Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
2:177234217:C | R34G | missense_variant | 1.00 | 7 |
2:177234071:A | E82D | missense_variant | 0.98 | 6 |
2:177234076:T | G81S | missense_variant | 0.99 | 2 |
2:177234075:A | G81V | missense_variant | 0.99 | 1 |
2:177234076:A | G81C | missense_variant | 0.99 | 1 |
2:177234079:G | T80P | missense_variant | 0.99 | 1 |
2:177234078:C | T80R | missense_variant | 0.99 | 1 |
2:177234232:G | D29H | missense_variant | 0.95 | 1 |
2:177234241:T | Q26K | missense_variant | 0.95 | 1 |
2:177231257:T | R449H | missense_variant | 0.82 | 1 |
2:177231672:T | E311K | missense_variant | 0.76 | 1 |
2:177230916:T | E563K | missense_variant | 0.70 | 1 |
2:177234190:C | R43G | missense_variant | 0.53 | 1 |
2:177234073:G | E82Q | missense_variant | 0.99 | 0 |
2:177234075:G | G81A | missense_variant | 0.99 | 0 |
2:177234075:T | G81D | missense_variant | 0.99 | 0 |
2:177234073:T | E82K | missense_variant | 0.99 | 0 |
2:177234076:G | G81R | missense_variant | 0.99 | 0 |
2:177234239:G | Q26H | missense_variant | 0.99 | 0 |
2:177234239:A | Q26H | missense_variant | 0.99 | 0 |
2:177234079:A | T80S | missense_variant | 0.99 | 0 |
2:177234072:G | E82A | missense_variant | 0.99 | 0 |
2:177234079:C | T80A | missense_variant | 0.99 | 0 |
2:177234072:C | E82G | missense_variant | 0.99 | 0 |
2:177234072:A | E82V | missense_variant | 0.99 | 0 |
2:177234078:A | T80I | missense_variant | 0.99 | 0 |
2:177234078:T | T80K | missense_variant | 0.99 | 0 |
2:177234071:G | E82D | missense_variant | 0.98 | 0 |
2:177234225:T | G31E | missense_variant | 0.97 | 0 |
2:177234225:G | G31A | missense_variant | 0.97 | 0 |
2:177234225:A | G31V | missense_variant | 0.97 | 0 |
2:177234244:A | R25W | missense_variant | 0.97 | 0 |
2:177234244:C | R25G | missense_variant | 0.97 | 0 |
2:177234236:C | D27E | missense_variant | 0.97 | 0 |
2:177234236:T | D27E | missense_variant | 0.97 | 0 |
2:177234243:A | R25M | missense_variant | 0.96 | 0 |
2:177234243:G | R25T | missense_variant | 0.96 | 0 |
2:177234243:T | R25K | missense_variant | 0.96 | 0 |
2:177234235:G | I28L | missense_variant | 0.96 | 0 |
2:177234235:C | I28V | missense_variant | 0.96 | 0 |
2:177234235:A | I28L | missense_variant | 0.96 | 0 |
2:177234222:G | V32A | missense_variant | 0.95 | 0 |
2:177234222:C | V32G | missense_variant | 0.95 | 0 |
2:177234222:T | V32E | missense_variant | 0.95 | 0 |
2:177234217:A | R34* | stop_gained | 0.95 | 0 |
2:177234216:G | R34P | missense_variant | 0.95 | 0 |
2:177234238:T | D27N | missense_variant | 0.95 | 0 |
2:177234238:G | D27H | missense_variant | 0.95 | 0 |
2:177234238:A | D27Y | missense_variant | 0.95 | 0 |
2:177234245:A | W24C | missense_variant | 0.95 | 0 |
2:177234223:A | V32L | missense_variant | 0.95 | 0 |
2:177234223:G | V32L | missense_variant | 0.95 | 0 |
2:177234223:T | V32I | missense_variant | 0.95 | 0 |
2:177234245:G | W24C | missense_variant | 0.95 | 0 |
2:177234219:T | S33N | missense_variant | 0.95 | 0 |
2:177234219:G | S33T | missense_variant | 0.95 | 0 |
2:177234219:A | S33I | missense_variant | 0.95 | 0 |
2:177234226:G | G31R | missense_variant | 0.95 | 0 |
2:177234216:T | R34Q | missense_variant | 0.95 | 0 |
2:177234232:A | D29Y | missense_variant | 0.95 | 0 |
2:177234226:T | G31R | missense_variant | 0.95 | 0 |
2:177234216:A | R34L | missense_variant | 0.95 | 0 |
2:177234232:T | D29N | missense_variant | 0.95 | 0 |
2:177234240:G | Q26P | missense_variant | 0.95 | 0 |
2:177234231:A | D29V | missense_variant | 0.95 | 0 |
2:177234231:C | D29G | missense_variant | 0.95 | 0 |
2:177234237:G | D27A | missense_variant | 0.95 | 0 |
2:177234240:A | Q26L | missense_variant | 0.95 | 0 |
2:177234237:C | D27G | missense_variant | 0.95 | 0 |
2:177234237:A | D27V | missense_variant | 0.95 | 0 |
2:177234231:G | D29A | missense_variant | 0.95 | 0 |
2:177234240:C | Q26R | missense_variant | 0.95 | 0 |
2:177234228:G | L30P | missense_variant | 0.95 | 0 |
2:177234241:C | Q26E | missense_variant | 0.95 | 0 |
2:177234234:T | I28K | missense_variant | 0.95 | 0 |
2:177234234:G | I28T | missense_variant | 0.95 | 0 |
2:177234234:C | I28R | missense_variant | 0.95 | 0 |
2:177234229:T | L30I | missense_variant | 0.95 | 0 |
2:177234229:C | L30V | missense_variant | 0.95 | 0 |
2:177234229:A | L30F | missense_variant | 0.95 | 0 |
2:177234228:T | L30H | missense_variant | 0.95 | 0 |
2:177234228:C | L30R | missense_variant | 0.95 | 0 |
2:177234073:A | E82* | stop_gained | 0.93 | 0 |
2:177234246:A | W24L | missense_variant | 0.93 | 0 |
2:177234246:G | W24S | missense_variant | 0.93 | 0 |
2:177234082:T | E79K | missense_variant | 0.93 | 0 |
2:177234082:G | E79Q | missense_variant | 0.93 | 0 |
2:177234081:G | E79A | missense_variant | 0.93 | 0 |
2:177234081:C | E79G | missense_variant | 0.93 | 0 |
2:177234081:A | E79V | missense_variant | 0.93 | 0 |
2:177234247:C | W24G | missense_variant | 0.93 | 0 |
2:177234247:T | W24R | missense_variant | 0.93 | 0 |
2:177234247:G | W24R | missense_variant | 0.93 | 0 |
2:177231974:A | T210I | missense_variant | 0.83 | 0 |
2:177231974:C | T210S | missense_variant | 0.83 | 0 |
2:177231974:T | T210N | missense_variant | 0.83 | 0 |
2:177234141:A | Q59L | missense_variant | 0.83 | 0 |
2:177234141:C | Q59R | missense_variant | 0.83 | 0 |
2:177234141:G | Q59P | missense_variant | 0.83 | 0 |
2:177231618:A | N329Y | missense_variant | 0.82 | 0 |
2:177231257:G | R449P | missense_variant | 0.82 | 0 |
2:177234130:C | Q63E | missense_variant | 0.82 | 0 |
2:177234130:T | Q63K | missense_variant | 0.82 | 0 |
2:177234193:C | R42G | missense_variant | 0.82 | 0 |
2:177234091:T | L76I | missense_variant | 0.82 | 0 |
2:177234091:C | L76V | missense_variant | 0.82 | 0 |
2:177231257:A | R449L | missense_variant | 0.82 | 0 |
2:177231618:C | N329D | missense_variant | 0.82 | 0 |
2:177231618:G | N329H | missense_variant | 0.82 | 0 |
2:177234143:G | R58S | missense_variant | 0.82 | 0 |
2:177234143:A | R58S | missense_variant | 0.82 | 0 |
2:177234162:G | K52T | missense_variant | 0.80 | 0 |
2:177231160:T | F481L | missense_variant | 0.80 | 0 |
2:177230809:G | K598N | missense_variant | 0.80 | 0 |
2:177230809:A | K598N | missense_variant | 0.80 | 0 |
2:177231160:C | F481L | missense_variant | 0.80 | 0 |
2:177230970:T | E545K | missense_variant | 0.80 | 0 |
2:177230970:G | E545Q | missense_variant | 0.80 | 0 |
2:177234162:C | K52R | missense_variant | 0.80 | 0 |
2:177234162:A | K52I | missense_variant | 0.80 | 0 |
2:177231864:T | L247I | missense_variant | 0.80 | 0 |
2:177231864:C | L247V | missense_variant | 0.80 | 0 |
2:177231864:A | L247F | missense_variant | 0.80 | 0 |
2:177232439:A | D183Y | missense_variant | 0.79 | 0 |
2:177232439:T | D183N | missense_variant | 0.79 | 0 |
2:177232439:G | D183H | missense_variant | 0.79 | 0 |
2:177233283:G | L123F | missense_variant | 0.78 | 0 |
2:177233283:A | L123F | missense_variant | 0.78 | 0 |
2:177231408:G | S399P | missense_variant | 0.77 | 0 |
2:177231408:T | S399T | missense_variant | 0.77 | 0 |
2:177231408:C | S399A | missense_variant | 0.77 | 0 |
2:177234126:A | K64M | missense_variant | 0.77 | 0 |
2:177230856:T | L583M | missense_variant | 0.77 | 0 |
2:177234126:C | K64R | missense_variant | 0.77 | 0 |
2:177230856:C | L583V | missense_variant | 0.77 | 0 |
2:177234126:G | K64T | missense_variant | 0.77 | 0 |
2:177231407:T | S399Y | missense_variant | 0.77 | 0 |
2:177231407:C | S399C | missense_variant | 0.77 | 0 |
2:177231407:A | S399F | missense_variant | 0.77 | 0 |
2:177231012:A | H531Y | missense_variant | 0.77 | 0 |
2:177231012:T | H531N | missense_variant | 0.77 | 0 |
2:177231012:C | H531D | missense_variant | 0.77 | 0 |
2:177231672:G | E311Q | missense_variant | 0.76 | 0 |
2:177264557:T | P7Q | missense_variant | 0.76 | 0 |
2:177232529:C | S153G | missense_variant | 0.76 | 0 |
2:177232529:G | S153R | missense_variant | 0.76 | 0 |
2:177264557:C | P7R | missense_variant | 0.76 | 0 |
2:177232529:A | S153C | missense_variant | 0.76 | 0 |
2:177264557:A | P7L | missense_variant | 0.76 | 0 |
2:177231660:A | G315W | missense_variant | 0.76 | 0 |
2:177231660:G | G315R | missense_variant | 0.76 | 0 |
2:177231660:T | G315R | missense_variant | 0.76 | 0 |
2:177234140:A | Q59H | missense_variant | 0.76 | 0 |
2:177234140:G | Q59H | missense_variant | 0.76 | 0 |
2:177230908:C | F565L | missense_variant | 0.76 | 0 |
2:177230908:T | F565L | missense_variant | 0.76 | 0 |
2:177234180:C | Y46C | missense_variant | 0.76 | 0 |
2:177234180:G | Y46S | missense_variant | 0.76 | 0 |
2:177232564:C | Q141R | missense_variant | 0.76 | 0 |
2:177234180:A | Y46F | missense_variant | 0.76 | 0 |
2:177232564:A | Q141L | missense_variant | 0.76 | 0 |
2:177232564:G | Q141P | missense_variant | 0.76 | 0 |
2:177231837:C | S256G | missense_variant | 0.75 | 0 |
2:177231837:G | S256R | missense_variant | 0.75 | 0 |
2:177231837:A | S256C | missense_variant | 0.75 | 0 |
2:177233294:C | M120V | missense_variant | 0.75 | 0 |
2:177233294:G | M120L | missense_variant | 0.75 | 0 |
2:177233294:A | M120L | missense_variant | 0.75 | 0 |
2:177231701:A | S301L | missense_variant | 0.74 | 0 |
2:177232495:A | S164L | missense_variant | 0.74 | 0 |
2:177230810:A | K598M | missense_variant | 0.74 | 0 |
2:177230810:G | K598T | missense_variant | 0.74 | 0 |
2:177230810:C | K598R | missense_variant | 0.74 | 0 |
2:177234226:A | G31* | stop_gained | 0.72 | 0 |
2:177234245:T | W24* | stop_gained | 0.72 | 0 |
2:177231828:C | S259A | missense_variant | 0.72 | 0 |
2:177231828:T | S259T | missense_variant | 0.72 | 0 |
2:177231828:G | S259P | missense_variant | 0.72 | 0 |
2:177232426:T | V187D | missense_variant | 0.72 | 0 |
2:177231815:A | P263L | missense_variant | 0.72 | 0 |
2:177231815:C | P263R | missense_variant | 0.72 | 0 |
2:177231815:T | P263H | missense_variant | 0.72 | 0 |
2:177232426:G | V187A | missense_variant | 0.72 | 0 |
2:177232426:C | V187G | missense_variant | 0.72 | 0 |
2:177232567:G | F140S | missense_variant | 0.72 | 0 |
2:177232567:C | F140C | missense_variant | 0.72 | 0 |
2:177232567:T | F140Y | missense_variant | 0.72 | 0 |
2:177231545:G | S353T | missense_variant | 0.72 | 0 |
2:177231545:A | S353I | missense_variant | 0.72 | 0 |
2:177231545:T | S353N | missense_variant | 0.72 | 0 |
2:177234241:A | Q26* | stop_gained | 0.71 | 0 |
2:177234242:A | R25S | missense_variant | 0.71 | 0 |
2:177234242:G | R25S | missense_variant | 0.71 | 0 |
2:177231435:C | Q390E | missense_variant | 0.71 | 0 |
2:177264537:T | Q14K | missense_variant | 0.71 | 0 |
2:177231435:T | Q390K | missense_variant | 0.71 | 0 |
2:177231758:A | G282V | missense_variant | 0.71 | 0 |
2:177231758:G | G282A | missense_variant | 0.71 | 0 |
2:177231758:T | G282D | missense_variant | 0.71 | 0 |
2:177264537:C | Q14E | missense_variant | 0.71 | 0 |
2:177233330:C | I108V | missense_variant | 0.71 | 0 |
2:177233330:A | I108F | missense_variant | 0.71 | 0 |
2:177233330:G | I108L | missense_variant | 0.71 | 0 |
2:177233339:T | V105I | missense_variant | 0.71 | 0 |
2:177231992:A | N204I | missense_variant | 0.71 | 0 |
2:177231992:C | N204S | missense_variant | 0.71 | 0 |
2:177231992:G | N204T | missense_variant | 0.71 | 0 |
2:177232429:C | Q186R | missense_variant | 0.71 | 0 |
2:177232429:G | Q186P | missense_variant | 0.71 | 0 |
2:177231235:A | R456S | missense_variant | 0.71 | 0 |
2:177233339:G | V105L | missense_variant | 0.71 | 0 |
2:177233339:A | V105F | missense_variant | 0.71 | 0 |
2:177231235:G | R456S | missense_variant | 0.71 | 0 |
2:177232429:A | Q186L | missense_variant | 0.71 | 0 |
2:177231181:C | I474M | missense_variant | 0.71 | 0 |
2:177234041:C | I92M | missense_variant | 0.71 | 0 |
2:177234260:G | L19F | missense_variant | 0.71 | 0 |
2:177234260:A | L19F | missense_variant | 0.71 | 0 |
2:177231822:G | E261Q | missense_variant | 0.70 | 0 |
2:177230868:C | S579G | missense_variant | 0.70 | 0 |
2:177230868:A | S579C | missense_variant | 0.70 | 0 |
2:177231822:T | E261K | missense_variant | 0.70 | 0 |
2:177230843:A | R587I | missense_variant | 0.70 | 0 |
2:177230868:G | S579R | missense_variant | 0.70 | 0 |
2:177230843:T | R587K | missense_variant | 0.70 | 0 |
2:177230843:G | R587T | missense_variant | 0.70 | 0 |
2:177231809:A | Q265L | missense_variant | 0.70 | 0 |
2:177230916:G | E563Q | missense_variant | 0.70 | 0 |
2:177231809:C | Q265R | missense_variant | 0.70 | 0 |
2:177231809:G | Q265P | missense_variant | 0.70 | 0 |
2:177231948:G | K219Q | missense_variant | 0.70 | 0 |
2:177231843:T | F254I | missense_variant | 0.70 | 0 |
2:177231843:G | F254L | missense_variant | 0.70 | 0 |
2:177231843:C | F254V | missense_variant | 0.70 | 0 |
2:177231948:C | K219E | missense_variant | 0.70 | 0 |
2:177234220:A | S33C | missense_variant | 0.70 | 0 |
2:177234220:G | S33R | missense_variant | 0.70 | 0 |
2:177234220:C | S33G | missense_variant | 0.70 | 0 |
2:177233264:A | V130L | missense_variant | 0.70 | 0 |
2:177233264:T | V130I | missense_variant | 0.70 | 0 |
2:177233264:G | V130L | missense_variant | 0.70 | 0 |
2:177232576:A | S137L | missense_variant | 0.70 | 0 |
2:177232576:C | S137W | missense_variant | 0.70 | 0 |
2:177231296:G | H436P | missense_variant | 0.70 | 0 |
2:177231296:C | H436R | missense_variant | 0.70 | 0 |
2:177231296:A | H436L | missense_variant | 0.70 | 0 |
2:177231875:T | S243N | missense_variant | 0.70 | 0 |
2:177231875:G | S243T | missense_variant | 0.70 | 0 |
2:177231875:A | S243I | missense_variant | 0.70 | 0 |
2:177231494:C | L370R | missense_variant | 0.70 | 0 |
2:177231494:T | L370Q | missense_variant | 0.70 | 0 |
2:177231494:G | L370P | missense_variant | 0.70 | 0 |
2:177234230:C | D29E | missense_variant | 0.70 | 0 |
2:177234230:T | D29E | missense_variant | 0.70 | 0 |
2:177234025:T | G98R | missense_variant | 0.70 | 0 |
2:177234025:G | G98R | missense_variant | 0.70 | 0 |
2:177234218:C | S33R | missense_variant | 0.70 | 0 |
2:177234218:T | S33R | missense_variant | 0.70 | 0 |
2:177234233:C | I28M | missense_variant | 0.70 | 0 |
2:177232573:A | A138V | missense_variant | 0.69 | 0 |
2:177232573:T | A138D | missense_variant | 0.69 | 0 |
2:177232583:A | V135F | missense_variant | 0.69 | 0 |
2:177232421:T | E189K | missense_variant | 0.69 | 0 |
2:177232421:G | E189Q | missense_variant | 0.69 | 0 |
2:177232573:C | A138G | missense_variant | 0.69 | 0 |
2:177232583:T | V135I | missense_variant | 0.69 | 0 |
2:177232583:G | V135L | missense_variant | 0.69 | 0 |
2:177230968:A | E545D | missense_variant | 0.69 | 0 |
2:177231326:T | P426Q | missense_variant | 0.69 | 0 |
2:177231326:C | P426R | missense_variant | 0.69 | 0 |
2:177231326:A | P426L | missense_variant | 0.69 | 0 |
2:177230968:G | E545D | missense_variant | 0.69 | 0 |
2:177231773:C | V277G | missense_variant | 0.69 | 0 |
2:177231773:G | V277A | missense_variant | 0.69 | 0 |
2:177231773:T | V277D | missense_variant | 0.69 | 0 |
2:177231324:T | E427K | missense_variant | 0.69 | 0 |
2:177231324:G | E427Q | missense_variant | 0.69 | 0 |
2:177230905:C | S566R | missense_variant | 0.69 | 0 |
2:177230905:T | S566R | missense_variant | 0.69 | 0 |
2:177231957:A | P216S | missense_variant | 0.69 | 0 |
2:177231957:C | P216A | missense_variant | 0.69 | 0 |
2:177231957:T | P216T | missense_variant | 0.69 | 0 |
2:177231558:C | N349D | missense_variant | 0.69 | 0 |
2:177231558:G | N349H | missense_variant | 0.69 | 0 |
2:177231558:A | N349Y | missense_variant | 0.69 | 0 |
2:177231729:T | E292K | missense_variant | 0.68 | 0 |
2:177231729:G | E292Q | missense_variant | 0.68 | 0 |
2:177231380:A | S408L | missense_variant | 0.67 | 0 |
2:177231023:A | Q527L | missense_variant | 0.67 | 0 |
2:177231023:G | Q527P | missense_variant | 0.67 | 0 |
2:177231023:C | Q527R | missense_variant | 0.67 | 0 |
2:177231232:C | D457E | missense_variant | 0.67 | 0 |
2:177234034:G | E95Q | missense_variant | 0.67 | 0 |
2:177234034:T | E95K | missense_variant | 0.67 | 0 |
2:177231232:T | D457E | missense_variant | 0.67 | 0 |
2:177231593:A | A337V | missense_variant | 0.66 | 0 |
2:177231593:C | A337G | missense_variant | 0.66 | 0 |
2:177231593:T | A337E | missense_variant | 0.66 | 0 |
2:177234246:T | W24* | stop_gained | 0.65 | 0 |
2:177234082:A | E79* | stop_gained | 0.65 | 0 |
2:177234007:C | Q104E | missense_variant | 0.64 | 0 |
2:177234007:T | Q104K | missense_variant | 0.64 | 0 |
2:177231390:C | Q405E | missense_variant | 0.64 | 0 |
2:177230972:T | G544E | missense_variant | 0.64 | 0 |
2:177230972:G | G544A | missense_variant | 0.64 | 0 |
2:177230972:A | G544V | missense_variant | 0.64 | 0 |
2:177231390:T | Q405K | missense_variant | 0.64 | 0 |
2:177231205:C | I466M | missense_variant | 0.63 | 0 |
2:177234080:G | E79D | missense_variant | 0.63 | 0 |
2:177234080:A | E79D | missense_variant | 0.63 | 0 |
2:177231574:T | D343E | missense_variant | 0.63 | 0 |
2:177231574:C | D343E | missense_variant | 0.63 | 0 |
2:177264554:C | P8R | missense_variant | 0.63 | 0 |
2:177264554:T | P8Q | missense_variant | 0.63 | 0 |
2:177264554:A | P8L | missense_variant | 0.63 | 0 |
2:177264551:T | P9Q | missense_variant | 0.63 | 0 |
2:177264551:A | P9L | missense_variant | 0.63 | 0 |
2:177264551:C | P9R | missense_variant | 0.63 | 0 |
2:177231556:C | N349K | missense_variant | 0.62 | 0 |
2:177231556:T | N349K | missense_variant | 0.62 | 0 |
2:177230964:T | D547N | missense_variant | 0.62 | 0 |
2:177230964:G | D547H | missense_variant | 0.62 | 0 |
2:177230964:A | D547Y | missense_variant | 0.62 | 0 |
2:177264565:G | L4F | missense_variant | 0.62 | 0 |
2:177264565:A | L4F | missense_variant | 0.62 | 0 |
2:177231600:A | S335C | missense_variant | 0.61 | 0 |
2:177231229:G | E458D | missense_variant | 0.61 | 0 |
2:177231600:C | S335G | missense_variant | 0.61 | 0 |
2:177231600:G | S335R | missense_variant | 0.61 | 0 |
2:177231229:A | E458D | missense_variant | 0.61 | 0 |
2:177231530:G | E358A | missense_variant | 0.61 | 0 |
2:177231530:A | E358V | missense_variant | 0.61 | 0 |
2:177231530:C | E358G | missense_variant | 0.61 | 0 |
2:177231386:C | P406R | missense_variant | 0.61 | 0 |
2:177231386:T | P406H | missense_variant | 0.61 | 0 |
2:177231386:A | P406L | missense_variant | 0.61 | 0 |
2:177234069:T | F83Y | missense_variant | 0.59 | 0 |
2:177234069:C | F83C | missense_variant | 0.59 | 0 |
2:177234069:G | F83S | missense_variant | 0.59 | 0 |
2:177230952:A | H551Y | missense_variant | 0.58 | 0 |
2:177230952:C | H551D | missense_variant | 0.58 | 0 |
2:177230952:T | H551N | missense_variant | 0.58 | 0 |
2:177231416:A | P396L | missense_variant | 0.58 | 0 |
2:177234058:C | Q87E | missense_variant | 0.58 | 0 |
2:177234058:T | Q87K | missense_variant | 0.58 | 0 |
2:177231416:T | P396Q | missense_variant | 0.58 | 0 |
2:177231416:C | P396R | missense_variant | 0.58 | 0 |
2:177230790:G | N605H | missense_variant | 0.57 | 0 |
2:177230790:C | N605D | missense_variant | 0.57 | 0 |
2:177230790:A | N605Y | missense_variant | 0.57 | 0 |
2:177234054:C | P88R | missense_variant | 0.57 | 0 |
2:177234054:A | P88L | missense_variant | 0.57 | 0 |
2:177234054:T | P88Q | missense_variant | 0.57 | 0 |
2:177231998:T | I202N | missense_variant | 0.57 | 0 |
2:177234121:C | Q66E | missense_variant | 0.57 | 0 |
2:177234121:T | Q66K | missense_variant | 0.57 | 0 |
2:177231632:C | L324R | missense_variant | 0.57 | 0 |
2:177231632:G | L324P | missense_variant | 0.57 | 0 |
2:177231998:G | I202T | missense_variant | 0.57 | 0 |
2:177231998:C | I202S | missense_variant | 0.57 | 0 |
2:177231632:T | L324H | missense_variant | 0.57 | 0 |
2:177231737:G | F289S | missense_variant | 0.57 | 0 |
2:177231737:T | F289Y | missense_variant | 0.57 | 0 |
2:177231737:C | F289C | missense_variant | 0.57 | 0 |
2:177230897:T | R569H | missense_variant | 0.57 | 0 |
2:177232531:A | E152V | missense_variant | 0.57 | 0 |
2:177232531:C | E152G | missense_variant | 0.57 | 0 |
2:177232531:G | E152A | missense_variant | 0.57 | 0 |
2:177230897:A | R569L | missense_variant | 0.57 | 0 |
2:177230897:G | R569P | missense_variant | 0.57 | 0 |
2:177231014:C | D530G | missense_variant | 0.55 | 0 |
2:177231014:A | D530V | missense_variant | 0.55 | 0 |
2:177231014:G | D530A | missense_variant | 0.55 | 0 |
2:177230930:A | S558I | missense_variant | 0.54 | 0 |
2:177230930:G | S558T | missense_variant | 0.54 | 0 |
2:177230930:T | S558N | missense_variant | 0.54 | 0 |
2:177231800:T | V268E | missense_variant | 0.54 | 0 |
2:177231800:G | V268A | missense_variant | 0.54 | 0 |
2:177231800:C | V268G | missense_variant | 0.54 | 0 |
2:177230806:G | K599N | missense_variant | 0.54 | 0 |
2:177230806:A | K599N | missense_variant | 0.54 | 0 |
2:177231963:T | P214T | missense_variant | 0.54 | 0 |
2:177231963:A | P214S | missense_variant | 0.54 | 0 |
2:177231963:C | P214A | missense_variant | 0.54 | 0 |
2:177230975:A | K543I | missense_variant | 0.54 | 0 |
2:177230975:C | K543R | missense_variant | 0.54 | 0 |
2:177230975:G | K543T | missense_variant | 0.54 | 0 |
2:177233252:T | E134K | missense_variant | 0.54 | 0 |
2:177233252:G | E134Q | missense_variant | 0.54 | 0 |
2:177231939:T | E222K | missense_variant | 0.53 | 0 |
2:177231939:G | E222Q | missense_variant | 0.53 | 0 |
2:177233281:C | A124G | missense_variant | 0.53 | 0 |
2:177231651:A | D318Y | missense_variant | 0.53 | 0 |
2:177231651:T | D318N | missense_variant | 0.53 | 0 |
2:177231651:G | D318H | missense_variant | 0.53 | 0 |
2:177233281:A | A124V | missense_variant | 0.53 | 0 |
2:177233281:T | A124E | missense_variant | 0.53 | 0 |
2:177231692:T | T304N | missense_variant | 0.53 | 0 |
2:177231692:A | T304I | missense_variant | 0.53 | 0 |
2:177231692:C | T304S | missense_variant | 0.53 | 0 |
2:177231108:A | R499W | missense_variant | 0.53 | 0 |
2:177231108:C | R499G | missense_variant | 0.53 | 0 |
2:177234257:C | I20M | missense_variant | 0.53 | 0 |
2:177231821:G | E261A | missense_variant | 0.53 | 0 |
2:177231821:A | E261V | missense_variant | 0.53 | 0 |
2:177231821:C | E261G | missense_variant | 0.53 | 0 |
2:177234190:A | R43W | missense_variant | 0.53 | 0 |
2:177231333:G | N424H | missense_variant | 0.50 | 0 |
2:177231333:A | N424Y | missense_variant | 0.50 | 0 |
2:177231333:C | N424D | missense_variant | 0.50 | 0 |
2:177231687:C | S306G | missense_variant | 0.50 | 0 |
2:177231687:A | S306C | missense_variant | 0.50 | 0 |
2:177231687:G | S306R | missense_variant | 0.50 | 0 |
2:177231153:A | M484L | missense_variant | 0.50 | 0 |
2:177231153:G | M484L | missense_variant | 0.50 | 0 |
2:177231153:C | M484V | missense_variant | 0.50 | 0 |
2:177230813:T | S597N | missense_variant | 0.50 | 0 |
2:177230813:G | S597T | missense_variant | 0.50 | 0 |
2:177230813:A | S597I | missense_variant | 0.50 | 0 |
2:177231602:A | E334V | missense_variant | 0.50 | 0 |
2:177231602:G | E334A | missense_variant | 0.50 | 0 |
2:177231602:C | E334G | missense_variant | 0.50 | 0 |
2:177232460:G | D176H | missense_variant | 0.50 | 0 |
2:177232460:A | D176Y | missense_variant | 0.50 | 0 |
2:177232460:T | D176N | missense_variant | 0.50 | 0 |
2:177231266:C | H446R | missense_variant | 0.50 | 0 |
2:177231266:A | H446L | missense_variant | 0.50 | 0 |
2:177231266:G | H446P | missense_variant | 0.50 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(UCEC) Endometrial cancer | UCEC | 0.53 | 0.11 |