Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
18:51078418:G | D537G | missense_variant | 0.98 | 3 |
18:51065548:T | R361C | missense_variant | 1.00 | 2 |
18:51065548:G | R361G | missense_variant | 1.00 | 1 |
18:51065549:A | R361H | missense_variant | 1.00 | 1 |
18:51065556:A | C363* | stop_gained | 1.00 | 1 |
18:51065518:A | D351N | missense_variant | 1.00 | 1 |
18:51078394:A | L529* | stop_gained | 1.00 | 1 |
18:51065563:T | Q366* | stop_gained | 1.00 | 1 |
18:51076750:A | S474* | stop_gained | 1.00 | 1 |
18:51065519:G | D351G | missense_variant | 1.00 | 1 |
18:51067027:G | I383R | missense_variant | 0.99 | 1 |
18:51048782:T | Q116* | stop_gained | 0.99 | 1 |
18:51065533:T | P356S | missense_variant | 0.98 | 1 |
18:51078303:C | C499R | missense_variant | 0.93 | 1 |
18:51048830:G | H132D | missense_variant | 0.92 | 1 |
18:51067187:T | K436N | missense_variant | 0.71 | 1 |
18:51065455:A | E330K | missense_variant | 0.71 | 1 |
18:51065548:A | R361S | missense_variant | 1.00 | 0 |
18:51065549:C | R361P | missense_variant | 1.00 | 0 |
18:51065549:T | R361L | missense_variant | 1.00 | 0 |
18:51065518:C | D351H | missense_variant | 1.00 | 0 |
18:51065518:T | D351Y | missense_variant | 1.00 | 0 |
18:51065520:G | D351E | missense_variant | 1.00 | 0 |
18:51065520:A | D351E | missense_variant | 1.00 | 0 |
18:51065521:T | G352* | stop_gained | 1.00 | 0 |
18:51076662:T | R445* | stop_gained | 1.00 | 0 |
18:51078347:G | Y513* | stop_gained | 1.00 | 0 |
18:51078347:A | Y513* | stop_gained | 1.00 | 0 |
18:51078394:G | L529* | stop_gained | 1.00 | 0 |
18:51078301:A | L498* | stop_gained | 1.00 | 0 |
18:51078301:G | L498* | stop_gained | 1.00 | 0 |
18:51078305:A | C499* | stop_gained | 1.00 | 0 |
18:51067115:G | Y412* | stop_gained | 1.00 | 0 |
18:51067115:A | Y412* | stop_gained | 1.00 | 0 |
18:51065561:A | G365D | missense_variant | 1.00 | 0 |
18:51065561:T | G365V | missense_variant | 1.00 | 0 |
18:51065561:C | G365A | missense_variant | 1.00 | 0 |
18:51067052:A | C391* | stop_gained | 1.00 | 0 |
18:51067169:G | Y430* | stop_gained | 1.00 | 0 |
18:51067169:A | Y430* | stop_gained | 1.00 | 0 |
18:51067118:A | Y413* | stop_gained | 1.00 | 0 |
18:51067118:G | Y413* | stop_gained | 1.00 | 0 |
18:51065439:A | C324* | stop_gained | 1.00 | 0 |
18:51048849:A | S138* | stop_gained | 1.00 | 0 |
18:51048849:G | S138* | stop_gained | 1.00 | 0 |
18:51078351:T | R515* | stop_gained | 1.00 | 0 |
18:51076750:G | S474* | stop_gained | 1.00 | 0 |
18:51065532:G | D355E | missense_variant | 1.00 | 0 |
18:51065532:A | D355E | missense_variant | 1.00 | 0 |
18:51065526:A | Y353* | stop_gained | 1.00 | 0 |
18:51065526:G | Y353* | stop_gained | 1.00 | 0 |
18:51065556:G | C363W | missense_variant | 1.00 | 0 |
18:51054859:A | S178* | stop_gained | 1.00 | 0 |
18:51054859:G | S178* | stop_gained | 1.00 | 0 |
18:51065554:G | C363G | missense_variant | 1.00 | 0 |
18:51065554:C | C363R | missense_variant | 1.00 | 0 |
18:51065554:A | C363S | missense_variant | 1.00 | 0 |
18:51065530:T | D355Y | missense_variant | 1.00 | 0 |
18:51065530:A | D355N | missense_variant | 1.00 | 0 |
18:51065530:C | D355H | missense_variant | 1.00 | 0 |
18:51065555:A | C363Y | missense_variant | 1.00 | 0 |
18:51065560:A | G365S | missense_variant | 1.00 | 0 |
18:51065560:C | G365R | missense_variant | 1.00 | 0 |
18:51065555:C | C363S | missense_variant | 1.00 | 0 |
18:51065555:T | C363F | missense_variant | 1.00 | 0 |
18:51065560:T | G365C | missense_variant | 1.00 | 0 |
18:51065519:C | D351A | missense_variant | 1.00 | 0 |
18:51065519:T | D351V | missense_variant | 1.00 | 0 |
18:51078377:A | C523* | stop_gained | 1.00 | 0 |
18:51065495:A | S343* | stop_gained | 1.00 | 0 |
18:51065495:G | S343* | stop_gained | 1.00 | 0 |
18:51065599:T | R378* | stop_gained | 1.00 | 0 |
18:51076648:A | L440* | stop_gained | 1.00 | 0 |
18:51078366:T | E520* | stop_gained | 1.00 | 0 |
18:51065558:A | L364* | stop_gained | 1.00 | 0 |
18:51065539:T | G358* | stop_gained | 1.00 | 0 |
18:51065542:T | G359* | stop_gained | 1.00 | 0 |
18:51076658:A | C443* | stop_gained | 1.00 | 0 |
18:51048829:A | Y131* | stop_gained | 1.00 | 0 |
18:51048829:G | Y131* | stop_gained | 1.00 | 0 |
18:51067107:T | Q410* | stop_gained | 1.00 | 0 |
18:51067041:T | Q388* | stop_gained | 1.00 | 0 |
18:51058202:T | Q249* | stop_gained | 1.00 | 0 |
18:51065455:T | E330* | stop_gained | 1.00 | 0 |
18:51065436:A | W323* | stop_gained | 1.00 | 0 |
18:51065435:A | W323* | stop_gained | 1.00 | 0 |
18:51065473:T | G336* | stop_gained | 1.00 | 0 |
18:51065596:T | E377* | stop_gained | 1.00 | 0 |
18:51065587:T | E374* | stop_gained | 1.00 | 0 |
18:51076677:T | Q450* | stop_gained | 1.00 | 0 |
18:51076674:T | Q449* | stop_gained | 1.00 | 0 |
18:51076653:T | Q442* | stop_gained | 1.00 | 0 |
18:51076665:T | Q446* | stop_gained | 1.00 | 0 |
18:51076671:T | Q448* | stop_gained | 1.00 | 0 |
18:51076710:T | Q461* | stop_gained | 1.00 | 0 |
18:51076692:T | Q455* | stop_gained | 1.00 | 0 |
18:51065521:C | G352R | missense_variant | 1.00 | 0 |
18:51065521:A | G352R | missense_variant | 1.00 | 0 |
18:51065515:T | V350F | missense_variant | 1.00 | 0 |
18:51065515:C | V350L | missense_variant | 1.00 | 0 |
18:51065515:A | V350I | missense_variant | 1.00 | 0 |
18:51065467:T | Q334* | stop_gained | 1.00 | 0 |
18:51067053:T | K392* | stop_gained | 1.00 | 0 |
18:51067082:A | C401* | stop_gained | 1.00 | 0 |
18:51065433:G | Y322* | stop_gained | 1.00 | 0 |
18:51065433:A | Y322* | stop_gained | 1.00 | 0 |
18:51078354:T | Q516* | stop_gained | 1.00 | 0 |
18:51065522:T | G352V | missense_variant | 1.00 | 0 |
18:51065522:A | G352E | missense_variant | 1.00 | 0 |
18:51065522:C | G352A | missense_variant | 1.00 | 0 |
18:51067125:T | R416* | stop_gained | 1.00 | 0 |
18:51054787:A | S154* | stop_gained | 1.00 | 0 |
18:51054787:G | S154* | stop_gained | 1.00 | 0 |
18:51065502:A | C345* | stop_gained | 0.99 | 0 |
18:51065451:A | Y328* | stop_gained | 0.99 | 0 |
18:51065451:G | Y328* | stop_gained | 0.99 | 0 |
18:51067035:T | G386C | missense_variant | 0.99 | 0 |
18:51067035:A | G386S | missense_variant | 0.99 | 0 |
18:51067035:C | G386R | missense_variant | 0.99 | 0 |
18:51067036:A | G386D | missense_variant | 0.99 | 0 |
18:51067036:C | G386A | missense_variant | 0.99 | 0 |
18:51067036:T | G386V | missense_variant | 0.99 | 0 |
18:51054911:A | Y195* | stop_gained | 0.99 | 0 |
18:51054911:G | Y195* | stop_gained | 0.99 | 0 |
18:51078379:A | W524* | stop_gained | 0.99 | 0 |
18:51078384:T | E526* | stop_gained | 0.99 | 0 |
18:51078334:A | W509* | stop_gained | 0.99 | 0 |
18:51078335:A | W509* | stop_gained | 0.99 | 0 |
18:51078336:T | G510* | stop_gained | 0.99 | 0 |
18:51078380:A | W524* | stop_gained | 0.99 | 0 |
18:51076746:T | G473* | stop_gained | 0.99 | 0 |
18:51076758:T | G477* | stop_gained | 0.99 | 0 |
18:51076728:T | G467* | stop_gained | 0.99 | 0 |
18:51078262:A | S485* | stop_gained | 0.99 | 0 |
18:51078262:G | S485* | stop_gained | 0.99 | 0 |
18:51048781:A | C115* | stop_gained | 0.99 | 0 |
18:51058417:T | Q289* | stop_gained | 0.99 | 0 |
18:51058127:T | Q224* | stop_gained | 0.99 | 0 |
18:51065516:A | V350D | missense_variant | 0.99 | 0 |
18:51065516:C | V350A | missense_variant | 0.99 | 0 |
18:51065524:G | Y353D | missense_variant | 0.99 | 0 |
18:51065524:C | Y353H | missense_variant | 0.99 | 0 |
18:51065524:A | Y353N | missense_variant | 0.99 | 0 |
18:51065516:G | V350G | missense_variant | 0.99 | 0 |
18:51065534:G | P356R | missense_variant | 0.99 | 0 |
18:51065534:T | P356L | missense_variant | 0.99 | 0 |
18:51065534:A | P356H | missense_variant | 0.99 | 0 |
18:51047272:T | R76* | stop_gained | 0.99 | 0 |
18:51067027:A | I383K | missense_variant | 0.99 | 0 |
18:51067027:C | I383T | missense_variant | 0.99 | 0 |
18:51047125:T | R27* | stop_gained | 0.99 | 0 |
18:51067059:T | E394* | stop_gained | 0.99 | 0 |
18:51067128:T | E417* | stop_gained | 0.99 | 0 |
18:51067047:T | E390* | stop_gained | 0.99 | 0 |
18:51067073:A | W398* | stop_gained | 0.99 | 0 |
18:51067072:A | W398* | stop_gained | 0.99 | 0 |
18:51067146:T | G423* | stop_gained | 0.99 | 0 |
18:51067181:G | Y434* | stop_gained | 0.99 | 0 |
18:51067181:A | Y434* | stop_gained | 0.99 | 0 |
18:51048817:A | C127* | stop_gained | 0.99 | 0 |
18:51058190:T | Q245* | stop_gained | 0.99 | 0 |
18:51058182:A | S242* | stop_gained | 0.99 | 0 |
18:51058182:G | S242* | stop_gained | 0.99 | 0 |
18:51078417:T | D537Y | missense_variant | 0.99 | 0 |
18:51078417:C | D537H | missense_variant | 0.99 | 0 |
18:51078402:A | A532T | missense_variant | 0.99 | 0 |
18:51078402:C | A532P | missense_variant | 0.99 | 0 |
18:51078402:T | A532S | missense_variant | 0.99 | 0 |
18:51078417:A | D537N | missense_variant | 0.99 | 0 |
18:51058391:A | L280* | stop_gained | 0.99 | 0 |
18:51049301:G | S144* | stop_gained | 0.99 | 0 |
18:51054898:A | S191* | stop_gained | 0.99 | 0 |
18:51049301:A | S144* | stop_gained | 0.99 | 0 |
18:51078408:T | Q534* | stop_gained | 0.99 | 0 |
18:51048721:G | Y95* | stop_gained | 0.99 | 0 |
18:51048721:A | Y95* | stop_gained | 0.99 | 0 |
18:51078460:A | L551* | stop_gained | 0.99 | 0 |
18:51078460:G | L551* | stop_gained | 0.99 | 0 |
18:51054828:T | G168* | stop_gained | 0.99 | 0 |
18:51065428:T | E321* | stop_gained | 0.99 | 0 |
18:51065476:T | E337* | stop_gained | 0.99 | 0 |
18:51054841:A | L172* | stop_gained | 0.99 | 0 |
18:51058172:T | Q239* | stop_gained | 0.99 | 0 |
18:51054852:T | G176* | stop_gained | 0.99 | 0 |
18:51078273:T | G489* | stop_gained | 0.99 | 0 |
18:51078420:T | E538* | stop_gained | 0.99 | 0 |
18:51049315:T | Q149* | stop_gained | 0.99 | 0 |
18:51054838:A | S171* | stop_gained | 0.99 | 0 |
18:51048839:T | R135* | stop_gained | 0.99 | 0 |
18:51049307:G | L146* | stop_gained | 0.99 | 0 |
18:51049307:A | L146* | stop_gained | 0.99 | 0 |
18:51058205:T | Q250* | stop_gained | 0.99 | 0 |
18:51058223:T | Q256* | stop_gained | 0.99 | 0 |
18:51048805:A | C123* | stop_gained | 0.99 | 0 |
18:51047259:A | C71* | stop_gained | 0.99 | 0 |
18:51065531:C | D355A | missense_variant | 0.99 | 0 |
18:51065531:T | D355V | missense_variant | 0.99 | 0 |
18:51065531:G | D355G | missense_variant | 0.99 | 0 |
18:51058380:G | Y276* | stop_gained | 0.99 | 0 |
18:51058380:A | Y276* | stop_gained | 0.99 | 0 |
18:51058199:T | Q248* | stop_gained | 0.99 | 0 |
18:51067187:A | K436K | splice_region_variant | 0.99 | 0 |
18:51048752:T | K106* | stop_gained | 0.99 | 0 |
18:51065533:G | P356A | missense_variant | 0.98 | 0 |
18:51065533:A | P356T | missense_variant | 0.98 | 0 |
18:51058170:A | L238* | stop_gained | 0.98 | 0 |
18:51058402:T | Q284* | stop_gained | 0.98 | 0 |
18:51058455:A | Y301* | stop_gained | 0.98 | 0 |
18:51058455:G | Y301* | stop_gained | 0.98 | 0 |
18:51047094:A | C16* | stop_gained | 0.98 | 0 |
18:51048787:A | Y117* | stop_gained | 0.98 | 0 |
18:51048787:G | Y117* | stop_gained | 0.98 | 0 |
18:51047121:A | C25* | stop_gained | 0.98 | 0 |
18:51058237:G | Y260* | stop_gained | 0.98 | 0 |
18:51058237:A | Y260* | stop_gained | 0.98 | 0 |
18:51048798:A | L121* | stop_gained | 0.98 | 0 |
18:51048798:G | L121* | stop_gained | 0.98 | 0 |
18:51049303:T | G145* | stop_gained | 0.98 | 0 |
18:51048778:G | Y114* | stop_gained | 0.98 | 0 |
18:51048778:A | Y114* | stop_gained | 0.98 | 0 |
18:51047128:T | Q28* | stop_gained | 0.98 | 0 |
18:51047293:T | Q83* | stop_gained | 0.98 | 0 |
18:51047269:T | Q75* | stop_gained | 0.98 | 0 |
18:51067045:A | L389* | stop_gained | 0.98 | 0 |
18:51067021:A | L381* | stop_gained | 0.98 | 0 |
18:51067120:G | L414* | stop_gained | 0.98 | 0 |
18:51067120:A | L414* | stop_gained | 0.98 | 0 |
18:51054812:G | Y162* | stop_gained | 0.98 | 0 |
18:51054812:A | Y162* | stop_gained | 0.98 | 0 |
18:51047155:T | K37* | stop_gained | 0.98 | 0 |
18:51078453:T | Q549* | stop_gained | 0.98 | 0 |
18:51058356:A | W268* | stop_gained | 0.98 | 0 |
18:51058355:A | W268* | stop_gained | 0.98 | 0 |
18:51048764:T | K110* | stop_gained | 0.98 | 0 |
18:51054807:T | E161* | stop_gained | 0.98 | 0 |
18:51054825:T | E167* | stop_gained | 0.98 | 0 |
18:51054831:T | Q169* | stop_gained | 0.98 | 0 |
18:51059892:T | Q311* | stop_gained | 0.98 | 0 |
18:51048800:T | K122* | stop_gained | 0.98 | 0 |
18:51059880:T | E307* | stop_gained | 0.98 | 0 |
18:51059867:A | W302* | stop_gained | 0.98 | 0 |
18:51059866:A | W302* | stop_gained | 0.98 | 0 |
18:51058160:T | E235* | stop_gained | 0.98 | 0 |
18:51067026:T | I383L | missense_variant | 0.98 | 0 |
18:51067026:G | I383V | missense_variant | 0.98 | 0 |
18:51067026:C | I383L | missense_variant | 0.98 | 0 |
18:51058360:T | G270* | stop_gained | 0.98 | 0 |
18:51047158:T | R38* | stop_gained | 0.98 | 0 |
18:51058447:T | G299* | stop_gained | 0.98 | 0 |
18:51048698:T | K88* | stop_gained | 0.98 | 0 |
18:51047279:A | L78* | stop_gained | 0.98 | 0 |
18:51047114:A | L23* | stop_gained | 0.98 | 0 |
18:51047174:A | L43* | stop_gained | 0.98 | 0 |
18:51047207:A | L54* | stop_gained | 0.98 | 0 |
18:51047216:A | L57* | stop_gained | 0.98 | 0 |
18:51047216:G | L57* | stop_gained | 0.98 | 0 |
18:51078418:C | D537A | missense_variant | 0.98 | 0 |
18:51078418:T | D537V | missense_variant | 0.98 | 0 |
18:51067161:T | K428* | stop_gained | 0.98 | 0 |
18:51054849:T | E175* | stop_gained | 0.97 | 0 |
18:51048836:T | E134* | stop_gained | 0.97 | 0 |
18:51047191:T | E49* | stop_gained | 0.97 | 0 |
18:51047179:T | K45* | stop_gained | 0.97 | 0 |
18:51048835:A | Y133* | stop_gained | 0.97 | 0 |
18:51048835:G | Y133* | stop_gained | 0.97 | 0 |
18:51048854:T | G140* | stop_gained | 0.97 | 0 |
18:51078327:T | K507* | stop_gained | 0.97 | 0 |
18:51048773:T | K113* | stop_gained | 0.97 | 0 |
18:51065525:T | Y353F | missense_variant | 0.97 | 0 |
18:51065525:C | Y353S | missense_variant | 0.97 | 0 |
18:51065525:G | Y353C | missense_variant | 0.97 | 0 |
18:51047239:T | G65* | stop_gained | 0.97 | 0 |
18:51058163:T | G236* | stop_gained | 0.97 | 0 |
18:51058211:T | G252* | stop_gained | 0.97 | 0 |
18:51054928:G | L201* | stop_gained | 0.97 | 0 |
18:51054928:A | L201* | stop_gained | 0.97 | 0 |
18:51054903:T | E193* | stop_gained | 0.97 | 0 |
18:51054939:T | E205* | stop_gained | 0.97 | 0 |
18:51067032:T | K385* | stop_gained | 0.97 | 0 |
18:51054873:T | Q183* | stop_gained | 0.97 | 0 |
18:51054864:T | Q180* | stop_gained | 0.97 | 0 |
18:51047134:T | G30* | stop_gained | 0.97 | 0 |
18:51047203:T | E53* | stop_gained | 0.97 | 0 |
18:51047167:T | E41* | stop_gained | 0.97 | 0 |
18:51047143:T | E33* | stop_gained | 0.97 | 0 |
18:51048732:A | W99* | stop_gained | 0.97 | 0 |
18:51048733:A | W99* | stop_gained | 0.97 | 0 |
18:51048738:A | W101* | stop_gained | 0.97 | 0 |
18:51048739:A | W101* | stop_gained | 0.97 | 0 |
18:51048758:T | E108* | stop_gained | 0.97 | 0 |
18:51047137:T | E31* | stop_gained | 0.97 | 0 |
18:51047188:T | K48* | stop_gained | 0.96 | 0 |
18:51067028:G | I383M | missense_variant | 0.96 | 0 |
18:51067185:T | K436* | stop_gained | 0.96 | 0 |
18:51048701:T | G89* | stop_gained | 0.96 | 0 |
18:51058196:T | G247* | stop_gained | 0.96 | 0 |
18:51078403:T | A532V | missense_variant | 0.96 | 0 |
18:51078403:G | A532G | missense_variant | 0.96 | 0 |
18:51078403:A | A532D | missense_variant | 0.96 | 0 |
18:51078363:T | K519* | stop_gained | 0.95 | 0 |
18:51047194:T | K50* | stop_gained | 0.95 | 0 |
18:51047182:T | K46* | stop_gained | 0.95 | 0 |
18:51047197:T | K51* | stop_gained | 0.95 | 0 |
18:51065485:T | K340* | stop_gained | 0.95 | 0 |
18:51078345:A | Y513N | missense_variant | 0.95 | 0 |
18:51078345:C | Y513H | missense_variant | 0.95 | 0 |
18:51078345:G | Y513D | missense_variant | 0.95 | 0 |
18:51047254:T | K70* | stop_gained | 0.95 | 0 |
18:51048849:T | S138L | missense_variant | 0.94 | 0 |
18:51078325:C | V506A | missense_variant | 0.93 | 0 |
18:51078303:G | C499G | missense_variant | 0.93 | 0 |
18:51078325:G | V506G | missense_variant | 0.93 | 0 |
18:51078322:C | F505S | missense_variant | 0.93 | 0 |
18:51078303:A | C499S | missense_variant | 0.93 | 0 |
18:51078322:G | F505C | missense_variant | 0.93 | 0 |
18:51078301:C | L498S | missense_variant | 0.93 | 0 |
18:51078321:A | F505I | missense_variant | 0.93 | 0 |
18:51078316:G | M503R | missense_variant | 0.93 | 0 |
18:51078321:C | F505L | missense_variant | 0.93 | 0 |
18:51078378:C | W524R | missense_variant | 0.93 | 0 |
18:51078316:A | M503K | missense_variant | 0.93 | 0 |
18:51078322:A | F505Y | missense_variant | 0.93 | 0 |
18:51078333:A | W509R | missense_variant | 0.93 | 0 |
18:51078333:C | W509R | missense_variant | 0.93 | 0 |
18:51078316:C | M503T | missense_variant | 0.93 | 0 |
18:51078325:A | V506E | missense_variant | 0.93 | 0 |
18:51078388:A | I527N | missense_variant | 0.93 | 0 |
18:51078333:G | W509G | missense_variant | 0.93 | 0 |
18:51078394:C | L529S | missense_variant | 0.93 | 0 |
18:51078378:A | W524R | missense_variant | 0.93 | 0 |
18:51078310:G | L501R | missense_variant | 0.93 | 0 |
18:51078310:C | L501P | missense_variant | 0.93 | 0 |
18:51078307:G | I500R | missense_variant | 0.93 | 0 |
18:51078307:C | I500T | missense_variant | 0.93 | 0 |
18:51078388:C | I527T | missense_variant | 0.93 | 0 |
18:51078361:A | I518N | missense_variant | 0.93 | 0 |
18:51078361:C | I518T | missense_variant | 0.93 | 0 |
18:51078361:G | I518S | missense_variant | 0.93 | 0 |
18:51078310:A | L501H | missense_variant | 0.93 | 0 |
18:51078321:G | F505V | missense_variant | 0.93 | 0 |
18:51078375:C | C523R | missense_variant | 0.93 | 0 |
18:51078307:A | I500K | missense_variant | 0.93 | 0 |
18:51078378:G | W524G | missense_variant | 0.93 | 0 |
18:51078375:G | C523G | missense_variant | 0.93 | 0 |
18:51078375:A | C523S | missense_variant | 0.93 | 0 |
18:51078382:A | I525N | missense_variant | 0.93 | 0 |
18:51078382:C | I525T | missense_variant | 0.93 | 0 |
18:51078382:G | I525S | missense_variant | 0.93 | 0 |
18:51078388:G | I527S | missense_variant | 0.93 | 0 |
18:51078427:G | L540R | missense_variant | 0.93 | 0 |
18:51078406:A | L533H | missense_variant | 0.93 | 0 |
18:51078406:C | L533P | missense_variant | 0.93 | 0 |
18:51078406:G | L533R | missense_variant | 0.93 | 0 |
18:51078412:A | L535H | missense_variant | 0.93 | 0 |
18:51078412:C | L535P | missense_variant | 0.93 | 0 |
18:51078412:G | L535R | missense_variant | 0.93 | 0 |
18:51078415:A | L536Q | missense_variant | 0.93 | 0 |
18:51078415:C | L536P | missense_variant | 0.93 | 0 |
18:51078415:G | L536R | missense_variant | 0.93 | 0 |
18:51058453:A | Y301N | missense_variant | 0.93 | 0 |
18:51058453:C | Y301H | missense_variant | 0.93 | 0 |
18:51058453:G | Y301D | missense_variant | 0.93 | 0 |
18:51058456:A | W302R | missense_variant | 0.93 | 0 |
18:51058456:C | W302R | missense_variant | 0.93 | 0 |
18:51058456:G | W302G | missense_variant | 0.93 | 0 |
18:51078424:A | V539E | missense_variant | 0.93 | 0 |
18:51078427:C | L540P | missense_variant | 0.93 | 0 |
18:51078427:A | L540H | missense_variant | 0.93 | 0 |
18:51078424:G | V539G | missense_variant | 0.93 | 0 |
18:51078424:C | V539A | missense_variant | 0.93 | 0 |
18:51078436:G | M543R | missense_variant | 0.93 | 0 |
18:51078436:C | M543T | missense_variant | 0.93 | 0 |
18:51078436:A | M543K | missense_variant | 0.93 | 0 |
18:51054801:T | K159* | stop_gained | 0.93 | 0 |
18:51048708:A | P91H | missense_variant | 0.92 | 0 |
18:51048824:A | P130T | missense_variant | 0.92 | 0 |
18:51048824:T | P130S | missense_variant | 0.92 | 0 |
18:51048789:T | A118V | missense_variant | 0.92 | 0 |
18:51048789:G | A118G | missense_variant | 0.92 | 0 |
18:51048789:A | A118E | missense_variant | 0.92 | 0 |
18:51048825:A | P130Q | missense_variant | 0.92 | 0 |
18:51048767:T | H111Y | missense_variant | 0.92 | 0 |
18:51048767:G | H111D | missense_variant | 0.92 | 0 |
18:51048767:A | H111N | missense_variant | 0.92 | 0 |
18:51048825:G | P130R | missense_variant | 0.92 | 0 |
18:51048825:T | P130L | missense_variant | 0.92 | 0 |
18:51048749:T | H105Y | missense_variant | 0.92 | 0 |
18:51048749:G | H105D | missense_variant | 0.92 | 0 |
18:51048749:A | H105N | missense_variant | 0.92 | 0 |
18:51048746:T | L104F | missense_variant | 0.92 | 0 |
18:51048746:G | L104V | missense_variant | 0.92 | 0 |
18:51048746:A | L104I | missense_variant | 0.92 | 0 |
18:51048741:T | P102L | missense_variant | 0.92 | 0 |
18:51048741:G | P102R | missense_variant | 0.92 | 0 |
18:51048741:A | P102H | missense_variant | 0.92 | 0 |
18:51048740:T | P102S | missense_variant | 0.92 | 0 |
18:51048740:G | P102A | missense_variant | 0.92 | 0 |
18:51048740:A | P102T | missense_variant | 0.92 | 0 |
18:51048830:A | H132N | missense_variant | 0.92 | 0 |
18:51048830:T | H132Y | missense_variant | 0.92 | 0 |
18:51048710:T | H92Y | missense_variant | 0.92 | 0 |
18:51048710:G | H92D | missense_variant | 0.92 | 0 |
18:51048710:A | H92N | missense_variant | 0.92 | 0 |
18:51048708:T | P91L | missense_variant | 0.92 | 0 |
18:51048708:G | P91R | missense_variant | 0.92 | 0 |
18:51048824:G | P130A | missense_variant | 0.92 | 0 |
18:51048707:T | P91S | missense_variant | 0.92 | 0 |
18:51048707:G | P91A | missense_variant | 0.92 | 0 |
18:51048707:A | P91T | missense_variant | 0.92 | 0 |
18:51048851:A | P139T | missense_variant | 0.92 | 0 |
18:51048851:G | P139A | missense_variant | 0.92 | 0 |
18:51048851:T | P139S | missense_variant | 0.92 | 0 |
18:51048852:A | P139H | missense_variant | 0.92 | 0 |
18:51048852:G | P139R | missense_variant | 0.92 | 0 |
18:51048852:T | P139L | missense_variant | 0.92 | 0 |
18:51047295:A | Q83Q | splice_region_variant | 0.90 | 0 |
18:51065545:T | D360Y | missense_variant | 0.79 | 0 |
18:51065545:C | D360H | missense_variant | 0.79 | 0 |
18:51065545:A | D360N | missense_variant | 0.79 | 0 |
18:51065543:T | G359V | missense_variant | 0.79 | 0 |
18:51065543:C | G359A | missense_variant | 0.79 | 0 |
18:51065543:A | G359E | missense_variant | 0.79 | 0 |
18:51065542:C | G359R | missense_variant | 0.79 | 0 |
18:51065542:A | G359R | missense_variant | 0.79 | 0 |
18:51065540:T | G358V | missense_variant | 0.79 | 0 |
18:51065540:C | G358A | missense_variant | 0.79 | 0 |
18:51065540:A | G358E | missense_variant | 0.79 | 0 |
18:51065539:C | G358R | missense_variant | 0.79 | 0 |
18:51065539:A | G358R | missense_variant | 0.79 | 0 |
18:51047072:A | T9K | missense_variant | 0.79 | 0 |
18:51047072:G | T9R | missense_variant | 0.79 | 0 |
18:51047072:T | T9I | missense_variant | 0.79 | 0 |
18:51078419:A | D537E | missense_variant | 0.76 | 0 |
18:51078419:G | D537E | missense_variant | 0.76 | 0 |
18:51076639:G | V437G | missense_variant | 0.75 | 0 |
18:51076774:A | I482N | missense_variant | 0.75 | 0 |
18:51076774:C | I482T | missense_variant | 0.75 | 0 |
18:51076774:G | I482S | missense_variant | 0.75 | 0 |
18:51076642:A | F438Y | missense_variant | 0.75 | 0 |
18:51076641:G | F438V | missense_variant | 0.75 | 0 |
18:51076641:C | F438L | missense_variant | 0.75 | 0 |
18:51076641:A | F438I | missense_variant | 0.75 | 0 |
18:51076639:C | V437A | missense_variant | 0.75 | 0 |
18:51076639:A | V437D | missense_variant | 0.75 | 0 |
18:51076656:G | C443G | missense_variant | 0.75 | 0 |
18:51076735:A | I469N | missense_variant | 0.75 | 0 |
18:51076735:C | I469T | missense_variant | 0.75 | 0 |
18:51076735:G | I469S | missense_variant | 0.75 | 0 |
18:51076656:C | C443R | missense_variant | 0.75 | 0 |
18:51076656:A | C443S | missense_variant | 0.75 | 0 |
18:51076648:G | L440W | missense_variant | 0.75 | 0 |
18:51076648:C | L440S | missense_variant | 0.75 | 0 |
18:51076642:G | F438C | missense_variant | 0.75 | 0 |
18:51076669:G | M447R | missense_variant | 0.75 | 0 |
18:51076669:C | M447T | missense_variant | 0.75 | 0 |
18:51076642:C | F438S | missense_variant | 0.75 | 0 |
18:51076753:A | V475E | missense_variant | 0.75 | 0 |
18:51076753:C | V475A | missense_variant | 0.75 | 0 |
18:51076753:G | V475G | missense_variant | 0.75 | 0 |
18:51076669:A | M447K | missense_variant | 0.75 | 0 |
18:51076762:A | I478K | missense_variant | 0.75 | 0 |
18:51076762:C | I478T | missense_variant | 0.75 | 0 |
18:51076762:G | I478R | missense_variant | 0.75 | 0 |
18:51078288:C | D494H | missense_variant | 0.74 | 0 |
18:51078288:A | D494N | missense_variant | 0.74 | 0 |
18:51078274:A | G489E | missense_variant | 0.74 | 0 |
18:51078274:C | G489A | missense_variant | 0.74 | 0 |
18:51078274:T | G489V | missense_variant | 0.74 | 0 |
18:51078279:A | G491S | missense_variant | 0.74 | 0 |
18:51078279:C | G491R | missense_variant | 0.74 | 0 |
18:51078285:T | D493Y | missense_variant | 0.74 | 0 |
18:51078282:T | V492F | missense_variant | 0.74 | 0 |
18:51078298:A | R497H | missense_variant | 0.74 | 0 |
18:51078295:T | R496L | missense_variant | 0.74 | 0 |
18:51078295:C | R496P | missense_variant | 0.74 | 0 |
18:51078282:C | V492L | missense_variant | 0.74 | 0 |
18:51078298:C | R497P | missense_variant | 0.74 | 0 |
18:51078298:T | R497L | missense_variant | 0.74 | 0 |
18:51078282:A | V492I | missense_variant | 0.74 | 0 |
18:51078295:A | R496H | missense_variant | 0.74 | 0 |
18:51078288:T | D494Y | missense_variant | 0.74 | 0 |
18:51078280:A | G491D | missense_variant | 0.74 | 0 |
18:51078279:T | G491C | missense_variant | 0.74 | 0 |
18:51078280:C | G491A | missense_variant | 0.74 | 0 |
18:51078280:T | G491V | missense_variant | 0.74 | 0 |
18:51078285:C | D493H | missense_variant | 0.74 | 0 |
18:51078285:A | D493N | missense_variant | 0.74 | 0 |
18:51047075:A | P10Q | missense_variant | 0.73 | 0 |
18:51047090:A | A15D | missense_variant | 0.73 | 0 |
18:51047075:T | P10L | missense_variant | 0.73 | 0 |
18:51047234:T | T63I | missense_variant | 0.73 | 0 |
18:51047234:G | T63R | missense_variant | 0.73 | 0 |
18:51047234:A | T63K | missense_variant | 0.73 | 0 |
18:51047090:T | A15V | missense_variant | 0.73 | 0 |
18:51047075:G | P10R | missense_variant | 0.73 | 0 |
18:51047090:G | A15G | missense_variant | 0.73 | 0 |
18:51067155:C | V426L | missense_variant | 0.71 | 0 |
18:51067155:T | V426F | missense_variant | 0.71 | 0 |
18:51067187:C | K436N | missense_variant | 0.71 | 0 |
18:51067155:A | V426I | missense_variant | 0.71 | 0 |
18:51067152:C | A425P | missense_variant | 0.71 | 0 |
18:51067152:T | A425S | missense_variant | 0.71 | 0 |
18:51067174:A | S432N | missense_variant | 0.71 | 0 |
18:51067174:C | S432T | missense_variant | 0.71 | 0 |
18:51067174:T | S432I | missense_variant | 0.71 | 0 |
18:51067176:A | A433T | missense_variant | 0.71 | 0 |
18:51067176:C | A433P | missense_variant | 0.71 | 0 |
18:51067176:T | A433S | missense_variant | 0.71 | 0 |
18:51067152:A | A425T | missense_variant | 0.71 | 0 |
18:51065488:A | V341I | missense_variant | 0.71 | 0 |
18:51065438:C | C324S | missense_variant | 0.71 | 0 |
18:51065438:T | C324F | missense_variant | 0.71 | 0 |
18:51065455:C | E330Q | missense_variant | 0.71 | 0 |
18:51065460:A | M331I | missense_variant | 0.71 | 0 |
18:51065460:C | M331I | missense_variant | 0.71 | 0 |
18:51065602:C | A379P | missense_variant | 0.71 | 0 |
18:51065460:T | M331I | missense_variant | 0.71 | 0 |
18:51065461:A | D332N | missense_variant | 0.71 | 0 |
18:51065461:C | D332H | missense_variant | 0.71 | 0 |
18:51065461:T | D332Y | missense_variant | 0.71 | 0 |
18:51065470:A | V335I | missense_variant | 0.71 | 0 |
18:51065470:C | V335L | missense_variant | 0.71 | 0 |
18:51065470:T | V335L | missense_variant | 0.71 | 0 |
18:51065473:A | G336R | missense_variant | 0.71 | 0 |
18:51065473:C | G336R | missense_variant | 0.71 | 0 |
18:51065474:A | G336E | missense_variant | 0.71 | 0 |
18:51065474:C | G336A | missense_variant | 0.71 | 0 |
18:51065474:T | G336V | missense_variant | 0.71 | 0 |
18:51065602:A | A379T | missense_variant | 0.71 | 0 |
18:51065438:A | C324Y | missense_variant | 0.71 | 0 |
18:51065488:C | V341L | missense_variant | 0.71 | 0 |
18:51065488:T | V341F | missense_variant | 0.71 | 0 |
18:51065501:A | C345Y | missense_variant | 0.71 | 0 |
18:51065501:C | C345S | missense_variant | 0.71 | 0 |
18:51065501:T | C345F | missense_variant | 0.71 | 0 |
18:51065509:A | V348I | missense_variant | 0.71 | 0 |
18:51065509:C | V348L | missense_variant | 0.71 | 0 |
18:51065509:T | V348F | missense_variant | 0.71 | 0 |
18:51065527:A | V354M | missense_variant | 0.71 | 0 |
18:51065527:C | V354L | missense_variant | 0.71 | 0 |
18:51065527:T | V354L | missense_variant | 0.71 | 0 |
18:51065596:C | E377Q | missense_variant | 0.71 | 0 |
18:51065596:A | E377K | missense_variant | 0.71 | 0 |
18:51065587:C | E374Q | missense_variant | 0.71 | 0 |
18:51065587:A | E374K | missense_variant | 0.71 | 0 |
18:51065435:C | W323S | missense_variant | 0.71 | 0 |
18:51065606:T | R380M | missense_variant | 0.71 | 0 |
18:51065435:T | W323L | missense_variant | 0.71 | 0 |
18:51065436:C | W323C | missense_variant | 0.71 | 0 |
18:51065436:T | W323C | missense_variant | 0.71 | 0 |
18:51065606:C | R380T | missense_variant | 0.71 | 0 |
18:51065606:A | R380K | missense_variant | 0.71 | 0 |
18:51065602:T | A379S | missense_variant | 0.71 | 0 |
18:51065536:C | S357P | missense_variant | 0.70 | 0 |
18:51065558:G | L364W | missense_variant | 0.70 | 0 |
18:51065558:C | L364S | missense_variant | 0.70 | 0 |
18:51065552:G | F362C | missense_variant | 0.70 | 0 |
18:51065552:C | F362S | missense_variant | 0.70 | 0 |
18:51065552:A | F362Y | missense_variant | 0.70 | 0 |
18:51065551:G | F362V | missense_variant | 0.70 | 0 |
18:51065551:C | F362L | missense_variant | 0.70 | 0 |
18:51065551:A | F362I | missense_variant | 0.70 | 0 |
18:51065536:A | S357T | missense_variant | 0.70 | 0 |
18:51065536:G | S357A | missense_variant | 0.70 | 0 |
18:51076680:T | A451S | missense_variant | 0.70 | 0 |
18:51076680:C | A451P | missense_variant | 0.70 | 0 |
18:51076680:A | A451T | missense_variant | 0.70 | 0 |
18:51065553:A | F362L | missense_variant | 0.69 | 0 |
18:51065553:G | F362L | missense_variant | 0.69 | 0 |
18:51065567:C | L367P | missense_variant | 0.68 | 0 |
18:51065567:G | L367R | missense_variant | 0.68 | 0 |
18:51065567:A | L367H | missense_variant | 0.68 | 0 |
18:51078319:C | S504T | missense_variant | 0.66 | 0 |
18:51078319:A | S504N | missense_variant | 0.66 | 0 |
18:51078319:T | S504I | missense_variant | 0.66 | 0 |
18:51067156:G | V426G | missense_variant | 0.66 | 0 |
18:51067165:C | I429T | missense_variant | 0.66 | 0 |
18:51067165:A | I429N | missense_variant | 0.66 | 0 |
18:51067165:G | I429S | missense_variant | 0.66 | 0 |
18:51067183:G | I435R | missense_variant | 0.66 | 0 |
18:51067156:C | V426A | missense_variant | 0.66 | 0 |
18:51067183:C | I435T | missense_variant | 0.66 | 0 |
18:51067183:A | I435K | missense_variant | 0.66 | 0 |
18:51067167:G | Y430D | missense_variant | 0.66 | 0 |
18:51067167:C | Y430H | missense_variant | 0.66 | 0 |
18:51067167:A | Y430N | missense_variant | 0.66 | 0 |
18:51067156:A | V426D | missense_variant | 0.66 | 0 |
18:51078386:T | E526D | missense_variant | 0.63 | 0 |
18:51078386:C | E526D | missense_variant | 0.63 | 0 |
18:51065547:A | D360E | missense_variant | 0.62 | 0 |
18:51065547:G | D360E | missense_variant | 0.62 | 0 |
18:51048690:T | A85V | missense_variant | 0.62 | 0 |
18:51048690:G | A85G | missense_variant | 0.62 | 0 |
18:51048690:A | A85D | missense_variant | 0.62 | 0 |
18:51067128:C | E417Q | missense_variant | 0.60 | 0 |
18:51067063:C | G395A | missense_variant | 0.60 | 0 |
18:51067063:T | G395V | missense_variant | 0.60 | 0 |
18:51067065:A | D396N | missense_variant | 0.60 | 0 |
18:51067065:C | D396H | missense_variant | 0.60 | 0 |
18:51067065:T | D396Y | missense_variant | 0.60 | 0 |
18:51067068:A | V397I | missense_variant | 0.60 | 0 |
18:51067068:C | V397L | missense_variant | 0.60 | 0 |
18:51067068:T | V397F | missense_variant | 0.60 | 0 |
18:51067062:T | G395C | missense_variant | 0.60 | 0 |
18:51067072:C | W398S | missense_variant | 0.60 | 0 |
18:51067072:T | W398L | missense_variant | 0.60 | 0 |
18:51067062:C | G395R | missense_variant | 0.60 | 0 |
18:51067073:C | W398C | missense_variant | 0.60 | 0 |
18:51067073:T | W398C | missense_variant | 0.60 | 0 |
18:51067078:A | R400K | missense_variant | 0.60 | 0 |
18:51067078:C | R400T | missense_variant | 0.60 | 0 |
18:51067078:T | R400M | missense_variant | 0.60 | 0 |
18:51067081:A | C401Y | missense_variant | 0.60 | 0 |
18:51067081:C | C401S | missense_variant | 0.60 | 0 |
18:51067081:T | C401F | missense_variant | 0.60 | 0 |
18:51067062:A | G395S | missense_variant | 0.60 | 0 |
18:51067087:A | S403N | missense_variant | 0.60 | 0 |
18:51067087:C | S403T | missense_variant | 0.60 | 0 |
18:51067087:T | S403I | missense_variant | 0.60 | 0 |
18:51067089:A | D404N | missense_variant | 0.60 | 0 |
18:51067089:C | D404H | missense_variant | 0.60 | 0 |
18:51067089:T | D404Y | missense_variant | 0.60 | 0 |
18:51067095:A | A406T | missense_variant | 0.60 | 0 |
18:51067095:C | A406P | missense_variant | 0.60 | 0 |
18:51067095:T | A406S | missense_variant | 0.60 | 0 |
18:51067098:A | V407I | missense_variant | 0.60 | 0 |
18:51067098:C | V407L | missense_variant | 0.60 | 0 |
18:51067098:T | V407F | missense_variant | 0.60 | 0 |
18:51067104:A | V409I | missense_variant | 0.60 | 0 |
18:51067104:C | V409L | missense_variant | 0.60 | 0 |
18:51067104:T | V409L | missense_variant | 0.60 | 0 |
18:51067059:C | E394Q | missense_variant | 0.60 | 0 |
18:51067111:A | S411N | missense_variant | 0.60 | 0 |
18:51067111:C | S411T | missense_variant | 0.60 | 0 |
18:51067111:T | S411I | missense_variant | 0.60 | 0 |
18:51067059:A | E394K | missense_variant | 0.60 | 0 |
18:51067057:T | G393V | missense_variant | 0.60 | 0 |
18:51067057:C | G393A | missense_variant | 0.60 | 0 |
18:51067057:A | G393D | missense_variant | 0.60 | 0 |
18:51067056:T | G393C | missense_variant | 0.60 | 0 |
18:51067056:C | G393R | missense_variant | 0.60 | 0 |
18:51067122:A | D415N | missense_variant | 0.60 | 0 |
18:51067122:C | D415H | missense_variant | 0.60 | 0 |
18:51067122:T | D415Y | missense_variant | 0.60 | 0 |
18:51067056:A | G393S | missense_variant | 0.60 | 0 |
18:51067126:A | R416K | missense_variant | 0.60 | 0 |
18:51067126:C | R416T | missense_variant | 0.60 | 0 |
18:51067126:T | R416I | missense_variant | 0.60 | 0 |
18:51067128:A | E417K | missense_variant | 0.60 | 0 |
18:51067063:A | G395D | missense_variant | 0.60 | 0 |
18:51067051:T | C391F | missense_variant | 0.60 | 0 |
18:51067131:A | A418T | missense_variant | 0.60 | 0 |
18:51067131:C | A418P | missense_variant | 0.60 | 0 |
18:51067131:T | A418S | missense_variant | 0.60 | 0 |
18:51067134:A | G419R | missense_variant | 0.60 | 0 |
18:51067134:C | G419R | missense_variant | 0.60 | 0 |
18:51067134:T | G419W | missense_variant | 0.60 | 0 |
18:51067135:A | G419E | missense_variant | 0.60 | 0 |
18:51067135:C | G419A | missense_variant | 0.60 | 0 |
18:51067135:T | G419V | missense_variant | 0.60 | 0 |
18:51067138:A | R420H | missense_variant | 0.60 | 0 |
18:51067138:C | R420P | missense_variant | 0.60 | 0 |
18:51067138:T | R420L | missense_variant | 0.60 | 0 |
18:51067140:A | A421T | missense_variant | 0.60 | 0 |
18:51067140:C | A421P | missense_variant | 0.60 | 0 |
18:51067140:T | A421S | missense_variant | 0.60 | 0 |
18:51067146:A | G423R | missense_variant | 0.60 | 0 |
18:51067146:C | G423R | missense_variant | 0.60 | 0 |
18:51067051:C | C391S | missense_variant | 0.60 | 0 |
18:51067147:A | G423E | missense_variant | 0.60 | 0 |
18:51067147:C | G423A | missense_variant | 0.60 | 0 |
18:51067147:T | G423V | missense_variant | 0.60 | 0 |
18:51067149:A | D424N | missense_variant | 0.60 | 0 |
18:51067149:C | D424H | missense_variant | 0.60 | 0 |
18:51067149:T | D424Y | missense_variant | 0.60 | 0 |
18:51067051:A | C391Y | missense_variant | 0.60 | 0 |
18:51067047:C | E390Q | missense_variant | 0.60 | 0 |
18:51067047:A | E390K | missense_variant | 0.60 | 0 |
18:51067038:T | V387L | missense_variant | 0.60 | 0 |
18:51067038:C | V387L | missense_variant | 0.60 | 0 |
18:51067038:A | V387M | missense_variant | 0.60 | 0 |
18:51067030:T | G384V | missense_variant | 0.60 | 0 |
18:51067030:C | G384A | missense_variant | 0.60 | 0 |
18:51067030:A | G384D | missense_variant | 0.60 | 0 |
18:51067029:T | G384C | missense_variant | 0.60 | 0 |
18:51067029:C | G384R | missense_variant | 0.60 | 0 |
18:51067029:A | G384S | missense_variant | 0.60 | 0 |
18:51047276:G | T77R | missense_variant | 0.60 | 0 |
18:51047276:T | T77I | missense_variant | 0.60 | 0 |
18:51047276:A | T77K | missense_variant | 0.60 | 0 |
18:51065557:A | L364M | missense_variant | 0.60 | 0 |
18:51065557:G | L364V | missense_variant | 0.60 | 0 |
18:51067163:T | K428N | missense_variant | 0.60 | 0 |
18:51067163:C | K428N | missense_variant | 0.60 | 0 |
18:51076759:C | G477A | missense_variant | 0.59 | 0 |
18:51076759:A | G477E | missense_variant | 0.59 | 0 |
18:51076758:C | G477R | missense_variant | 0.59 | 0 |
18:51076758:A | G477R | missense_variant | 0.59 | 0 |
18:51076756:T | G476V | missense_variant | 0.59 | 0 |
18:51076756:C | G476A | missense_variant | 0.59 | 0 |
18:51076756:A | G476D | missense_variant | 0.59 | 0 |
18:51076755:T | G476C | missense_variant | 0.59 | 0 |
18:51076755:C | G476R | missense_variant | 0.59 | 0 |
18:51076755:A | G476S | missense_variant | 0.59 | 0 |
18:51076752:T | V475L | missense_variant | 0.59 | 0 |
18:51076752:C | V475L | missense_variant | 0.59 | 0 |
18:51076752:A | V475I | missense_variant | 0.59 | 0 |
18:51076747:T | G473V | missense_variant | 0.59 | 0 |
18:51076747:C | G473A | missense_variant | 0.59 | 0 |
18:51078304:A | C499Y | missense_variant | 0.59 | 0 |
18:51078304:C | C499S | missense_variant | 0.59 | 0 |
18:51078304:T | C499F | missense_variant | 0.59 | 0 |
18:51076747:A | G473E | missense_variant | 0.59 | 0 |
18:51076746:C | G473R | missense_variant | 0.59 | 0 |
18:51076746:A | G473R | missense_variant | 0.59 | 0 |
18:51076741:T | G471V | missense_variant | 0.59 | 0 |
18:51076741:C | G471A | missense_variant | 0.59 | 0 |
18:51078313:A | R502K | missense_variant | 0.59 | 0 |
18:51078313:C | R502T | missense_variant | 0.59 | 0 |
18:51078313:T | R502M | missense_variant | 0.59 | 0 |
18:51076741:A | G471D | missense_variant | 0.59 | 0 |
18:51076740:T | G471C | missense_variant | 0.59 | 0 |
18:51076740:C | G471R | missense_variant | 0.59 | 0 |
18:51078317:A | M503I | missense_variant | 0.59 | 0 |
18:51078317:C | M503I | missense_variant | 0.59 | 0 |
18:51078317:T | M503I | missense_variant | 0.59 | 0 |
18:51076740:A | G471S | missense_variant | 0.59 | 0 |
18:51076770:T | A481S | missense_variant | 0.59 | 0 |
18:51076729:C | G467A | missense_variant | 0.59 | 0 |
18:51076729:A | G467E | missense_variant | 0.59 | 0 |
18:51076728:C | G467R | missense_variant | 0.59 | 0 |
18:51076728:A | G467R | missense_variant | 0.59 | 0 |
18:51076725:T | A466S | missense_variant | 0.59 | 0 |
18:51076725:C | A466P | missense_variant | 0.59 | 0 |
18:51078324:A | V506M | missense_variant | 0.59 | 0 |
18:51078324:C | V506L | missense_variant | 0.59 | 0 |
18:51078324:T | V506L | missense_variant | 0.59 | 0 |
18:51076725:A | A466T | missense_variant | 0.59 | 0 |
18:51076722:T | V465L | missense_variant | 0.59 | 0 |
18:51076722:C | V465L | missense_variant | 0.59 | 0 |
18:51076722:A | V465M | missense_variant | 0.59 | 0 |
18:51076729:T | G467V | missense_variant | 0.59 | 0 |
18:51076770:C | A481P | missense_variant | 0.59 | 0 |
18:51076770:A | A481T | missense_variant | 0.59 | 0 |
18:51076764:T | A479S | missense_variant | 0.59 | 0 |
18:51076764:C | A479P | missense_variant | 0.59 | 0 |
18:51076764:A | A479T | missense_variant | 0.59 | 0 |
18:51076759:T | G477V | missense_variant | 0.59 | 0 |
18:51076707:C | A460P | missense_variant | 0.59 | 0 |
18:51076707:A | A460T | missense_variant | 0.59 | 0 |
18:51076701:T | A458S | missense_variant | 0.59 | 0 |
18:51076701:C | A458P | missense_variant | 0.59 | 0 |
18:51076701:A | A458T | missense_variant | 0.59 | 0 |
18:51078352:A | R515K | missense_variant | 0.59 | 0 |
18:51078352:C | R515T | missense_variant | 0.59 | 0 |
18:51078352:T | R515I | missense_variant | 0.59 | 0 |
18:51076698:T | A457S | missense_variant | 0.59 | 0 |
18:51078358:A | S517N | missense_variant | 0.59 | 0 |
18:51078358:C | S517T | missense_variant | 0.59 | 0 |
18:51078358:T | S517I | missense_variant | 0.59 | 0 |
18:51076698:C | A457P | missense_variant | 0.59 | 0 |
18:51076698:A | A457T | missense_variant | 0.59 | 0 |
18:51076695:T | A456S | missense_variant | 0.59 | 0 |
18:51076695:C | A456P | missense_variant | 0.59 | 0 |
18:51076695:A | A456T | missense_variant | 0.59 | 0 |
18:51076689:T | A454S | missense_variant | 0.59 | 0 |
18:51076689:C | A454P | missense_variant | 0.59 | 0 |
18:51076689:A | A454T | missense_variant | 0.59 | 0 |
18:51078376:A | C523Y | missense_variant | 0.59 | 0 |
18:51078376:C | C523S | missense_variant | 0.59 | 0 |
18:51078376:T | C523F | missense_variant | 0.59 | 0 |
18:51076683:T | A452S | missense_variant | 0.59 | 0 |
18:51076683:C | A452P | missense_variant | 0.59 | 0 |
18:51076683:A | A452T | missense_variant | 0.59 | 0 |
18:51076670:T | M447I | missense_variant | 0.59 | 0 |
18:51076670:C | M447I | missense_variant | 0.59 | 0 |
18:51078379:C | W524S | missense_variant | 0.59 | 0 |
18:51078379:T | W524L | missense_variant | 0.59 | 0 |
18:51076670:A | M447I | missense_variant | 0.59 | 0 |
18:51078380:C | W524C | missense_variant | 0.59 | 0 |
18:51078380:T | W524C | missense_variant | 0.59 | 0 |
18:51076663:T | R445L | missense_variant | 0.59 | 0 |
18:51078384:A | E526K | missense_variant | 0.59 | 0 |
18:51078384:C | E526Q | missense_variant | 0.59 | 0 |
18:51076663:C | R445P | missense_variant | 0.59 | 0 |
18:51076663:A | R445Q | missense_variant | 0.59 | 0 |
18:51076657:T | C443F | missense_variant | 0.59 | 0 |
18:51076657:C | C443S | missense_variant | 0.59 | 0 |
18:51076657:A | C443Y | missense_variant | 0.59 | 0 |
18:51076651:T | R441L | missense_variant | 0.59 | 0 |
18:51076651:C | R441P | missense_variant | 0.59 | 0 |
18:51076651:A | R441H | missense_variant | 0.59 | 0 |
18:51076644:T | D439Y | missense_variant | 0.59 | 0 |
18:51076644:C | D439H | missense_variant | 0.59 | 0 |
18:51076644:A | D439N | missense_variant | 0.59 | 0 |
18:51076638:T | V437F | missense_variant | 0.59 | 0 |
18:51076638:C | V437L | missense_variant | 0.59 | 0 |
18:51076638:A | V437I | missense_variant | 0.59 | 0 |
18:51078330:A | G508S | missense_variant | 0.59 | 0 |
18:51078330:C | G508R | missense_variant | 0.59 | 0 |
18:51078330:T | G508C | missense_variant | 0.59 | 0 |
18:51078331:A | G508D | missense_variant | 0.59 | 0 |
18:51078331:C | G508A | missense_variant | 0.59 | 0 |
18:51078331:T | G508V | missense_variant | 0.59 | 0 |
18:51076719:T | A464S | missense_variant | 0.59 | 0 |
18:51076719:C | A464P | missense_variant | 0.59 | 0 |
18:51076719:A | A464T | missense_variant | 0.59 | 0 |
18:51076713:T | A462S | missense_variant | 0.59 | 0 |
18:51078334:C | W509S | missense_variant | 0.59 | 0 |
18:51078334:T | W509L | missense_variant | 0.59 | 0 |
18:51076713:C | A462P | missense_variant | 0.59 | 0 |
18:51078335:C | W509C | missense_variant | 0.59 | 0 |
18:51078335:T | W509C | missense_variant | 0.59 | 0 |
18:51078336:A | G510R | missense_variant | 0.59 | 0 |
18:51078336:C | G510R | missense_variant | 0.59 | 0 |
18:51076713:A | A462T | missense_variant | 0.59 | 0 |
18:51078337:A | G510E | missense_variant | 0.59 | 0 |
18:51078337:C | G510A | missense_variant | 0.59 | 0 |
18:51078337:T | G510V | missense_variant | 0.59 | 0 |
18:51078342:A | D512N | missense_variant | 0.59 | 0 |
18:51078342:C | D512H | missense_variant | 0.59 | 0 |
18:51078342:T | D512Y | missense_variant | 0.59 | 0 |
18:51076707:T | A460S | missense_variant | 0.59 | 0 |
18:51078305:G | C499W | missense_variant | 0.58 | 0 |
18:51065559:T | L364F | missense_variant | 0.53 | 0 |
18:51065559:C | L364F | missense_variant | 0.53 | 0 |
18:51065598:C | E377D | missense_variant | 0.53 | 0 |
18:51065598:T | E377D | missense_variant | 0.53 | 0 |
18:51078329:T | K507N | missense_variant | 0.53 | 0 |
18:51078329:C | K507N | missense_variant | 0.53 | 0 |
18:51065428:A | E321K | missense_variant | 0.52 | 0 |
18:51065428:C | E321Q | missense_variant | 0.52 | 0 |
18:51047225:A | A60D | missense_variant | 0.52 | 0 |
18:51047162:T | A39V | missense_variant | 0.52 | 0 |
18:51047162:G | A39G | missense_variant | 0.52 | 0 |
18:51047162:A | A39E | missense_variant | 0.52 | 0 |
18:51047153:T | A36V | missense_variant | 0.52 | 0 |
18:51047264:T | T73I | missense_variant | 0.52 | 0 |
18:51047264:G | T73S | missense_variant | 0.52 | 0 |
18:51047264:A | T73N | missense_variant | 0.52 | 0 |
18:51047249:T | P68L | missense_variant | 0.52 | 0 |
18:51047249:G | P68R | missense_variant | 0.52 | 0 |
18:51047249:A | P68H | missense_variant | 0.52 | 0 |
18:51047248:T | P68S | missense_variant | 0.52 | 0 |
18:51047248:G | P68A | missense_variant | 0.52 | 0 |
18:51047248:A | P68T | missense_variant | 0.52 | 0 |
18:51047245:T | H67Y | missense_variant | 0.52 | 0 |
18:51047245:G | H67D | missense_variant | 0.52 | 0 |
18:51047245:A | H67N | missense_variant | 0.52 | 0 |
18:51047225:T | A60V | missense_variant | 0.52 | 0 |
18:51047225:G | A60G | missense_variant | 0.52 | 0 |
18:51047153:G | A36G | missense_variant | 0.52 | 0 |
18:51047153:A | A36E | missense_variant | 0.52 | 0 |
18:51047128:G | Q28E | missense_variant | 0.52 | 0 |
18:51047128:A | Q28K | missense_variant | 0.52 | 0 |
18:51047293:G | Q83E | missense_variant | 0.52 | 0 |
18:51047293:A | Q83K | missense_variant | 0.52 | 0 |
18:51047269:G | Q75E | missense_variant | 0.52 | 0 |
18:51047269:A | Q75K | missense_variant | 0.52 | 0 |
18:51078423:T | V539L | missense_variant | 0.51 | 0 |
18:51078400:T | R531L | missense_variant | 0.51 | 0 |
18:51078447:C | D547H | missense_variant | 0.51 | 0 |
18:51078437:T | M543I | missense_variant | 0.51 | 0 |
18:51078447:A | D547N | missense_variant | 0.51 | 0 |
18:51078447:T | D547Y | missense_variant | 0.51 | 0 |
18:51078423:C | V539L | missense_variant | 0.51 | 0 |
18:51078423:A | V539I | missense_variant | 0.51 | 0 |
18:51078437:A | M543I | missense_variant | 0.51 | 0 |
18:51078437:C | M543I | missense_variant | 0.51 | 0 |
18:51078420:C | E538Q | missense_variant | 0.51 | 0 |
18:51078420:A | E538K | missense_variant | 0.51 | 0 |
18:51078400:A | R531Q | missense_variant | 0.51 | 0 |
18:51078400:C | R531P | missense_variant | 0.51 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(CH) Cholangiocarcinoma | SOLID | 0.19 | 0.31 |