Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
17:7674220:T | R248Q | missense_variant | 1.00 | 26 |
17:7673767:T | E285K | missense_variant | 1.00 | 19 |
17:7673781:G | R280T | missense_variant | 1.00 | 16 |
17:7673809:T | E271K | missense_variant | 1.00 | 8 |
17:7673781:T | R280K | missense_variant | 1.00 | 8 |
17:7675088:T | R175H | missense_variant | 1.00 | 8 |
17:7673767:A | E285* | stop_gained | 1.00 | 8 |
17:7674221:A | R248W | missense_variant | 1.00 | 8 |
17:7673776:A | R282W | missense_variant | 1.00 | 7 |
17:7674241:A | S241F | missense_variant | 1.00 | 7 |
17:7675216:G | K132N | missense_variant | 1.00 | 7 |
17:7673803:A | R273C | missense_variant | 1.00 | 6 |
17:7674250:A | C238F | missense_variant | 1.00 | 6 |
17:7674957:A | Q192* | stop_gained | 1.00 | 6 |
17:7674872:C | Y220C | missense_variant | 1.00 | 5 |
17:7673537:A | Q331* | stop_gained | 1.00 | 5 |
17:7670703:A | E336* | stop_gained | 1.00 | 5 |
17:7673535:T | Q331Q | splice_region_variant | 0.95 | 5 |
17:7675139:T | R158H | missense_variant | 1.00 | 4 |
17:7675995:A | T125M | missense_variant | 1.00 | 4 |
17:7675131:T | A161T | missense_variant | 1.00 | 4 |
17:7673823:T | G266E | missense_variant | 0.55 | 4 |
17:7674893:T | R213Q | missense_variant | 1.00 | 3 |
17:7674220:G | R248P | missense_variant | 1.00 | 3 |
17:7674229:T | G245D | missense_variant | 1.00 | 3 |
17:7675208:G | C135S | missense_variant | 1.00 | 3 |
17:7674954:A | H193Y | missense_variant | 1.00 | 3 |
17:7674890:C | H214R | missense_variant | 1.00 | 3 |
17:7675136:A | A159V | missense_variant | 1.00 | 3 |
17:7673761:A | E287* | stop_gained | 1.00 | 3 |
17:7675064:C | S183* | stop_gained | 0.98 | 3 |
17:7674262:C | Y234C | missense_variant | 0.84 | 3 |
17:7674893:A | R213L | missense_variant | 1.00 | 2 |
17:7673809:G | E271Q | missense_variant | 1.00 | 2 |
17:7673779:T | D281N | missense_variant | 1.00 | 2 |
17:7673790:A | C277F | missense_variant | 1.00 | 2 |
17:7673803:T | R273S | missense_variant | 1.00 | 2 |
17:7674230:T | G245S | missense_variant | 1.00 | 2 |
17:7674229:A | G245V | missense_variant | 1.00 | 2 |
17:7675124:C | Y163C | missense_variant | 1.00 | 2 |
17:7675095:T | V173M | missense_variant | 1.00 | 2 |
17:7675085:T | C176Y | missense_variant | 1.00 | 2 |
17:7674951:A | L194F | missense_variant | 1.00 | 2 |
17:7674950:C | L194R | missense_variant | 1.00 | 2 |
17:7673740:A | E294* | stop_gained | 1.00 | 2 |
17:7674945:A | R196* | stop_gained | 1.00 | 2 |
17:7674939:A | E198* | stop_gained | 1.00 | 2 |
17:7674921:A | E204* | stop_gained | 1.00 | 2 |
17:7673704:A | R306* | stop_gained | 1.00 | 2 |
17:7674193:T | L257Q | missense_variant | 1.00 | 2 |
17:7675195:G | K139N | missense_variant | 0.99 | 2 |
17:7674894:A | R213* | stop_gained | 0.98 | 2 |
17:7675074:A | E180* | stop_gained | 0.97 | 2 |
17:7674187:A | D259V | missense_variant | 0.97 | 2 |
17:7673759:G | E287D | missense_variant | 0.97 | 2 |
17:7674216:A | R249S | missense_variant | 0.97 | 2 |
17:7676215:A | Q52* | stop_gained | 0.94 | 2 |
17:7673802:A | R273L | missense_variant | 1.00 | 1 |
17:7673785:G | G279R | missense_variant | 1.00 | 1 |
17:7673785:A | G279W | missense_variant | 1.00 | 1 |
17:7673767:G | E285Q | missense_variant | 1.00 | 1 |
17:7673781:A | R280I | missense_variant | 1.00 | 1 |
17:7673779:G | D281H | missense_variant | 1.00 | 1 |
17:7673796:T | C275Y | missense_variant | 1.00 | 1 |
17:7675088:A | R175L | missense_variant | 1.00 | 1 |
17:7674252:T | M237I | missense_variant | 1.00 | 1 |
17:7674232:T | G244D | missense_variant | 1.00 | 1 |
17:7674238:A | C242F | missense_variant | 1.00 | 1 |
17:7674238:T | C242Y | missense_variant | 1.00 | 1 |
17:7674233:A | G244C | missense_variant | 1.00 | 1 |
17:7673761:G | E287Q | missense_variant | 1.00 | 1 |
17:7675208:A | C135F | missense_variant | 1.00 | 1 |
17:7675208:T | C135Y | missense_variant | 1.00 | 1 |
17:7675085:A | C176F | missense_variant | 1.00 | 1 |
17:7675101:T | E171K | missense_variant | 1.00 | 1 |
17:7675137:G | A159P | missense_variant | 1.00 | 1 |
17:7675076:C | H179R | missense_variant | 1.00 | 1 |
17:7674241:C | S241C | missense_variant | 1.00 | 1 |
17:7674878:T | V218E | missense_variant | 1.00 | 1 |
17:7675145:G | R156P | missense_variant | 1.00 | 1 |
17:7674947:G | I195T | missense_variant | 1.00 | 1 |
17:7674950:T | L194H | missense_variant | 1.00 | 1 |
17:7674191:T | E258K | missense_variant | 1.00 | 1 |
17:7674256:C | Y236C | missense_variant | 1.00 | 1 |
17:7676007:T | S121Y | missense_variant | 1.00 | 1 |
17:7674953:C | H193R | missense_variant | 1.00 | 1 |
17:7676097:T | W91* | stop_gained | 1.00 | 1 |
17:7674861:A | E224* | stop_gained | 1.00 | 1 |
17:7674251:G | C238R | missense_variant | 1.00 | 1 |
17:7675131:A | A161S | missense_variant | 1.00 | 1 |
17:7674221:C | R248G | missense_variant | 1.00 | 1 |
17:7675190:T | C141Y | missense_variant | 1.00 | 1 |
17:7673772:G | R283P | missense_variant | 1.00 | 1 |
17:7674191:A | E258* | stop_gained | 1.00 | 1 |
17:7673787:C | P278R | missense_variant | 1.00 | 1 |
17:7673787:A | P278L | missense_variant | 1.00 | 1 |
17:7673788:C | P278A | missense_variant | 1.00 | 1 |
17:7673788:T | P278T | missense_variant | 1.00 | 1 |
17:7670685:A | R342* | stop_gained | 1.00 | 1 |
17:7675214:C | M133R | missense_variant | 1.00 | 1 |
17:7675199:A | A138V | missense_variant | 1.00 | 1 |
17:7673778:G | D281A | missense_variant | 1.00 | 1 |
17:7673766:A | E285V | missense_variant | 1.00 | 1 |
17:7675160:T | P151H | missense_variant | 1.00 | 1 |
17:7674921:G | E204Q | missense_variant | 1.00 | 1 |
17:7675161:A | P151S | missense_variant | 1.00 | 1 |
17:7675161:C | P151A | missense_variant | 1.00 | 1 |
17:7673826:G | L265P | missense_variant | 1.00 | 1 |
17:7676536:C | S20* | stop_gained | 1.00 | 1 |
17:7675101:A | E171* | stop_gained | 1.00 | 1 |
17:7674226:G | M246T | missense_variant | 1.00 | 1 |
17:7675070:T | R181H | missense_variant | 1.00 | 1 |
17:7676056:A | G105C | missense_variant | 1.00 | 1 |
17:7673579:A | Q317* | stop_gained | 0.99 | 1 |
17:7675175:T | W146* | stop_gained | 0.99 | 1 |
17:7675206:A | Q136* | stop_gained | 0.99 | 1 |
17:7675130:A | A161V | missense_variant | 0.99 | 1 |
17:7675130:T | A161D | missense_variant | 0.99 | 1 |
17:7675157:A | P152L | missense_variant | 0.99 | 1 |
17:7675182:A | Q144* | stop_gained | 0.99 | 1 |
17:7675140:A | R158C | missense_variant | 0.99 | 1 |
17:7674870:A | E221* | stop_gained | 0.99 | 1 |
17:7670682:A | E343* | stop_gained | 0.99 | 1 |
17:7675175:G | W146S | missense_variant | 0.98 | 1 |
17:7676004:C | V122G | missense_variant | 0.98 | 1 |
17:7673764:A | E286* | stop_gained | 0.97 | 1 |
17:7673573:A | K319* | stop_gained | 0.97 | 1 |
17:7673789:T | C277* | stop_gained | 0.97 | 1 |
17:7674909:T | D208N | missense_variant | 0.97 | 1 |
17:7676088:C | S94* | stop_gained | 0.96 | 1 |
17:7675109:C | H168R | missense_variant | 0.95 | 1 |
17:7676211:T | W53* | stop_gained | 0.94 | 1 |
17:7676167:A | E68* | stop_gained | 0.93 | 1 |
17:7675170:T | D148N | missense_variant | 0.93 | 1 |
17:7676040:A | R110L | missense_variant | 0.92 | 1 |
17:7675113:A | Q167* | stop_gained | 0.92 | 1 |
17:7676041:T | R110S | missense_variant | 0.91 | 1 |
17:7674935:A | G199V | missense_variant | 0.88 | 1 |
17:7674188:A | D259Y | missense_variant | 0.86 | 1 |
17:7674281:T | D228N | missense_variant | 0.64 | 1 |
17:7675184:G | V143A | missense_variant | 0.54 | 1 |
17:7674893:G | R213P | missense_variant | 1.00 | 0 |
17:7673784:A | G279V | missense_variant | 1.00 | 0 |
17:7673784:T | G279E | missense_variant | 1.00 | 0 |
17:7673784:G | G279A | missense_variant | 1.00 | 0 |
17:7673802:T | R273H | missense_variant | 1.00 | 0 |
17:7673779:A | D281Y | missense_variant | 1.00 | 0 |
17:7673802:G | R273P | missense_variant | 1.00 | 0 |
17:7673796:A | C275F | missense_variant | 1.00 | 0 |
17:7673785:T | G279R | missense_variant | 1.00 | 0 |
17:7673796:G | C275S | 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:T | R282Q | missense_variant | 1.00 | 0 |
17:7673775:A | R282L | missense_variant | 1.00 | 0 |
17:7674220:A | R248L | missense_variant | 1.00 | 0 |
17:7675088:G | R175P | missense_variant | 1.00 | 0 |
17:7673760:A | E287V | missense_variant | 1.00 | 0 |
17:7673760:G | E287A | missense_variant | 1.00 | 0 |
17:7673760:C | E287G | missense_variant | 1.00 | 0 |
17:7673803:C | R273G | missense_variant | 1.00 | 0 |
17:7674252:G | M237I | missense_variant | 1.00 | 0 |
17:7674250:G | C238S | missense_variant | 1.00 | 0 |
17:7674250:T | C238Y | missense_variant | 1.00 | 0 |
17:7674252:A | M237I | missense_variant | 1.00 | 0 |
17:7674232:G | G244A | missense_variant | 1.00 | 0 |
17:7674232:A | G244V | missense_variant | 1.00 | 0 |
17:7674225:T | M246I | missense_variant | 1.00 | 0 |
17:7674225:A | M246I | missense_variant | 1.00 | 0 |
17:7674238:G | C242S | missense_variant | 1.00 | 0 |
17:7674233:T | G244S | missense_variant | 1.00 | 0 |
17:7674233:G | G244R | missense_variant | 1.00 | 0 |
17:7674230:G | G245R | missense_variant | 1.00 | 0 |
17:7674230:A | G245C | missense_variant | 1.00 | 0 |
17:7674229:G | G245A | missense_variant | 1.00 | 0 |
17:7674225:G | M246I | missense_variant | 1.00 | 0 |
17:7674217:T | R249K | missense_variant | 1.00 | 0 |
17:7674217:A | R249M | missense_variant | 1.00 | 0 |
17:7674217:G | R249T | missense_variant | 1.00 | 0 |
17:7675124:G | Y163S | missense_variant | 1.00 | 0 |
17:7675124:A | Y163F | missense_variant | 1.00 | 0 |
17:7673761:T | E287K | missense_variant | 1.00 | 0 |
17:7675200:T | A138T | missense_variant | 1.00 | 0 |
17:7675200:G | A138P | missense_variant | 1.00 | 0 |
17:7675200:A | A138S | missense_variant | 1.00 | 0 |
17:7675095:G | V173L | missense_variant | 1.00 | 0 |
17:7675139:G | R158P | missense_variant | 1.00 | 0 |
17:7675101:G | E171Q | missense_variant | 1.00 | 0 |
17:7675085:G | C176S | missense_variant | 1.00 | 0 |
17:7675139:A | R158L | missense_variant | 1.00 | 0 |
17:7675095:A | V173L | 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 |
17:7674951:T | L194I | missense_variant | 1.00 | 0 |
17:7674951:C | L194V | missense_variant | 1.00 | 0 |
17:7675137:T | A159T | missense_variant | 1.00 | 0 |
17:7675137:A | A159S | missense_variant | 1.00 | 0 |
17:7675076:G | H179P | missense_variant | 1.00 | 0 |
17:7675076:A | H179L | missense_variant | 1.00 | 0 |
17:7674872:A | Y220F | missense_variant | 1.00 | 0 |
17:7674872:G | Y220S | missense_variant | 1.00 | 0 |
17:7675071:A | R181C | missense_variant | 1.00 | 0 |
17:7675071:T | R181S | missense_variant | 1.00 | 0 |
17:7675071:C | R181G | missense_variant | 1.00 | 0 |
17:7674891:A | H214Y | missense_variant | 1.00 | 0 |
17:7674891:C | H214D | missense_variant | 1.00 | 0 |
17:7674891:T | H214N | missense_variant | 1.00 | 0 |
17:7673776:C | R282G | missense_variant | 1.00 | 0 |
17:7674241:T | S241Y | missense_variant | 1.00 | 0 |
17:7674954:T | H193N | missense_variant | 1.00 | 0 |
17:7674954:C | H193D | missense_variant | 1.00 | 0 |
17:7674878:C | V218G | missense_variant | 1.00 | 0 |
17:7674878:G | V218A | missense_variant | 1.00 | 0 |
17:7675145:T | R156H | missense_variant | 1.00 | 0 |
17:7675145:A | R156L | missense_variant | 1.00 | 0 |
17:7673809:A | E271* | stop_gained | 1.00 | 0 |
17:7674947:C | I195S | missense_variant | 1.00 | 0 |
17:7674947:T | I195N | missense_variant | 1.00 | 0 |
17:7674950:G | L194P | missense_variant | 1.00 | 0 |
17:7674890:A | H214L | missense_variant | 1.00 | 0 |
17:7674890:G | H214P | missense_variant | 1.00 | 0 |
17:7674873:C | Y220D | missense_variant | 1.00 | 0 |
17:7674873:T | Y220N | missense_variant | 1.00 | 0 |
17:7674873:G | Y220H | missense_variant | 1.00 | 0 |
17:7674191:G | E258Q | missense_variant | 1.00 | 0 |
17:7669668:A | Q375* | stop_gained | 1.00 | 0 |
17:7674256:G | Y236S | missense_variant | 1.00 | 0 |
17:7674256:A | Y236F | missense_variant | 1.00 | 0 |
17:7676007:A | S121F | missense_variant | 1.00 | 0 |
17:7675995:C | T125R | missense_variant | 1.00 | 0 |
17:7675995:T | T125K | missense_variant | 1.00 | 0 |
17:7676007:C | S121C | missense_variant | 1.00 | 0 |
17:7673552:A | E326* | stop_gained | 1.00 | 0 |
17:7676591:A | E2* | stop_gained | 1.00 | 0 |
17:7674948:G | I195L | missense_variant | 1.00 | 0 |
17:7674953:G | H193P | missense_variant | 1.00 | 0 |
17:7674948:A | I195F | missense_variant | 1.00 | 0 |
17:7674948:C | I195V | missense_variant | 1.00 | 0 |
17:7674953:A | H193L | missense_variant | 1.00 | 0 |
17:7673746:A | K292* | stop_gained | 1.00 | 0 |
17:7675089:A | R175C | missense_variant | 1.00 | 0 |
17:7675089:T | R175S | missense_variant | 1.00 | 0 |
17:7675089:C | R175G | missense_variant | 1.00 | 0 |
17:7674936:A | G199* | stop_gained | 1.00 | 0 |
17:7674190:A | E258V | missense_variant | 1.00 | 0 |
17:7674190:G | E258A | missense_variant | 1.00 | 0 |
17:7674190:C | E258G | missense_variant | 1.00 | 0 |
17:7673547:T | Y327* | stop_gained | 1.00 | 0 |
17:7673547:C | Y327* | stop_gained | 1.00 | 0 |
17:7676525:A | K24* | stop_gained | 1.00 | 0 |
17:7675216:A | K132N | missense_variant | 1.00 | 0 |
17:7674251:C | C238G | missense_variant | 1.00 | 0 |
17:7674251:T | C238S | missense_variant | 1.00 | 0 |
17:7675131:G | A161P | missense_variant | 1.00 | 0 |
17:7676096:T | W91* | stop_gained | 1.00 | 0 |
17:7675190:A | C141F | missense_variant | 1.00 | 0 |
17:7675190:G | C141S | missense_variant | 1.00 | 0 |
17:7676546:A | E17* | stop_gained | 1.00 | 0 |
17:7674946:C | I195M | missense_variant | 1.00 | 0 |
17:7673749:A | K291* | stop_gained | 1.00 | 0 |
17:7675176:C | W146G | missense_variant | 1.00 | 0 |
17:7675176:G | W146R | missense_variant | 1.00 | 0 |
17:7675176:T | W146R | missense_variant | 1.00 | 0 |
17:7673772:T | R283H | missense_variant | 1.00 | 0 |
17:7673772:A | R283L | missense_variant | 1.00 | 0 |
17:7669629:A | E388* | stop_gained | 1.00 | 0 |
17:7673787:T | P278H | missense_variant | 1.00 | 0 |
17:7673788:A | P278S | missense_variant | 1.00 | 0 |
17:7673782:C | R280G | missense_variant | 1.00 | 0 |
17:7676564:A | E11* | stop_gained | 1.00 | 0 |
17:7675214:T | M133K | missense_variant | 1.00 | 0 |
17:7675209:C | C135G | missense_variant | 1.00 | 0 |
17:7675209:G | C135R | missense_variant | 1.00 | 0 |
17:7675209:T | C135S | missense_variant | 1.00 | 0 |
17:7675214:G | M133T | missense_variant | 1.00 | 0 |
17:7675199:C | A138G | missense_variant | 1.00 | 0 |
17:7675199:T | A138D | missense_variant | 1.00 | 0 |
17:7676008:T | S121T | missense_variant | 1.00 | 0 |
17:7676008:G | S121P | missense_variant | 1.00 | 0 |
17:7676008:C | S121A | missense_variant | 1.00 | 0 |
17:7673766:C | E285G | missense_variant | 1.00 | 0 |
17:7673808:A | E271V | missense_variant | 1.00 | 0 |
17:7673766:G | E285A | missense_variant | 1.00 | 0 |
17:7673778:A | D281V | missense_variant | 1.00 | 0 |
17:7673808:G | E271A | missense_variant | 1.00 | 0 |
17:7673808:C | E271G | missense_variant | 1.00 | 0 |
17:7673778:C | D281G | missense_variant | 1.00 | 0 |
17:7675174:T | W146* | stop_gained | 1.00 | 0 |
17:7675160:A | P151L | missense_variant | 1.00 | 0 |
17:7675160:C | P151R | missense_variant | 1.00 | 0 |
17:7674921:T | E204K | missense_variant | 1.00 | 0 |
17:7675136:C | A159G | missense_variant | 1.00 | 0 |
17:7675136:T | A159D | missense_variant | 1.00 | 0 |
17:7675161:T | P151T | missense_variant | 1.00 | 0 |
17:7674242:T | S241T | missense_variant | 1.00 | 0 |
17:7674242:G | S241P | missense_variant | 1.00 | 0 |
17:7674242:C | S241A | missense_variant | 1.00 | 0 |
17:7673791:T | C277S | missense_variant | 1.00 | 0 |
17:7673826:C | L265R | missense_variant | 1.00 | 0 |
17:7673791:C | C277G | missense_variant | 1.00 | 0 |
17:7673791:G | C277R | missense_variant | 1.00 | 0 |
17:7673797:G | C275R | missense_variant | 1.00 | 0 |
17:7673797:C | C275G | missense_variant | 1.00 | 0 |
17:7673826:T | L265Q | missense_variant | 1.00 | 0 |
17:7673797:T | C275S | missense_variant | 1.00 | 0 |
17:7676536:T | S20* | stop_gained | 1.00 | 0 |
17:7673777:C | D281E | missense_variant | 1.00 | 0 |
17:7673777:T | D281E | missense_variant | 1.00 | 0 |
17:7674227:A | M246L | missense_variant | 1.00 | 0 |
17:7674227:G | M246L | missense_variant | 1.00 | 0 |
17:7674227:C | M246V | missense_variant | 1.00 | 0 |
17:7674193:C | L257R | missense_variant | 1.00 | 0 |
17:7674193:G | L257P | missense_variant | 1.00 | 0 |
17:7676068:A | K101* | stop_gained | 1.00 | 0 |
17:7674239:T | C242S | missense_variant | 1.00 | 0 |
17:7674226:C | M246R | missense_variant | 1.00 | 0 |
17:7674239:G | C242R | missense_variant | 1.00 | 0 |
17:7674239:C | C242G | missense_variant | 1.00 | 0 |
17:7674226:T | M246K | missense_variant | 1.00 | 0 |
17:7675070:A | R181L | missense_variant | 1.00 | 0 |
17:7675070:G | R181P | missense_variant | 1.00 | 0 |
17:7674879:A | V218L | missense_variant | 1.00 | 0 |
17:7674879:T | V218M | missense_variant | 1.00 | 0 |
17:7674879:G | V218L | missense_variant | 1.00 | 0 |
17:7676055:T | G105D | missense_variant | 1.00 | 0 |
17:7676056:G | G105R | missense_variant | 1.00 | 0 |
17:7676056:T | G105S | missense_variant | 1.00 | 0 |
17:7676055:A | G105V | missense_variant | 1.00 | 0 |
17:7676055:G | G105A | missense_variant | 1.00 | 0 |
17:7675174:G | W146C | missense_variant | 1.00 | 0 |
17:7675174:A | W146C | missense_variant | 1.00 | 0 |
17:7675996:C | T125A | missense_variant | 1.00 | 0 |
17:7675996:A | T125S | missense_variant | 1.00 | 0 |
17:7675996:G | T125P | missense_variant | 1.00 | 0 |
17:7673570:A | K320* | stop_gained | 0.99 | 0 |
17:7670666:T | L348* | stop_gained | 0.99 | 0 |
17:7674253:C | M237R | missense_variant | 0.99 | 0 |
17:7674253:T | M237K | missense_variant | 0.99 | 0 |
17:7674253:G | M237T | missense_variant | 0.99 | 0 |
17:7674237:C | C242W | missense_variant | 0.99 | 0 |
17:7676185:A | E62* | stop_gained | 0.99 | 0 |
17:7674969:A | L188L | splice_region_variant | 0.99 | 0 |
17:7674914:T | L206* | stop_gained | 0.99 | 0 |
17:7675195:A | K139N | missense_variant | 0.99 | 0 |
17:7675157:T | P152Q | missense_variant | 0.99 | 0 |
17:7675157:C | P152R | missense_variant | 0.99 | 0 |
17:7675077:C | H179D | missense_variant | 0.99 | 0 |
17:7675158:T | P152T | missense_variant | 0.99 | 0 |
17:7675158:C | P152A | missense_variant | 0.99 | 0 |
17:7675158:A | P152S | missense_variant | 0.99 | 0 |
17:7675077:A | H179Y | missense_variant | 0.99 | 0 |
17:7675077:T | H179N | missense_variant | 0.99 | 0 |
17:7675130:C | A161G | missense_variant | 0.99 | 0 |
17:7673789:C | C277W | missense_variant | 0.99 | 0 |
17:7675218:A | K132* | stop_gained | 0.99 | 0 |
17:7675217:A | K132M | missense_variant | 0.99 | 0 |
17:7675218:C | K132E | missense_variant | 0.99 | 0 |
17:7675217:C | K132R | missense_variant | 0.99 | 0 |
17:7675218:G | K132Q | missense_variant | 0.99 | 0 |
17:7675217:G | K132T | missense_variant | 0.99 | 0 |
17:7676578:T | S6* | stop_gained | 0.99 | 0 |
17:7676578:C | S6* | stop_gained | 0.99 | 0 |
17:7675100:A | E171V | missense_variant | 0.99 | 0 |
17:7675100:C | E171G | missense_variant | 0.99 | 0 |
17:7675100:G | E171A | missense_variant | 0.99 | 0 |
17:7674254:C | M237V | missense_variant | 0.99 | 0 |
17:7674254:G | M237L | missense_variant | 0.99 | 0 |
17:7674254:A | M237L | missense_variant | 0.99 | 0 |
17:7674859:T | E224E | splice_region_variant | 0.99 | 0 |
17:7675191:T | C141S | missense_variant | 0.99 | 0 |
17:7675191:C | C141G | missense_variant | 0.99 | 0 |
17:7675191:G | C141R | missense_variant | 0.99 | 0 |
17:7676005:T | V122M | missense_variant | 0.99 | 0 |
17:7676005:A | V122L | missense_variant | 0.99 | 0 |
17:7676005:G | V122L | missense_variant | 0.99 | 0 |
17:7676582:A | Q5* | stop_gained | 0.99 | 0 |
17:7675189:T | C141* | stop_gained | 0.99 | 0 |
17:7675125:T | Y163N | missense_variant | 0.99 | 0 |
17:7675094:G | V173A | missense_variant | 0.99 | 0 |
17:7675094:T | V173E | missense_variant | 0.99 | 0 |
17:7675094:C | V173G | missense_variant | 0.99 | 0 |
17:7675125:G | Y163H | missense_variant | 0.99 | 0 |
17:7675125:C | Y163D | missense_variant | 0.99 | 0 |
17:7675086:T | C176S | missense_variant | 0.99 | 0 |
17:7675086:G | C176R | missense_variant | 0.99 | 0 |
17:7675086:C | C176G | missense_variant | 0.99 | 0 |
17:7676059:A | Q104* | stop_gained | 0.99 | 0 |
17:7670640:A | K357* | stop_gained | 0.99 | 0 |
17:7675140:C | R158G | missense_variant | 0.99 | 0 |
17:7675140:T | R158S | missense_variant | 0.99 | 0 |
17:7674257:C | Y236D | missense_variant | 0.99 | 0 |
17:7674257:G | Y236H | missense_variant | 0.99 | 0 |
17:7674257:T | Y236N | missense_variant | 0.99 | 0 |
17:7673795:C | C275W | missense_variant | 0.99 | 0 |
17:7674920:C | E204G | missense_variant | 0.99 | 0 |
17:7674920:A | E204V | missense_variant | 0.99 | 0 |
17:7674920:G | E204A | missense_variant | 0.99 | 0 |
17:7675175:A | W146L | missense_variant | 0.98 | 0 |
17:7673702:A | R306R | splice_region_variant | 0.98 | 0 |
17:7673702:C | R306R | splice_region_variant | 0.98 | 0 |
17:7673702:G | R306R | splice_region_variant | 0.98 | 0 |
17:7675189:C | C141W | missense_variant | 0.98 | 0 |
17:7674218:A | R249W | missense_variant | 0.98 | 0 |
17:7674218:C | R249G | missense_variant | 0.98 | 0 |
17:7675196:G | K139T | missense_variant | 0.98 | 0 |
17:7675196:C | K139R | missense_variant | 0.98 | 0 |
17:7675196:A | K139M | missense_variant | 0.98 | 0 |
17:7674919:A | E204D | missense_variant | 0.98 | 0 |
17:7674919:G | E204D | missense_variant | 0.98 | 0 |
17:7676004:G | V122A | missense_variant | 0.98 | 0 |
17:7676004:T | V122E | missense_variant | 0.98 | 0 |
17:7676176:A | R65* | stop_gained | 0.98 | 0 |
17:7670673:A | E346* | stop_gained | 0.98 | 0 |
17:7676048:T | Y107* | stop_gained | 0.98 | 0 |
17:7676048:C | Y107* | stop_gained | 0.98 | 0 |
17:7675197:C | K139E | missense_variant | 0.98 | 0 |
17:7675197:G | K139Q | missense_variant | 0.98 | 0 |
17:7675234:C | Y126* | stop_gained | 0.98 | 0 |
17:7675234:T | Y126* | stop_gained | 0.98 | 0 |
17:7675197:A | K139* | stop_gained | 0.98 | 0 |
17:7673827:T | L265M | missense_variant | 0.98 | 0 |
17:7673827:C | L265V | missense_variant | 0.98 | 0 |
17:7675064:T | S183* | stop_gained | 0.98 | 0 |
17:7673807:G | E271D | missense_variant | 0.98 | 0 |
17:7673807:A | E271D | missense_variant | 0.98 | 0 |
17:7675215:A | M133L | missense_variant | 0.97 | 0 |
17:7675215:C | M133V | missense_variant | 0.97 | 0 |
17:7675215:G | M133L | missense_variant | 0.97 | 0 |
17:7673824:A | G266* | stop_gained | 0.97 | 0 |
17:7670694:A | E339* | stop_gained | 0.97 | 0 |
17:7670658:A | K351* | stop_gained | 0.97 | 0 |
17:7673555:A | G325* | stop_gained | 0.97 | 0 |
17:7676011:A | K120* | stop_gained | 0.97 | 0 |
17:7673567:A | K321* | stop_gained | 0.97 | 0 |
17:7674187:G | D259A | missense_variant | 0.97 | 0 |
17:7674187:C | D259G | missense_variant | 0.97 | 0 |
17:7673782:A | R280* | stop_gained | 0.97 | 0 |
17:7674909:G | D208H | missense_variant | 0.97 | 0 |
17:7674909:A | D208Y | missense_variant | 0.97 | 0 |
17:7673759:A | E287D | missense_variant | 0.97 | 0 |
17:7673765:A | E285D | missense_variant | 0.97 | 0 |
17:7673765:G | E285D | missense_variant | 0.97 | 0 |
17:7674216:G | R249S | missense_variant | 0.97 | 0 |
17:7676088:T | S94* | stop_gained | 0.96 | 0 |
17:7676522:A | L25L | splice_region_variant | 0.96 | 0 |
17:7674885:G | V216L | missense_variant | 0.96 | 0 |
17:7674885:A | V216L | missense_variant | 0.96 | 0 |
17:7674885:T | V216M | missense_variant | 0.96 | 0 |
17:7676527:T | W23* | stop_gained | 0.96 | 0 |
17:7674894:C | R213G | missense_variant | 0.96 | 0 |
17:7674916:T | Y205* | stop_gained | 0.96 | 0 |
17:7674916:C | Y205* | stop_gained | 0.96 | 0 |
17:7673707:A | K305* | stop_gained | 0.96 | 0 |
17:7674237:T | C242* | stop_gained | 0.96 | 0 |
17:7670664:A | E349* | stop_gained | 0.96 | 0 |
17:7675109:A | H168L | missense_variant | 0.95 | 0 |
17:7675109:G | H168P | missense_variant | 0.95 | 0 |
17:7675066:T | C182* | stop_gained | 0.95 | 0 |
17:7676071:A | Q100* | stop_gained | 0.95 | 0 |
17:7675207:T | C135* | stop_gained | 0.95 | 0 |
17:7676028:T | L114* | stop_gained | 0.95 | 0 |
17:7673780:A | R280S | missense_variant | 0.95 | 0 |
17:7673780:G | R280S | missense_variant | 0.95 | 0 |
17:7675123:T | Y163* | stop_gained | 0.94 | 0 |
17:7675123:C | Y163* | stop_gained | 0.94 | 0 |
17:7676210:T | W53* | stop_gained | 0.94 | 0 |
17:7669674:A | K373* | stop_gained | 0.94 | 0 |
17:7669635:A | K386* | stop_gained | 0.94 | 0 |
17:7669647:A | K382* | stop_gained | 0.94 | 0 |
17:7669683:A | K370* | stop_gained | 0.94 | 0 |
17:7669677:A | K372* | stop_gained | 0.94 | 0 |
17:7676549:A | Q16* | stop_gained | 0.94 | 0 |
17:7676203:A | E56* | stop_gained | 0.94 | 0 |
17:7676257:A | Q38* | stop_gained | 0.94 | 0 |
17:7670649:A | Q354* | stop_gained | 0.94 | 0 |
17:7676218:A | E51* | stop_gained | 0.94 | 0 |
17:7676396:A | E28* | stop_gained | 0.94 | 0 |
17:7673728:A | E298* | stop_gained | 0.94 | 0 |
17:7675119:A | Q165* | stop_gained | 0.94 | 0 |
17:7676241:T | L43* | stop_gained | 0.94 | 0 |
17:7669616:T | S392* | stop_gained | 0.93 | 0 |
17:7669616:C | S392* | stop_gained | 0.93 | 0 |
17:7675099:A | E171D | missense_variant | 0.93 | 0 |
17:7675099:G | E171D | missense_variant | 0.93 | 0 |
17:7670637:A | E358* | stop_gained | 0.93 | 0 |
17:7675169:A | D148V | missense_variant | 0.93 | 0 |
17:7675169:C | D148G | missense_variant | 0.93 | 0 |
17:7675169:G | D148A | missense_variant | 0.93 | 0 |
17:7675170:G | D148H | missense_variant | 0.93 | 0 |
17:7675170:A | D148Y | missense_variant | 0.93 | 0 |
17:7669650:A | K381* | stop_gained | 0.92 | 0 |
17:7676040:G | R110P | missense_variant | 0.92 | 0 |
17:7676040:T | R110H | missense_variant | 0.92 | 0 |
17:7676382:A | L32L | splice_region_variant | 0.92 | 0 |
17:7676382:T | L32L | splice_region_variant | 0.92 | 0 |
17:7676382:G | L32L | splice_region_variant | 0.92 | 0 |
17:7675115:T | S166* | stop_gained | 0.92 | 0 |
17:7675115:C | S166* | stop_gained | 0.92 | 0 |
17:7675146:C | R156G | missense_variant | 0.92 | 0 |
17:7675146:A | R156C | missense_variant | 0.92 | 0 |
17:7675146:T | R156S | missense_variant | 0.92 | 0 |
17:7676265:T | L35* | stop_gained | 0.92 | 0 |
17:7675075:T | H179Q | missense_variant | 0.92 | 0 |
17:7675075:C | H179Q | missense_variant | 0.92 | 0 |
17:7676041:C | R110G | missense_variant | 0.91 | 0 |
17:7676041:A | R110C | missense_variant | 0.91 | 0 |
17:7675213:A | M133I | missense_variant | 0.91 | 0 |
17:7675213:T | M133I | missense_variant | 0.91 | 0 |
17:7675213:G | M133I | missense_variant | 0.91 | 0 |
17:7676526:T | W23* | stop_gained | 0.91 | 0 |
17:7676588:A | E3* | stop_gained | 0.91 | 0 |
17:7674186:T | D259E | missense_variant | 0.90 | 0 |
17:7674186:C | D259E | missense_variant | 0.90 | 0 |
17:7675997:T | C124* | stop_gained | 0.90 | 0 |
17:7674906:A | R209* | stop_gained | 0.90 | 0 |
17:7676384:A | L32L | splice_region_variant | 0.89 | 0 |
17:7674871:T | Y220* | stop_gained | 0.89 | 0 |
17:7674871:C | Y220* | stop_gained | 0.89 | 0 |
17:7674944:G | R196P | missense_variant | 0.88 | 0 |
17:7674944:T | R196Q | missense_variant | 0.88 | 0 |
17:7674944:A | R196L | missense_variant | 0.88 | 0 |
17:7674936:T | G199R | missense_variant | 0.88 | 0 |
17:7674936:G | G199R | missense_variant | 0.88 | 0 |
17:7674935:T | G199E | missense_variant | 0.88 | 0 |
17:7674935:G | G199A | missense_variant | 0.88 | 0 |
17:7675084:C | C176W | missense_variant | 0.88 | 0 |
17:7675207:C | C135W | missense_variant | 0.88 | 0 |
17:7675168:T | D148E | missense_variant | 0.88 | 0 |
17:7675168:C | D148E | missense_variant | 0.88 | 0 |
17:7669690:A | S367S | splice_region_variant | 0.88 | 0 |
17:7675098:T | V172I | missense_variant | 0.88 | 0 |
17:7675098:A | V172F | missense_variant | 0.88 | 0 |
17:7675098:G | V172L | missense_variant | 0.88 | 0 |
17:7676060:C | Y103* | stop_gained | 0.88 | 0 |
17:7676060:T | Y103* | stop_gained | 0.88 | 0 |
17:7675074:G | E180Q | missense_variant | 0.88 | 0 |
17:7675074:T | E180K | missense_variant | 0.88 | 0 |
17:7674929:T | L201* | stop_gained | 0.87 | 0 |
17:7674188:G | D259H | missense_variant | 0.86 | 0 |
17:7674188:T | D259N | missense_variant | 0.86 | 0 |
17:7674249:C | C238W | missense_variant | 0.86 | 0 |
17:7674255:T | Y236* | stop_gained | 0.85 | 0 |
17:7674255:C | Y236* | stop_gained | 0.85 | 0 |
17:7673795:T | C275* | stop_gained | 0.85 | 0 |
17:7674262:A | Y234F | missense_variant | 0.84 | 0 |
17:7674262:G | Y234S | missense_variant | 0.84 | 0 |
17:7675106:C | M169R | missense_variant | 0.82 | 0 |
17:7675106:T | M169K | missense_variant | 0.82 | 0 |
17:7675106:G | M169T | missense_variant | 0.82 | 0 |
17:7674194:C | L257V | missense_variant | 0.78 | 0 |
17:7674194:T | L257M | missense_variant | 0.78 | 0 |
17:7674887:A | S215I | missense_variant | 0.77 | 0 |
17:7674888:G | S215R | missense_variant | 0.77 | 0 |
17:7674888:C | S215G | missense_variant | 0.77 | 0 |
17:7674888:A | S215C | missense_variant | 0.77 | 0 |
17:7674887:T | S215N | missense_variant | 0.77 | 0 |
17:7674887:G | S215T | missense_variant | 0.77 | 0 |
17:7675107:A | M169L | missense_variant | 0.77 | 0 |
17:7675107:G | M169L | missense_variant | 0.77 | 0 |
17:7675107:C | M169V | missense_variant | 0.77 | 0 |
17:7674261:T | Y234* | stop_gained | 0.72 | 0 |
17:7674261:C | Y234* | stop_gained | 0.72 | 0 |
17:7674889:T | H214Q | missense_variant | 0.72 | 0 |
17:7674889:C | H214Q | missense_variant | 0.72 | 0 |
17:7673606:A | L308L | splice_region_variant | 0.70 | 0 |
17:7673806:G | V272L | missense_variant | 0.67 | 0 |
17:7673806:T | V272M | missense_variant | 0.67 | 0 |
17:7673806:A | V272L | missense_variant | 0.67 | 0 |
17:7674249:T | C238* | stop_gained | 0.66 | 0 |
17:7675152:A | G154C | missense_variant | 0.66 | 0 |
17:7675152:T | G154S | missense_variant | 0.66 | 0 |
17:7675152:G | G154R | missense_variant | 0.66 | 0 |
17:7674939:G | E198Q | missense_variant | 0.66 | 0 |
17:7674939:T | E198K | missense_variant | 0.66 | 0 |
17:7674952:C | H193Q | missense_variant | 0.65 | 0 |
17:7674952:T | H193Q | missense_variant | 0.65 | 0 |
17:7675119:C | Q165E | missense_variant | 0.65 | 0 |
17:7675119:T | Q165K | missense_variant | 0.65 | 0 |
17:7674281:G | D228H | missense_variant | 0.64 | 0 |
17:7674281:A | D228Y | missense_variant | 0.64 | 0 |
17:7674899:C | T211S | missense_variant | 0.64 | 0 |
17:7674899:A | T211I | missense_variant | 0.64 | 0 |
17:7674899:T | T211N | missense_variant | 0.64 | 0 |
17:7675134:G | M160L | missense_variant | 0.64 | 0 |
17:7675134:A | M160L | missense_variant | 0.64 | 0 |
17:7675134:C | M160V | missense_variant | 0.64 | 0 |
17:7675234:A | Y126Y | splice_region_variant | 0.64 | 0 |
17:7676013:T | A119D | missense_variant | 0.60 | 0 |
17:7676013:A | A119V | missense_variant | 0.60 | 0 |
17:7676013:C | A119G | missense_variant | 0.60 | 0 |
17:7674918:G | Y205H | missense_variant | 0.60 | 0 |
17:7674918:T | Y205N | missense_variant | 0.60 | 0 |
17:7674918:C | Y205D | missense_variant | 0.60 | 0 |
17:7675187:T | P142H | missense_variant | 0.60 | 0 |
17:7675187:C | P142R | missense_variant | 0.60 | 0 |
17:7675187:A | P142L | missense_variant | 0.60 | 0 |
17:7674189:G | E258D | missense_variant | 0.57 | 0 |
17:7674189:A | E258D | missense_variant | 0.57 | 0 |
17:7674884:T | V216E | missense_variant | 0.57 | 0 |
17:7674884:G | V216A | missense_variant | 0.57 | 0 |
17:7674884:C | V216G | missense_variant | 0.57 | 0 |
17:7674962:A | P190L | missense_variant | 0.56 | 0 |
17:7674962:C | P190R | missense_variant | 0.56 | 0 |
17:7674962:T | P190H | missense_variant | 0.56 | 0 |
17:7675113:T | Q167K | missense_variant | 0.55 | 0 |
17:7675113:C | Q167E | missense_variant | 0.55 | 0 |
17:7673794:A | A276S | missense_variant | 0.55 | 0 |
17:7673764:T | E286K | missense_variant | 0.55 | 0 |
17:7673794:G | A276P | missense_variant | 0.55 | 0 |
17:7673820:T | R267Q | missense_variant | 0.55 | 0 |
17:7673820:G | R267P | missense_variant | 0.55 | 0 |
17:7673764:G | E286Q | missense_variant | 0.55 | 0 |
17:7673824:T | G266R | missense_variant | 0.55 | 0 |
17:7673824:G | G266R | missense_variant | 0.55 | 0 |
17:7673823:G | G266A | missense_variant | 0.55 | 0 |
17:7673820:A | R267L | missense_variant | 0.55 | 0 |
17:7673823:A | G266V | missense_variant | 0.55 | 0 |
17:7673794:T | A276T | missense_variant | 0.55 | 0 |
17:7674908:A | D208V | missense_variant | 0.55 | 0 |
17:7674908:G | D208A | missense_variant | 0.55 | 0 |
17:7674917:A | Y205F | missense_variant | 0.55 | 0 |
17:7674917:C | Y205C | missense_variant | 0.55 | 0 |
17:7674917:G | Y205S | missense_variant | 0.55 | 0 |
17:7674908:C | D208G | missense_variant | 0.55 | 0 |
17:7675235:A | Y126F | missense_variant | 0.55 | 0 |
17:7675235:G | Y126S | missense_variant | 0.55 | 0 |
17:7675235:C | Y126C | missense_variant | 0.55 | 0 |
17:7675066:C | C182W | missense_variant | 0.55 | 0 |
17:7675184:T | V143E | missense_variant | 0.54 | 0 |
17:7675184:C | V143G | missense_variant | 0.54 | 0 |
17:7675223:G | L130P | missense_variant | 0.53 | 0 |
17:7675223:C | L130R | missense_variant | 0.53 | 0 |
17:7675223:T | L130H | missense_variant | 0.53 | 0 |
17:7675080:C | H178D | missense_variant | 0.52 | 0 |
17:7675080:T | H178N | missense_variant | 0.52 | 0 |
17:7675080:A | H178Y | missense_variant | 0.52 | 0 |
17:7673607:G | A307A | splice_region_variant | 0.52 | 0 |
17:7673607:C | A307A | splice_region_variant | 0.52 | 0 |
17:7673607:A | A307A | splice_region_variant | 0.52 | 0 |
17:7675236:C | Y126D | missense_variant | 0.52 | 0 |
17:7675236:G | Y126H | missense_variant | 0.52 | 0 |
17:7675236:T | Y126N | missense_variant | 0.52 | 0 |
17:7674875:T | P219H | missense_variant | 0.50 | 0 |
17:7674876:A | P219S | missense_variant | 0.50 | 0 |
17:7674876:C | P219A | missense_variant | 0.50 | 0 |
17:7674876:T | P219T | missense_variant | 0.50 | 0 |
17:7674875:A | P219L | missense_variant | 0.50 | 0 |
17:7674875:C | P219R | missense_variant | 0.50 | 0 |
17:7674183:A | S260S | splice_region_variant | 0.50 | 0 |
17:7674183:C | S260S | splice_region_variant | 0.50 | 0 |
17:7674183:T | S260S | splice_region_variant | 0.50 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(BLCA) Bladder cancer | BLCA | 0.57 | 0.40 |