Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
17:7675088:T | R175H | missense_variant | 1.00 | 15 |
17:7673776:A | R282W | missense_variant | 1.00 | 14 |
17:7674220:T | R248Q | missense_variant | 1.00 | 13 |
17:7674945:A | R196* | stop_gained | 1.00 | 11 |
17:7674872:C | Y220C | missense_variant | 1.00 | 10 |
17:7674221:A | R248W | missense_variant | 1.00 | 10 |
17:7673802:T | R273H | missense_variant | 1.00 | 10 |
17:7674894:A | R213* | stop_gained | 1.00 | 9 |
17:7673704:A | R306* | stop_gained | 1.00 | 9 |
17:7674230:T | G245S | missense_variant | 1.00 | 9 |
17:7674953:A | H193L | missense_variant | 1.00 | 8 |
17:7675076:C | H179R | missense_variant | 1.00 | 7 |
17:7674957:A | Q192* | stop_gained | 1.00 | 7 |
17:7675124:C | Y163C | missense_variant | 1.00 | 7 |
17:7673728:A | E298* | stop_gained | 0.99 | 7 |
17:7673803:A | R273C | missense_variant | 1.00 | 6 |
17:7676040:A | R110L | missense_variant | 1.00 | 6 |
17:7675143:A | V157F | missense_variant | 0.97 | 5 |
17:7675095:T | V173M | missense_variant | 1.00 | 4 |
17:7673740:A | E294* | stop_gained | 1.00 | 4 |
17:7673772:G | R283P | missense_variant | 1.00 | 4 |
17:7670700:A | R337C | missense_variant | 1.00 | 4 |
17:7673788:A | P278S | missense_variant | 0.99 | 4 |
17:7674256:C | Y236C | missense_variant | 0.98 | 4 |
17:7675085:T | C176Y | missense_variant | 1.00 | 3 |
17:7673823:T | G266E | missense_variant | 1.00 | 3 |
17:7673767:T | E285K | missense_variant | 1.00 | 3 |
17:7676203:A | E56* | stop_gained | 1.00 | 3 |
17:7675077:A | H179Y | missense_variant | 1.00 | 3 |
17:7675206:A | Q136* | stop_gained | 1.00 | 3 |
17:7673806:A | V272L | missense_variant | 1.00 | 2 |
17:7673806:T | V272M | missense_variant | 1.00 | 2 |
17:7675076:A | H179L | missense_variant | 1.00 | 2 |
17:7675109:A | H168L | missense_variant | 1.00 | 2 |
17:7675139:A | R158L | missense_variant | 1.00 | 2 |
17:7675139:T | R158H | missense_variant | 1.00 | 2 |
17:7675095:A | V173L | missense_variant | 1.00 | 2 |
17:7674893:A | R213L | missense_variant | 1.00 | 2 |
17:7673535:T | Q331Q | splice_region_variant | 1.00 | 2 |
17:7675085:A | C176F | missense_variant | 1.00 | 2 |
17:7675137:G | A159P | missense_variant | 1.00 | 2 |
17:7674229:T | G245D | missense_variant | 1.00 | 2 |
17:7674229:A | G245V | missense_variant | 1.00 | 2 |
17:7673781:T | R280K | missense_variant | 1.00 | 2 |
17:7673809:T | E271K | missense_variant | 1.00 | 2 |
17:7673796:A | C275F | missense_variant | 1.00 | 2 |
17:7673781:G | R280T | missense_variant | 1.00 | 2 |
17:7673537:A | Q331* | stop_gained | 1.00 | 2 |
17:7674250:A | C238F | missense_variant | 1.00 | 2 |
17:7674252:T | M237I | missense_variant | 1.00 | 2 |
17:7676068:A | K101* | stop_gained | 1.00 | 2 |
17:7675161:A | P151S | missense_variant | 1.00 | 2 |
17:7675161:T | P151T | missense_variant | 1.00 | 2 |
17:7674238:A | C242F | missense_variant | 1.00 | 2 |
17:7674917:C | Y205C | missense_variant | 1.00 | 2 |
17:7673782:C | R280G | missense_variant | 1.00 | 2 |
17:7674953:G | H193P | missense_variant | 1.00 | 2 |
17:7674948:A | I195F | missense_variant | 1.00 | 2 |
17:7674954:A | H193Y | missense_variant | 1.00 | 2 |
17:7674929:T | L201* | stop_gained | 0.99 | 2 |
17:7675101:A | E171* | stop_gained | 0.99 | 2 |
17:7670685:A | R342* | stop_gained | 0.99 | 2 |
17:7676167:A | E68* | stop_gained | 0.99 | 2 |
17:7674944:G | R196P | missense_variant | 0.99 | 2 |
17:7674916:T | Y205* | stop_gained | 0.99 | 2 |
17:7676055:A | G105V | missense_variant | 0.99 | 2 |
17:7675182:A | Q144* | stop_gained | 0.99 | 2 |
17:7674216:A | R249S | missense_variant | 0.99 | 2 |
17:7673824:A | G266* | stop_gained | 0.99 | 2 |
17:7670699:A | R337L | missense_variant | 0.99 | 2 |
17:7675113:A | Q167* | stop_gained | 0.99 | 2 |
17:7675185:T | V143M | missense_variant | 0.98 | 2 |
17:7674254:C | M237V | missense_variant | 0.98 | 2 |
17:7674262:C | Y234C | missense_variant | 0.98 | 2 |
17:7674947:G | I195T | missense_variant | 0.98 | 2 |
17:7674878:C | V218G | missense_variant | 0.98 | 2 |
17:7674257:C | Y236D | missense_variant | 0.98 | 2 |
17:7676051:C | S106R | missense_variant | 0.90 | 2 |
17:7674859:T | E224E | splice_region_variant | 1.00 | 1 |
17:7675076:G | H179P | missense_variant | 1.00 | 1 |
17:7675095:G | V173L | missense_variant | 1.00 | 1 |
17:7674893:G | R213P | missense_variant | 1.00 | 1 |
17:7674921:A | E204* | stop_gained | 1.00 | 1 |
17:7675085:G | C176S | missense_variant | 1.00 | 1 |
17:7675098:A | V172F | missense_variant | 1.00 | 1 |
17:7674230:A | G245C | missense_variant | 1.00 | 1 |
17:7674232:A | G244V | missense_variant | 1.00 | 1 |
17:7674225:G | M246I | missense_variant | 1.00 | 1 |
17:7674225:T | M246I | missense_variant | 1.00 | 1 |
17:7674190:G | E258A | missense_variant | 1.00 | 1 |
17:7673824:T | G266R | missense_variant | 1.00 | 1 |
17:7673764:T | E286K | missense_variant | 1.00 | 1 |
17:7673764:G | E286Q | missense_variant | 1.00 | 1 |
17:7673796:T | C275Y | missense_variant | 1.00 | 1 |
17:7673779:A | D281Y | missense_variant | 1.00 | 1 |
17:7673772:T | R283H | missense_variant | 1.00 | 1 |
17:7674885:T | V216M | missense_variant | 1.00 | 1 |
17:7675074:T | E180K | missense_variant | 1.00 | 1 |
17:7673763:A | E286V | missense_variant | 1.00 | 1 |
17:7673811:C | F270C | missense_variant | 1.00 | 1 |
17:7670703:A | E336* | stop_gained | 1.00 | 1 |
17:7674233:T | G244S | missense_variant | 1.00 | 1 |
17:7674238:T | C242Y | missense_variant | 1.00 | 1 |
17:7676059:A | Q104* | stop_gained | 1.00 | 1 |
17:7676097:T | W91* | stop_gained | 1.00 | 1 |
17:7674217:A | R249M | missense_variant | 1.00 | 1 |
17:7674217:T | R249K | missense_variant | 1.00 | 1 |
17:7675077:T | H179N | missense_variant | 1.00 | 1 |
17:7670682:A | E343* | stop_gained | 1.00 | 1 |
17:7675190:A | C141F | missense_variant | 1.00 | 1 |
17:7675190:T | C141Y | missense_variant | 1.00 | 1 |
17:7670694:A | E339* | stop_gained | 1.00 | 1 |
17:7674870:A | E221* | stop_gained | 1.00 | 1 |
17:7674953:C | H193R | missense_variant | 1.00 | 1 |
17:7675145:G | R156P | missense_variant | 0.99 | 1 |
17:7675235:G | Y126S | missense_variant | 0.99 | 1 |
17:7675235:C | Y126C | missense_variant | 0.99 | 1 |
17:7675160:T | P151H | missense_variant | 0.99 | 1 |
17:7676257:A | Q38* | stop_gained | 0.99 | 1 |
17:7675136:A | A159V | missense_variant | 0.99 | 1 |
17:7675205:G | Q136P | missense_variant | 0.99 | 1 |
17:7673821:C | R267G | missense_variant | 0.99 | 1 |
17:7674936:A | G199* | stop_gained | 0.99 | 1 |
17:7675131:T | A161T | missense_variant | 0.99 | 1 |
17:7676215:A | Q52* | stop_gained | 0.99 | 1 |
17:7673788:C | P278A | missense_variant | 0.99 | 1 |
17:7673787:A | P278L | missense_variant | 0.99 | 1 |
17:7673793:T | A276D | missense_variant | 0.99 | 1 |
17:7675200:G | A138P | missense_variant | 0.99 | 1 |
17:7676056:A | G105C | missense_variant | 0.99 | 1 |
17:7674216:G | R249S | missense_variant | 0.99 | 1 |
17:7673767:A | E285* | stop_gained | 0.99 | 1 |
17:7673764:A | E286* | stop_gained | 0.99 | 1 |
17:7674251:T | C238S | missense_variant | 0.98 | 1 |
17:7674248:C | N239D | missense_variant | 0.98 | 1 |
17:7675995:A | T125M | missense_variant | 0.98 | 1 |
17:7674950:C | L194R | missense_variant | 0.98 | 1 |
17:7674950:G | L194P | missense_variant | 0.98 | 1 |
17:7675206:C | Q136E | missense_variant | 0.98 | 1 |
17:7673808:A | E271V | missense_variant | 0.98 | 1 |
17:7675232:A | S127F | missense_variant | 0.98 | 1 |
17:7675232:T | S127Y | missense_variant | 0.98 | 1 |
17:7673780:G | R280S | missense_variant | 0.98 | 1 |
17:7673780:A | R280S | missense_variant | 0.98 | 1 |
17:7674241:C | S241C | missense_variant | 0.97 | 1 |
17:7676088:T | S94* | stop_gained | 0.96 | 1 |
17:7674189:A | E258D | missense_variant | 0.96 | 1 |
17:7675204:A | Q136H | missense_variant | 0.96 | 1 |
17:7670666:G | L348S | missense_variant | 0.95 | 1 |
17:7675125:G | Y163H | missense_variant | 0.95 | 1 |
17:7675094:C | V173G | missense_variant | 0.95 | 1 |
17:7676060:C | Y103* | stop_gained | 0.95 | 1 |
17:7674211:T | I251N | missense_variant | 0.95 | 1 |
17:7675115:C | S166* | stop_gained | 0.94 | 1 |
17:7675212:C | F134V | missense_variant | 0.94 | 1 |
17:7675202:T | L137Q | missense_variant | 0.94 | 1 |
17:7675214:T | M133K | missense_variant | 0.94 | 1 |
17:7673791:C | C277G | missense_variant | 0.94 | 1 |
17:7673826:C | L265R | missense_variant | 0.94 | 1 |
17:7674188:T | D259N | missense_variant | 0.93 | 1 |
17:7673761:A | E287* | stop_gained | 0.93 | 1 |
17:7675216:G | K132N | missense_variant | 0.92 | 1 |
17:7674239:T | C242S | missense_variant | 0.92 | 1 |
17:7675123:C | Y163* | stop_gained | 0.92 | 1 |
17:7670686:C | F341L | missense_variant | 0.75 | 1 |
17:7675088:G | R175P | missense_variant | 1.00 | 0 |
17:7675088:A | R175L | missense_variant | 1.00 | 0 |
17:7674872:G | Y220S | missense_variant | 1.00 | 0 |
17:7674872:A | Y220F | missense_variant | 1.00 | 0 |
17:7674220:A | R248L | missense_variant | 1.00 | 0 |
17:7674220:G | R248P | missense_variant | 1.00 | 0 |
17:7673806:G | V272L | missense_variant | 1.00 | 0 |
17:7675109:C | H168R | missense_variant | 1.00 | 0 |
17:7675109:G | H168P | missense_variant | 1.00 | 0 |
17:7675124:G | Y163S | missense_variant | 1.00 | 0 |
17:7675124:A | Y163F | missense_variant | 1.00 | 0 |
17:7673790:A | C277F | 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:T | R282Q | missense_variant | 1.00 | 0 |
17:7673775:G | R282P | missense_variant | 1.00 | 0 |
17:7673775:A | R282L | missense_variant | 1.00 | 0 |
17:7673803:T | R273S | missense_variant | 1.00 | 0 |
17:7673803:C | R273G | missense_variant | 1.00 | 0 |
17:7675139:G | R158P | missense_variant | 1.00 | 0 |
17:7674893:T | R213Q | missense_variant | 1.00 | 0 |
17:7675174:T | W146* | stop_gained | 1.00 | 0 |
17:7674221:C | R248G | missense_variant | 1.00 | 0 |
17:7674894:C | R213G | missense_variant | 1.00 | 0 |
17:7673552:A | E326* | stop_gained | 1.00 | 0 |
17:7675098:G | V172L | missense_variant | 1.00 | 0 |
17:7675098:T | V172I | missense_variant | 1.00 | 0 |
17:7673776:C | R282G | missense_variant | 1.00 | 0 |
17:7675137:T | A159T | missense_variant | 1.00 | 0 |
17:7675137:A | A159S | missense_variant | 1.00 | 0 |
17:7674232:G | G244A | missense_variant | 1.00 | 0 |
17:7674229:G | G245A | missense_variant | 1.00 | 0 |
17:7674225:A | M246I | missense_variant | 1.00 | 0 |
17:7674230:G | G245R | missense_variant | 1.00 | 0 |
17:7674232:T | G244D | missense_variant | 1.00 | 0 |
17:7676040:T | R110H | missense_variant | 1.00 | 0 |
17:7676040:G | R110P | missense_variant | 1.00 | 0 |
17:7674190:C | E258G | missense_variant | 1.00 | 0 |
17:7674190:A | E258V | missense_variant | 1.00 | 0 |
17:7673802:A | R273L | missense_variant | 1.00 | 0 |
17:7673794:A | A276S | missense_variant | 1.00 | 0 |
17:7673794:G | A276P | missense_variant | 1.00 | 0 |
17:7673794:T | A276T | missense_variant | 1.00 | 0 |
17:7673796:G | C275S | missense_variant | 1.00 | 0 |
17:7673781:A | R280I | missense_variant | 1.00 | 0 |
17:7673802:G | R273P | missense_variant | 1.00 | 0 |
17:7673779:T | D281N | missense_variant | 1.00 | 0 |
17:7673779:G | D281H | missense_variant | 1.00 | 0 |
17:7673809:G | E271Q | missense_variant | 1.00 | 0 |
17:7673820:A | R267L | missense_variant | 1.00 | 0 |
17:7673820:G | R267P | missense_variant | 1.00 | 0 |
17:7673820:T | R267Q | missense_variant | 1.00 | 0 |
17:7673823:A | G266V | missense_variant | 1.00 | 0 |
17:7673823:G | G266A | missense_variant | 1.00 | 0 |
17:7673824:G | G266R | missense_variant | 1.00 | 0 |
17:7673767:G | E285Q | missense_variant | 1.00 | 0 |
17:7673772:A | R283L | missense_variant | 1.00 | 0 |
17:7674885:G | V216L | missense_variant | 1.00 | 0 |
17:7674885:A | V216L | missense_variant | 1.00 | 0 |
17:7675074:G | E180Q | missense_variant | 1.00 | 0 |
17:7675234:C | Y126* | stop_gained | 1.00 | 0 |
17:7675234:T | Y126* | stop_gained | 1.00 | 0 |
17:7674252:A | M237I | missense_variant | 1.00 | 0 |
17:7674250:T | C238Y | missense_variant | 1.00 | 0 |
17:7674252:G | M237I | missense_variant | 1.00 | 0 |
17:7674250:G | C238S | missense_variant | 1.00 | 0 |
17:7675997:T | C124* | stop_gained | 1.00 | 0 |
17:7673763:C | E286G | missense_variant | 1.00 | 0 |
17:7673763:G | E286A | missense_variant | 1.00 | 0 |
17:7673547:C | Y327* | stop_gained | 1.00 | 0 |
17:7673547:T | Y327* | stop_gained | 1.00 | 0 |
17:7673811:T | F270Y | missense_variant | 1.00 | 0 |
17:7673811:G | F270S | missense_variant | 1.00 | 0 |
17:7675161:C | P151A | missense_variant | 1.00 | 0 |
17:7674233:G | G244R | missense_variant | 1.00 | 0 |
17:7674233:A | G244C | missense_variant | 1.00 | 0 |
17:7674238:G | C242S | missense_variant | 1.00 | 0 |
17:7674917:A | Y205F | missense_variant | 1.00 | 0 |
17:7674917:G | Y205S | missense_variant | 1.00 | 0 |
17:7675189:T | C141* | stop_gained | 1.00 | 0 |
17:7676096:T | W91* | stop_gained | 1.00 | 0 |
17:7673570:A | K320* | stop_gained | 1.00 | 0 |
17:7674217:G | R249T | missense_variant | 1.00 | 0 |
17:7673773:C | R283G | missense_variant | 1.00 | 0 |
17:7673773:A | R283C | missense_variant | 1.00 | 0 |
17:7673773:T | R283S | missense_variant | 1.00 | 0 |
17:7674906:A | R209* | stop_gained | 1.00 | 0 |
17:7669668:A | Q375* | stop_gained | 1.00 | 0 |
17:7674914:T | L206* | stop_gained | 1.00 | 0 |
17:7674946:C | I195M | missense_variant | 1.00 | 0 |
17:7670700:T | R337S | missense_variant | 1.00 | 0 |
17:7670700:C | R337G | missense_variant | 1.00 | 0 |
17:7669690:A | S367S | splice_region_variant | 1.00 | 0 |
17:7676525:A | K24* | stop_gained | 1.00 | 0 |
17:7675077:C | H179D | missense_variant | 1.00 | 0 |
17:7673579:A | Q317* | stop_gained | 1.00 | 0 |
17:7676185:A | E62* | stop_gained | 1.00 | 0 |
17:7676591:A | E2* | stop_gained | 1.00 | 0 |
17:7674945:C | R196G | missense_variant | 1.00 | 0 |
17:7673807:A | E271D | missense_variant | 1.00 | 0 |
17:7673807:G | E271D | missense_variant | 1.00 | 0 |
17:7675190:G | C141S | missense_variant | 1.00 | 0 |
17:7674918:T | Y205N | missense_variant | 1.00 | 0 |
17:7674918:G | Y205H | missense_variant | 1.00 | 0 |
17:7674918:C | Y205D | missense_variant | 1.00 | 0 |
17:7674191:T | E258K | missense_variant | 1.00 | 0 |
17:7674191:G | E258Q | missense_variant | 1.00 | 0 |
17:7676382:A | L32L | splice_region_variant | 1.00 | 0 |
17:7676382:G | L32L | splice_region_variant | 1.00 | 0 |
17:7676382:T | L32L | splice_region_variant | 1.00 | 0 |
17:7674873:T | Y220N | missense_variant | 1.00 | 0 |
17:7674873:C | Y220D | missense_variant | 1.00 | 0 |
17:7674873:G | Y220H | missense_variant | 1.00 | 0 |
17:7675207:T | C135* | stop_gained | 1.00 | 0 |
17:7676071:A | Q100* | stop_gained | 1.00 | 0 |
17:7670649:A | Q354* | stop_gained | 1.00 | 0 |
17:7674948:G | I195L | missense_variant | 1.00 | 0 |
17:7674948:C | I195V | missense_variant | 1.00 | 0 |
17:7676546:A | E17* | stop_gained | 1.00 | 0 |
17:7674954:C | H193D | missense_variant | 1.00 | 0 |
17:7674954:T | H193N | missense_variant | 1.00 | 0 |
17:7675175:T | W146* | stop_gained | 1.00 | 0 |
17:7669629:A | E388* | stop_gained | 1.00 | 0 |
17:7676564:A | E11* | stop_gained | 1.00 | 0 |
17:7676048:C | Y107* | stop_gained | 0.99 | 0 |
17:7676048:T | Y107* | stop_gained | 0.99 | 0 |
17:7675145:A | R156L | missense_variant | 0.99 | 0 |
17:7675145:T | R156H | missense_variant | 0.99 | 0 |
17:7675084:T | C176* | stop_gained | 0.99 | 0 |
17:7676526:T | W23* | stop_gained | 0.99 | 0 |
17:7676582:A | Q5* | stop_gained | 0.99 | 0 |
17:7675235:A | Y126F | missense_variant | 0.99 | 0 |
17:7675089:T | R175S | missense_variant | 0.99 | 0 |
17:7675089:A | R175C | missense_variant | 0.99 | 0 |
17:7675089:C | R175G | missense_variant | 0.99 | 0 |
17:7675130:C | A161G | missense_variant | 0.99 | 0 |
17:7675130:T | A161D | missense_variant | 0.99 | 0 |
17:7675130:A | A161V | missense_variant | 0.99 | 0 |
17:7676396:A | E28* | stop_gained | 0.99 | 0 |
17:7675160:A | P151L | missense_variant | 0.99 | 0 |
17:7675160:C | P151R | missense_variant | 0.99 | 0 |
17:7674951:C | L194V | missense_variant | 0.99 | 0 |
17:7674951:A | L194F | missense_variant | 0.99 | 0 |
17:7674951:T | L194I | missense_variant | 0.99 | 0 |
17:7676241:T | L43* | stop_gained | 0.99 | 0 |
17:7675136:C | A159G | missense_variant | 0.99 | 0 |
17:7675136:T | A159D | missense_variant | 0.99 | 0 |
17:7670640:A | K357* | stop_gained | 0.99 | 0 |
17:7675205:A | Q136L | missense_variant | 0.99 | 0 |
17:7675205:C | Q136R | missense_variant | 0.99 | 0 |
17:7674939:A | E198* | stop_gained | 0.99 | 0 |
17:7675073:G | E180A | missense_variant | 0.99 | 0 |
17:7675073:A | E180V | missense_variant | 0.99 | 0 |
17:7675073:C | E180G | missense_variant | 0.99 | 0 |
17:7673821:A | R267W | missense_variant | 0.99 | 0 |
17:7675199:A | A138V | missense_variant | 0.99 | 0 |
17:7675199:T | A138D | missense_variant | 0.99 | 0 |
17:7675199:C | A138G | missense_variant | 0.99 | 0 |
17:7670658:A | K351* | stop_gained | 0.99 | 0 |
17:7673777:T | D281E | missense_variant | 0.99 | 0 |
17:7673777:C | D281E | missense_variant | 0.99 | 0 |
17:7674218:A | R249W | missense_variant | 0.99 | 0 |
17:7674218:C | R249G | missense_variant | 0.99 | 0 |
17:7676265:T | L35* | stop_gained | 0.99 | 0 |
17:7675131:A | A161S | missense_variant | 0.99 | 0 |
17:7675131:G | A161P | missense_variant | 0.99 | 0 |
17:7674969:A | L188L | splice_region_variant | 0.99 | 0 |
17:7676218:A | E51* | stop_gained | 0.99 | 0 |
17:7676588:A | E3* | stop_gained | 0.99 | 0 |
17:7674944:T | R196Q | missense_variant | 0.99 | 0 |
17:7674944:A | R196L | missense_variant | 0.99 | 0 |
17:7673793:A | A276V | missense_variant | 0.99 | 0 |
17:7673793:C | A276G | missense_variant | 0.99 | 0 |
17:7673788:T | P278T | missense_variant | 0.99 | 0 |
17:7673787:T | P278H | missense_variant | 0.99 | 0 |
17:7673787:C | P278R | missense_variant | 0.99 | 0 |
17:7675200:A | A138S | missense_variant | 0.99 | 0 |
17:7675200:T | A138T | missense_variant | 0.99 | 0 |
17:7676176:A | R65* | stop_gained | 0.99 | 0 |
17:7674916:C | Y205* | stop_gained | 0.99 | 0 |
17:7676056:G | G105R | missense_variant | 0.99 | 0 |
17:7676056:T | G105S | missense_variant | 0.99 | 0 |
17:7676055:G | G105A | missense_variant | 0.99 | 0 |
17:7676055:T | G105D | missense_variant | 0.99 | 0 |
17:7676578:T | S6* | stop_gained | 0.99 | 0 |
17:7676578:C | S6* | stop_gained | 0.99 | 0 |
17:7676041:T | R110S | missense_variant | 0.99 | 0 |
17:7676041:A | R110C | missense_variant | 0.99 | 0 |
17:7676041:C | R110G | missense_variant | 0.99 | 0 |
17:7676536:T | S20* | stop_gained | 0.99 | 0 |
17:7676536:C | S20* | stop_gained | 0.99 | 0 |
17:7676210:T | W53* | stop_gained | 0.99 | 0 |
17:7676211:T | W53* | stop_gained | 0.99 | 0 |
17:7674871:C | Y220* | stop_gained | 0.99 | 0 |
17:7674871:T | Y220* | stop_gained | 0.99 | 0 |
17:7673809:A | E271* | stop_gained | 0.99 | 0 |
17:7670699:T | R337H | missense_variant | 0.99 | 0 |
17:7670699:G | R337P | missense_variant | 0.99 | 0 |
17:7675086:C | C176G | missense_variant | 0.99 | 0 |
17:7675086:T | C176S | missense_variant | 0.99 | 0 |
17:7675086:G | C176R | missense_variant | 0.99 | 0 |
17:7670666:T | L348* | stop_gained | 0.99 | 0 |
17:7673789:C | C277W | missense_variant | 0.99 | 0 |
17:7675191:T | C141S | missense_variant | 0.99 | 0 |
17:7675191:G | C141R | missense_variant | 0.99 | 0 |
17:7675191:C | C141G | missense_variant | 0.99 | 0 |
17:7673702:G | R306R | splice_region_variant | 0.99 | 0 |
17:7673702:A | R306R | splice_region_variant | 0.99 | 0 |
17:7673702:C | R306R | splice_region_variant | 0.99 | 0 |
17:7676522:A | L25L | splice_region_variant | 0.98 | 0 |
17:7675996:A | T125S | missense_variant | 0.98 | 0 |
17:7675996:C | T125A | missense_variant | 0.98 | 0 |
17:7675996:G | T125P | missense_variant | 0.98 | 0 |
17:7673749:A | K291* | stop_gained | 0.98 | 0 |
17:7675119:A | Q165* | stop_gained | 0.98 | 0 |
17:7675084:C | C176W | missense_variant | 0.98 | 0 |
17:7674212:C | I251V | missense_variant | 0.98 | 0 |
17:7674227:C | M246V | missense_variant | 0.98 | 0 |
17:7674212:A | I251F | missense_variant | 0.98 | 0 |
17:7674227:G | M246L | missense_variant | 0.98 | 0 |
17:7674212:G | I251L | missense_variant | 0.98 | 0 |
17:7674227:A | M246L | missense_variant | 0.98 | 0 |
17:7675185:A | V143L | missense_variant | 0.98 | 0 |
17:7675185:G | V143L | missense_variant | 0.98 | 0 |
17:7673795:C | C275W | missense_variant | 0.98 | 0 |
17:7675110:C | H168D | missense_variant | 0.98 | 0 |
17:7675110:A | H168Y | missense_variant | 0.98 | 0 |
17:7675110:T | H168N | missense_variant | 0.98 | 0 |
17:7674256:G | Y236S | missense_variant | 0.98 | 0 |
17:7674256:A | Y236F | missense_variant | 0.98 | 0 |
17:7674263:G | Y234H | missense_variant | 0.98 | 0 |
17:7674263:C | Y234D | missense_variant | 0.98 | 0 |
17:7674263:T | Y234N | missense_variant | 0.98 | 0 |
17:7674253:G | M237T | missense_variant | 0.98 | 0 |
17:7674253:T | M237K | missense_variant | 0.98 | 0 |
17:7674251:C | C238G | missense_variant | 0.98 | 0 |
17:7674251:G | C238R | missense_variant | 0.98 | 0 |
17:7674253:C | M237R | missense_variant | 0.98 | 0 |
17:7674248:G | N239H | missense_variant | 0.98 | 0 |
17:7674247:A | N239I | missense_variant | 0.98 | 0 |
17:7674247:G | N239T | missense_variant | 0.98 | 0 |
17:7674254:A | M237L | missense_variant | 0.98 | 0 |
17:7674247:C | N239S | missense_variant | 0.98 | 0 |
17:7674254:G | M237L | missense_variant | 0.98 | 0 |
17:7674248:A | N239Y | missense_variant | 0.98 | 0 |
17:7674262:A | Y234F | missense_variant | 0.98 | 0 |
17:7674262:G | Y234S | missense_variant | 0.98 | 0 |
17:7676028:T | L114* | stop_gained | 0.98 | 0 |
17:7675995:C | T125R | missense_variant | 0.98 | 0 |
17:7675995:T | T125K | missense_variant | 0.98 | 0 |
17:7674950:T | L194H | missense_variant | 0.98 | 0 |
17:7674947:C | I195S | missense_variant | 0.98 | 0 |
17:7674947:T | I195N | missense_variant | 0.98 | 0 |
17:7675206:T | Q136K | missense_variant | 0.98 | 0 |
17:7674878:T | V218E | missense_variant | 0.98 | 0 |
17:7674878:G | V218A | missense_variant | 0.98 | 0 |
17:7674884:G | V216A | missense_variant | 0.98 | 0 |
17:7674884:C | V216G | missense_variant | 0.98 | 0 |
17:7674884:T | V216E | missense_variant | 0.98 | 0 |
17:7675211:T | F134Y | missense_variant | 0.98 | 0 |
17:7675211:G | F134S | missense_variant | 0.98 | 0 |
17:7675211:C | F134C | missense_variant | 0.98 | 0 |
17:7673810:T | F270L | missense_variant | 0.98 | 0 |
17:7673810:C | F270L | missense_variant | 0.98 | 0 |
17:7673808:C | E271G | missense_variant | 0.98 | 0 |
17:7673808:G | E271A | missense_variant | 0.98 | 0 |
17:7673778:G | D281A | missense_variant | 0.98 | 0 |
17:7673778:C | D281G | missense_variant | 0.98 | 0 |
17:7673778:A | D281V | missense_variant | 0.98 | 0 |
17:7673766:G | E285A | missense_variant | 0.98 | 0 |
17:7673766:C | E285G | missense_variant | 0.98 | 0 |
17:7673766:A | E285V | missense_variant | 0.98 | 0 |
17:7675233:C | S127A | missense_variant | 0.98 | 0 |
17:7675233:G | S127P | missense_variant | 0.98 | 0 |
17:7675233:T | S127T | missense_variant | 0.98 | 0 |
17:7674257:T | Y236N | missense_variant | 0.98 | 0 |
17:7674257:G | Y236H | missense_variant | 0.98 | 0 |
17:7673746:A | K292* | stop_gained | 0.98 | 0 |
17:7675232:C | S127C | missense_variant | 0.98 | 0 |
17:7674246:C | N239K | missense_variant | 0.98 | 0 |
17:7674246:T | N239K | missense_variant | 0.98 | 0 |
17:7674241:T | S241Y | missense_variant | 0.97 | 0 |
17:7674241:A | S241F | missense_variant | 0.97 | 0 |
17:7673762:A | E286D | missense_variant | 0.97 | 0 |
17:7673762:G | E286D | missense_variant | 0.97 | 0 |
17:7675189:C | C141W | missense_variant | 0.97 | 0 |
17:7674879:G | V218L | missense_variant | 0.97 | 0 |
17:7674879:A | V218L | missense_variant | 0.97 | 0 |
17:7674879:T | V218M | missense_variant | 0.97 | 0 |
17:7674191:A | E258* | stop_gained | 0.97 | 0 |
17:7674187:A | D259V | missense_variant | 0.97 | 0 |
17:7674187:C | D259G | missense_variant | 0.97 | 0 |
17:7674187:G | D259A | missense_variant | 0.97 | 0 |
17:7669677:A | K372* | stop_gained | 0.97 | 0 |
17:7669683:A | K370* | stop_gained | 0.97 | 0 |
17:7669647:A | K382* | stop_gained | 0.97 | 0 |
17:7669674:A | K373* | stop_gained | 0.97 | 0 |
17:7669635:A | K386* | stop_gained | 0.97 | 0 |
17:7670664:A | E349* | stop_gained | 0.97 | 0 |
17:7673765:G | E285D | missense_variant | 0.97 | 0 |
17:7673765:A | E285D | missense_variant | 0.97 | 0 |
17:7674186:C | D259E | missense_variant | 0.97 | 0 |
17:7674186:T | D259E | missense_variant | 0.97 | 0 |
17:7673805:C | V272G | missense_variant | 0.97 | 0 |
17:7673805:T | V272E | missense_variant | 0.97 | 0 |
17:7673805:G | V272A | missense_variant | 0.97 | 0 |
17:7675143:G | V157L | missense_variant | 0.97 | 0 |
17:7675143:T | V157I | missense_variant | 0.97 | 0 |
17:7675218:A | K132* | stop_gained | 0.97 | 0 |
17:7675234:A | Y126Y | splice_region_variant | 0.97 | 0 |
17:7676011:A | K120* | stop_gained | 0.97 | 0 |
17:7673782:A | R280* | stop_gained | 0.96 | 0 |
17:7676088:C | S94* | stop_gained | 0.96 | 0 |
17:7674242:G | S241P | missense_variant | 0.96 | 0 |
17:7674242:T | S241T | missense_variant | 0.96 | 0 |
17:7674242:C | S241A | missense_variant | 0.96 | 0 |
17:7674861:A | E224* | stop_gained | 0.96 | 0 |
17:7674189:G | E258D | missense_variant | 0.96 | 0 |
17:7675204:G | Q136H | missense_variant | 0.96 | 0 |
17:7676549:A | Q16* | stop_gained | 0.96 | 0 |
17:7675074:A | E180* | stop_gained | 0.96 | 0 |
17:7675184:C | V143G | missense_variant | 0.96 | 0 |
17:7675184:T | V143E | missense_variant | 0.96 | 0 |
17:7675184:G | V143A | missense_variant | 0.96 | 0 |
17:7670666:C | L348W | missense_variant | 0.95 | 0 |
17:7670687:C | F341C | missense_variant | 0.95 | 0 |
17:7670687:T | F341Y | missense_variant | 0.95 | 0 |
17:7670687:G | F341S | missense_variant | 0.95 | 0 |
17:7675142:G | V157A | missense_variant | 0.95 | 0 |
17:7675094:T | V173E | missense_variant | 0.95 | 0 |
17:7675094:G | V173A | missense_variant | 0.95 | 0 |
17:7675097:T | V172D | missense_variant | 0.95 | 0 |
17:7675142:T | V157D | missense_variant | 0.95 | 0 |
17:7675125:C | Y163D | missense_variant | 0.95 | 0 |
17:7675142:C | V157G | missense_variant | 0.95 | 0 |
17:7675097:C | V172G | missense_variant | 0.95 | 0 |
17:7675125:T | Y163N | missense_variant | 0.95 | 0 |
17:7675097:G | V172A | missense_variant | 0.95 | 0 |
17:7670665:A | L348F | missense_variant | 0.95 | 0 |
17:7670665:G | L348F | missense_variant | 0.95 | 0 |
17:7673555:A | G325* | stop_gained | 0.95 | 0 |
17:7676060:T | Y103* | stop_gained | 0.95 | 0 |
17:7674211:G | I251T | missense_variant | 0.95 | 0 |
17:7674211:C | I251S | missense_variant | 0.95 | 0 |
17:7674226:G | M246T | missense_variant | 0.95 | 0 |
17:7674226:C | M246R | missense_variant | 0.95 | 0 |
17:7674226:T | M246K | missense_variant | 0.95 | 0 |
17:7675210:T | F134L | missense_variant | 0.95 | 0 |
17:7675210:C | F134L | missense_variant | 0.95 | 0 |
17:7673567:A | K321* | stop_gained | 0.94 | 0 |
17:7675115:T | S166* | stop_gained | 0.94 | 0 |
17:7674952:C | H193Q | missense_variant | 0.94 | 0 |
17:7674952:T | H193Q | missense_variant | 0.94 | 0 |
17:7675066:T | C182* | stop_gained | 0.94 | 0 |
17:7670673:A | E346* | stop_gained | 0.94 | 0 |
17:7670637:A | E358* | stop_gained | 0.94 | 0 |
17:7675202:C | L137R | missense_variant | 0.94 | 0 |
17:7675212:G | F134L | missense_variant | 0.94 | 0 |
17:7675212:T | F134I | missense_variant | 0.94 | 0 |
17:7675214:C | M133R | missense_variant | 0.94 | 0 |
17:7675214:G | M133T | missense_variant | 0.94 | 0 |
17:7675202:G | L137P | missense_variant | 0.94 | 0 |
17:7675215:G | M133L | missense_variant | 0.94 | 0 |
17:7675215:A | M133L | missense_variant | 0.94 | 0 |
17:7675215:C | M133V | missense_variant | 0.94 | 0 |
17:7673812:C | F270V | missense_variant | 0.94 | 0 |
17:7673812:G | F270L | missense_variant | 0.94 | 0 |
17:7673812:T | F270I | missense_variant | 0.94 | 0 |
17:7673797:C | C275G | missense_variant | 0.94 | 0 |
17:7673826:G | L265P | missense_variant | 0.94 | 0 |
17:7673826:T | L265Q | missense_variant | 0.94 | 0 |
17:7673791:T | C277S | missense_variant | 0.94 | 0 |
17:7673791:G | C277R | missense_variant | 0.94 | 0 |
17:7673797:T | C275S | missense_variant | 0.94 | 0 |
17:7673797:G | C275R | missense_variant | 0.94 | 0 |
17:7674237:C | C242W | missense_variant | 0.94 | 0 |
17:7675197:A | K139* | stop_gained | 0.93 | 0 |
17:7674188:G | D259H | missense_variant | 0.93 | 0 |
17:7674188:A | D259Y | missense_variant | 0.93 | 0 |
17:7675216:A | K132N | missense_variant | 0.92 | 0 |
17:7674239:C | C242G | missense_variant | 0.92 | 0 |
17:7674239:G | C242R | missense_variant | 0.92 | 0 |
17:7676384:A | L32L | splice_region_variant | 0.92 | 0 |
17:7675123:T | Y163* | stop_gained | 0.92 | 0 |
17:7673827:C | L265V | missense_variant | 0.92 | 0 |
17:7673827:T | L265M | missense_variant | 0.92 | 0 |
17:7675140:A | R158C | missense_variant | 0.91 | 0 |
17:7675140:C | R158G | missense_variant | 0.91 | 0 |
17:7675140:T | R158S | missense_variant | 0.91 | 0 |
17:7676527:T | W23* | stop_gained | 0.90 | 0 |
17:7669650:A | K381* | stop_gained | 0.90 | 0 |
17:7675122:A | K164* | stop_gained | 0.90 | 0 |
17:7670688:G | F341L | missense_variant | 0.90 | 0 |
17:7670688:T | F341I | missense_variant | 0.90 | 0 |
17:7670688:C | F341V | missense_variant | 0.90 | 0 |
17:7676051:T | S106R | missense_variant | 0.90 | 0 |
17:7673789:T | C277* | stop_gained | 0.90 | 0 |
17:7673707:A | K305* | stop_gained | 0.90 | 0 |
17:7675108:T | H168Q | missense_variant | 0.90 | 0 |
17:7675108:C | H168Q | missense_variant | 0.90 | 0 |
17:7675072:A | E180D | missense_variant | 0.89 | 0 |
17:7675072:G | E180D | missense_variant | 0.89 | 0 |
17:7675146:A | R156C | missense_variant | 0.89 | 0 |
17:7675146:T | R156S | missense_variant | 0.89 | 0 |
17:7675146:C | R156G | missense_variant | 0.89 | 0 |
17:7675064:T | S183* | stop_gained | 0.88 | 0 |
17:7675064:C | S183* | stop_gained | 0.88 | 0 |
17:7673573:A | K319* | stop_gained | 0.87 | 0 |
17:7675075:T | H179Q | missense_variant | 0.87 | 0 |
17:7675075:C | H179Q | missense_variant | 0.87 | 0 |
17:7675218:G | K132Q | missense_variant | 0.87 | 0 |
17:7675217:G | K132T | missense_variant | 0.87 | 0 |
17:7675218:C | K132E | missense_variant | 0.87 | 0 |
17:7675217:C | K132R | missense_variant | 0.87 | 0 |
17:7675217:A | K132M | missense_variant | 0.87 | 0 |
17:7674276:T | C229* | stop_gained | 0.84 | 0 |
17:7673795:T | C275* | stop_gained | 0.83 | 0 |
17:7674210:C | I251M | missense_variant | 0.83 | 0 |
17:7674255:T | Y236* | stop_gained | 0.81 | 0 |
17:7674255:C | Y236* | stop_gained | 0.81 | 0 |
17:7675101:G | E171Q | missense_variant | 0.80 | 0 |
17:7675101:T | E171K | missense_variant | 0.80 | 0 |
17:7675203:C | L137V | missense_variant | 0.80 | 0 |
17:7675203:T | L137M | missense_variant | 0.80 | 0 |
17:7669616:C | S392* | stop_gained | 0.80 | 0 |
17:7669616:T | S392* | stop_gained | 0.80 | 0 |
17:7676052:G | S106T | missense_variant | 0.80 | 0 |
17:7676052:A | S106I | missense_variant | 0.80 | 0 |
17:7676052:T | S106N | missense_variant | 0.80 | 0 |
17:7674249:C | C238W | missense_variant | 0.78 | 0 |
17:7676053:C | S106G | missense_variant | 0.76 | 0 |
17:7676053:A | S106C | missense_variant | 0.76 | 0 |
17:7676053:G | S106R | missense_variant | 0.76 | 0 |
17:7670611:T | S366S | splice_region_variant | 0.75 | 0 |
17:7670611:C | S366S | splice_region_variant | 0.75 | 0 |
17:7670611:A | S366S | splice_region_variant | 0.75 | 0 |
17:7670686:T | F341L | missense_variant | 0.75 | 0 |
17:7675071:C | R181G | missense_variant | 0.75 | 0 |
17:7675071:A | R181C | missense_variant | 0.75 | 0 |
17:7675071:T | R181S | missense_variant | 0.75 | 0 |
17:7674237:T | C242* | stop_gained | 0.75 | 0 |
17:7675213:A | M133I | missense_variant | 0.73 | 0 |
17:7675213:T | M133I | missense_variant | 0.73 | 0 |
17:7675213:G | M133I | missense_variant | 0.73 | 0 |
17:7674183:A | S260S | splice_region_variant | 0.69 | 0 |
17:7674183:T | S260S | splice_region_variant | 0.69 | 0 |
17:7674183:C | S260S | splice_region_variant | 0.69 | 0 |
17:7674261:T | Y234* | stop_gained | 0.68 | 0 |
17:7674261:C | Y234* | stop_gained | 0.68 | 0 |
17:7675106:G | M169T | missense_variant | 0.65 | 0 |
17:7675106:C | M169R | missense_variant | 0.65 | 0 |
17:7675106:T | M169K | missense_variant | 0.65 | 0 |
17:7674288:G | V225V | splice_region_variant | 0.55 | 0 |
17:7674288:C | V225V | splice_region_variant | 0.55 | 0 |
17:7674288:T | V225V | splice_region_variant | 0.55 | 0 |
17:7675119:C | Q165E | missense_variant | 0.52 | 0 |
17:7675119:T | Q165K | missense_variant | 0.52 | 0 |
17:7670667:C | L348V | missense_variant | 0.51 | 0 |
17:7670667:T | L348M | missense_variant | 0.51 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(HNSC) Head and neck squamous cell carcinoma | HNSC | 0.60 | 0.40 |