VID CVVT rsID CVAL vcfmatch CVCS CVSZ CVNA CVDS CVLE CTRS CTAA CTPS CTRR 35616 Simple 137852676 T . PLP 2 2 Familial hyperinsulinism(LP);Persistent hyperinsulinemic hypoglycemia of infancy(LP) 6/7/2014 3.9 4.5 US 3 36641 Simple 141764279 T . US 3 9 not specified(US);not provided(US);Cardiovascular phenotype(LB);Primary familial hypertrophic cardiomyopathy(US);not specified(LB);Primary familial hypertrophic cardiomyopathy(US);not specified(US);Primary familial hypertrophic cardiomyopathy(US);Hypertrophic cardiomyopathy(LB) 12/15/2016 -10.05 1.666666667 BLB 3 38183 Simple 81002812 A . US 3 6 "Breast-ovarian cancer, familial 2(US);Breast-ovarian cancer, familial 2(LP);Hereditary breast and ovarian cancer syndrome(P);Hereditary breast and ovarian cancer syndrome(P);Hereditary cancer-predisposing syndrome(P);Breast-ovarian cancer, familial 2(P)" 4/15/2016 24.903 1.666666667 P 3 41593 Simple 142254875 T . US 3 5 Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);not specified(US) 9/5/2013 -12.531 0.8 BLB 3 41633 Simple 63750361 A . US 3 8 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);not specified(US);Lynch syndrome II(US);not specified(US);not provided(US);not specified(US) 9/5/2013 -10.641 1.5 BLB 3 41646 Simple 41295288 G . US 3 4 Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(B) 9/5/2013 -14.031 1.75 BLB 3 41651 Simple 34136999 T . US 3 9 Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);not provided(US);not specified(US) 9/5/2013 -16.131 1.111111111 BLB 3 41701 Simple 63750685 C . US 3 8 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(B);Hereditary nonpolyposis colon cancer(B);not specified(B);Hereditary cancer-predisposing syndrome(B);Lynch syndrome(US);not provided(B);Hereditary nonpolyposis colorectal cancer type 4(B) 9/5/2013 -31.701 2.25 B 3 42900 Simple 376754645 T . US 3 16 "not specified(US);not specified(US);Familial hypertrophic cardiomyopathy 1(LB);Primary familial hypertrophic cardiomyopathy(US);not specified(LB);Primary familial hypertrophic cardiomyopathy(LP);not specified(US);Cardiovascular phenotype(US);Dilated Cardiomyopathy, Dominant(LB);Myosin storage myopathy(LB);Hypertrophic cardiomyopathy(LB);Myopathy, distal, 1(LB);Left ventricular noncompaction cardiomyopathy(LB);Scapuloperoneal myopathy(LB);Hypertrophic cardiomyopathy(LB);not specified(US)" 12/15/2016 -26.58 1.25 BLB 3 42965 Simple 397516187 T . US 3 5 not specified(US);Familial dilated cardiomyopathy(LP);Primary dilated cardiomyopathy(LP);not provided(P);Primary familial hypertrophic cardiomyopathy(LP) 12/15/2016 11.97 2 PLP 3 43082 Simple 187073962 G . US 3 11 "not specified(US);Hypertrophic cardiomyopathy(LB);not specified(US);not specified(US);Cardiovascular phenotype(US);Hypertrophic cardiomyopathy(LB);Left ventricular noncompaction cardiomyopathy(LB);Dilated Cardiomyopathy, Dominant(LB);Scapuloperoneal myopathy(LB);Myopathy, distal, 1(LB);Myosin storage myopathy(LB)" 12/15/2016 -21.99 1.636363636 BLB 3 46242 Simple 138873805 T . US 3 4 Rasopathy(US);not provided(B);not specified(LB);not specified(LB) 5/9/2017 -9.93 3.5 BLB 3 89172 Simple 587779204 C . US 3 6 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LP);Hereditary nonpolyposis colon cancer(US);not provided(LP);Lynch syndrome(P);Hereditary cancer-predisposing syndrome(US) 9/5/2013 10.569 1.333333333 PLP 3 89180 Simple 34014629 T . US 3 6 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary nonpolyposis colorectal cancer type 5(US);not specified(LB);not provided(US) 9/5/2013 -9.771 1.333333333 BLB 3 89216 Simple 63749893 T . US 3 4 Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB) 9/5/2013 -8.931 1.75 BLB 3 89231 Simple 63749886 T . US 3 7 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome(US);not specified(B);not specified(LB);Hereditary cancer-predisposing syndrome(B) 9/5/2013 -22.131 2 BLB 3 89263 Simple 63751305 T . US 3 6 Lynch syndrome(US);Hereditary nonpolyposis colon cancer(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -15.231 2.5 BLB 3 89280 Simple 267608071 C . US 3 5 Lynch syndrome(US);Hereditary nonpolyposis colon cancer(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -11.631 1.8 BLB 3 89384 Simple 377746844 - . US 3 5 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(B);Hereditary nonpolyposis colorectal cancer type 5(LB);Lynch syndrome(US);not provided(B) 9/5/2013 -13.611 3 BLB 3 89395 Simple 398123231 T . US 3 4 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -8.631 1.75 BLB 3 89402 Simple 63749834 C . US 3 5 Lynch syndrome(US);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -13.431 2.4 BLB 3 89464 Simple 3136365 C . US 3 4 Lynch syndrome(US);not specified(B);Hereditary nonpolyposis colorectal cancer type 5(LB);not provided(B) 9/5/2013 -12.531 3 BLB 3 89477 Simple 2229018 A . US 3 6 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(US) 9/5/2013 -14.301 2 BLB 3 89484 Simple 61753796 C . US 3 4 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary nonpolyposis colon cancer(LB) 9/5/2013 -8.931 1.5 BLB 3 89499 Simple 587779302 AACTAAACTA . US 3 6 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(B);Lynch syndrome(LB);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);not provided(B) 9/5/2013 -16.431 2.333333333 BLB 3 89500 Simple 267608132 - . US 3 9 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(US);Hereditary cancer-predisposing syndrome(B);Hereditary nonpolyposis colon cancer(B);not specified(B);Hereditary nonpolyposis colorectal cancer type 5(LB);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -25.341 2.111111111 BLB 3 89507 Simple 545466048 A . US 3 7 Lynch syndrome(US);Hereditary nonpolyposis colon cancer(B);not specified(US);not specified(US);not specified(US);not specified(US);not provided(LB) 9/5/2013 -10.131 1.428571429 BLB 3 89540 Simple 63750664 T . US 3 9 Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary nonpolyposis colorectal cancer type 5(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);not provided(US);not specified(US) 9/5/2013 -17.301 1.444444444 BLB 3 89552 Simple 41557217 C . US 3 7 Lynch syndrome(US);not specified(LB);not provided(B);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(LB) 9/5/2013 -26.031 1.428571429 BLB 3 89562 Simple 267608026 T . US 3 10 Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);not specified(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colorectal cancer type 5(US);Hereditary nonpolyposis colorectal cancer type 5(US) 9/5/2013 -13.011 1.7 BLB 3 89590 Simple 56198082 G . US 3 5 Lynch syndrome(US);not specified(US);Lynch syndrome(B);not specified(B);not specified(US) 9/5/2013 -11.571 2.2 BLB 3 89690 Simple 63750791 T . US 3 5 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);not specified(LB);Hereditary cancer-predisposing syndrome(B) 9/5/2013 -17.631 1.8 BLB 3 89705 Simple 63750527 C . US 3 8 Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome II(US);not specified(US);not specified(US);not provided(US) 9/5/2013 -10.371 1.25 BLB 3 89741 Simple 587778916 C . US 3 4 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -8.631 1.75 BLB 3 89903 Simple 35001569 G . US 3 7 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(B);not specified(LB);not specified(LB);Hereditary nonpolyposis colon cancer(B);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -21.531 2.285714286 BLB 3 89996 Simple 63750014 T . US 3 4 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary nonpolyposis colon cancer(LB) 9/5/2013 -8.631 2 BLB 3 90010 Simple 63749867 T . US 3 4 Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -8.631 1.75 BLB 3 90082 Simple 566928243 A . US 3 8 Lynch syndrome(US);not specified(US);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome(US);Hereditary cancer-predisposing syndrome(US);not specified(US);not provided(US) 9/5/2013 -10.671 1.5 BLB 3 90099 Simple 267607893 G . US 3 3 Lynch syndrome(US);not provided(LP);Lynch syndrome(P) 9/5/2013 8.469 2.333333333 PLP 3 90126 Simple 41295282 G . US 3 5 Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome II(US) 9/5/2013 -12.501 1.4 BLB 3 90303 Simple 4986984 T . US 3 6 Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary cancer-predisposing syndrome(B);not provided(LB) 9/5/2013 -17.631 1.166666667 BLB 3 90306 Simple 41295280 C . US 3 6 Lynch syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome II(US);not specified(US) 9/5/2013 -10.101 1.333333333 BLB 3 90418 Simple 267607804 - . US 3 6 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(B);Hereditary cancer-predisposing syndrome(B);not specified(B);Hereditary cancer-predisposing syndrome(B) 9/5/2013 -22.131 3 BLB 3 90442 Simple 63749994 TG . US 3 8 Lynch syndrome(US);not specified(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome II(US);not specified(US);Hereditary cancer-predisposing syndrome(US);not provided(LB) 9/5/2013 -10.401 1.25 BLB 3 90445 Simple 63749896 T . US 3 6 Lynch syndrome(US);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 9/5/2013 -12.231 1.166666667 BLB 3 90589 Simple 63751650 G . US 3 7 Lynch syndrome(US);not specified(LB);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(US);not provided(B) 9/5/2013 -18.801 1.142857143 BLB 3 90698 Simple 63750330 C . US 3 7 Lynch syndrome(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome I(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -21.531 2.142857143 BLB 3 90965 Simple 201298777 G . US 3 9 Lynch syndrome(US);not specified(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);Hereditary nonpolyposis colon cancer(LB);Lynch syndrome(US);Lynch syndrome I(LB);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome I(LB) 9/5/2013 -19.671 1.888888889 BLB 3 91028 Simple 63751469 T . US 3 3 Lynch syndrome I(US);Hereditary cancer-predisposing syndrome(P);not provided(LP) 10/28/2015 8.703 0.666666667 PLP 3 91030 Simple 63750084 - . US 3 4 Lynch syndrome(US);not provided(P);Hereditary cancer-predisposing syndrome(P);Hereditary nonpolyposis colon cancer(P) 10/28/2015 14.703 2.25 P 3 91033 Simple 63750808 T . US 3 3 Lynch syndrome I(US);not provided(LP);Hereditary cancer-predisposing syndrome(P) 10/28/2015 8.403 1.333333333 PLP 3 91035 Simple 63751007 - . US 3 3 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(P);Hereditary nonpolyposis colon cancer(P) 10/28/2015 10.503 1.666666667 PLP 3 91045 Simple 551060742 T . US 3 9 Lynch syndrome I(US);Hereditary nonpolyposis colon cancer(B);not specified(US);Lynch syndrome I(US);Hereditary cancer-predisposing syndrome(US);not specified(US);not specified(LB);Hereditary cancer-predisposing syndrome(US);not provided(US) 10/28/2015 -11.067 0.777777778 BLB 3 91051 Simple 150259097 A . US 3 7 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Lynch syndrome I(LB);not specified(LB);Hereditary cancer-predisposing syndrome(LB);not provided(US) 9/5/2013 -17.331 1.857142857 BLB 3 91097 Simple 63750124 G . US 3 8 Lynch syndrome(US);not specified(US);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);not specified(US);not specified(US);not specified(US);not provided(LB) 9/5/2013 -13.401 1.125 BLB 3 91098 Simple 587779161 C . US 3 4 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);Lynch syndrome I(LB);Hereditary nonpolyposis colon cancer(LB) 9/5/2013 -8.931 1.75 BLB 3 91112 Simple 63750255 C . US 3 6 Lynch syndrome(US);not specified(LB);Hereditary cancer-predisposing syndrome(LB);Hereditary nonpolyposis colon cancer(B);Hereditary cancer-predisposing syndrome(LB);not provided(LB) 9/5/2013 -17.931 1.333333333 BLB 3 91200 Simple 587779180 C . US 3 5 Lynch syndrome(US);Hereditary cancer-predisposing syndrome(LB);not specified(LB);Hereditary nonpolyposis colon cancer(LB);Hereditary cancer-predisposing syndrome(LB) 9/5/2013 -11.631 1.8 BLB 3 91328 Simple 267608161 T . US 3 5 Lynch syndrome(US);not provided(P);Lynch syndrome(P);Hereditary cancer-predisposing syndrome(LP);Hereditary nonpolyposis colon cancer(LP) 9/5/2013 17.169 1.4 P 3 91330 Simple 587779335 - . US 3 6 Lynch syndrome I(US);Lynch syndrome I(LP);Lynch syndrome(LB);Hereditary nonpolyposis colon cancer(P);Hereditary cancer-predisposing syndrome(P);Lynch syndrome(P) 11/24/2015 17.103 1.166666667 P 3