Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
17:7673802:T | R273H | missense_variant | 1.00 | 21 |
17:7675088:T | R175H | missense_variant | 1.00 | 20 |
17:7674872:C | Y220C | missense_variant | 1.00 | 18 |
17:7674220:T | R248Q | missense_variant | 1.00 | 15 |
17:7674947:G | I195T | missense_variant | 0.99 | 13 |
17:7674221:A | R248W | missense_variant | 1.00 | 11 |
17:7674241:A | S241F | missense_variant | 1.00 | 10 |
17:7673806:T | V272M | missense_variant | 1.00 | 7 |
17:7675076:C | H179R | missense_variant | 1.00 | 7 |
17:7675124:C | Y163C | missense_variant | 1.00 | 7 |
17:7674957:A | Q192* | stop_gained | 1.00 | 7 |
17:7673776:A | R282W | missense_variant | 0.99 | 7 |
17:7675085:A | C176F | missense_variant | 1.00 | 6 |
17:7673803:A | R273C | missense_variant | 1.00 | 6 |
17:7674894:A | R213* | stop_gained | 1.00 | 6 |
17:7673796:T | C275Y | missense_variant | 1.00 | 5 |
17:7673802:A | R273L | missense_variant | 1.00 | 5 |
17:7675085:T | C176Y | missense_variant | 1.00 | 5 |
17:7670685:A | R342* | stop_gained | 1.00 | 5 |
17:7673704:A | R306* | stop_gained | 0.99 | 5 |
17:7674229:T | G245D | missense_variant | 1.00 | 4 |
17:7674250:T | C238Y | missense_variant | 1.00 | 4 |
17:7674218:C | R249G | missense_variant | 0.99 | 4 |
17:7674950:C | L194R | missense_variant | 0.99 | 4 |
17:7675143:A | V157F | missense_variant | 0.99 | 4 |
17:7674954:A | H193Y | missense_variant | 0.99 | 4 |
17:7673824:T | G266R | missense_variant | 1.00 | 3 |
17:7674252:A | M237I | missense_variant | 1.00 | 3 |
17:7674230:T | G245S | missense_variant | 1.00 | 3 |
17:7674233:T | G244S | missense_variant | 1.00 | 3 |
17:7674921:A | E204* | stop_gained | 1.00 | 3 |
17:7675174:T | W146* | stop_gained | 1.00 | 3 |
17:7674262:C | Y234C | missense_variant | 1.00 | 3 |
17:7674885:T | V216M | missense_variant | 1.00 | 3 |
17:7675161:A | P151S | missense_variant | 1.00 | 3 |
17:7674253:T | M237K | missense_variant | 1.00 | 3 |
17:7674947:T | I195N | missense_variant | 0.99 | 3 |
17:7674193:T | L257Q | missense_variant | 0.99 | 3 |
17:7673740:A | E294* | stop_gained | 0.99 | 3 |
17:7674953:C | H193R | missense_variant | 0.99 | 3 |
17:7673787:C | P278R | missense_variant | 0.99 | 3 |
17:7675125:G | Y163H | missense_variant | 0.99 | 3 |
17:7675217:C | K132R | missense_variant | 0.95 | 3 |
17:7673823:A | G266V | missense_variant | 1.00 | 2 |
17:7673764:T | E286K | missense_variant | 1.00 | 2 |
17:7673781:A | R280I | missense_variant | 1.00 | 2 |
17:7673802:G | R273P | missense_variant | 1.00 | 2 |
17:7673823:T | G266E | missense_variant | 1.00 | 2 |
17:7675095:T | V173M | missense_variant | 1.00 | 2 |
17:7674252:T | M237I | missense_variant | 1.00 | 2 |
17:7675098:A | V172F | missense_variant | 1.00 | 2 |
17:7674256:C | Y236C | missense_variant | 1.00 | 2 |
17:7673799:C | V274G | missense_variant | 1.00 | 2 |
17:7675160:C | P151R | missense_variant | 1.00 | 2 |
17:7675145:G | R156P | missense_variant | 1.00 | 2 |
17:7674251:C | C238G | missense_variant | 1.00 | 2 |
17:7674211:C | I251S | missense_variant | 0.99 | 2 |
17:7675136:A | A159V | missense_variant | 0.99 | 2 |
17:7674890:C | H214R | missense_variant | 0.99 | 2 |
17:7674948:A | I195F | missense_variant | 0.99 | 2 |
17:7673537:A | Q331* | stop_gained | 0.99 | 2 |
17:7673787:A | P278L | missense_variant | 0.99 | 2 |
17:7673787:T | P278H | missense_variant | 0.99 | 2 |
17:7675086:C | C176G | missense_variant | 0.99 | 2 |
17:7674870:A | E221* | stop_gained | 0.99 | 2 |
17:7675082:C | P177R | missense_variant | 0.98 | 2 |
17:7674939:A | E198* | stop_gained | 0.97 | 2 |
17:7675199:A | A138V | missense_variant | 0.95 | 2 |
17:7675218:C | K132E | missense_variant | 0.95 | 2 |
17:7675208:A | C135F | missense_variant | 0.94 | 2 |
17:7675212:C | F134V | missense_variant | 0.92 | 2 |
17:7675211:C | F134C | missense_variant | 0.78 | 2 |
17:7674859:T | E224E | splice_region_variant | 1.00 | 1 |
17:7673806:A | V272L | missense_variant | 1.00 | 1 |
17:7673784:T | G279E | missense_variant | 1.00 | 1 |
17:7673790:A | C277F | missense_variant | 1.00 | 1 |
17:7674221:C | R248G | missense_variant | 1.00 | 1 |
17:7673779:A | D281Y | missense_variant | 1.00 | 1 |
17:7673779:G | D281H | missense_variant | 1.00 | 1 |
17:7673781:T | R280K | missense_variant | 1.00 | 1 |
17:7673796:A | C275F | missense_variant | 1.00 | 1 |
17:7673796:G | C275S | missense_variant | 1.00 | 1 |
17:7673794:G | A276P | missense_variant | 1.00 | 1 |
17:7673803:C | R273G | missense_variant | 1.00 | 1 |
17:7673763:C | E286G | missense_variant | 1.00 | 1 |
17:7673811:G | F270S | missense_variant | 1.00 | 1 |
17:7675109:C | H168R | missense_variant | 1.00 | 1 |
17:7674217:A | R249M | missense_variant | 1.00 | 1 |
17:7674250:A | C238F | missense_variant | 1.00 | 1 |
17:7674232:T | G244D | missense_variant | 1.00 | 1 |
17:7674233:A | G244C | missense_variant | 1.00 | 1 |
17:7674230:G | G245R | missense_variant | 1.00 | 1 |
17:7675131:T | A161T | missense_variant | 1.00 | 1 |
17:7673778:A | D281V | missense_variant | 1.00 | 1 |
17:7673547:C | Y327* | stop_gained | 1.00 | 1 |
17:7674242:C | S241A | missense_variant | 1.00 | 1 |
17:7675161:T | P151T | missense_variant | 1.00 | 1 |
17:7673826:G | L265P | missense_variant | 1.00 | 1 |
17:7673799:T | V274D | missense_variant | 1.00 | 1 |
17:7674917:C | Y205C | missense_variant | 1.00 | 1 |
17:7673835:A | G262V | missense_variant | 0.99 | 1 |
17:7675089:C | R175G | missense_variant | 0.99 | 1 |
17:7674191:T | E258K | missense_variant | 0.99 | 1 |
17:7674884:C | V216G | missense_variant | 0.99 | 1 |
17:7676096:T | W91* | stop_gained | 0.99 | 1 |
17:7674268:T | I232N | missense_variant | 0.99 | 1 |
17:7673749:A | K291* | stop_gained | 0.99 | 1 |
17:7675151:A | G154V | missense_variant | 0.99 | 1 |
17:7673788:A | P278S | missense_variant | 0.99 | 1 |
17:7674257:G | Y236H | missense_variant | 0.99 | 1 |
17:7675086:T | C176S | missense_variant | 0.99 | 1 |
17:7675125:T | Y163N | missense_variant | 0.99 | 1 |
17:7674263:T | Y234N | missense_variant | 0.99 | 1 |
17:7673777:C | D281E | missense_variant | 0.99 | 1 |
17:7674239:T | C242S | missense_variant | 0.99 | 1 |
17:7674239:G | C242R | missense_variant | 0.99 | 1 |
17:7675122:C | K164E | missense_variant | 0.99 | 1 |
17:7673579:A | Q317* | stop_gained | 0.99 | 1 |
17:7674247:C | N239S | missense_variant | 0.99 | 1 |
17:7674248:A | N239Y | missense_variant | 0.99 | 1 |
17:7674205:T | T253N | missense_variant | 0.99 | 1 |
17:7676059:A | Q104* | stop_gained | 0.99 | 1 |
17:7670682:A | E343* | stop_gained | 0.99 | 1 |
17:7670694:A | E339* | stop_gained | 0.98 | 1 |
17:7675077:C | H179D | missense_variant | 0.98 | 1 |
17:7675130:T | A161D | missense_variant | 0.98 | 1 |
17:7675157:A | P152L | missense_variant | 0.98 | 1 |
17:7675077:A | H179Y | missense_variant | 0.98 | 1 |
17:7673805:C | V272G | missense_variant | 0.98 | 1 |
17:7675997:T | C124* | stop_gained | 0.98 | 1 |
17:7674216:A | R249S | missense_variant | 0.98 | 1 |
17:7676071:A | Q100* | stop_gained | 0.97 | 1 |
17:7674214:A | P250L | missense_variant | 0.97 | 1 |
17:7670664:A | E349* | stop_gained | 0.97 | 1 |
17:7673809:A | E271* | stop_gained | 0.97 | 1 |
17:7675224:C | L130V | missense_variant | 0.96 | 1 |
17:7674944:G | R196P | missense_variant | 0.96 | 1 |
17:7675220:A | N131I | missense_variant | 0.96 | 1 |
17:7675075:T | H179Q | missense_variant | 0.96 | 1 |
17:7675995:A | T125M | missense_variant | 0.96 | 1 |
17:7674206:G | T253P | missense_variant | 0.96 | 1 |
17:7674206:C | T253A | missense_variant | 0.96 | 1 |
17:7675119:A | Q165* | stop_gained | 0.96 | 1 |
17:7675232:A | S127F | missense_variant | 0.95 | 1 |
17:7675232:T | S127Y | missense_variant | 0.95 | 1 |
17:7675223:T | L130H | missense_variant | 0.95 | 1 |
17:7675175:T | W146* | stop_gained | 0.95 | 1 |
17:7673567:A | K321* | stop_gained | 0.95 | 1 |
17:7675217:A | K132M | missense_variant | 0.95 | 1 |
17:7670658:A | K351* | stop_gained | 0.94 | 1 |
17:7675208:T | C135Y | missense_variant | 0.94 | 1 |
17:7675200:G | A138P | missense_variant | 0.94 | 1 |
17:7676056:A | G105C | missense_variant | 0.94 | 1 |
17:7676056:G | G105R | missense_variant | 0.94 | 1 |
17:7675206:A | Q136* | stop_gained | 0.94 | 1 |
17:7675178:C | L145R | missense_variant | 0.92 | 1 |
17:7675178:T | L145Q | missense_variant | 0.92 | 1 |
17:7675172:C | V147G | missense_variant | 0.90 | 1 |
17:7673707:A | K305* | stop_gained | 0.87 | 1 |
17:7675216:A | K132N | missense_variant | 0.84 | 1 |
17:7674886:C | S215R | missense_variant | 0.78 | 1 |
17:7676040:A | R110L | missense_variant | 0.64 | 1 |
17:7676210:T | W53* | stop_gained | 0.63 | 1 |
17:7676218:A | E51* | stop_gained | 0.58 | 1 |
17:7675139:T | R158H | missense_variant | 0.52 | 1 |
17:7674220:A | R248L | missense_variant | 1.00 | 0 |
17:7674220:G | R248P | missense_variant | 1.00 | 0 |
17:7675088:A | R175L | missense_variant | 1.00 | 0 |
17:7675088:G | R175P | missense_variant | 1.00 | 0 |
17:7673806:G | V272L | missense_variant | 1.00 | 0 |
17:7673784:A | G279V | missense_variant | 1.00 | 0 |
17:7673784:G | G279A | missense_variant | 1.00 | 0 |
17:7673790:T | C277Y | missense_variant | 1.00 | 0 |
17:7673790:G | C277S | missense_variant | 1.00 | 0 |
17:7673775:G | R282P | missense_variant | 1.00 | 0 |
17:7673775:A | R282L | missense_variant | 1.00 | 0 |
17:7673775:T | R282Q | missense_variant | 1.00 | 0 |
17:7675076:G | H179P | missense_variant | 1.00 | 0 |
17:7675076:A | H179L | missense_variant | 1.00 | 0 |
17:7673794:T | A276T | missense_variant | 1.00 | 0 |
17:7673823:G | G266A | missense_variant | 1.00 | 0 |
17:7673824:G | G266R | missense_variant | 1.00 | 0 |
17:7673794:A | A276S | missense_variant | 1.00 | 0 |
17:7673785:T | G279R | missense_variant | 1.00 | 0 |
17:7673785:G | G279R | missense_variant | 1.00 | 0 |
17:7673785:A | G279W | missense_variant | 1.00 | 0 |
17:7673781:G | R280T | missense_variant | 1.00 | 0 |
17:7673779:T | D281N | missense_variant | 1.00 | 0 |
17:7673764:G | E286Q | missense_variant | 1.00 | 0 |
17:7674229:G | G245A | missense_variant | 1.00 | 0 |
17:7674229:A | G245V | missense_variant | 1.00 | 0 |
17:7673535:T | Q331Q | splice_region_variant | 1.00 | 0 |
17:7675085:G | C176S | missense_variant | 1.00 | 0 |
17:7675095:G | V173L | missense_variant | 1.00 | 0 |
17:7675095:A | V173L | missense_variant | 1.00 | 0 |
17:7673803:T | R273S | missense_variant | 1.00 | 0 |
17:7674872:A | Y220F | missense_variant | 1.00 | 0 |
17:7674872:G | Y220S | missense_variant | 1.00 | 0 |
17:7673763:G | E286A | missense_variant | 1.00 | 0 |
17:7673763:A | E286V | missense_variant | 1.00 | 0 |
17:7673811:C | F270C | missense_variant | 1.00 | 0 |
17:7673811:T | F270Y | missense_variant | 1.00 | 0 |
17:7675109:G | H168P | missense_variant | 1.00 | 0 |
17:7675109:A | H168L | missense_variant | 1.00 | 0 |
17:7674217:G | R249T | missense_variant | 1.00 | 0 |
17:7674217:T | R249K | missense_variant | 1.00 | 0 |
17:7675124:A | Y163F | missense_variant | 1.00 | 0 |
17:7675124:G | Y163S | missense_variant | 1.00 | 0 |
17:7674250:G | C238S | missense_variant | 1.00 | 0 |
17:7674252:G | M237I | missense_variant | 1.00 | 0 |
17:7674238:A | C242F | missense_variant | 1.00 | 0 |
17:7674238:G | C242S | missense_variant | 1.00 | 0 |
17:7674238:T | C242Y | missense_variant | 1.00 | 0 |
17:7674230:A | G245C | missense_variant | 1.00 | 0 |
17:7674233:G | G244R | missense_variant | 1.00 | 0 |
17:7674232:A | G244V | missense_variant | 1.00 | 0 |
17:7674232:G | G244A | missense_variant | 1.00 | 0 |
17:7675131:A | A161S | missense_variant | 1.00 | 0 |
17:7675131:G | A161P | missense_variant | 1.00 | 0 |
17:7674190:A | E258V | missense_variant | 1.00 | 0 |
17:7674190:C | E258G | missense_variant | 1.00 | 0 |
17:7674190:G | E258A | missense_variant | 1.00 | 0 |
17:7676382:G | L32L | splice_region_variant | 1.00 | 0 |
17:7676382:T | L32L | splice_region_variant | 1.00 | 0 |
17:7676382:A | L32L | splice_region_variant | 1.00 | 0 |
17:7673778:C | D281G | missense_variant | 1.00 | 0 |
17:7673778:G | D281A | missense_variant | 1.00 | 0 |
17:7675098:G | V172L | missense_variant | 1.00 | 0 |
17:7675098:T | V172I | missense_variant | 1.00 | 0 |
17:7674262:G | Y234S | missense_variant | 1.00 | 0 |
17:7674262:A | Y234F | missense_variant | 1.00 | 0 |
17:7675137:A | A159S | missense_variant | 1.00 | 0 |
17:7675137:T | A159T | missense_variant | 1.00 | 0 |
17:7675137:G | A159P | missense_variant | 1.00 | 0 |
17:7674887:A | S215I | missense_variant | 1.00 | 0 |
17:7674888:G | S215R | missense_variant | 1.00 | 0 |
17:7674888:A | S215C | missense_variant | 1.00 | 0 |
17:7674888:C | S215G | missense_variant | 1.00 | 0 |
17:7674887:T | S215N | missense_variant | 1.00 | 0 |
17:7674887:G | S215T | missense_variant | 1.00 | 0 |
17:7673547:T | Y327* | stop_gained | 1.00 | 0 |
17:7674256:A | Y236F | missense_variant | 1.00 | 0 |
17:7674256:G | Y236S | missense_variant | 1.00 | 0 |
17:7670703:A | E336* | stop_gained | 1.00 | 0 |
17:7674242:T | S241T | missense_variant | 1.00 | 0 |
17:7674242:G | S241P | missense_variant | 1.00 | 0 |
17:7669690:A | S367S | splice_region_variant | 1.00 | 0 |
17:7674885:A | V216L | missense_variant | 1.00 | 0 |
17:7674885:G | V216L | missense_variant | 1.00 | 0 |
17:7675161:C | P151A | missense_variant | 1.00 | 0 |
17:7674267:C | I232M | missense_variant | 1.00 | 0 |
17:7674241:C | S241C | missense_variant | 1.00 | 0 |
17:7674241:T | S241Y | missense_variant | 1.00 | 0 |
17:7674873:G | Y220H | missense_variant | 1.00 | 0 |
17:7674873:T | Y220N | missense_variant | 1.00 | 0 |
17:7674873:C | Y220D | missense_variant | 1.00 | 0 |
17:7673782:C | R280G | missense_variant | 1.00 | 0 |
17:7673552:A | E326* | stop_gained | 1.00 | 0 |
17:7673826:C | L265R | missense_variant | 1.00 | 0 |
17:7673799:G | V274A | missense_variant | 1.00 | 0 |
17:7673797:T | C275S | missense_variant | 1.00 | 0 |
17:7673797:G | C275R | missense_variant | 1.00 | 0 |
17:7673797:C | C275G | missense_variant | 1.00 | 0 |
17:7673812:T | F270I | missense_variant | 1.00 | 0 |
17:7673826:T | L265Q | missense_variant | 1.00 | 0 |
17:7673812:C | F270V | missense_variant | 1.00 | 0 |
17:7673812:G | F270L | missense_variant | 1.00 | 0 |
17:7673791:G | C277R | missense_variant | 1.00 | 0 |
17:7673791:T | C277S | missense_variant | 1.00 | 0 |
17:7673791:C | C277G | missense_variant | 1.00 | 0 |
17:7674917:A | Y205F | missense_variant | 1.00 | 0 |
17:7674917:G | Y205S | missense_variant | 1.00 | 0 |
17:7675160:T | P151H | missense_variant | 1.00 | 0 |
17:7675160:A | P151L | missense_variant | 1.00 | 0 |
17:7675145:T | R156H | missense_variant | 1.00 | 0 |
17:7675145:A | R156L | missense_variant | 1.00 | 0 |
17:7674251:T | C238S | missense_variant | 1.00 | 0 |
17:7674253:C | M237R | missense_variant | 1.00 | 0 |
17:7674251:G | C238R | missense_variant | 1.00 | 0 |
17:7674253:G | M237T | missense_variant | 1.00 | 0 |
17:7674218:A | R249W | missense_variant | 0.99 | 0 |
17:7674918:G | Y205H | missense_variant | 0.99 | 0 |
17:7674918:C | Y205D | missense_variant | 0.99 | 0 |
17:7674918:T | Y205N | missense_variant | 0.99 | 0 |
17:7676068:A | K101* | stop_gained | 0.99 | 0 |
17:7673835:T | G262D | missense_variant | 0.99 | 0 |
17:7673835:G | G262A | missense_variant | 0.99 | 0 |
17:7673776:C | R282G | missense_variant | 0.99 | 0 |
17:7675089:T | R175S | missense_variant | 0.99 | 0 |
17:7675089:A | R175C | missense_variant | 0.99 | 0 |
17:7673836:A | G262C | missense_variant | 0.99 | 0 |
17:7673836:G | G262R | missense_variant | 0.99 | 0 |
17:7673836:T | G262S | missense_variant | 0.99 | 0 |
17:7674191:G | E258Q | missense_variant | 0.99 | 0 |
17:7674947:C | I195S | missense_variant | 0.99 | 0 |
17:7674950:T | L194H | missense_variant | 0.99 | 0 |
17:7674950:G | L194P | missense_variant | 0.99 | 0 |
17:7675234:T | Y126* | stop_gained | 0.99 | 0 |
17:7675234:C | Y126* | stop_gained | 0.99 | 0 |
17:7675143:T | V157I | missense_variant | 0.99 | 0 |
17:7675143:G | V157L | missense_variant | 0.99 | 0 |
17:7674193:G | L257P | missense_variant | 0.99 | 0 |
17:7674193:C | L257R | missense_variant | 0.99 | 0 |
17:7674211:T | I251N | missense_variant | 0.99 | 0 |
17:7674211:G | I251T | missense_variant | 0.99 | 0 |
17:7675136:C | A159G | missense_variant | 0.99 | 0 |
17:7675136:T | A159D | missense_variant | 0.99 | 0 |
17:7674890:G | H214P | missense_variant | 0.99 | 0 |
17:7674890:A | H214L | missense_variant | 0.99 | 0 |
17:7674884:G | V216A | missense_variant | 0.99 | 0 |
17:7674884:T | V216E | missense_variant | 0.99 | 0 |
17:7674268:G | I232T | missense_variant | 0.99 | 0 |
17:7674268:C | I232S | missense_variant | 0.99 | 0 |
17:7675189:T | C141* | stop_gained | 0.99 | 0 |
17:7674953:G | H193P | missense_variant | 0.99 | 0 |
17:7674948:C | I195V | missense_variant | 0.99 | 0 |
17:7674948:G | I195L | missense_variant | 0.99 | 0 |
17:7674953:A | H193L | missense_variant | 0.99 | 0 |
17:7675151:G | G154A | missense_variant | 0.99 | 0 |
17:7675151:T | G154D | missense_variant | 0.99 | 0 |
17:7673762:G | E286D | missense_variant | 0.99 | 0 |
17:7673762:A | E286D | missense_variant | 0.99 | 0 |
17:7675110:A | H168Y | missense_variant | 0.99 | 0 |
17:7675110:T | H168N | missense_variant | 0.99 | 0 |
17:7675110:C | H168D | missense_variant | 0.99 | 0 |
17:7675108:C | H168Q | missense_variant | 0.99 | 0 |
17:7675108:T | H168Q | missense_variant | 0.99 | 0 |
17:7673793:T | A276D | missense_variant | 0.99 | 0 |
17:7673793:C | A276G | missense_variant | 0.99 | 0 |
17:7673793:A | A276V | missense_variant | 0.99 | 0 |
17:7673788:C | P278A | missense_variant | 0.99 | 0 |
17:7673788:T | P278T | missense_variant | 0.99 | 0 |
17:7676097:T | W91* | stop_gained | 0.99 | 0 |
17:7674257:C | Y236D | missense_variant | 0.99 | 0 |
17:7674257:T | Y236N | missense_variant | 0.99 | 0 |
17:7675152:A | G154C | missense_variant | 0.99 | 0 |
17:7675152:G | G154R | missense_variant | 0.99 | 0 |
17:7675152:T | G154S | missense_variant | 0.99 | 0 |
17:7675084:C | C176W | missense_variant | 0.99 | 0 |
17:7674951:A | L194F | missense_variant | 0.99 | 0 |
17:7674951:C | L194V | missense_variant | 0.99 | 0 |
17:7674951:T | L194I | missense_variant | 0.99 | 0 |
17:7675142:T | V157D | missense_variant | 0.99 | 0 |
17:7675142:G | V157A | missense_variant | 0.99 | 0 |
17:7675094:C | V173G | missense_variant | 0.99 | 0 |
17:7675094:G | V173A | missense_variant | 0.99 | 0 |
17:7675094:T | V173E | missense_variant | 0.99 | 0 |
17:7675142:C | V157G | missense_variant | 0.99 | 0 |
17:7675125:C | Y163D | missense_variant | 0.99 | 0 |
17:7675097:T | V172D | missense_variant | 0.99 | 0 |
17:7675097:G | V172A | missense_variant | 0.99 | 0 |
17:7675097:C | V172G | missense_variant | 0.99 | 0 |
17:7675086:G | C176R | missense_variant | 0.99 | 0 |
17:7674263:C | Y234D | missense_variant | 0.99 | 0 |
17:7674263:G | Y234H | missense_variant | 0.99 | 0 |
17:7676525:A | K24* | stop_gained | 0.99 | 0 |
17:7673777:T | D281E | missense_variant | 0.99 | 0 |
17:7674239:C | C242G | missense_variant | 0.99 | 0 |
17:7675121:A | K164M | missense_variant | 0.99 | 0 |
17:7675121:C | K164R | missense_variant | 0.99 | 0 |
17:7675121:G | K164T | missense_variant | 0.99 | 0 |
17:7675122:G | K164Q | missense_variant | 0.99 | 0 |
17:7676185:A | E62* | stop_gained | 0.99 | 0 |
17:7676578:T | S6* | stop_gained | 0.99 | 0 |
17:7676578:C | S6* | stop_gained | 0.99 | 0 |
17:7675066:T | C182* | stop_gained | 0.99 | 0 |
17:7674237:C | C242W | missense_variant | 0.99 | 0 |
17:7673795:C | C275W | missense_variant | 0.99 | 0 |
17:7674247:G | N239T | missense_variant | 0.99 | 0 |
17:7674254:G | M237L | missense_variant | 0.99 | 0 |
17:7674254:C | M237V | missense_variant | 0.99 | 0 |
17:7674254:A | M237L | missense_variant | 0.99 | 0 |
17:7674248:G | N239H | missense_variant | 0.99 | 0 |
17:7674248:C | N239D | missense_variant | 0.99 | 0 |
17:7674247:A | N239I | missense_variant | 0.99 | 0 |
17:7674954:T | H193N | missense_variant | 0.99 | 0 |
17:7674954:C | H193D | missense_variant | 0.99 | 0 |
17:7674249:C | C238W | missense_variant | 0.99 | 0 |
17:7674212:C | I251V | missense_variant | 0.99 | 0 |
17:7674212:A | I251F | missense_variant | 0.99 | 0 |
17:7674212:G | I251L | missense_variant | 0.99 | 0 |
17:7674205:A | T253I | missense_variant | 0.99 | 0 |
17:7674205:C | T253S | missense_variant | 0.99 | 0 |
17:7674246:T | N239K | missense_variant | 0.99 | 0 |
17:7674246:C | N239K | missense_variant | 0.99 | 0 |
17:7675064:C | S183* | stop_gained | 0.99 | 0 |
17:7675064:T | S183* | stop_gained | 0.99 | 0 |
17:7674914:T | L206* | stop_gained | 0.99 | 0 |
17:7674891:T | H214N | missense_variant | 0.99 | 0 |
17:7674891:A | H214Y | missense_variant | 0.99 | 0 |
17:7674891:C | H214D | missense_variant | 0.99 | 0 |
17:7673570:A | K320* | stop_gained | 0.99 | 0 |
17:7675120:G | K164N | missense_variant | 0.98 | 0 |
17:7675120:A | K164N | missense_variant | 0.98 | 0 |
17:7674969:A | L188L | splice_region_variant | 0.98 | 0 |
17:7674269:A | I232F | missense_variant | 0.98 | 0 |
17:7674269:C | I232V | missense_variant | 0.98 | 0 |
17:7674269:G | I232L | missense_variant | 0.98 | 0 |
17:7675130:C | A161G | missense_variant | 0.98 | 0 |
17:7675157:C | P152R | missense_variant | 0.98 | 0 |
17:7675077:T | H179N | missense_variant | 0.98 | 0 |
17:7675082:T | P177H | missense_variant | 0.98 | 0 |
17:7675082:A | P177L | missense_variant | 0.98 | 0 |
17:7675083:A | P177S | missense_variant | 0.98 | 0 |
17:7675083:C | P177A | missense_variant | 0.98 | 0 |
17:7675158:T | P152T | missense_variant | 0.98 | 0 |
17:7675158:C | P152A | missense_variant | 0.98 | 0 |
17:7675083:T | P177T | missense_variant | 0.98 | 0 |
17:7675158:A | P152S | missense_variant | 0.98 | 0 |
17:7675157:T | P152Q | missense_variant | 0.98 | 0 |
17:7675130:A | A161V | missense_variant | 0.98 | 0 |
17:7673805:T | V272E | missense_variant | 0.98 | 0 |
17:7673805:G | V272A | missense_variant | 0.98 | 0 |
17:7673789:C | C277W | missense_variant | 0.98 | 0 |
17:7669668:A | Q375* | stop_gained | 0.98 | 0 |
17:7674216:G | R249S | missense_variant | 0.98 | 0 |
17:7676591:A | E2* | stop_gained | 0.98 | 0 |
17:7676028:T | L114* | stop_gained | 0.97 | 0 |
17:7673746:A | K292* | stop_gained | 0.97 | 0 |
17:7673702:G | R306R | splice_region_variant | 0.97 | 0 |
17:7673702:A | R306R | splice_region_variant | 0.97 | 0 |
17:7673702:C | R306R | splice_region_variant | 0.97 | 0 |
17:7674215:A | P250S | missense_variant | 0.97 | 0 |
17:7674215:C | P250A | missense_variant | 0.97 | 0 |
17:7674214:C | P250R | missense_variant | 0.97 | 0 |
17:7674215:T | P250T | missense_variant | 0.97 | 0 |
17:7674214:T | P250H | missense_variant | 0.97 | 0 |
17:7673810:T | F270L | missense_variant | 0.97 | 0 |
17:7673810:C | F270L | missense_variant | 0.97 | 0 |
17:7674189:A | E258D | missense_variant | 0.97 | 0 |
17:7674189:G | E258D | missense_variant | 0.97 | 0 |
17:7673827:C | L265V | missense_variant | 0.97 | 0 |
17:7673827:T | L265M | missense_variant | 0.97 | 0 |
17:7670649:A | Q354* | stop_gained | 0.97 | 0 |
17:7673767:A | E285* | stop_gained | 0.97 | 0 |
17:7675224:A | L130F | missense_variant | 0.96 | 0 |
17:7675224:T | L130I | missense_variant | 0.96 | 0 |
17:7674944:A | R196L | missense_variant | 0.96 | 0 |
17:7674944:T | R196Q | missense_variant | 0.96 | 0 |
17:7675101:A | E171* | stop_gained | 0.96 | 0 |
17:7674936:A | G199* | stop_gained | 0.96 | 0 |
17:7675146:C | R156G | missense_variant | 0.96 | 0 |
17:7675146:A | R156C | missense_variant | 0.96 | 0 |
17:7675146:T | R156S | missense_variant | 0.96 | 0 |
17:7676522:A | L25L | splice_region_variant | 0.96 | 0 |
17:7676546:A | E17* | stop_gained | 0.96 | 0 |
17:7675221:C | N131D | missense_variant | 0.96 | 0 |
17:7675221:G | N131H | missense_variant | 0.96 | 0 |
17:7675220:C | N131S | missense_variant | 0.96 | 0 |
17:7675220:G | N131T | missense_variant | 0.96 | 0 |
17:7675221:A | N131Y | missense_variant | 0.96 | 0 |
17:7675075:C | H179Q | missense_variant | 0.96 | 0 |
17:7675995:T | T125K | missense_variant | 0.96 | 0 |
17:7675995:C | T125R | missense_variant | 0.96 | 0 |
17:7669629:A | E388* | stop_gained | 0.96 | 0 |
17:7676384:A | L32L | splice_region_variant | 0.96 | 0 |
17:7674206:A | T253S | missense_variant | 0.96 | 0 |
17:7676582:A | Q5* | stop_gained | 0.96 | 0 |
17:7676564:A | E11* | stop_gained | 0.95 | 0 |
17:7675199:C | A138G | missense_variant | 0.95 | 0 |
17:7675199:T | A138D | missense_variant | 0.95 | 0 |
17:7676203:A | E56* | stop_gained | 0.95 | 0 |
17:7675232:C | S127C | missense_variant | 0.95 | 0 |
17:7675223:G | L130P | missense_variant | 0.95 | 0 |
17:7675223:C | L130R | missense_variant | 0.95 | 0 |
17:7673555:A | G325* | stop_gained | 0.95 | 0 |
17:7674194:T | L257M | missense_variant | 0.95 | 0 |
17:7674194:C | L257V | missense_variant | 0.95 | 0 |
17:7674210:C | I251M | missense_variant | 0.95 | 0 |
17:7675218:G | K132Q | missense_variant | 0.95 | 0 |
17:7675217:G | K132T | missense_variant | 0.95 | 0 |
17:7676060:T | Y103* | stop_gained | 0.95 | 0 |
17:7676060:C | Y103* | stop_gained | 0.95 | 0 |
17:7676536:T | S20* | stop_gained | 0.94 | 0 |
17:7676536:C | S20* | stop_gained | 0.94 | 0 |
17:7675182:A | Q144* | stop_gained | 0.94 | 0 |
17:7675197:A | K139* | stop_gained | 0.94 | 0 |
17:7675200:T | A138T | missense_variant | 0.94 | 0 |
17:7675200:A | A138S | missense_variant | 0.94 | 0 |
17:7675208:G | C135S | missense_variant | 0.94 | 0 |
17:7676055:T | G105D | missense_variant | 0.94 | 0 |
17:7676055:A | G105V | missense_variant | 0.94 | 0 |
17:7676056:T | G105S | missense_variant | 0.94 | 0 |
17:7676055:G | G105A | missense_variant | 0.94 | 0 |
17:7674861:A | E224* | stop_gained | 0.93 | 0 |
17:7676048:T | Y107* | stop_gained | 0.93 | 0 |
17:7676048:C | Y107* | stop_gained | 0.93 | 0 |
17:7676088:C | S94* | stop_gained | 0.93 | 0 |
17:7676088:T | S94* | stop_gained | 0.93 | 0 |
17:7670673:A | E346* | stop_gained | 0.93 | 0 |
17:7676549:A | Q16* | stop_gained | 0.93 | 0 |
17:7675113:A | Q167* | stop_gained | 0.93 | 0 |
17:7676011:A | K120* | stop_gained | 0.92 | 0 |
17:7675212:T | F134I | missense_variant | 0.92 | 0 |
17:7675178:G | L145P | missense_variant | 0.92 | 0 |
17:7675209:C | C135G | missense_variant | 0.92 | 0 |
17:7675209:G | C135R | missense_variant | 0.92 | 0 |
17:7675209:T | C135S | missense_variant | 0.92 | 0 |
17:7675212:G | F134L | missense_variant | 0.92 | 0 |
17:7670666:T | L348* | stop_gained | 0.92 | 0 |
17:7675233:C | S127A | missense_variant | 0.91 | 0 |
17:7675233:G | S127P | missense_variant | 0.91 | 0 |
17:7675233:T | S127T | missense_variant | 0.91 | 0 |
17:7674946:C | I195M | missense_variant | 0.91 | 0 |
17:7676526:T | W23* | stop_gained | 0.91 | 0 |
17:7675996:G | T125P | missense_variant | 0.91 | 0 |
17:7675996:A | T125S | missense_variant | 0.91 | 0 |
17:7675996:C | T125A | missense_variant | 0.91 | 0 |
17:7676588:A | E3* | stop_gained | 0.91 | 0 |
17:7675234:A | Y126Y | splice_region_variant | 0.91 | 0 |
17:7675074:A | E180* | stop_gained | 0.90 | 0 |
17:7673800:T | V274I | missense_variant | 0.90 | 0 |
17:7673800:G | V274L | missense_variant | 0.90 | 0 |
17:7673800:A | V274F | missense_variant | 0.90 | 0 |
17:7675172:T | V147D | missense_variant | 0.90 | 0 |
17:7675172:G | V147A | missense_variant | 0.90 | 0 |
17:7673761:A | E287* | stop_gained | 0.90 | 0 |
17:7676241:T | L43* | stop_gained | 0.89 | 0 |
17:7674945:C | R196G | missense_variant | 0.89 | 0 |
17:7670640:A | K357* | stop_gained | 0.89 | 0 |
17:7674276:T | C229* | stop_gained | 0.88 | 0 |
17:7676176:A | R65* | stop_gained | 0.87 | 0 |
17:7676527:T | W23* | stop_gained | 0.87 | 0 |
17:7673780:G | R280S | missense_variant | 0.86 | 0 |
17:7673780:A | R280S | missense_variant | 0.86 | 0 |
17:7675115:C | S166* | stop_gained | 0.85 | 0 |
17:7675115:T | S166* | stop_gained | 0.85 | 0 |
17:7674183:C | S260S | splice_region_variant | 0.85 | 0 |
17:7674183:A | S260S | splice_region_variant | 0.85 | 0 |
17:7674183:T | S260S | splice_region_variant | 0.85 | 0 |
17:7675216:G | K132N | missense_variant | 0.84 | 0 |
17:7669616:T | S392* | stop_gained | 0.84 | 0 |
17:7669616:C | S392* | stop_gained | 0.84 | 0 |
17:7670637:A | E358* | stop_gained | 0.83 | 0 |
17:7669635:A | K386* | stop_gained | 0.83 | 0 |
17:7669647:A | K382* | stop_gained | 0.83 | 0 |
17:7669677:A | K372* | stop_gained | 0.83 | 0 |
17:7669683:A | K370* | stop_gained | 0.83 | 0 |
17:7669674:A | K373* | stop_gained | 0.83 | 0 |
17:7669650:A | K381* | stop_gained | 0.82 | 0 |
17:7673573:A | K319* | stop_gained | 0.81 | 0 |
17:7674952:T | H193Q | missense_variant | 0.79 | 0 |
17:7674952:C | H193Q | missense_variant | 0.79 | 0 |
17:7675211:T | F134Y | missense_variant | 0.78 | 0 |
17:7675211:G | F134S | missense_variant | 0.78 | 0 |
17:7674886:T | S215R | missense_variant | 0.78 | 0 |
17:7674889:C | H214Q | missense_variant | 0.72 | 0 |
17:7674889:T | H214Q | missense_variant | 0.72 | 0 |
17:7674906:A | R209* | stop_gained | 0.70 | 0 |
17:7676040:T | R110H | missense_variant | 0.64 | 0 |
17:7676040:G | R110P | missense_variant | 0.64 | 0 |
17:7674225:A | M246I | missense_variant | 0.63 | 0 |
17:7674225:T | M246I | missense_variant | 0.63 | 0 |
17:7674225:G | M246I | missense_variant | 0.63 | 0 |
17:7676211:T | W53* | stop_gained | 0.59 | 0 |
17:7674929:T | L201* | stop_gained | 0.59 | 0 |
17:7676257:A | Q38* | stop_gained | 0.58 | 0 |
17:7676396:A | E28* | stop_gained | 0.58 | 0 |
17:7673728:A | E298* | stop_gained | 0.58 | 0 |
17:7675173:A | V147F | missense_variant | 0.57 | 0 |
17:7675173:T | V147I | missense_variant | 0.57 | 0 |
17:7675173:G | V147L | missense_variant | 0.57 | 0 |
17:7676215:A | Q52* | stop_gained | 0.57 | 0 |
17:7675207:C | C135W | missense_variant | 0.56 | 0 |
17:7675210:T | F134L | missense_variant | 0.56 | 0 |
17:7675210:C | F134L | missense_variant | 0.56 | 0 |
17:7670611:A | S366S | splice_region_variant | 0.55 | 0 |
17:7670611:C | S366S | splice_region_variant | 0.55 | 0 |
17:7670611:T | S366S | splice_region_variant | 0.55 | 0 |
17:7675179:T | L145M | missense_variant | 0.53 | 0 |
17:7675179:C | L145V | missense_variant | 0.53 | 0 |
17:7676167:A | E68* | stop_gained | 0.53 | 0 |
17:7676265:T | L35* | stop_gained | 0.53 | 0 |
17:7675139:A | R158L | missense_variant | 0.52 | 0 |
17:7675139:G | R158P | missense_variant | 0.52 | 0 |
17:7675101:T | E171K | missense_variant | 0.52 | 0 |
17:7675101:G | E171Q | missense_variant | 0.52 | 0 |
17:7674226:G | M246T | missense_variant | 0.50 | 0 |
17:7674226:C | M246R | missense_variant | 0.50 | 0 |
17:7674226:T | M246K | missense_variant | 0.50 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(OV) Ovary cancer | OV | 0.63 | 0.41 |