1 27 ENST00000381657 ATG/- 0 intron_variant,feature_truncation 0 0 0 0 0 0 2665 NULL NULL 6:g.1082829_1082831delATG ENST00000381657.1:c.-205+2600_-205+2602delATG NULL 0 0 1 2 28 ENST00000381657 -/GCT 0 intron_variant,feature_truncation 0 0 0 0 0 0 4760 NULL NULL 6:g.1084924_1084925insGCT ENST00000381657.1:c.-205+4695_-205+4696insGCT NULL 0 0 1 3 29 ENST00000381657 CCTG/- 1 intron_variant,feature_truncation 0 0 0 0 0 0 9667 NULL NULL 6:g.1089831_1089834delCCTG ENST00000381657.1:c.-205+9602_-205+9605delCCTG NULL 0 0 1 4 30 ENST00000381657 -/CTTCTACC 0 intron_variant,feature_truncation 0 0 0 0 0 0 9793 NULL NULL 6:g.1089957_1089958insCTTCTACC ENST00000381657.1:c.-205+9728_-205+9729insCTTCTACC NULL 0 0 0 5 31 ENST00000381657 GAA/- 1 intron_variant,feature_truncation 0 0 0 0 0 0 7983 NULL NULL 6:g.1097196_1097198delGAA ENST00000381657.1:c.-204-4108_-204-4106delGAA NULL 0 0 1 49961554 23700396 ENST00000470094 C/G 0 missense_variant 17 17 16 16 6 6 15 TCT/TGT S/C 13:g.32953992C>G ENST00000470094.1:c.16C>G ENSP00000434898.1:p.Ser6Cys probably damaging 0.946 deleterious 0.02 1 49962251 23700402 ENST00000470094 C/G 0 missense_variant,NMD_transcript_variant 34 34 33 33 12 12 32 CAG/GAG Q/E 13:g.32954009C>G ENST00000470094.1:c.33C>G ENSP00000434898.1:p.Gln12Glu possibly damaging 0.591 deleterious 0 1 49962376 23700405 ENST00000470094 G/C 0 missense_variant,NMD_transcript_variant 40 40 39 39 14 14 38 GCA/CCA A/P 13:g.32954015G>C ENST00000470094.1:c.39G>C ENSP00000434898.1:p.Ala14Pro possibly damaging 0.534 deleterious 0.01 1 49962457 12945541 ENST00000470094 G/A 0 missense_variant,NMD_transcript_variant 43 43 42 42 15 15 41 GCG/ACG A/T 13:g.32954018G>A ENST00000470094.1:c.42G>A ENSP00000434898.1:p.Ala15Thr possibly damaging 0.786 deleterious 0.02 1 49962539 23700408 ENST00000470094 C/T 0 missense_variant,NMD_transcript_variant 44 44 43 43 15 15 42 GCG/GTG A/V 13:g.32954019C>T ENST00000470094.1:c.43C>T ENSP00000434898.1:p.Ala15Val benign 0.174 deleterious 0.02 1 49963647 23700414 ENST00000470094 A/G 0 missense_variant,NMD_transcript_variant 59 59 58 58 20 20 57 CAG/CGG Q/R 13:g.32954034A>G ENST00000470094.1:c.58A>G ENSP00000434898.1:p.Gln20Arg benign 0.014 tolerated 0.41 1 49963772 23700417 ENST00000470094 A/C 0 missense_variant,NMD_transcript_variant 62 62 61 61 21 21 60 TAT/TCT Y/S 13:g.32954037A>C ENST00000470094.1:c.61A>C ENSP00000434898.1:p.Tyr21Ser probably damaging 0.988 deleterious 0 1 49963781 23700417 ENST00000470094 A/G 0 missense_variant,NMD_transcript_variant 62 62 61 61 21 21 60 TAT/TGT Y/C 13:g.32954037A>G ENST00000470094.1:c.61A>G ENSP00000434898.1:p.Tyr21Cys probably damaging 0.994 deleterious 0 1 49963905 56190413 ENST00000470094 C/G 0 missense_variant,NMD_transcript_variant 64 64 63 63 22 22 62 CAA/GAA Q/E 13:g.32954039C>G ENST00000470094.1:c.63C>G ENSP00000434898.1:p.Gln22Glu benign 0.136 tolerated 0.21 1 49964088 54875652 ENST00000470094 A/T 0 missense_variant,NMD_transcript_variant 69 69 68 68 23 23 67 CAA/CAT Q/H 13:g.32954044A>T ENST00000470094.1:c.68A>T ENSP00000434898.1:p.Gln23His probably damaging 0.958 tolerated 0.07 1 38362444 1004334 ENST00000422420 A/T 0 downstream_gene_variant 0 0 0 0 0 0 3408 NULL NULL 9:g.22124505A>T NULL NULL 0 0 1 331368049 5296660 ENST00000427020 T/A 0 non_coding_transcript_variant,intron_variant 0 0 0 0 0 0 8274 NULL NULL 2:g.45183991T>A ENST00000427020.4:n.255+5130A>T NULL 0 0 0 92211034 21608359 ENST00000502692 G/A 0 synonymous_variant 1539 1539 1655 1655 513 513 3957 GCG/GCA A 11:g.66326840G>A ENST00000502692.1:c.1539G>A ENST00000502692.1:c.1539G>A(p.=) \N \N \N \N 1 92227693 22266546 ENST00000502692 A/T 0 missense_variant 2696 2696 2812 2812 899 899 272 GAG/GTG E/V 11:g.66330525A>T ENST00000502692.1:c.2696A>T ENSP00000422007.1:p.Glu899Val probably damaging 0.999 \N \N 1 92227478 22966778 ENST00000502692 G/T 0 stop_gained 2695 2695 2811 2811 899 899 273 GAG/TAG E/* 11:g.66330524G>T ENST00000502692.1:c.2695G>T ENSP00000422007.1:p.Glu899Ter \N \N \N \N 1 92213502 1166730 ENST00000502692 G/A 0 missense_variant 1697 1697 1813 1813 566 566 3124 CGG/CAG R/Q 11:g.66327673G>A ENST00000502692.1:c.1697G>A ENSP00000422007.1:p.Arg566Gln benign 0 \N \N 1 92215657 1242038 ENST00000502692 T/C 0 stop_lost 1858 1858 1974 1974 620 620 2702 TGA/CGA */R 11:g.66328095T>C ENST00000502692.1:c.1858T>C ENSP00000422007.1:p.Ter620ArgextTer? \N \N \N \N 1 92215273 1613615 ENST00000502692 A/G 0 synonymous_variant 1818 1818 1934 1934 606 606 2742 ACA/ACG T 11:g.66328055A>G ENST00000502692.1:c.1818A>G ENST00000502692.1:c.1818A>G(p.=) \N \N \N \N 1 92218009 1613616 ENST00000502692 A/C 0 missense_variant 2033 2033 2149 2149 678 678 2056 GAG/GCG E/A 11:g.66328741A>C ENST00000502692.1:c.2033A>C ENSP00000422007.1:p.Glu678Ala probably damaging 0.949 \N \N 1 92224237 363545 ENST00000502692 A/G 0 missense_variant 2456 2456 2572 2572 819 819 1065 CAG/CGG Q/R 11:g.66329732A>G ENST00000502692.1:c.2456A>G ENSP00000422007.1:p.Gln819Arg benign 0 \N \N 1 92217901 424852 ENST00000502692 T/C 0 missense_variant 2011 2011 2127 2127 671 671 2078 TGT/CGT C/R 11:g.66328719T>C ENST00000502692.1:c.2011T>C ENSP00000422007.1:p.Cys671Arg benign 0 \N \N 1 92216616 4806434 ENST00000502692 G/A 0 synonymous_variant 1962 1962 2078 2078 654 654 2598 CCG/CCA P 11:g.66328199G>A ENST00000502692.1:c.1962G>A ENST00000502692.1:c.1962G>A(p.=) \N \N \N \N 1 938362444 1004334 ENST00000422420 A/T 0 0 0 0 0 0 0 3408 NULL NULL 9:g.22124505A>T NULL NULL 0 0 1