:p.17_21del",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",1,0,"NA",0,0,"VUS"]
["chr10",43572749,43572749,"-","TGCTGCTGC","RET","nonframeshift insertion","RET:NM_020630:exon1:c.43_44insTGCTGCTGC:p.L15delinsLLLL,RET:NM_020975:exon1:c.43_44insTGCTGCTGC:p.L15delinsLLLL",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr11",2869073,2869090,"CCCCCGGCAGCGGCGGCC","-","KCNQ1","nonframeshift deletion","KCNQ1:NM_000218:exon16:c.1871_1888del:p.624_630del,KCNQ1:NM_181798:exon16:c.1490_1507del:p.497_503del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,"NA","NA",0,0,0,"NA",0,"NA",0,"NA",0,"NA","NA",0,0,"VUS"]
["chr11",47359101,47359103,"TCT","-","MYBPC3","nonframeshift deletion","MYBPC3:NM_000256:exon24:c.2441_2443del:p.814_815del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,1,"NA",0,0,1,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr11",47364409,47364409,"C","-","MYBPC3","frameshift deletion","MYBPC3:NM_000256:exon15:c.1429delG:p.V477fs",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr12",32994066,32994104,"CGTCAGCGTAAGCAATGCTTCTGTTATCATGAGATTCTT","-","PKP2","nonframeshift deletion","PKP2:NM_001005242:exon6:c.1414_1452del:p.472_484del,PKP2:NM_004572:exon7:c.1546_1584del:p.516_528del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr13",32893306,32893308,"AAC","-","BRCA2","nonframeshift deletion","BRCA2:NM_000059:exon3:c.160_162del:p.54_54del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr13",32900649,32900649,"-","AAA","BRCA2","nonframeshift insertion","BRCA2:NM_000059:exon7:c.530_531insAAA:p.P177delinsPK",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr13",32913559,32913559,"A","-","BRCA2","frameshift deletion","BRCA2:NM_000059:exon11:c.5067delA:p.A1689fs",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr13",32915215,32915216,"AG","-","BRCA2","frameshift deletion","BRCA2:NM_000059:exon11:c.6723_6724del:p.T2241fs",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr13",32944641,32944643,"GGA","-","BRCA2","nonframeshift deletion","BRCA2:NM_000059:exon19:c.8434_8436del:p.2812_2812del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr13",32950891,32950892,"AA","-","BRCA2","frameshift deletion","BRCA2:NM_000059:exon21:c.8717_8718del:p.E2906fs",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr17",41246624,41246625,"GC","-","BRCA1","frameshift deletion","BRCA1:NM_007297:exon9:c.782_783del:p.S261fs,BRCA1:NM_007294:exon10:c.923_924del:p.S308fs,BRCA1:NM_007300:exon10:c.923_924del:p.S308fs",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr18",28650708,28650708,"G","-","DSC2","frameshift deletion","DSC2:NM_004949:exon14:c.2234delC:p.P745fs,DSC2:NM_024422:exon14:c.2234delC:p.P745fs",1,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"P"]
["chr18",29126063,29126063,"-","AAT","DSG2","nonframeshift insertion","DSG2:NM_001943:exon15:c.2714_2715insAAT:p.E905delinsEI",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",1223099,1223104,"GGCGCG","-","STK11","nonframeshift deletion","STK11:NM_000455:exon8:c.1036_1041del:p.346_347del",0,0,"NA",0,"NA",0,1,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",39008072,39008072,"-","G","RYR1","frameshift insertion","RYR1:NM_000540:exon66:c.9760dupG:p.I3253fs,RYR1:NM_001042723:exon66:c.9760dupG:p.I3253fs",0,0,"NA",0,"NA",0,1,"NA",0,0,"NA","NA",0,1,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",39015999,39016001,"AAG","-","RYR1","nonframeshift deletion","RYR1:NM_001042723:exon70:c.10468_10470del:p.3490_3490del,RYR1:NM_000540:exon71:c.10483_10485del:p.3495_3495del",0,0,"NA",0,"NA",0,0,"NA",1,0,"NA","NA",0,0,"NA",0,0,0,"NA",0,"NA",0,"NA",0,0,"NA",0,0,"VUS"]
["chr19",39055762,39055762,"-","GGGCGC","RYR1","nonframeshift insertion","RYR1:NM_001042723:exon90:c.12773_12774insGGGCGC:p.E4258delinsEGA,RYR1:NM_000540:exon91:c.12788_12789insGGGCGC:p.E4263delinsEGA",0,0,"NA",0,"NA",1,1,"NA",0,0,"NA","NA",0,"NA","NA",0,0,0,"NA",0,"NA",0,"NA",1,"NA","NA",0,0,"VUS"]
[]
["List of 150 SNVs with population MAF < 0.5% and reported as disease causing in HGMD, and 34 indels with population MAF < 0.5%."]
["PVS1, PS1-4, PM1-5, PP1-5, BA1, BS1-4, BP1-7 are evidences marked according to ACMG-AMP criteria. For each evidence, 1 is \"present\", 0 is \"absent\" and NA is \"not available\"."]
["Variants are classified into 5 groups: pathogenic (P), likely pathogenic (LP), benign (B), likely benign (LB), and uncertain significance (VUS) by their evidence of pathogenicity."]