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{"sheet":"Table S1","index":0,"n_rows":1053,"n_cols":31,"rows_kept":1053,"flags":["formulas_cached_only"]}
["Supplementary Table 1. Non-silent variants identified in 56 ACMG genes"]
["AF: Allele frequency. AN: Allele number. AC: Allele count. 1KGP: 1,000 Genomes Project. ESP6500: Exome Sequencing Project"]
[]
["Chr","Start","end","Ref","Alt","Variant ID","Gene","Exonic function","Amino acid change","AF of Korean","AC of Korean","AN of Korean","AF of ExAC\nALL","AF of ExAC\nEAS","AF of ESP6500","AF of 1KGP\nALL","AF of 1KGP\nEAS","CLINSIG","CLNDBN","avsnp147","SIFT","Polyphen2_HDIV","Polyphen2_HVAR","LRT","MutationTaster","CADD_phred","GERP++_RS","HGMD-accession","HGMD-class","HGMD-confidence","HGMD-Disease"]
["chr1",17349159,17349159,"G","A","chr1_17349159_17349159_G_A","SDHB","nonsynonymous SNV","SDHB:NM_003000:exon7:c.C709T:p.P237S",{"v":0.0011547344110854503,"d":"0.0011547"},3,2598,{"v":8.476e-05,"d":"8.48E-05"},0.001,".",0.000399361,0.002,".",".","rs186768244","T","B","B","D","D",22.2,5.62,"CM138884","DM","Low","Paraganglioma:709C>T"]
["chr1",17350548,17350548,"G","A","chr1_17350548_17350548_G_A","SDHB","nonsynonymous SNV","SDHB:NM_003000:exon6:c.C562T:p.L188F",{"v":0.0003878975950349108,"d":"0.0003879"},1,2578,".",".",".",".",".",".",".",".","D","D","D","D","D",31,4.51,".",".",".","."]
["chr1",17350566,17350566,"C","T","chr1_17350566_17350566_C_T","SDHB","nonsynonymous SNV","SDHB:NM_003000:exon6:c.G544A:p.G182R",{"v":0.000390625,"d":"0.0003906"},1,2560,{"v":9.823e-06,"d":"9.82E-06"},0,".",".",".",".",".","rs201928318","D","D","D","D","D",35,5.43,".",".",".","."]
["chr1",17354296,17354296,"G","A","chr1_17354296_17354296_G_A","SDHB","nonsynonymous SNV","SDHB:NM_003000:exon5:c.C488T:p.S163F",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs769687734","D","B","B","D","D",25.2,5.89,".",".",".","."]
["chr1",17355166,17355166,"C","T","chr1_17355166_17355166_C_T","SDHB","nonsynonymous SNV","SDHB:NM_003000:exon4:c.G352A:p.D118N",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0003,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs200021702","T","B","B","D","D",24,6.17,".",".",".","."]
["chr1",45795043,45795043,"G","T","chr1_45795043_45795043_G_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon16:c.C1543A:p.L515M,MUTYH:NM_001048172:exon16:c.C1504A:p.L502M,MUTYH:NM_001048173:exon16:c.C1501A:p.L501M,MUTYH:NM_001048174:exon16:c.C1501A:p.L501M,MUTYH:NM_001128425:exon16:c.C1585A:p.L529M,MUTYH:NM_001293190:exon16:c.C1546A:p.L516M,MUTYH:NM_001293191:exon16:c.C1534A:p.L512M,MUTYH:NM_001293192:exon16:c.C1225A:p.L409M,MUTYH:NM_001293196:exon16:c.C1225A:p.L409M,MUTYH:NM_012222:exon16:c.C1576A:p.L526M,MUTYH:NM_001293195:exon17:c.C1501A:p.L501M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0028,0,0.000231,0.00199681,".","Benign|Uncertain significance|Likely benign|Benign|Likely benign","not_provided|Hereditary_cancer-predisposing_syndrome|not_specified|MYH-associated_polyposis|Carcinoma_of_colon","rs3219496","T","D","D","N","N",24.2,4.42,".",".",".","."]
["chr1",45797401,45797401,"G","A","chr1_45797401_45797401_G_A","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon12:c.C1076T:p.A359V,MUTYH:NM_001048172:exon12:c.C1037T:p.A346V,MUTYH:NM_001048173:exon12:c.C1034T:p.A345V,MUTYH:NM_001048174:exon12:c.C1034T:p.A345V,MUTYH:NM_001128425:exon12:c.C1118T:p.A373V,MUTYH:NM_001293190:exon12:c.C1079T:p.A360V,MUTYH:NM_001293191:exon12:c.C1067T:p.A356V,MUTYH:NM_001293192:exon12:c.C758T:p.A253V,MUTYH:NM_001293196:exon12:c.C758T:p.A253V,MUTYH:NM_012222:exon12:c.C1109T:p.A370V,MUTYH:NM_001293195:exon13:c.C1034T:p.A345V",{"v":0.009593246354566385,"d":"0.0095932"},25,2606,0.0004,0.0045,".",0.00139776,0.0069,"Uncertain significance|other|Likely benign","not_provided|MYH-associated_polyposis|Hereditary_cancer-predisposing_syndrome","rs35352891","T","P","B","D","D",21.1,5.67,"CM077608","DM","Low","Colorectal adenoma:1118C>T"]
["chr1",45797447,45797447,"A","G","chr1_45797447_45797447_A_G","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon12:c.T1030C:p.F344L,MUTYH:NM_001048172:exon12:c.T991C:p.F331L,MUTYH:NM_001048173:exon12:c.T988C:p.F330L,MUTYH:NM_001048174:exon12:c.T988C:p.F330L,MUTYH:NM_001128425:exon12:c.T1072C:p.F358L,MUTYH:NM_001293190:exon12:c.T1033C:p.F345L,MUTYH:NM_001293191:exon12:c.T1021C:p.F341L,MUTYH:NM_001293192:exon12:c.T712C:p.F238L,MUTYH:NM_001293196:exon12:c.T712C:p.F238L,MUTYH:NM_012222:exon12:c.T1063C:p.F355L,MUTYH:NM_001293195:exon13:c.T988C:p.F330L",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":2.051e-05,"d":"2.05E-05"},0.0003,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs587781601","D","B","B","D","D",20.5,4.39,".",".",".","."]
["chr1",45797505,45797505,"C","G","chr1_45797505_45797505_C_G","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon12:c.G972C:p.Q324H,MUTYH:NM_001048172:exon12:c.G933C:p.Q311H,MUTYH:NM_001048173:exon12:c.G930C:p.Q310H,MUTYH:NM_001048174:exon12:c.G930C:p.Q310H,MUTYH:NM_001128425:exon12:c.G1014C:p.Q338H,MUTYH:NM_001293190:exon12:c.G975C:p.Q325H,MUTYH:NM_001293191:exon12:c.G963C:p.Q321H,MUTYH:NM_001293192:exon12:c.G654C:p.Q218H,MUTYH:NM_001293196:exon12:c.G654C:p.Q218H,MUTYH:NM_012222:exon12:c.G1005C:p.Q335H,MUTYH:NM_001293195:exon13:c.G930C:p.Q310H",{"v":0.38470407378939275,"d":"0.3847041"},1001,2602,0.3016,0.4292,0.254115,0.313498,0.3909,"Benign|Benign|Benign|Benign","not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon","rs3219489","T","P","B","N","P",6.039,1.26,".",".",".","."]
["chr1",45797731,45797731,"C","T","chr1_45797731_45797731_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon11:c.G919A:p.G307R,MUTYH:NM_001048172:exon11:c.G880A:p.G294R,MUTYH:NM_001048173:exon11:c.G877A:p.G293R,MUTYH:NM_001048174:exon11:c.G877A:p.G293R,MUTYH:NM_001128425:exon11:c.G961A:p.G321R,MUTYH:NM_001293190:exon11:c.G922A:p.G308R,MUTYH:NM_001293191:exon11:c.G910A:p.G304R,MUTYH:NM_001293192:exon11:c.G601A:p.G201R,MUTYH:NM_001293196:exon11:c.G601A:p.G201R,MUTYH:NM_012222:exon11:c.G952A:p.G318R,MUTYH:NM_001293195:exon12:c.G877A:p.G293R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.418e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs765686051","T","B","B","N","N",2.295,4.93,".",".",".","."]
["chr1",45797914,45797914,"C","T","chr1_45797914_45797914_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon10:c.G815A:p.G272E,MUTYH:NM_001048172:exon10:c.G776A:p.G259E,MUTYH:NM_001048173:exon10:c.G773A:p.G258E,MUTYH:NM_001048174:exon10:c.G773A:p.G258E,MUTYH:NM_001128425:exon10:c.G857A:p.G286E,MUTYH:NM_001293190:exon10:c.G818A:p.G273E,MUTYH:NM_001293191:exon10:c.G806A:p.G269E,MUTYH:NM_001293192:exon10:c.G497A:p.G166E,MUTYH:NM_001293196:exon10:c.G497A:p.G166E,MUTYH:NM_012222:exon10:c.G848A:p.G283E,MUTYH:NM_001293195:exon11:c.G773A:p.G258E",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":2.843e-05,"d":"2.84E-05"},0.0001,".",".",".","Pathogenic|Pathogenic","Hereditary_cancer-predisposing_syndrome|MYH-associated_polyposis","rs730881833","D","D","D","D","D",30,5.51,"CM077610","DM","High","Colorectal adenoma:857G>A"]
["chr1",45797929,45797929,"G","A","chr1_45797929_45797929_G_A","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon10:c.C800T:p.A267V,MUTYH:NM_001048172:exon10:c.C761T:p.A254V,MUTYH:NM_001048173:exon10:c.C758T:p.A253V,MUTYH:NM_001048174:exon10:c.C758T:p.A253V,MUTYH:NM_001128425:exon10:c.C842T:p.A281V,MUTYH:NM_001293190:exon10:c.C803T:p.A268V,MUTYH:NM_001293191:exon10:c.C791T:p.A264V,MUTYH:NM_001293192:exon10:c.C482T:p.A161V,MUTYH:NM_001293196:exon10:c.C482T:p.A161V,MUTYH:NM_012222:exon10:c.C833T:p.A278V,MUTYH:NM_001293195:exon11:c.C758T:p.A253V",{"v":0.0013489208633093526,"d":"0.0013489"},3,2224,".",".",".",".",".",".",".",".","D","D","D","D","D",28.2,5.64,".",".",".","."]
["chr1",45797972,45797972,"G","A","chr1_45797972_45797972_G_A","MUTYH","stopgain","MUTYH:NM_001048171:exon10:c.C757T:p.Q253X,MUTYH:NM_001048172:exon10:c.C718T:p.Q240X,MUTYH:NM_001048173:exon10:c.C715T:p.Q239X,MUTYH:NM_001048174:exon10:c.C715T:p.Q239X,MUTYH:NM_001128425:exon10:c.C799T:p.Q267X,MUTYH:NM_001293190:exon10:c.C760T:p.Q254X,MUTYH:NM_001293191:exon10:c.C748T:p.Q250X,MUTYH:NM_001293192:exon10:c.C439T:p.Q147X,MUTYH:NM_001293196:exon10:c.C439T:p.Q147X,MUTYH:NM_012222:exon10:c.C790T:p.Q264X,MUTYH:NM_001293195:exon11:c.C715T:p.Q239X",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".","Pathogenic|Pathogenic","Hereditary_cancer-predisposing_syndrome|MYH-associated_polyposis","rs786203115",".",".",".","D","A",36,5.64,"CM077607","DM","High","Colorectal adenoma:799C>T"]
["chr1",45798157,45798157,"T","C","chr1_45798157_45798157_T_C","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon9:c.A652G:p.T218A,MUTYH:NM_001048172:exon9:c.A613G:p.T205A,MUTYH:NM_001048173:exon9:c.A610G:p.T204A,MUTYH:NM_001048174:exon9:c.A610G:p.T204A,MUTYH:NM_001128425:exon9:c.A694G:p.T232A,MUTYH:NM_001293190:exon9:c.A655G:p.T219A,MUTYH:NM_001293191:exon9:c.A643G:p.T215A,MUTYH:NM_001293192:exon9:c.A334G:p.T112A,MUTYH:NM_001293196:exon9:c.A334G:p.T112A,MUTYH:NM_012222:exon9:c.A685G:p.T229A,MUTYH:NM_001293195:exon10:c.A610G:p.T204A",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":9.495e-06,"d":"9.50E-06"},0,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs587782351","T","B","B","N","N",0.018,-0.622,".",".",".","."]
["chr1",45798286,45798286,"C","T","chr1_45798286_45798286_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon8:c.G608A:p.R203H,MUTYH:NM_001048172:exon8:c.G569A:p.R190H,MUTYH:NM_001048173:exon8:c.G566A:p.R189H,MUTYH:NM_001048174:exon8:c.G566A:p.R189H,MUTYH:NM_001128425:exon8:c.G650A:p.R217H,MUTYH:NM_001293190:exon8:c.G611A:p.R204H,MUTYH:NM_001293191:exon8:c.G599A:p.R200H,MUTYH:NM_001293192:exon8:c.G290A:p.R97H,MUTYH:NM_001293196:exon8:c.G290A:p.R97H,MUTYH:NM_012222:exon8:c.G641A:p.R214H,MUTYH:NM_001293195:exon9:c.G566A:p.R189H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":4.711e-05,"d":"4.71E-05"},0,0.000154,".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs147754007","D","D","D","D","D",29.4,3.55,".",".",".","."]
["chr1",45798328,45798328,"C","G","chr1_45798328_45798328_C_G","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon8:c.G566C:p.R189P,MUTYH:NM_001048172:exon8:c.G527C:p.R176P,MUTYH:NM_001048173:exon8:c.G524C:p.R175P,MUTYH:NM_001048174:exon8:c.G524C:p.R175P,MUTYH:NM_001128425:exon8:c.G608C:p.R203P,MUTYH:NM_001293190:exon8:c.G569C:p.R190P,MUTYH:NM_001293191:exon8:c.G557C:p.R186P,MUTYH:NM_001293192:exon8:c.G248C:p.R83P,MUTYH:NM_001293196:exon8:c.G248C:p.R83P,MUTYH:NM_012222:exon8:c.G599C:p.R200P,MUTYH:NM_001293195:exon9:c.G524C:p.R175P",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0004,".",0.000199681,0.001,"Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs538383136","T","D","D","D","N",24.7,3.51,".",".",".","."]
["chr1",45798457,45798457,"C","T","chr1_45798457_45798457_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon7:c.G512A:p.R171Q,MUTYH:NM_001048172:exon7:c.G473A:p.R158Q,MUTYH:NM_001048173:exon7:c.G470A:p.R157Q,MUTYH:NM_001048174:exon7:c.G470A:p.R157Q,MUTYH:NM_001128425:exon7:c.G554A:p.R185Q,MUTYH:NM_001293190:exon7:c.G515A:p.R172Q,MUTYH:NM_001293191:exon7:c.G503A:p.R168Q,MUTYH:NM_001293192:exon7:c.G194A:p.R65Q,MUTYH:NM_001293196:exon7:c.G194A:p.R65Q,MUTYH:NM_012222:exon7:c.G545A:p.R182Q,MUTYH:NM_001293195:exon8:c.G470A:p.R157Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.417e-06,"d":"9.42E-06"},0.0001,".",0.000199681,0.001,".",".","rs533899702","T","D","P","D","D",26.6,4.99,"CM062886","DM","High","Adenomatous polyposis coli:554G>A"]
["chr1",45798460,45798460,"C","T","chr1_45798460_45798460_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon7:c.G509A:p.R170Q,MUTYH:NM_001048172:exon7:c.G470A:p.R157Q,MUTYH:NM_001048173:exon7:c.G467A:p.R156Q,MUTYH:NM_001048174:exon7:c.G467A:p.R156Q,MUTYH:NM_001128425:exon7:c.G551A:p.R184Q,MUTYH:NM_001293190:exon7:c.G512A:p.R171Q,MUTYH:NM_001293191:exon7:c.G500A:p.R167Q,MUTYH:NM_001293192:exon7:c.G191A:p.R64Q,MUTYH:NM_001293196:exon7:c.G191A:p.R64Q,MUTYH:NM_012222:exon7:c.G542A:p.R181Q,MUTYH:NM_001293195:exon8:c.G467A:p.R156Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0001,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs758567247","T","D","D","D","D",29,4.99,"CM073209","DM","High","Colorectal adenoma:551G>A"]
["chr1",45798601,45798601,"C","T","chr1_45798601_45798601_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon6:c.G451A:p.A151T,MUTYH:NM_001048172:exon6:c.G412A:p.A138T,MUTYH:NM_001048173:exon6:c.G409A:p.A137T,MUTYH:NM_001048174:exon6:c.G409A:p.A137T,MUTYH:NM_001128425:exon6:c.G493A:p.A165T,MUTYH:NM_001293190:exon6:c.G454A:p.A152T,MUTYH:NM_001293191:exon6:c.G442A:p.A148T,MUTYH:NM_001293192:exon6:c.G133A:p.A45T,MUTYH:NM_001293196:exon6:c.G133A:p.A45T,MUTYH:NM_012222:exon6:c.G484A:p.A162T,MUTYH:NM_001293195:exon7:c.G409A:p.A137T",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":4.711e-05,"d":"4.71E-05"},0.0005,".",0.000199681,0.001,"Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs201103359","D","D","D","D","D",29.1,5.15,".",".",".","."]
["chr1",45798968,45798968,"C","T","chr1_45798968_45798968_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon4:c.G335A:p.R112Q,MUTYH:NM_001048172:exon4:c.G296A:p.R99Q,MUTYH:NM_001048173:exon4:c.G293A:p.R98Q,MUTYH:NM_001048174:exon4:c.G293A:p.R98Q,MUTYH:NM_001128425:exon4:c.G377A:p.R126Q,MUTYH:NM_001293190:exon4:c.G338A:p.R113Q,MUTYH:NM_001293191:exon4:c.G326A:p.R109Q,MUTYH:NM_001293192:exon4:c.G17A:p.R6Q,MUTYH:NM_001293196:exon4:c.G17A:p.R6Q,MUTYH:NM_012222:exon4:c.G368A:p.R123Q,MUTYH:NM_001293195:exon5:c.G293A:p.R98Q",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":2.826e-05,"d":"2.83E-05"},0.0003,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs587781444","D","D","D","D","D",33,5.86,".",".",".","."]
["chr1",45800146,45800146,"C","T","chr1_45800146_45800146_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon2:c.G74A:p.G25D,MUTYH:NM_001048172:exon2:c.G32A:p.G11D,MUTYH:NM_001048173:exon2:c.G32A:p.G11D,MUTYH:NM_001048174:exon2:c.G32A:p.G11D,MUTYH:NM_001128425:exon2:c.G74A:p.G25D,MUTYH:NM_001293190:exon2:c.G74A:p.G25D,MUTYH:NM_001293191:exon2:c.G32A:p.G11D,MUTYH:NM_012222:exon2:c.G74A:p.G25D,MUTYH:NM_001293195:exon3:c.G32A:p.G11D",{"v":0.009593246354566385,"d":"0.0095932"},25,2606,0.0012,0.0139,".",0.00179712,0.0079,"Uncertain significance|not provided|Benign|Uncertain significance","not_provided|not_specified|MYH-associated_polyposis|Hereditary_cancer-predisposing_syndrome","rs75321043","T","P","B","N","N",14.23,2.92,"CM083730","DM","High","Adenomatous polyposis coli:74G>A"]
["chr1",45800165,45800165,"G","A","chr1_45800165_45800165_G_A","MUTYH","stopgain","MUTYH:NM_001048171:exon2:c.C55T:p.R19X,MUTYH:NM_001048172:exon2:c.C13T:p.R5X,MUTYH:NM_001048173:exon2:c.C13T:p.R5X,MUTYH:NM_001048174:exon2:c.C13T:p.R5X,MUTYH:NM_001128425:exon2:c.C55T:p.R19X,MUTYH:NM_001293190:exon2:c.C55T:p.R19X,MUTYH:NM_001293191:exon2:c.C13T:p.R5X,MUTYH:NM_012222:exon2:c.C55T:p.R19X,MUTYH:NM_001293195:exon3:c.C13T:p.R5X",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,".",".",".",".",".","Pathogenic|Pathogenic|Pathogenic","Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon|MYH-associated_polyposis","rs587780088",".",".",".","N","A",37,4.3,"CM099025","DM","High","MUTYH-associated polyposis:55C>T"]
["chr1",45800167,45800167,"G","A","chr1_45800167_45800167_G_A","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon2:c.C53T:p.P18L,MUTYH:NM_001048172:exon2:c.C11T:p.P4L,MUTYH:NM_001048173:exon2:c.C11T:p.P4L,MUTYH:NM_001048174:exon2:c.C11T:p.P4L,MUTYH:NM_001128425:exon2:c.C53T:p.P18L,MUTYH:NM_001293190:exon2:c.C53T:p.P18L,MUTYH:NM_001293191:exon2:c.C11T:p.P4L,MUTYH:NM_012222:exon2:c.C53T:p.P18L,MUTYH:NM_001293195:exon3:c.C11T:p.P4L",{"v":0.009607993850883935,"d":"0.0096080"},25,2602,0.0012,0.0139,".",0.00179712,0.0079,"Uncertain significance|not provided|Benign|Uncertain significance","not_provided|not_specified|MYH-associated_polyposis|Hereditary_cancer-predisposing_syndrome","rs79777494","T","B","B","N","D",16.72,2.41,"CM083727","DM","High","Adenomatous polyposis coli:53C>T"]
["chr1",45805898,45805898,"C","T","chr1_45805898_45805898_C_T","MUTYH","nonsynonymous SNV","MUTYH:NM_001048171:exon1:c.G29A:p.R10H,MUTYH:NM_001128425:exon1:c.G29A:p.R10H,MUTYH:NM_001293190:exon1:c.G29A:p.R10H,MUTYH:NM_012222:exon1:c.G29A:p.R10H",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":9.78e-06,"d":"9.78E-06"},0,".",".",".",".",".","rs755928199","T","D","P","N","N",14.67,0.469,".",".",".","."]
["chr1",55505520,55505520,"G","A","chr1_55505520_55505520_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon1:c.G10A:p.V4I",{"v":0.009900990099009901,"d":"0.0099010"},22,2222,0.0003,0.004,".",0.000399361,0.002,".",".","rs186669805","T","B","B",".","N",10.56,1.05,"CM084646","DM","High","High LDL cholesterol:10G>A"]
["chr1",55505552,55505552,"-","CTG","chr1_55505552_55505552_-_CTG","PCSK9","nonframeshift insertion","PCSK9:NM_174936:exon1:c.42_43insCTG:p.P14delinsPL",{"v":0.13018018018018018,"d":"0.1301802"},289,2220,0.1373,0.083,".",".",".",".",".","rs113330492",".",".",".",".",".",6.163,3.05,".",".",".","."]
["chr1",55505604,55505604,"G","A","chr1_55505604_55505604_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon1:c.G94A:p.E32K",{"v":0.0015552099533437014,"d":"0.0015552"},4,2572,{"v":9.381e-05,"d":"9.38E-05"},0.0019,".",0.000399361,0.002,".",".","rs564427867","T","B","B","U","N",13.91,0.333,"CM084647","DM","High","High LDL cholesterol:94G>A"]
["chr1",55505668,55505668,"C","T","chr1_55505668_55505668_C_T","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon1:c.C158T:p.A53V",{"v":0.11498708010335917,"d":"0.1149871"},89,774,0.1977,0.2385,0.095817,0.091254,0.1032,"Benign","Familial_hypercholesterolemia","rs11583680","T","B","B","N","P",18.29,2.23,"CM102603","DM","Low","Hypercholesterolaemia:158C>T"]
["chr1",55509561,55509561,"G","A","chr1_55509561_55509561_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon2:c.G253A:p.E85K",{"v":0.0007692307692307692,"d":"0.0007692"},2,2600,{"v":2.835e-05,"d":"2.84E-05"},0.0003,".",".",".",".",".","rs774506287","T","B","B","N","N",12.05,3.51,".",".",".","."]
["chr1",55509585,55509585,"C","T","chr1_55509585_55509585_C_T","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon2:c.C277T:p.R93C",{"v":0.018518518518518517,"d":"0.0185185"},48,2592,0.0006,0.0083,".",0.00259585,0.0129,".",".","rs151193009","D","D","D","N","N",28.4,2.32,".",".",".","."]
["chr1",55518019,55518019,"G","A","chr1_55518019_55518019_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon4:c.G592A:p.G198S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.418e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs764087262","D","D","D","D","D",25.3,3.13,".",".",".","."]
["chr1",55518082,55518082,"C","G","chr1_55518082_55518082_C_G","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon4:c.C655G:p.Q219E",{"v":0.0007698229407236335,"d":"0.0007698"},2,2598,{"v":2.832e-05,"d":"2.83E-05"},0.0004,".",".",".",".",".","rs778617372","T","B","B","N","D",21.8,3.72,"CM084652","DM","High","Low LDL cholesterol:655C>G"]
["chr1",55518452,55518452,"G","A","chr1_55518452_55518452_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon5:c.G787A:p.G263S",{"v":0.00045413260672116256,"d":"0.0004541"},1,2202,{"v":2.853e-05,"d":"2.85E-05"},0.0003,".",0.000399361,0.002,".",".","rs200146448","T","B","B","N","D",15.73,-6.53,"CM102604","DM","Low","Hypercholesterolaemia:787G>A"]
["chr1",55518456,55518456,"C","T","chr1_55518456_55518456_C_T","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon5:c.C791T:p.T264I",{"v":0.004079782411604714,"d":"0.0040798"},9,2206,0.0001,0.0019,".",0.000199681,0.001,".",".","rs201789841","T","B","B","N","N",11.49,-1.62,".",".",".","."]
["chr1",55521821,55521821,"C","T","chr1_55521821_55521821_C_T","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon6:c.C955T:p.R319W",{"v":0.0012853470437017994,"d":"0.0012853"},1,778,{"v":2.961e-05,"d":"2.96E-05"},0,".",".",".",".",".","rs746442570","D","D","D","U","N",25.1,-0.144,".",".",".","."]
["chr1",55523798,55523798,"A","G","chr1_55523798_55523798_A_G","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon8:c.A1270G:p.I424V",{"v":0.0015432098765432098,"d":"0.0015432"},4,2592,{"v":8.486e-05,"d":"8.49E-05"},0.0011,".",".",".",".",".","rs759250273","T","B","B","D","N",13.67,2.17,".",".",".","."]
["chr1",55524237,55524237,"G","A","chr1_55524237_55524237_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon9:c.G1420A:p.V474I",{"v":0.9759309718437784,"d":"0.9759310"},2149,2202,0.8572,0.9912,0.817776,0.86901,0.9881,"Benign","not_specified","rs562556","T","B","B","N","P",0.004,-8.95,".",".",".","."]
["chr1",55525192,55525192,"A","G","chr1_55525192_55525192_A_G","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon10:c.A1537G:p.N513D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","P","N","D",25.3,3.42,".",".",".","."]
["chr1",55525195,55525195,"G","A","chr1_55525195_55525195_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon10:c.G1540A:p.A514T",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","D","D","P","D","D",26.9,2.71,"CM084650","DM","High","High LDL cholesterol:1540G>A"]
["chr1",55527093,55527093,"C","T","chr1_55527093_55527093_C_T","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon11:c.C1727T:p.P576L",{"v":0.0011583011583011582,"d":"0.0011583"},3,2590,0.0002,0.0015,".",".",".",".",".","rs72646525","T","B","B","U","N",12.53,-5.77,".",".",".","."]
["chr1",55529048,55529048,"G","A","chr1_55529048_55529048_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon12:c.G1870A:p.V624M",{"v":0.001199040767386091,"d":"0.0011990"},3,2502,{"v":5.391e-05,"d":"5.39E-05"},0.0001,".",".",".",".",".","rs760437822","D","D","D","N","D",23.9,2.75,"CM084651","DM","High","High LDL cholesterol:1870G>A"]
["chr1",55529064,55529064,"G","A","chr1_55529064_55529064_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon12:c.G1886A:p.G629D",{"v":0.000390625,"d":"0.0003906"},1,2560,".",".",".",".",".",".",".",".","D","D","D","D","D",25.4,2.75,".",".",".","."]
["chr1",55529108,55529108,"G","A","chr1_55529108_55529108_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon12:c.G1930A:p.V644I",{"v":0.0007733952049497294,"d":"0.0007734"},2,2586,{"v":4.862e-05,"d":"4.86E-05"},0.0003,7.7e-05,0.000399361,0.001,".",".","rs143291739","T","B","B","N","N",0.016,-6.75,".",".",".","."]
["chr1",55529153,55529153,"C","G","chr1_55529153_55529153_C_G","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon12:c.C1975G:p.R659G",{"v":0.0015384615384615385,"d":"0.0015385"},4,2600,{"v":3.786e-05,"d":"3.79E-05"},0.0005,".",".",".",".",".","rs147182054","T","B","B","N","N",9.895,1.46,".",".",".","."]
["chr1",55529182,55529182,"C","A","chr1_55529182_55529182_C_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon12:c.C2004A:p.S668R",{"v":0.0007692307692307692,"d":"0.0007692"},2,2600,{"v":2.845e-05,"d":"2.85E-05"},0.0004,".",".",".",".",".","rs762298323","T","B","B","N","N",0.684,-5.43,"CM084655","DM","High","Low LDL cholesterol:2004C>A"]
["chr1",55529187,55529187,"G","A","chr1_55529187_55529187_G_A","PCSK9","nonsynonymous SNV","PCSK9:NM_174936:exon12:c.G2009A:p.G670E",{"v":0.9458109146810146,"d":"0.9458109"},2461,2602,0.9433,0.9456,0.889436,0.898962,0.9603,"Benign","Familial_hypercholesterolemia","rs505151","T","B","B","N","P",0.003,0.348,".",".",".","."]
["chr1",55529225,55529225,"-","A","chr1_55529225_55529225_-_A","PCSK9","frameshift insertion","PCSK9:NM_174936:exon12:c.2048dupA:p.H683fs",{"v":0.0024752475247524753,"d":"0.0024752"},1,404,".",".",".",".",".",".",".",".",".",".",".",".",".",24.6,1.37,".",".",".","."]
["chr1",156104245,156104245,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.885e-05,"d":"1.89E-05"},0.0001,7.7e-05,0.000399361,0.002,"not provided|Uncertain significance","not_provided|Primary_dilated_cardiomyopathy","rs267607626","T","D","D","D","D",26.2,3.3,"CM101732","DM","High","Cardiomyopathy  dilated:565C>T"]
["chr1",156106135,156106135,"T","C","chr1_156106135_156106135_T_C","LMNA","nonsynonymous SNV","LMNA:NM_001257374:exon7:c.T952C:p.F318L,LMNA:NM_001282626:exon7:c.T1288C:p.F430L,LMNA:NM_005572:exon7:c.T1288C:p.F430L,LMNA:NM_170707:exon7:c.T1288C:p.F430L,LMNA:NM_170708:exon7:c.T1288C:p.F430L,LMNA:NM_001282624:exon8:c.T1045C:p.F349L,LMNA:NM_001282625:exon10:c.T1288C:p.F430L",{"v":0.00045413260672116256,"d":"0.0004541"},1,2202,".",".",".",".",".",".",".",".","T","B","B","D","D",14.97,5.74,".",".",".","."]
["chr1",161293408,161293408,"G","A","chr1_161293408_161293408_G_A","SDHC","nonsynonymous SNV","SDHC:NM_001035511:exon2:c.G25A:p.V9I,SDHC:NM_001035512:exon2:c.G25A:p.V9I,SDHC:NM_001278172:exon2:c.G25A:p.V9I,SDHC:NM_003001:exon2:c.G25A:p.V9I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.774e-05,"d":"3.77E-05"},0.0005,".",".",".",".",".","rs774768866","T","P","B","N","N",12.61,2.58,".",".",".","."]
["chr1",161293415,161293415,"G","A","chr1_161293415_161293415_G_A","SDHC","nonsynonymous SNV","SDHC:NM_001035511:exon2:c.G32A:p.R11H,SDHC:NM_001035512:exon2:c.G32A:p.R11H,SDHC:NM_001278172:exon2:c.G32A:p.R11H,SDHC:NM_003001:exon2:c.G32A:p.R11H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.431e-06,"d":"9.43E-06"},0,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs767802663","T","D","D","D","D",21.6,3.64,".",".",".","."]
["chr1",161298236,161298236,"A","G","chr1_161298236_161298236_A_G","SDHC","nonsynonymous SNV","SDHC:NM_001035511:exon3:c.A128G:p.N43S,SDHC:NM_003001:exon3:c.A128G:p.N43S",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":1.883e-05,"d":"1.88E-05"},0.0003,".",".",".",".",".","rs747349777","T","B","B","N","D",3.903,-2.19,".",".",".","."]
["chr1",201009027,201009027,"C","T","chr1_201009027_201009027_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon44:c.G5554A:p.G1852R",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,0.0003,0.0038,".",0.000199681,0.001,".",".","rs540721779","T","B","B",".","N",0.005,-8.9,".",".",".","."]
["chr1",201009182,201009182,"A","G","chr1_201009182_201009182_A_G","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon44:c.T5399C:p.L1800S",{"v":0.10859554873369148,"d":"0.1085955"},283,2606,0.1532,0.1266,0.269799,0.229233,0.1091,".",".","rs12139527","D","D","D",".","P",27.7,4.93,".",".",".","."]
["chr1",201016296,201016296,"G","A","chr1_201016296_201016296_G_A","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon38:c.C4615T:p.R1539C",{"v":0.03837298541826554,"d":"0.0383730"},100,2606,0.1185,0.0356,0.089266,0.0840655,0.0397,"Benign","not_specified","rs3850625","D","P","B","D","P",34,5.17,".",".",".","."]
["chr1",201016301,201016301,"A","G","chr1_201016301_201016301_A_G","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon38:c.T4610C:p.M1537T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs771685251","D","P","P","D","D",23.6,5.17,".",".",".","."]
["chr1",201022624,201022624,"A","G","chr1_201022624_201022624_A_G","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon30:c.T3758C:p.V1253A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.417e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs759331517","D","P","P","N","D",27.8,4.05,".",".",".","."]
["chr1",201022697,201022697,"G","A","chr1_201022697_201022697_G_A","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon30:c.C3685T:p.R1229C",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,{"v":9.462e-06,"d":"9.46E-06"},0,".",".",".",".",".","rs781070076","D","D","D","N","D",35,4.05,".",".",".","."]
["chr1",201028332,201028332,"C","T","chr1_201028332_201028332_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon27:c.G3510A:p.M1170I",{"v":0.002304147465437788,"d":"0.0023041"},6,2604,{"v":4.731e-05,"d":"4.73E-05"},0.0006,".",".",".",".",".","rs759535852","T","B","B","N","D",13.5,2.53,".",".",".","."]
["chr1",201029913,201029913,"C","T","chr1_201029913_201029913_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon26:c.G3287A:p.R1096H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0.0009,7.7e-05,0.000199681,0.001,".",".","rs142102094","D","P","B","D","D",23.5,4.25,".",".",".","."]
["chr1",201030552,201030552,"G","A","chr1_201030552_201030552_G_A","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon25:c.C3098T:p.P1033L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",29.6,5.21,".",".",".","."]
["chr1",201031082,201031082,"C","T","chr1_201031082_201031082_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon24:c.G3043A:p.G1015R",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":4.712e-05,"d":"4.71E-05"},0.0004,".",0.000199681,0.001,".",".","rs202242262","D","D","D","D","D",34,5.17,".",".",".","."]
["chr1",201031160,201031160,"C","T","chr1_201031160_201031160_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon24:c.G2965A:p.E989K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",10.82,0.451,".",".",".","."]
["chr1",201031165,201031165,"T","C","chr1_201031165_201031165_T_C","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon24:c.A2960G:p.H987R",{"v":0.004604758250191865,"d":"0.0046048"},12,2606,0.0003,0.0046,".",0.000399361,0.002,".",".","rs201174511","T","B","B","N","N",0.001,-0.591,".",".",".","."]
["chr1",201031617,201031617,"A","T","chr1_201031617_201031617_A_T","CACNA1S","stopgain","CACNA1S:NM_000069:exon23:c.T2879A:p.L960X",{"v":0.00041254125412541255,"d":"0.0004125"},1,2424,".",".",".",".",".",".",".",".",".",".",".","N","A",37,2.56,".",".",".","."]
["chr1",201035025,201035025,"C","T","chr1_201035025_201035025_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon22:c.G2794A:p.V932M",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":2.906e-05,"d":"2.91E-05"},0.0001,0.000154,".",".",".",".","rs373701906","T","D","D","D","D",24,3.27,".",".",".","."]
["chr1",201036040,201036040,"C","T","chr1_201036040_201036040_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon20:c.G2632A:p.V878M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.903e-05,"d":"1.90E-05"},0.0001,7.7e-05,0.000199681,0.001,".",".","rs202131129","D","D","D","D","D",34,3.81,".",".",".","."]
["chr1",201042727,201042727,"T","G","chr1_201042727_201042727_T_G","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon15:c.A2107C:p.K703Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.415e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs763966292","T","B","B","U","D",23.7,4.39,".",".",".","."]
["chr1",201042730,201042730,"C","G","chr1_201042730_201042730_C_G","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon15:c.G2104C:p.A702P",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","P","U","D",24.4,3.47,".",".",".","."]
["chr1",201044635,201044635,"C","T","chr1_201044635_201044635_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon13:c.G1936A:p.V646I",{"v":0.002686108979278588,"d":"0.0026861"},7,2606,0.0001,0.001,".",0.000399361,0.002,".",".","rs139860737","T","B","B","N","D",15.99,2.53,".",".",".","."]
["chr1",201044656,201044656,"T","C","chr1_201044656_201044656_T_C","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon13:c.A1915G:p.I639V",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":3.766e-05,"d":"3.77E-05"},0.0005,".",0.000399361,0.002,".",".","rs185777948","T","B","B","D","D",15.74,3.32,".",".",".","."]
["chr1",201046130,201046130,"C","G","chr1_201046130_201046130_C_G","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon12:c.G1745C:p.G582A",{"v":0.0007716049382716049,"d":"0.0007716"},2,2592,".",".",".",".",".",".",".","rs377459546","D","D","D","D","D",27.4,4.45,".",".",".","."]
["chr1",201046164,201046164,"C","T","chr1_201046164_201046164_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon12:c.G1711A:p.V571I",{"v":0.00039154267815191856,"d":"0.0003915"},1,2554,0.0007,0.0003,0.00223,0.00159744,0.001,".",".","rs114191482","T","B","B","N","N",11.96,-2.76,".",".",".","."]
["chr1",201047146,201047154,"ACATGAAGT","-","chr1_201047146_201047154_ACATGAAGT_-","CACNA1S","nonframeshift deletion","CACNA1S:NM_000069:exon11:c.1472_1480del:p.491_494del",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",22.4,4.78,".",".",".","."]
["chr1",201047221,201047221,"G","A","chr1_201047221_201047221_G_A","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon11:c.C1405T:p.R469W",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.767e-05,"d":"3.77E-05"},0.0003,".",".",".",".",".","rs751576994","T","D","D","N","D",25.5,3.64,".",".",".","."]
["chr1",201054620,201054620,"C","A","chr1_201054620_201054620_C_A","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon8:c.G1094T:p.G365V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",33,4.69,".",".",".","."]
["chr1",201058394,201058394,"G","T","chr1_201058394_201058394_G_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon6:c.C892A:p.L298I",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","P","D","D",24.1,4.85,".",".",".","."]
["chr1",201058502,201058502,"G","A","chr1_201058502_201058502_G_A","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon6:c.C784T:p.R262W",{"v":0.002690238278247502,"d":"0.0026902"},7,2602,{"v":7.563e-05,"d":"7.56E-05"},0.001,".",0.000399361,0.002,".",".","rs186538122","D","D","D","D","D",31,3.88,".",".",".","."]
["chr1",201058513,201058513,"C","T","chr1_201058513_201058513_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon6:c.G773A:p.G258D",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,0.007,0,0.007767,0.00379393,".",".",".","rs35534614","T","D","D","D","D",23.2,4.85,".",".",".","."]
["chr1",201058520,201058520,"T","C","chr1_201058520_201058520_T_C","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon6:c.A766G:p.I256V",{"v":0.003843197540353574,"d":"0.0038432"},10,2602,{"v":3.786e-05,"d":"3.79E-05"},0.0005,".",0.000199681,0.001,".",".","rs190152688","T","P","P","D","D",12.14,4.85,".",".",".","."]
["chr1",201060806,201060806,"T","C","chr1_201060806_201060806_T_C","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon5:c.A656G:p.K219R",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0003,".",".",".",".",".","rs771569004","T","P","P","D","D",16.32,5.04,".",".",".","."]
["chr1",201061196,201061196,"T","C","chr1_201061196_201061196_T_C","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon4:c.A445G:p.T149A",{"v":0.003837298541826554,"d":"0.0038373"},10,2606,{"v":6.591e-05,"d":"6.59E-05"},0.0009,".",0.000199681,0.001,".",".","rs74642988","T","B","B","U","N",12.22,3.01,".",".",".","."]
["chr1",201063083,201063083,"C","T","chr1_201063083_201063083_C_T","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon3:c.G325A:p.G109S",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":9.415e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs764602257","D","D","D","D","D",34,4.42,".",".",".","."]
["chr1",201081421,201081421,"G","A","chr1_201081421_201081421_G_A","CACNA1S","nonsynonymous SNV","CACNA1S:NM_000069:exon1:c.C47T:p.P16L",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs768611153","T","B","B","U","D",19.35,5.39,".",".",".","."]
["chr1",201330429,201330429,"T","C","chr1_201330429_201330429_T_C","TNNT2","nonsynonymous SNV","TNNT2:NM_001001432:exon12:c.A740G:p.K247R,TNNT2:NM_001001431:exon13:c.A749G:p.K250R,TNNT2:NM_001276346:exon13:c.A659G:p.K220R,TNNT2:NM_000364:exon14:c.A779G:p.K260R,TNNT2:NM_001001430:exon14:c.A758G:p.K253R,TNNT2:NM_001276347:exon14:c.A758G:p.K253R,TNNT2:NM_001276345:exon15:c.A788G:p.K263R",{"v":0.04796623177283193,"d":"0.0479662"},125,2606,0.0537,0.0453,0.060203,0.0974441,0.0466,"Benign|Benign|Benign","not_specified|not_provided|Primary_familial_hypertrophic_cardiomyopathy","rs3730238","T","B","B","N","P",17.6,2.57,".",".",".","."]
["chr1",201333463,201333463,"C","T","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",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".","Pathogenic","Cardiomyopathy","rs730881101","D","D","D","D","D",35,4.28,"CM087866","DM","High","Cardiomyopathy  dilated:422G>A"]
["chr1",201333479,201333479,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.844e-06,"d":"9.84E-06"},0,7.7e-05,".",".","Uncertain significance","Primary_dilated_cardiomyopathy","rs371142225","D","D","D","D","D",33,4.28,"CM086987","DM","Low","Cardiomyopathy  restrictive:406G>A"]
["chr1",201334415,201334415,"C","G","chr1_201334415_201334415_C_G","TNNT2","nonsynonymous SNV","TNNT2:NM_001001432:exon8:c.G270C:p.M90I,TNNT2:NM_001001430:exon9:c.G285C:p.M95I,TNNT2:NM_001001431:exon9:c.G285C:p.M95I,TNNT2:NM_001276347:exon9:c.G285C:p.M95I,TNNT2:NM_000364:exon10:c.G315C:p.M105I,TNNT2:NM_001276345:exon10:c.G315C:p.M105I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","P","D","D",22.7,4.1,".",".",".","."]
["chr1",237205840,237205840,"G","A","chr1_237205840_237205840_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon1:c.G19A:p.G7S",{"v":0.0015408320493066256,"d":"0.0015408"},4,2596,0.0003,0.003,".",".",".","Uncertain significance","not_provided","rs779910353","T","P","B",".","D",26,3.07,".",".",".","."]
["chr1",237550594,237550594,"G","A","chr1_237550594_237550594_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon9:c.G590A:p.G197D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","P","D","D",19.29,5.43,".",".",".","."]
["chr1",237586436,237586436,"G","A","chr1_237586436_237586436_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon12:c.G893A:p.R298H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.473e-06,"d":"9.47E-06"},0,".",".",".","Uncertain significance","not_provided","rs754259295","D","D","D","D","D",34,5.42,".",".",".","."]
["chr1",237586546,237586546,"A","C","chr1_237586546_237586546_A_C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon12:c.A1003C:p.K335Q",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","D","P","D","D",27.6,5.52,".",".",".","."]
["chr1",237604628,237604628,"G","A","chr1_237604628_237604628_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon13:c.G1015A:p.D339N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","P","D","D",33,5.39,".",".",".","."]
["chr1",237608747,237608747,"C","T","chr1_237608747_237608747_C_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon14:c.C1217T:p.S406L",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.896e-05,"d":"1.90E-05"},0.0001,".",".",".",".",".","rs759830423","D","P","B","D","D",22.8,5.84,"CM126236","DM","High","Catecholaminergic polymorphic ventricular tachycardia:1217C>T"]
["chr1",237617852,237617852,"G","A","chr1_237617852_237617852_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon15:c.G1454A:p.R485Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":7.918e-05,"d":"7.92E-05"},0,".",".",".","Uncertain significance|Uncertain significance","not_provided|Ventricular_tachycardia","rs752144775","T","D","P","U","D",27.1,5.62,".",".",".","."]
["chr1",237619984,237619984,"G","A","chr1_237619984_237619984_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon16:c.G1561A:p.E521K",{"v":0.0049884881043745204,"d":"0.0049885"},13,2606,0.0001,0.0014,".",".",".","Uncertain significance","not_provided","rs759494098","D","P","P","U","D",26.5,4.6,".",".",".","."]
["chr1",237655169,237655169,"A","G","chr1_237655169_237655169_A_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon18:c.A1772G:p.E591G",{"v":0.0003863987635239567,"d":"0.0003864"},1,2588,".",".",".",".",".",".",".",".","D","P","P","D","D",29.7,6.02,".",".",".","."]
["chr1",237664020,237664020,"C","G","chr1_237664020_237664020_C_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon21:c.C2213G:p.A738G",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.757e-06,"d":"9.76E-06"},0.0001,".",".",".",".",".","rs758381482","T","P","B","D","D",22,5.69,".",".",".","."]
["chr1",237670035,237670035,"G","C","chr1_237670035_237670035_G_C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon23:c.G2639C:p.R880T",{"v":0.0003891050583657588,"d":"0.0003891"},1,2570,".",".",".",".",".",".",".",".","T","D","D","D","D",23.6,4.68,".",".",".","."]
["chr1",237729972,237729972,"C","T","chr1_237729972_237729972_C_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon28:c.C3320T:p.T1107M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0003,0,0.000405,".",".","Uncertain significance|Likely benign|Uncertain significance","not_specified|Catecholaminergic_polymorphic_ventricular_tachycardia|not_provided","rs200236750","T","P","B","N","N",24,5.41,"CM097952","DM","Low","Catecholaminergic polymorphic ventricular tachycardia:3320C>T"]
["chr1",237730010,237730010,"C","T","chr1_237730010_237730010_C_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon28:c.C3358T:p.P1120S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","P","D","D",28.3,5.41,".",".",".","."]
["chr1",237732616,237732616,"G","A","chr1_237732616_237732616_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon29:c.G3595A:p.D1199N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0,".",".",".",".",".","rs752376759","T","D","P","N","D",24.9,5.21,".",".",".","."]
["chr1",237753260,237753260,"C","A","chr1_237753260_237753260_C_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon30:c.C3766A:p.P1256T",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,{"v":9.563e-06,"d":"9.56E-06"},0.0001,".",".",".",".",".","rs769729405","D","B","B","D","D",23.8,5.64,"CM156353","DM","High","Catecholaminergic polymorphic ventricular tachycardia:3766C>A"]
["chr1",237754063,237754063,"G","A","chr1_237754063_237754063_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon31:c.G3931A:p.A1311T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.896e-05,"d":"1.90E-05"},0,8.2e-05,".",".",".",".","rs368635274","T","B","B","D","D",19.8,5.03,".",".",".","."]
["chr1",237765380,237765380,"A","G","chr1_237765380_237765380_A_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon35:c.A4652G:p.N1551S",{"v":0.008825786646201074,"d":"0.0088258"},23,2606,0.0003,0.0043,".",".",".","Likely benign","not_provided","rs185237690","T","P","B","D","D",23.9,5.53,"CM133734","DM","High","Catecholaminergic polymorphic ventricular tachycardia:4652A>G"]
["chr1",237777474,237777474,"A","C","chr1_237777474_237777474_A_C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon37:c.A5046C:p.E1682D",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":2.844e-05,"d":"2.84E-05"},0.0004,".",0.000199681,0.001,".",".","rs3766870","D","P","B","D","N",23.4,-7.65,".",".",".","."]
["chr1",237777847,237777847,"C","T","chr1_237777847_237777847_C_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon37:c.C5419T:p.R1807W",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.895e-05,"d":"1.90E-05"},0,".",".",".",".",".","rs752863160","D","D","D","D","D",33,4.7,".",".",".","."]
["chr1",237777856,237777856,"G","C","chr1_237777856_237777856_G_C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon37:c.G5428C:p.V1810L",{"v":0.004224270353302612,"d":"0.0042243"},11,2604,{"v":9.474e-05,"d":"9.47E-05"},0.0013,".",".",".",".",".","rs754364233","D","P","B","N","D",23.1,5.62,"CM122155","DM","High","Catecholaminergic polymorphic ventricular tachycardia:5428G>C"]
["chr1",237778030,237778030,"C","A","chr1_237778030_237778030_C_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon37:c.C5602A:p.L1868I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.899e-05,"d":"1.90E-05"},0.0003,".",".",".",".",".","rs768636940","T","B","B","N","N",6.454,2.67,".",".",".","."]
["chr1",237778084,237778084,"G","A","chr1_237778084_237778084_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon37:c.G5656A:p.G1886S",{"v":0.07878554957724827,"d":"0.0787855"},205,2602,0.0443,0.0803,0.062845,0.076278,0.0635,"Benign|Benign","Cardiomyopathy|not_specified","rs3766871","T","B","B","N","P",9.551,4.8,".",".",".","."]
["chr1",237780587,237780587,"T","C","chr1_237780587_237780587_T_C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon38:c.T5717C:p.M1906T",{"v":0.0009033423667570009,"d":"0.0009033"},2,2214,{"v":4.67e-05,"d":"4.67E-05"},0.0007,".",".",".","Uncertain significance","not_provided","rs748307254","D","D","D","D","D",25.9,5.39,".",".",".","."]
["chr1",237811911,237811911,"A","G","chr1_237811911_237811911_A_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon49:c.A7510G:p.T2504A",{"v":0.0003940110323089047,"d":"0.0003940"},1,2538,".",".",".",".",".",".",".",".","D","D","D","D","D",26.9,4.73,".",".",".","."]
["chr1",237813361,237813361,"G","A","chr1_237813361_237813361_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon50:c.G7697A:p.R2566Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.472e-06,"d":"9.47E-06"},0,".",".",".",".",".","rs532016557","T","D","D","D","D",35,5.58,".",".",".","."]
["chr1",237821282,237821282,"A","G","chr1_237821282_237821282_A_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon54:c.A8168G:p.K2723R",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,".",".",".",".",".",".",".",".","T","B","B","U","D",21.9,6.17,".",".",".","."]
["chr1",237821305,237821305,"A","-","chr1_237821305_237821305_A_-","RYR2","frameshift deletion","RYR2:NM_001035:exon54:c.8191delA:p.K2731fs",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",37,6.17,".",".",".","."]
["chr1",237824161,237824161,"G","T","chr1_237824161_237824161_G_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon56:c.G8350T:p.A2784S",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",24.4,5.46,".",".",".","."]
["chr1",237824200,237824200,"A","G","chr1_237824200_237824200_A_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon56:c.A8389G:p.S2797G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","D",14.34,4.3,".",".",".","."]
["chr1",237824230,237824230,"A","G","chr1_237824230_237824230_A_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon56:c.A8419G:p.I2807V",{"v":0.00422102839600921,"d":"0.0042210"},11,2606,".",".",".",".",".",".",".",".","T","P","B","D","D",17.1,5.46,".",".",".","."]
["chr1",237863693,237863693,"C","T","chr1_237863693_237863693_C_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon65:c.C9293T:p.T3098I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","U","D",32,4.87,".",".",".","."]
["chr1",237870314,237870314,"G","A","chr1_237870314_237870314_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon68:c.G9646A:p.E3216K",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.895e-05,"d":"1.90E-05"},0.0003,".",".",".",".",".","rs760965671","T","B","B","N","N",16.07,4.8,".",".",".","."]
["chr1",237870320,237870320,"A","T","chr1_237870320_237870320_A_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon68:c.A9652T:p.I3218F",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","B","D","D",27.3,5.72,".",".",".","."]
["chr1",237870333,237870333,"C","T","chr1_237870333_237870333_C_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon68:c.C9665T:p.A3222V",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","T","D","P","D","D",26.2,5.72,".",".",".","."]
["chr1",237870342,237870342,"G","A","chr1_237870342_237870342_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon68:c.G9674A:p.G3225D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","P","D","D",26,5.72,".",".",".","."]
["chr1",237870544,237870544,"G","C","chr1_237870544_237870544_G_C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon68:c.G9876C:p.E3292D",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".",".",".",".","T","B","B","D","D",15.32,0.587,".",".",".","."]
["chr1",237872827,237872827,"G","A","chr1_237872827_237872827_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon70:c.G10190A:p.R3397H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","D","D",28.6,5.5,".",".",".","."]
["chr1",237890426,237890426,"A","C","chr1_237890426_237890426_A_C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon76:c.A10765C:p.K3589Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","U","D",25,4.98,".",".",".","."]
["chr1",237893637,237893637,"A","T","chr1_237893637_237893637_A_T","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon77:c.A10916T:p.K3639I",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","T","P","B","D","D",24.6,5.52,".",".",".","."]
["chr1",237921003,237921003,"C","G","chr1_237921003_237921003_C_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon82:c.C11252G:p.T3751S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.898e-05,"d":"1.90E-05"},0.0003,".",".",".",".",".","rs772768256","T","B","B","U","N",20.9,4.32,".",".",".","."]
["chr1",237936856,237936856,"A","G","chr1_237936856_237936856_A_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon87:c.A11683G:p.K3895E",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","D","U","D",29.6,3.99,".",".",".","."]
["chr1",237947343,237947343,"A","C","chr1_237947343_237947343_A_C","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon90:c.A12331C:p.N4111H",{"v":0.0023023791250959325,"d":"0.0023024"},6,2606,{"v":2.861e-05,"d":"2.86E-05"},0.0004,".",0.000399361,0.002,".",".","rs192890834","T","B","B","D","D",0.866,4.47,".",".",".","."]
["chr1",237947530,237947530,"T","G","chr1_237947530_237947530_T_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon90:c.T12518G:p.I4173R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",26.1,5.54,".",".",".","."]
["chr1",237948187,237948187,"A","G","chr1_237948187_237948187_A_G","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon90:c.A13175G:p.K4392R",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,{"v":1.146e-05,"d":"1.15E-05"},0.0002,".",".",".",".",".","rs753733164","T","B","B","N","D",0.2,3.47,"CM148191","DM","High","Catecholaminergic polymorphic ventricular tachycardia:13175A>G"]
["chr1",237955507,237955507,"G","A","chr1_237955507_237955507_G_A","RYR2","nonsynonymous SNV","RYR2:NM_001035:exon94:c.G13666A:p.A4556T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.978e-05,"d":"2.98E-05"},0,7.9e-05,0.000199681,".","Uncertain significance,Uncertain significance","Ventricular_tachycardia,_polymorphic,not_provided","rs189345192","T","B","B","N","N",12.11,2.12,"CM056385","DM","High","Ventricular tachycardia  polymorphic:13666G>A"]
["chr2",21224808,21224808,"T","C","chr2_21224808_21224808_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.A13486G:p.R4496G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.446e-06,"d":"9.45E-06"},0.0001,".",".",".",".",".","rs781520074","T","P","B","N","N",11.92,1.72,".",".",".","."]
["chr2",21224853,21224853,"C","T","chr2_21224853_21224853_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.G13441A:p.A4481T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0231,0.0001,0.028525,0.0141773,".","Uncertain significance|Benign","not_specified|Familial_hypercholesterolemia","rs1801695","T","B","B","N","N",3.92,-0.996,".",".",".","."]
["chr2",21224963,21224963,"A","G","chr2_21224963_21224963_A_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.T13331C:p.L4444P",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.467e-06,"d":"9.47E-06"},0,".",".",".",".",".","rs752665378","T","P","B","N","N",17.12,4.24,".",".",".","."]
["chr2",21225196,21225196,"C","G","chr2_21225196_21225196_C_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.G13098C:p.E4366D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.518e-06,"d":"9.52E-06"},0.0001,".",".",".",".",".","rs777518990","T","B","B","N","N",0.003,-2.84,".",".",".","."]
["chr2",21225281,21225281,"C","T","chr2_21225281_21225281_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.G13013A:p.S4338N",{"v":0.2513430544896393,"d":"0.2513431"},655,2606,0.6971,0.2753,0.802972,0.629593,0.2798,"Likely benign","not_specified","rs1042034","T","B","B","N","P",0.005,1.61,".",".",".","."]
["chr2",21225308,21225308,"A","G","chr2_21225308_21225308_A_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.T12986C:p.I4329T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.832,-1.18,".",".",".","."]
["chr2",21225349,21225349,"T","G","chr2_21225349_21225349_T_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.A12945C:p.K4315N",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B","N","N",0.195,-0.108,".",".",".","."]
["chr2",21225435,21225435,"T","C","chr2_21225435_21225435_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.A12859G:p.I4287V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",6.334,1.14,".",".",".","."]
["chr2",21225485,21225485,"C","G","chr2_21225485_21225485_C_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.G12809C:p.R4270T",{"v":0.03012589928057554,"d":"0.0301259"},67,2224,0.0475,0.0283,0.049208,0.0626997,0.0327,".",".","rs1801702","T","B","B","N","N",0.188,-1.27,".",".",".","."]
["chr2",21225490,21225490,"C","T","chr2_21225490_21225490_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.G12804A:p.M4268I",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":9.431e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs776311715","T","B","B","N","N",6.022,0.008,".",".",".","."]
["chr2",21225713,21225713,"A","G","chr2_21225713_21225713_A_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.T12581C:p.I4194T",{"v":0.0023023791250959325,"d":"0.0023024"},6,2606,0.0002,0.002,".",0.000199681,0.001,".",".","rs570782024","D","B","B","N","N",7.556,3.64,".",".",".","."]
["chr2",21225753,21225753,"C","T","chr2_21225753_21225753_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.G12541A:p.E4181K",{"v":0.044512663085188024,"d":"0.0445127"},116,2606,0.1506,0.0486,0.166077,0.127796,0.0446,"Likely benign","not_specified","rs1042031","T","B","B","N","P",1.713,0.147,".",".",".","."]
["chr2",21225806,21225806,"C","A","chr2_21225806_21225806_C_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.G12488T:p.S4163I",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B","N","N",0.279,-11.8,".",".",".","."]
["chr2",21225816,21225816,"C","G","chr2_21225816_21225816_C_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon29:c.G12478C:p.G4160R",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B","N","N",5.411,1.36,".",".",".","."]
["chr2",21227149,21227149,"T","C","chr2_21227149_21227149_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon28:c.A12079G:p.S4027G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","N","N",9.705,2.08,".",".",".","."]
["chr2",21227212,21227212,"C","T","chr2_21227212_21227212_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon28:c.G12016A:p.V4006I",{"v":0.004604758250191865,"d":"0.0046048"},12,2606,0.0006,0.007,".",0.000798722,0.004,".",".","rs183117027","T","B","B","N","N",0.022,-2.56,".",".",".","."]
["chr2",21227512,21227512,"C","T","chr2_21227512_21227512_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon27:c.G11824A:p.A3942T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.428e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".",".","T","B","B","N","N",0.219,1.87,".",".",".","."]
["chr2",21228245,21228245,"G","A","chr2_21228245_21228245_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C11495T:p.S3832L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","N","N",13.19,4.51,".",".",".","."]
["chr2",21228378,21228378,"C","T","chr2_21228378_21228378_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G11362A:p.E3788K",{"v":0.005372217958557176,"d":"0.0053722"},14,2606,0.0001,0.0017,".",".",".",".",".","rs13306191","T","B","B","N","N",6.718,1.24,".",".",".","."]
["chr2",21228437,21228437,"A","G","chr2_21228437_21228437_A_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.T11303C:p.I3768T",{"v":0.002197802197802198,"d":"0.0021978"},4,1820,{"v":3.771e-05,"d":"3.77E-05"},0.0005,".",".",".",".",".","rs376825639","D","D","D","N","N",25.3,3.89,"CM104780","DM","High","Hypertriglyceridaemia:11303T>C"]
["chr2",21228599,21228599,"G","C","chr2_21228599_21228599_G_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C11141G:p.P3714R",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","P","P","N","N",22.7,3.64,".",".",".","."]
["chr2",21229422,21229422,"A","C","chr2_21229422_21229422_A_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.T10318G:p.F3440V",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".","rs13306192","D","D","P","D","N",23.5,3.33,".",".",".","."]
["chr2",21229457,21229457,"G","T","chr2_21229457_21229457_G_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C10283A:p.T3428N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.419e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs764056784","T","B","B","N","N",0.362,-0.549,".",".",".","."]
["chr2",21229480,21229480,"A","T","chr2_21229480_21229480_A_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.T10260A:p.N3420K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","P","N","N",14.99,2.98,".",".",".","."]
["chr2",21229647,21229647,"G","C","chr2_21229647_21229647_G_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C10093G:p.H3365D",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","D","D","P","N","N",24.9,5.63,".",".",".","."]
["chr2",21229685,21229685,"G","A","chr2_21229685_21229685_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C10055T:p.T3352I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.426e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs767624020","D","D","D","N","D",25.5,5.63,".",".",".","."]
["chr2",21229868,21229868,"C","T","chr2_21229868_21229868_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G9872A:p.R3291H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.885e-05,"d":"1.89E-05"},0,".",".",".",".",".","rs747787527","T","B","B","N","N",0.008,-9.6,".",".",".","."]
["chr2",21230046,21230046,"T","C","chr2_21230046_21230046_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A9694G:p.K3232E",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":8.536e-05,"d":"8.54E-05"},0.0011,".",0.000399361,0.002,".",".","rs544521341","T","B","B","N","N",2.595,0.637,".",".",".","."]
["chr2",21230108,21230108,"T","C","chr2_21230108_21230108_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A9632G:p.N3211S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.844e-05,"d":"2.84E-05"},0.0004,".",".",".",".",".","rs768051007","T","B","B","N","N",0.001,-2.8,".",".",".","."]
["chr2",21230249,21230249,"G","A","chr2_21230249_21230249_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C9491T:p.T3164M",{"v":0.0013489208633093526,"d":"0.0013489"},3,2224,0.0002,0.0006,7.7e-05,0.000599042,0.001,".",".","rs143269114","D","D","D","D","D",27.8,5.45,".",".",".","."]
["chr2",21230333,21230333,"C","T","chr2_21230333_21230333_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G9407A:p.R3136H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":5.654e-05,"d":"5.65E-05"},0.0003,".",0.000199681,".",".",".","rs199590149","T","B","B","N","N",1.39,1.68,".",".",".","."]
["chr2",21230523,21230523,"T","A","chr2_21230523_21230523_T_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A9217T:p.N3073Y",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","D","D","P","D","D",25.5,5.87,".",".",".","."]
["chr2",21230547,21230547,"T","C","chr2_21230547_21230547_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A9193G:p.T3065A",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,{"v":4.722e-05,"d":"4.72E-05"},0.0006,".",".",".",".",".","rs756723938","T","B","B","N","N",8.087,0.555,".",".",".","."]
["chr2",21230746,21230746,"-","C","chr2_21230746_21230746_-_C","APOB","frameshift insertion","APOB:NM_000384:exon26:c.8993dupG:p.G2998fs",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",35,5.87,".",".",".","."]
["chr2",21230849,21230849,"T","C","chr2_21230849_21230849_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A8891G:p.N2964S",{"v":0.0022482014388489208,"d":"0.0022482"},5,2224,{"v":6.599e-05,"d":"6.60E-05"},0.0006,".",".",".",".",".","rs776710122","T","B","B","N","N",0.017,-0.496,".",".",".","."]
["chr2",21230891,21230891,"A","G","chr2_21230891_21230891_A_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.T8849C:p.I2950T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":5.652e-05,"d":"5.65E-05"},0.0001,7.7e-05,0.000399361,0.001,".",".","rs141591543","D","B","B","N","N",0.476,4.57,".",".",".","."]
["chr2",21230914,21230914,"A","C","chr2_21230914_21230914_A_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.T8826G:p.H2942Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.419e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs778962767","D","P","B","N","D",23.3,-2.16,".",".",".","."]
["chr2",21231323,21231323,"A","C","chr2_21231323_21231323_A_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.T8417G:p.F2806C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",24.6,5.36,".",".",".","."]
["chr2",21231326,21231326,"T","C","chr2_21231326_21231326_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A8414G:p.N2805S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.006,-4.13,".",".",".","."]
["chr2",21231387,21231387,"T","G","chr2_21231387_21231387_T_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A8353C:p.N2785H",{"v":0.08480429777436685,"d":"0.0848043"},221,2606,0.0088,0.0608,0.000923,0.0117812,0.0417,"Benign","Familial_hypercholesterolemia","rs2163204","T","B","B","N","N",0.001,1.46,".",".",".","."]
["chr2",21231524,21231524,"G","A","chr2_21231524_21231524_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C8216T:p.P2739L",{"v":0.7471220260936301,"d":"0.7471220"},1947,2606,0.3011,0.7263,0.196525,0.366214,0.7192,"Likely benign","not_specified","rs676210","D","D","D","D","P",27.1,5.22,".",".",".","."]
["chr2",21231570,21231570,"G","A","chr2_21231570_21231570_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C8170T:p.P2724S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",24.8,5.22,".",".",".","."]
["chr2",21231629,21231629,"G","A","chr2_21231629_21231629_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C8111T:p.A2704V",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":3.768e-05,"d":"3.77E-05"},0.0003,".",0.000199681,0.001,".",".","rs201874707","D","D","P","N","N",13.72,3.42,".",".",".","."]
["chr2",21231639,21231639,"T","C","chr2_21231639_21231639_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A8101G:p.I2701V",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":9.42e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs774720452","T","B","B","N","N",0.001,-0.592,".",".",".","."]
["chr2",21231963,21231963,"T","C","chr2_21231963_21231963_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A7777G:p.I2593V",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":9.421e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs758579572","T","B","B","N","N",0.001,-5.99,".",".",".","."]
["chr2",21232011,21232011,"T","G","chr2_21232011_21232011_T_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A7729C:p.M2577L",{"v":0.0034535686876438986,"d":"0.0034536"},9,2606,0.0002,0.0023,".",0.000199681,0.001,".",".","rs200231583","T","B","B","N","N",0.001,-1.78,".",".",".","."]
["chr2",21232016,21232016,"T","A","chr2_21232016_21232016_T_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A7724T:p.K2575I",{"v":0.0034535686876438986,"d":"0.0034536"},9,2606,0.0002,0.0023,".",0.000199681,0.001,".",".","rs201152495","D","B","B","N","N",13.86,2.7,".",".",".","."]
["chr2",21232409,21232409,"C","T","chr2_21232409_21232409_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G7331A:p.R2444H",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,0.0002,0.0019,0.000154,0.00119808,0.003,".",".","rs200143030","T","B","B","N","N",3.461,-6.66,".",".",".","."]
["chr2",21232517,21232517,"G","A","chr2_21232517_21232517_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C7223T:p.S2408F",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,0.0002,0.0025,".",0.000399361,0.002,".",".","rs140027955","D","P","P","N","N",22.9,2.2,".",".",".","."]
["chr2",21232697,21232697,"T","C","chr2_21232697_21232697_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A7043G:p.Y2348C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.437e-06,"d":"9.44E-06"},0.0001,".",".",".",".",".","rs780043912","D","P","B","N","D",20.4,1.78,".",".",".","."]
["chr2",21232931,21232931,"T","C","chr2_21232931_21232931_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A6809G:p.K2270R",{"v":0.00045004500450045,"d":"0.0004500"},1,2222,".",".",".",".",".",".",".",".","T","B","B","N","N",0.002,1.64,".",".",".","."]
["chr2",21233012,21233014,"CTT","-","chr2_21233012_21233014_CTT_-","APOB","nonframeshift deletion","APOB:NM_000384:exon26:c.6726_6728del:p.2242_2243del",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",5.18,4.3,".",".",".","."]
["chr2",21233189,21233189,"T","C","chr2_21233189_21233189_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A6551G:p.Y2184C",{"v":0.0018001800180018,"d":"0.0018002"},4,2222,{"v":9.718e-05,"d":"9.72E-05"},0.0012,".",0.000199681,0.001,".",".","rs184512808","D","D","D","D","N",24.3,5.76,".",".",".","."]
["chr2",21233503,21233503,"T","G","chr2_21233503_21233503_T_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A6237C:p.E2079D",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":1.887e-05,"d":"1.89E-05"},0.0003,".",".",".",".",".","rs747979961","T","B","B","N","N",0.336,-2.6,".",".",".","."]
["chr2",21233546,21233546,"T","C","chr2_21233546_21233546_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A6194G:p.D2065G",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.887e-05,"d":"1.89E-05"},0.0003,".",".",".",".",".","rs764440678","D","P","B","N","D",24.5,5.14,".",".",".","."]
["chr2",21233646,21233646,"C","T","chr2_21233646_21233646_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G6094A:p.E2032K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","N","N",16.19,3.51,".",".",".","."]
["chr2",21233858,21233858,"C","A","chr2_21233858_21233858_C_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G5882T:p.S1961I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","B","N","N",21,-0.682,".",".",".","."]
["chr2",21234018,21234018,"C","T","chr2_21234018_21234018_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G5722A:p.D1908N",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":5.65e-05,"d":"5.65E-05"},0,".",".",".",".",".","rs751368655","T","D","P","N","D",17.85,4.79,".",".",".","."]
["chr2",21234094,21234094,"G","C","chr2_21234094_21234094_G_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C5646G:p.S1882R",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B","N","N",0.447,-5.7,".",".",".","."]
["chr2",21234194,21234194,"G","T","chr2_21234194_21234194_G_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C5546A:p.A1849E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","N",24.5,5.36,".",".",".","."]
["chr2",21234446,21234446,"T","G","chr2_21234446_21234446_T_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.A5294C:p.D1765A",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B","N","N",11.62,5.95,".",".",".","."]
["chr2",21234543,21234543,"G","C","chr2_21234543_21234543_G_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C5197G:p.Q1733E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","N","N",4.795,1.56,".",".",".","."]
["chr2",21234674,21234674,"C","T","chr2_21234674_21234674_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G5066A:p.R1689H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0013,0,0.001999,0.000399361,".","Likely benign","Familial_hypercholesterolemia","rs151009667","D","D","D","D","D",27.8,5.97,"CM104751","DM","Low","Hypertriglyceridaemia:5066G>A"]
["chr2",21234675,21234675,"G","A","chr2_21234675_21234675_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.C5065T:p.R1689C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.884e-05,"d":"1.88E-05"},0.0001,".",".",".",".",".","rs780820172","D","D","D","D","D",28.2,5.97,".",".",".","."]
["chr2",21235202,21235202,"C","T","chr2_21235202_21235202_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon26:c.G4538A:p.R1513Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0002,0.0011,".",".",".",".",".","rs780817600","T","B","B","N","N",1.781,3.53,".",".",".","."]
["chr2",21236085,21236085,"C","T","chr2_21236085_21236085_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon25:c.G4163A:p.R1388H",{"v":0.013534416086620264,"d":"0.0135344"},35,2586,0.0019,0.0237,0.000384,0.00399361,0.0198,".",".","rs13306187","T","P","B","N","N",6.365,-10.5,".",".",".","."]
["chr2",21236091,21236091,"C","T","chr2_21236091_21236091_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon25:c.G4157A:p.R1386Q",{"v":0.00038580246913580245,"d":"0.0003858"},1,2592,0.0002,0.0024,7.7e-05,".",".",".",".","rs145007060","T","B","B","N","N",0.74,-2.58,".",".",".","."]
["chr2",21236105,21236105,"G","T","chr2_21236105_21236105_G_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon25:c.C4143A:p.D1381E",{"v":0.006917755572636433,"d":"0.0069178"},18,2602,0.0001,0.0018,".",".",".",".",".","rs754597311","T","B","B","N","N",9.91,-3.36,".",".",".","."]
["chr2",21236313,21236313,"A","G","chr2_21236313_21236313_A_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon25:c.T3935C:p.M1312T",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0004,".",".",".",".",".","rs763989940","D","P","B","N","N",20.4,5.04,".",".",".","."]
["chr2",21238034,21238034,"T","C","chr2_21238034_21238034_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon23:c.A3607G:p.S1203G",{"v":0.0034535686876438986,"d":"0.0034536"},9,2606,0.0001,0.0015,".",0.000599042,0.003,".",".","rs78875649","D","P","B","N","N",0.014,3.09,".",".",".","."]
["chr2",21238346,21238346,"C","T","chr2_21238346_21238346_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon22:c.G3404A:p.S1135N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.766e-05,"d":"3.77E-05"},0.0004,".",".",".",".",".","rs778519921","D","D","P","D","N",26.7,4.56,".",".",".","."]
["chr2",21238368,21238368,"G","A","chr2_21238368_21238368_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon22:c.C3382T:p.R1128C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0,0.000692,0.000399361,".",".",".","rs72653076","D","D","P","D","D",34,5.43,".",".",".","."]
["chr2",21239342,21239342,"T","C","chr2_21239342_21239342_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon21:c.A3301G:p.I1101V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0.0017,".",".",".",".",".","rs748396067","T","B","B","D","D",11.3,3.68,".",".",".","."]
["chr2",21241869,21241869,"G","C","chr2_21241869_21241869_G_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon20:c.C3116G:p.A1039G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","D",27.4,4.3,".",".",".","."]
["chr2",21241898,21241898,"C","A","chr2_21241898_21241898_C_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon20:c.G3087T:p.L1029F",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",24.3,2.45,".",".",".","."]
["chr2",21242731,21242731,"G","A","chr2_21242731_21242731_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon19:c.C2863T:p.P955S",{"v":0.013814274750575594,"d":"0.0138143"},36,2606,0.0002,0.0032,".",0.00179712,0.0089,".",".","rs13306206","T","B","B","N","N",17.77,3.16,".",".",".","."]
["chr2",21247843,21247843,"G","T","chr2_21247843_21247843_G_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon16:c.C2398A:p.L800M",{"v":0.00422102839600921,"d":"0.0042210"},11,2606,0.0001,0.0014,".",0.000199681,0.001,".",".","rs183950016","T","P","P","N","D",13.41,1.71,".",".",".","."]
["chr2",21247879,21247879,"T","C","chr2_21247879_21247879_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon16:c.A2362G:p.S788G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","N","N",14.2,1.96,".",".",".","."]
["chr2",21250864,21250864,"G","A","chr2_21250864_21250864_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon14:c.C1903T:p.R635W",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":3.768e-05,"d":"3.77E-05"},0.0001,".",".",".",".",".","rs548108916","D","D","D","N","D",33,4,".",".",".","."]
["chr2",21250887,21250887,"A","G","chr2_21250887_21250887_A_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon14:c.T1880C:p.V627A",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","N","N",10.13,3.22,".",".",".","."]
["chr2",21250914,21250914,"G","A","chr2_21250914_21250914_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon14:c.C1853T:p.A618V",{"v":0.8702993092862624,"d":"0.8702993"},2268,2606,0.4904,0.8571,0.365524,0.485024,0.8641,"Likely benign","not_specified","rs679899","T","D","D","D","P",26.6,5.73,".",".",".","."]
["chr2",21251380,21251380,"C","G","chr2_21251380_21251380_C_G","APOB","nonsynonymous SNV","APOB:NM_000384:exon13:c.G1648C:p.D550H",{"v":0.008448540706605223,"d":"0.0084485"},22,2604,0.0002,0.0032,".",0.000599042,0.003,".",".","rs145862664","D","B","B","N","N",16.36,-4.84,".",".",".","."]
["chr2",21252534,21252534,"G","A","chr2_21252534_21252534_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon12:c.C1594T:p.R532W",{"v":0.12125863392171911,"d":"0.1212586"},316,2606,0.0118,0.1413,0.000231,0.0273562,0.128,".",".","rs13306194","D","D","D","D","D",27.4,-3.76,".",".",".","."]
["chr2",21252807,21252807,"C","T","chr2_21252807_21252807_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon11:c.G1433A:p.C478Y",{"v":0.0023023791250959325,"d":"0.0023024"},6,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0004,".",".",".",".",".","rs765052849","D","D","D","D","D",27,5.25,".",".",".","."]
["chr2",21255280,21255280,"G","A","chr2_21255280_21255280_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon10:c.C1298T:p.A433V",{"v":0.0011529592621060721,"d":"0.0011530"},3,2602,0.0002,0.002,".",0.000199681,0.001,"Uncertain significance","not_provided","rs13306190","D","D","D","N","D",32,5.26,".",".",".","."]
["chr2",21255371,21255371,"C","A","chr2_21255371_21255371_C_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon10:c.G1207T:p.A403S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0003,".",".",".",".",".","rs755698154","T","B","B","N","N",17.65,4.53,".",".",".","."]
["chr2",21260063,21260063,"G","A","chr2_21260063_21260063_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon6:c.C602T:p.T201I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","N","N",22.5,5.52,".",".",".","."]
["chr2",21260084,21260084,"G","A","chr2_21260084_21260084_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon6:c.C581T:p.T194M",{"v":0.044896392939370686,"d":"0.0448964"},117,2606,0.0049,0.0537,0.000384,0.0141773,0.0675,".",".","rs13306198","D","D","P","N","N",24.2,4.62,".",".",".","."]
["chr2",21260091,21260091,"C","T","chr2_21260091_21260091_C_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon6:c.G574A:p.V192I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.629e-05,"d":"6.63E-05"},0,7.7e-05,".",".",".",".","rs200662943","T","D","P","N","N",12.87,4.65,".",".",".","."]
["chr2",21260919,21260919,"G","T","chr2_21260919_21260919_G_T","APOB","nonsynonymous SNV","APOB:NM_000384:exon5:c.C448A:p.P150T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","D","D",22.7,5.69,".",".",".","."]
["chr2",21263900,21263900,"G","A","chr2_21263900_21263900_G_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon4:c.C293T:p.T98I",{"v":0.10491929285165258,"d":"0.1049193"},273,2602,0.2585,0.1208,0.2505,0.169329,0.1151,"Likely benign","not_specified","rs1367117","T","B","B","N","P",23,2.93,".",".",".","."]
["chr2",21263905,21263905,"C","A","chr2_21263905_21263905_C_A","APOB","nonsynonymous SNV","APOB:NM_000384:exon4:c.G288T:p.Q96H",{"v":0.0011529592621060721,"d":"0.0011530"},3,2602,0.0004,0.0049,".",0.00219649,0.0109,".",".","rs186544754","T","B","B","N","D",23.9,2.01,".",".",".","."]
["chr2",21263910,21263910,"T","C","chr2_21263910_21263910_T_C","APOB","nonsynonymous SNV","APOB:NM_000384:exon4:c.A283G:p.S95G",{"v":0.0007692307692307692,"d":"0.0007692"},2,2600,{"v":9.825e-06,"d":"9.83E-06"},0.0001,".",0.000199681,0.001,".",".","rs200318200","T","P","B","N","D",19.86,4.86,".",".",".","."]
["chr2",21266775,21266783,"GCAGCGCCA","-","chr2_21266775_21266783_GCAGCGCCA_-","APOB","nonframeshift deletion","APOB:NM_000384:exon1:c.35_43del:p.12_15del",{"v":0.1746031746031746,"d":"0.1746032"},66,378,0.0832,0.0435,0.135714,0.221246,0.1815,".",".","rs17240441",".",".",".",".",".",8.651,1.61,".",".",".","."]
["chr2",47630344,47630344,"C","A","chr2_47630344_47630344_C_A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon1:c.C14A:p.P5Q",{"v":0.002281021897810219,"d":"0.0022810"},5,2192,{"v":8.135e-05,"d":"8.14E-05"},0.001,".",0.000199681,0.001,"Uncertain significance|Uncertain significance,Uncertain significance","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome,Hereditary_cancer-predisposing_syndrome","rs56170584","D","D","D","D","D",34,5.48,"HM030030","DM","High","Colorectal cancer  non-polyposis:14C>A"]
["chr2",47630353,47630353,"C","T","chr2_47630353_47630353_C_T","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon1:c.C23T:p.T8M",{"v":0.014259429622815088,"d":"0.0142594"},31,2174,0.004,0.0139,0.000154,0.00519169,0.0119,"Benign|not provided|Benign|Likely benign","Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I","rs17217716","T","D","B","D","D",23.5,4.41,"CM001245","DM","High","Colorectal cancer  non-polyposis:23C>T"]
["chr2",47630448,47630448,"G","A","chr2_47630448_47630448_G_A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon1:c.G118A:p.G40S",{"v":0.0013192612137203166,"d":"0.0013193"},1,758,{"v":1.633e-05,"d":"1.63E-05"},0.0002,".",".",".","Uncertain significance","Lynch_syndrome","rs63751260","T","B","B","D","D",21,5.49,"CM034046","DM","High","Colorectal cancer:118G>A"]
["chr2",47635601,47635603,"TCT","-","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",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,0.0002,0.0004,0.004394,0.000599042,0.001,"Benign|other","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs267607918",".",".",".",".",".",14.1,5.31,"CD011637","DM","High","Colorectal cancer  non-polyposis:279_281delTCT"]
["chr2",47635638,47635638,"A","T","chr2_47635638_47635638_A_T","MSH2","stopgain","MSH2:NM_000251:exon2:c.A310T:p.K104X,MSH2:NM_001258281:exon3:c.A112T:p.K38X",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".",".",".",".",".",".",".","D","A",35,4.13,".",".",".","."]
["chr2",47637371,47637371,"A","G","chr2_47637371_47637371_A_G","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon3:c.A505G:p.I169V,MSH2:NM_001258281:exon4:c.A307G:p.I103V",{"v":0.00422102839600921,"d":"0.0042210"},11,2606,0.0006,0.0078,".",0.000599042,0.003,"Likely benign|Likely benign","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs63750716","T","B","B","N","N",0.011,-1.25,"CM052254","DM","Low","Colorectal cancer  non-polyposis:505A>G"]
["chr2",47643496,47643496,"C","T","chr2_47643496_47643496_C_T","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon6:c.C1004T:p.T335I,MSH2:NM_001258281:exon7:c.C806T:p.T269I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance","Lynch_syndrome","rs63750602","D","D","D","D","D",33,5.62,"CM015037","DM","Low","Colorectal cancer  non-polyposis:1004C>T"]
["chr2",47656934,47656936,"AAG","-","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",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",23,5.59,".",".",".","."]
["chr2",47656948,47656948,"C","T","chr2_47656948_47656948_C_T","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon7:c.C1144T:p.R382C,MSH2:NM_001258281:exon8:c.C946T:p.R316C",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":9.424e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs752373431","D","D","D","D","D",35,5.69,".",".",".","."]
["chr2",47656972,47656972,"C","T","chr2_47656972_47656972_C_T","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon7:c.C1168T:p.L390F,MSH2:NM_001258281:exon8:c.C970T:p.L324F",{"v":0.03491941673062164,"d":"0.0349194"},91,2606,0.0018,0.023,7.7e-05,0.00279553,0.0139,"Uncertain significance|Benign|Benign|other","not_provided|Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs17224367","D","B","B","D","D",24.3,4.62,"CM983445","DM","Low","Colorectal cancer  non-polyposis:1168C>T"]
["chr2",47657012,47657012,"A","G","chr2_47657012_47657012_A_G","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon7:c.A1208G:p.D403G,MSH2:NM_001258281:exon8:c.A1010G:p.D337G",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".",".",".",".","D","D","D","D","D",29,5.45,".",".",".","."]
["chr2",47657059,47657059,"C","A","chr2_47657059_47657059_C_A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon7:c.C1255A:p.Q419K,MSH2:NM_001258281:exon8:c.C1057A:p.Q353K",{"v":0.012658227848101266,"d":"0.0126582"},32,2528,0.0007,0.0093,".",0.000798722,0.004,"Likely benign|not provided|Likely benign,Pathogenic|Pathogenic","Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome,Lynch_syndrome|not_provided","rs63750006","T","B","B","N","N",10.95,2.45,"CM034047","DM","High","Colorectal cancer:1255C>A"]
["chr2",47672719,47672719,"G","A","chr2_47672719_47672719_G_A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon8:c.G1309A:p.V437M,MSH2:NM_001258281:exon9:c.G1111A:p.V371M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","P","N","N",24.2,5.56,".",".",".","."]
["chr2",47702290,47702290,"A","G","chr2_47702290_47702290_A_G","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon12:c.A1886G:p.Q629R,MSH2:NM_001258281:exon13:c.A1688G:p.Q563R",{"v":0.020337682271680736,"d":"0.0203377"},53,2606,0.0014,0.0181,".",0.00219649,0.0089,"Benign|not provided|Benign","Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs61756468","T","B","B","N","N",11.73,2.3,"CM015038","DM","Low","Colorectal cancer  non-polyposis:1886A>G"]
["chr2",47702367,47702367,"G","A","chr2_47702367_47702367_G_A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon12:c.G1963A:p.V655I,MSH2:NM_001258281:exon13:c.G1765A:p.V589I",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,0.0002,0.0001,".",0.000199681,".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs549467183","T","B","B","N","D",10.82,2.78,".",".",".","."]
["chr2",47703564,47703564,"G","A","chr2_47703564_47703564_G_A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon13:c.G2064A:p.M688I,MSH2:NM_001258281:exon14:c.G1866A:p.M622I",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,{"v":4.709e-05,"d":"4.71E-05"},0.0006,".",0.000199681,0.001,"Uncertain significance|Uncertain significance","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs63750790","D","D","D","D","D",32,6.08,"CM001246","DM","High","Colorectal cancer  non-polyposis:2064G>A"]
["chr2",47703697,47703697,"G","A","chr2_47703697_47703697_G_A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon13:c.G2197A:p.A733T,MSH2:NM_001258281:exon14:c.G1999A:p.A667T",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,{"v":5.65e-05,"d":"5.65E-05"},0.0004,".",".",".","Uncertain significance","Lynch_syndrome","rs772662439","D","D","D","D","D",31,5.28,".",".",".","."]
["chr2",47703703,47703703,"A","G","chr2_47703703_47703703_A_G","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon13:c.A2203G:p.I735V,MSH2:NM_001258281:exon14:c.A2005G:p.I669V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":8.476e-05,"d":"8.48E-05"},0.0001,0.000231,0.000199681,0.001,"Uncertain significance","Ovarian_cancer","rs2229061","D","D","D","D","D",26.1,6.17,"CM1210412","DM","High","Ovarian cancer:2203A>G"]
["chr2",47705430,47705430,"T","A","chr2_47705430_47705430_T_A","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon14:c.T2230A:p.L744I,MSH2:NM_001258281:exon15:c.T2032A:p.L678I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","D",27.2,1.44,".",".",".","."]
["chr2",47707885,47707885,"C","T","chr2_47707885_47707885_C_T","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon15:c.C2509T:p.P837S,MSH2:NM_001258281:exon16:c.C2311T:p.P771S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",34,5.86,".",".",".","."]
["chr2",47709993,47709993,"A","T","chr2_47709993_47709993_A_T","MSH2","nonsynonymous SNV","MSH2:NM_000251:exon16:c.A2710T:p.I904F,MSH2:NM_001258281:exon17:c.A2512T:p.I838F",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","P","B","D","D",20.7,4.21,".",".",".","."]
["chr2",47710068,47710068,"C","T","chr2_47710068_47710068_C_T","MSH2","stopgain","MSH2:NM_000251:exon16:c.C2785T:p.R929X,MSH2:NM_001258281:exon17:c.C2587T:p.R863X",{"v":0.0003875968992248062,"d":"0.0003876"},1,2580,{"v":9e-05,"d":"9.00E-05"},0.0012,".",0.000199681,0.001,"Pathogenic","Lynch_syndrome","rs551060742",".",".",".","D","D",37,2.62,"CM1110528","DM","High","Colorectal cancer  non-polyposis:2785C>T"]
["chr2",48010436,48010436,"A","C","chr2_48010436_48010436_A_C","MSH6","nonsynonymous SNV","MSH6:NM_000179:exon1:c.A64C:p.K22Q,MSH6:NM_001281492:exon1:c.A64C:p.K22Q",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","D","B","B","N","N",14.73,0.168,".",".",".","."]
["chr2",48010488,48010488,"G","A","chr2_48010488_48010488_G_A","MSH6","nonsynonymous SNV","MSH6:NM_000179:exon1:c.G116A:p.G39E,MSH6:NM_001281492:exon1:c.G116A:p.G39E",{"v":0.2896396396396396,"d":"0.2896396"},643,2220,0.214,0.2892,0.17965,0.200879,0.2758,"Benign|Benign|Benign|Benign|Benign","Lynch_syndrome|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I","rs1042821","T","B","B","N","P",0.281,2.63,".",".",".","."]
["chr2",48010517,48010517,"G","A","chr2_48010517_48010517_G_A","MSH6","nonsynonymous SNV","MSH6:NM_000179:exon1:c.G145A:p.A49T,MSH6:NM_001281492:exon1:c.G145A:p.A49T",{"v":0.00045248868778280545,"d":"0.0004525"},1,2210,{"v":1.987e-05,"d":"1.99E-05"},0,".",".",".",".",".","rs745642001","T","B","B","N","N",18.55,4.78,".",".",".","."]
["chr2",48025850,48025850,"G","A","chr2_48025850_48025850_G_A","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.G338A:p.R113H,MSH6:NM_000179:exon4:c.G728A:p.R243H",{"v":0.0003875968992248062,"d":"0.0003876"},1,2580,{"v":9.43e-06,"d":"9.43E-06"},0,7.7e-05,".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs370157832","T","P","B","N","N",25,3.67,".",".",".","."]
["chr2",48025852,48025852,"C","G","chr2_48025852_48025852_C_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.C340G:p.Q114E,MSH6:NM_000179:exon4:c.C730G:p.Q244E",{"v":0.0003863987635239567,"d":"0.0003864"},1,2588,".",".",".",".",".",".",".",".","T","B","B","N","N",9.378,4.59,".",".",".","."]
["chr2",48026185,48026185,"G","A","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",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":8.48e-05,"d":"8.48E-05"},0.001,".",".",".","not provided|Uncertain significance","not_specified|Hereditary_cancer-predisposing_syndrome","rs587778531","T","B","B","N","D",13.67,2.61,"CM1511870","DM","Low","Thyroid cancer  non-medullary:1063G>A"]
["chr2",48026196,48026196,"C","G","chr2_48026196_48026196_C_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.C684G:p.D228E,MSH6:NM_001281493:exon3:c.C168G:p.D56E,MSH6:NM_000179:exon4:c.C1074G:p.D358E,MSH6:NM_001281494:exon4:c.C168G:p.D56E",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":9.421e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs760311819","T","B","B","N","N",1.13,-2.11,".",".",".","."]
["chr2",48026306,48026306,"C","T","chr2_48026306_48026306_C_T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.C794T:p.T265I,MSH6:NM_001281493:exon3:c.C278T:p.T93I,MSH6:NM_000179:exon4:c.C1184T:p.T395I,MSH6:NM_001281494:exon4:c.C278T:p.T93I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.423e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs767658494","D","D","D","D","D",25.9,4.63,".",".",".","."]
["chr2",48026333,48026333,"A","G","chr2_48026333_48026333_A_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.A821G:p.N274S,MSH6:NM_001281493:exon3:c.A305G:p.N102S,MSH6:NM_000179:exon4:c.A1211G:p.N404S,MSH6:NM_001281494:exon4:c.A305G:p.N102S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs768740986","T","B","B","D","D",18.99,4.63,".",".",".","."]
["chr2",48026381,48026381,"A","T","chr2_48026381_48026381_A_T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.A869T:p.N290I,MSH6:NM_001281493:exon3:c.A353T:p.N118I,MSH6:NM_000179:exon4:c.A1259T:p.N420I,MSH6:NM_001281494:exon4:c.A353T:p.N118I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","D","D",23.1,4.45,".",".",".","."]
["chr2",48026782,48026782,"C","T","chr2_48026782_48026782_C_T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.C1270T:p.R424C,MSH6:NM_001281493:exon3:c.C754T:p.R252C,MSH6:NM_000179:exon4:c.C1660T:p.R554C,MSH6:NM_001281494:exon4:c.C754T:p.R252C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.448e-06,"d":"9.45E-06"},0,".",".",".",".",".","rs775716798","T","D","P","D","N",24.5,3.54,".",".",".","."]
["chr2",48026851,48026851,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance|Uncertain significance","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs542838372","T","P","B","D","D",34,5.04,"CM148294","DM","Low","Lynch syndrome:1729C>T"]
["chr2",48027059,48027059,"A","G","chr2_48027059_48027059_A_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.A1547G:p.K516R,MSH6:NM_001281493:exon3:c.A1031G:p.K344R,MSH6:NM_000179:exon4:c.A1937G:p.K646R,MSH6:NM_001281494:exon4:c.A1031G:p.K344R",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":4.718e-05,"d":"4.72E-05"},0.0006,".",0.000199681,0.001,".",".","rs201096652","T","P","P","N","D",0.048,3.41,".",".",".","."]
["chr2",48027295,48027295,"A","G","chr2_48027295_48027295_A_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.A1783G:p.I595V,MSH6:NM_001281493:exon3:c.A1267G:p.I423V,MSH6:NM_000179:exon4:c.A2173G:p.I725V,MSH6:NM_001281494:exon4:c.A1267G:p.I423V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0,0.000231,".",".","Uncertain significance|Uncertain significance","Hereditary_cancer-predisposing_syndrome|Lynch_syndrome","rs148898662","T","B","B","N","D",0.001,-9.72,".",".",".","."]
["chr2",48027544,48027544,"G","T","chr2_48027544_48027544_G_T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.G2032T:p.V678F,MSH6:NM_001281493:exon3:c.G1516T:p.V506F,MSH6:NM_000179:exon4:c.G2422T:p.V808F,MSH6:NM_001281494:exon4:c.G1516T:p.V506F",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","D",24,3.58,".",".",".","."]
["chr2",48027625,48027625,"C","G","chr2_48027625_48027625_C_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.C2113G:p.Q705E,MSH6:NM_001281493:exon3:c.C1597G:p.Q533E,MSH6:NM_000179:exon4:c.C2503G:p.Q835E,MSH6:NM_001281494:exon4:c.C1597G:p.Q533E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Pathogenic","Lynch_syndrome","rs63751321","T","B","B","D","D",22.2,5.66,".",".",".","."]
["chr2",48027677,48027677,"A","G","chr2_48027677_48027677_A_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.A2165G:p.K722R,MSH6:NM_001281493:exon3:c.A1649G:p.K550R,MSH6:NM_000179:exon4:c.A2555G:p.K852R,MSH6:NM_001281494:exon4:c.A1649G:p.K550R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","P","D","D",24.6,4.5,".",".",".","."]
["chr2",48027683,48027683,"A","T","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",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,0.0004,0.0017,0.000385,0.000399361,0.001,"Uncertain significance|not provided|Uncertain significance|Uncertain significance","Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|Colorectal_cancer","rs34374438","D","D","D","N","D",22.3,4.48,"CM015302","DM","High","Colorectal cancer:2561A>T"]
["chr2",48027790,48027790,"G","A","chr2_48027790_48027790_G_A","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon2:c.G2278A:p.V760I,MSH6:NM_001281493:exon3:c.G1762A:p.V588I,MSH6:NM_000179:exon4:c.G2668A:p.V890I,MSH6:NM_001281494:exon4:c.G1762A:p.V588I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.119,0.541,".",".",".","."]
["chr2",48030612,48030612,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0.0004,".",".",".","Uncertain significance|Likely pathogenic","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs63750617","D","D","P","D","D",32,5.37,"CM045069","DM","Low","Colorectal cancer:3226C>T"]
["chr2",48030630,48030630,"C","T","chr2_48030630_48030630_C_T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon3:c.C2854T:p.P952S,MSH6:NM_001281493:exon4:c.C2338T:p.P780S,MSH6:NM_000179:exon5:c.C3244T:p.P1082S,MSH6:NM_001281494:exon5:c.C2338T:p.P780S",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":5.653e-05,"d":"5.65E-05"},0.0008,".",0.000599042,0.003,"Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs186240214","T","P","B","D","D",26.1,5.37,".",".",".","."]
["chr2",48030631,48030631,"C","T","chr2_48030631_48030631_C_T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon3:c.C2855T:p.P952L,MSH6:NM_001281493:exon4:c.C2339T:p.P780L,MSH6:NM_000179:exon5:c.C3245T:p.P1082L,MSH6:NM_001281494:exon5:c.C2339T:p.P780L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0.0004,7.7e-05,0.000399361,0.002,"Uncertain significance|Uncertain significance|not provided","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified","rs191109849","D","B","B","D","D",34,5.37,".",".",".","."]
["chr2",48030642,48030642,"C","G","chr2_48030642_48030642_C_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon3:c.C2866G:p.P956A,MSH6:NM_001281493:exon4:c.C2350G:p.P784A,MSH6:NM_000179:exon5:c.C3256G:p.P1086A,MSH6:NM_001281494:exon5:c.C2350G:p.P784A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.884e-05,"d":"1.88E-05"},0.0001,".",".",".",".",".","rs756108143","T","B","B","N","N",0.003,1.31,".",".",".","."]
["chr2",48032098,48032098,"A","T","chr2_48032098_48032098_A_T","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon4:c.A3098T:p.E1033V,MSH6:NM_001281493:exon5:c.A2582T:p.E861V,MSH6:NM_000179:exon6:c.A3488T:p.E1163V,MSH6:NM_001281494:exon6:c.A2582T:p.E861V",{"v":0.013814274750575594,"d":"0.0138143"},36,2606,0.0012,0.0141,".",0.00279553,0.0139,"Likely benign|Uncertain significance|Benign","Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs63750252","T","P","B","D","D",27.4,5.23,"CM042750","DM","Low","Colorectal cancer  non-polyposis:3488A>T"]
["chr2",48033385,48033385,"C","G","chr2_48033385_48033385_C_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon6:c.C3299G:p.A1100G,MSH6:NM_001281493:exon7:c.C2783G:p.A928G,MSH6:NM_000179:exon8:c.C3689G:p.A1230G,MSH6:NM_001281494:exon8:c.C2783G:p.A928G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.435e-06,"d":"9.44E-06"},0.0001,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs587782117","D","D","D","D","D",33,5.5,".",".",".","."]
["chr2",48033468,48033468,"C","G","chr2_48033468_48033468_C_G","MSH6","nonsynonymous SNV","MSH6:NM_001281492:exon6:c.C3382G:p.Q1128E,MSH6:NM_001281493:exon7:c.C2866G:p.Q956E,MSH6:NM_000179:exon8:c.C3772G:p.Q1258E,MSH6:NM_001281494:exon8:c.C2866G:p.Q956E",{"v":0.002686108979278588,"d":"0.0026861"},7,2606,{"v":6.599e-05,"d":"6.60E-05"},0.0008,".",0.000199681,0.001,"Pathogenic","Lynch_syndrome","rs63750554","T","B","B","N","D",10.66,4.59,".",".",".","."]
["chr2",48033981,48033981,"-","TTGA","chr2_48033981_48033981_-_TTGA","MSH6","frameshift insertion","MSH6:NM_001281492:exon8:c.3675_3676insTTGA:p.T1225fs,MSH6:NM_001281493:exon9:c.3159_3160insTTGA:p.T1053fs,MSH6:NM_000179:exon10:c.4065_4066insTTGA:p.T1355fs,MSH6:NM_001281494:exon10:c.3159_3160insTTGA:p.T1053fs",{"v":0.02340752110514198,"d":"0.0234075"},61,2606,0.0024,0.0319,".",0.00798722,0.0387,"Likely benign|Likely benign","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs267608142",".",".",".",".",".",33,3.78,".",".",".","."]
["chr2",189849945,189849945,"A","T","chr2_189849945_189849945_A_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon3:c.A305T:p.Q102L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.46e-06,"d":"9.46E-06"},0.0001,".",".",".",".",".","rs748033086","T","B","B","N","N",12.23,-3.52,".",".",".","."]
["chr2",189852820,189852820,"C","T","chr2_189852820_189852820_C_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon6:c.C542T:p.P181L",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.896e-05,"d":"1.90E-05"},0.0003,".",".",".",".",".","rs746628029","T","D","P","D","D",23.2,5.43,".",".",".","."]
["chr2",189856446,189856446,"G","T","chr2_189856446_189856446_G_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon13:c.G949T:p.A317S",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","D","D",15.33,5.79,".",".",".","."]
["chr2",189857625,189857625,"C","T","chr2_189857625_189857625_C_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon15:c.C1009T:p.P337S",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","D","P","D","D",23,5.8,".",".",".","."]
["chr2",189861158,189861158,"C","T","chr2_189861158_189861158_C_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon24:c.C1697T:p.P566L",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,0.0003,0.0034,".",0.00119808,0.006,".",".","rs150543864","T","D","D","N","D",27.6,5.74,".",".",".","."]
["chr2",189864080,189864080,"G","A","chr2_189864080_189864080_G_A","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon30:c.G2092A:p.A698T",{"v":0.26497695852534564,"d":"0.2649770"},690,2604,0.327,0.3142,0.213901,0.21845,0.2331,"Benign|Benign|Benign","COLLAGEN_TYPE_III_POLYMORPHISM|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified","rs1800255","T","B","B","N","P",22.9,0.873,".",".",".","."]
["chr2",189864199,189864199,"G","T","chr2_189864199_189864199_G_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon31:c.G2125T:p.A709S",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":3.768e-05,"d":"3.77E-05"},0.0005,".",0.000199681,0.001,".",".","rs201468881","T","B","B","N","N",0.315,-5.24,".",".",".","."]
["chr2",189864226,189864226,"G","T","chr2_189864226_189864226_G_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon31:c.G2152T:p.A718S",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.884e-05,"d":"1.88E-05"},0.0003,".",".",".",".",".","rs748020035","T","B","B","N","N",0.007,-10.7,".",".",".","."]
["chr2",189864227,189864227,"C","T","chr2_189864227_189864227_C_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon31:c.C2153T:p.A718V",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.884e-05,"d":"1.88E-05"},0.0003,".",".",".",".",".","rs769458760","T","B","B","N","N",18.42,-0.036,".",".",".","."]
["chr2",189867696,189867696,"C","A","chr2_189867696_189867696_C_A","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon36:c.C2461A:p.P821T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","D","D",23.2,5.39,".",".",".","."]
["chr2",189869088,189869088,"A","C","chr2_189869088_189869088_A_C","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon40:c.A2929C:p.K977Q",{"v":0.00045413260672116256,"d":"0.0004541"},1,2202,".",".",".",".",".",".",".",".","T","D","D","N","D",23.4,4.98,".",".",".","."]
["chr2",189870953,189870953,"C","A","chr2_189870953_189870953_C_A","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon42:c.C3061A:p.L1021I",{"v":0.009593246354566385,"d":"0.0095932"},25,2606,0.0005,0.0057,".",0.000998403,0.005,"Uncertain significance","Thoracic_aortic_aneurysm_and_aortic_dissection","rs139619440","T","D","D","N","N",26.1,5.78,".",".",".","."]
["chr2",189871110,189871110,"G","A","chr2_189871110_189871110_G_A","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon43:c.G3133A:p.A1045T",{"v":0.0049923195084485405,"d":"0.0049923"},13,2604,0.0006,0.0048,0.000154,0.00179712,0.0069,"Likely benign|Uncertain significance","not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection","rs149722210","T","D","P","N","D",25.7,2.28,"CM122890","DM","Low","Aortic aneurysm:3133G>A"]
["chr2",189873737,189873737,"A","G","chr2_189873737_189873737_A_G","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon48:c.A3613G:p.I1205V",{"v":0.07904834996162702,"d":"0.0790483"},206,2606,0.0047,0.0569,0.000154,0.0107827,0.0516,"Benign","Thoracic_aortic_aneurysm_and_aortic_dissection","rs2271683","T","B","B","N","N",0.008,-10.5,".",".",".","."]
["chr2",189873767,189873767,"G","A","chr2_189873767_189873767_G_A","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon48:c.G3643A:p.G1215S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.855e-05,"d":"2.86E-05"},0.0003,".",".",".",".",".","rs767577382","T","D","P","N","D",18.27,3.71,".",".",".","."]
["chr2",189873798,189873798,"T","C","chr2_189873798_189873798_T_C","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon48:c.T3674C:p.M1225T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",10.85,2.82,".",".",".","."]
["chr2",189873900,189873900,"C","T","chr2_189873900_189873900_C_T","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon48:c.C3776T:p.A1259V",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":7.545e-05,"d":"7.55E-05"},0.001,".",0.000199681,0.001,".",".","rs148387626","D","D","D","D","D",24.4,5.6,"CM122891","DM","Low","Aortic aneurysm:3776C>T"]
["chr2",189875015,189875015,"G","A","chr2_189875015_189875015_G_A","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon49:c.G3935A:p.R1312Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs772919524","T","B","B","N","N",12.79,0.638,".",".",".","."]
["chr2",189875076,189875076,"G","A","chr2_189875076_189875076_G_A","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon49:c.G3996A:p.M1332I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",23.1,4.96,".",".",".","."]
["chr2",189875615,189875615,"C","A","chr2_189875615_189875615_C_A","COL3A1","nonsynonymous SNV","COL3A1:NM_000090:exon50:c.C4253A:p.T1418K",{"v":0.0024752475247524753,"d":"0.0024752"},1,404,".",".",".",".",".",".",".",".","T","B","B","N","D",24.2,4.61,".",".",".","."]
["chr3",10188242,10188242,"C","G","chr3_10188242_10188242_C_G","VHL","nonsynonymous SNV","VHL:NM_000551:exon2:c.C385G:p.L129V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0003,".",".",".",".",".","rs369018004",".","P","P","N","D",20.6,4.2,".",".",".","."]
["chr3",10188273,10188273,"C","T","chr3_10188273_10188273_C_T","VHL","nonsynonymous SNV","VHL:NM_000551:exon2:c.C416T:p.S139F",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance|Uncertain significance,Uncertain significance","Von_Hippel-Lindau_syndrome|not_specified,Von_Hippel-Lindau_syndrome","rs587780732",".","D","P","N","D",31,5.07,"CM1410321","DM","High","Von Hippel-Lindau syndrome:416C>T"]
["chr3",10191552,10191552,"G","A","chr3_10191552_10191552_G_A","VHL","nonsynonymous SNV","VHL:NM_198156:exon2:c.G422A:p.R141K,VHL:NM_000551:exon3:c.G545A:p.R182K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.889e-05,"d":"1.89E-05"},0.0001,".",".",".",".",".","rs749774529","T","P","P","D","N",16.13,4.97,".",".",".","."]
["chr3",10191587,10191587,"G","A","chr3_10191587_10191587_G_A","VHL","nonsynonymous SNV","VHL:NM_198156:exon2:c.G457A:p.V153M,VHL:NM_000551:exon3:c.G580A:p.V194M",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","D","D","N",28.2,4.09,".",".",".","."]
["chr3",14170924,14170924,"A","C","chr3_14170924_14170924_A_C","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon2:c.A25C:p.S9R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.109,-1.47,".",".",".","."]
["chr3",14170931,14170931,"G","A","chr3_14170931_14170931_G_A","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon2:c.G32A:p.R11Q",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.419e-06,"d":"9.42E-06"},0,".",0.000199681,".",".",".","rs568179990","T","B","B","D","N",14.61,3.87,".",".",".","."]
["chr3",14170990,14170990,"G","A","chr3_14170990_14170990_G_A","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon2:c.G91A:p.E31K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.592e-05,"d":"6.59E-05"},0,".",".",".",".",".","rs754536393","T","B","B","N","D",22.7,4.16,".",".",".","."]
["chr3",14172424,14172424,"G","A","chr3_14172424_14172424_G_A","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon3:c.G265A:p.V89M",{"v":0.0049884881043745204,"d":"0.0049885"},13,2606,0.0001,0.0011,7.7e-05,0.000399361,0.002,".",".","rs147319971","D","D","P","D","D",25.1,5.29,".",".",".","."]
["chr3",14172430,14172430,"A","G","chr3_14172430_14172430_A_G","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon3:c.A271G:p.I91V",{"v":0.0030698388334612432,"d":"0.0030698"},8,2606,{"v":5.678e-05,"d":"5.68E-05"},0.0008,0.000154,0.000199681,0.001,"Pathogenic|Uncertain significance","Emery-Dreifuss_muscular_dystrophy_7,_autosomal_dominant|not_provided","rs144811578","T","B","B","N","N",17.64,-0.601,"CM114690","DM","Low","EDMD-related myopathy:271A>G"]
["chr3",14173105,14173105,"T","C","chr3_14173105_14173105_T_C","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon4:c.T323C:p.V108A",{"v":0.0019230769230769232,"d":"0.0019231"},5,2600,0.0002,0.0023,".",0.000199681,0.001,"Uncertain significance|Uncertain significance","not_specified|not_provided","rs182351748","D","P","B","N","D",25.9,5.16,".",".",".","."]
["chr3",14174427,14174427,"A","T","chr3_14174427_14174427_A_T","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon6:c.A504T:p.K168N",{"v":0.3825786646201074,"d":"0.3825787"},997,2606,0.3251,0.4342,0.28756,0.352636,0.4613,"Benign","not_specified","rs4685076","T","B","B","D","P",19.4,1.56,".",".",".","."]
["chr3",14175262,14175262,"T","C","chr3_14175262_14175262_T_C","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon7:c.T536C:p.M179T",{"v":0.6546431312356101,"d":"0.6546431"},1706,2606,0.3795,0.6736,0.332769,0.463259,0.6756,"Benign|Benign","not_specified|not_provided","rs2340917","T","B","B","N","P",6.855,5.32,".",".",".","."]
["chr3",14176287,14176287,"G","A","chr3_14176287_14176287_G_A","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon8:c.G601A:p.D201N",{"v":0.0034535686876438986,"d":"0.0034536"},9,2606,0.0001,0.0019,".",0.000599042,0.003,"Uncertain significance","not_provided","rs138182276","T","B","B","N","D",14.62,4.26,".",".",".","."]
["chr3",14176332,14176332,"G","T","chr3_14176332_14176332_G_T","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon8:c.G646T:p.V216L",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0004,".",".",".",".",".","rs143735210","T","B","B","D","D",21.2,5.33,".",".",".","."]
["chr3",14176344,14176344,"C","T","chr3_14176344_14176344_C_T","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon8:c.C658T:p.R220C",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,{"v":3.767e-05,"d":"3.77E-05"},0.0001,".",".",".","Likely benign","Primary_familial_hypertrophic_cardiomyopathy","rs562700595","T","D","P","N","D",29.3,4.46,".",".",".","."]
["chr3",14176703,14176703,"G","A","chr3_14176703_14176703_G_A","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon9:c.G751A:p.D251N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.909e-05,"d":"1.91E-05"},0,7.7e-05,".",".","Uncertain significance","not_provided","rs375481688","T","D","P","D","D",19.23,5.01,".",".",".","."]
["chr3",14180688,14180688,"T","G","chr3_14180688_14180688_T_G","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon11:c.T891G:p.F297L",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,".",".",".",".",".",".",".",".","T","D","P","D","D",26.4,1.41,".",".",".","."]
["chr3",14180693,14180693,"G","C","chr3_14180693_14180693_G_C","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon11:c.G896C:p.R299T",{"v":0.008070714834742506,"d":"0.0080707"},21,2602,0.0006,0.0062,7.7e-05,0.00119808,0.006,"Likely benign","not_provided","rs139590716","T","P","B","D","D",24.1,4.37,".",".",".","."]
["chr3",14183203,14183203,"T","C","chr3_14183203_14183203_T_C","TMEM43","nonsynonymous SNV","TMEM43:NM_024334:exon12:c.T1111C:p.Y371H",{"v":0.011128165771297006,"d":"0.0111282"},29,2606,0.0008,0.0103,".",0.00179712,0.0089,"Likely benign|other","not_specified|not_provided","rs116911972","T","P","P","D","D",20.3,4.54,"CM1310795","DM","Low","Arrhythmogenic right ventricular cardiomyopathy:1111T>C"]
["chr3",30648383,30648383,"G","A","chr3_30648383_30648383_G_A","TGFBR2","nonsynonymous SNV","TGFBR2:NM_001024847:exon1:c.G8A:p.R3Q,TGFBR2:NM_003242:exon1:c.G8A:p.R3Q",{"v":0.0003863987635239567,"d":"0.0003864"},1,2588,{"v":3.969e-05,"d":"3.97E-05"},0,".",".",".",".",".","rs780267559","D","B","B",".","N",26.6,3.76,".",".",".","."]
["chr3",30664732,30664732,"A","C","chr3_30664732_30664732_A_C","TGFBR2","nonsynonymous SNV","TGFBR2:NM_001024847:exon2:c.A136C:p.S46R",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,0.0002,0.0025,".",0.00119808,0.006,"Uncertain significance","not_specified","rs200111443","D","B","B","N","N",6.806,-4.2,"CM122998","DM","Low","Aortic aneurysm:136A>C"]
["chr3",30691872,30691872,"A","-","chr3_30691872_30691872_A_-","TGFBR2","frameshift deletion","TGFBR2:NM_003242:exon3:c.374delA:p.E125fs,TGFBR2:NM_001024847:exon4:c.449delA:p.E150fs",{"v":0.006872852233676976,"d":"0.0068729"},12,1746,0.0332,0.0523,0.058377,".",".",".",".","rs752580104",".",".",".",".",".",35,5.97,"CD136166","DM","Low","Colorectal cancer:383delA"]
["chr3",30713246,30713246,"G","A","chr3_30713246_30713246_G_A","TGFBR2","nonsynonymous SNV","TGFBR2:NM_003242:exon4:c.G571A:p.V191I,TGFBR2:NM_001024847:exon5:c.G646A:p.V216I",{"v":0.019585253456221197,"d":"0.0195853"},51,2604,0.0018,0.0197,".",0.00399361,0.0188,"Benign","not_specified","rs56105708","T","B","B","N","N",10.13,4.4,".",".",".","."]
["chr3",30713289,30713289,"A","G","chr3_30713289_30713289_A_G","TGFBR2","nonsynonymous SNV","TGFBR2:NM_003242:exon4:c.A614G:p.K205R,TGFBR2:NM_001024847:exon5:c.A689G:p.K230R",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","P","B","D","D",8.821,5.43,".",".",".","."]
["chr3",30713292,30713292,"C","T","chr3_30713292_30713292_C_T","TGFBR2","nonsynonymous SNV","TGFBR2:NM_003242:exon4:c.C617T:p.T206M,TGFBR2:NM_001024847:exon5:c.C692T:p.T231M",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":3.768e-05,"d":"3.77E-05"},0.0001,".",0.000199681,".","Uncertain significance","not_specified","rs150022335","T","P","B","N","N",9.17,3.51,"CM122997","DM","Low","Aortic aneurysm:617C>T"]
["chr3",30713420,30713420,"C","G","chr3_30713420_30713420_C_G","TGFBR2","nonsynonymous SNV","TGFBR2:NM_003242:exon4:c.C745G:p.L249V,TGFBR2:NM_001024847:exon5:c.C820G:p.L274V",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B","N","D",15.44,4.55,".",".",".","."]
["chr3",30713619,30713619,"C","T","chr3_30713619_30713619_C_T","TGFBR2","nonsynonymous SNV","TGFBR2:NM_003242:exon4:c.C944T:p.T315M,TGFBR2:NM_001024847:exon5:c.C1019T:p.T340M",{"v":0.016563944530046226,"d":"0.0165639"},43,2596,0.0011,0.0149,7.7e-05,0.00299521,0.0149,"Pathogenic","Hereditary_nonpolyposis_colorectal_cancer_type_6","rs34833812","T","B","B","N","A",22.8,3.94,".",".",".","."]
["chr3",37035043,37035043,"C","T","chr3_37035043_37035043_C_T","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon1:c.C5T:p.S2L,MLH1:NM_001258271:exon1:c.C5T:p.S2L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.825e-05,"d":"2.83E-05"},0,".",".",".","Pathogenic,Uncertain significance","Lynch_syndrome,Hereditary_cancer-predisposing_syndrome","rs587779029","D","B","B","N","N",26.3,5.87,".",".",".","."]
["chr3",37035084,37035084,"G","C","chr3_37035084_37035084_G_C","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon1:c.G46C:p.V16L,MLH1:NM_001258271:exon1:c.G46C:p.V16L",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.415e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs776643257","D","D","D","D","D",28.5,5.1,".",".",".","."]
["chr3",37035112,37035112,"T","C","chr3_37035112_37035112_T_C","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon1:c.T74C:p.I25T,MLH1:NM_001258271:exon1:c.T74C:p.I25T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.417e-06,"d":"9.42E-06"},0,".",".",".","Uncertain significance","Lynch_syndrome","rs63750514","D","D","D","D","D",28.4,5.98,"CM076294","DM","High","Colorectal cancer:74T>C"]
["chr3",37042521,37042521,"T","G","chr3_37042521_37042521_T_G","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon3:c.T283G:p.S95A,MLH1:NM_001258271:exon3:c.T283G:p.S95A",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.421e-06,"d":"9.42E-06"},0.0001,".",".",".","Uncertain significance|Uncertain significance","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs63751070","T","B","B","N","D",7.565,3.37,".",".",".","."]
["chr3",37048514,37048514,"C","G","chr3_37048514_37048514_C_G","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon5:c.C413G:p.P138R,MLH1:NM_001167617:exon5:c.C119G:p.P40R,MLH1:NM_001258271:exon5:c.C413G:p.P138R",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","D","B","B","D","D",28.6,6.16,".",".",".","."]
["chr3",37053539,37053539,"A","G","chr3_37053539_37053539_A_G","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon8:c.A626G:p.N209S,MLH1:NM_001167617:exon8:c.A332G:p.N111S,MLH1:NM_001258271:exon8:c.A626G:p.N209S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":5.65e-05,"d":"5.65E-05"},0.0001,7.7e-05,0.000199681,".","Uncertain significance,Uncertain significance|Uncertain significance","Lynch_syndrome,Hereditary_cancer-predisposing_syndrome|Lynch_syndrome","rs150478207","T","B","B","N","N",1.31,-5.8,".",".",".","."]
["chr3",37053562,37053562,"C","T","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",{"v":0.007302075326671791,"d":"0.0073021"},19,2602,0.0003,0.0038,".",0.000599042,0.002,"Uncertain significance|Uncertain significance","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs4986984","D","D","D","D","D",35,5.76,"CM950803","DM","Low","Colorectal cancer  non-polyposis:649C>T"]
["chr3",37053568,37053568,"A","G","chr3_37053568_37053568_A_G","MLH1","nonsynonymous SNV","MLH1:NM_000249:exon8:c.A655G:p.I219V,MLH1:NM_001167617:exon8:c.A361G:p.I121V,MLH1:NM_001258271:exon8:c.A655G:p.I219V",{"v":0.026477359938603222,"d":"0.0264774"},69,2606,0.2262,0.022,0.242965,0.129593,0.0258,"Benign,Benign|Benign|Benign|Benign|Benign","Lynch_syndrome,Lynch_syndrome|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I","rs1799977","T","B","B","D","P",13.9,4.61,".",".",".","."]
["chr3",37056021,37056021,"T","C","chr3_37056021_37056021_T_C","MLH1","nonsynonymous SNV","MLH1:NM_001167619:exon8:c.T53C:p.L18S,MLH1:NM_001258273:exon8:c.T53C:p.L18S,MLH1:NM_000249:exon9:c.T776C:p.L259S,MLH1:NM_001167617:exon9:c.T482C:p.L161S,MLH1:NM_001167618:exon9:c.T53C:p.L18S,MLH1:NM_001258271:exon9:c.T776C:p.L259S,MLH1:NM_001258274:exon10:c.T53C:p.L18S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.926e-05,"d":"2.93E-05"},0.0004,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs56250509","D","P","P","N","D",28.2,5.43,".",".",".","."]
["chr3",37067124,37067129,"ACAGAC","-","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",{"v":0.0016574585635359116,"d":"0.0016575"},3,1810,".",".",".",".",".",".",".",".",".",".",".",".",".",35,5.67,".",".",".","."]
["chr3",37067240,37067240,"T","A","chr3_37067240_37067240_T_A","MLH1","nonsynonymous SNV","MLH1:NM_001167619:exon11:c.T428A:p.V143D,MLH1:NM_001258273:exon11:c.T428A:p.V143D,MLH1:NM_000249:exon12:c.T1151A:p.V384D,MLH1:NM_001167617:exon12:c.T857A:p.V286D,MLH1:NM_001167618:exon12:c.T428A:p.V143D,MLH1:NM_001258271:exon12:c.T1151A:p.V384D,MLH1:NM_001258274:exon13:c.T428A:p.V143D",{"v":0.039568345323741004,"d":"0.0395683"},88,2224,0.0029,0.0394,7.7e-05,0.00519169,0.0258,"Benign|Benign|not provided|Benign|Benign","not_provided|Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I","rs63750447","D","D","D","D","D",33,5.67,"CM981292","DM","Low","Colorectal cancer  non-polyposis:1151T>A"]
["chr3",37067242,37067242,"C","T","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",{"v":0.0017985611510791368,"d":"0.0017986"},4,2224,{"v":3.767e-05,"d":"3.77E-05"},0.0004,".",".",".","Likely pathogenic|Uncertain significance","Lynch_syndrome|not_specified","rs63750760","D","D","D","D","D",35,5.67,"CM022425","DM","High","Colorectal cancer  non-polyposis:1153C>T"]
["chr3",37067356,37067356,"A","G","chr3_37067356_37067356_A_G","MLH1","nonsynonymous SNV","MLH1:NM_001167619:exon11:c.A544G:p.R182G,MLH1:NM_001258273:exon11:c.A544G:p.R182G,MLH1:NM_000249:exon12:c.A1267G:p.R423G,MLH1:NM_001167617:exon12:c.A973G:p.R325G,MLH1:NM_001167618:exon12:c.A544G:p.R182G,MLH1:NM_001258271:exon12:c.A1267G:p.R423G,MLH1:NM_001258274:exon13:c.A544G:p.R182G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",8.132,-6.01,".",".",".","."]
["chr3",37081682,37081682,"C","T","chr3_37081682_37081682_C_T","MLH1","nonsynonymous SNV","MLH1:NM_001167619:exon13:c.C841T:p.R281W,MLH1:NM_001258273:exon13:c.C841T:p.R281W,MLH1:NM_000249:exon14:c.C1564T:p.R522W,MLH1:NM_001167617:exon14:c.C1270T:p.R424W,MLH1:NM_001167618:exon14:c.C841T:p.R281W,MLH1:NM_001258271:exon14:c.C1564T:p.R522W,MLH1:NM_001258274:exon15:c.C841T:p.R281W",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":3.773e-05,"d":"3.77E-05"},0,".",".",".","Uncertain significance","Lynch_syndrome","rs63751703","D","P","B","D","D",26.1,5.84,".",".",".","."]
["chr3",37090008,37090008,"G","A","chr3_37090008_37090008_G_A","MLH1","nonsynonymous SNV","MLH1:NM_001167619:exon16:c.G1174A:p.E392K,MLH1:NM_001258273:exon16:c.G1174A:p.E392K,MLH1:NM_000249:exon17:c.G1897A:p.E633K,MLH1:NM_001167617:exon17:c.G1603A:p.E535K,MLH1:NM_001167618:exon17:c.G1174A:p.E392K,MLH1:NM_001258274:exon18:c.G1174A:p.E392K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",23.8,5.81,".",".",".","."]
["chr3",37090048,37090048,"A","G","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.825e-05,"d":"2.83E-05"},0,".",".",".","Uncertain significance|Uncertain significance","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome","rs35045067","D","D","D","D","D",31,5.81,"CM022426","DM","High","Colorectal cancer  non-polyposis:1937A>G"]
["chr3",37090506,37090506,"C","A","chr3_37090506_37090506_C_A","MLH1","nonsynonymous SNV","MLH1:NM_001167619:exon17:c.C1378A:p.Q460K,MLH1:NM_001258273:exon17:c.C1378A:p.Q460K,MLH1:NM_000249:exon18:c.C2101A:p.Q701K,MLH1:NM_001167617:exon18:c.C1807A:p.Q603K,MLH1:NM_001167618:exon18:c.C1378A:p.Q460K,MLH1:NM_001258274:exon19:c.C1378A:p.Q460K",{"v":0.0019334880123743233,"d":"0.0019335"},5,2586,0.0005,0.0067,".",0.00119808,0.006,"Likely benign|other,Pathogenic","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome,Lynch_syndrome","rs63750114","T","P","B","N","D",17.14,4.94,"CM066579","DM","High","Gastric cancer:2101C>A"]
["chr3",37091983,37091983,"G","C","chr3_37091983_37091983_G_C","MLH1","nonsynonymous SNV","MLH1:NM_001258271:exon17:c.G1903C:p.V635L,MLH1:NM_001167619:exon18:c.G1387C:p.V463L,MLH1:NM_001258273:exon18:c.G1387C:p.V463L,MLH1:NM_000249:exon19:c.G2110C:p.V704L,MLH1:NM_001167617:exon19:c.G1816C:p.V606L,MLH1:NM_001167618:exon19:c.G1387C:p.V463L,MLH1:NM_001258274:exon20:c.G1387C:p.V463L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.441e-06,"d":"9.44E-06"},0.0001,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs587781811","T","B","B","N","N",0.737,1.49,".",".",".","."]
["chr3",38591900,38591900,"A","C","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",{"v":0.016166281755196306,"d":"0.0161663"},42,2598,0.0003,0.0035,".",0.000399361,0.002,"Uncertain significance","not_provided","rs145009013","T","B","B","N","N",19.68,2.52,"CM143588","DM","High","Long QT syndrome:5963T>G"]
["chr3",38592033,38592033,"G","A","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Pathogenic","not_provided","rs794728940",".",".",".","N","D",43,4.05,"CM143806","DM","High","Sudden unexplained death:5830C>T"]
["chr3",38592051,38592051,"C","T","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",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.612e-06,"d":"9.61E-06"},0,".",".",".","Pathogenic","Brugada_syndrome","rs199473329","T","B","B","N","N",15.25,3.96,"CM100761","DM","High","Brugada syndrome:5812G>A"]
["chr3",38592108,38592108,"G","A","chr3_38592108_38592108_G_A","SCN5A","nonsynonymous SNV","SCN5A:NM_001099405:exon27:c.C5701T:p.R1901C,SCN5A:NM_001160161:exon27:c.C5593T:p.R1865C,SCN5A:NM_000335:exon28:c.C5752T:p.R1918C,SCN5A:NM_001099404:exon28:c.C5755T:p.R1919C,SCN5A:NM_001160160:exon28:c.C5656T:p.R1886C,SCN5A:NM_198056:exon28:c.C5755T:p.R1919C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.842e-05,"d":"2.84E-05"},0,".",".",".","Benign","not_provided","rs199473328","D","D","D","D","D",29.4,3.94,".",".",".","."]
["chr3",38592821,38592821,"T","A","chr3_38592821_38592821_T_A","SCN5A","nonsynonymous SNV","SCN5A:NM_001099405:exon27:c.A4988T:p.Y1663F,SCN5A:NM_001160161:exon27:c.A4880T:p.Y1627F,SCN5A:NM_000335:exon28:c.A5039T:p.Y1680F,SCN5A:NM_001099404:exon28:c.A5042T:p.Y1681F,SCN5A:NM_001160160:exon28:c.A4943T:p.Y1648F,SCN5A:NM_198056:exon28:c.A5042T:p.Y1681F",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.415e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs764011043","D","D","D","D","D",26.1,4.11,".",".",".","."]
["chr3",38592968,38592968,"C","T","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",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":9.418e-06,"d":"9.42E-06"},0.0001,".",".",".","Pathogenic","Cardiac_conduction_defect,_nonspecific","rs199473286","D","D","D","D","D",33,4.54,"CM033023","DM","High","Nodal rhythm:4895G>A"]
["chr3",38595804,38595804,"G","C","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Pathogenic","Congenital_long_QT_syndrome","rs199473276","D","D","D","D","D",24.8,2.81,"CM097678","DM","High","Long QT syndrome:4779C>G"]
["chr3",38607905,38607905,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0002,0,7.7e-05,".",".","Pathogenic|Likely benign|Likely pathogenic","Dilated_cardiomyopathy|Primary_dilated_cardiomyopathy|not_provided","rs199473341","D","D","D","D","D",27.1,3.92,"CM113113","DM","High","Cardiomyopathy  dilated:3835G>A"]
["chr3",38607989,38607989,"C","T","chr3_38607989_38607989_C_T","SCN5A","nonsynonymous SNV","SCN5A:NM_001160161:exon20:c.G3589A:p.V1197M,SCN5A:NM_000335:exon21:c.G3748A:p.V1250M,SCN5A:NM_001099404:exon21:c.G3751A:p.V1251M,SCN5A:NM_001099405:exon21:c.G3751A:p.V1251M,SCN5A:NM_001160160:exon21:c.G3748A:p.V1250M,SCN5A:NM_198056:exon21:c.G3751A:p.V1251M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0003,0.0006,0.000769,0.000599042,".","other|Uncertain significance","not_provided|not_specified","rs199473600","D","D","D","N","D",33,4.64,".",".",".","."]
["chr3",38616876,38616876,"C","T","chr3_38616876_38616876_C_T","SCN5A","nonsynonymous SNV","SCN5A:NM_001160161:exon19:c.G3416A:p.R1139Q,SCN5A:NM_000335:exon20:c.G3575A:p.R1192Q,SCN5A:NM_001099404:exon20:c.G3578A:p.R1193Q,SCN5A:NM_001099405:exon20:c.G3578A:p.R1193Q,SCN5A:NM_001160160:exon20:c.G3575A:p.R1192Q,SCN5A:NM_198056:exon20:c.G3578A:p.R1193Q",{"v":0.053338449731389105,"d":"0.0533384"},139,2606,0.0064,0.0715,0.000846,0.0123802,0.0585,"Pathogenic|other|other|Benign|Uncertain significance|Benign","Brugada_syndrome_1|Long_QT_syndrome_3,_acquired,_susceptibility_to|not_provided|not_specified|Primary_familial_hypertrophic_cardiomyopathy|Brugada_syndrome","rs41261344","T","P","B","N","A",22.8,1.58,"CM020303","DM","Low","Sudden unexplained nocturnal death syndrome:3578G>A"]
["chr3",38616877,38616877,"G","A","chr3_38616877_38616877_G_A","SCN5A","nonsynonymous SNV","SCN5A:NM_001160161:exon19:c.C3415T:p.R1139W,SCN5A:NM_000335:exon20:c.C3574T:p.R1192W,SCN5A:NM_001099404:exon20:c.C3577T:p.R1193W,SCN5A:NM_001099405:exon20:c.C3577T:p.R1193W,SCN5A:NM_001160160:exon20:c.C3574T:p.R1192W,SCN5A:NM_198056:exon20:c.C3577T:p.R1193W",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,0.0001,0.0007,7.7e-05,0.000399361,0.001,"Uncertain significance","not_provided","rs192379242","D","D","D","D","D",33,-0.113,".",".",".","."]
["chr3",38618271,38618271,"G","A","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":5.145e-05,"d":"5.15E-05"},0.0002,7.9e-05,".",".","Likely pathogenic|Pathogenic","Atrial_fibrillation|not_provided","rs199473197","T","B","B","N","N",1.064,0.162,"CM087611","DM","Low","Atrial fibrillation:3392C>T"]
["chr3",38620923,38620923,"C","A","chr3_38620923_38620923_C_A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon18:c.G3289T:p.V1097L,SCN5A:NM_001099404:exon18:c.G3292T:p.V1098L,SCN5A:NM_001099405:exon18:c.G3292T:p.V1098L,SCN5A:NM_001160160:exon18:c.G3289T:p.V1097L,SCN5A:NM_198056:exon18:c.G3292T:p.V1098L",{"v":0.0004574565416285453,"d":"0.0004575"},1,2186,0.0002,0.0022,".",0.000199681,0.001,"Benign","not_provided","rs199473191","T","B","B","N","D",21.6,4.3,".",".",".","."]
["chr3",38620930,38620930,"C","A","chr3_38620930_38620930_C_A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon18:c.G3282T:p.W1094C,SCN5A:NM_001099404:exon18:c.G3285T:p.W1095C,SCN5A:NM_001099405:exon18:c.G3285T:p.W1095C,SCN5A:NM_001160160:exon18:c.G3282T:p.W1094C,SCN5A:NM_198056:exon18:c.G3285T:p.W1095C",{"v":0.00045829514207149406,"d":"0.0004583"},1,2182,{"v":2.059e-05,"d":"2.06E-05"},0.0003,".",".",".",".",".","rs759924541","T","P","P","N","D",25.5,3.41,".",".",".","."]
["chr3",38620946,38620946,"G","A","chr3_38620946_38620946_G_A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon18:c.C3266T:p.P1089L,SCN5A:NM_001099404:exon18:c.C3269T:p.P1090L,SCN5A:NM_001099405:exon18:c.C3269T:p.P1090L,SCN5A:NM_001160160:exon18:c.C3266T:p.P1089L,SCN5A:NM_198056:exon18:c.C3269T:p.P1090L",{"v":0.022727272727272728,"d":"0.0227273"},48,2112,0.0018,0.0207,8e-05,0.00439297,0.0198,"other|Benign","not_specified|not_provided","rs1805125","T","B","B","N","N",7.862,-0.553,".",".",".","."]
["chr3",38622490,38622490,"A","T","chr3_38622490_38622490_A_T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon17:c.T3160A:p.S1054T,SCN5A:NM_001099404:exon17:c.T3160A:p.S1054T,SCN5A:NM_001099405:exon17:c.T3160A:p.S1054T,SCN5A:NM_001160160:exon17:c.T3160A:p.S1054T,SCN5A:NM_001160161:exon17:c.T3160A:p.S1054T,SCN5A:NM_198056:exon17:c.T3160A:p.S1054T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","D",26.2,5.12,".",".",".","."]
["chr3",38622540,38622540,"C","A","chr3_38622540_38622540_C_A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon17:c.G3110T:p.G1037V,SCN5A:NM_001099404:exon17:c.G3110T:p.G1037V,SCN5A:NM_001099405:exon17:c.G3110T:p.G1037V,SCN5A:NM_001160160:exon17:c.G3110T:p.G1037V,SCN5A:NM_001160161:exon17:c.G3110T:p.G1037V,SCN5A:NM_198056:exon17:c.G3110T:p.G1037V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.547e-06,"d":"9.55E-06"},0.0001,".",0.000199681,0.001,".",".","rs201831535","D","D","D","N","D",22.9,4.06,".",".",".","."]
["chr3",38627498,38627498,"G","A","chr3_38627498_38627498_G_A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon16:c.C2471T:p.T824I,SCN5A:NM_001099404:exon16:c.C2471T:p.T824I,SCN5A:NM_001099405:exon16:c.C2471T:p.T824I,SCN5A:NM_001160160:exon16:c.C2471T:p.T824I,SCN5A:NM_001160161:exon16:c.C2471T:p.T824I,SCN5A:NM_198056:exon16:c.C2471T:p.T824I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",28.7,4.44,".",".",".","."]
["chr3",38639315,38639315,"T","C","chr3_38639315_38639315_T_C","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon14:c.A2167G:p.I723V,SCN5A:NM_001099404:exon14:c.A2167G:p.I723V,SCN5A:NM_001099405:exon14:c.A2167G:p.I723V,SCN5A:NM_001160160:exon14:c.A2167G:p.I723V,SCN5A:NM_001160161:exon14:c.A2167G:p.I723V,SCN5A:NM_198056:exon14:c.A2167G:p.I723V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",17.2,4.68,".",".",".","."]
["chr3",38639368,38639368,"G","A","chr3_38639368_38639368_G_A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon14:c.C2114T:p.S705F,SCN5A:NM_001099404:exon14:c.C2114T:p.S705F,SCN5A:NM_001099405:exon14:c.C2114T:p.S705F,SCN5A:NM_001160160:exon14:c.C2114T:p.S705F,SCN5A:NM_001160161:exon14:c.C2114T:p.S705F,SCN5A:NM_198056:exon14:c.C2114T:p.S705F",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":7.577e-05,"d":"7.58E-05"},0.0009,".",".",".","Benign","not_provided","rs199473148","D","P","B","N","D",18.5,4.9,".",".",".","."]
["chr3",38639416,38639416,"C","T","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",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,0.0001,0.0003,7.8e-05,0.000199681,".","other|other","not_provided|Long_QT_syndrome","rs199473145","T","B","B","N","N",21.9,2.01,"CM057209","DM","High","Long QT syndrome:2066G>A"]
["chr3",38640418,38640418,"C","T","chr3_38640418_38640418_C_T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon13:c.G2014A:p.A672T,SCN5A:NM_001099404:exon13:c.G2014A:p.A672T,SCN5A:NM_001099405:exon13:c.G2014A:p.A672T,SCN5A:NM_001160160:exon13:c.G2014A:p.A672T,SCN5A:NM_001160161:exon13:c.G2014A:p.A672T,SCN5A:NM_198056:exon13:c.G2014A:p.A672T",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,0.001,0,7.7e-05,0.00179712,".","other","not_provided","rs199473140","T","B","B","N","D",19.12,4.08,".",".",".","."]
["chr3",38640489,38640489,"G","A","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",{"v":0.0003968253968253968,"d":"0.0003968"},1,2520,{"v":3.844e-05,"d":"3.84E-05"},0,".",".",".","Uncertain significance|Pathogenic","not_specified|Congenital_long_QT_syndrome","rs45609733","T","B","B","N","N",11.32,2.98,"CM055524","DM","High","Long QT syndrome:1943C>T"]
["chr3",38645420,38645420,"T","C","chr3_38645420_38645420_T_C","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon12:c.A1673G:p.H558R,SCN5A:NM_001099404:exon12:c.A1673G:p.H558R,SCN5A:NM_001099405:exon12:c.A1673G:p.H558R,SCN5A:NM_001160160:exon12:c.A1673G:p.H558R,SCN5A:NM_001160161:exon12:c.A1673G:p.H558R,SCN5A:NM_198056:exon12:c.A1673G:p.H558R",{"v":0.113584036838066,"d":"0.1135840"},296,2606,0.2198,0.0967,0.246276,0.230431,0.1012,"Pathogenic|Benign|Benign","Progressive_familial_heart_block_type_1A|not_specified|not_provided","rs1805124","T","B","B","N","P",0.01,2.44,".",".",".","."]
["chr3",38645498,38645498,"A","C","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",{"v":0.0030698388334612432,"d":"0.0030698"},8,2606,{"v":2.196e-05,"d":"2.20E-05"},0.0003,".",".",".","Pathogenic|Likely pathogenic","Brugada_syndrome|not_provided","rs199473573","D","D","D","N","D",28.2,4.33,"CM085688","DM","High","Sudden infant death syndrome:1595T>G"]
["chr3",38645514,38645514,"C","T","chr3_38645514_38645514_C_T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon12:c.G1579A:p.G527R,SCN5A:NM_001099404:exon12:c.G1579A:p.G527R,SCN5A:NM_001099405:exon12:c.G1579A:p.G527R,SCN5A:NM_001160160:exon12:c.G1579A:p.G527R,SCN5A:NM_001160161:exon12:c.G1579A:p.G527R,SCN5A:NM_198056:exon12:c.G1579A:p.G527R",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":5.154e-05,"d":"5.15E-05"},0.0002,".",".",".",".",".","rs763550164","D","D","D","N","D",28.4,4.33,".",".",".","."]
["chr3",38646227,38646227,"C","G","chr3_38646227_38646227_C_G","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon11:c.G1511C:p.R504T,SCN5A:NM_001099404:exon11:c.G1511C:p.R504T,SCN5A:NM_001099405:exon11:c.G1511C:p.R504T,SCN5A:NM_001160160:exon11:c.G1511C:p.R504T,SCN5A:NM_001160161:exon11:c.G1511C:p.R504T,SCN5A:NM_198056:exon11:c.G1511C:p.R504T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.648e-06,"d":"9.65E-06"},0.0001,".",".",".",".",".","rs776451920","D","D","D","D","N",16.06,2.5,".",".",".","."]
["chr3",38648281,38648281,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":8.645e-05,"d":"8.65E-05"},0,".",0.000399361,".","Pathogenic|Pathogenic","Congenital_long_QT_syndrome|not_provided","rs191009474","T","D","P","N","N",21.1,2.84,"CM044057","DM","High","Long QT syndrome:1019G>A"]
["chr3",38651267,38651267,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.801e-05,"d":"3.80E-05"},0.0001,".",".",".","Pathogenic|Pathogenic|Uncertain significance","Progressive_familial_heart_block_type_1A|Atrioventricular_block|not_specified","rs137854608","T","D","P","N","A",20.5,3.99,"CM023982","DM","High","Atrioventricular conduction block:892G>A"]
["chr3",38651285,38651285,"C","T","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",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":1.896e-05,"d":"1.90E-05"},0.0003,".",0.000199681,0.001,"Pathogenic|Pathogenic","Brugada_syndrome|not_provided","rs199473085","T","P","P","N","D",23.5,3.47,"CM045549","DM","High","Brugada syndrome:874G>A"]
["chr3",38651372,38651372,"C","G","chr3_38651372_38651372_C_G","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon7:c.G787C:p.V263L,SCN5A:NM_001099404:exon7:c.G787C:p.V263L,SCN5A:NM_001099405:exon7:c.G787C:p.V263L,SCN5A:NM_001160160:exon7:c.G787C:p.V263L,SCN5A:NM_001160161:exon7:c.G787C:p.V263L,SCN5A:NM_198056:exon7:c.G787C:p.V263L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",33,5.34,".",".",".","."]
["chr3",38651386,38651386,"A","G","chr3_38651386_38651386_A_G","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon7:c.T773C:p.V258A,SCN5A:NM_001099404:exon7:c.T773C:p.V258A,SCN5A:NM_001099405:exon7:c.T773C:p.V258A,SCN5A:NM_001160160:exon7:c.T773C:p.V258A,SCN5A:NM_001160161:exon7:c.T773C:p.V258A,SCN5A:NM_198056:exon7:c.T773C:p.V258A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",28.2,5.34,".",".",".","."]
["chr3",38655239,38655239,"A","G","chr3_38655239_38655239_A_G","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon6:c.T698C:p.I233T,SCN5A:NM_198056:exon6:c.T698C:p.I233T",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","P","P","D","D",19.39,4.19,".",".",".","."]
["chr3",38655324,38655324,"A","G","chr3_38655324_38655324_A_G","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon6:c.T613C:p.Y205H,SCN5A:NM_198056:exon6:c.T613C:p.Y205H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",19.97,4.3,".",".",".","."]
["chr3",38662391,38662391,"G","T","chr3_38662391_38662391_G_T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon5:c.C554A:p.A185E,SCN5A:NM_001099404:exon5:c.C554A:p.A185E,SCN5A:NM_001099405:exon5:c.C554A:p.A185E,SCN5A:NM_001160160:exon5:c.C554A:p.A185E,SCN5A:NM_001160161:exon5:c.C554A:p.A185E,SCN5A:NM_198056:exon5:c.C554A:p.A185E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",10.74,4.13,".",".",".","."]
["chr3",38674547,38674547,"G","T","chr3_38674547_38674547_G_T","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon2:c.C252A:p.D84E,SCN5A:NM_001099404:exon2:c.C252A:p.D84E,SCN5A:NM_001099405:exon2:c.C252A:p.D84E,SCN5A:NM_001160160:exon2:c.C252A:p.D84E,SCN5A:NM_001160161:exon2:c.C252A:p.D84E,SCN5A:NM_198056:exon2:c.C252A:p.D84E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",27.4,4.73,".",".",".","."]
["chr3",38674682,38674682,"C","G","chr3_38674682_38674682_C_G","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon2:c.G117C:p.L39F,SCN5A:NM_001099404:exon2:c.G117C:p.L39F,SCN5A:NM_001099405:exon2:c.G117C:p.L39F,SCN5A:NM_001160160:exon2:c.G117C:p.L39F,SCN5A:NM_001160161:exon2:c.G117C:p.L39F,SCN5A:NM_198056:exon2:c.G117C:p.L39F",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","N","N",0.02,-5.9,".",".",".","."]
["chr3",38674699,38674699,"G","A","chr3_38674699_38674699_G_A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon2:c.C100T:p.R34C,SCN5A:NM_001099404:exon2:c.C100T:p.R34C,SCN5A:NM_001099405:exon2:c.C100T:p.R34C,SCN5A:NM_001160160:exon2:c.C100T:p.R34C,SCN5A:NM_001160161:exon2:c.C100T:p.R34C,SCN5A:NM_198056:exon2:c.C100T:p.R34C",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,0.0093,0,0.029633,0.0371406,".","Benign|Benign","not_specified|not_provided","rs6791924","D","D","P","D","D",26.9,4.55,"CM148752","DM","Low","Focal epilepsy:100C>T"]
["chr3",38674720,38674720,"G","A","chr3_38674720_38674720_G_A","SCN5A","nonsynonymous SNV","SCN5A:NM_000335:exon2:c.C79T:p.R27C,SCN5A:NM_001099404:exon2:c.C79T:p.R27C,SCN5A:NM_001099405:exon2:c.C79T:p.R27C,SCN5A:NM_001160160:exon2:c.C79T:p.R27C,SCN5A:NM_001160161:exon2:c.C79T:p.R27C,SCN5A:NM_198056:exon2:c.C79T:p.R27C",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,{"v":2.853e-05,"d":"2.85E-05"},0,".",".",".",".",".","rs746360906","T","D","D","D","D",32,4.55,".",".",".","."]
["chr3",46902303,46902303,"G","C","chr3_46902303_46902303_G_C","MYL3","nonsynonymous SNV","MYL3:NM_000258:exon3:c.C170G:p.A57G",{"v":0.001153846153846154,"d":"0.0011538"},3,2600,0.0001,0.0005,".",".",".","not provided|Pathogenic|Pathogenic,Uncertain significance|Uncertain significance|Pathogenic","not_provided|Familial_hypertrophic_cardiomyopathy_8|Cardiomyopathy,not_specified|Primary_familial_hypertrophic_cardiomyopathy|Cardiomyopathy","rs139794067","D","P","B","D","D",24.7,4.36,"CM014210","DM","High","Cardiomyopathy  hypertrophic:170C>G"]
["chr3",46902464,46902464,"G","C","chr3_46902464_46902464_G_C","MYL3","nonsynonymous SNV","MYL3:NM_000258:exon2:c.C143G:p.P48R",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","N","N",13.8,3.88,".",".",".","."]
["chr3",46904789,46904789,"C","T","chr3_46904789_46904789_C_T","MYL3","nonsynonymous SNV","MYL3:NM_000258:exon1:c.G92A:p.R31H",{"v":0.0030698388334612432,"d":"0.0030698"},8,2606,0.0001,0.0015,".",0.000199681,0.001,".",".","rs199639940","D","P","B","N","N",9.896,-5.72,".",".",".","."]
["chr3",46904880,46904880,"T","-","chr3_46904880_46904880_T_-","MYL3","frameshift deletion","MYL3:NM_000258:exon1:c.1delA:p.M1fs",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",26.4,4.78,".",".",".","."]
["chr3",123339161,123339161,"G","A","chr3_123339161_123339161_G_A","MYLK","nonsynonymous SNV","MYLK:NM_053028:exon30:c.C4901T:p.A1634V,MYLK:NM_053026:exon31:c.C5054T:p.A1685V,MYLK:NM_053027:exon31:c.C5108T:p.A1703V,MYLK:NM_053025:exon32:c.C5261T:p.A1754V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D",".","D",24.9,5.37,".",".",".","."]
["chr3",123356997,123356997,"C","T","chr3_123356997_123356997_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon28:c.G4675A:p.V1559M,MYLK:NM_053028:exon28:c.G4675A:p.V1559M,MYLK:NM_053025:exon29:c.G4882A:p.V1628M,MYLK:NM_053027:exon29:c.G4882A:p.V1628M",{"v":0.004604758250191865,"d":"0.0046048"},12,2606,0.0004,0.005,".",0.000998403,0.005,".",".","rs76655666","D","D","D",".","D",33,5.13,".",".",".","."]
["chr3",123359185,123359185,"T","G","chr3_123359185_123359185_T_G","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon27:c.A4579C:p.K1527Q,MYLK:NM_053028:exon27:c.A4579C:p.K1527Q,MYLK:NM_053025:exon28:c.A4786C:p.K1596Q,MYLK:NM_053027:exon28:c.A4786C:p.K1596Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D",".","D",26.2,5.4,".",".",".","."]
["chr3",123375991,123375991,"C","T","chr3_123375991_123375991_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon23:c.G4063A:p.V1355I,MYLK:NM_053028:exon23:c.G4063A:p.V1355I,MYLK:NM_053025:exon24:c.G4270A:p.V1424I,MYLK:NM_053027:exon24:c.G4270A:p.V1424I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0001,".",0.000199681,0.001,".",".","rs553263281","T","D","P",".","D",21,5.25,".",".",".","."]
["chr3",123376230,123376230,"C","T","chr3_123376230_123376230_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon23:c.G3824A:p.R1275Q,MYLK:NM_053028:exon23:c.G3824A:p.R1275Q,MYLK:NM_053025:exon24:c.G4031A:p.R1344Q,MYLK:NM_053027:exon24:c.G4031A:p.R1344Q",{"v":0.001156515034695451,"d":"0.0011565"},3,2594,{"v":6.62e-05,"d":"6.62E-05"},0.0008,".",".",".",".",".","rs774223564","T","D","D",".","D",28.1,5.65,".",".",".","."]
["chr3",123383030,123383030,"C","G","chr3_123383030_123383030_C_G","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon22:c.G3700C:p.E1234Q,MYLK:NM_053028:exon22:c.G3700C:p.E1234Q,MYLK:NM_053025:exon23:c.G3907C:p.E1303Q,MYLK:NM_053027:exon23:c.G3907C:p.E1303Q",{"v":0.0015372790161414297,"d":"0.0015373"},4,2602,{"v":5.651e-05,"d":"5.65E-05"},0.0008,".",".",".",".",".","rs777401981","T","D","D",".","D",26.6,3.96,".",".",".","."]
["chr3",123385073,123385073,"C","T","chr3_123385073_123385073_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon21:c.G3617A:p.R1206Q,MYLK:NM_053028:exon21:c.G3617A:p.R1206Q,MYLK:NM_053025:exon22:c.G3824A:p.R1275Q,MYLK:NM_053027:exon22:c.G3824A:p.R1275Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0001,".",0.000199681,".",".",".","rs564792567","T","D","D",".","D",28.5,5.54,".",".",".","."]
["chr3",123385992,123385992,"G","A","chr3_123385992_123385992_G_A","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon20:c.C3488T:p.P1163L,MYLK:NM_053028:exon20:c.C3488T:p.P1163L,MYLK:NM_053025:exon21:c.C3695T:p.P1232L,MYLK:NM_053027:exon21:c.C3695T:p.P1232L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.884e-05,"d":"1.88E-05"},0,".",".",".",".",".","rs774553050","T","D","P",".","D",24.5,3.51,".",".",".","."]
["chr3",123411684,123411684,"C","T","chr3_123411684_123411684_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon18:c.G3256A:p.V1086I,MYLK:NM_053028:exon18:c.G3256A:p.V1086I,MYLK:NM_053025:exon19:c.G3463A:p.V1155I,MYLK:NM_053027:exon19:c.G3463A:p.V1155I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs201251944","T","B","B",".","N",22.2,3.2,".",".",".","."]
["chr3",123419072,123419072,"A","T","chr3_123419072_123419072_A_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon17:c.T3036A:p.H1012Q,MYLK:NM_053028:exon17:c.T3036A:p.H1012Q,MYLK:NM_053025:exon18:c.T3243A:p.H1081Q,MYLK:NM_053027:exon18:c.T3243A:p.H1081Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B",".","N",0.001,-8.43,".",".",".","."]
["chr3",123419117,123419119,"TTC","-","chr3_123419117_123419119_TTC_-","MYLK","nonframeshift deletion","MYLK:NM_053026:exon17:c.2989_2991del:p.997_997del,MYLK:NM_053028:exon17:c.2989_2991del:p.997_997del,MYLK:NM_053025:exon18:c.3196_3198del:p.1066_1066del,MYLK:NM_053027:exon18:c.3196_3198del:p.1066_1066del",{"v":0.4708365310821182,"d":"0.4708365"},1227,2606,0.0723,0.5032,0.018288,0.151757,0.498,"Benign","not_specified","rs372794395",".",".",".",".",".",10.98,5.69,".",".",".","."]
["chr3",123419184,123419219,"GCAGGCTTGGCGTTGCCCATTGGCTTCAGGGTCTCA","-","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",{"v":0.001098901098901099,"d":"0.0010989"},2,1820,0.0001,0.0003,".",".",".",".",".","rs758966808",".",".",".",".",".",9.198,5.54,".",".",".","."]
["chr3",123419508,123419508,"T","G","chr3_123419508_123419508_T_G","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon17:c.A2600C:p.K867T,MYLK:NM_053028:exon17:c.A2600C:p.K867T,MYLK:NM_053025:exon18:c.A2807C:p.K936T,MYLK:NM_053027:exon18:c.A2807C:p.K936T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D",".","D",22.7,4.99,".",".",".","."]
["chr3",123419524,123419524,"G","A","chr3_123419524_123419524_G_A","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon17:c.C2584T:p.R862W,MYLK:NM_053028:exon17:c.C2584T:p.R862W,MYLK:NM_053025:exon18:c.C2791T:p.R931W,MYLK:NM_053027:exon18:c.C2791T:p.R931W",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.825e-05,"d":"2.83E-05"},0,".",".",".",".",".","rs762375833","D","D","D",".","D",25.1,4.99,".",".",".","."]
["chr3",123419556,123419556,"G","T","chr3_123419556_123419556_G_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon17:c.C2552A:p.A851D,MYLK:NM_053028:exon17:c.C2552A:p.A851D,MYLK:NM_053025:exon18:c.C2759A:p.A920D,MYLK:NM_053027:exon18:c.C2759A:p.A920D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D",".","D",21.9,4.99,".",".",".","."]
["chr3",123419573,123419573,"G","T","chr3_123419573_123419573_G_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon17:c.C2535A:p.D845E,MYLK:NM_053028:exon17:c.C2535A:p.D845E,MYLK:NM_053025:exon18:c.C2742A:p.D914E,MYLK:NM_053027:exon18:c.C2742A:p.D914E",{"v":0.5049884881043745,"d":"0.5049885"},1316,2606,0.1101,0.554,0.050131,0.226038,0.5496,".",".","rs3732487","T","B","B",".","P",0.005,-0.822,".",".",".","."]
["chr3",123419733,123419733,"A","G","chr3_123419733_123419733_A_G","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon17:c.T2375C:p.L792P,MYLK:NM_053028:exon17:c.T2375C:p.L792P,MYLK:NM_053025:exon18:c.T2582C:p.L861P,MYLK:NM_053027:exon18:c.T2582C:p.L861P",{"v":0.5044964028776978,"d":"0.5044964"},1122,2224,0.1275,0.5552,0.099877,0.278954,0.5526,".",".","rs3732486","T","B","B",".","P",15.57,4.77,".",".",".","."]
["chr3",123419782,123419782,"G","A","chr3_123419782_123419782_G_A","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon17:c.C2326T:p.R776C,MYLK:NM_053028:exon17:c.C2326T:p.R776C,MYLK:NM_053025:exon18:c.C2533T:p.R845C,MYLK:NM_053027:exon18:c.C2533T:p.R845C",{"v":0.03568202348690153,"d":"0.0356820"},79,2214,0.0297,0.0471,0.006312,0.0451278,0.0526,".",".","rs3732485","T","B","B",".","N",13.35,1.3,".",".",".","."]
["chr3",123426686,123426686,"C","T","chr3_123426686_123426686_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon15:c.G2098A:p.E700K,MYLK:NM_053028:exon15:c.G2098A:p.E700K,MYLK:NM_053025:exon16:c.G2305A:p.E769K,MYLK:NM_053027:exon16:c.G2305A:p.E769K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0,".",0.000199681,".",".",".","rs201806277","T","D","D",".","D",24.2,4.99,".",".",".","."]
["chr3",123426808,123426808,"C","T","chr3_123426808_123426808_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon15:c.G1976A:p.R659H,MYLK:NM_053028:exon15:c.G1976A:p.R659H,MYLK:NM_053025:exon16:c.G2183A:p.R728H,MYLK:NM_053027:exon16:c.G2183A:p.R728H",{"v":0.0015600624024961,"d":"0.0015601"},4,2564,{"v":8.529e-05,"d":"8.53E-05"},0.0001,7.7e-05,".",".",".",".","rs370154845","T","D","D",".","D",33,4.99,".",".",".","."]
["chr3",123426842,123426842,"C","A","chr3_123426842_123426842_C_A","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon15:c.G1942T:p.D648Y,MYLK:NM_053028:exon15:c.G1942T:p.D648Y,MYLK:NM_053025:exon16:c.G2149T:p.D717Y,MYLK:NM_053027:exon16:c.G2149T:p.D717Y",{"v":0.002544529262086514,"d":"0.0025445"},2,786,0.0003,0.0033,".",0.00239617,0.0109,"Likely pathogenic","Aortic_aneurysm,_familial_thoracic_7","rs150936840","D","D","D",".","D",25.9,4.99,".",".",".","."]
["chr3",123427599,123427599,"C","T","chr3_123427599_123427599_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon14:c.G1879A:p.E627K,MYLK:NM_053028:exon14:c.G1879A:p.E627K,MYLK:NM_053025:exon15:c.G2086A:p.E696K,MYLK:NM_053027:exon15:c.G2086A:p.E696K",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":2.83e-05,"d":"2.83E-05"},0.0001,".",".",".",".",".","rs769548990","T","D","P",".","D",23.5,4.46,".",".",".","."]
["chr3",123427625,123427625,"G","A","chr3_123427625_123427625_G_A","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon14:c.C1853T:p.P618L,MYLK:NM_053028:exon14:c.C1853T:p.P618L,MYLK:NM_053025:exon15:c.C2060T:p.P687L,MYLK:NM_053027:exon15:c.C2060T:p.P687L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":7.536e-05,"d":"7.54E-05"},0,0.000154,".",".",".",".","rs144923036","T","D","P",".","D",25,4.29,".",".",".","."]
["chr3",123427662,123427662,"C","T","chr3_123427662_123427662_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053026:exon14:c.G1816A:p.G606R,MYLK:NM_053028:exon14:c.G1816A:p.G606R,MYLK:NM_053025:exon15:c.G2023A:p.G675R,MYLK:NM_053027:exon15:c.G2023A:p.G675R",{"v":0.019570222563315427,"d":"0.0195702"},51,2606,0.0007,0.0092,".",0.000599042,0.003,".",".","rs147008323","D","D","D",".","D",28.8,4.28,".",".",".","."]
["chr3",123451778,123451778,"C","T","chr3_123451778_123451778_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon11:c.G1481A:p.G494D,MYLK:NM_053027:exon11:c.G1481A:p.G494D",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","D",".","D",24.6,5.29,".",".",".","."]
["chr3",123451932,123451932,"G","T","chr3_123451932_123451932_G_T","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon11:c.C1327A:p.P443T,MYLK:NM_053027:exon11:c.C1327A:p.P443T",{"v":0.004230769230769231,"d":"0.0042308"},11,2600,{"v":7.989e-05,"d":"7.99E-05"},0.0011,".",".",".",".",".","rs35156360","D","D","D",".","D",23.8,5.42,".",".",".","."]
["chr3",123452630,123452630,"T","C","chr3_123452630_123452630_T_C","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon10:c.A1213G:p.M405V,MYLK:NM_053026:exon10:c.A1213G:p.M405V,MYLK:NM_053027:exon10:c.A1213G:p.M405V,MYLK:NM_053028:exon10:c.A1213G:p.M405V",{"v":0.0013623978201634877,"d":"0.0013624"},3,2202,{"v":5.649e-05,"d":"5.65E-05"},0.0006,".",0.000199681,0.001,".",".","rs35436690","T","B","B",".","N",0.001,-5.6,".",".",".","."]
["chr3",123452812,123452812,"G","A","chr3_123452812_123452812_G_A","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon10:c.C1031T:p.S344F,MYLK:NM_053026:exon10:c.C1031T:p.S344F,MYLK:NM_053027:exon10:c.C1031T:p.S344F,MYLK:NM_053028:exon10:c.C1031T:p.S344F",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","D","P","B",".","N",23.3,5.43,".",".",".","."]
["chr3",123452864,123452864,"C","T","chr3_123452864_123452864_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon10:c.G979A:p.D327N,MYLK:NM_053026:exon10:c.G979A:p.D327N,MYLK:NM_053027:exon10:c.G979A:p.D327N,MYLK:NM_053028:exon10:c.G979A:p.D327N",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,".",".",".",".",".",".",".","rs748066216","D","B","B",".","N",3.907,1.43,".",".",".","."]
["chr3",123453061,123453061,"A","G","chr3_123453061_123453061_A_G","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon10:c.T782C:p.V261A,MYLK:NM_053026:exon10:c.T782C:p.V261A,MYLK:NM_053027:exon10:c.T782C:p.V261A,MYLK:NM_053028:exon10:c.T782C:p.V261A",{"v":0.43434343434343436,"d":"0.4343434"},1118,2574,0.1186,0.4712,0.156312,0.301917,0.4573,".",".","rs3796164","T","B","B",".","P",11.83,-0.086,".",".",".","."]
["chr3",123454263,123454263,"C","T","chr3_123454263_123454263_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon9:c.G755A:p.G252D,MYLK:NM_053026:exon9:c.G755A:p.G252D,MYLK:NM_053027:exon9:c.G755A:p.G252D,MYLK:NM_053028:exon9:c.G755A:p.G252D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D",".","D",27.6,4.7,".",".",".","."]
["chr3",123456267,123456267,"C","T","chr3_123456267_123456267_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon8:c.G712A:p.G238R,MYLK:NM_053026:exon8:c.G712A:p.G238R,MYLK:NM_053027:exon8:c.G712A:p.G238R,MYLK:NM_053028:exon8:c.G712A:p.G238R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.415e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs771169789","T","D","D",".","N",23.4,5.2,".",".",".","."]
["chr3",123457866,123457866,"A","C","chr3_123457866_123457866_A_C","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon7:c.T466G:p.W156G,MYLK:NM_053026:exon7:c.T466G:p.W156G,MYLK:NM_053027:exon7:c.T466G:p.W156G,MYLK:NM_053028:exon7:c.T466G:p.W156G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D",".","D",20.7,4.52,".",".",".","."]
["chr3",123457893,123457893,"G","A","chr3_123457893_123457893_G_A","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon7:c.C439T:p.P147S,MYLK:NM_053026:exon7:c.C439T:p.P147S,MYLK:NM_053027:exon7:c.C439T:p.P147S,MYLK:NM_053028:exon7:c.C439T:p.P147S",{"v":0.9405218726016884,"d":"0.9405219"},2451,2606,0.9425,0.9384,0.872443,0.85623,0.9435,"Benign","not_specified","rs9840993","T","B","B",".","P",8.43,1.3,".",".",".","."]
["chr3",123471207,123471207,"C","T","chr3_123471207_123471207_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon5:c.G344A:p.R115H,MYLK:NM_053026:exon5:c.G344A:p.R115H,MYLK:NM_053027:exon5:c.G344A:p.R115H,MYLK:NM_053028:exon5:c.G344A:p.R115H",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,0.0001,0,0.000231,0.000199681,".",".",".","rs141131535","T","D","D",".","D",24.7,4.36,".",".",".","."]
["chr3",123471214,123471214,"C","T","chr3_123471214_123471214_C_T","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon5:c.G337A:p.G113S,MYLK:NM_053026:exon5:c.G337A:p.G113S,MYLK:NM_053027:exon5:c.G337A:p.G113S,MYLK:NM_053028:exon5:c.G337A:p.G113S",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,".",".",".",".",".",".",".",".","D","D","D",".","D",25.5,5.25,".",".",".","."]
["chr3",123471295,123471295,"G","A","chr3_123471295_123471295_G_A","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon5:c.C256T:p.R86W,MYLK:NM_053026:exon5:c.C256T:p.R86W,MYLK:NM_053027:exon5:c.C256T:p.R86W,MYLK:NM_053028:exon5:c.C256T:p.R86W",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0002,0.001,7.7e-05,".",".",".",".","rs368822172","D","D","D",".","D",33,4.31,".",".",".","."]
["chr3",123512627,123512627,"G","T","chr3_123512627_123512627_G_T","MYLK","nonsynonymous SNV","MYLK:NM_053025:exon4:c.C62A:p.P21H,MYLK:NM_053026:exon4:c.C62A:p.P21H,MYLK:NM_053027:exon4:c.C62A:p.P21H,MYLK:NM_053028:exon4:c.C62A:p.P21H",{"v":0.05947812739831159,"d":"0.0594781"},155,2606,0.1283,0.0639,0.184915,0.197284,0.0556,".",".","rs28497577","T","B","B",".","P",15.46,0.146,".",".",".","."]
["chr5",112090682,112090682,"A","G","chr5_112090682_112090682_A_G","APC","nonsynonymous SNV","APC:NM_000038:exon2:c.A95G:p.N32S,APC:NM_001127510:exon3:c.A95G:p.N32S",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":7.538e-05,"d":"7.54E-05"},0.0003,".",0.000199681,".","Uncertain significance|Uncertain significance","not_specified|Familial_adenomatous_polyposis_1","rs539108537","T","P","B","D","D",10.46,4.51,".",".",".","."]
["chr5",112102940,112102940,"C","G","chr5_112102940_112102940_C_G","APC","nonsynonymous SNV","APC:NM_001127511:exon3:c.C305G:p.S102C,APC:NM_000038:exon4:c.C275G:p.S92C,APC:NM_001127510:exon5:c.C275G:p.S92C",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":9.421e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs769708176","D","D","D","D","D",26.5,5.48,".",".",".","."]
["chr5",112103057,112103057,"C","T","chr5_112103057_112103057_C_T","APC","nonsynonymous SNV","APC:NM_001127511:exon3:c.C422T:p.T141I,APC:NM_000038:exon4:c.C392T:p.T131I,APC:NM_001127510:exon5:c.C392T:p.T131I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",15.28,4.55,".",".",".","."]
["chr5",112116547,112116547,"G","A","chr5_112116547_112116547_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon5:c.G622A:p.V208I,APC:NM_000038:exon6:c.G592A:p.V198I,APC:NM_001127510:exon7:c.G592A:p.V198I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","D","N",23.6,5.45,".",".",".","."]
["chr5",112137003,112137003,"G","A","chr5_112137003_112137003_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon6:c.G703A:p.G235S,APC:NM_000038:exon8:c.G757A:p.G253S,APC:NM_001127510:exon9:c.G757A:p.G253S",{"v":0.0023023791250959325,"d":"0.0023024"},6,2606,{"v":9.581e-06,"d":"9.58E-06"},0.0001,".",".",".",".",".","rs772806807","T","B","B","N","N",9.094,1.2,".",".",".","."]
["chr5",112151233,112151233,"G","C","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",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","P","B","N","N",19.25,5.11,"CM1511865","DM","Low","Thyroid cancer  non-medullary:876G>C"]
["chr5",112154867,112154867,"C","T","chr5_112154867_112154867_C_T","APC","nonsynonymous SNV","APC:NM_001127511:exon8:c.C1084T:p.R362W,APC:NM_000038:exon10:c.C1138T:p.R380W,APC:NM_001127510:exon11:c.C1138T:p.R380W",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",33,5.05,".",".",".","."]
["chr5",112155005,112155005,"G","T","chr5_112155005_112155005_G_T","APC","nonsynonymous SNV","APC:NM_001127511:exon8:c.G1222T:p.A408S,APC:NM_000038:exon10:c.G1276T:p.A426S,APC:NM_001127510:exon11:c.G1276T:p.A426S",{"v":0.0015444015444015444,"d":"0.0015444"},4,2590,0.0001,0.001,".",0.000399361,0.002,".",".","rs200598389","T","B","B","N","D",12.3,5.79,".",".",".","."]
["chr5",112157673,112157673,"G","A","chr5_112157673_112157673_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon9:c.G1339A:p.A447T,APC:NM_000038:exon11:c.G1393A:p.A465T,APC:NM_001127510:exon12:c.G1393A:p.A465T",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,".",".",".",".",".",".",".",".","T","D","D","D","D",23.9,5.2,".",".",".","."]
["chr5",112164599,112164599,"A","G","chr5_112164599_112164599_A_G","APC","nonsynonymous SNV","APC:NM_001127511:exon12:c.A1619G:p.N540S,APC:NM_000038:exon14:c.A1673G:p.N558S,APC:NM_001127510:exon15:c.A1673G:p.N558S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",17.08,5.62,".",".",".","."]
["chr5",112170757,112170757,"G","A","chr5_112170757_112170757_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon13:c.G1799A:p.G600D,APC:NM_000038:exon15:c.G1853A:p.G618D,APC:NM_001127510:exon16:c.G1853A:p.G618D",{"v":0.0003866976024748647,"d":"0.0003867"},1,2586,".",".",".",".",".",".",".",".","T","B","B","D","D",22.6,5.93,".",".",".","."]
["chr5",112170835,112170835,"G","C","chr5_112170835_112170835_G_C","APC","nonsynonymous SNV","APC:NM_001127511:exon13:c.G1877C:p.S626T,APC:NM_000038:exon15:c.G1931C:p.S644T,APC:NM_001127510:exon16:c.G1931C:p.S644T",{"v":0.00047080979284369113,"d":"0.0004708"},1,2124,".",".",".",".",".",".",".",".","D","P","B","D","D",23.5,5.49,".",".",".","."]
["chr5",112173275,112173275,"C","A","chr5_112173275_112173275_C_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C1930A:p.L644I,APC:NM_000038:exon16:c.C1984A:p.L662I,APC:NM_001127510:exon17:c.C1984A:p.L662I",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":5.68e-05,"d":"5.68E-05"},0.0008,".",".",".",".",".","rs756859993","T","D","D","D","D",24.6,2.83,".",".",".","."]
["chr5",112173550,112173550,"T","G","chr5_112173550_112173550_T_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T2205G:p.H735Q,APC:NM_000038:exon16:c.T2259G:p.H753Q,APC:NM_001127510:exon17:c.T2259G:p.H753Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.455e-06,"d":"9.46E-06"},0.0001,".",".",".",".",".","rs763155470","T","B","B","D","D",19.1,3.85,".",".",".","."]
["chr5",112173615,112173615,"A","G","chr5_112173615_112173615_A_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A2270G:p.N757S,APC:NM_000038:exon16:c.A2324G:p.N775S,APC:NM_001127510:exon17:c.A2324G:p.N775S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",11.38,6.16,".",".",".","."]
["chr5",112174451,112174451,"C","A","chr5_112174451_112174451_C_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C3106A:p.H1036N,APC:NM_000038:exon16:c.C3160A:p.H1054N,APC:NM_001127510:exon17:c.C3160A:p.H1054N",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","P","D","D",26.1,5.76,".",".",".","."]
["chr5",112174523,112174523,"T","G","chr5_112174523_112174523_T_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T3178G:p.Y1060D,APC:NM_000038:exon16:c.T3232G:p.Y1078D,APC:NM_001127510:exon17:c.T3232G:p.Y1078D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",23.1,5.61,".",".",".","."]
["chr5",112174605,112174605,"G","A","chr5_112174605_112174605_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G3260A:p.R1087Q,APC:NM_000038:exon16:c.G3314A:p.R1105Q,APC:NM_001127510:exon17:c.G3314A:p.R1105Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.887e-05,"d":"1.89E-05"},0.0001,".",0.000199681,0.001,"Uncertain significance","Familial_adenomatous_polyposis_1","rs548176472","D","D","D","D","D",28.6,5.76,".",".",".","."]
["chr5",112174665,112174665,"T","C","chr5_112174665_112174665_T_C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T3320C:p.V1107A,APC:NM_000038:exon16:c.T3374C:p.V1125A,APC:NM_001127510:exon17:c.T3374C:p.V1125A",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,0.0006,0.0083,".",".",".","Benign|Uncertain significance","Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome","rs377278397","T","B","B","N","D",7.885,5.76,"CM080061","DM","High","Colorectal adenoma:3374T>C"]
["chr5",112174669,112174669,"C","G","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",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":5.66e-05,"d":"5.66E-05"},0.0008,".",0.000199681,0.001,"Uncertain significance|not provided","Hereditary_cancer-predisposing_syndrome|not_specified","rs149353082","D","B","B","N","D",21.5,4,"CM104019","DM","High","Adenomatous polyposis coli:3378C>G"]
["chr5",112174736,112174738,"GAA","-","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",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,{"v":1.888e-05,"d":"1.89E-05"},0,".",".",".",".",".","rs761327787",".",".",".",".",".",15.28,5.76,".",".",".","."]
["chr5",112174944,112174944,"C","T","chr5_112174944_112174944_C_T","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C3599T:p.T1200M,APC:NM_000038:exon16:c.C3653T:p.T1218M,APC:NM_001127510:exon17:c.C3653T:p.T1218M",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":1.887e-05,"d":"1.89E-05"},0,7.7e-05,".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs377640390","D","P","B","N","N",17.41,5.04,".",".",".","."]
["chr5",112175051,112175051,"A","G","chr5_112175051_112175051_A_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A3706G:p.I1236V,APC:NM_000038:exon16:c.A3760G:p.I1254V,APC:NM_001127510:exon17:c.A3760G:p.I1254V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.45e-06,"d":"9.45E-06"},0,".",".",".",".",".","rs769504783","T","P","P","N","D",19.25,4.88,".",".",".","."]
["chr5",112175166,112175166,"C","T","chr5_112175166_112175166_C_T","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C3821T:p.T1274M,APC:NM_000038:exon16:c.C3875T:p.T1292M,APC:NM_001127510:exon17:c.C3875T:p.T1292M",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":4.724e-05,"d":"4.72E-05"},0.0001,0.000231,".",".","not provided|Uncertain significance|Uncertain significance","not_specified|Hereditary_cancer-predisposing_syndrome|Familial_adenomatous_polyposis_1","rs371113837","D","B","B","N","N",19.88,2.91,".",".",".","."]
["chr5",112175346,112175346,"T","C","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.771e-05,"d":"3.77E-05"},0.0005,".",0.000199681,0.001,"Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs528724202","D","P","B","N","D",7.976,4.84,"CM080063","DM","High","Colorectal adenoma:4055T>C"]
["chr5",112175583,112175583,"T","C","chr5_112175583_112175583_T_C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T4238C:p.M1413T,APC:NM_000038:exon16:c.T4292C:p.M1431T,APC:NM_001127510:exon17:c.T4292C:p.M1431T",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","D","D","D",24.5,6.07,".",".",".","."]
["chr5",112175645,112175645,"G","A","chr5_112175645_112175645_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G4300A:p.V1434I,APC:NM_000038:exon16:c.G4354A:p.V1452I,APC:NM_001127510:exon17:c.G4354A:p.V1452I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","D",13.8,6.16,".",".",".","."]
["chr5",112176056,112176056,"C","T","chr5_112176056_112176056_C_T","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C4711T:p.R1571C,APC:NM_000038:exon16:c.C4765T:p.R1589C,APC:NM_001127510:exon17:c.C4765T:p.R1589C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0,".",".",".","Uncertain significance,Likely benign","Hereditary_cancer-predisposing_syndrome,Familial_adenomatous_polyposis_1","rs72541813","D","D","P","N","D",29.1,5.3,".",".",".","."]
["chr5",112176204,112176204,"T","C","chr5_112176204_112176204_T_C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T4859C:p.M1620T,APC:NM_000038:exon16:c.T4913C:p.M1638T,APC:NM_001127510:exon17:c.T4913C:p.M1638T",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":2.825e-05,"d":"2.83E-05"},0.0001,".",0.000399361,0.002,".",".","rs201797422","T","B","B","D","D",12.73,6.16,".",".",".","."]
["chr5",112176504,112176504,"A","C","chr5_112176504_112176504_A_C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A5159C:p.H1720P,APC:NM_000038:exon16:c.A5213C:p.H1738P,APC:NM_001127510:exon17:c.A5213C:p.H1738P",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,{"v":1.888e-05,"d":"1.89E-05"},0.0003,".",0.000199681,0.001,"Uncertain significance","Familial_adenomatous_polyposis_1","rs149882057","T","D","D","D","D",22.8,6.16,".",".",".","."]
["chr5",112176548,112176548,"G","C","chr5_112176548_112176548_G_C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G5203C:p.A1735P,APC:NM_000038:exon16:c.G5257C:p.A1753P,APC:NM_001127510:exon17:c.G5257C:p.A1753P",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,{"v":1.891e-05,"d":"1.89E-05"},0.0003,".",".",".","Uncertain significance,Uncertain significance","Hereditary_cancer-predisposing_syndrome,Hereditary_cancer-predisposing_syndrome","rs587781350","T","B","B","D","D",11.47,6.16,".",".",".","."]
["chr5",112176578,112176578,"A","G","chr5_112176578_112176578_A_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A5233G:p.N1745D,APC:NM_000038:exon16:c.A5287G:p.N1763D,APC:NM_001127510:exon17:c.A5287G:p.N1763D",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B","N","D",3.952,6.16,".",".",".","."]
["chr5",112176669,112176669,"C","G","chr5_112176669_112176669_C_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C5324G:p.A1775G,APC:NM_000038:exon16:c.C5378G:p.A1793G,APC:NM_001127510:exon17:c.C5378G:p.A1793G",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":9.553e-06,"d":"9.55E-06"},0.0001,".",".",".",".",".","rs764203580","D","B","B","N","N",11.54,3.37,".",".",".","."]
["chr5",112176756,112176756,"T","A","chr5_112176756_112176756_T_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D",{"v":0.9201841903300076,"d":"0.9201842"},2398,2606,0.7991,0.9024,0.826257,0.865415,0.9008,"Benign|Benign|Benign|other|Benign","Familial_adenomatous_polyposis_1|not_provided|not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome","rs459552","T","B","B","N","P",13.24,3.59,".",".",".","."]
["chr5",112176831,112176831,"C","T","chr5_112176831_112176831_C_T","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C5486T:p.T1829M,APC:NM_000038:exon16:c.C5540T:p.T1847M,APC:NM_001127510:exon17:c.C5540T:p.T1847M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.833e-05,"d":"2.83E-05"},0,7.7e-05,".",".",".",".","rs371686531","D","D","D","D","D",28.5,6.07,".",".",".","."]
["chr5",112176926,112176926,"G","T","chr5_112176926_112176926_G_T","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G5581T:p.A1861S,APC:NM_000038:exon16:c.G5635T:p.A1879S,APC:NM_001127510:exon17:c.G5635T:p.A1879S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.44e-06,"d":"9.44E-06"},0,".",".",".","Uncertain significance|Uncertain significance","Hereditary_cancer-predisposing_syndrome|Familial_adenomatous_polyposis_1","rs587779799","D","B","B","D","D",20.2,6.07,".",".",".","."]
["chr5",112176978,112176978,"G","A","chr5_112176978_112176978_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G5633A:p.S1878N,APC:NM_000038:exon16:c.G5687A:p.S1896N,APC:NM_001127510:exon17:c.G5687A:p.S1896N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs751088165","T","B","B","N","N",0.002,2.65,".",".",".","."]
["chr5",112177203,112177203,"C","G","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":8.523e-05,"d":"8.52E-05"},0.0012,".",".",".","Uncertain significance|Uncertain significance","Hereditary_cancer-predisposing_syndrome|Familial_adenomatous_polyposis_1","rs754691867","D","D","D","D","D",25.6,5.86,"CM044572","DM","High","Adenomatous polyposis coli:5912C>G"]
["chr5",112177472,112177472,"G","C","chr5_112177472_112177472_G_C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G6127C:p.E2043Q,APC:NM_000038:exon16:c.G6181C:p.E2061Q,APC:NM_001127510:exon17:c.G6181C:p.E2061Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","P","D","D",14.74,5.9,".",".",".","."]
["chr5",112177778,112177778,"A","C","chr5_112177778_112177778_A_C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A6433C:p.K2145Q,APC:NM_000038:exon16:c.A6487C:p.K2163Q,APC:NM_001127510:exon17:c.A6487C:p.K2163Q",{"v":0.0013489208633093526,"d":"0.0013489"},3,2224,{"v":3.813e-05,"d":"3.81E-05"},0.0005,".",".",".",".",".","rs759728732","D","D","P","D","D",22.7,6.02,".",".",".","."]
["chr5",112178001,112178001,"G","A","chr5_112178001_112178001_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G6656A:p.R2219Q,APC:NM_000038:exon16:c.G6710A:p.R2237Q,APC:NM_001127510:exon17:c.G6710A:p.R2237Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","P","D","D",25.3,6.02,".",".",".","."]
["chr5",112178045,112178045,"C","G","chr5_112178045_112178045_C_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C6700G:p.P2234A,APC:NM_000038:exon16:c.C6754G:p.P2252A,APC:NM_001127510:exon17:c.C6754G:p.P2252A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.463e-06,"d":"9.46E-06"},0.0001,".",".",".","not provided","not_specified","rs587778035","T","B","B","D","D",5.267,3.95,".",".",".","."]
["chr5",112178256,112178256,"A","G","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",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","D","D","D","D",22.4,5.75,"CM126412","DM","High","Adenomatous polyposis coli:6965A>G"]
["chr5",112178292,112178292,"A","G","chr5_112178292_112178292_A_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A6947G:p.N2316S,APC:NM_000038:exon16:c.A7001G:p.N2334S,APC:NM_001127510:exon17:c.A7001G:p.N2334S",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","D","D","D","D",16.89,5.9,".",".",".","."]
["chr5",112178352,112178352,"C","T","chr5_112178352_112178352_C_T","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C7007T:p.A2336V,APC:NM_000038:exon16:c.C7061T:p.A2354V,APC:NM_001127510:exon17:c.C7061T:p.A2354V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","D",18.87,5.03,".",".",".","."]
["chr5",112178426,112178426,"A","C","chr5_112178426_112178426_A_C","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A7081C:p.T2361P,APC:NM_000038:exon16:c.A7135C:p.T2379P,APC:NM_001127510:exon17:c.A7135C:p.T2379P",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","N","N",17.26,3.32,".",".",".","."]
["chr5",112178441,112178441,"T","A","chr5_112178441_112178441_T_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T7096A:p.L2366I,APC:NM_000038:exon16:c.T7150A:p.L2384I,APC:NM_001127510:exon17:c.T7150A:p.L2384I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":4.715e-05,"d":"4.72E-05"},0.0006,".",".",".",".",".","rs755345693","T","B","B","N","N",8.371,0.68,".",".",".","."]
["chr5",112178795,112178795,"G","A","chr5_112178795_112178795_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G7450A:p.G2484S,APC:NM_000038:exon16:c.G7504A:p.G2502S,APC:NM_001127510:exon17:c.G7504A:p.G2502S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0198,0,0.014534,0.00838658,".","Benign|Benign|Benign|Benign","not_provided|not_specified|Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome","rs2229995","T","B","B","D","D",20.2,5.95,"CM042292","DM","Low","Adenomatous polyposis coli:7504G>A"]
["chr5",112179032,112179032,"A","G","chr5_112179032_112179032_A_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A7687G:p.S2563G,APC:NM_000038:exon16:c.A7741G:p.S2581G,APC:NM_001127510:exon17:c.A7741G:p.S2581G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","D","D",23.4,5.97,".",".",".","."]
["chr5",112179199,112179201,"TGG","-","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",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",16.18,6.17,".",".",".","."]
["chr5",112179260,112179260,"G","A","chr5_112179260_112179260_G_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.G7915A:p.V2639I,APC:NM_000038:exon16:c.G7969A:p.V2657I,APC:NM_001127510:exon17:c.G7969A:p.V2657I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.439e-06,"d":"9.44E-06"},0.0001,".",".",".",".",".","rs769433536","T","D","D","D","D",14.64,5.31,".",".",".","."]
["chr5",112179297,112179297,"C","G","chr5_112179297_112179297_C_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C7952G:p.P2651R,APC:NM_000038:exon16:c.C8006G:p.P2669R,APC:NM_001127510:exon17:c.C8006G:p.P2669R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",26,6.17,".",".",".","."]
["chr5",112179308,112179308,"A","G","chr5_112179308_112179308_A_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.A7963G:p.R2655G,APC:NM_000038:exon16:c.A8017G:p.R2673G,APC:NM_001127510:exon17:c.A8017G:p.R2673G",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.429e-06,"d":"9.43E-06"},0.0001,".",".",".","Uncertain significance|Uncertain significance","Familial_adenomatous_polyposis_1|not_specified","rs767286063","D","P","P","D","D",23.1,3.73,".",".",".","."]
["chr5",112179456,112179456,"T","A","chr5_112179456_112179456_T_A","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.T8111A:p.L2704Q,APC:NM_000038:exon16:c.T8165A:p.L2722Q,APC:NM_001127510:exon17:c.T8165A:p.L2722Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","D",15.77,4.99,".",".",".","."]
["chr5",112179488,112179488,"C","G","chr5_112179488_112179488_C_G","APC","nonsynonymous SNV","APC:NM_001127511:exon14:c.C8143G:p.Q2715E,APC:NM_000038:exon16:c.C8197G:p.Q2733E,APC:NM_001127510:exon17:c.C8197G:p.Q2733E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","N",7.2,5.08,".",".",".","."]
["chr5",112179623,112179623,"G","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0002,0.0024,".",".",".","not provided|Uncertain significance|Likely benign","not_specified|Hereditary_cancer-predisposing_syndrome|Familial_adenomatous_polyposis_1","rs587778046","D","D","D","D","D",26.3,5.92,"CM1511866","DM","Low","Thyroid cancer  non-medullary:8332G>T"]
["chr6",7542203,7542203,"C","G","chr6_7542203_7542203_C_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon1:c.C55G:p.R19G,DSP:NM_004415:exon1:c.C55G:p.R19G",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","D","D","D","D","D",34,3.67,".",".",".","."]
["chr6",7556049,7556049,"A","G","chr6_7556049_7556049_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon2:c.A269G:p.Q90R,DSP:NM_004415:exon2:c.A269G:p.Q90R",{"v":0.007097791798107256,"d":"0.0070978"},18,2536,0.0007,0.0098,".",0.000998403,0.005,"Uncertain significance|Uncertain significance","not_specified|not_provided","rs188516326","D","D","D","D","D",26.6,5.88,"CM063959","DM","High","Cardiomyopathy  arrhythmogenic right ventricular:269A>G"]
["chr6",7558419,7558419,"A","G","chr6_7558419_7558419_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon3:c.A344G:p.N115S,DSP:NM_004415:exon3:c.A344G:p.N115S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":5.65e-05,"d":"5.65E-05"},0.0004,".",0.000199681,".",".",".","rs28763958","D","D","D","D","D",16.61,5.82,".",".",".","."]
["chr6",7559587,7559587,"C","T","chr6_7559587_7559587_C_T","DSP","nonsynonymous SNV","DSP:NM_001008844:exon4:c.C551T:p.T184I,DSP:NM_004415:exon4:c.C551T:p.T184I",{"v":0.00039093041438623924,"d":"0.0003909"},1,2558,".",".",".",".",".",".",".",".","D","D","D","D","D",29.3,5.66,".",".",".","."]
["chr6",7568755,7568755,"G","A","chr6_7568755_7568755_G_A","DSP","nonsynonymous SNV","DSP:NM_001008844:exon11:c.G1352A:p.R451H,DSP:NM_004415:exon11:c.G1352A:p.R451H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance","not_specified","rs786204294","D","D","D","D","D",33,5.9,".",".",".","."]
["chr6",7569425,7569425,"G","A","chr6_7569425_7569425_G_A","DSP","nonsynonymous SNV","DSP:NM_001008844:exon12:c.G1426A:p.V476M,DSP:NM_004415:exon12:c.G1426A:p.V476M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":4.708e-05,"d":"4.71E-05"},0.0001,0.000154,0.000199681,".","Uncertain significance","not_provided","rs367987327","T","D","P","D","D",25.4,5.37,".",".",".","."]
["chr6",7569468,7569468,"G","A","chr6_7569468_7569468_G_A","DSP","nonsynonymous SNV","DSP:NM_001008844:exon12:c.G1469A:p.R490H,DSP:NM_004415:exon12:c.G1469A:p.R490H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.766e-05,"d":"3.77E-05"},0.0001,".",".",".",".",".","rs747815091","T","D","D","D","D",29.9,5.52,".",".",".","."]
["chr6",7569480,7569480,"A","T","chr6_7569480_7569480_A_T","DSP","nonsynonymous SNV","DSP:NM_001008844:exon12:c.A1481T:p.Y494F,DSP:NM_004415:exon12:c.A1481T:p.Y494F",{"v":0.11396776669224866,"d":"0.1139678"},297,2606,0.0126,0.0775,0.000538,0.0177716,0.0714,"other","not_specified","rs28763961","T","B","B","N","N",19.99,5.53,"CM1010260","DM","Low","Cardiomyopathy  arrhythmogenic right ventricular:1481A>T"]
["chr6",7574395,7574395,"C","G","chr6_7574395_7574395_C_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon16:c.C2207G:p.S736C,DSP:NM_004415:exon16:c.C2207G:p.S736C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","D",20.7,5.51,".",".",".","."]
["chr6",7574424,7574424,"G","A","chr6_7574424_7574424_G_A","DSP","nonsynonymous SNV","DSP:NM_001008844:exon16:c.G2236A:p.V746I,DSP:NM_004415:exon16:c.G2236A:p.V746I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",14.08,2.29,".",".",".","."]
["chr6",7574952,7574952,"A","G","chr6_7574952_7574952_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon17:c.A2360G:p.Y787C,DSP:NM_004415:exon17:c.A2360G:p.Y787C",{"v":0.003852080123266564,"d":"0.0038521"},10,2596,{"v":9.415e-05,"d":"9.42E-05"},0.0013,".",".",".","Uncertain significance","not_provided","rs778350289","D","D","P","N","D",27,5.82,"CM132696","DM","High","Arrhythmogenic right ventricular dysplasia/cardiomyopathy:2360A>G"]
["chr6",7575559,7575559,"C","T","chr6_7575559_7575559_C_T","DSP","nonsynonymous SNV","DSP:NM_001008844:exon18:c.C2468T:p.S823L,DSP:NM_004415:exon18:c.C2468T:p.S823L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.591e-05,"d":"6.59E-05"},0.0001,0.000231,0.000199681,".","Uncertain significance","not_provided","rs141834182","T","P","B","N","D",26,5.89,".",".",".","."]
["chr6",7575631,7575631,"C","G","chr6_7575631_7575631_C_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon18:c.C2540G:p.P847R,DSP:NM_004415:exon18:c.C2540G:p.P847R",{"v":0.0030698388334612432,"d":"0.0030698"},8,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0004,".",".",".","Uncertain significance","not_specified","rs727504657","T","P","B","D","D",24.1,6.04,".",".",".","."]
["chr6",7575636,7575636,"T","C","chr6_7575636_7575636_T_C","DSP","nonsynonymous SNV","DSP:NM_001008844:exon18:c.T2545C:p.Y849H,DSP:NM_004415:exon18:c.T2545C:p.Y849H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","B","D","D",17.23,6.04,".",".",".","."]
["chr6",7576639,7576639,"A","T","chr6_7576639_7576639_A_T","DSP","nonsynonymous SNV","DSP:NM_001008844:exon19:c.A2743T:p.M915L,DSP:NM_004415:exon19:c.A2743T:p.M915L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","N",22.2,6.02,".",".",".","."]
["chr6",7576659,7576659,"C","G","chr6_7576659_7576659_C_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon19:c.C2763G:p.N921K,DSP:NM_004415:exon19:c.C2763G:p.N921K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.423e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs751813993","T","B","B","D","D",12.88,4.02,".",".",".","."]
["chr6",7578066,7578066,"A","G","chr6_7578066_7578066_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon21:c.A2932G:p.I978V,DSP:NM_004415:exon21:c.A2932G:p.I978V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs780823789","T","B","B","D","D",23.7,5.45,".",".",".","."]
["chr6",7579761,7579761,"G","A","chr6_7579761_7579761_G_A","DSP","nonsynonymous SNV","DSP:NM_001008844:exon23:c.G3338A:p.R1113Q,DSP:NM_004415:exon23:c.G3338A:p.R1113Q",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,{"v":3.774e-05,"d":"3.77E-05"},0.0005,".",".",".",".",".","rs768455823","D","D","D","D","D",26.9,5.25,".",".",".","."]
["chr6",7580124,7580124,"A","G","chr6_7580124_7580124_A_G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.A3701G:p.N1234S",{"v":0.000777000777000777,"d":"0.0007770"},2,2574,0.0001,0.0013,".",".",".","Uncertain significance","not_provided","rs185367490","T","B","B","N","N",0.006,1.54,".",".",".","."]
["chr6",7580319,7580319,"T","C","chr6_7580319_7580319_T_C","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.T3896C:p.M1299T",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".",".",".",".","T","B","B","N","D",4.301,3.9,".",".",".","."]
["chr6",7580328,7580328,"G","A","chr6_7580328_7580328_G_A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G3905A:p.R1302H",{"v":0.0003852080123266564,"d":"0.0003852"},1,2596,{"v":2.836e-05,"d":"2.84E-05"},0.0001,".",".",".",".",".","rs760691999","T","B","B","D","D",23.9,5.17,".",".",".","."]
["chr6",7580346,7580346,"G","A","chr6_7580346_7580346_G_A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G3923A:p.R1308Q",{"v":0.005019305019305019,"d":"0.0050193"},13,2590,0.0012,0.016,7.7e-05,0.00319489,0.0159,"other","not_specified","rs184154918","T","P","B","D","N",15.19,5.27,".",".",".","."]
["chr6",7580445,7580445,"G","A","chr6_7580445_7580445_G_A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G4022A:p.R1341H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":8.495e-05,"d":"8.50E-05"},0.0006,".",0.000199681,0.001,".",".","rs112242645","D","D","B","D","D",27.7,5.51,".",".",".","."]
["chr6",7580466,7580466,"T","G","chr6_7580466_7580466_T_G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.T4043G:p.L1348R",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.887e-05,"d":"1.89E-05"},0.0003,".",".",".",".",".","rs767003564","D","D","D","D","D",24.2,5.51,"CM1312988","DM","High","Cardiomyopathy  arrhythmogenic right ventricular:4043T>G"]
["chr6",7580553,7580553,"T","C","chr6_7580553_7580553_T_C","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.T4130C:p.I1377T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","B","D","D",12.43,5.65,".",".",".","."]
["chr6",7580796,7580796,"G","A","chr6_7580796_7580796_G_A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G4373A:p.R1458Q",{"v":0.001153846153846154,"d":"0.0011538"},3,2600,{"v":6.599e-05,"d":"6.60E-05"},0.0008,0.000154,".",".",".",".","rs370063434","T","P","B","N","N",17.26,5.65,".",".",".","."]
["chr6",7580889,7580889,"T","G","chr6_7580889_7580889_T_G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.T4466G:p.L1489R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.432e-06,"d":"9.43E-06"},0,".",".",".",".",".","rs746782582","T","D","P","D","D",13.72,5.59,".",".",".","."]
["chr6",7580958,7580958,"A","G","chr6_7580958_7580958_A_G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.A4535G:p.Y1512C",{"v":0.2866462010744436,"d":"0.2866462"},747,2606,0.1206,0.2974,0.120944,0.203275,0.2867,"Benign","not_specified","rs2076299","T","P","B","N","P",8.631,1.8,"CM150220","DM","Low","Arrhythmogenic right ventricular cardiomyopathy:4535A>G"]
["chr6",7581080,7581080,"G","A","chr6_7581080_7581080_G_A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G4657A:p.D1553N",{"v":0.0011529592621060721,"d":"0.0011530"},3,2602,{"v":1.89e-05,"d":"1.89E-05"},0.0001,".",".",".","Uncertain significance","Left_ventricular_noncompaction_cardiomyopathy","rs730880084","T","P","B","D","D",21.9,5.58,".",".",".","."]
["chr6",7581164,7581164,"A","G","chr6_7581164_7581164_A_G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.A4741G:p.K1581E",{"v":0.011971268954509178,"d":"0.0119713"},30,2506,0.0002,0.0032,".",0.000599042,0.003,"Likely benign","not_provided","rs186842903","D","B","B","N","D",21.8,5.65,"CM132697","DM","Low","Arrhythmogenic right ventricular dysplasia/cardiomyopathy:4741A>G"]
["chr6",7581173,7581173,"G","A","chr6_7581173_7581173_G_A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G4750A:p.A1584T",{"v":0.00046948356807511736,"d":"0.0004695"},1,2130,0.0003,0.0039,".",0.000599042,0.002,"Uncertain significance|other","not_specified|not_provided","rs191778417","T","B","B","D","N",10.4,5.02,".",".",".","."]
["chr6",7581299,7581301,"AAG","-","chr6_7581299_7581301_AAG_-","DSP","nonframeshift deletion","DSP:NM_004415:exon23:c.4876_4878del:p.1626_1626del",{"v":0.0005506607929515419,"d":"0.0005507"},1,1816,".",".",".",".",".",".",".",".",".",".",".",".",".",12.56,4.87,".",".",".","."]
["chr6",7581309,7581309,"G","T","chr6_7581309_7581309_G_T","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G4886T:p.S1629I",{"v":0.0018001800180018,"d":"0.0018002"},4,2222,{"v":6.688e-05,"d":"6.69E-05"},0.0009,".",0.000199681,0.001,"Uncertain significance","Arrhythmogenic_right_ventricular_cardiomyopathy","rs200243976","D","P","B","N","D",23.4,6.02,".",".",".","."]
["chr6",7581366,7581366,"A","G","chr6_7581366_7581366_A_G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.A4943G:p.Q1648R",{"v":0.0015360983102918587,"d":"0.0015361"},4,2604,0.0002,0.0023,".",0.00119808,0.006,"Likely benign","not_provided","rs202232360","T","P","B","D","D",16.39,6.02,".",".",".","."]
["chr6",7581443,7581443,"A","G","chr6_7581443_7581443_A_G","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.A5020G:p.S1674G",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.004,4.73,".",".",".","."]
["chr6",7581636,7581636,"G","A","chr6_7581636_7581636_G_A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G5213A:p.R1738Q",{"v":0.17881811204911743,"d":"0.1788181"},466,2606,0.1753,0.193,0.194141,0.240415,0.1944,"Benign","not_specified","rs6929069","T","B","B","N","P",7.501,3.24,"CM150224","DM","Low","Arrhythmogenic right ventricular cardiomyopathy:5213G>A"]
["chr6",7581641,7581641,"G","A","chr6_7581641_7581641_G_A","DSP","nonsynonymous SNV","DSP:NM_004415:exon23:c.G5218A:p.E1740K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0012,0,0.000923,0.000399361,".","Uncertain significance|Likely benign","not_specified|not_provided","rs142885240","D","D","B","D","D",10.62,5.09,"CM1511403","DM","Low","Brugada syndrome:5218G>A"]
["chr6",7583112,7583112,"C","T","chr6_7583112_7583112_C_T","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.C3820T:p.R1274C,DSP:NM_004415:exon24:c.C5617T:p.R1873C",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":7.533e-05,"d":"7.53E-05"},0.0005,0.000231,".",".","Uncertain significance","Primary_dilated_cardiomyopathy","rs144392839","D","D","P","D","D",34,5.38,".",".",".","."]
["chr6",7583437,7583437,"A","G","chr6_7583437_7583437_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A4145G:p.Y1382C,DSP:NM_004415:exon24:c.A5942G:p.Y1981C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",23.1,4.29,".",".",".","."]
["chr6",7583911,7583911,"A","G","chr6_7583911_7583911_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A4619G:p.N1540S,DSP:NM_004415:exon24:c.A6416G:p.N2139S",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,{"v":4.718e-05,"d":"4.72E-05"},0.0006,".",".",".",".",".","rs765687440","T","D","P","D","N",10.65,5.37,".",".",".","."]
["chr6",7584294,7584294,"A","T","chr6_7584294_7584294_A_T","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A5002T:p.T1668S,DSP:NM_004415:exon24:c.A6799T:p.T2267S",{"v":0.005372217958557176,"d":"0.0053722"},14,2606,0.0004,0.0048,".",0.000599042,0.003,"Uncertain significance","not_specified","rs181378432","T","B","B","D","N",7.616,3.5,".",".",".","."]
["chr6",7584427,7584427,"C","A","chr6_7584427_7584427_C_A","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.C5135A:p.P1712Q,DSP:NM_004415:exon24:c.C6932A:p.P2311Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","D",26.3,5.21,".",".",".","."]
["chr6",7584448,7584448,"G","C","chr6_7584448_7584448_G_C","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.G5156C:p.R1719T,DSP:NM_004415:exon24:c.G6953C:p.R2318T",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs773192441","T","D","D","D","D",24.1,6.08,".",".",".","."]
["chr6",7584751,7584751,"A","G","chr6_7584751_7584751_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A5459G:p.N1820S,DSP:NM_004415:exon24:c.A7256G:p.N2419S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","P","D","D",24.8,5.7,".",".",".","."]
["chr6",7585340,7585340,"A","C","chr6_7585340_7585340_A_C","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A6048C:p.E2016D,DSP:NM_004415:exon24:c.A7845C:p.E2615D",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","T","B","B","D","N",12.46,-6.69,".",".",".","."]
["chr6",7585378,7585378,"T","C","chr6_7585378_7585378_T_C","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.T6086C:p.L2029P,DSP:NM_004415:exon24:c.T7883C:p.L2628P",{"v":0.0017985611510791368,"d":"0.0017986"},4,2224,0.0002,0.002,7.7e-05,0.000199681,0.001,".",".","rs147484870","D","D","D","D","D",26.6,5.81,".",".",".","."]
["chr6",7585411,7585411,"G","A","chr6_7585411_7585411_G_A","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.G6119A:p.R2040Q,DSP:NM_004415:exon24:c.G7916A:p.R2639Q",{"v":0.015737410071942445,"d":"0.0157374"},35,2224,0.0011,0.013,".",0.00359425,0.0159,"Likely benign|Uncertain significance|Benign|Uncertain significance","not_specified|Primary_familial_hypertrophic_cardiomyopathy|Dysplasia,_arrhythmogenic_right_ventricular|not_provided","rs116888866","T","D","D","D","D",33,5.8,"CM085968","DM","High","Dysplasia  arrhythmogenic right ventricular:7916G>A"]
["chr6",7585539,7585539,"C","G","chr6_7585539_7585539_C_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.C6247G:p.Q2083E,DSP:NM_004415:exon24:c.C8044G:p.Q2682E",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":2.831e-05,"d":"2.83E-05"},0.0004,".",".",".",".",".","rs772365921","T","B","B","D","D",10.33,5.36,".",".",".","."]
["chr6",7585620,7585620,"G","A","chr6_7585620_7585620_G_A","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.G6328A:p.A2110T,DSP:NM_004415:exon24:c.G8125A:p.A2709T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","B","D","N",24.5,5.62,".",".",".","."]
["chr6",7585794,7585794,"A","G","chr6_7585794_7585794_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A6502G:p.T2168A,DSP:NM_004415:exon24:c.A8299G:p.T2767A",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","P","P","D","N",11.5,4.32,".",".",".","."]
["chr6",7585882,7585882,"A","G","chr6_7585882_7585882_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A6590G:p.D2197G,DSP:NM_004415:exon24:c.A8387G:p.D2796G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",25.8,5.03,".",".",".","."]
["chr6",7585950,7585950,"A","C","chr6_7585950_7585950_A_C","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A6658C:p.M2220L,DSP:NM_004415:exon24:c.A8455C:p.M2819L",{"v":0.004604758250191865,"d":"0.0046048"},12,2606,0.0019,0.0027,0.000308,0.00179712,0.002,"Uncertain significance|Likely benign|Uncertain significance","not_specified|not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy","rs138329459","T","B","B","N","N",21.9,-0.735,"CM132698","DM","Low","Arrhythmogenic right ventricular dysplasia/cardiomyopathy:8455A>C"]
["chr6",7585963,7585986,"CGGGGTCCCGCTCCGGCTCCCGCT","-","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",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",14.69,5.05,".",".",".","."]
["chr6",7586100,7586100,"A","G","chr6_7586100_7586100_A_G","DSP","nonsynonymous SNV","DSP:NM_001008844:exon24:c.A6808G:p.I2270V,DSP:NM_004415:exon24:c.A8605G:p.I2869V",{"v":0.019784172661870502,"d":"0.0197842"},44,2224,0.0023,0.0278,0.000154,0.00459265,0.0208,"Benign|Likely benign","not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy","rs28763971","D","B","B","D","N",22.6,4.87,".",".",".","."]
["chr7",6026539,6026539,"G","T","chr7_6026539_6026539_G_T","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.C1857A:p.D619E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","D",0.526,1.7,".",".",".","."]
["chr7",6026721,6026721,"C","T","chr7_6026721_6026721_C_T","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.G1675A:p.G559R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.893e-05,"d":"1.89E-05"},0,".",".",".",".",".","rs751153838","T","B","B","N","N",5.795,-0.451,".",".",".","."]
["chr7",6026775,6026775,"T","C","chr7_6026775_6026775_T_C","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.A1621G:p.K541E",{"v":0.9424460431654677,"d":"0.9424460"},2096,2224,0.8511,0.9282,0.870385,0.883187,0.878,"Benign|Benign,Benign","Lynch_syndrome|not_provided,not_specified","rs2228006","T","B","B","N","P",0.135,4.66,"BM1497492","DM","Low","Colorectal cancer  non-polyposis:1621G>A"]
["chr7",6026864,6026864,"G","A","chr7_6026864_6026864_G_A","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.C1532T:p.T511M",{"v":0.03372302158273381,"d":"0.0337230"},75,2224,0.0094,0.0261,0.026449,0.0369409,0.0387,"Uncertain significance|Benign|Benign|Benign","not_provided|Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs74902811","T","B","B","N","N",5.442,-3.23,"CM1313317","DM","Low","Colorectal cancer  non-polyposis:1532C>T"]
["chr7",6026888,6026888,"G","T","chr7_6026888_6026888_G_T","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.C1508A:p.S503Y",{"v":0.00038550501156515033,"d":"0.0003855"},1,2594,{"v":9.434e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs777920014","T","D","P","N","N",15.77,3.2,".",".",".","."]
["chr7",6026942,6026942,"G","T","chr7_6026942_6026942_G_T","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.C1454A:p.T485K",{"v":0.33986175115207373,"d":"0.3398618"},885,2604,0.0827,0.3582,0.033523,0.112021,0.3373,"Benign|Benign|Benign|Benign","not_provided|Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs1805323","T","B","B","N","P",0.002,-10.2,".",".",".","."]
["chr7",6026958,6026958,"C","T","chr7_6026958_6026958_C_T","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.G1438A:p.G480R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.766e-05,"d":"3.77E-05"},0.0001,7.7e-05,0.000199681,0.001,"Benign,Uncertain significance","Hereditary_cancer-predisposing_syndrome,Lynch_syndrome","rs146848345","D","D","P","N","N",20.5,-0.585,".",".",".","."]
["chr7",6026988,6026988,"G","A","chr7_6026988_6026988_G_A","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.C1408T:p.P470S",{"v":0.42363775901765155,"d":"0.4236378"},1104,2606,0.3835,0.3826,0.373827,0.358227,0.3601,"Benign|Benign|Benign|Benign|Benign","Lynch_syndrome|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I","rs1805321","T","B","B","N","P",0.089,0.572,".",".",".","."]
["chr7",6027012,6027012,"T","C","chr7_6027012_6027012_T_C","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon11:c.A1384G:p.I462V",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",0.000199681,0.001,"Uncertain significance","Lynch_syndrome","rs200116037","T","B","B","N","N",0.001,-9.01,".",".",".","."]
["chr7",6031630,6031630,"A","G","chr7_6031630_6031630_A_G","PMS2","nonsynonymous SNV","PMS2:NM_000535:exon9:c.T962C:p.V321A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.852e-05,"d":"2.85E-05"},0.0004,".",0.000199681,0.001,"Uncertain significance","Lynch_syndrome","rs186448384","D","D","D","D","D",28.3,5.4,".",".",".","."]
["chr7",150644050,150644050,"G","C","chr7_150644050_150644050_G_C","KCNH2","nonsynonymous SNV","KCNH2:NM_172057:exon10:c.C2225G:p.T742S,KCNH2:NM_000238:exon14:c.C3245G:p.T1082S",{"v":0.0003852080123266564,"d":"0.0003852"},1,2596,".",".",".",".",".",".",".",".","T","B","B","N","D",14.26,4.89,".",".",".","."]
["chr7",150644549,150644549,"G","A","chr7_150644549_150644549_G_A","KCNH2","nonsynonymous SNV","KCNH2:NM_172057:exon9:c.C1999T:p.R667C,KCNH2:NM_000238:exon13:c.C3019T:p.R1007C",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,".",".",".",".",".",".",".",".","D","D","P","N","D",24.3,4.88,".",".",".","."]
["chr7",150644769,150644769,"G","C","chr7_150644769_150644769_G_C","KCNH2","nonsynonymous SNV","KCNH2:NM_172057:exon8:c.C1870G:p.P624A,KCNH2:NM_000238:exon12:c.C2890G:p.P964A",{"v":0.000390625,"d":"0.0003906"},1,2560,".",".",".",".",".",".",".",".","T","B","B","N","D",9.373,4.99,".",".",".","."]
["chr7",150644799,150644799,"G","A","chr7_150644799_150644799_G_A","KCNH2","nonsynonymous SNV","KCNH2:NM_172057:exon8:c.C1840T:p.R614C,KCNH2:NM_000238:exon12:c.C2860T:p.R954C",{"v":0.00045454545454545455,"d":"0.0004545"},1,2200,{"v":6.227e-05,"d":"6.23E-05"},0,".",".",".","Pathogenic|Pathogenic","Sudden_infant_death_syndrome|Cardiac_arrhythmia","rs141401803","D","D","P","N","D",27.3,4.84,"CM070176","DM","High","Sudden infant death syndrome:2860C>T"]
["chr7",150645534,150645534,"T","G","chr7_150645534_150645534_T_G","KCNH2","nonsynonymous SNV","KCNH2:NM_172057:exon7:c.A1670C:p.K557T,KCNH2:NM_000238:exon11:c.A2690C:p.K897T",{"v":0.048524844720496896,"d":"0.0485248"},125,2576,0.1833,0.0428,0.169076,0.136182,0.0536,"Uncertain significance,Uncertain significance|Benign","Cardiac_arrhythmia,not_provided|Atrial_fibrillation","rs1805123","T","P","B","N","P",16.46,-0.036,".",".",".","."]
["chr7",150645543,150645543,"C","G","chr7_150645543_150645543_C_G","KCNH2","nonsynonymous SNV","KCNH2:NM_172057:exon7:c.G1661C:p.R554P,KCNH2:NM_000238:exon11:c.G2681C:p.R894P",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","D","D",29.1,3.87,".",".",".","."]
["chr7",150649599,150649599,"C","T","chr7_150649599_150649599_C_T","KCNH2","nonsynonymous SNV","KCNH2:NM_001204798:exon2:c.G451A:p.V151I,KCNH2:NM_172057:exon2:c.G451A:p.V151I,KCNH2:NM_000238:exon6:c.G1471A:p.V491I,KCNH2:NM_172056:exon6:c.G1471A:p.V491I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0.0009,7.7e-05,".",".","Uncertain significance","Cardiac_arrhythmia","rs374376640","T","P","B","N","N",17.34,4.8,".",".",".","."]
["chr7",150649611,150649611,"C","T","chr7_150649611_150649611_C_T","KCNH2","nonsynonymous SNV","KCNH2:NM_001204798:exon2:c.G439A:p.G147S,KCNH2:NM_172057:exon2:c.G439A:p.G147S,KCNH2:NM_000238:exon6:c.G1459A:p.G487S,KCNH2:NM_172056:exon6:c.G1459A:p.G487S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":5.65e-05,"d":"5.65E-05"},0,".",0.000399361,".","Uncertain significance","Cardiac_arrhythmia","rs562875924","T","P","B","N","D",23.3,4.8,".",".",".","."]
["chr7",150652510,150652510,"G","A","chr7_150652510_150652510_G_A","KCNH2","nonsynonymous SNV","KCNH2:NM_001204798:exon1:c.C82T:p.R28C,KCNH2:NM_172057:exon1:c.C82T:p.R28C",{"v":0.0004508566275924256,"d":"0.0004509"},1,2218,0.0001,0,".",0.000199681,".",".",".","rs62492438","D","P","P",".","D",18.03,5,".",".",".","."]
["chr7",150652549,150652549,"G","A","chr7_150652549_150652549_G_A","KCNH2","nonsynonymous SNV","KCNH2:NM_001204798:exon1:c.C43T:p.R15W,KCNH2:NM_172057:exon1:c.C43T:p.R15W",{"v":0.0004512635379061372,"d":"0.0004513"},1,2216,0.0001,0,".",".",".",".",".","rs778819756","D","D","P",".","D",15.72,4.12,".",".",".","."]
["chr7",150656686,150656686,"C","G","chr7_150656686_150656686_C_G","KCNH2","nonsynonymous SNV","KCNH2:NM_000238:exon3:c.G446C:p.G149A,KCNH2:NM_172056:exon3:c.G446C:p.G149A",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,{"v":2.829e-05,"d":"2.83E-05"},0.0001,".",".",".","Pathogenic","Congenital_long_QT_syndrome","rs199472865","T","B","B","N","N",1.887,3.82,"CM097319","DM","High","Long QT syndrome:446G>C"]
["chr7",151262839,151262839,"G","C","chr7_151262839_151262839_G_C","PRKAG2","nonsynonymous SNV","PRKAG2:NM_024429:exon8:c.C643G:p.R215G,PRKAG2:NM_001304531:exon9:c.C643G:p.R215G,PRKAG2:NM_001304527:exon10:c.C991G:p.R331G,PRKAG2:NM_001040633:exon12:c.C1234G:p.R412G,PRKAG2:NM_016203:exon12:c.C1366G:p.R456G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.415e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs779098740","T","P","P","D","D",23.7,6.06,".",".",".","."]
["chr7",151372558,151372558,"C","T","chr7_151372558_151372558_C_T","PRKAG2","nonsynonymous SNV","PRKAG2:NM_001304527:exon2:c.G260A:p.S87N,PRKAG2:NM_001040633:exon4:c.G500A:p.S167N,PRKAG2:NM_016203:exon4:c.G632A:p.S211N",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,{"v":1.889e-05,"d":"1.89E-05"},0.0003,".",".",".",".",".","rs768909087","T","D","D","N","N",12.88,4.4,".",".",".","."]
["chr7",151372621,151372621,"C","T","chr7_151372621_151372621_C_T","PRKAG2","nonsynonymous SNV","PRKAG2:NM_001304527:exon2:c.G197A:p.R66H,PRKAG2:NM_001040633:exon4:c.G437A:p.R146H,PRKAG2:NM_016203:exon4:c.G569A:p.R190H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance","not_provided","rs551795395","D","D","D","N","D",29.2,4.56,".",".",".","."]
["chr7",151372649,151372649,"T","G","chr7_151372649_151372649_T_G","PRKAG2","nonsynonymous SNV","PRKAG2:NM_001304527:exon2:c.A169C:p.K57Q,PRKAG2:NM_001040633:exon4:c.A409C:p.K137Q,PRKAG2:NM_016203:exon4:c.A541C:p.K181Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0003,".",".",".",".",".","rs765259437","T","B","B","N","D",8.075,4.27,".",".",".","."]
["chr7",151432997,151432997,"T","G","chr7_151432997_151432997_T_G","PRKAG2","nonsynonymous SNV","PRKAG2:NM_001304527:exon1:c.A83C:p.H28P",{"v":0.0004621072088724584,"d":"0.0004621"},1,2164,0.0003,0,".",0.00219649,0.0079,".",".","rs138051386","D","B","B",".","D",22.4,3.98,".",".",".","."]
["chr7",151433013,151433013,"G","A","chr7_151433013_151433013_G_A","PRKAG2","nonsynonymous SNV","PRKAG2:NM_001304527:exon1:c.C67T:p.R23C",{"v":0.0013537906137184115,"d":"0.0013538"},3,2216,{"v":7.697e-05,"d":"7.70E-05"},0,".",".",".",".",".","rs781013116","D","P","B",".","D",22.5,4.18,".",".",".","."]
["chr7",151433027,151433027,"C","T","chr7_151433027_151433027_C_T","PRKAG2","nonsynonymous SNV","PRKAG2:NM_001304527:exon1:c.G53A:p.R18Q",{"v":0.0009000900090009,"d":"0.0009001"},2,2222,".",".",".",0.000199681,0.001,".",".","rs149506922","D","P","B",".","D",22.1,5.12,".",".",".","."]
["chr7",151478406,151478406,"C","T","chr7_151478406_151478406_C_T","PRKAG2","nonsynonymous SNV","PRKAG2:NM_001040633:exon3:c.G166A:p.G56S,PRKAG2:NM_016203:exon3:c.G298A:p.G100S",{"v":0.04793452844894778,"d":"0.0479345"},123,2566,0.0089,0.0361,0.000846,0.0145767,0.0347,"Uncertain significance|Benign|Likely benign","Cardiomyopathy|not_specified|PRKAG2_cardiac_syndrome","rs79474211","T","P","B","N","D",18.55,4.08,"CM136115","DM","Low","PRKAG2 cardiac syndrome:298G>A"]
["chr7",151478480,151478480,"C","G","chr7_151478480_151478480_C_G","PRKAG2","nonsynonymous SNV","PRKAG2:NM_001040633:exon3:c.G92C:p.G31A,PRKAG2:NM_016203:exon3:c.G224C:p.G75A",{"v":0.0013333333333333333,"d":"0.0013333"},1,750,0.0001,0.0015,".",0.000399361,0.002,".",".","rs199963585","T","D","P","N","D",16.96,4.74,".",".",".","."]
["chr7",151483612,151483612,"C","T","chr7_151483612_151483612_C_T","PRKAG2","nonsynonymous SNV","PRKAG2:NM_016203:exon2:c.G130A:p.A44T",{"v":0.0030745580322828594,"d":"0.0030746"},8,2602,0.0003,0.0025,".",0.000998403,0.005,"Uncertain significance|Uncertain significance","not_specified|not_provided","rs144857453","T","D","D","D","D",23.6,5.32,"CM159727","DM","Low","Cardiomyopathy  hypertrophic:130G>A"]
["chr7",151573662,151573662,"G","A","chr7_151573662_151573662_G_A","PRKAG2","nonsynonymous SNV","PRKAG2:NM_016203:exon1:c.C44T:p.S15F",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","P","N","N",23.3,2.22,".",".",".","."]
["chr7",151573697,151573697,"G","C","chr7_151573697_151573697_G_C","PRKAG2","nonsynonymous SNV","PRKAG2:NM_016203:exon1:c.C9G:p.S3R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.472e-06,"d":"9.47E-06"},0.0001,".",".",".",".",".","rs771101951","D","D","D","D","N",27.6,0.608,".",".",".","."]
["chr9",101867538,101867549,"GGCGGCGGCGGC","-","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",{"v":0.0027624309392265192,"d":"0.0027624"},1,362,".",".",".",".",".",".",".",".",".",".",".",".",".",11.13,0.819,".",".",".",1]
["chr9",101908870,101908870,"G","T","chr9_101908870_101908870_G_T","TGFBR1","nonsynonymous SNV","TGFBR1:NM_001130916:exon6:c.G1003T:p.A335S,TGFBR1:NM_001306210:exon7:c.G1246T:p.A416S,TGFBR1:NM_004612:exon7:c.G1234T:p.A412S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","P","D","D",29.3,5.33,".",".",".","."]
["chr9",135772101,135772101,"C","G","chr9_135772101_135772101_C_G","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon22:c.G2863C:p.G955R,TSC1:NM_000368:exon23:c.G3016C:p.G1006R,TSC1:NM_001162426:exon23:c.G3013C:p.G1005R",{"v":0.0013489208633093526,"d":"0.0013489"},3,2224,".",".",".",".",".",".",".",".","D","P","P","N","D",25.7,5.54,".",".",".","."]
["chr9",135772927,135772927,"G","C","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",{"v":0.002270663033605813,"d":"0.0022707"},5,2202,{"v":7.539e-05,"d":"7.54E-05"},0.001,".",0.000399361,0.002,"Uncertain significance|not provided","not_provided|Tuberous_sclerosis_syndrome","rs76801599","T","B","B","N","D",0.575,-2.61,"CM993764","DM","Low","Tuberous sclerosis:2696C>G"]
["chr9",135776993,135776993,"T","G","chr9_135776993_135776993_T_G","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon18:c.A2332C:p.S778R,TSC1:NM_000368:exon19:c.A2485C:p.S829R,TSC1:NM_001162426:exon19:c.A2482C:p.S828R",{"v":0.002686108979278588,"d":"0.0026861"},7,2606,0.0001,0.0014,".",0.000399361,0.002,"not provided,not provided","Tuberous_sclerosis_syndrome,Tuberous_sclerosis_syndrome","rs118203699","T","D","D","D","D",28.6,5.24,".",".",".","."]
["chr9",135779171,135779171,"C","T","chr9_135779171_135779171_C_T","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon16:c.G1922A:p.R641Q,TSC1:NM_000368:exon17:c.G2075A:p.R692Q,TSC1:NM_001162426:exon17:c.G2072A:p.R691Q",{"v":0.004629629629629629,"d":"0.0046296"},12,2592,0.0002,0.0015,".",".",".","Uncertain significance|Uncertain significance|Uncertain significance","not_provided|Hereditary_cancer-predisposing_syndrome|not_specified","rs199755731","T","D","D","D","D",35,5.35,".",".",".","."]
["chr9",135781005,135781005,"G","C","chr9_135781005_135781005_G_C","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon14:c.C1807G:p.Q603E,TSC1:NM_000368:exon15:c.C1960G:p.Q654E,TSC1:NM_001162426:exon15:c.C1957G:p.Q653E",{"v":0.009600614439324117,"d":"0.0096006"},25,2604,0.0009,0.0112,".",0.00199681,0.0099,"not provided,Likely benign|not provided|Benign","Tuberous_sclerosis_syndrome,not_provided|Tuberous_sclerosis_syndrome|not_specified","rs75820036","T","B","B","N","D",10.98,3.05,"CM993762","DM","High","Tuberous sclerosis:1960C>G"]
["chr9",135781244,135781244,"G","A","chr9_135781244_135781244_G_A","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon14:c.C1568T:p.T523I,TSC1:NM_000368:exon15:c.C1721T:p.T574I,TSC1:NM_001162426:exon15:c.C1718T:p.T573I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",0.000199681,0.001,"Likely benign","not_specified","rs548002938","D","B","B","N","N",18.13,5.94,".",".",".","."]
["chr9",135785971,135785971,"G","A","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",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":3.77e-05,"d":"3.77E-05"},0.0005,".",0.000798722,0.004,"not provided|not provided","Tuberous_sclerosis_syndrome|Malignant_tumor_of_urinary_bladder","rs77464996","T","B","B","N","N",7.742,1.41,"CM993761","DM","High","Tuberous sclerosis:1250C>T"]
["chr9",135786904,135786904,"A","G","chr9_135786904_135786904_A_G","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon9:c.T812C:p.M271T,TSC1:NM_000368:exon10:c.T965C:p.M322T,TSC1:NM_001162426:exon10:c.T965C:p.M322T",{"v":0.06883217324052592,"d":"0.0688322"},178,2586,0.1273,0.087,0.165462,0.135184,0.0744,"Benign|not provided|not provided|not provided|not provided|other|Benign","not_provided|Tuberous_sclerosis_syndrome|Malignant_tumor_of_urinary_bladder|Lymphangiomyomatosis|Tuberous_sclerosis_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs1073123","T","B","B","N","P",6.707,2.95,".",".",".","."]
["chr9",135797221,135797221,"A","C","chr9_135797221_135797221_A_C","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon6:c.T495G:p.F165L,TSC1:NM_000368:exon7:c.T648G:p.F216L,TSC1:NM_001162426:exon7:c.T648G:p.F216L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",27.4,3.55,".",".",".","."]
["chr9",135801087,135801087,"C","T","chr9_135801087_135801087_C_T","TSC1","nonsynonymous SNV","TSC1:NM_000368:exon5:c.G250A:p.A84T,TSC1:NM_001162426:exon5:c.G250A:p.A84T",{"v":0.0049884881043745204,"d":"0.0049885"},13,2606,0.0007,0.0046,0.000231,0.00139776,0.0069,"not provided|Benign|Likely benign","Tuberous_sclerosis_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs118203357","T","B","B","N","D",14.12,-0.864,".",".",".","."]
["chr10",43572749,43572749,"-","TGCTGCTGC","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",{"v":0.0016556291390728477,"d":"0.0016556"},3,1812,{"v":9.393e-05,"d":"9.39E-05"},0,".",".",".","Uncertain significance","Multiple_endocrine_neoplasia,_type_2","rs768132465",".",".",".",".",".",11.87,2.67,".",".",".","."]
["chr10",43595976,43595976,"C","T","chr10_43595976_43595976_C_T","RET","nonsynonymous SNV","RET:NM_020630:exon2:c.C143T:p.T48M,RET:NM_020975:exon2:c.C143T:p.T48M",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","T","P","B","N","N",1.173,-3.64,".",".",".","."]
["chr10",43596033,43596033,"G","A","chr10_43596033_43596033_G_A","RET","nonsynonymous SNV","RET:NM_020630:exon2:c.G200A:p.R67H,RET:NM_020975:exon2:c.G200A:p.R67H",{"v":0.010744435917114352,"d":"0.0107444"},28,2606,0.0011,0.0106,".",0.00559105,0.0268,"Uncertain significance|not provided|Benign","not_provided|not_specified|Multiple_endocrine_neoplasia,_type_2","rs192489011","T","B","B","N","N",13.35,-0.21,"CM033450","DM","Low","Autonomic control  congenital failure of:200G>A"]
["chr10",43596069,43596069,"G","A","chr10_43596069_43596069_G_A","RET","nonsynonymous SNV","RET:NM_020630:exon2:c.G236A:p.R79Q,RET:NM_020975:exon2:c.G236A:p.R79Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","N",16.58,3.36,".",".",".","."]
["chr10",43597793,43597793,"G","A","chr10_43597793_43597793_G_A","RET","nonsynonymous SNV","RET:NM_020630:exon3:c.G341A:p.R114H,RET:NM_020975:exon3:c.G341A:p.R114H",{"v":0.006523407521105142,"d":"0.0065234"},17,2606,0.001,0.0117,".",0.00139776,0.006,"Pathogenic|not provided|Uncertain significance|Benign","Congenital_central_hypoventilation|not_specified|Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia,_type_2","rs76397662","T","B","B","N","A",17.05,4.82,"CM023441","DM","High","Autonomic control  congenital failure of:341G>A"]
["chr10",43597885,43597885,"G","A","chr10_43597885_43597885_G_A","RET","nonsynonymous SNV","RET:NM_020630:exon3:c.G433A:p.V145I,RET:NM_020975:exon3:c.G433A:p.V145I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","N",22.5,4.19,".",".",".","."]
["chr10",43597981,43597981,"C","T","chr10_43597981_43597981_C_T","RET","nonsynonymous SNV","RET:NM_020630:exon3:c.C529T:p.R177W,RET:NM_020975:exon3:c.C529T:p.R177W",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs765654609","D","D","D","N","N",26,0.162,".",".",".","."]
["chr10",43598075,43598075,"A","C","chr10_43598075_43598075_A_C","RET","nonsynonymous SNV","RET:NM_020630:exon3:c.A623C:p.E208A,RET:NM_020975:exon3:c.A623C:p.E208A",{"v":0.0003968253968253968,"d":"0.0003968"},1,2520,".",".",".",".",".",".",".",".","T","B","B","N","N",0.003,-7.37,".",".",".","."]
["chr10",43600607,43600607,"C","A","chr10_43600607_43600607_C_A","RET","nonsynonymous SNV","RET:NM_020630:exon4:c.C833A:p.T278N,RET:NM_020975:exon4:c.C833A:p.T278N",{"v":0.028327338129496404,"d":"0.0283273"},63,2224,0.0022,0.0283,".",0.00399361,0.0188,"Uncertain significance|not provided|Likely benign|Benign","not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia,_type_2","rs35118262","T","B","B","N","D",22.9,3.82,"CM066207","DM","High","Hirschsprung disease:833C>A"]
["chr10",43604598,43604598,"G","A","chr10_43604598_43604598_G_A","RET","nonsynonymous SNV","RET:NM_020630:exon6:c.G1183A:p.V395M,RET:NM_020975:exon6:c.G1183A:p.V395M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",26.8,4.22,".",".",".","."]
["chr10",43606856,43606856,"G","A","chr10_43606856_43606856_G_A","RET","nonsynonymous SNV","RET:NM_020630:exon7:c.G1465A:p.D489N,RET:NM_020975:exon7:c.G1465A:p.D489N",{"v":0.044896392939370686,"d":"0.0448964"},117,2606,0.0021,0.0271,0.000154,0.00379393,0.0188,"not provided|Benign|Benign","not_specified|Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia,_type_2","rs9282834","T","B","B","N","N",6.247,2.94,".",".",".","."]
["chr10",43607642,43607642,"A","G","chr10_43607642_43607642_A_G","RET","nonsynonymous SNV","RET:NM_020630:exon8:c.A1618G:p.R540G,RET:NM_020975:exon8:c.A1618G:p.R540G",{"v":0.001939487975174554,"d":"0.0019395"},5,2578,0,0,".",0.000199681,0.001,".",".","rs543376293","T","P","P","D","D",16.04,3.27,".",".",".","."]
["chr10",43610009,43610009,"C","T","chr10_43610009_43610009_C_T","RET","nonsynonymous SNV","RET:NM_020630:exon11:c.C1961T:p.A654V,RET:NM_020975:exon11:c.C1961T:p.A654V",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","N","N",19.79,3.6,".",".",".","."]
["chr10",43610101,43610101,"G","A","chr10_43610101_43610101_G_A","RET","nonsynonymous SNV","RET:NM_020630:exon11:c.G2053A:p.V685I,RET:NM_020975:exon11:c.G2053A:p.V685I",{"v":0.0007704160246533128,"d":"0.0007704"},2,2596,{"v":9.422e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs753686782","T","B","B","N","N",2.45,1.62,".",".",".","."]
["chr10",43610119,43610119,"G","A","chr10_43610119_43610119_G_A","RET","nonsynonymous SNV","RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S",{"v":0.09140201394268009,"d":"0.0914020"},236,2582,0.2059,0.1086,0.157004,0.169129,0.121,"Benign|Benign|Benign|Benign","No_MEN2_disease|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome","rs1799939","T","B","B","N","P",10.4,-1.08,".",".",".","."]
["chr10",43619214,43619214,"C","T","chr10_43619214_43619214_C_T","RET","nonsynonymous SNV","RET:NM_020630:exon17:c.C2897T:p.T966I,RET:NM_020975:exon17:c.C2897T:p.T966I",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs760765930","D","D","D","D","D",26.8,4.4,".",".",".","."]
["chr10",43620335,43620335,"C","T","chr10_43620335_43620335_C_T","RET","nonsynonymous SNV","RET:NM_020630:exon18:c.C2944T:p.R982C,RET:NM_020975:exon18:c.C2944T:p.R982C",{"v":0.007370054305663305,"d":"0.0073701"},19,2578,0.0195,0.0125,0.016223,0.0219649,0.0317,"other|other|Benign|Benign|Benign|Benign","Hirschsprung_disease_1|not_provided|not_specified|Multiple_endocrine_neoplasia,_type_2|Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia","rs17158558","T","D","P","N","D",26.7,-0.299,"CM033451","DM","Low","Autonomic control  congenital failure of:2944C>T"]
["chr10",43620336,43620336,"G","T","chr10_43620336_43620336_G_T","RET","nonsynonymous SNV","RET:NM_020630:exon18:c.G2945T:p.R982L,RET:NM_020975:exon18:c.G2945T:p.R982L",{"v":0.0003912363067292645,"d":"0.0003912"},1,2556,".",".",".",".",".",".",".","rs368550200","T","P","B","N","N",23.2,2.7,".",".",".","."]
["chr10",89623716,89623716,"G","A","chr10_89623716_89623716_G_A","PTEN","nonsynonymous SNV","PTEN:NM_001304717:exon1:c.G10A:p.G4R",{"v":0.3513902205177373,"d":"0.3513902"},733,2086,".",".",".",0.160343,0.3313,".",".","rs12573787",".",".",".",".",".",".",".",".",".",".","."]
["chr10",89623752,89623752,"G","A","chr10_89623752_89623752_G_A","PTEN","nonsynonymous SNV","PTEN:NM_001304717:exon1:c.G46A:p.A16T",{"v":0.0018198362147406734,"d":"0.0018198"},4,2198,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","."]
["chr10",89624071,89624071,"C","G","chr10_89624071_89624071_C_G","PTEN","nonsynonymous SNV","PTEN:NM_001304717:exon2:c.C364G:p.H122D",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,".",".",".",0.000199681,0.001,".",".","rs535471450",".",".",".",".",".",".",".",".",".",".","."]
["chr10",89624218,89624218,"C","G","chr10_89624218_89624218_C_G","PTEN","nonsynonymous SNV","PTEN:NM_001304717:exon2:c.C511G:p.L171V",{"v":0.04412893323100537,"d":"0.0441289"},115,2606,0.0037,0.0449,0.000154,0.0109824,0.0506,"Benign|Benign|Benign","not_specified|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome","rs11202592",".",".",".",".",".",".",".",".",".",".","."]
["chr10",90699324,90699324,"T","G","chr10_90699324_90699324_T_G","ACTA2","nonsynonymous SNV","ACTA2:NM_001141945:exon7:c.A748C:p.I250L,ACTA2:NM_001613:exon7:c.A748C:p.I250L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.423e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs755463167",".","B","P","D","D",23.3,6.08,"CM092906","DM","High","Thoracic aortic disease & strokes:748A>C"]
["chr11",2549186,2549186,"T","C","chr11_2549186_2549186_T_C","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon2:c.T415C:p.F139L,KCNQ1:NM_181798:exon2:c.T34C:p.F12L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",11.43,3.31,".",".",".","."]
["chr11",2591876,2591876,"T","G","chr11_2591876_2591876_T_G","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon3:c.T496G:p.F166V,KCNQ1:NM_181798:exon3:c.T115G:p.F39V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs768419064","T","P","P","D","D",22.9,4.41,".",".",".","."]
["chr11",2610034,2610034,"C","G","chr11_2610034_2610034_C_G","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon10:c.C1343G:p.P448R,KCNQ1:NM_181798:exon10:c.C962G:p.P321R",{"v":0.08247422680412371,"d":"0.0824742"},64,776,0.0081,0.1013,7.7e-05,0.0225639,0.1101,"Uncertain significance,Uncertain significance|Benign|Likely benign,Pathogenic|Uncertain significance","Long_QT_syndrome,not_provided|not_specified|Long_QT_syndrome,Congenital_long_QT_syndrome|Cardiac_arrhythmia","rs12720449","T","B","B","N","N",2.818,4.1,"CM002332","DM","Low","Long QT syndrome:1343C>G"]
["chr11",2790114,2790114,"C","T","chr11_2790114_2790114_C_T","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon12:c.C1555T:p.R519C,KCNQ1:NM_181798:exon12:c.C1174T:p.R392C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.827e-05,"d":"2.83E-05"},0,".",".",".","Pathogenic","Congenital_long_QT_syndrome","rs199472787","D","D","D","D","D",35,4.26,"CM030228","DM","High","Long QT syndrome:1555C>T"]
["chr11",2790115,2790115,"G","A","chr11_2790115_2790115_G_A","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon12:c.G1556A:p.R519H,KCNQ1:NM_181798:exon12:c.G1175A:p.R392H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.827e-05,"d":"2.83E-05"},0.0001,".",".",".","Benign","not_provided","rs199472788","T","D","D","D","D",28.9,4.26,"CM157148","DM","High","Long QT syndrome:1556G>A"]
["chr11",2869063,2869063,"G","A","chr11_2869063_2869063_G_A","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon16:c.G1861A:p.G621S,KCNQ1:NM_181798:exon16:c.G1480A:p.G494S",{"v":0.0009009009009009009,"d":"0.0009009"},2,2220,{"v":4.737e-05,"d":"4.74E-05"},0,".",".",".","Benign","not_provided","rs199472820","T","B","B","N","N",0.166,-3.38,"CM1413447","DM","Low","Sudden cardiac death:1861G>A"]
["chr11",2869073,2869090,"CCCCCGGCAGCGGCGGCC","-","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",{"v":0.00055005500550055,"d":"0.0005501"},1,1818,".",".",".",".",".","not provided","Long_QT_syndrome,_LQT1_subtype","rs397508102",".",".",".",".",".",8.988,3.13,".",".",".",1]
["chr11",2869087,2869087,"G","A","chr11_2869087_2869087_G_A","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon16:c.G1885A:p.G629S,KCNQ1:NM_181798:exon16:c.G1504A:p.G502S",{"v":0.00045004500450045,"d":"0.0004500"},1,2222,0.0002,0,".",".",".",".",".","rs775608046","T","P","B",".","N",0.013,-1.13,".",".",".","."]
["chr11",2869129,2869129,"G","A","chr11_2869129_2869129_G_A","KCNQ1","nonsynonymous SNV","KCNQ1:NM_000218:exon16:c.G1927A:p.G643S,KCNQ1:NM_181798:exon16:c.G1546A:p.G516S",{"v":0.05260791366906475,"d":"0.0526079"},117,2224,0.0182,0.1263,0.006891,0.0165735,0.0397,"Benign|Benign|Benign","Cardiac_arrhythmia|not_provided|not_specified","rs1800172","T","B","B","N","N",0.037,-2.86,".",".",".","."]
["chr11",32449541,32449541,"G","A","chr11_32449541_32449541_G_A","WT1","nonsynonymous SNV","WT1:NM_000378:exon3:c.C833T:p.T278I,WT1:NM_001198551:exon3:c.C197T:p.T66I,WT1:NM_001198552:exon3:c.C197T:p.T66I,WT1:NM_024424:exon3:c.C833T:p.T278I,WT1:NM_024426:exon3:c.C833T:p.T278I",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":1.034e-05,"d":"1.03E-05"},0,".",".",".",".",".","rs776258782","D","D","P","U","D",32,5.11,".",".",".","."]
["chr11",32450067,32450067,"G","T","chr11_32450067_32450067_G_T","WT1","nonsynonymous SNV","WT1:NM_000378:exon2:c.C745A:p.P249T,WT1:NM_001198551:exon2:c.C109A:p.P37T,WT1:NM_001198552:exon2:c.C109A:p.P37T,WT1:NM_024424:exon2:c.C745A:p.P249T,WT1:NM_024426:exon2:c.C745A:p.P249T",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,{"v":2.836e-05,"d":"2.84E-05"},0.0004,".",".",".","not provided","not_specified","rs2234584","T","B","B","U","D",18.37,5.62,".",".",".","."]
["chr11",32456594,32456594,"C","A","chr11_32456594_32456594_C_A","WT1","nonsynonymous SNV","WT1:NM_000378:exon1:c.G298T:p.A100S,WT1:NM_024424:exon1:c.G298T:p.A100S,WT1:NM_024426:exon1:c.G298T:p.A100S",{"v":0.00047664442326024784,"d":"0.0004766"},1,2098,".",".",".",".",".",".",".",".","T","B","B","U",".",9.983,2,".",".",".","."]
["chr11",32456873,32456873,"T","G","chr11_32456873_32456873_T_G","WT1","nonsynonymous SNV","WT1:NM_000378:exon1:c.A19C:p.T7P,WT1:NM_024424:exon1:c.A19C:p.T7P,WT1:NM_024426:exon1:c.A19C:p.T7P",{"v":0.0025380710659898475,"d":"0.0025381"},1,394,0,0,".",".",".",".",".","rs764111950","D","B","B",".",".",23.1,2.45,".",".",".","."]
["chr11",47353687,47353687,"G","C","chr11_47353687_47353687_G_C","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon32:c.C3750G:p.I1250M",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":1.899e-05,"d":"1.90E-05"},0.0003,".",".",".",".",".","rs770102135","T","B","B",".","N",13.51,1.93,".",".",".","."]
["chr11",47353761,47353761,"G","A","chr11_47353761_47353761_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon32:c.C3676T:p.R1226C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.632e-05,"d":"6.63E-05"},0.0001,".",".",".","Uncertain significance|Uncertain significance","not_specified|Hypertrophic_cardiomyopathy","rs397516033","D","D","D",".","D",34,5.46,".",".",".","."]
["chr11",47354175,47354175,"C","T","chr11_47354175_47354175_C_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon31:c.G3569A:p.R1190H",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,{"v":5.744e-05,"d":"5.74E-05"},0.0001,8.2e-05,0.000199681,0.001,"Uncertain significance|Uncertain significance","not_specified|Cardiomyopathy","rs117354682","D","D","D",".","D",34,5.34,".",".",".","."]
["chr11",47354443,47354443,"G","A","chr11_47354443_47354443_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon30:c.C3412T:p.R1138C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":4.31e-05,"d":"4.31E-05"},0.0002,0.000163,".",".","Uncertain significance|Uncertain significance","Primary_familial_hypertrophic_cardiomyopathy|Cardiomyopathy","rs377171707","D","D","D",".","D",35,5.38,"CM132315","DM","High","Cardiomyopathy  hypertrophic:3412C>T"]
["chr11",47354759,47354759,"C","T","chr11_47354759_47354759_C_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon29:c.G3316A:p.D1106N",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":3.589e-05,"d":"3.59E-05"},0.0002,".",".",".",".",".","rs377106864","D","D","D",".","D",34,5.36,".",".",".","."]
["chr11",47354846,47354846,"C","T","chr11_47354846_47354846_C_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon29:c.G3229A:p.A1077T",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".","Likely benign|Uncertain significance","not_specified|not_provided","rs397516009","T","B","B",".","N",17.85,-1.93,".",".",".","."]
["chr11",47355161,47355161,"G","A","chr11_47355161_47355161_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon28:c.C3137T:p.T1046M",{"v":0.00422102839600921,"d":"0.0042210"},11,2606,{"v":5.687e-05,"d":"5.69E-05"},0.0005,7.7e-05,0.000399361,0.002,"Likely pathogenic|Uncertain significance|Likely benign","Primary_familial_hypertrophic_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy","rs371061770","T","B","B",".","N",18.56,4.28,"CM073210","DM","High","Cardiomyopathy  hypertrophic:3137C>T"]
["chr11",47355205,47355205,"G","T","chr11_47355205_47355205_G_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon28:c.C3093A:p.F1031L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","P",".","D",28,3.02,".",".",".","."]
["chr11",47355226,47355226,"G","T","chr11_47355226_47355226_G_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon28:c.C3072A:p.S1024R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.868e-05,"d":"2.87E-05"},0.0004,".",".",".",".",".","rs767605155","D","D","D",".","D",28.3,4.89,".",".",".","."]
["chr11",47355294,47355294,"G","A","chr11_47355294_47355294_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon28:c.C3004T:p.R1002W",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,0.0007,0.0005,0.001621,0.00299521,0.001,"Likely benign|Benign|Benign","not_specified|Cardiomyopathy|Hypertrophic_cardiomyopathy","rs3729799","D","D","D",".","D",34,4.08,"CM137783","DM","Low","Cardiomyopathy  hypertrophic:3004C>T"]
["chr11",47355475,47355475,"G","C","chr11_47355475_47355475_G_C","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon27:c.C2992G:p.Q998E",{"v":0.020737327188940093,"d":"0.0207373"},54,2604,0.0061,0.0379,".",0.0061901,0.0099,"Pathogenic,Benign|other|Benign|Benign","Cardiomyopathy,Primary_dilated_cardiomyopathy|not_specified|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy","rs11570112","D","D","D",".","D",25.3,4.1,"CM043548","DM","High","Cardiomyopathy  hypertrophic:2992C>G"]
["chr11",47356737,47356737,"G","C","chr11_47356737_47356737_G_C","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon26:c.C2761G:p.Q921E",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,0.0002,0.0018,".",0.00119808,0.006,"Uncertain significance","Cardiomyopathy","rs367729718","T","B","B",".","N",5.022,4.49,"CM088318","DM","High","Cardiomyopathy  hypertrophic:2761C>G"]
["chr11",47359040,47359040,"C","A","chr11_47359040_47359040_C_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon24:c.G2504T:p.R835L",{"v":0.001152073732718894,"d":"0.0011521"},3,2604,{"v":7.579e-05,"d":"7.58E-05"},0.001,".",0.000399361,0.002,".",".","rs527305885","D","D","D",".","D",35,4.6,"CM106116","DM","High","Cardiomyopathy  hypertrophic:2504G>T"]
["chr11",47359101,47359103,"TCT","-","chr11_47359101_47359103_TCT_-","MYBPC3","nonframeshift deletion","MYBPC3:NM_000256:exon24:c.2441_2443del:p.814_815del",{"v":0.007978723404255319,"d":"0.0079787"},3,376,0.0004,0.0001,".",".",".","Uncertain significance|Uncertain significance|Likely pathogenic|Uncertain significance","not_specified|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|Hypertrophic_cardiomyopathy","rs727504288",".",".",".",".",".",22.1,4.6,"CD021840","DM","High","Cardiomyopathy  hypertrophic:2441_2443delAGA"]
["chr11",47359286,47359286,"C","G","chr11_47359286_47359286_C_G","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon23:c.G2368C:p.V790L",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B",".","D",22.9,4.28,".",".",".","."]
["chr11",47360114,47360114,"G","T","chr11_47360114_47360114_G_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon22:c.C2265A:p.N755K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D",".","D",26.8,2.56,"CM981327","DM","High","Cardiomyopathy  hypertrophic:2265C>A"]
["chr11",47360182,47360182,"G","A","chr11_47360182_47360182_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon22:c.C2197T:p.R733C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.846e-05,"d":"6.85E-05"},0.0001,".",0.000599042,".","Uncertain significance|Uncertain significance,Uncertain significance","not_specified|Cardiomyopathy,Cardiomyopathy","rs397515956","T","B","B",".","D",30,5.4,"CM043541","DM","High","Cardiomyopathy  hypertrophic:2197C>T"]
["chr11",47361266,47361266,"C","T","chr11_47361266_47361266_C_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon20:c.G2003A:p.R668H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0003,0,".",".",".","other|Uncertain significance","not_specified|Familial_hypertrophic_cardiomyopathy_1","rs727503191","D","D","D",".","D",35,4.9,"CM034252","DM","High","Cardiomyopathy  hypertrophic:2003G>A"]
["chr11",47363612,47363612,"G","A","chr11_47363612_47363612_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon17:c.C1720T:p.R574W",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.244e-05,"d":"6.24E-05"},0,".",".",".","Likely pathogenic,Benign","Cardiomyopathy,Cardiomyopathy","rs61897383","D","D","P",".","D",25,1.93,".",".",".","."]
["chr11",47364234,47364234,"C","T","chr11_47364234_47364234_C_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon16:c.G1519A:p.G507R",{"v":0.005372217958557176,"d":"0.0053722"},14,2606,0.0007,0.0019,0.00132,0.00259585,0.004,"other|Benign|Uncertain significance|Likely benign","not_specified|Cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy","rs35736435","D","D","D",".","D",34,4.63,"CM032598","DM","Low","Cardiomyopathy  hypertrophic:1519G>A"]
["chr11",47364409,47364409,"C","-","chr11_47364409_47364409_C_-","MYBPC3","frameshift deletion","MYBPC3:NM_000256:exon15:c.1429delG:p.V477fs",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",33,4.55,".",".",".","."]
["chr11",47367848,47367848,"C","T","chr11_47367848_47367848_C_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon12:c.G1000A:p.E334K",{"v":0.004604758250191865,"d":"0.0046048"},12,2606,0.0004,0.005,".",0.000998403,0.004,"other,Uncertain significance|Likely pathogenic","Familial_hypertrophic_cardiomyopathy_4,not_specified|Familial_hypertrophic_cardiomyopathy_4","rs573916965","D","P","B",".","D",24.9,4.7,"CM073211","DM","High","Cardiomyopathy  hypertrophic:1000G>A"]
["chr11",47369212,47369212,"G","A","chr11_47369212_47369212_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon8:c.C841T:p.R281W",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,0,0,8.2e-05,".",".","Uncertain significance","Cardiomyopathy","rs371711564","D","D","B",".","N",25.2,4.53,".",".",".","."]
["chr11",47369442,47369442,"C","T","chr11_47369442_47369442_C_T","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon7:c.G787A:p.G263R",{"v":0.0007710100231303007,"d":"0.0007710"},2,2594,0.0003,0.0025,8.4e-05,".",".","Uncertain significance","Primary_familial_hypertrophic_cardiomyopathy","rs373730381","T","P","B",".","N",23.5,4.64,"CM054781","DM","High","Cardiomyopathy  hypertrophic:787G>A"]
["chr11",47370041,47370041,"T","C","chr11_47370041_47370041_T_C","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon6:c.A706G:p.S236G",{"v":0.014976958525345621,"d":"0.0149770"},39,2604,0.1066,0.0307,0.10344,0.0670927,0.0268,"Benign|Benign|Benign","not_specified|Cardiomyopathy|Hypertrophic_cardiomyopathy","rs3729989","T","B","B",".","P",5.127,5.12,"CM043536","DM","Low","Cardiomyopathy  hypertrophic:706A>G"]
["chr11",47370063,47370063,"A","C","chr11_47370063_47370063_A_C","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon6:c.T684G:p.D228E",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,{"v":8.616e-05,"d":"8.62E-05"},0.0011,".",".",".",".",".","rs532498780","T","B","B",".","N",0.008,-3.76,".",".",".","."]
["chr11",47371326,47371326,"T","A","chr11_47371326_47371326_T_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon5:c.A653T:p.K218M",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".",".",".",".","D","D","D",".","D",25.5,4.8,".",".",".","."]
["chr11",47371336,47371336,"G","A","chr11_47371336_47371336_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon5:c.C643T:p.R215C",{"v":0.0011547344110854503,"d":"0.0011547"},3,2598,0.0002,0.0015,".",0.000199681,0.001,"Uncertain significance|Likely pathogenic","not_specified|Cardiomyopathy","rs397516063","D","D","D",".","D",26.7,2.83,"CM133948","DM","High","Cardiomyopathy  hypertrophic:643C>T"]
["chr11",47372799,47372799,"T","G","chr11_47372799_47372799_T_G","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon2:c.A283C:p.I95L",{"v":0.001153846153846154,"d":"0.0011538"},3,2600,0,0,".",0.000199681,0.001,".",".","rs549758428","T","B","B",".","N",8.668,1.77,".",".",".","."]
["chr11",47372888,47372888,"G","A","chr11_47372888_47372888_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon2:c.C194T:p.T65M",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":5.145e-05,"d":"5.15E-05"},0,".",".",".",".",".","rs753300898","D","D","D",".","D",21.7,3.35,".",".",".","."]
["chr11",47373033,47373033,"G","A","chr11_47373033_47373033_G_A","MYBPC3","nonsynonymous SNV","MYBPC3:NM_000256:exon2:c.C49T:p.R17W",{"v":0.0004616805170821791,"d":"0.0004617"},1,2166,{"v":2.746e-05,"d":"2.75E-05"},0.0002,".",".",".",".",".","rs747857800","D","D","D",".","N",27.6,-0.851,".",".",".","."]
["chr11",61205535,61205535,"G","A","chr11_61205535_61205535_G_A","SDHAF2","nonsynonymous SNV","SDHAF2:NM_017841:exon3:c.G320A:p.R107H",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,0.0002,0.002,".",0.000199681,0.001,".",".","rs535627239","D","D","D","D","D",35,6.17,".",".",".","."]
["chr11",61205545,61205545,"C","A","chr11_61205545_61205545_C_A","SDHAF2","nonsynonymous SNV","SDHAF2:NM_017841:exon3:c.C330A:p.N110K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",26.9,-3.76,".",".",".","."]
["chr11",64571984,64571984,"G","A","chr11_64571984_64571984_G_A","MEN1","nonsynonymous SNV","MEN1:NM_000244:exon10:c.C1670T:p.T557I,MEN1:NM_130799:exon10:c.C1655T:p.T552I,MEN1:NM_130800:exon10:c.C1670T:p.T557I,MEN1:NM_130801:exon10:c.C1670T:p.T557I,MEN1:NM_130802:exon10:c.C1670T:p.T557I,MEN1:NM_130803:exon10:c.C1670T:p.T557I,MEN1:NM_130804:exon11:c.C1670T:p.T557I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","D",23,3.4,".",".",".","."]
["chr11",64572018,64572018,"T","C","chr11_64572018_64572018_T_C","MEN1","nonsynonymous SNV","MEN1:NM_000244:exon10:c.A1636G:p.T546A,MEN1:NM_130799:exon10:c.A1621G:p.T541A,MEN1:NM_130800:exon10:c.A1636G:p.T546A,MEN1:NM_130801:exon10:c.A1636G:p.T546A,MEN1:NM_130802:exon10:c.A1636G:p.T546A,MEN1:NM_130803:exon10:c.A1636G:p.T546A,MEN1:NM_130804:exon11:c.A1636G:p.T546A",{"v":0.7311538461538462,"d":"0.7311538"},1901,2600,0.9355,0.6999,0.908433,0.834465,0.6964,"Benign|Benign|Benign,Benign","not_provided|not_specified|Multiple_endocrine_neoplasia,_type_1,not_specified","rs2959656","T","B","B","N","P",0.03,3.35,".",".",".","."]
["chr11",64572084,64572084,"G","C","chr11_64572084_64572084_G_C","MEN1","nonsynonymous SNV","MEN1:NM_000244:exon10:c.C1570G:p.P524A,MEN1:NM_130799:exon10:c.C1555G:p.P519A,MEN1:NM_130800:exon10:c.C1570G:p.P524A,MEN1:NM_130801:exon10:c.C1570G:p.P524A,MEN1:NM_130802:exon10:c.C1570G:p.P524A,MEN1:NM_130803:exon10:c.C1570G:p.P524A,MEN1:NM_130804:exon11:c.C1570G:p.P524A",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","B","B","N","N",0.001,-0.142,".",".",".","."]
["chr11",64572131,64572131,"C","T","chr11_64572131_64572131_C_T","MEN1","nonsynonymous SNV","MEN1:NM_000244:exon10:c.G1523A:p.G508D,MEN1:NM_130799:exon10:c.G1508A:p.G503D,MEN1:NM_130800:exon10:c.G1523A:p.G508D,MEN1:NM_130801:exon10:c.G1523A:p.G508D,MEN1:NM_130802:exon10:c.G1523A:p.G508D,MEN1:NM_130803:exon10:c.G1523A:p.G508D,MEN1:NM_130804:exon11:c.G1523A:p.G508D",{"v":0.005405405405405406,"d":"0.0054054"},12,2220,0.0006,0.0078,".",0.000399361,0.002,"Uncertain significance","Multiple_endocrine_neoplasia,_type_1","rs375804228","T","B","B","N","N",12.01,-0.291,"BM1426781","DM","High","Multiple endocrine neoplasia 1:1508G>A"]
["chr11",64572161,64572161,"G","A","chr11_64572161_64572161_G_A","MEN1","nonsynonymous SNV","MEN1:NM_000244:exon10:c.C1493T:p.P498L,MEN1:NM_130799:exon10:c.C1478T:p.P493L,MEN1:NM_130800:exon10:c.C1493T:p.P498L,MEN1:NM_130801:exon10:c.C1493T:p.P498L,MEN1:NM_130802:exon10:c.C1493T:p.P498L,MEN1:NM_130803:exon10:c.C1493T:p.P498L,MEN1:NM_130804:exon11:c.C1493T:p.P498L",{"v":0.00045330915684496827,"d":"0.0004533"},1,2206,{"v":2.522e-05,"d":"2.52E-05"},0.0002,".",".",".",".",".","rs766604600","T","P","B","D","D",23.9,4.54,".",".",".","."]
["chr11",64575505,64575505,"C","T","chr11_64575505_64575505_C_T","MEN1","nonsynonymous SNV","MEN1:NM_000244:exon3:c.G527A:p.R176Q,MEN1:NM_130799:exon3:c.G512A:p.R171Q,MEN1:NM_130800:exon3:c.G527A:p.R176Q,MEN1:NM_130801:exon3:c.G527A:p.R176Q,MEN1:NM_130802:exon3:c.G527A:p.R176Q,MEN1:NM_130803:exon3:c.G527A:p.R176Q,MEN1:NM_130804:exon4:c.G527A:p.R176Q",{"v":0.004243827160493827,"d":"0.0042438"},11,2592,0.0111,0.0058,0.015389,0.0061901,0.005,"Benign|Benign|Benign|Benign","not_provided|not_specified|Multiple_endocrine_neoplasia,_type_1|Multiple_endocrine_neoplasia","rs607969","T","D","P","N","N",23.7,4.8,"CM083722","DM","Low","Multiple endocrine neoplasia 1:512G>A"]
["chr11",111959690,111959690,"C","A","chr11_111959690_111959690_C_A","SDHD","nonsynonymous SNV","SDHD:NM_001276504:exon2:c.C152A:p.A51E,SDHD:NM_001276506:exon3:c.C269A:p.A90E,SDHD:NM_003002:exon3:c.C269A:p.A90E",{"v":0.0009090909090909091,"d":"0.0009091"},2,2200,{"v":5.65e-05,"d":"5.65E-05"},0.0008,".",".",".",".",".","rs200255724","D","P","P","N","D",27.5,1.52,".",".",".","."]
["chr12",32949083,32949083,"C","T","chr12_32949083_32949083_C_T","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon11:c.G2317A:p.G773R,PKP2:NM_004572:exon12:c.G2449A:p.G817R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.883e-05,"d":"1.88E-05"},0,".",".",".",".",".","rs766775778","D","B","B","D","D",25.9,5.06,".",".",".","."]
["chr12",32949229,32949229,"T","G","chr12_32949229_32949229_T_G","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon11:c.A2171C:p.K724T,PKP2:NM_004572:exon12:c.A2303C:p.K768T",{"v":0.0049504950495049506,"d":"0.0049505"},2,404,{"v":9.614e-05,"d":"9.61E-05"},0.0013,".",0.000599042,0.003,"Uncertain significance","not_provided","rs201487421","T","B","B","D","D",23.7,0.102,".",".",".","."]
["chr12",32955432,32955432,"C","T","chr12_32955432_32955432_C_T","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon10:c.G2072A:p.R691Q,PKP2:NM_004572:exon11:c.G2204A:p.R735Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":4.708e-05,"d":"4.71E-05"},0.0003,".",0.000199681,".",".",".","rs547215531","T","D","D","D","D",34,4.75,".",".",".","."]
["chr12",32955486,32955486,"G","A","chr12_32955486_32955486_G_A","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon10:c.C2018T:p.P673L,PKP2:NM_004572:exon11:c.C2150T:p.P717L",{"v":0.005755947812739831,"d":"0.0057559"},15,2606,0.0001,0.0017,".",0.000599042,0.003,".",".","rs144018320","D","D","D","N","D",34,4.75,"CM132689","DM","Low","Arrhythmogenic right ventricular dysplasia/cardiomyopathy:2150C>T"]
["chr12",32974414,32974414,"A","G","chr12_32974414_32974414_A_G","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon9:c.T1889C:p.V630A,PKP2:NM_004572:exon10:c.T2021C:p.V674A",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":7.535e-05,"d":"7.54E-05"},0.001,".",".",".",".",".","rs751965920","T","P","P","N","D",23.9,4.88,".",".",".","."]
["chr12",32975562,32975562,"T","G","chr12_32975562_32975562_T_G","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon8:c.A1678C:p.T560P,PKP2:NM_004572:exon9:c.A1810C:p.T604P",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",26.4,5.05,".",".",".","."]
["chr12",32977074,32977074,"C","G","chr12_32977074_32977074_C_G","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon7:c.G1579C:p.D527H,PKP2:NM_004572:exon8:c.G1711C:p.D571H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","P","N","D",29.8,5.62,".",".",".","."]
["chr12",32994066,32994104,"CGTCAGCGTAAGCAATGCTTCTGTTATCATGAGATTCTT","-","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",{"v":0.0005561735261401557,"d":"0.0005562"},1,1798,".",".",".",".",".",".",".",".",".",".",".",".",".",19.08,5.15,".",".",".","."]
["chr12",32994073,32994073,"G","A","chr12_32994073_32994073_G_A","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon6:c.C1445T:p.T482M,PKP2:NM_004572:exon7:c.C1577T:p.T526M",{"v":0.00038580246913580245,"d":"0.0003858"},1,2592,0.0022,0,0.003691,0.00379393,".","other|Likely benign|Benign","not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9","rs146882581","T","B","B","N","N",10.28,2.01,"CM113820","DM","High","Arrhythmogenic right ventricular dysplasia/cardiomyopathy:1577C>T"]
["chr12",32994092,32994092,"T","C","chr12_32994092_32994092_T_C","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon6:c.A1426G:p.I476V,PKP2:NM_004572:exon7:c.A1558G:p.I520V",{"v":0.0011529592621060721,"d":"0.0011530"},3,2602,{"v":2.827e-05,"d":"2.83E-05"},0.0003,".",".",".","Uncertain significance","not_provided","rs763749576","T","B","B","D","N",11.31,4,".",".",".","."]
["chr12",33021869,33021869,"G","A","chr12_33021869_33021869_G_A","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon4:c.C1162T:p.R388W,PKP2:NM_004572:exon4:c.C1162T:p.R388W",{"v":0.0003875968992248062,"d":"0.0003876"},1,2580,{"v":9.416e-06,"d":"9.42E-06"},0,".",".",".","Pathogenic|Pathogenic","not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy","rs766209297","D","D","D","N","N",32,4.02,"CM097906","DM","High","Arrhythmogenic right ventricular cardiomyopathy:1162C>T"]
["chr12",33021934,33021934,"A","G","chr12_33021934_33021934_A_G","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P",{"v":0.020337682271680736,"d":"0.0203377"},53,2606,0.1761,0.0302,0.220052,0.151358,0.0308,"Benign|Benign","not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy","rs1046116","T","B","B","N","P",3.732,4.19,"CM150226","DM","Low","Arrhythmogenic right ventricular cardiomyopathy:1097T>C"]
["chr12",33030861,33030861,"T","G","chr12_33030861_33030861_T_G","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon3:c.A953C:p.H318P,PKP2:NM_004572:exon3:c.A953C:p.H318P",{"v":0.004224270353302612,"d":"0.0042243"},11,2604,0.0001,0.0014,".",0.000599042,0.003,".",".","rs181098323","T","B","B",".","N",0.281,2.62,"CM132690","DM","Low","Arrhythmogenic right ventricular dysplasia/cardiomyopathy:953A>C"]
["chr12",33031089,33031089,"G","A","chr12_33031089_33031089_G_A","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon3:c.C725T:p.T242M,PKP2:NM_004572:exon3:c.C725T:p.T242M",{"v":0.0038461538461538464,"d":"0.0038462"},7,1820,{"v":9.441e-05,"d":"9.44E-05"},0.001,".",0.000199681,0.001,".",".","rs201580443","T","B","B","N","N",17.85,4.92,".",".",".","."]
["chr12",33031902,33031902,"A","C","chr12_33031902_33031902_A_C","PKP2","nonsynonymous SNV","PKP2:NM_001005242:exon2:c.T288G:p.D96E,PKP2:NM_004572:exon2:c.T288G:p.D96E",{"v":0.0013623978201634877,"d":"0.0013624"},3,2202,{"v":3.767e-05,"d":"3.77E-05"},0.0005,".",".",".",".",".","rs762825735","T","P","B","N","N",13.52,-3.46,".",".",".","."]
["chr13",32890650,32890650,"G","A","chr13_32890650_32890650_G_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon2:c.G53A:p.R18H",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":4.825e-05,"d":"4.83E-05"},0.0005,".",0.000399361,0.002,"not provided|Benign|Benign","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs80358762","T","D","B","N","N",24.2,3.54,"CM065025","DM","Low","Breast cancer:53G>A"]
["chr13",32893249,32893249,"C","T","chr13_32893249_32893249_C_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon3:c.C103T:p.L35F",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","D","D","D",29.5,5.69,".",".",".","."]
["chr13",32893306,32893308,"AAC","-","chr13_32893306_32893308_AAC_-","BRCA2","nonframeshift deletion","BRCA2:NM_000059:exon3:c.160_162del:p.54_54del",{"v":0.0024752475247524753,"d":"0.0024752"},1,404,{"v":2.83e-05,"d":"2.83E-05"},0,".",".",".","other|Likely benign|Likely benign|Likely benign","Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs11571587",".",".",".",".",".",6.666,4.36,".",".",".","."]
["chr13",32893412,32893412,"C","T","chr13_32893412_32893412_C_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon3:c.C266T:p.P89L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.891e-05,"d":"1.89E-05"},0,".",".",".",".",".","rs748609599","D","D","B","N","N",23.8,2.72,".",".",".","."]
["chr13",32900264,32900264,"T","C","chr13_32900264_32900264_T_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon5:c.T452C:p.V151A",{"v":0.0014691478942213516,"d":"0.0014691"},3,2042,{"v":9.447e-06,"d":"9.45E-06"},0.0001,".",".",".","Uncertain significance","Familial_cancer_of_breast","rs730881503","T","P","B","N","N",0.03,-5.78,".",".",".","."]
["chr13",32900649,32900649,"-","AAA","chr13_32900649_32900649_-_AAA","BRCA2","nonframeshift insertion","BRCA2:NM_000059:exon7:c.530_531insAAA:p.P177delinsPK",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",14.03,3.01,".",".",".","."]
["chr13",32900742,32900742,"T","G","chr13_32900742_32900742_T_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon7:c.T623G:p.V208G",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":5.657e-05,"d":"5.66E-05"},0.0008,".",".",".","not provided|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs80358865","D","D","D","D","D",27.5,5.65,".",".",".","."]
["chr13",32906480,32906480,"A","C","chr13_32906480_32906480_A_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A865C:p.N289H",{"v":0.12365591397849462,"d":"0.1236559"},322,2604,0.0536,0.1013,0.031168,0.0736821,0.0962,"Benign|Benign|Benign|Benign|Benign,Uncertain significance|Uncertain significance|Likely benign","not_provided|Breast-ovarian_cancer,_familial_2|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast,Breast-ovarian_cancer,_familial_2|Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome","rs766173","D","D","P","N","P",0.118,1.73,".",".",".","."]
["chr13",32906558,32906558,"T","A","chr13_32906558_32906558_T_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.T943A:p.C315S",{"v":0.0023023791250959325,"d":"0.0023024"},6,2606,0.0004,0.0048,".",0.00159744,0.0079,"Benign|other|Uncertain significance|Likely benign","Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast","rs79483201","T","B","B","N","N",0.098,1.78,"CM024726","DM","Low","Oesophageal carcinoma:943T>A"]
["chr13",32906579,32906579,"A","C","chr13_32906579_32906579_A_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A964C:p.K322Q",{"v":0.001152073732718894,"d":"0.0011521"},3,2604,{"v":4.758e-05,"d":"4.76E-05"},0.0006,".",0.000599042,0.003,"other|Uncertain significance|Likely benign|Likely benign|Likely benign","Breast-ovarian_cancer,_familial_2|not_provided|Hereditary_breast_and_ovarian_cancer_syndrome|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome","rs11571640","D","D","B","N","N",16.89,2.47,"CM962766","DM","High","Liver cancer:964A>C"]
["chr13",32906631,32906631,"A","G","chr13_32906631_32906631_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A1016G:p.D339G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.608,0.06,".",".",".","."]
["chr13",32906673,32906673,"C","T","chr13_32906673_32906673_C_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.C1058T:p.S353L",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":9.498e-06,"d":"9.50E-06"},0.0001,".",".",".",".",".","rs769368098","T","B","B","N","N",2.96,0.985,".",".",".","."]
["chr13",32906729,32906729,"A","C","chr13_32906729_32906729_A_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A1114C:p.N372H",{"v":0.2747505755947813,"d":"0.2747506"},716,2606,0.2796,0.2704,0.233209,0.249401,0.2847,"not provided,Benign|Benign|Benign|Benign|Uncertain significance","Breast-ovarian_cancer,_familial_2,Breast-ovarian_cancer,_familial_2|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Ductal_breast_carcinoma","rs144848","T",".",".","N","P",0.009,0.396,".",".",".","."]
["chr13",32907006,32907006,"T","C","chr13_32907006_32907006_T_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.T1391C:p.V464A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.446,2.85,".",".",".","."]
["chr13",32907183,32907183,"A","G","chr13_32907183_32907183_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A1568G:p.H523R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0.0017,".",".",".","Likely benign|Likely benign|Likely benign,not provided|Uncertain significance","Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2","rs80358443","D","B","B","N","N",0.002,-1.66,"CM1111062","DM","Low","Oesophageal carcinoma:1568A>G"]
["chr13",32907359,32907359,"A","C","chr13_32907359_32907359_A_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.A1744C:p.T582P",{"v":0.007674597083653108,"d":"0.0076746"},20,2606,0.0002,0.0032,".",0.000399361,0.002,"Benign|not provided|Benign,Uncertain significance|Uncertain significance|Benign","Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs80358457","D","D","P","N","N",21.8,2.84,"CM033756","DM","High","Breast cancer:1744A>C"]
["chr13",32907497,32907497,"C","T","chr13_32907497_32907497_C_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon10:c.C1882T:p.P628S",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","P","B","N","N",3.94,1.85,".",".",".","."]
["chr13",32910678,32910678,"T","C","chr13_32910678_32910678_T_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.T2186C:p.I729T",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.448e-06,"d":"9.45E-06"},0.0001,".",0.000399361,0.002,"Uncertain significance|Uncertain significance","Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs431825296","T","B","B","N","N",0.048,-1.67,".",".",".","."]
["chr13",32910842,32910842,"A","G","chr13_32910842_32910842_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.A2350G:p.M784V",{"v":0.01079136690647482,"d":"0.0107914"},24,2224,0.0003,0.0042,".",0.00359425,0.0179,"Benign|Benign|Benign|not provided|Benign|Benign","not_provided|Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|not_specified|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs11571653","T","B","B","N","N",0.001,-5.51,"CM042681","DM","Low","Breast cancer:2350A>G"]
["chr13",32911026,32911026,"C","T","chr13_32911026_32911026_C_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.C2534T:p.P845L",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","N","N",23.5,3.36,".",".",".","."]
["chr13",32911100,32911100,"A","G","chr13_32911100_32911100_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.A2608G:p.I870V",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,{"v":9.518e-06,"d":"9.52E-06"},0,".",0.000199681,".",".",".","rs546036225","T","B","B","N","N",3.337,3.3,".",".",".","."]
["chr13",32911463,32911463,"A","G","chr13_32911463_32911463_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.A2971G:p.N991D",{"v":0.1239447429009977,"d":"0.1239447"},323,2606,0.0552,0.1013,0.037254,0.0800719,0.0972,"Benign|Benign|Benign|Benign|Benign","not_provided|Breast-ovarian_cancer,_familial_2|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast","rs1799944","T","B","B","N","P",0.002,3.08,".",".",".","."]
["chr13",32911499,32911499,"C","G","chr13_32911499_32911499_C_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.C3007G:p.H1003D",{"v":0.00045004500450045,"d":"0.0004500"},1,2222,".",".",".",".",".",".",".",".","T","B","B","N","N",13.94,2.59,".",".",".","."]
["chr13",32911712,32911712,"A","T","chr13_32911712_32911712_A_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.A3220T:p.S1074C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.581e-06,"d":"9.58E-06"},0.0001,".",0.000199681,0.001,".",".","rs145605603","D","D","P","N","N",19.51,4.27,".",".",".","."]
["chr13",32911748,32911748,"A","G","chr13_32911748_32911748_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.A3256G:p.I1086V",{"v":0.0013489208633093526,"d":"0.0013489"},3,2224,{"v":2.906e-05,"d":"2.91E-05"},0.0003,7.7e-05,".",".","not provided|other|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|not_specified","rs80358571","T","B","B","N","N",0.002,0.062,".",".",".","."]
["chr13",32912286,32912286,"G","T","chr13_32912286_32912286_G_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G3794T:p.C1265F",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".","Uncertain significance|Uncertain significance","Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs397507315","T","B","B","N","N",0.001,-2.94,".",".",".","."]
["chr13",32912812,32912812,"A","C","chr13_32912812_32912812_A_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.A4320C:p.K1440N",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.911e-05,"d":"1.91E-05"},0.0003,".",".",".",".",".","rs769535925","D","D","D","N","D",23.9,3.5,".",".",".","."]
["chr13",32913346,32913346,"T","A","chr13_32913346_32913346_T_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.T4854A:p.D1618E",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,{"v":9.514e-06,"d":"9.51E-06"},0.0001,".",".",".","not provided|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2","rs80358708","T","B","B","N","N",8.13,0.465,".",".",".","."]
["chr13",32913488,32913488,"A","G","chr13_32913488_32913488_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.A4996G:p.N1666D",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":1.929e-05,"d":"1.93E-05"},0.0003,".",".",".",".",".","rs747191784","T","B","B","N","N",0.632,1.02,".",".",".","."]
["chr13",32913559,32913559,"A","-","chr13_32913559_32913559_A_-","BRCA2","frameshift deletion","BRCA2:NM_000059:exon11:c.5067delA:p.A1689fs",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",0.002495,".",".","Pathogenic|Pathogenic","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2","rs80359481",".",".",".",".",".",33,3.21,".",".",".",1]
["chr13",32913758,32913758,"G","T","chr13_32913758_32913758_G_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G5266T:p.V1756L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.013,-5.83,".",".",".","."]
["chr13",32914082,32914082,"G","A","chr13_32914082_32914082_G_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G5590A:p.D1864N",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":9.488e-06,"d":"9.49E-06"},0.0001,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs587781536","D","B","B","N","N",16.46,2.96,"CM1111063","DM","High","Oesophageal carcinoma:5590G>A"]
["chr13",32914277,32914277,"A","G","chr13_32914277_32914277_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.A5785G:p.I1929V",{"v":0.0085431654676259,"d":"0.0085432"},19,2224,0.0011,0.0103,7.7e-05,0.00139776,0.006,"Benign|Benign|Likely benign|Benign|Likely benign","Breast-ovarian_cancer,_familial_2|Hereditary_breast_and_ovarian_cancer_syndrome|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified","rs79538375","T","B","B","N","N",0.001,-5.69,"CM042683","DM","Low","Breast cancer:5785A>G"]
["chr13",32914521,32914521,"T","G","chr13_32914521_32914521_T_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.T6029G:p.V2010G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.847e-05,"d":"2.85E-05"},0.0004,".",".",".","Uncertain significance|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs80358839","T","B","B","N","N",0.632,1.71,".",".",".","."]
["chr13",32914623,32914623,"G","T","chr13_32914623_32914623_G_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G6131T:p.G2044V",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":4.728e-05,"d":"4.73E-05"},0.0006,".",0.000599042,0.003,"other|Likely benign|Benign,other|Likely benign|Benign","Breast-ovarian_cancer,_familial_2|Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome,Breast-ovarian_cancer,_familial_2|Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome","rs56191579","D","B","B","N","N",7.435,-4.18,"CM033758","DM","High","Breast cancer:6131G>T"]
["chr13",32914625,32914625,"T","G","chr13_32914625_32914625_T_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.T6133G:p.F2045V",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","N","N",7.864,1.08,".",".",".","."]
["chr13",32914817,32914817,"G","A","chr13_32914817_32914817_G_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G6325A:p.V2109I",{"v":0.005755947812739831,"d":"0.0057559"},15,2606,0.0003,0.0041,".",0.000399361,0.002,"Uncertain significance|Uncertain significance|Uncertain significance|Likely benign|Benign","not_provided|Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs79456940","T","B","B","N","N",0.003,-7.63,"CM043917","DM","Low","Breast cancer:6325G>A"]
["chr13",32914988,32914988,"G","T","chr13_32914988_32914988_G_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G6496T:p.V2166L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.607e-06,"d":"9.61E-06"},0.0001,".",".",".",".",".","rs750084851","T","B","B","N","N",0.183,-3.75,"CM065031","DM","Low","Breast cancer:6496G>T"]
["chr13",32915175,32915175,"T","C","chr13_32915175_32915175_T_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.T6683C:p.V2228A",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":1.888e-05,"d":"1.89E-05"},0,".",".",".","not provided|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs80358894","T","B","B","N","N",23.3,4.55,".",".",".","."]
["chr13",32915215,32915216,"AG","-","chr13_32915215_32915216_AG_-","BRCA2","frameshift deletion","BRCA2:NM_000059:exon11:c.6723_6724del:p.T2241fs",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".","Pathogenic|not provided","Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast","rs397507375",".",".",".",".",".",35,5.71,"CD095773","DM","High","Breast cancer:6724_6725delGA"]
["chr13",32918701,32918701,"C","T","chr13_32918701_32918701_C_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon12:c.C6848T:p.P2283L",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","D","D","D",32,4.95,".",".",".","."]
["chr13",32929041,32929041,"G","A","chr13_32929041_32929041_G_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon14:c.G7051A:p.A2351T",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":6.617e-05,"d":"6.62E-05"},0.0001,".",".",".","Uncertain significance|Uncertain significance|Uncertain significance,Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs80358930","T","P","B","N","N",23.9,1.92,".",".",".","."]
["chr13",32929042,32929042,"C","G","chr13_32929042_32929042_C_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon14:c.C7052G:p.A2351G",{"v":0.002688172043010753,"d":"0.0026882"},7,2604,0.0001,0.0013,".",0.000798722,0.004,"other|Likely benign|not provided|Likely benign|Benign,Uncertain significance|Uncertain significance","Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome,Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs80358932","D","P","B","N","N",23.1,2.03,"CM065029","DM","Low","Breast cancer:7052C>G"]
["chr13",32929297,32929297,"A","T","chr13_32929297_32929297_A_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon14:c.A7307T:p.N2436I",{"v":0.0013489208633093526,"d":"0.0013489"},3,2224,{"v":9.426e-06,"d":"9.43E-06"},0,".",".",".","Uncertain significance,Uncertain significance|Benign|Benign","Hereditary_cancer-predisposing_syndrome,Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs80358955","T","B","B","N","N",7.745,1.09,".",".",".","."]
["chr13",32930565,32930565,"A","G","chr13_32930565_32930565_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon15:c.A7436G:p.D2479G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance","Familial_cancer_of_breast","rs730881555","D","P","P","N","N",23.4,5.48,".",".",".","."]
["chr13",32930598,32930598,"T","C","chr13_32930598_32930598_T_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon15:c.T7469C:p.I2490T",{"v":0.004604758250191865,"d":"0.0046048"},12,2606,0.0159,0.0037,0.001615,0.0159744,0.003,"other|Benign|other|Benign|Benign|Benign","Breast-ovarian_cancer,_familial_2|Hereditary_breast_and_ovarian_cancer_syndrome|not_specified|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|Hereditary_Breast_and_Ovarian_Cancer","rs11571707","T","B","B","N","N",8.41,-5.83,"CM065019","DM","Low","Breast cancer:7469T>C"]
["chr13",32930609,32930609,"C","T","chr13_32930609_32930609_C_T","BRCA2","stopgain","BRCA2:NM_000059:exon15:c.C7480T:p.R2494X",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.769e-05,"d":"3.77E-05"},0.0001,".",".",".","Pathogenic|Pathogenic|Pathogenic","Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome","rs80358972",".",".",".","D","A",50,4.52,"CM002245","DM","High","Breast cancer:7480C>T"]
["chr13",32930651,32930651,"G","A","chr13_32930651_32930651_G_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon15:c.G7522A:p.G2508S",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,0.0001,0.0017,".",".",".","Likely benign|other|not provided|Uncertain significance|Likely benign","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|not_specified|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs80358978","D","D","D","D","D",34,5.48,"CM097396","DM","High","Ovarian cancer:7522G>A"]
["chr13",32937362,32937362,"A","G","chr13_32937362_32937362_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon18:c.A8023G:p.I2675V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Likely pathogenic|Likely pathogenic","Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome","rs397507954","D","D","D","D","D",25.9,4.93,"CS083875,CM152116","DM","High","Breast cancer:8023A>G,Breast and/or ovarian cancer:8023A>G"]
["chr13",32937526,32937526,"G","T","chr13_32937526_32937526_G_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon18:c.G8187T:p.K2729N",{"v":0.013046815042210284,"d":"0.0130468"},34,2606,0.0009,0.0097,".",0.00259585,0.0119,"Uncertain significance,Benign|Benign|not provided|Benign|Benign","Breast-ovarian_cancer,_familial_2,Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome","rs80359065","D","D","D","N","N",23.1,1.54,"CM021957","DM","Low","Liver cancer:8187G>T"]
["chr13",32944549,32944549,"A","G","chr13_32944549_32944549_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon19:c.A8342G:p.N2781S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",27,5.33,".",".",".","."]
["chr13",32944641,32944643,"GGA","-","chr13_32944641_32944643_GGA_-","BRCA2","nonframeshift deletion","BRCA2:NM_000059:exon19:c.8434_8436del:p.2812_2812del",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".","not provided","Familial_cancer_of_breast","rs397507986",".",".",".",".",".",22.9,5.19,"CD064511","DM","High","Breast cancer:8437_8439delGGA"]
["chr13",32945130,32945130,"G","A","chr13_32945130_32945130_G_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon20:c.G8525A:p.R2842H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.596e-05,"d":"6.60E-05"},0.0006,".",0.000199681,0.001,"Likely benign|Benign|Benign|Likely benign,Uncertain significance|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome,Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided","rs80359105","D","D","D","D","D",35,5.1,".",".",".","."]
["chr13",32950891,32950892,"AA","-","chr13_32950891_32950892_AA_-","BRCA2","frameshift deletion","BRCA2:NM_000059:exon21:c.8717_8718del:p.E2906fs",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".","not provided","Familial_cancer_of_breast","rs397508003",".",".",".",".",".",35,4.12,"CD022537","DM","High","Breast and/or ovarian cancer:8717_8718delAA"]
["chr13",32953643,32953643,"A","C","chr13_32953643_32953643_A_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon22:c.A8944C:p.K2982Q",{"v":0.0009025270758122744,"d":"0.0009025"},2,2216,{"v":6.629e-05,"d":"6.63E-05"},0,".",".",".","Uncertain significance|Uncertain significance","Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2","rs80359145","D","D","B","N","N",15.78,2.76,".",".",".","."]
["chr13",32954192,32954192,"C","T","chr13_32954192_32954192_C_T","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon24:c.C9166T:p.H3056Y",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",11.31,2.69,".",".",".","."]
["chr13",32968844,32968844,"A","G","chr13_32968844_32968844_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon25:c.A9275G:p.Y3092C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":5.973e-05,"d":"5.97E-05"},0,".",".",".","Uncertain significance|Uncertain significance,not provided|other|Likely benign,Uncertain significance|Uncertain significance","Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome,Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome","rs80359195","D","D","D","D","D",25.3,5.9,"CM004194","DM","High","Breast cancer:9275A>G"]
["chr13",32968878,32968878,"A","G","chr13_32968878_32968878_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon25:c.A9309G:p.I3103M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","not provided|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2","rs80359204","D","D","D","N","N",23.3,0.513,".",".",".","."]
["chr13",32968979,32968979,"C","A","chr13_32968979_32968979_C_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon25:c.C9410A:p.T3137N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","N",26.4,4.15,".",".",".","."]
["chr13",32972683,32972683,"G","A","chr13_32972683_32972683_G_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon27:c.G10033A:p.A3345T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",0.000199681,".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs546597661","D","D","D","D","D",33,5.72,".",".",".","."]
["chr13",32972781,32972781,"A","C","chr13_32972781_32972781_A_C","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon27:c.A10131C:p.E3377D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.127,-1.8,".",".",".","."]
["chr13",32972801,32972801,"G","A","chr13_32972801_32972801_G_A","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon27:c.G10151A:p.R3384Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2","rs80358397","T","P","B","N","N",24.8,2.92,".",".",".","."]
["chr13",32972884,32972884,"A","G","chr13_32972884_32972884_A_G","BRCA2","nonsynonymous SNV","BRCA2:NM_000059:exon27:c.A10234G:p.I3412V",{"v":0.025179856115107913,"d":"0.0251799"},56,2224,0.0239,0.0266,0.03729,0.0449281,0.0208,"Benign|Benign|Benign|Benign|Benign","not_provided|Breast-ovarian_cancer,_familial_2|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast","rs1801426","T","B","B","N","N",0.104,-0.286,"CM970189","DM","Low","Breast cancer:10234A>G"]
["chr13",48923141,48923141,"A","G","chr13_48923141_48923141_A_G","RB1","nonsynonymous SNV","RB1:NM_000321:exon6:c.A589G:p.T197A",{"v":0.0003852080123266564,"d":"0.0003852"},1,2596,".",".",".",".",".",".",".",".","D","P","B","D","D",23.7,5.23,".",".",".","."]
["chr13",48934188,48934188,"T","C","chr13_48934188_48934188_T_C","RB1","nonsynonymous SNV","RB1:NM_000321:exon7:c.T643C:p.S215P",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":1.888e-05,"d":"1.89E-05"},0.0003,".",".",".",".",".","rs748923368","T","D","P","D","D",24.7,5.59,".",".",".","."]
["chr13",48939075,48939075,"C","G","chr13_48939075_48939075_C_G","RB1","nonsynonymous SNV","RB1:NM_000321:exon9:c.C907G:p.L303V",{"v":0.0003869969040247678,"d":"0.0003870"},1,2584,".",".",".",".",".",".",".",".","T","B","B","N","D",18.41,5.58,".",".",".","."]
["chr13",48947587,48947587,"G","A","chr13_48947587_48947587_G_A","RB1","nonsynonymous SNV","RB1:NM_000321:exon12:c.G1174A:p.A392T",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,{"v":9.441e-06,"d":"9.44E-06"},0,".",0.000199681,".",".",".","rs181988132","T","P","B","D","D",22.6,4.69,".",".",".","."]
["chr13",48955457,48955457,"G","A","chr13_48955457_48955457_G_A","RB1","nonsynonymous SNV","RB1:NM_000321:exon17:c.G1573A:p.A525T",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,0.0001,0.0001,".",".",".","not provided","not_specified","rs587778640","D","D","D","D","D",26.1,5.34,".",".",".","."]
["chr13",49030386,49030386,"C","A","chr13_49030386_49030386_C_A","RB1","nonsynonymous SNV","RB1:NM_000321:exon19:c.C1861A:p.R621S",{"v":0.002686108979278588,"d":"0.0026861"},7,2606,0.0001,0.0017,".",".",".","not provided","not_specified","rs367578442","T","B","B","D","D",22.5,5.97,"CM144790","DM","Low","Retinoblastoma:1861C>A"]
["chr13",49039470,49039470,"C","G","chr13_49039470_49039470_C_G","RB1","nonsynonymous SNV","RB1:NM_000321:exon23:c.C2455G:p.L819V",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":5.678e-05,"d":"5.68E-05"},0.0006,".",".",".",".",".","rs375751988","T","B","B","N","N",13.23,0.046,"CM144791","DM","Low","Retinoblastoma:2455C>G"]
["chr14",23883054,23883054,"C","G","chr14_23883054_23883054_C_G","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon39:c.G5704C:p.E1902Q",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":8.474e-05,"d":"8.47E-05"},0.0011,".",0.000399361,0.002,"Uncertain significance,Uncertain significance","not_specified,Cardiomyopathy","rs187073962","D","P","P",".","D",27.2,5.6,"CM148166","DM","Low","Cardiomyopathy  hypertrophic:5704G>C"]
["chr14",23884924,23884924,"C","T","chr14_23884924_23884924_C_T","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon35:c.G5071A:p.V1691M",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":9.417e-05,"d":"9.42E-05"},0,".",0.000199681,".","Uncertain significance","Left_ventricular_noncompaction_cardiomyopathy","rs45464193","T","B","B",".","D",23.1,5.31,"CM031282","DM","High","Cardiomyopathy  hypertrophic:5071G>A"]
["chr14",23885225,23885225,"C","G","chr14_23885225_23885225_C_G","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon34:c.G4941C:p.Q1647H",{"v":0.0008992805755395684,"d":"0.0008993"},2,2224,{"v":9.417e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs749154313","D","B","B",".","D",19.02,2.72,"CM133944","DM","High","Cardiomyopathy  hypertrophic:4941G>C"]
["chr14",23886841,23886841,"A","T","chr14_23886841_23886841_A_T","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon31:c.T4224A:p.N1408K",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","D",".","D",21.7,-8.69,".",".",".","."]
["chr14",23887458,23887458,"G","A","chr14_23887458_23887458_G_A","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon30:c.C4130T:p.T1377M",{"v":0.0004520795660036166,"d":"0.0004521"},1,2212,".",".",".",".",".","Uncertain significance|Pathogenic","not_specified|Primary_familial_hypertrophic_cardiomyopathy","rs397516201","D","D","D",".","D",31,4.83,"CM034558","DM","High","Cardiomyopathy  hypertrophic:4130C>T"]
["chr14",23888715,23888715,"C","T","chr14_23888715_23888715_C_T","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon28:c.G3830A:p.R1277Q",{"v":0.0004068348250610252,"d":"0.0004068"},1,2458,{"v":3.766e-05,"d":"3.77E-05"},0,".",".",".","Uncertain significance,Uncertain significance","Left_ventricular_noncompaction_cardiomyopathy,not_specified","rs397516195","D","P","B",".","D",28.8,4.99,"CM133941","DM","High","Cardiomyopathy  hypertrophic:3830G>A"]
["chr14",23888744,23888744,"C","G","chr14_23888744_23888744_C_G","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon28:c.G3801C:p.Q1267H",{"v":0.0030911901081916537,"d":"0.0030912"},8,2588,{"v":2.825e-05,"d":"2.83E-05"},0.0004,".",0.000399361,0.002,".",".","rs200000290","D","D","D",".","D",23.7,2.16,".",".",".","."]
["chr14",23891500,23891500,"C","T","chr14_23891500_23891500_C_T","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon25:c.G3134A:p.R1045H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0001,".",".",".","Likely pathogenic|Pathogenic","Primary_familial_hypertrophic_cardiomyopathy|Cardiomyopathy","rs397516178","D","D","D",".","D",28.7,4.64,"CM094389","DM","High","Cardiomyopathy  hypertrophic:3134G>A"]
["chr14",23893147,23893147,"A","T","chr14_23893147_23893147_A_T","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon23:c.T2891A:p.V964E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D",".","D",29.1,5.33,".",".",".","."]
["chr14",23902865,23902865,"G","A","chr14_23902865_23902865_G_A","MYH7","nonsynonymous SNV","MYH7:NM_000257:exon3:c.C77T:p.A26V",{"v":0.009600614439324117,"d":"0.0096006"},25,2604,0.0006,0.0076,7.7e-05,0.00159744,0.0079,"Likely benign|other|Likely benign|Likely pathogenic","not_specified|Primary_familial_hypertrophic_cardiomyopathy|Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1","rs186964570","T","B","B",".","D",24.1,2.36,"CM962617","DM","High","Cardiomyopathy  hypertrophic:77C>T"]
["chr15",48703417,48703417,"C","T","chr15_48703417_48703417_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon66:c.G8386A:p.E2796K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs112310699","T","B","B","D","D",16.14,4.13,".",".",".","."]
["chr15",48704923,48704923,"A","C","chr15_48704923_48704923_A_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon65:c.T8069G:p.M2690R",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":3.766e-05,"d":"3.77E-05"},0.0005,".",".",".",".",".","rs747476726","D","B","B","N","D",20.4,5.38,".",".",".","."]
["chr15",48717984,48717984,"T","C","chr15_48717984_48717984_T_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon59:c.A7282G:p.I2428V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",8.973,2.46,".",".",".","."]
["chr15",48718025,48718025,"C","T","chr15_48718025_48718025_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon59:c.G7241A:p.R2414Q",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.885e-05,"d":"1.89E-05"},0,7.7e-05,".",".","Likely benign","Marfan_syndrome","rs143863014","T","B","B","N","D",22.9,4.3,"CM062706","DM","Low","Marfan syndrome:7241G>A"]
["chr15",48718035,48718035,"C","T","chr15_48718035_48718035_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon59:c.G7231A:p.D2411N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.886e-05,"d":"1.89E-05"},0.0001,".",".",".",".",".","rs775558051","T","B","B","D","D",22,6.17,".",".",".","."]
["chr15",48720553,48720553,"G","C","chr15_48720553_48720553_G_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon57:c.C6987G:p.D2329E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0005,0.0058,0.000385,0.00139776,0.005,".",".","rs363831","T","P","B","D","N",10.93,-10.7,"CM158984","DM","High","Thoracic aortic aneurysms and dissections:6987C>G"]
["chr15",48725077,48725077,"C","T","chr15_48725077_48725077_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon55:c.G6725A:p.R2242H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.826e-05,"d":"2.83E-05"},0.0003,".",".",".",".",".","rs773084230","T","P","P","D","D",28.2,4.19,".",".",".","."]
["chr15",48737599,48737599,"A","G","chr15_48737599_48737599_A_G","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon48:c.T5891C:p.V1964A",{"v":0.00045413260672116256,"d":"0.0004541"},1,2202,".",".",".",".",".",".",".",".","D","B","B","D","N",21.4,4.42,".",".",".","."]
["chr15",48741040,48741040,"T","C","chr15_48741040_48741040_T_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon46:c.A5596G:p.I1866V",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":3.806e-05,"d":"3.81E-05"},0.0004,7.7e-05,".",".",".",".","rs367586350","T","B","B","D","D",12.48,6.16,".",".",".","."]
["chr15",48752476,48752476,"A","G","chr15_48752476_48752476_A_G","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon43:c.T5263C:p.F1755L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","D","D",21,6.16,".",".",".","."]
["chr15",48760689,48760689,"T","C","chr15_48760689_48760689_T_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon37:c.A4502G:p.N1501S",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","D","D",14.88,5.64,".",".",".","."]
["chr15",48764771,48764771,"C","T","chr15_48764771_48764771_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon35:c.G4313A:p.S1438N",{"v":0.0023023791250959325,"d":"0.0023024"},6,2606,{"v":6.591e-05,"d":"6.59E-05"},0.0009,".",".",".","Uncertain significance|Uncertain significance","Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection","rs587782945","T","P","P","D","D",25.7,5.81,".",".",".","."]
["chr15",48776083,48776083,"A","T","chr15_48776083_48776083_A_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon31:c.T3770A:p.I1257N",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,".",".",".",".",".",".",".",".","D","P","B","D","D",28.6,6.17,".",".",".","."]
["chr15",48779530,48779530,"G","C","chr15_48779530_48779530_G_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon28:c.C3442G:p.P1148A",{"v":0.2854950115118956,"d":"0.2854950"},744,2606,0.0309,0.247,0.003619,0.0597045,0.2292,"Benign|Benign|Benign|Benign","Marfan_syndrome|FNB1_POLYMORPHISM|not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection","rs140598","T","B","B","D","P",22.7,5.6,".",".",".","."]
["chr15",48779532,48779532,"G","T","chr15_48779532_48779532_G_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon28:c.C3440A:p.S1147Y",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","B","N","D",24,5.6,".",".",".","."]
["chr15",48780631,48780631,"T","C","chr15_48780631_48780631_T_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon26:c.A3142G:p.I1048V",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".","rs2229324","T","B","B","D","D",23,6.17,".",".",".","."]
["chr15",48782087,48782087,"C","T","chr15_48782087_48782087_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon25:c.G3043A:p.A1015T",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":2.826e-05,"d":"2.83E-05"},0.0004,".",0.000199681,0.001,".",".","rs55831697","T","B","B","D","D",23.4,5.56,"CM062715","DM","High","Marfan syndrome:3043G>A"]
["chr15",48784727,48784727,"T","C","chr15_48784727_48784727_T_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon24:c.A2785G:p.T929A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.418e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs372203315","D","B","B","D","D",15.85,2.5,".",".",".","."]
["chr15",48787397,48787397,"T","C","chr15_48787397_48787397_T_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon22:c.A2600G:p.N867S",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,0.0001,0.0003,0.000154,".",".",".",".","rs145464311","T","D","D","D","D",23.7,5.58,".",".",".","."]
["chr15",48787418,48787418,"C","T","chr15_48787418_48787418_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon22:c.G2579A:p.G860E",{"v":0.0007686395080707148,"d":"0.0007686"},2,2602,{"v":9.434e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs757219243","D","D","P","D","D",30,5.58,".",".",".","."]
["chr15",48796112,48796112,"T","C","chr15_48796112_48796112_T_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon17:c.A1985G:p.Y662C",{"v":0.0003875968992248062,"d":"0.0003876"},1,2580,".",".",".",".",".",".",".",".","D","D","D","D","D",28.2,5.53,".",".",".","."]
["chr15",48802330,48802330,"T","C","chr15_48802330_48802330_T_C","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon14:c.A1625G:p.N542S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","D",1.418,0.635,".",".",".","."]
["chr15",48808430,48808430,"G","A","chr15_48808430_48808430_G_A","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon11:c.C1277T:p.P426L",{"v":0.0003875968992248062,"d":"0.0003876"},1,2580,{"v":4.721e-05,"d":"4.72E-05"},0.0003,7.7e-05,".",".",".",".","rs146044644","T","B","B","N","N",15.94,2.71,".",".",".","."]
["chr15",48808487,48808487,"C","A","chr15_48808487_48808487_C_A","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon11:c.G1220T:p.G407V",{"v":0.0003897116134060795,"d":"0.0003897"},1,2566,".",".",".",".",".",".",".",".","T","B","B","D","D",16.62,3.67,".",".",".","."]
["chr15",48829846,48829846,"C","T","chr15_48829846_48829846_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon7:c.G698A:p.R233H",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":2.831e-05,"d":"2.83E-05"},0.0004,".",".",".",".",".","rs770140872","D","D","D","D","D",32,5.44,"CM158979","DM","High","Thoracic aortic aneurysms and dissections:698G>A"]
["chr15",48829943,48829943,"C","T","chr15_48829943_48829943_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon7:c.G601A:p.G201R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.884e-05,"d":"1.88E-05"},0.0001,".",".",".",".",".","rs748358548","D","D","D","D","D",34,5.44,".",".",".","."]
["chr15",48936888,48936888,"C","T","chr15_48936888_48936888_C_T","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon2:c.G79A:p.A27T",{"v":0.0049884881043745204,"d":"0.0049885"},13,2606,0.0005,0.0065,".",0.00119808,0.006,"Likely benign|Likely benign","not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection","rs25397","T","B","B","N","N",18.36,0.324,".",".",".","."]
["chr15",48936954,48936954,"G","A","chr15_48936954_48936954_G_A","FBN1","nonsynonymous SNV","FBN1:NM_000138:exon2:c.C13T:p.R5C",{"v":0.00045330915684496827,"d":"0.0004533"},1,2206,{"v":9.626e-06,"d":"9.63E-06"},0.0001,".",".",".",".",".","rs759323371","D","B","B","N","N",24.6,3.7,".",".",".","."]
["chr15",63335092,63335092,"G","A","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",{"v":0.0003878975950349108,"d":"0.0003879"},1,2578,{"v":1.166e-05,"d":"1.17E-05"},0,".",0.000199681,".","Uncertain significance|Pathogenic","not_specified|Cardiomyopathy","rs397516382","D","D","D","D","D",33,4.61,"CM119683","DM","High","Cardiomyopathy  hypertrophic:64G>A"]
["chr15",63340791,63340791,"C","T","chr15_63340791_63340791_C_T","TPM1","nonsynonymous SNV","TPM1:NM_001018008:exon1:c.C17T:p.S6L,TPM1:NM_001301289:exon1:c.C17T:p.S6L",{"v":0.0004775549188156638,"d":"0.0004776"},1,2094,".",".",".",".",".",".",".",".","D","P","B",".","D",14.61,3.83,".",".",".","."]
["chr15",67457614,67457614,"C","T","chr15_67457614_67457614_C_T","SMAD3","nonsynonymous SNV","SMAD3:NM_001145102:exon3:c.C109T:p.R37C,SMAD3:NM_001145103:exon3:c.C292T:p.R98C,SMAD3:NM_005902:exon3:c.C424T:p.R142C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",35,3.7,".",".",".","."]
["chr15",67457698,67457698,"A","G","chr15_67457698_67457698_A_G","SMAD3","nonsynonymous SNV","SMAD3:NM_001145102:exon3:c.A193G:p.I65V,SMAD3:NM_001145103:exon3:c.A376G:p.I126V,SMAD3:NM_005902:exon3:c.A508G:p.I170V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0398,0.0004,0.040462,0.0189696,".","Benign","not_specified","rs35874463","T","B","B","D","D",13.45,4.95,".",".",".","."]
["chr15",67459188,67459188,"G","A","chr15_67459188_67459188_G_A","SMAD3","nonsynonymous SNV","SMAD3:NM_001145104:exon2:c.G19A:p.A7T,SMAD3:NM_001145102:exon4:c.G289A:p.A97T,SMAD3:NM_001145103:exon4:c.G472A:p.A158T,SMAD3:NM_005902:exon4:c.G604A:p.A202T",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":2.89e-05,"d":"2.89E-05"},0.0004,".",".",".",".",".","rs760091844","T","B","B","D","D",20.4,5.17,".",".",".","."]
["chr15",67462909,67462909,"C","A","chr15_67462909_67462909_C_A","SMAD3","nonsynonymous SNV","SMAD3:NM_001145104:exon3:c.C40A:p.P14T,SMAD3:NM_001145102:exon5:c.C310A:p.P104T,SMAD3:NM_001145103:exon5:c.C493A:p.P165T,SMAD3:NM_005902:exon5:c.C625A:p.P209T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",23.1,5.06,".",".",".","."]
["chr15",67477106,67477106,"G","A","chr15_67477106_67477106_G_A","SMAD3","nonsynonymous SNV","SMAD3:NM_001145104:exon5:c.G328A:p.A110T,SMAD3:NM_001145102:exon7:c.G598A:p.A200T,SMAD3:NM_001145103:exon7:c.G781A:p.A261T,SMAD3:NM_005902:exon7:c.G913A:p.A305T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",26.9,5.28,".",".",".","."]
["chr16",2104345,2104345,"G","T","chr16_2104345_2104345_G_T","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon5:c.G385T:p.D129Y,TSC2:NM_001077183:exon5:c.G385T:p.D129Y,TSC2:NM_001114382:exon5:c.G385T:p.D129Y",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs771961048","D","D","D","D","D",22.9,2.63,".",".",".","."]
["chr16",2105507,2105507,"G","A","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",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":4.708e-05,"d":"4.71E-05"},0.0004,".",".",".","not provided|Likely benign","Tuberous_sclerosis_syndrome|not_specified","rs45517113","T","D","D","D","D",17.82,4.94,"CM090970","DM","Low","Tuberous sclerosis:586G>A"]
["chr16",2108755,2108755,"A","G","chr16_2108755_2108755_A_G","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon10:c.A856G:p.M286V,TSC2:NM_001077183:exon10:c.A856G:p.M286V,TSC2:NM_001114382:exon10:c.A856G:p.M286V",{"v":0.014976958525345621,"d":"0.0149770"},39,2604,0.0043,0.0419,0.000463,0.0061901,0.0308,"not provided|Benign|Benign","Tuberous_sclerosis_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs1800748","T","P","P","D","D",5.239,5.12,".",".",".","."]
["chr16",2110684,2110684,"C","T","chr16_2110684_2110684_C_T","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon11:c.C989T:p.P330L,TSC2:NM_001077183:exon11:c.C989T:p.P330L,TSC2:NM_001114382:exon11:c.C989T:p.P330L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.766e-05,"d":"3.77E-05"},0,0.000154,".",".",".",".","rs140910086","D","D","P","D","D",22.2,4.6,".",".",".","."]
["chr16",2110795,2110795,"G","A","chr16_2110795_2110795_G_A","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon11:c.G1100A:p.R367Q,TSC2:NM_001077183:exon11:c.G1100A:p.R367Q,TSC2:NM_001114382:exon11:c.G1100A:p.R367Q",{"v":0.0007704160246533128,"d":"0.0007704"},2,2596,0.0132,0,0.015005,0.00878594,".","Benign|not provided|other|Benign|Benign,not provided","not_provided|Tuberous_sclerosis_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2,Tuberous_sclerosis_syndrome","rs1800725","T","D","D","D","D",23.8,4.6,"CM091923","DM","Low","Tuberous sclerosis:1100G>A"]
["chr16",2115529,2115529,"C","T","chr16_2115529_2115529_C_T","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon16:c.C1609T:p.R537C,TSC2:NM_001077183:exon16:c.C1609T:p.R537C,TSC2:NM_001114382:exon16:c.C1609T:p.R537C",{"v":0.001921598770176787,"d":"0.0019216"},5,2602,0.0002,0.001,0.000462,0.000599042,".","not provided","Tuberous_sclerosis_syndrome","rs142257684","D","D","D","D","D",32,5.56,".",".",".","."]
["chr16",2115542,2115542,"C","G","chr16_2115542_2115542_C_G","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon16:c.C1622G:p.P541R,TSC2:NM_001077183:exon16:c.C1622G:p.P541R,TSC2:NM_001114382:exon16:c.C1622G:p.P541R",{"v":0.0007692307692307692,"d":"0.0007692"},2,2600,{"v":9.415e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs752953762","T","B","B","N","N",2.635,2.07,".",".",".","."]
["chr16",2121610,2121610,"G","A","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",{"v":0.0003852080123266564,"d":"0.0003852"},1,2596,0.0004,0.0003,7.7e-05,0.000399361,0.001,"Uncertain significance|Uncertain significance|Likely benign","not_provided|Tuberous_sclerosis_syndrome|not_specified","rs45509392","D","D","D","D","D",32,5.45,"CM993766","DM","High","Tuberous sclerosis:1939G>A"]
["chr16",2121850,2121850,"G","A","chr16_2121850_2121850_G_A","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon19:c.G2012A:p.G671D,TSC2:NM_001077183:exon19:c.G2012A:p.G671D,TSC2:NM_001114382:exon19:c.G2012A:p.G671D",{"v":0.00046948356807511736,"d":"0.0004695"},1,2130,{"v":2.752e-05,"d":"2.75E-05"},0.0004,".",".",".",".",".","rs775881847","T","P","B","N","N",7.178,3.39,".",".",".","."]
["chr16",2124204,2124204,"G","A","chr16_2124204_2124204_G_A","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon22:c.G2359A:p.E787K,TSC2:NM_001077183:exon22:c.G2359A:p.E787K,TSC2:NM_001114382:exon22:c.G2359A:p.E787K",{"v":0.0013333333333333333,"d":"0.0013333"},1,750,".",".",".",".",".",".",".",".","T","D","D","D","D",26.7,5.35,".",".",".","."]
["chr16",2124249,2124249,"A","G","chr16_2124249_2124249_A_G","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon22:c.A2404G:p.S802G,TSC2:NM_001077183:exon22:c.A2404G:p.S802G,TSC2:NM_001114382:exon22:c.A2404G:p.S802G",{"v":0.002577319587628866,"d":"0.0025773"},2,776,{"v":8.489e-05,"d":"8.49E-05"},0.0011,".",0.000199681,0.001,".",".","rs200929621","T","B","B","N","D",16.79,4.24,".",".",".","."]
["chr16",2125839,2125839,"C","T","chr16_2125839_2125839_C_T","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon23:c.C2585T:p.A862V,TSC2:NM_001077183:exon23:c.C2585T:p.A862V,TSC2:NM_001114382:exon23:c.C2585T:p.A862V",{"v":0.0007686395080707148,"d":"0.0007686"},2,2602,{"v":1.886e-05,"d":"1.89E-05"},0,".",".",".","not provided","Tuberous_sclerosis_syndrome","rs45517249","T","P","P","D","D",25.6,4.97,".",".",".","."]
["chr16",2129354,2129354,"C","T","chr16_2129354_2129354_C_T","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon27:c.C3077T:p.T1026M,TSC2:NM_000548:exon28:c.C3209T:p.T1070M,TSC2:NM_001114382:exon28:c.C3209T:p.T1070M",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":2.828e-05,"d":"2.83E-05"},0.0001,7.7e-05,".",".",".",".","rs147989574","D","D","D","D","D",29.1,4.71,".",".",".","."]
["chr16",2130243,2130243,"C","T","chr16_2130243_2130243_C_T","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon29:c.C3343T:p.R1115W,TSC2:NM_000548:exon30:c.C3475T:p.R1159W,TSC2:NM_001114382:exon30:c.C3475T:p.R1159W",{"v":0.008468052347959968,"d":"0.0084681"},22,2598,0.0004,0.0053,".",0.00159744,0.0079,"not provided|Likely benign|Uncertain significance","Tuberous_sclerosis_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs45517295","D","D","B","N","N",24,3.72,".",".",".","."]
["chr16",2130264,2130264,"C","T","chr16_2130264_2130264_C_T","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon29:c.C3364T:p.P1122S,TSC2:NM_000548:exon30:c.C3496T:p.P1166S,TSC2:NM_001114382:exon30:c.C3496T:p.P1166S",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,".",".",".",".",".",".",".",".","T","B","B","N","N",1.052,-2.89,".",".",".","."]
["chr16",2130273,2130273,"G","A","chr16_2130273_2130273_G_A","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon29:c.G3373A:p.A1125T,TSC2:NM_000548:exon30:c.G3505A:p.A1169T,TSC2:NM_001114382:exon30:c.G3505A:p.A1169T",{"v":0.0007710100231303007,"d":"0.0007710"},2,2594,{"v":9.436e-06,"d":"9.44E-06"},0.0001,".",".",".",".",".","rs773900333","T","B","B","N","N",0.609,-1.98,".",".",".","."]
["chr16",2130289,2130289,"G","A","chr16_2130289_2130289_G_A","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon29:c.G3389A:p.R1130Q,TSC2:NM_000548:exon30:c.G3521A:p.R1174Q,TSC2:NM_001114382:exon30:c.G3521A:p.R1174Q",{"v":0.001557632398753894,"d":"0.0015576"},4,2568,{"v":9.44e-06,"d":"9.44E-06"},0.0001,".",".",".",".",".","rs368666554","T","B","B","N","N",0.121,-1.02,".",".",".","."]
["chr16",2131718,2131718,"C","T","chr16_2131718_2131718_C_T","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon30:c.C3601T:p.R1201W,TSC2:NM_000548:exon31:c.C3733T:p.R1245W,TSC2:NM_001114382:exon31:c.C3733T:p.R1245W",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.428e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs777489742","D","D","P","D","D",35,4.7,".",".",".","."]
["chr16",2132497,2132497,"C","T","chr16_2132497_2132497_C_T","TSC2","nonsynonymous SNV","TSC2:NM_000548:exon32:c.C3875T:p.S1292F",{"v":0.00038550501156515033,"d":"0.0003855"},1,2594,".",".",".",".",".",".",".",".","D","D","D","D","D",28.6,4.25,".",".",".","."]
["chr16",2133801,2133801,"C","T","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",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":2.326e-05,"d":"2.33E-05"},0.0002,".",0.000199681,0.001,"not provided|not provided|Uncertain significance","Autism_spectrum_disorders|Tuberous_sclerosis_syndrome|not_specified","rs397515209","T","D","P","N","N",12.29,0.029,"CM122780","DM","High","Tuberous sclerosis:3989C>T"]
["chr16",2134304,2134304,"C","G","chr16_2134304_2134304_C_G","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon32:c.C3880G:p.R1294G,TSC2:NM_001114382:exon33:c.C4012G:p.R1338G,TSC2:NM_000548:exon34:c.C4081G:p.R1361G",{"v":0.0003875968992248062,"d":"0.0003876"},1,2580,".",".",".",".",".",".",".","rs560831385","D","D","D","N","N",11.79,1.33,".",".",".","."]
["chr16",2134317,2134317,"C","T","chr16_2134317_2134317_C_T","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon32:c.C3893T:p.S1298L,TSC2:NM_001114382:exon33:c.C4025T:p.S1342L,TSC2:NM_000548:exon34:c.C4094T:p.S1365L",{"v":0.0026985350809560524,"d":"0.0026985"},7,2594,0.0001,0.0004,7.7e-05,".",".","Likely benign","not_specified","rs377123510","D","D","B","N","N",21.9,2.86,".",".",".","."]
["chr16",2134439,2134439,"G","A","chr16_2134439_2134439_G_A","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon32:c.G4015A:p.D1339N,TSC2:NM_001114382:exon33:c.G4147A:p.D1383N,TSC2:NM_000548:exon34:c.G4216A:p.D1406N",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":2.208e-05,"d":"2.21E-05"},0,7.7e-05,".",".",".",".","rs147719291","T","P","B","N","N",6.551,1.65,".",".",".","."]
["chr16",2134535,2134535,"C","T","chr16_2134535_2134535_C_T","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon32:c.C4111T:p.R1371W,TSC2:NM_001114382:exon33:c.C4243T:p.R1415W,TSC2:NM_000548:exon34:c.C4312T:p.R1438W",{"v":0.00045045045045045046,"d":"0.0004505"},1,2220,{"v":1.125e-05,"d":"1.13E-05"},0,".",".",".","Uncertain significance","not_specified","rs778925833","D","D","P","N","D",27.6,5.16,".",".",".","."]
["chr16",2134536,2134536,"G","C","chr16_2134536_2134536_G_C","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon32:c.G4112C:p.R1371P,TSC2:NM_001114382:exon33:c.G4244C:p.R1415P,TSC2:NM_000548:exon34:c.G4313C:p.R1438P",{"v":0.00045004500450045,"d":"0.0004500"},1,2222,".",".",".",".",".",".",".",".","D","D","P","N","N",16.42,-6.31,".",".",".","."]
["chr16",2134692,2134692,"A","G","chr16_2134692_2134692_A_G","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon32:c.A4268G:p.E1423G,TSC2:NM_001114382:exon33:c.A4400G:p.E1467G,TSC2:NM_000548:exon34:c.A4469G:p.E1490G",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,0.0002,0.0023,".",".",".",".",".","rs759882146","D","D","D","D","D",26.5,5.17,".",".",".","."]
["chr16",2134982,2134984,"CTT","-","chr16_2134982_2134984_CTT_-","TSC2","nonframeshift deletion","TSC2:NM_001077183:exon33:c.4323_4325del:p.1441_1442del,TSC2:NM_001114382:exon34:c.4455_4457del:p.1485_1486del,TSC2:NM_000548:exon35:c.4524_4526del:p.1508_1509del",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,0.0054,0,0.004395,0.00399361,".","Likely benign|not provided|Benign|Likely benign|Benign","not_provided|Tuberous_sclerosis_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2","rs137854239",".",".",".",".",".",16.11,5.25,"CD962170","DM","Low","Tuberous sclerosis:4527_4529delCTT"]
["chr16",2135300,2135300,"G","A","chr16_2135300_2135300_G_A","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon34:c.G4438A:p.V1480I,TSC2:NM_001114382:exon35:c.G4570A:p.V1524I,TSC2:NM_000548:exon36:c.G4639A:p.V1547I",{"v":0.001152073732718894,"d":"0.0011521"},3,2604,{"v":2.828e-05,"d":"2.83E-05"},0.0001,".",".",".",".",".","rs745895675","T","D","D","D","D",26.4,4.45,".",".",".","."]
["chr16",2136354,2136354,"A","G","chr16_2136354_2136354_A_G","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon35:c.A4622G:p.Y1541C,TSC2:NM_001114382:exon36:c.A4754G:p.Y1585C,TSC2:NM_000548:exon37:c.A4823G:p.Y1608C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.91e-05,"d":"2.91E-05"},0,".",".",".",".",".","rs759795928","T","D","D","D","D",26.4,4.21,".",".",".","."]
["chr16",2137907,2137907,"A","G","chr16_2137907_2137907_A_G","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon37:c.A4832G:p.Y1611C,TSC2:NM_001114382:exon38:c.A4964G:p.Y1655C,TSC2:NM_000548:exon39:c.A5033G:p.Y1678C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","D","D",23.8,4.59,".",".",".","."]
["chr16",2137925,2137958,"CCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG","-","chr16_2137925_2137958_CCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG_-","TSC2","nonframeshift deletion","TSC2:NM_001077183:exon37:c.4850_4867del:p.1617_1623del,TSC2:NM_001114382:exon38:c.4982_4999del:p.1661_1667del,TSC2:NM_000548:exon39:c.5051_5068del:p.1684_1690del",{"v":0.006756756756756757,"d":"0.0067568"},15,2220,0.0023,0.0035,".",0.00259585,0.006,"not provided","Tuberous_sclerosis_syndrome","rs137854209",".",".",".",".",".",36,4.59,".",".",".",1]
["chr16",2138453,2138453,"G","A","chr16_2138453_2138453_G_A","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon40:c.G5065A:p.E1689K,TSC2:NM_001114382:exon41:c.G5197A:p.E1733K,TSC2:NM_000548:exon42:c.G5266A:p.E1756K",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":1.886e-05,"d":"1.89E-05"},0,7.7e-05,".",".","Uncertain significance","not_specified","rs375075952","T","D","D","D","D",25.4,4.51,".",".",".","."]
["chr16",2138505,2138505,"A","G","chr16_2138505_2138505_A_G","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon40:c.A5117G:p.H1706R,TSC2:NM_001114382:exon41:c.A5249G:p.H1750R,TSC2:NM_000548:exon42:c.A5318G:p.H1773R",{"v":0.001152073732718894,"d":"0.0011521"},3,2604,".",".",".",".",".",".",".",".","T","P","B","N","N",1.825,3.39,".",".",".","."]
["chr16",2138531,2138531,"G","A","chr16_2138531_2138531_G_A","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon40:c.G5143A:p.A1715T,TSC2:NM_001114382:exon41:c.G5275A:p.A1759T,TSC2:NM_000548:exon42:c.G5344A:p.A1782T",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".",".",".",".","T","B","B","N","N",1.748,-0.371,".",".",".","."]
["chr16",2138571,2138571,"G","A","chr16_2138571_2138571_G_A","TSC2","nonsynonymous SNV","TSC2:NM_001077183:exon40:c.G5183A:p.R1728H,TSC2:NM_001114382:exon41:c.G5315A:p.R1772H,TSC2:NM_000548:exon42:c.G5384A:p.R1795H",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,{"v":4.82e-05,"d":"4.82E-05"},0,0.000231,".",".","not provided","Tuberous_sclerosis_syndrome","rs137854288","D","D","D","D","D",29.8,4.64,".",".",".","."]
["chr16",15797864,15797864,"G","T","chr16_15797864_15797864_G_T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon41:c.C5903A:p.T1968N,MYH11:NM_001040114:exon42:c.C5924A:p.T1975N",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","B","D","D",11.03,4.47,".",".",".","."]
["chr16",15802688,15802688,"G","C","chr16_15802688_15802688_G_C","MYH11","nonsynonymous SNV","MYH11:NM_022844:exon41:c.C5797G:p.P1933A,MYH11:NM_001040113:exon42:c.C5818G:p.P1940A",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,0.0003,0.0003,".",0.000199681,".",".",".","rs200884440","T","B","B",".","D",19.59,4.19,".",".",".","."]
["chr16",15802693,15802693,"G","T","chr16_15802693_15802693_G_T","MYH11","nonsynonymous SNV","MYH11:NM_022844:exon41:c.C5792A:p.P1931H,MYH11:NM_001040113:exon42:c.C5813A:p.P1938H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","P",".","D",21.2,3.78,".",".",".","."]
["chr16",15808856,15808856,"T","C","chr16_15808856_15808856_T_C","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon40:c.A5696G:p.N1899S,MYH11:NM_022844:exon40:c.A5696G:p.N1899S,MYH11:NM_001040113:exon41:c.A5717G:p.N1906S,MYH11:NM_001040114:exon41:c.A5717G:p.N1906S",{"v":0.005764796310530361,"d":"0.0057648"},15,2602,0.0004,0.0051,".",0.000998403,0.005,".",".","rs79129097","T","B","B","D","D",10.06,4.64,".",".",".","."]
["chr16",15808938,15808938,"C","T","chr16_15808938_15808938_C_T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon40:c.G5614A:p.A1872T,MYH11:NM_022844:exon40:c.G5614A:p.A1872T,MYH11:NM_001040113:exon41:c.G5635A:p.A1879T,MYH11:NM_001040114:exon41:c.G5635A:p.A1879T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",22,4.64,".",".",".","."]
["chr16",15811040,15811040,"C","T","chr16_15811040_15811040_C_T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon38:c.G5461A:p.A1821T,MYH11:NM_022844:exon38:c.G5461A:p.A1821T,MYH11:NM_001040113:exon39:c.G5482A:p.A1828T,MYH11:NM_001040114:exon39:c.G5482A:p.A1828T",{"v":0.0015360983102918587,"d":"0.0015361"},4,2604,{"v":9.416e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs773689672","D","B","B","D","D",22.9,3.26,".",".",".","."]
["chr16",15811097,15811097,"G","A","chr16_15811097_15811097_G_A","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon38:c.C5404T:p.H1802Y,MYH11:NM_022844:exon38:c.C5404T:p.H1802Y,MYH11:NM_001040113:exon39:c.C5425T:p.H1809Y,MYH11:NM_001040114:exon39:c.C5425T:p.H1809Y",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,".",".",".",".",".",".",".",".","D","B","B","D","D",23.3,4.33,".",".",".","."]
["chr16",15813155,15813155,"G","A","chr16_15813155_15813155_G_A","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon36:c.C5093T:p.A1698V,MYH11:NM_022844:exon36:c.C5093T:p.A1698V,MYH11:NM_001040113:exon37:c.C5114T:p.A1705V,MYH11:NM_001040114:exon37:c.C5114T:p.A1705V",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":2.875e-05,"d":"2.88E-05"},0.0004,".",".",".","Uncertain significance","Thoracic_aortic_aneurysm_and_aortic_dissection","rs779639232","T","B","B","D","D",23.7,5.56,".",".",".","."]
["chr16",15814008,15814008,"C","G","chr16_15814008_15814008_C_G","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon34:c.G4953C:p.Q1651H,MYH11:NM_022844:exon34:c.G4953C:p.Q1651H,MYH11:NM_001040113:exon35:c.G4974C:p.Q1658H,MYH11:NM_001040114:exon35:c.G4974C:p.Q1658H",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":4.708e-05,"d":"4.71E-05"},0.0006,".",".",".",".",".","rs756832190","D","D","D","D","D",29.9,4.95,".",".",".","."]
["chr16",15814865,15814865,"A","G","chr16_15814865_15814865_A_G","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon33:c.T4622C:p.M1541T,MYH11:NM_022844:exon33:c.T4622C:p.M1541T,MYH11:NM_001040113:exon34:c.T4643C:p.M1548T,MYH11:NM_001040114:exon34:c.T4643C:p.M1548T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","D","D",23.4,4.97,".",".",".","."]
["chr16",15814883,15814883,"C","T","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",{"v":0.0007692307692307692,"d":"0.0007692"},2,2600,0.0022,0.0011,0.001616,0.00139776,0.002,"Uncertain significance","Thoracic_aortic_aneurysm_and_aortic_dissection","rs137934837","D","D","D","D","D",35,4.97,"CM122888","DM","Low","Aortic aneurysm:4604G>A"]
["chr16",15815328,15815328,"T","C","chr16_15815328_15815328_T_C","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon32:c.A4529G:p.K1510R,MYH11:NM_022844:exon32:c.A4529G:p.K1510R,MYH11:NM_001040113:exon33:c.A4550G:p.K1517R,MYH11:NM_001040114:exon33:c.A4550G:p.K1517R",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.416e-05,"d":"9.42E-05"},0.0004,".",0.000399361,".",".",".","rs199713089","T","B","B","D","D",9.016,4.84,".",".",".","."]
["chr16",15818064,15818064,"C","T","chr16_15818064_15818064_C_T","MYH11","nonsynonymous SNV","NDE1:NM_017668:exon9:c.C964T:p.R322C,NDE1:NM_001143979:exon10:c.C964T:p.R322C,MYH11:NM_002474:exon31:c.G4319A:p.R1440Q,MYH11:NM_022844:exon31:c.G4319A:p.R1440Q,MYH11:NM_001040113:exon32:c.G4340A:p.R1447Q,MYH11:NM_001040114:exon32:c.G4340A:p.R1447Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.416e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs763467593","D","D","D","D","D",35,5.17,".",".",".","."]
["chr16",15818526,15818526,"T","C","chr16_15818526_15818526_T_C","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon30:c.A4094G:p.H1365R,MYH11:NM_022844:exon30:c.A4094G:p.H1365R,MYH11:NM_001040113:exon31:c.A4115G:p.H1372R,MYH11:NM_001040114:exon31:c.A4115G:p.H1372R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",0.000154,".",".",".",".","rs138730904","D","B","B","D","D",24.7,5.27,".",".",".","."]
["chr16",15820851,15820851,"C","T","chr16_15820851_15820851_C_T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon28:c.G3712A:p.G1238R,MYH11:NM_022844:exon28:c.G3712A:p.G1238R,MYH11:NM_001040113:exon29:c.G3733A:p.G1245R,MYH11:NM_001040114:exon29:c.G3733A:p.G1245R",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0001,".",".",".",".",".","rs558332944","T","B","B","N","N",12.56,1.05,".",".",".","."]
["chr16",15820863,15820863,"C","T","chr16_15820863_15820863_C_T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon28:c.G3700A:p.A1234T,MYH11:NM_022844:exon28:c.G3700A:p.A1234T,MYH11:NM_001040113:exon29:c.G3721A:p.A1241T,MYH11:NM_001040114:exon29:c.G3721A:p.A1241T",{"v":0.3553338449731389,"d":"0.3553338"},926,2606,0.2457,0.3067,0.206788,0.203874,0.2728,"Benign","Thoracic_aortic_aneurysm_and_aortic_dissection","rs16967494","T","B","B","D","P",22.2,4.68,".",".",".","."]
["chr16",15826446,15826446,"G","A","chr16_15826446_15826446_G_A","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon27:c.C3626T:p.T1209I,MYH11:NM_022844:exon27:c.C3626T:p.T1209I,MYH11:NM_001040113:exon28:c.C3647T:p.T1216I,MYH11:NM_001040114:exon28:c.C3647T:p.T1216I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.415e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs777546897","D","B","B","D","D",24,5.07,".",".",".","."]
["chr16",15826542,15826542,"G","A","chr16_15826542_15826542_G_A","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon27:c.C3530T:p.T1177M,MYH11:NM_022844:exon27:c.C3530T:p.T1177M,MYH11:NM_001040113:exon28:c.C3551T:p.T1184M,MYH11:NM_001040114:exon28:c.C3551T:p.T1184M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.417e-06,"d":"9.42E-06"},0,".",".",".","Uncertain significance","Thoracic_aortic_aneurysm_and_aortic_dissection","rs201391947","D","D","D","D","D",26.1,4.94,".",".",".","."]
["chr16",15841445,15841445,"C","T","chr16_15841445_15841445_C_T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon19:c.G2393A:p.R798H,MYH11:NM_022844:exon19:c.G2393A:p.R798H,MYH11:NM_001040113:exon20:c.G2414A:p.R805H,MYH11:NM_001040114:exon20:c.G2414A:p.R805H",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.415e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs757602048","D","D","D","D","D",35,5.46,".",".",".","."]
["chr16",15841518,15841518,"C","T","chr16_15841518_15841518_C_T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon19:c.G2320A:p.V774I,MYH11:NM_022844:exon19:c.G2320A:p.V774I,MYH11:NM_001040113:exon20:c.G2341A:p.V781I,MYH11:NM_001040114:exon20:c.G2341A:p.V781I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0001,7.7e-05,".",".",".",".","rs147897132","D","D","D","D","D",33,5.46,".",".",".","."]
["chr16",15850232,15850232,"T","C","chr16_15850232_15850232_T_C","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon14:c.A1715G:p.K572R,MYH11:NM_022844:exon14:c.A1715G:p.K572R,MYH11:NM_001040113:exon15:c.A1736G:p.K579R,MYH11:NM_001040114:exon15:c.A1736G:p.K579R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance","Thoracic_aortic_aneurysm_and_aortic_dissection","rs794728678","T","B","B","D","D",23.9,5.38,".",".",".","."]
["chr16",15865545,15865545,"T","C","chr16_15865545_15865545_T_C","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon9:c.A914G:p.N305S,MYH11:NM_022844:exon9:c.A914G:p.N305S,MYH11:NM_001040113:exon10:c.A935G:p.N312S,MYH11:NM_001040114:exon10:c.A935G:p.N312S",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,0.0005,0.0065,".",0.00299521,0.0149,"Uncertain significance|Benign","Thoracic_aortic_aneurysm_and_aortic_dissection|Aortic_aneurysm,_familial_thoracic_4","rs185661462","T","B","B","N","D",0.002,-6.53,".",".",".","."]
["chr16",15872652,15872652,"C","A","chr16_15872652_15872652_C_A","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon7:c.G775T:p.A259S,MYH11:NM_022844:exon7:c.G775T:p.A259S,MYH11:NM_001040113:exon8:c.G796T:p.A266S,MYH11:NM_001040114:exon8:c.G796T:p.A266S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","P","D","D",25.1,4.92,".",".",".","."]
["chr16",15872687,15872687,"C","T","chr16_15872687_15872687_C_T","MYH11","nonsynonymous SNV","MYH11:NM_002474:exon7:c.G740A:p.R247H,MYH11:NM_022844:exon7:c.G740A:p.R247H,MYH11:NM_001040113:exon8:c.G761A:p.R254H,MYH11:NM_001040114:exon8:c.G761A:p.R254H",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.416e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs768521822","D","D","D","D","D",28.1,5.1,".",".",".","."]
["chr16",15880531,15880531,"C","T","chr16_15880531_15880531_C_T","MYH11","nonsynonymous SNV","MYH11:NM_001040113:exon5:c.G589A:p.V197M,MYH11:NM_001040114:exon5:c.G589A:p.V197M,MYH11:NM_002474:exon5:c.G589A:p.V197M,MYH11:NM_022844:exon5:c.G589A:p.V197M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","B","N","D",22.7,2.28,".",".",".","."]
["chr16",15917196,15917196,"C","T","chr16_15917196_15917196_C_T","MYH11","nonsynonymous SNV","MYH11:NM_001040113:exon3:c.G418A:p.D140N,MYH11:NM_001040114:exon3:c.G418A:p.D140N,MYH11:NM_002474:exon3:c.G418A:p.D140N,MYH11:NM_022844:exon3:c.G418A:p.D140N",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","N","D",27.9,5.58,".",".",".","."]
["chr16",15931905,15931905,"C","T","chr16_15931905_15931905_C_T","MYH11","nonsynonymous SNV","MYH11:NM_001040113:exon2:c.G205A:p.V69I,MYH11:NM_001040114:exon2:c.G205A:p.V69I,MYH11:NM_002474:exon2:c.G205A:p.V69I,MYH11:NM_022844:exon2:c.G205A:p.V69I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0004,".",".",".",".",".","rs371215641","T","B","B","N","D",16.73,2.53,".",".",".","."]
["chr17",7574012,7574012,"C","T","chr17_7574012_7574012_C_T","TP53","nonsynonymous SNV","TP53:NM_001126115:exon6:c.G619A:p.E207K,TP53:NM_001276697:exon6:c.G538A:p.E180K,TP53:NM_001126118:exon9:c.G898A:p.E300K,TP53:NM_000546:exon10:c.G1015A:p.E339K,TP53:NM_001126112:exon10:c.G1015A:p.E339K,TP53:NM_001276760:exon10:c.G898A:p.E300K,TP53:NM_001276761:exon10:c.G898A:p.E300K",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":7.726e-05,"d":"7.73E-05"},0.0006,".",".",".","Uncertain significance,other|Uncertain significance","Hereditary_cancer-predisposing_syndrome,Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome","rs17882252","D","B","B","N","D",23.3,4.44,".",".",".","."]
["chr17",7579470,7579470,"C","T","chr17_7579470_7579470_C_T","TP53","nonsynonymous SNV","TP53:NM_001126118:exon3:c.G100A:p.V34M,TP53:NM_000546:exon4:c.G217A:p.V73M,TP53:NM_001126112:exon4:c.G217A:p.V73M,TP53:NM_001126113:exon4:c.G217A:p.V73M,TP53:NM_001126114:exon4:c.G217A:p.V73M,TP53:NM_001276695:exon4:c.G100A:p.V34M,TP53:NM_001276696:exon4:c.G100A:p.V34M,TP53:NM_001276760:exon4:c.G100A:p.V34M,TP53:NM_001276761:exon4:c.G100A:p.V34M",{"v":0.0003875968992248062,"d":"0.0003876"},1,2580,{"v":5.679e-05,"d":"5.68E-05"},0,".",".",".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs587782423","T","B","B","N","N",0.374,-4.11,".",".",".","."]
["chr17",7579472,7579472,"G","C","chr17_7579472_7579472_G_C","TP53","nonsynonymous SNV","TP53:NM_001126118:exon3:c.C98G:p.P33R,TP53:NM_000546:exon4:c.C215G:p.P72R,TP53:NM_001126112:exon4:c.C215G:p.P72R,TP53:NM_001126113:exon4:c.C215G:p.P72R,TP53:NM_001126114:exon4:c.C215G:p.P72R,TP53:NM_001276695:exon4:c.C98G:p.P33R,TP53:NM_001276696:exon4:c.C98G:p.P33R,TP53:NM_001276760:exon4:c.C98G:p.P33R,TP53:NM_001276761:exon4:c.C98G:p.P33R",{"v":0.6483771251931993,"d":"0.6483771"},1678,2588,0.655,0.5938,0.630037,0.542931,0.5863,"Benign,Benign|Benign|Benign|Benign|Uncertain significance,Uncertain significance","not_specified,CODON_72_POLYMORPHISM,_(rs1042522)|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome_1,Hereditary_cancer-predisposing_syndrome","rs1042522","T","P","B","U","P",0.355,1.87,".",".",".","."]
["chr17",7579705,7579705,"C","T","chr17_7579705_7579705_C_T","TP53","nonsynonymous SNV","TP53:NM_000546:exon3:c.G91A:p.V31I,TP53:NM_001126112:exon3:c.G91A:p.V31I,TP53:NM_001126113:exon3:c.G91A:p.V31I,TP53:NM_001126114:exon3:c.G91A:p.V31I",{"v":0.010471204188481676,"d":"0.0104712"},4,382,0.0003,0.0036,".",0.00179712,0.0089,"Uncertain significance|not provided|Likely benign","Hereditary_cancer-predisposing_syndrome|not_specified|Li-Fraumeni_syndrome","rs201753350","T","B","B","N","N",9.161,-4.85,"CM074603","DM","High","Gastric cancer:91G>A"]
["chr17",7579882,7579882,"C","G","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",{"v":0.003110419906687403,"d":"0.0031104"},8,2572,{"v":3.803e-05,"d":"3.80E-05"},0.0005,".",0.000199681,0.001,"Uncertain significance|Uncertain significance","not_provided|Hereditary_cancer-predisposing_syndrome","rs201382018","D","D","D","N","N",24,5.36,"CM1211045","DM","Low","Myelodysplastic/myeloproliferative disease:31G>C"]
["chr17",41201164,41201164,"C","T","chr17_41201164_41201164_C_T","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon20:c.G5239A:p.E1747K,BRCA1:NM_007298:exon20:c.G2068A:p.E690K,BRCA1:NM_007294:exon21:c.G5380A:p.E1794K,BRCA1:NM_007300:exon22:c.G5443A:p.E1815K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.428e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs776323117","T","P","B","N","D",24.4,4.39,".",".",".","."]
["chr17",41203106,41203106,"T","C","chr17_41203106_41203106_T_C","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon19:c.A5165G:p.Y1722C,BRCA1:NM_007298:exon19:c.A1994G:p.Y665C,BRCA1:NM_007294:exon20:c.A5306G:p.Y1769C,BRCA1:NM_007299:exon20:c.A1994G:p.Y665C,BRCA1:NM_007300:exon21:c.A5369G:p.Y1790C",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":8.495e-05,"d":"8.50E-05"},0,".",".",".","not provided|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome","rs397509257","T","B","B","N","D",16.57,2.86,".",".",".","."]
["chr17",41222946,41222946,"A","G","chr17_41222946_41222946_A_G","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon14:c.T4844C:p.F1615S,BRCA1:NM_007298:exon14:c.T1673C:p.F558S,BRCA1:NM_007294:exon15:c.T4985C:p.F1662S,BRCA1:NM_007299:exon15:c.T1673C:p.F558S,BRCA1:NM_007300:exon16:c.T5048C:p.F1683S",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.416e-06,"d":"9.42E-06"},0.0001,".",".",".","not provided|Benign|Benign","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome","rs28897695","T","D","P","N","N",6.961,-1.61,".",".",".","."]
["chr17",41223048,41223048,"A","G","chr17_41223048_41223048_A_G","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon14:c.T4742C:p.M1581T,BRCA1:NM_007298:exon14:c.T1571C:p.M524T,BRCA1:NM_007294:exon15:c.T4883C:p.M1628T,BRCA1:NM_007299:exon15:c.T1571C:p.M524T,BRCA1:NM_007300:exon16:c.T4946C:p.M1649T",{"v":0.013814274750575594,"d":"0.0138143"},36,2606,0.0016,0.0066,0.000308,0.00259585,0.0119,"Likely benign|Benign|Benign|Likely benign|Likely benign|Benign|Benign","not_provided|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|Breast_cancer|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome","rs4986854","T","B","B","N","N",0.023,-2.25,"CM065000","DM","Low","Breast cancer:4883T>C"]
["chr17",41223094,41223094,"T","C","chr17_41223094_41223094_T_C","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon14:c.A4696G:p.S1566G,BRCA1:NM_007298:exon14:c.A1525G:p.S509G,BRCA1:NM_007294:exon15:c.A4837G:p.S1613G,BRCA1:NM_007299:exon15:c.A1525G:p.S509G,BRCA1:NM_007300:exon16:c.A4900G:p.S1634G",{"v":0.2893323100537222,"d":"0.2893323"},754,2606,0.3534,0.3769,0.29817,0.355831,0.372,"other|Likely benign|Likely benign|Likely benign,Benign|Benign|Benign|Benign|Benign|Benign","Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome,not_provided|Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_breast_and_ovarian_cancer_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome","rs1799966","T","P","B","N","P",0.547,1.5,".",".",".","."]
["chr17",41223202,41223202,"A","G","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",{"v":0.002688172043010753,"d":"0.0026882"},7,2604,{"v":9.441e-06,"d":"9.44E-06"},0,".",".",".","Likely benign|other|Likely benign","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome","rs80356909","T","D","D","N","N",11.33,2.31,"CM064999","DM","Low","Breast cancer:4729T>C"]
["chr17",41234492,41234492,"T","C","chr17_41234492_41234492_T_C","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon11:c.A4145G:p.Y1382C,BRCA1:NM_007298:exon11:c.A977G:p.Y326C,BRCA1:NM_007294:exon12:c.A4286G:p.Y1429C,BRCA1:NM_007299:exon12:c.A977G:p.Y326C,BRCA1:NM_007300:exon12:c.A4286G:p.Y1429C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","P","N","N",8.157,3.46,".",".",".","."]
["chr17",41243763,41243763,"G","A","chr17_41243763_41243763_G_A","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.C3644T:p.S1215L,BRCA1:NM_007294:exon10:c.C3785T:p.S1262L,BRCA1:NM_007300:exon10:c.C3785T:p.S1262L",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".","not provided|Uncertain significance,not provided|Pathogenic","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1","rs80357269","T","P","B","N","N",11.85,1.96,".",".",".","."]
["chr17",41243809,41243809,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.592e-05,"d":"6.59E-05"},0.0008,7.7e-05,0.000599042,0.003,"Likely benign|Benign|Benign|Likely benign","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs80357191","T","B","B","N","N",0.216,-2.04,"CM1411277","DM","High","Breast cancer:3739G>A"]
["chr17",41244000,41244000,"T","C","chr17_41244000_41244000_T_C","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.A3407G:p.K1136R,BRCA1:NM_007294:exon10:c.A3548G:p.K1183R,BRCA1:NM_007300:exon10:c.A3548G:p.K1183R",{"v":0.2889485801995395,"d":"0.2889486"},753,2606,0.353,0.3793,0.295248,0.352636,0.371,"Benign|Benign|Benign|Benign|Benign|Benign","not_provided|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast","rs16942","T","B","B","N","P",0.001,-2.35,".",".",".","."]
["chr17",41244044,41244044,"A","C","chr17_41244044_41244044_A_C","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.T3363G:p.N1121K,BRCA1:NM_007294:exon10:c.T3504G:p.N1168K,BRCA1:NM_007300:exon10:c.T3504G:p.N1168K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",12.14,3.04,".",".",".","."]
["chr17",41244100,41244100,"G","A","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",{"v":0.002697841726618705,"d":"0.0026978"},6,2224,{"v":8.482e-05,"d":"8.48E-05"},0.0011,".",0.000798722,0.004,"not provided|Uncertain significance|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified","rs80357272","D","D","D","D","D",26,5.31,"CM041694","DM","High","Breast cancer:3448C>T"]
["chr17",41244257,41244257,"A","C","chr17_41244257_41244257_A_C","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.T3150G:p.S1050R,BRCA1:NM_007294:exon10:c.T3291G:p.S1097R,BRCA1:NM_007300:exon10:c.T3291G:p.S1097R",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","N",21.8,1.47,".",".",".","."]
["chr17",41244435,41244435,"T","C","chr17_41244435_41244435_T_C","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.A2972G:p.E991G,BRCA1:NM_007294:exon10:c.A3113G:p.E1038G,BRCA1:NM_007300:exon10:c.A3113G:p.E1038G",{"v":0.2887864823348694,"d":"0.2887865"},752,2604,0.3468,0.374,0.279025,0.335663,0.371,"Benign|Benign|Benign|Benign|Benign","not_provided|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome","rs16941","D","P","P","N","P",22.2,-0.974,".",".",".","."]
["chr17",41244648,41244648,"G","A","chr17_41244648_41244648_G_A","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.C2759T:p.T920I,BRCA1:NM_007294:exon10:c.C2900T:p.T967I,BRCA1:NM_007300:exon10:c.C2900T:p.T967I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.006,-1.05,".",".",".","."]
["chr17",41244936,41244936,"G","A","chr17_41244936_41244936_G_A","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.C2471T:p.P824L,BRCA1:NM_007294:exon10:c.C2612T:p.P871L,BRCA1:NM_007300:exon10:c.C2612T:p.P871L",{"v":0.289568345323741,"d":"0.2895683"},644,2224,0.4143,0.3742,0.493157,0.54393,0.371,"Benign|Benign|Benign|Benign|Benign,Likely benign,not provided|Uncertain significance","not_provided|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome,Breast-ovarian_cancer,_familial_1,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1","rs799917","T","B","B","N","P",14.03,5.04,".",".",".","."]
["chr17",41244982,41244982,"A","G","chr17_41244982_41244982_A_G","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.T2425C:p.Y809H,BRCA1:NM_007294:exon10:c.T2566C:p.Y856H,BRCA1:NM_007300:exon10:c.T2566C:p.Y856H",{"v":0.02473021582733813,"d":"0.0247302"},55,2224,0.0016,0.0215,7.7e-05,0.00299521,0.0139,"Benign|Benign|Benign|Likely benign|Benign","Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|Breast_cancer|Hereditary_cancer-predisposing_syndrome","rs80356892","D","D","D","N","D",23,4.05,"CM042673","DM","Low","Breast cancer:2566T>C"]
["chr17",41245021,41245021,"T","C","chr17_41245021_41245021_T_C","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.A2386G:p.T796A,BRCA1:NM_007294:exon10:c.A2527G:p.T843A,BRCA1:NM_007300:exon10:c.A2527G:p.T843A",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".","not provided|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1","rs80357435","T","B","B","N","N",0.004,0.542,".",".",".","."]
["chr17",41245262,41245262,"T","A","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",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,0.0001,0.0015,".",0.000199681,".","Uncertain significance|Uncertain significance|Uncertain significance","Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome","rs273898682","D","D","D","N","N",23.9,2.11,"CM147771","DM","High","Breast cancer:2286A>T"]
["chr17",41245280,41245280,"C","G","chr17_41245280_41245280_C_G","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.G2127C:p.R709S,BRCA1:NM_007294:exon10:c.G2268C:p.R756S,BRCA1:NM_007300:exon10:c.G2268C:p.R756S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Likely benign|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome","rs80356884","T","B","B","N","N",3.607,0.56,".",".",".","."]
["chr17",41245683,41245683,"G","A","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",{"v":0.00045004500450045,"d":"0.0004500"},1,2222,{"v":2.83e-05,"d":"2.83E-05"},0.0001,7.7e-05,".",".","Likely benign|Benign|Uncertain significance|Benign|Uncertain significance","Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|Breast_cancer|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs56039126","T","P","B","N","N",21.1,1.5,"CM076031","DM","High","Breast cancer:1865C>T"]
["chr17",41246191,41246191,"C","G","chr17_41246191_41246191_C_G","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.G1216C:p.E406Q,BRCA1:NM_007294:exon10:c.G1357C:p.E453Q,BRCA1:NM_007300:exon10:c.G1357C:p.E453Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs768054411","D","D","D","N","N",16.79,0.298,".",".",".","."]
["chr17",41246226,41246226,"A","G","chr17_41246226_41246226_A_G","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.T1181C:p.I394T,BRCA1:NM_007294:exon10:c.T1322C:p.I441T,BRCA1:NM_007300:exon10:c.T1322C:p.I441T",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","T","P","B","N","N",0.016,0.312,".",".",".","."]
["chr17",41246296,41246296,"C","T","chr17_41246296_41246296_C_T","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.G1111A:p.E371K,BRCA1:NM_007294:exon10:c.G1252A:p.E418K,BRCA1:NM_007300:exon10:c.G1252A:p.E418K",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","T","P","P","N","N",5.698,-0.511,".",".",".","."]
["chr17",41246441,41246441,"A","T","chr17_41246441_41246441_A_T","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.T966A:p.D322E,BRCA1:NM_007294:exon10:c.T1107A:p.D369E,BRCA1:NM_007300:exon10:c.T1107A:p.D369E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","P","N","N",8.378,-1.7,".",".",".","."]
["chr17",41246624,41246625,"GC","-","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",{"v":0.0024752475247524753,"d":"0.0024752"},1,404,".",".",".",".",".",".",".",".",".",".",".",".",".",32,3.99,".",".",".",2]
["chr17",41246626,41246626,"T","A","chr17_41246626_41246626_T_A","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon9:c.A781T:p.S261C,BRCA1:NM_007294:exon10:c.A922T:p.S308C,BRCA1:NM_007300:exon10:c.A922T:p.S308C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","D","D",25.7,4.95,".",".",".","."]
["chr17",41246724,41246724,"C","T","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",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,0.0001,0.0015,".",".",".","Uncertain significance|not provided|Uncertain significance|Uncertain significance","Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs397509327","D","D","D","N","D",24.3,2.95,"CM033754","DM","High","Breast cancer:824G>A"]
["chr17",41246737,41246737,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0001,0.0015,".",0.000199681,0.001,"Uncertain significance,not provided|Uncertain significance|Uncertain significance,Likely benign|Uncertain significance|Likely benign|Likely benign","Hereditary_cancer-predisposing_syndrome,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|not_specified,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome","rs80357244","T","P","P","N","D",24.2,3.98,"CM065011","DM","High","Breast cancer:811G>A"]
["chr17",41249283,41249283,"C","T","chr17_41249283_41249283_C_T","BRCA1","nonsynonymous SNV","BRCA1:NM_007297:exon7:c.G430A:p.V144I,BRCA1:NM_007298:exon7:c.G571A:p.V191I,BRCA1:NM_007294:exon8:c.G571A:p.V191I,BRCA1:NM_007299:exon8:c.G571A:p.V191I,BRCA1:NM_007300:exon8:c.G571A:p.V191I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0003,0.0028,0.000308,0.00219649,0.0109,"Benign|Benign|Benign|Benign","Breast-ovarian_cancer,_familial_1|Hereditary_breast_and_ovarian_cancer_syndrome|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome","rs80357090","T","P","B","N","N",11.17,1.8,"CM077915","DM","Low","Breast and/or ovarian cancer:571G>A"]
["chr17",41258531,41258531,"G","A","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",{"v":0.00422102839600921,"d":"0.0042210"},11,2606,0.0001,0.0018,".",".",".","Uncertain significance|not provided|Uncertain significance,Likely benign|Likely benign","Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome,Breast-ovarian_cancer,_familial_1|Hereditary_breast_and_ovarian_cancer_syndrome","rs80357084","D","D","D","D","D",28.3,4.64,"CM065009","DM","Low","Breast cancer:154C>T"]
["chr18",28648099,28648099,"C","T","chr18_28648099_28648099_C_T","DSC2","nonsynonymous SNV","DSC2:NM_024422:exon16:c.G2588A:p.G863E",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.422e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs778423904","D","D","D","N","D",25.7,5.87,".",".",".","."]
["chr18",28648871,28648871,"G","A","chr18_28648871_28648871_G_A","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon15:c.C2497T:p.R833C,DSC2:NM_024422:exon15:c.C2497T:p.R833C",{"v":0.0009099181073703367,"d":"0.0009099"},2,2198,0.0004,0.0045,".",0.00199681,0.0099,"Uncertain significance|Uncertain significance","Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy","rs142410803","D","D","D","N","D",35,5.46,".",".",".","."]
["chr18",28648975,28648975,"C","T","chr18_28648975_28648975_C_T","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon15:c.G2393A:p.R798Q,DSC2:NM_024422:exon15:c.G2393A:p.R798Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0505,0.0006,0.034215,0.0275559,0.002,"Uncertain significance,Benign|Benign","not_specified,Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified","rs61731921","T","B","B",".","N",5.922,-5.21,".",".",".","."]
["chr18",28648998,28649000,"TCC","-","chr18_28648998_28649000_TCC_-","DSC2","nonframeshift deletion","DSC2:NM_004949:exon15:c.2368_2370del:p.790_790del,DSC2:NM_024422:exon15:c.2368_2370del:p.790_790del",{"v":0.018035303146584806,"d":"0.0180353"},47,2606,0.0014,0.0173,".",0.00439297,0.0218,"Likely pathogenic","Arrhythmogenic_right_ventricular_cardiomyopathy","rs377272752",".",".",".",".",".",12.91,3.93,"CD102853","DM","High","Arrhythmogenic right ventricular dysplasia/cardiomyopathy:2368_2370delGGA"]
["chr18",28649042,28649042,"T","C","chr18_28649042_28649042_T_C","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon15:c.A2326G:p.I776V,DSC2:NM_024422:exon15:c.A2326G:p.I776V",{"v":0.0844205679201842,"d":"0.0844206"},220,2606,0.1193,0.0987,0.191219,0.196486,0.0784,"Benign","not_specified","rs1893963","T","B","B","N","P",0.002,3.69,"CM150230","DM","Low","Arrhythmogenic right ventricular cardiomyopathy:2326A>G"]
["chr18",28650708,28650708,"G","-","chr18_28650708_28650708_G_-","DSC2","frameshift deletion","DSC2:NM_004949:exon14:c.2234delC:p.P745fs,DSC2:NM_024422:exon14:c.2234delC:p.P745fs",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",35,5.2,".",".",".","."]
["chr18",28654865,28654865,"T","C","chr18_28654865_28654865_T_C","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon12:c.A1672G:p.T558A,DSC2:NM_024422:exon12:c.A1672G:p.T558A",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,".",".",".",".",".",".",".",".","D","B","B","N","D",7.407,-10.6,".",".",".","."]
["chr18",28659856,28659856,"G","C","chr18_28659856_28659856_G_C","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon11:c.C1620G:p.I540M,DSC2:NM_024422:exon11:c.C1620G:p.I540M",{"v":0.001918649270913277,"d":"0.0019186"},5,2606,{"v":9.419e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs765374888","T","B","B","N","N",18.43,2.74,".",".",".","."]
["chr18",28659875,28659875,"T","A","chr18_28659875_28659875_T_A","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon11:c.A1601T:p.D534V,DSC2:NM_024422:exon11:c.A1601T:p.D534V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","D",32,5.68,".",".",".","."]
["chr18",28659917,28659917,"A","G","chr18_28659917_28659917_A_G","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon11:c.T1559C:p.I520T,DSC2:NM_024422:exon11:c.T1559C:p.I520T",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,0.0002,0.0001,".",0.000199681,".","Likely benign","Primary_dilated_cardiomyopathy","rs561310777","D","P","P","N","N",23.6,5.68,".",".",".","."]
["chr18",28669513,28669513,"T","C","chr18_28669513_28669513_T_C","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon5:c.A519G:p.I173M,DSC2:NM_024422:exon5:c.A519G:p.I173M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","N","D",23.2,-8.19,".",".",".","."]
["chr18",28671068,28671068,"C","T","chr18_28671068_28671068_C_T","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon4:c.G397A:p.A133T,DSC2:NM_024422:exon4:c.G397A:p.A133T",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":7.605e-05,"d":"7.61E-05"},0.0003,".",0.000599042,".",".",".","rs200218585","T","B","B","N","N",7.243,-0.722,".",".",".","."]
["chr18",28681915,28681915,"G","A","chr18_28681915_28681915_G_A","DSC2","nonsynonymous SNV","DSC2:NM_004949:exon1:c.C20T:p.S7F,DSC2:NM_024422:exon1:c.C20T:p.S7F",{"v":0.0004528985507246377,"d":"0.0004529"},1,2208,".",".",".",".",".",".",".",".","D","P","B",".","N",11.27,1.69,".",".",".","."]
["chr18",29099850,29099850,"G","A","chr18_29099850_29099850_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon3:c.G166A:p.V56M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0018,0.0001,0.002588,0.000199681,".","Pathogenic|other|Likely benign|other|Uncertain significance|Uncertain significance|Uncertain significance","Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dilated_cardiomyopathy_1BB|not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiomyopathy","rs121913013","D","D","P","U","A",27,5.21,"CM070918","DM","Low","Cardiomyopathy  arrhythmogenic right ventricular:166G>A"]
["chr18",29100905,29100905,"G","A","chr18_29100905_29100905_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon4:c.G356A:p.R119Q",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":1.925e-05,"d":"1.93E-05"},0.0001,".",0.000199681,0.001,".",".","rs532305326","D","D","D","U","D",35,5.95,".",".",".","."]
["chr18",29101072,29101072,"A","G","chr18_29101072_29101072_A_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon5:c.A389G:p.Y130C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","U","D",24.6,4.49,".",".",".","."]
["chr18",29102115,29102115,"A","G","chr18_29102115_29102115_A_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon6:c.A593G:p.Y198C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","Uncertain significance","not_specified","rs786204291","D","D","D","N","D",25.1,2.99,"CM1312993","DM","High","Cardiomyopathy  arrhythmogenic right ventricular:593A>G"]
["chr18",29104426,29104426,"A","G","chr18_29104426_29104426_A_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon7:c.A706G:p.T236A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":5.693e-05,"d":"5.69E-05"},0.0008,".",".",".","Uncertain significance","not_specified","rs727502985","T","B","B","N","N",8.57,-4.15,".",".",".","."]
["chr18",29104714,29104714,"A","G","chr18_29104714_29104714_A_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon8:c.A877G:p.I293V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.068,0.0003,0.0636,0.0323482,0.001,"Benign,other","not_specified,Cardiomyopathy","rs2230234","D","D","P","D","P",23.6,5.35,"CM1312995","DM","Low","Cardiomyopathy  arrhythmogenic right ventricular:877A>G"]
["chr18",29116222,29116222,"A","C","chr18_29116222_29116222_A_C","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon11:c.A1481C:p.D494A",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":3.791e-05,"d":"3.79E-05"},0.0005,".",0.000399361,0.002,"Likely pathogenic","Cardiomyopathy","rs193298428","D","D","D","D","D",23.5,5.89,"CM132705","DM","Low","Arrhythmogenic right ventricular dysplasia/cardiomyopathy:1481A>C"]
["chr18",29116252,29116252,"A","C","chr18_29116252_29116252_A_C","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon11:c.A1511C:p.Q504P",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","D","D","P","N","N",13.77,0.863,".",".",".","."]
["chr18",29116266,29116266,"G","A","chr18_29116266_29116266_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon11:c.G1525A:p.D509N",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":5.685e-05,"d":"5.69E-05"},0.0005,".",".",".",".",".","rs753406968","T","B","B","N","N",8.985,3.1,".",".",".","."]
["chr18",29116303,29116303,"A","G","chr18_29116303_29116303_A_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon11:c.A1562G:p.D521G",{"v":0.0034535686876438986,"d":"0.0034536"},9,2606,{"v":2.842e-05,"d":"2.84E-05"},0.0003,".",".",".","Uncertain significance","Arrhythmogenic_right_ventricular_cardiomyopathy","rs730880077","D","D","D","D","D",27.3,5.89,".",".",".","."]
["chr18",29116333,29116333,"T","G","chr18_29116333_29116333_T_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon11:c.T1592G:p.F531C",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":7.587e-05,"d":"7.59E-05"},0.001,".",".",".","Uncertain significance|Likely pathogenic|Likely pathogenic","not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dysplasia,_arrhythmogenic_right_ventricular","rs200484060","D","D","D","D","D",25.7,5.89,"CM085967","DM","High","Dysplasia  arrhythmogenic right ventricular:1592T>G"]
["chr18",29116338,29116338,"G","A","chr18_29116338_29116338_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon11:c.G1597A:p.V533I",{"v":0.008058326937835763,"d":"0.0080583"},21,2606,0.0003,0.0032,8.3e-05,0.000199681,0.001,".",".","rs199761749","T","B","B","N","N",0.016,-2.89,".",".",".","."]
["chr18",29118750,29118750,"T","G","chr18_29118750_29118750_T_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon12:c.T1688G:p.L563R",{"v":0.002686108979278588,"d":"0.0026861"},7,2606,{"v":6.634e-05,"d":"6.63E-05"},0.0009,".",".",".",".",".","rs780469370","T","B","B","N","N",5.86,-0.655,".",".",".","."]
["chr18",29118846,29118846,"A","G","chr18_29118846_29118846_A_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon12:c.A1784G:p.H595R",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.472e-06,"d":"9.47E-06"},0.0001,7.9e-05,".",".",".",".","rs371326860","T","B","B","N","N",6.93,3.55,".",".",".","."]
["chr18",29118847,29118847,"T","G","chr18_29118847_29118847_T_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon12:c.T1785G:p.H595Q",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".",".","T","B","B","N","N",0.271,-11.2,".",".",".","."]
["chr18",29118854,29118854,"G","A","chr18_29118854_29118854_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon12:c.G1792A:p.G598S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.789e-05,"d":"3.79E-05"},0.0003,".",".",".",".",".","rs773666300","T","P","B","N","D",22.2,4.15,".",".",".","."]
["chr18",29118891,29118891,"T","C","chr18_29118891_29118891_T_C","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon12:c.T1829C:p.L610P",{"v":0.0007716049382716049,"d":"0.0007716"},2,2592,{"v":9.472e-06,"d":"9.47E-06"},0.0001,".",".",".",".",".","rs755196345","D","D","D","D","D",29.4,5.92,".",".",".","."]
["chr18",29122723,29122723,"G","A","chr18_29122723_29122723_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon14:c.G2242A:p.A748T",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":3.795e-05,"d":"3.80E-05"},0.0003,".",".",".",".",".","rs763994831","T","B","B","N","N",0.988,-2.61,".",".",".","."]
["chr18",29122799,29122799,"G","A","chr18_29122799_29122799_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon14:c.G2318A:p.R773K",{"v":0.5003894080996885,"d":"0.5003894"},1285,2568,0.2692,0.4769,0.197289,0.240016,0.4643,"Benign","not_specified","rs2278792","T","B","B","N","P",17.19,2.2,".",".",".","."]
["chr18",29125819,29125819,"C","T","chr18_29125819_29125819_C_T","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon15:c.C2470T:p.R824C",{"v":0.0030698388334612432,"d":"0.0030698"},8,2606,0.0002,0.002,".",0.000199681,0.001,".",".","rs201845396","D","B","B","N","N",22.6,-1.77,"CM1312997","DM","High","Cardiomyopathy  arrhythmogenic right ventricular:2470C>T"]
["chr18",29126030,29126030,"T","G","chr18_29126030_29126030_T_G","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon15:c.T2681G:p.L894W",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.9e-05,"d":"1.90E-05"},0.0003,".",".",".",".",".","rs759746836","D","D","P","N","N",23.9,1.54,".",".",".","."]
["chr18",29126063,29126063,"-","AAT","chr18_29126063_29126063_-_AAT","DSG2","nonframeshift insertion","DSG2:NM_001943:exon15:c.2714_2715insAAT:p.E905delinsEI",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",14.24,5.2,".",".",".","."]
["chr18",29126129,29126129,"C","T","chr18_29126129_29126129_C_T","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon15:c.C2780T:p.P927L",{"v":0.014965464313123561,"d":"0.0149655"},39,2606,0.0003,0.0034,".",0.000399361,0.002,"Uncertain significance","Cardiomyopathy","rs146402368","D","D","P","N","D",23.8,4.34,".",".",".","."]
["chr18",29126293,29126293,"G","A","chr18_29126293_29126293_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon15:c.G2944A:p.E982K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.735e-06,"d":"9.74E-06"},0,".",".",".",".",".","rs781744343","T","P","B","N","N",22.6,4.23,".",".",".","."]
["chr18",29126467,29126467,"G","A","chr18_29126467_29126467_G_A","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon15:c.G3118A:p.V1040I",{"v":0.0013623978201634877,"d":"0.0013624"},3,2202,{"v":6.63e-05,"d":"6.63E-05"},0.0009,".",0.000199681,0.001,"Likely benign","Cardiomyopathy","rs201966605","T","B","B","N","N",9.253,1.17,".",".",".","."]
["chr18",29126558,29126558,"C","T","chr18_29126558_29126558_C_T","DSG2","nonsynonymous SNV","DSG2:NM_001943:exon15:c.C3209T:p.T1070M",{"v":0.013039568345323741,"d":"0.0130396"},29,2224,0.0013,0.0048,0.000498,0.00399361,0.0079,"Likely benign|Likely benign","not_specified|not_provided","rs149617776","T","B","B","N","N",3.179,-9.34,"CM1511406","DM","Low","Brugada syndrome:3209C>T"]
["chr19",1206973,1206973,"G","A","chr19_1206973_1206973_G_A","STK11","nonsynonymous SNV","STK11:NM_000455:exon1:c.G61A:p.G21S",{"v":0.001288659793814433,"d":"0.0012887"},1,776,".",".",".",".",".",".",".",".","T","P","B","D","D",25.3,3.9,".",".",".","."]
["chr19",1207118,1207118,"C","T","chr19_1207118_1207118_C_T","STK11","nonsynonymous SNV","STK11:NM_000455:exon1:c.C206T:p.S69L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","D","D",23.2,2.86,".",".",".","."]
["chr19",1207141,1207141,"G","C","chr19_1207141_1207141_G_C","STK11","nonsynonymous SNV","STK11:NM_000455:exon1:c.G229C:p.V77L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","D","D",23.7,3.9,".",".",".","."]
["chr19",1220473,1220473,"C","T","chr19_1220473_1220473_C_T","STK11","nonsynonymous SNV","STK11:NM_000455:exon4:c.C566T:p.T189I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.263e-05,"d":"6.26E-05"},0,".",".",".","Uncertain significance|Uncertain significance","Hereditary_cancer-predisposing_syndrome|Peutz-Jeghers_syndrome","rs587781515","T","P","B","D","D",18.92,5.56,"CM144213","DM","High","Peutz-Jeghers syndrome:566C>T"]
["chr19",1221319,1221319,"C","T","chr19_1221319_1221319_C_T","STK11","nonsynonymous SNV","STK11:NM_000455:exon6:c.C842T:p.P281L",{"v":0.0061396776669224865,"d":"0.0061397"},16,2606,0.0001,0.0017,".",0.000798722,0.004,"Uncertain significance,Uncertain significance,other","Hereditary_cancer-predisposing_syndrome,Hereditary_cancer-predisposing_syndrome,Hereditary_cancer-predisposing_syndrome","rs121913322","T","B","B","D","D",23.3,4.22,".",".",".","."]
["chr19",1223099,1223104,"GGCGCG","-","chr19_1223099_1223104_GGCGCG_-","STK11","nonframeshift deletion","STK11:NM_000455:exon8:c.1036_1041del:p.346_347del",{"v":0.0005494505494505495,"d":"0.0005495"},1,1820,".",".",".",".",".",".",".",".",".",".",".",".",".",13.41,3.79,".",".",".","."]
["chr19",1223108,1223108,"G","A","chr19_1223108_1223108_G_A","STK11","nonsynonymous SNV","STK11:NM_000455:exon8:c.G1045A:p.E349K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.517e-05,"d":"3.52E-05"},0.0003,".",0.000199681,".","Uncertain significance","Hereditary_cancer-predisposing_syndrome","rs553752236","T","B","B","N","D",13.67,2.75,".",".",".","."]
["chr19",1223125,1223125,"C","G","chr19_1223125_1223125_C_G","STK11","nonsynonymous SNV","STK11:NM_000455:exon8:c.C1062G:p.F354L",{"v":0.043394777265745005,"d":"0.0433948"},113,2604,0.0055,0.0336,0.003822,0.0111821,0.0496,"other|Benign|not provided,Likely benign","Peutz-Jeghers_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified,Hereditary_cancer-predisposing_syndrome","rs59912467","T","B","B","N","A",0.838,-7.52,"CM041082","DM","Low","Peutz-Jeghers syndrome:1062C>G"]
["chr19",1226534,1226534,"C","T","chr19_1226534_1226534_C_T","STK11","nonsynonymous SNV","STK11:NM_000455:exon9:c.C1190T:p.A397V",{"v":0.0003885003885003885,"d":"0.0003885"},1,2574,0.0002,0.0006,".",0.000199681,0.001,"Uncertain significance|Uncertain significance","Hereditary_cancer-predisposing_syndrome|Peutz-Jeghers_syndrome","rs558040549","T","B","B","N","N",17.71,0.835,".",".",".","."]
["chr19",1226573,1226573,"C","T","chr19_1226573_1226573_C_T","STK11","nonsynonymous SNV","STK11:NM_000455:exon9:c.C1229T:p.A410V",{"v":0.00045004500450045,"d":"0.0004500"},1,2222,0.0001,0.0009,8.4e-05,0.000199681,0.001,"Uncertain significance|Uncertain significance","Hereditary_cancer-predisposing_syndrome|Peutz-Jeghers_syndrome","rs372329880","T","B","B","N","N",22,3.26,".",".",".","."]
["chr19",1226620,1226620,"C","T","chr19_1226620_1226620_C_T","STK11","nonsynonymous SNV","STK11:NM_000455:exon9:c.C1276T:p.R426W",{"v":0.0025,"d":"0.0025000"},1,400,0,0,".",".",".","Likely benign,Uncertain significance,Uncertain significance|Uncertain significance","Hereditary_cancer-predisposing_syndrome,Hereditary_cancer-predisposing_syndrome,Hereditary_cancer-predisposing_syndrome|Peutz-Jeghers_syndrome","rs587782687","D","D","P","D","D",35,2.96,"CM135268","DM","High","Gastrointestinal polyposis:1276C>T"]
["chr19",11213429,11213429,"G","A","chr19_11213429_11213429_G_A","LDLR","nonsynonymous SNV","LDLR:NM_000527:exon3:c.G280A:p.D94N,LDLR:NM_001195798:exon3:c.G280A:p.D94N,LDLR:NM_001195800:exon3:c.G280A:p.D94N,LDLR:NM_001195803:exon3:c.G280A:p.D94N",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.415e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs745776977","D","D","D","D","D",27.8,5.65,".",".",".","."]
["chr19",11213441,11213441,"G","A","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":6.591e-05,"d":"6.59E-05"},0.0008,".",".",".",".",".","rs750474121","T","D","D","N","D",23,3.51,"CM055378","DM","High","Hypercholesterolaemia:292G>A"]
["chr19",11215926,11215926,"G","A","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",{"v":0.0040467625899280575,"d":"0.0040468"},9,2224,0.0002,0.0023,7.7e-05,0.000199681,0.001,".",".","rs201102461","T","B","B","N","D",19.85,4.28,"CM002336","DM","High","Hypercholesterolaemia:344G>A"]
["chr19",11215977,11215977,"G","A","chr19_11215977_11215977_G_A","LDLR","nonsynonymous SNV","LDLR:NM_001195799:exon3:c.G272A:p.R91Q,LDLR:NM_000527:exon4:c.G395A:p.R132Q,LDLR:NM_001195798:exon4:c.G395A:p.R132Q",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,{"v":2.828e-05,"d":"2.83E-05"},0.0004,".",".",".",".",".","rs751519676","T","B","B","N","N",2.857,-9.97,".",".",".","."]
["chr19",11215987,11215987,"G","C","chr19_11215987_11215987_G_C","LDLR","nonsynonymous SNV","LDLR:NM_001195799:exon3:c.G282C:p.L94F,LDLR:NM_000527:exon4:c.G405C:p.L135F,LDLR:NM_001195798:exon4:c.G405C:p.L135F",{"v":0.00038550501156515033,"d":"0.0003855"},1,2594,".",".",".",".",".",".",".",".","D","P","P","N","D",17.93,-6.15,".",".",".","."]
["chr19",11216006,11216006,"T","A","chr19_11216006_11216006_T_A","LDLR","nonsynonymous SNV","LDLR:NM_001195799:exon3:c.T301A:p.S101T,LDLR:NM_000527:exon4:c.T424A:p.S142T,LDLR:NM_001195798:exon4:c.T424A:p.S142T",{"v":0.0003861003861003861,"d":"0.0003861"},1,2590,{"v":9.422e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs772376424","T","B","B","N","N",0.029,-10.3,".",".",".","."]
["chr19",11217315,11217315,"C","T","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":7.533e-05,"d":"7.53E-05"},0.0006,".",0.000798722,0.003,".",".","rs200990725","D","D","D","N","D",21.2,0.382,"CM012394","DM","High","Hypercholesterolaemia:769C>T"]
["chr19",11222192,11222192,"A","G","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",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",22.8,5.46,"CM000416","DM","High","Hypercholesterolaemia:1063A>G"]
["chr19",11224025,11224025,"A","G","chr19_11224025_11224025_A_G","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon7:c.A754G:p.T252A,LDLR:NM_001195799:exon8:c.A1135G:p.T379A,LDLR:NM_001195803:exon8:c.A877G:p.T293A,LDLR:NM_000527:exon9:c.A1258G:p.T420A,LDLR:NM_001195798:exon9:c.A1258G:p.T420A",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,".",".",".",".",".",".",".",".","T","B","B","N","D",10.03,1.47,".",".",".","."]
["chr19",11224368,11224368,"G","A","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",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.417e-05,"d":"9.42E-05"},0.0009,7.7e-05,".",".",".",".","rs373848925","T","P","P","N","N",1.036,-7.33,"CM151094","DM","High","Myocardial infarction:1516G>A"]
["chr19",11224398,11224398,"G","A","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",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":8.481e-05,"d":"8.48E-05"},0,0.000308,0.000199681,0.001,".",".","rs141673997","T","D","P","N","N",22.7,3.61,"CM128849","DM","Low","Hypercholesterolaemia:1546G>A"]
["chr19",11226798,11226798,"C","A","chr19_11226798_11226798_C_A","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon9:c.C1111A:p.P371T,LDLR:NM_001195799:exon10:c.C1492A:p.P498T,LDLR:NM_001195803:exon10:c.C1234A:p.P412T,LDLR:NM_000527:exon11:c.C1615A:p.P539T,LDLR:NM_001195798:exon11:c.C1615A:p.P539T",{"v":0.0003866976024748647,"d":"0.0003867"},1,2586,".",".",".",".",".",".",".",".","T","B","P","D","N",21,3.8,".",".",".","."]
["chr19",11227576,11227576,"C","T","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",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,0.0001,0.001,".",".",".","not provided,Pathogenic","not_provided,not_provided","rs730882109","D","D","D","D","D",25.7,5.48,"CM941046","DM","High","Hypercholesterolaemia:1747C>T"]
["chr19",11230804,11230804,"A","C","chr19_11230804_11230804_A_C","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon11:c.A1378C:p.I460L,LDLR:NM_001195799:exon12:c.A1759C:p.I587L,LDLR:NM_001195803:exon12:c.A1501C:p.I501L,LDLR:NM_000527:exon13:c.A1882C:p.I628L,LDLR:NM_001195798:exon13:c.A1882C:p.I628L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","P","D","N","D",25.9,5.37,".",".",".","."]
["chr19",11231084,11231084,"G","A","chr19_11231084_11231084_G_A","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon12:c.G1522A:p.G508S,LDLR:NM_001195799:exon13:c.G1903A:p.G635S,LDLR:NM_000527:exon14:c.G2026A:p.G676S,LDLR:NM_001195798:exon14:c.G2026A:p.G676S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.897e-05,"d":"1.90E-05"},0,".",".",".",".",".","rs745753810","D","D","D","D","D",27.5,5.3,"CM024122","DM","High","Hypercholesterolaemia:2026G>A"]
["chr19",11231130,11231130,"C","T","chr19_11231130_11231130_C_T","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon12:c.C1568T:p.S523L,LDLR:NM_001195799:exon13:c.C1949T:p.S650L,LDLR:NM_000527:exon14:c.C2072T:p.S691L,LDLR:NM_001195798:exon14:c.C2072T:p.S691L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":3.774e-05,"d":"3.77E-05"},0,7.7e-05,0.000599042,".",".",".","rs369943481","D","D","D","D","D",26.7,4.27,".",".",".","."]
["chr19",11241972,11241972,"C","G","chr19_11241972_11241972_C_G","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon16:c.C2059G:p.L687V,LDLR:NM_001195803:exon16:c.C2029G:p.L677V,LDLR:NM_001195799:exon17:c.C2440G:p.L814V,LDLR:NM_000527:exon18:c.C2563G:p.L855V,LDLR:NM_001195798:exon18:c.C2557G:p.L853V",{"v":0.0003861003861003861,"d":"0.0003861"},1,2590,{"v":9.415e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs775803775","T","P","P","N","D",18.67,1.22,".",".",".","."]
["chr19",11241978,11241978,"G","A","chr19_11241978_11241978_G_A","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon16:c.G2065A:p.D689N,LDLR:NM_001195803:exon16:c.G2035A:p.D679N,LDLR:NM_001195799:exon17:c.G2446A:p.D816N,LDLR:NM_000527:exon18:c.G2569A:p.D857N,LDLR:NM_001195798:exon18:c.G2563A:p.D855N",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","D","D","D","N","D",31,4.74,".",".",".","."]
["chr19",11241980,11241980,"T","A","chr19_11241980_11241980_T_A","LDLR","nonsynonymous SNV","LDLR:NM_001195800:exon16:c.T2067A:p.D689E,LDLR:NM_001195803:exon16:c.T2037A:p.D679E,LDLR:NM_001195799:exon17:c.T2448A:p.D816E,LDLR:NM_000527:exon18:c.T2571A:p.D857E,LDLR:NM_001195798:exon18:c.T2565A:p.D855E",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","D","P","N","N",11.57,-8.15,".",".",".","."]
["chr19",11241988,11241988,"C","T","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",{"v":0.001539645881447267,"d":"0.0015396"},4,2598,{"v":7.532e-05,"d":"7.53E-05"},0.0009,".",0.000798722,0.004,".",".","rs13306505","D","D","D","N","N",23.2,2.6,"CM091465","DM","High","Hypercholesterolaemia:2579C>T"]
["chr19",38933074,38933074,"C","T","chr19_38933074_38933074_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon3:c.C251T:p.T84M,RYR1:NM_001042723:exon3:c.C251T:p.T84M",{"v":0.0004508566275924256,"d":"0.0004509"},1,2218,{"v":6.609e-05,"d":"6.61E-05"},0.0005,".",0.000199681,0.001,".",".","rs186983396","D","D","D","U","D",26.6,3.66,".",".",".","."]
["chr19",38934811,38934811,"G","T","chr19_38934811_38934811_G_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon6:c.G447T:p.M149I,RYR1:NM_001042723:exon6:c.G447T:p.M149I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.422e-06,"d":"9.42E-06"},0.0001,".",".",".",".",".","rs772652844","T","B","B","U","N",0.141,-0.637,".",".",".","."]
["chr19",38937117,38937117,"G","A","chr19_38937117_38937117_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon8:c.G637A:p.V213M,RYR1:NM_001042723:exon8:c.G637A:p.V213M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.433e-06,"d":"9.43E-06"},0,".",".",".",".",".","rs745608515","D","D","D","U","D",24.5,3.99,".",".",".","."]
["chr19",38937201,38937201,"C","T","chr19_38937201_38937201_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon8:c.C721T:p.R241C,RYR1:NM_001042723:exon8:c.C721T:p.R241C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs751622747","D","D","D","U","D",35,4.85,".",".",".","."]
["chr19",38939015,38939015,"G","A","chr19_38939015_38939015_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon10:c.G821A:p.R274H,RYR1:NM_001042723:exon10:c.G821A:p.R274H",{"v":0.005066250974279034,"d":"0.0050663"},13,2566,0.0002,0.0027,".",".",".",".",".","rs368711923","T","D","D","U","N",23.9,3.59,".",".",".","."]
["chr19",38939066,38939066,"C","T","chr19_38939066_38939066_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon10:c.C872T:p.A291V,RYR1:NM_001042723:exon10:c.C872T:p.A291V",{"v":0.0007716049382716049,"d":"0.0007716"},2,2592,{"v":5.668e-05,"d":"5.67E-05"},0.0005,".",0.000199681,0.001,".",".","rs200572262","D","D","P","U","N",24,2.18,".",".",".","."]
["chr19",38939101,38939101,"G","A","chr19_38939101_38939101_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon10:c.G907A:p.A303T,RYR1:NM_001042723:exon10:c.G907A:p.A303T",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,{"v":2.831e-05,"d":"2.83E-05"},0,7.7e-05,".",".",".",".","rs141764906","D","D","D","U","D",26.3,4.51,".",".",".","."]
["chr19",38939102,38939102,"C","A","chr19_38939102_38939102_C_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon10:c.C908A:p.A303D,RYR1:NM_001042723:exon10:c.C908A:p.A303D",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,".",".",".",".",".",".",".",".","D","D","D","U","D",25.8,4.51,".",".",".","."]
["chr19",38939326,38939326,"G","A","chr19_38939326_38939326_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon11:c.G995A:p.G332D,RYR1:NM_001042723:exon11:c.G995A:p.G332D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","U","D",28.4,4.7,".",".",".","."]
["chr19",38939332,38939332,"G","T","chr19_38939332_38939332_G_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon11:c.G1001T:p.G334V,RYR1:NM_001042723:exon11:c.G1001T:p.G334V",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".","Uncertain significance","not_provided","rs587784371","D","D","D","U","D",27.5,3.67,".",".",".","."]
["chr19",38939422,38939422,"A","G","chr19_38939422_38939422_A_G","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon11:c.A1091G:p.K364R,RYR1:NM_001042723:exon11:c.A1091G:p.K364R",{"v":0.0007686395080707148,"d":"0.0007686"},2,2602,{"v":2.846e-05,"d":"2.85E-05"},0.0004,".",".",".",".",".","rs773211591","T","D","D","U","D",24.4,4.59,".",".",".","."]
["chr19",38942467,38942467,"G","T","chr19_38942467_38942467_G_T","RYR1","stopgain","RYR1:NM_000540:exon12:c.G1186T:p.E396X,RYR1:NM_001042723:exon12:c.G1186T:p.E396X",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":9.417e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs774919231",".",".",".","U","A",36,3.01,".",".",".","."]
["chr19",38942468,38942468,"A","C","chr19_38942468_38942468_A_C","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon12:c.A1187C:p.E396A,RYR1:NM_001042723:exon12:c.A1187C:p.E396A",{"v":0.001152073732718894,"d":"0.0011521"},3,2604,{"v":9.417e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs762454738","D","D","D","U","D",25.6,3.04,".",".",".","."]
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["chr19",38945956,38945956,"G","C","chr19_38945956_38945956_G_C","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon14:c.G1522C:p.E508Q,RYR1:NM_001042723:exon14:c.G1522C:p.E508Q",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","U","D",24.2,3.97,".",".",".","."]
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["chr19",38949863,38949863,"C","G","chr19_38949863_38949863_C_G","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon19:c.C2245G:p.L749V,RYR1:NM_001042723:exon19:c.C2245G:p.L749V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":4.71e-05,"d":"4.71E-05"},0.0006,".",0.000199681,".",".",".","rs571423946","D","D","D","U","D",26.2,4.36,".",".",".","."]
["chr19",38949905,38949905,"G","A","chr19_38949905_38949905_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon19:c.G2287A:p.V763M,RYR1:NM_001042723:exon19:c.G2287A:p.V763M",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.425e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs369947687","D","D","D","U","D",25.1,4.36,"CM151684","DM","High","Muscular dystrophy:2287G>A"]
["chr19",38955304,38955304,"G","A","chr19_38955304_38955304_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon23:c.G2812A:p.V938M,RYR1:NM_001042723:exon23:c.G2812A:p.V938M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,0.0002,0.0009,7.7e-05,".",".",".",".","rs369182023","D","D","D","U","D",32,4.03,".",".",".","."]
["chr19",38956817,38956817,"G","A","chr19_38956817_38956817_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon24:c.G2957A:p.R986H,RYR1:NM_001042723:exon24:c.G2957A:p.R986H",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".",".",".",".","T","D","D","U","N",26.7,3.8,".",".",".","."]
["chr19",38956907,38956907,"G","A","chr19_38956907_38956907_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon24:c.G3047A:p.R1016Q,RYR1:NM_001042723:exon24:c.G3047A:p.R1016Q",{"v":0.0003863987635239567,"d":"0.0003864"},1,2588,{"v":5.168e-05,"d":"5.17E-05"},0,7.7e-05,".",".",".",".","rs373541911","D","D","D","U","D",28.9,3.5,".",".",".","."]
["chr19",38959759,38959759,"C","T","chr19_38959759_38959759_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon26:c.C3535T:p.R1179W,RYR1:NM_001042723:exon26:c.C3535T:p.R1179W",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".","rs763944786","D","D","D","U","N",34,2.86,"CM123704","DM","High","Myopathy  congenital:3535C>T"]
["chr19",38964060,38964060,"G","A","chr19_38964060_38964060_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon28:c.G3809A:p.R1270H,RYR1:NM_001042723:exon28:c.G3809A:p.R1270H",{"v":0.0003872966692486445,"d":"0.0003873"},1,2582,".",".",".",".",".",".",".",".","D","D","D","U","D",28,4.03,".",".",".","."]
["chr19",38966014,38966014,"C","T","chr19_38966014_38966014_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon29:c.C4217T:p.T1406M,RYR1:NM_001042723:exon29:c.C4217T:p.T1406M",{"v":0.0007686395080707148,"d":"0.0007686"},2,2602,{"v":4.622e-05,"d":"4.62E-05"},0.0003,7.7e-05,0.000199681,0.001,".",".","rs187496208","D","D","P","U","N",23.2,4.09,".",".",".","."]
["chr19",38968395,38968395,"G","A","chr19_38968395_38968395_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon30:c.G4339A:p.V1447M,RYR1:NM_001042723:exon30:c.G4339A:p.V1447M",{"v":0.0011529592621060721,"d":"0.0011530"},3,2602,0.0002,0.0001,7.7e-05,".",".",".",".","rs370851779","D","D","D","U","D",27.6,5.41,".",".",".","."]
["chr19",38968431,38968431,"C","G","chr19_38968431_38968431_C_G","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon30:c.C4375G:p.H1459D,RYR1:NM_001042723:exon30:c.C4375G:p.H1459D",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","U","D",25.6,3.29,".",".",".","."]
["chr19",38976294,38976294,"C","T","chr19_38976294_38976294_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon34:c.C4999T:p.R1667C,RYR1:NM_001042723:exon34:c.C4999T:p.R1667C",{"v":0.024280575539568347,"d":"0.0242806"},54,2224,0.0021,0.0073,0.001693,0.00219649,0.006,".",".","rs144157950","D","P","B","U","N",23.4,-6.93,".",".",".","."]
["chr19",38976582,38976582,"C","T","chr19_38976582_38976582_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon34:c.C5287T:p.P1763S,RYR1:NM_001042723:exon34:c.C5287T:p.P1763S",{"v":0.0013489208633093526,"d":"0.0013489"},3,2224,{"v":7.578e-05,"d":"7.58E-05"},0.001,".",0.000199681,0.001,".",".","rs202225176","T","D","D","U","D",22.9,3.77,".",".",".","."]
["chr19",38976612,38976612,"C","T","chr19_38976612_38976612_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon34:c.C5317T:p.P1773S,RYR1:NM_001042723:exon34:c.C5317T:p.P1773S",{"v":0.02068345323741007,"d":"0.0206835"},46,2224,0.0012,0.0154,".",0.00179712,0.0089,".",".","rs192863857","D","D","D","U","D",23.4,3.62,".",".",".","."]
["chr19",38976718,38976718,"G","C","chr19_38976718_38976718_G_C","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon34:c.G5423C:p.R1808P,RYR1:NM_001042723:exon34:c.G5423C:p.R1808P",{"v":0.0004496402877697842,"d":"0.0004496"},1,2224,".",".",".",".",".",".",".",".","D","D","P","U","D",31,3.7,".",".",".","."]
["chr19",38980770,38980770,"T","A","chr19_38980770_38980770_T_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon36:c.T5869A:p.S1957T,RYR1:NM_001042723:exon36:c.T5869A:p.S1957T",{"v":0.0011529592621060721,"d":"0.0011530"},3,2602,{"v":5.657e-05,"d":"5.66E-05"},0.0008,".",0.000199681,0.001,".",".","rs192932788","D","B","B","U","N",23.7,3.53,"CM083556","DM","Low","Multi-minicore disease:5869T>A"]
["chr19",38980849,38980849,"C","T","chr19_38980849_38980849_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon36:c.C5948T:p.A1983V,RYR1:NM_001042723:exon36:c.C5948T:p.A1983V",{"v":0.0003866976024748647,"d":"0.0003867"},1,2586,{"v":9.447e-06,"d":"9.45E-06"},0,".",".",".",".",".","rs746372336","D","P","P","U","D",28.8,4.61,".",".",".","."]
["chr19",38983180,38983180,"G","T","chr19_38983180_38983180_G_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon38:c.G6178T:p.G2060C,RYR1:NM_001042723:exon38:c.G6178T:p.G2060C",{"v":0.001921598770176787,"d":"0.0019216"},5,2602,0.0693,0.0029,0.051438,0.0549121,0.0079,"Benign|Benign|not provided","Central_core_disease|not_specified|not_provided","rs35364374","T","D","P","U","N",21.2,1.7,".",".",".","."]
["chr19",38985070,38985070,"G","A","chr19_38985070_38985070_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon39:c.G6353A:p.R2118Q,RYR1:NM_001042723:exon39:c.G6353A:p.R2118Q",{"v":0.00045871559633027525,"d":"0.0004587"},1,2180,".",".",".",".",".",".",".",".","D","D","P","U","D",25.9,4.79,".",".",".","."]
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["chr19",38989844,38989844,"C","T","chr19_38989844_38989844_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon43:c.C6988T:p.R2330C,RYR1:NM_001042723:exon43:c.C6988T:p.R2330C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.419e-06,"d":"9.42E-06"},0,".",".",".",".",".","rs768804367","D","D","P","U","D",26.5,3.84,".",".",".","."]
["chr19",38990448,38990448,"C","T","chr19_38990448_38990448_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon44:c.C7201T:p.R2401W,RYR1:NM_001042723:exon44:c.C7201T:p.R2401W",{"v":0.0003897116134060795,"d":"0.0003897"},1,2566,".",".",".",".",".",".",".",".","D","D","D","U","D",28.5,3.95,".",".",".","."]
["chr19",38990562,38990562,"C","T","chr19_38990562_38990562_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon45:c.C7229T:p.P2410L,RYR1:NM_001042723:exon45:c.C7229T:p.P2410L",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":7.536e-05,"d":"7.54E-05"},0,0.000154,".",".",".",".","rs145787667","T","P","B","U","D",19.17,3.99,".",".",".","."]
["chr19",38990598,38990598,"T","C","chr19_38990598_38990598_T_C","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon45:c.T7265C:p.I2422T,RYR1:NM_001042723:exon45:c.T7265C:p.I2422T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","U","D",18.99,3.99,".",".",".","."]
["chr19",38991503,38991503,"C","T","chr19_38991503_38991503_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon47:c.C7487T:p.P2496L,RYR1:NM_001042723:exon47:c.C7487T:p.P2496L",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":9.428e-05,"d":"9.43E-05"},0.001,".",".",".","Uncertain significance,not provided","not_provided,not_provided","rs193922817","D","D","D","U","D",26.2,4.17,"CM064207","DM","High","Malignant hyperthermia:7487C>T"]
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["chr19",38993258,38993258,"G","A","chr19_38993258_38993258_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon48:c.G7726A:p.A2576T,RYR1:NM_001042723:exon48:c.G7726A:p.A2576T",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":9.524e-06,"d":"9.52E-06"},0,".",".",".",".",".","rs767394054","T","D","P","U","D",23.2,3.89,".",".",".","."]
["chr19",38993294,38993294,"C","T","chr19_38993294_38993294_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon48:c.C7762T:p.R2588C,RYR1:NM_001042723:exon48:c.C7762T:p.R2588C",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,{"v":1.898e-05,"d":"1.90E-05"},0.0001,".",".",".",".",".","rs745885315","D","D","D","U","D",26.6,3.89,".",".",".","."]
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["chr19",38994882,38994882,"G","T","chr19_38994882_38994882_G_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon50:c.G7949T:p.R2650L,RYR1:NM_001042723:exon50:c.G7949T:p.R2650L",{"v":0.0003843197540353574,"d":"0.0003843"},1,2602,".",".",".",".",".",".",".",".","D","P","P","U","D",25.3,4.04,".",".",".","."]
["chr19",38995651,38995651,"T","G","chr19_38995651_38995651_T_G","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon52:c.T8240G:p.I2747S,RYR1:NM_001042723:exon52:c.T8240G:p.I2747S",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","D","D","U","D",25.2,3.71,".",".",".","."]
["chr19",38996533,38996533,"G","A","chr19_38996533_38996533_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon54:c.G8488A:p.E2830K,RYR1:NM_001042723:exon54:c.G8488A:p.E2830K",{"v":0.0003878975950349108,"d":"0.0003879"},1,2578,".",".",".",".",".",".",".",".","D","P","B","U","D",24.2,4.08,".",".",".","."]
["chr19",38997165,38997165,"A","C","chr19_38997165_38997165_A_C","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon56:c.A8671C:p.K2891Q,RYR1:NM_001042723:exon56:c.A8671C:p.K2891Q",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,0.0002,0.0004,0.000538,0.000798722,".",".",".","rs146793133","D","D","D","U","D",22.6,3.14,".",".",".","."]
["chr19",39002756,39002756,"C","T","chr19_39002756_39002756_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon62:c.C9217T:p.R3073C,RYR1:NM_001042723:exon62:c.C9217T:p.R3073C",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.431e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs757245142","D","D","D","U","D",30,4.05,".",".",".","."]
["chr19",39003028,39003028,"G","T","chr19_39003028_39003028_G_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon63:c.G9377T:p.G3126V,RYR1:NM_001042723:exon63:c.G9377T:p.G3126V",{"v":0.0007739938080495357,"d":"0.0007740"},2,2584,".",".",".",".",".",".",".",".","D","P","B","U","D",22.9,4.36,".",".",".","."]
["chr19",39008072,39008072,"-","G","chr19_39008072_39008072_-_G","RYR1","frameshift insertion","RYR1:NM_000540:exon66:c.9760dupG:p.I3253fs,RYR1:NM_001042723:exon66:c.9760dupG:p.I3253fs",{"v":0.0024752475247524753,"d":"0.0024752"},1,404,".",".",".",".",".",".",".",".",".",".",".",".",".",32,0.767,".",".",".","."]
["chr19",39008111,39008111,"G","A","chr19_39008111_39008111_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon66:c.G9798A:p.M3266I,RYR1:NM_001042723:exon66:c.G9798A:p.M3266I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.891e-05,"d":"1.89E-05"},0.0003,".",0.000399361,0.002,".",".","rs188176550","T","P","D","U","D",14.93,4.01,".",".",".","."]
["chr19",39008172,39008172,"C","T","chr19_39008172_39008172_C_T","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon66:c.C9859T:p.R3287C,RYR1:NM_001042723:exon66:c.C9859T:p.R3287C",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,{"v":8.562e-05,"d":"8.56E-05"},0.0009,".",0.000199681,0.001,".",".","rs201276068","D","D","P","U","D",23,2.8,"CM149903","DM","High","Congenital myopathy with central nuclei:9859C>T"]
["chr19",39008322,39008322,"C","G","chr19_39008322_39008322_C_G","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon66:c.C10009G:p.R3337G,RYR1:NM_001042723:exon66:c.C10009G:p.R3337G",{"v":0.0015372790161414297,"d":"0.0015373"},4,2602,{"v":3.799e-05,"d":"3.80E-05"},0.0005,".",0.000199681,0.001,".",".","rs200296387","D","D","D","U","D",23.4,3.41,".",".",".","."]
["chr19",39013724,39013724,"G","A","chr19_39013724_39013724_G_A","RYR1","nonsynonymous SNV","RYR1:NM_000540:exon68:c.G10316A:p.G3439D,RYR1:NM_001042723:exon68:c.G10316A:p.G3439D",{"v":0.0013089005235602095,"d":"0.0013089"},1,764,{"v":1.01e-05,"d":"1.01E-05"},0.0001,".",".",".",".",".","rs753331417","D","P","P","U","D",23.3,1.75,".",".",".","."]
["chr19",39015999,39016001,"AAG","-","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",{"v":0.001098901098901099,"d":"0.0010989"},2,1820,0.0002,0.0033,".",".",".",".",".","rs750515732",".",".",".",".",".",19.43,4.3,".",".",".","."]
["chr19",39019604,39019606,"AGG","-","chr19_39019604_39019606_AGG_-","RYR1","nonframeshift deletion","RYR1:NM_001042723:exon75:c.11033_11035del:p.3678_3679del,RYR1:NM_000540:exon76:c.11048_11050del:p.3683_3684del",{"v":0.017287234042553192,"d":"0.0172872"},13,752,0.0084,0.004,0.014377,".",".","Uncertain significance","Malignant_hypothermia","rs777013010",".",".",".",".",".",22.9,4.44,".",".",".","."]
["chr19",39019646,39019646,"C","T","chr19_39019646_39019646_C_T","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon75:c.C11075T:p.P3692L,RYR1:NM_000540:exon76:c.C11090T:p.P3697L",{"v":0.001201923076923077,"d":"0.0012019"},3,2496,".",".",".",".",".",".",".",".","D","D","D","U","D",25.9,5.33,".",".",".","."]
["chr19",39023168,39023168,"A","G","chr19_39023168_39023168_A_G","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon76:c.A11165G:p.D3722G,RYR1:NM_000540:exon77:c.A11180G:p.D3727G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":9.431e-06,"d":"9.43E-06"},0.0001,".",".",".",".",".","rs751930696","T","D","P","U","D",23.1,5.01,".",".",".","."]
["chr19",39025366,39025366,"C","G","chr19_39025366_39025366_C_G","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon78:c.C11251G:p.Q3751E,RYR1:NM_000540:exon79:c.C11266G:p.Q3756E",{"v":0.044512663085188024,"d":"0.0445127"},116,2606,0.0359,0.055,0.011841,0.0351438,0.0496,"not provided|Benign","not_provided|not_specified","rs4802584","T","B","B","N","N",11.43,4.82,".",".",".","."]
["chr19",39039020,39039020,"C","T","chr19_39039020_39039020_C_T","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon88:c.C12227T:p.T4076M,RYR1:NM_000540:exon89:c.C12242T:p.T4081M",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":2.825e-05,"d":"2.83E-05"},0.0001,".",".",".",".",".","rs373406011","T","D","D","U","D",23.2,4.36,"CM064195","DM","High","Malignant hyperthermia:12242C>T"]
["chr19",39051898,39051898,"C","T","chr19_39051898_39051898_C_T","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon89:c.C12413T:p.A4138V,RYR1:NM_000540:exon90:c.C12428T:p.A4143V",{"v":0.0011529592621060721,"d":"0.0011530"},3,2602,0.0001,0.0018,".",".",".",".",".","rs760743396","D","D","D","U","D",26.1,3.35,".",".",".","."]
["chr19",39055762,39055762,"-","GGGCGC","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",{"v":0.002512562814070352,"d":"0.0025126"},1,398,0,0,".",".",".",".",".","rs776979677",".",".",".",".",".",16.81,3.07,".",".",".","."]
["chr19",39057597,39057597,"C","G","chr19_39057597_39057597_C_G","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon91:c.C13469G:p.P4490R,RYR1:NM_000540:exon92:c.C13484G:p.P4495R",{"v":0.0012755102040816326,"d":"0.0012755"},1,784,{"v":2.048e-05,"d":"2.05E-05"},0.0002,".",".",".",".",".","rs138929547","T","D","D","U","N",9.774,".",".",".",".","."]
["chr19",39058487,39058487,"C","A","chr19_39058487_39058487_C_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon92:c.C13574A:p.P4525H,RYR1:NM_000540:exon93:c.C13589A:p.P4530H",{"v":0.0012787723785166241,"d":"0.0012788"},1,782,".",".",".",".",".",".",".",".","T","D","P","U","N",22,4.03,".",".",".","."]
["chr19",39061304,39061304,"G","A","chr19_39061304_39061304_G_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon93:c.G13702A:p.A4568T,RYR1:NM_000540:exon94:c.G13717A:p.A4573T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","U","D",26.6,5.1,".",".",".","."]
["chr19",39062846,39062846,"G","A","chr19_39062846_39062846_G_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon94:c.G13919A:p.R4640Q,RYR1:NM_000540:exon95:c.G13934A:p.R4645Q",{"v":0.0015349194167306216,"d":"0.0015349"},4,2606,{"v":4.708e-05,"d":"4.71E-05"},0.0004,".",".",".","not provided","not_provided","rs193922860","T","B","B","U","N",23.9,5.11,"CM064219","DM","High","Malignant hyperthermia:13934G>A"]
["chr19",39063817,39063817,"G","C","chr19_39063817_39063817_G_C","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon95:c.G13984C:p.V4662L,RYR1:NM_000540:exon96:c.G13999C:p.V4667L",{"v":0.0011511895625479663,"d":"0.0011512"},3,2606,{"v":4.709e-05,"d":"4.71E-05"},0.0006,".",".",".",".",".","rs764016241","D","P","B","U","D",26.7,4.39,".",".",".","."]
["chr19",39063895,39063895,"C","G","chr19_39063895_39063895_C_G","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon95:c.C14062G:p.P4688A,RYR1:NM_000540:exon96:c.C14077G:p.P4693A",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","U","D",23.4,4.52,".",".",".","."]
["chr19",39068588,39068588,"C","T","chr19_39068588_39068588_C_T","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon97:c.C14188T:p.R4730W,RYR1:NM_000540:exon98:c.C14203T:p.R4735W",{"v":0.0003875968992248062,"d":"0.0003876"},1,2580,{"v":1.884e-05,"d":"1.88E-05"},0,".",".",".","Uncertain significance","not_provided","rs766887342","T","D","D","U","D",24.2,2.79,".",".",".","."]
["chr19",39068784,39068784,"G","T","chr19_39068784_39068784_G_T","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon98:c.G14289T:p.W4763C,RYR1:NM_000540:exon99:c.G14304T:p.W4768C",{"v":0.00038491147036181676,"d":"0.0003849"},1,2598,".",".",".",".",".",".",".",".","D","D","D","U","D",25.9,4.93,".",".",".","."]
["chr19",39070679,39070679,"T","A","chr19_39070679_39070679_T_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon99:c.T14407A:p.F4803I,RYR1:NM_000540:exon100:c.T14422A:p.F4808I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".","not provided","not_provided","rs193922872","D","D","D","U","D",25.8,4.84,".",".",".","."]
["chr19",39070680,39070680,"T","A","chr19_39070680_39070680_T_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon99:c.T14408A:p.F4803Y,RYR1:NM_000540:exon100:c.T14423A:p.F4808Y",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","U","D",24.9,4.84,"CM131210","DM","High","Myopathy  congenital:14423T>A"]
["chr19",39070709,39070709,"G","A","chr19_39070709_39070709_G_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon99:c.G14437A:p.A4813T,RYR1:NM_000540:exon100:c.G14452A:p.A4818T",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","D","D","U","D",27.5,4.57,".",".",".","."]
["chr19",39071100,39071100,"G","A","chr19_39071100_39071100_G_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon100:c.G14587A:p.E4863K,RYR1:NM_000540:exon101:c.G14602A:p.E4868K",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":3.767e-05,"d":"3.77E-05"},0.0005,".",0.000399361,0.002,".",".","rs187569997","D","D","D","U","D",28.7,4.81,".",".",".","."]
["chr19",39075661,39075661,"G","A","chr19_39075661_39075661_G_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon101:c.G14710A:p.E4904K,RYR1:NM_000540:exon102:c.G14725A:p.E4909K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,{"v":1.886e-05,"d":"1.89E-05"},0,".",".",".",".",".","rs780237633","D","D","P","U","D",24.6,5.08,".",".",".","."]
["chr19",39075709,39075709,"G","A","chr19_39075709_39075709_G_A","RYR1","nonsynonymous SNV","RYR1:NM_001042723:exon101:c.G14758A:p.V4920I,RYR1:NM_000540:exon102:c.G14773A:p.V4925I",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","B","U","D",26,5.08,".",".",".","."]
["chr22",30000066,30000066,"G","C","chr22_30000066_30000066_G_C","NF2","nonsynonymous SNV","NF2:NM_000268:exon1:c.G79C:p.V27L,NF2:NM_016418:exon1:c.G79C:p.V27L,NF2:NM_181825:exon1:c.G79C:p.V27L,NF2:NM_181828:exon1:c.G79C:p.V27L,NF2:NM_181829:exon1:c.G79C:p.V27L,NF2:NM_181830:exon1:c.G79C:p.V27L,NF2:NM_181831:exon1:c.G79C:p.V27L,NF2:NM_181832:exon1:c.G79C:p.V27L,NF2:NM_181833:exon1:c.G79C:p.V27L",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".",".",".",".","T","B","B","N","D",16.98,4.14,".",".",".","."]
["chr22",30070884,30070884,"G","A","chr22_30070884_30070884_G_A","NF2","nonsynonymous SNV","NF2:NM_181830:exon11:c.G1151A:p.R384K,NF2:NM_181831:exon11:c.G1151A:p.R384K,NF2:NM_181828:exon12:c.G1274A:p.R425K,NF2:NM_181829:exon12:c.G1277A:p.R426K,NF2:NM_000268:exon13:c.G1400A:p.R467K,NF2:NM_016418:exon13:c.G1400A:p.R467K,NF2:NM_181825:exon13:c.G1400A:p.R467K,NF2:NM_181832:exon13:c.G1400A:p.R467K",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","B","B","D","D",16.48,4.58,".",".",".","."]
["chr22",30070923,30070923,"C","T","chr22_30070923_30070923_C_T","NF2","nonsynonymous SNV","NF2:NM_181830:exon11:c.C1190T:p.T397M,NF2:NM_181831:exon11:c.C1190T:p.T397M,NF2:NM_181828:exon12:c.C1313T:p.T438M,NF2:NM_181829:exon12:c.C1316T:p.T439M,NF2:NM_000268:exon13:c.C1439T:p.T480M,NF2:NM_016418:exon13:c.C1439T:p.T480M,NF2:NM_181825:exon13:c.C1439T:p.T480M,NF2:NM_181832:exon13:c.C1439T:p.T480M",{"v":0.003826530612244898,"d":"0.0038265"},3,784,0.0004,0.0066,".",0.000399361,0.002,".",".","rs145666157","T","P","P","N","N",25.8,4.39,".",".",".","."]
["chr22",30077438,30077438,"A","G","chr22_30077438_30077438_A_G","NF2","nonsynonymous SNV","NF2:NM_181830:exon13:c.A1336G:p.M446V,NF2:NM_181831:exon13:c.A1336G:p.M446V,NF2:NM_181828:exon14:c.A1459G:p.M487V,NF2:NM_181829:exon14:c.A1462G:p.M488V,NF2:NM_000268:exon15:c.A1585G:p.M529V,NF2:NM_016418:exon15:c.A1585G:p.M529V,NF2:NM_181825:exon15:c.A1585G:p.M529V,NF2:NM_181832:exon15:c.A1585G:p.M529V",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","T","P","B","D","D",15.34,3.77,".",".",".","."]
["chr22",30077555,30077555,"A","G","chr22_30077555_30077555_A_G","NF2","nonsynonymous SNV","NF2:NM_181830:exon13:c.A1453G:p.R485G,NF2:NM_181831:exon13:c.A1453G:p.R485G,NF2:NM_181828:exon14:c.A1576G:p.R526G,NF2:NM_181829:exon14:c.A1579G:p.R527G,NF2:NM_000268:exon15:c.A1702G:p.R568G,NF2:NM_016418:exon15:c.A1702G:p.R568G,NF2:NM_181825:exon15:c.A1702G:p.R568G,NF2:NM_181832:exon15:c.A1702G:p.R568G",{"v":0.0003837298541826554,"d":"0.0003837"},1,2606,".",".",".",".",".",".",".",".","D","B","B","D","D",23.1,-0.305,".",".",".","."]
["chrX",100658972,100658972,"C","G","chrX_100658972_100658972_C_G","GLA","nonsynonymous SNV","GLA:NM_000169:exon2:c.G196C:p.E66Q",{"v":0.009216589861751152,"d":"0.0092166"},12,1302,0.0001,0.0018,".",0.000264901,0.0013,"Pathogenic|Uncertain significance","Fabry_disease|not_specified","rs104894833","D","D","D","D","A",25.4,5.55,".",".",".","."]
["chrX",100662849,100662849,"C","T","chrX_100662849_100662849_C_T","GLA","nonsynonymous SNV","GLA:NM_000169:exon1:c.G43A:p.A15T",{"v":0.0015698587127158557,"d":"0.0015699"},2,1274,".",".",".",".",".",".",".",".","T","B","B","N","N",9.17,1.17,".",".",".","."]
["chr1",45797760,45797760,"T","C","chr1_45797760_45797760_T_C","MUTYH","splicing",".",{"v":0.01419800460475825,"d":"0.0141980"},37,2606,0.0011,0.0145,".",0.00299521,0.0149,"Likely pathogenic|not provided|other","MYH-associated_polyposis|not_specified|Hereditary_cancer-predisposing_syndrome","rs77542170",".",".",".",".","D",22.9,5.3,"CS042822","DM","High","Gastric cancer:934-2A>G"]
["chr1",201009211,201009211,"C","T","chr1_201009211_201009211_C_T","CACNA1S","splicing",".",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,".",".",".",".",".",".",".","rs768824941",".",".",".",".","D",25.4,4.93,".",".",".","."]
["chr2",48033792,48033795,"TAAC","-","chr2_48033792_48033795_TAAC_-","MSH6","splicing",".",{"v":0.0018181818181818182,"d":"0.0018182"},4,2200,0.0013,0.0043,0.001278,0.00119808,0.001,"Uncertain significance|other|Uncertain significance","Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified","rs267608132",".",".",".",".",".",24,4.57,".",".",".","."]
["chr3",14172320,14172320,"A","T","chr3_14172320_14172320_A_T","TMEM43","splicing",".",{"v":0.0003846153846153846,"d":"0.0003846"},1,2600,".",".",".",".",".",".",".",".",".",".",".",".","D",21.9,4.12,".",".",".","."]
["chr3",14180799,14180799,"T","C","chr3_14180799_14180799_T_C","TMEM43","splicing",".",{"v":0.0007674597083653108,"d":"0.0007675"},2,2606,{"v":1.883e-05,"d":"1.88E-05"},0.0003,".",".",".",".",".","rs748618994",".",".",".",".","D",23.3,5.39,".",".",".","."]
["chr3",123368043,123368043,"-","G","chr3_123368043_123368043_-_G","MYLK","splicing","NM_053028:exon24:c.4082-2->C,NM_053027:exon25:c.4289-2->C,NM_053025:exon25:c.4289-2->C,NM_053026:exon24:c.4082-2->C",{"v":0.0018814675446848542,"d":"0.0018815"},4,2126,0.0363,0.0046,".",0.0257588,0.0089,".",".","rs200371896",".",".",".",".",".",12.55,3.96,".",".",".","."]
["chr13",32903579,32903579,"G","T","chr13_32903579_32903579_G_T","BRCA2","splicing",".",{"v":0.00038402457757296467,"d":"0.0003840"},1,2604,".",".",".",".",".","not provided,not provided|Pathogenic,not provided","Familial_cancer_of_breast,Familial_cancer_of_breast|Breast-ovarian_cancer,_familial_2,Familial_cancer_of_breast","rs81002820",".",".",".",".","D",23.6,5.54,"CS095769","DM","High","Breast cancer:632-1G>T"]
["chr14",23889445,23889445,"-","G","chr14_23889445_23889445_-_G","MYH7","splicing","NM_000257:exon27:c.3337-2->C",{"v":0.052255225522552254,"d":"0.0522552"},95,1818,0.0007,0.0011,".",0.0403355,0.0565,"Benign|Likely benign|Benign|Benign|Likely benign","not_specified|Paroxysmal_familial_ventricular_fibrillation|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1","rs45504498",".",".",".",".",".",9.029,5.13,".",".",".","."]
["chr17",41256280,41256280,"T","G","chr17_41256280_41256280_T_G","BRCA1","splicing",".",{"v":0.0003852080123266564,"d":"0.0003852"},1,2596,".",".",".",".",".","Pathogenic,not provided,Pathogenic|not provided","Breast-ovarian_cancer,_familial_1,Familial_cancer_of_breast,Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast","rs80358011",".",".",".",".","D",24.7,5.32,"CS126321","DM","High","Breast and/or ovarian cancer:302-2A>C"]
["chr19",38945873,38945873,"A","G","chr19_38945873_38945873_A_G","RYR1","splicing",".",{"v":0.0007680491551459293,"d":"0.0007680"},2,2604,".",".",".",".",".",".",".",".",".",".",".",".","D",23.3,3.97,".",".",".","."]