Top
Note: You're navigating the results of models obtained with IntOGen (2020). A new boostDM version is available here.
SF3B1 BRCA ×
Select a mutation to see further information
Mutation AA change Consequence type BoostDM score IntOGen frequency
2:197402110:C K700E missense_variant 0.99 33
2:197402635:G K666N missense_variant 0.97 2
2:197402760:A R625C missense_variant 0.98 1
2:197402637:C K666E missense_variant 0.96 1
2:197402757:C N626D missense_variant 0.94 1
2:197401492:G E802Q missense_variant 0.63 1
2:197402110:G K700Q missense_variant 0.99 0
2:197402109:C K700R missense_variant 0.99 0
2:197402109:G K700T missense_variant 0.99 0
2:197402109:A K700I missense_variant 0.99 0
2:197402107:A V701F missense_variant 0.99 0
2:197402107:G V701L missense_variant 0.99 0
2:197402107:T V701I missense_variant 0.99 0
2:197402110:A K700* stop_gained 0.98 0
2:197402760:C R625G missense_variant 0.98 0
2:197402760:T R625S missense_variant 0.98 0
2:197402638:C I665M missense_variant 0.97 0
2:197402111:A Q699H missense_variant 0.97 0
2:197402111:G Q699H missense_variant 0.97 0
2:197400934:A L833F missense_variant 0.97 0
2:197400934:G L833F missense_variant 0.97 0
2:197402635:A K666N missense_variant 0.97 0
2:197402759:G R625P missense_variant 0.97 0
2:197402759:T R625H missense_variant 0.97 0
2:197402759:A R625L missense_variant 0.97 0
2:197402647:C H662Q missense_variant 0.97 0
2:197402647:T H662Q missense_variant 0.97 0
2:197402108:G K700N missense_variant 0.97 0
2:197402108:A K700N missense_variant 0.97 0
2:197400728:C E902G missense_variant 0.97 0
2:197400728:G E902A missense_variant 0.97 0
2:197400728:A E902V missense_variant 0.97 0
2:197400729:T E902K missense_variant 0.97 0
2:197400729:G E902Q missense_variant 0.97 0
2:197402643:A G664C missense_variant 0.96 0
2:197402643:T G664S missense_variant 0.96 0
2:197402642:T G664D missense_variant 0.96 0
2:197402642:G G664A missense_variant 0.96 0
2:197402642:A G664V missense_variant 0.96 0
2:197402643:G G664R missense_variant 0.96 0
2:197402645:C T663S missense_variant 0.96 0
2:197402645:A T663I missense_variant 0.96 0
2:197402645:T T663N missense_variant 0.96 0
2:197402639:C I665S missense_variant 0.96 0
2:197402639:T I665N missense_variant 0.96 0
2:197402639:G I665T missense_variant 0.96 0
2:197400730:G Q901H missense_variant 0.96 0
2:197400730:A Q901H missense_variant 0.96 0
2:197402640:A I665F missense_variant 0.96 0
2:197402640:C I665V missense_variant 0.96 0
2:197402640:G I665L missense_variant 0.96 0
2:197402646:C T663A missense_variant 0.96 0
2:197402636:A K666M missense_variant 0.96 0
2:197402636:G K666T missense_variant 0.96 0
2:197402636:C K666R missense_variant 0.96 0
2:197402637:G K666Q missense_variant 0.96 0
2:197402646:G T663P missense_variant 0.96 0
2:197402646:A T663S missense_variant 0.96 0
2:197400733:T F900L missense_variant 0.95 0
2:197400727:A E902D missense_variant 0.95 0
2:197400727:G E902D missense_variant 0.95 0
2:197400733:C F900L missense_variant 0.95 0
2:197400738:G A899P missense_variant 0.94 0
2:197400738:T A899T missense_variant 0.94 0
2:197400738:A A899S missense_variant 0.94 0
2:197402757:G N626H missense_variant 0.94 0
2:197402757:A N626Y missense_variant 0.94 0
2:197400737:T A899D missense_variant 0.93 0
2:197400737:C A899G missense_variant 0.93 0
2:197400737:A A899V missense_variant 0.93 0
2:197400732:T Q901K missense_variant 0.93 0
2:197400732:C Q901E missense_variant 0.93 0
2:197400726:T Q903K missense_variant 0.93 0
2:197400726:C Q903E missense_variant 0.93 0
2:197400743:C L897R missense_variant 0.93 0
2:197400734:G F900S missense_variant 0.93 0
2:197400734:T F900Y missense_variant 0.93 0
2:197400743:T L897H missense_variant 0.93 0
2:197400741:T Y898N missense_variant 0.93 0
2:197400741:G Y898H missense_variant 0.93 0
2:197400743:G L897P missense_variant 0.93 0
2:197400735:C F900V missense_variant 0.93 0
2:197400741:C Y898D missense_variant 0.93 0
2:197400735:G F900L missense_variant 0.93 0
2:197400735:T F900I missense_variant 0.93 0
2:197400734:C F900C missense_variant 0.93 0
2:197401861:G G751R missense_variant 0.93 0
2:197401861:T G751R missense_variant 0.93 0
2:197401861:A G751W missense_variant 0.93 0
2:197400731:G Q901P missense_variant 0.92 0
2:197400731:C Q901R missense_variant 0.92 0
2:197400731:A Q901L missense_variant 0.92 0
2:197400725:G Q903P missense_variant 0.92 0
2:197400725:C Q903R missense_variant 0.92 0
2:197400725:A Q903L missense_variant 0.92 0
2:197400740:A Y898F missense_variant 0.92 0
2:197400740:C Y898C missense_variant 0.92 0
2:197400740:G Y898S missense_variant 0.92 0
2:197400934:C L833L splice_region_variant 0.91 0
2:197402637:A K666* stop_gained 0.89 0
2:197400729:A E902* stop_gained 0.88 0
2:197400732:A Q901* stop_gained 0.84 0
2:197400726:A Q903* stop_gained 0.84 0
2:197400739:C Y898* stop_gained 0.82 0
2:197400739:T Y898* stop_gained 0.82 0
2:197402974:T R594Q missense_variant 0.74 0
2:197402974:G R594P missense_variant 0.74 0
2:197402974:A R594L missense_variant 0.74 0
2:197401512:G C795S missense_variant 0.63 0
2:197401439:A W819C missense_variant 0.63 0
2:197401431:T R822K missense_variant 0.63 0
2:197401431:G R822T missense_variant 0.63 0
2:197401431:A R822M missense_variant 0.63 0
2:197401427:T M823I missense_variant 0.63 0
2:197401427:G M823I missense_variant 0.63 0
2:197401427:A M823I missense_variant 0.63 0
2:197401426:T A824T missense_variant 0.63 0
2:197401426:G A824P missense_variant 0.63 0
2:197401426:A A824S missense_variant 0.63 0
2:197401420:T D826N missense_variant 0.63 0
2:197401420:G D826H missense_variant 0.63 0
2:197401420:A D826Y missense_variant 0.63 0
2:197401416:T R827K missense_variant 0.63 0
2:197401416:G R827T missense_variant 0.63 0
2:197401416:A R827I missense_variant 0.63 0
2:197401413:T R828K missense_variant 0.63 0
2:197401413:G R828T missense_variant 0.63 0
2:197401413:A R828I missense_variant 0.63 0
2:197401404:T R831Q missense_variant 0.63 0
2:197401404:G R831P missense_variant 0.63 0
2:197401404:A R831L missense_variant 0.63 0
2:197401471:G E809Q missense_variant 0.63 0
2:197401471:T E809K missense_variant 0.63 0
2:197401492:T E802K missense_variant 0.63 0
2:197401495:A V801L missense_variant 0.63 0
2:197401495:G V801L missense_variant 0.63 0
2:197401495:T V801I missense_variant 0.63 0
2:197401497:A G800V missense_variant 0.63 0
2:197401497:G G800A missense_variant 0.63 0
2:197401497:T G800D missense_variant 0.63 0
2:197401498:A G800C missense_variant 0.63 0
2:197401498:G G800R missense_variant 0.63 0
2:197401498:T G800S missense_variant 0.63 0
2:197401501:A D799Y missense_variant 0.63 0
2:197401501:G D799H missense_variant 0.63 0
2:197401501:T D799N missense_variant 0.63 0
2:197401507:A G797W missense_variant 0.63 0
2:197401507:G G797R missense_variant 0.63 0
2:197401507:T G797R missense_variant 0.63 0
2:197401509:A C796F missense_variant 0.63 0
2:197401509:G C796S missense_variant 0.63 0
2:197401509:T C796Y missense_variant 0.63 0
2:197401512:A C795F missense_variant 0.63 0
2:197401439:G W819C missense_variant 0.63 0
2:197401512:T C795Y missense_variant 0.63 0
2:197401522:A V792L missense_variant 0.63 0
2:197401522:G V792L missense_variant 0.63 0
2:197401522:T V792I missense_variant 0.63 0
2:197401525:A V791L missense_variant 0.63 0
2:197401525:G V791L missense_variant 0.63 0
2:197401525:T V791M missense_variant 0.63 0
2:197401440:G W819S missense_variant 0.63 0
2:197401440:A W819L missense_variant 0.63 0
2:197408111:G M376L missense_variant 0.63 0
2:197408111:C M376V missense_variant 0.63 0
2:197408111:A M376L missense_variant 0.63 0
2:197408108:G S377R missense_variant 0.63 0
2:197408108:C S377G missense_variant 0.63 0
2:197408108:A S377C missense_variant 0.63 0
2:197416812:A R199C missense_variant 0.61 0
2:197416812:C R199G missense_variant 0.61 0
2:197416812:T R199S missense_variant 0.61 0
2:197416899:C Q170E missense_variant 0.61 0
2:197416899:T Q170K missense_variant 0.61 0
2:197396110:G G1162A missense_variant 0.61 0
2:197396110:A G1162V missense_variant 0.61 0
2:197392317:A D1301Y missense_variant 0.61 0
2:197392323:T E1299K missense_variant 0.61 0
2:197392328:A R1297L missense_variant 0.61 0
2:197392328:G R1297P missense_variant 0.61 0
2:197392328:T R1297H missense_variant 0.61 0
2:197392317:G D1301H missense_variant 0.61 0
2:197392317:T D1301N missense_variant 0.61 0
2:197392323:G E1299Q missense_variant 0.61 0
2:197396129:T E1156K missense_variant 0.61 0
2:197396129:G E1156Q missense_variant 0.61 0
2:197396120:T G1159S missense_variant 0.61 0
2:197396120:G G1159R missense_variant 0.61 0
2:197396120:A G1159C missense_variant 0.61 0
2:197396119:T G1159D missense_variant 0.61 0
2:197396119:G G1159A missense_variant 0.61 0
2:197396119:A G1159V missense_variant 0.61 0
2:197396117:T E1160K missense_variant 0.61 0
2:197396117:G E1160Q missense_variant 0.61 0
2:197396112:T M1161I missense_variant 0.61 0
2:197396112:G M1161I missense_variant 0.61 0
2:197396112:A M1161I missense_variant 0.61 0
2:197396111:T G1162R missense_variant 0.61 0
2:197396111:G G1162R missense_variant 0.61 0
2:197396110:T G1162E missense_variant 0.61 0
2:197408489:C K333E missense_variant 0.59 0
2:197408489:G K333Q missense_variant 0.59 0
2:197402118:G E697A missense_variant 0.59 0
2:197402118:C E697G missense_variant 0.59 0
2:197402118:A E697V missense_variant 0.59 0
2:197402121:G D696A missense_variant 0.59 0
2:197402121:A D696V missense_variant 0.59 0
2:197402115:G Q698P missense_variant 0.59 0
2:197402115:C Q698R missense_variant 0.59 0
2:197402115:A Q698L missense_variant 0.59 0
2:197402112:G Q699P missense_variant 0.59 0
2:197402112:C Q699R missense_variant 0.59 0
2:197402112:A Q699L missense_variant 0.59 0
2:197402121:C D696G missense_variant 0.59 0
2:197416836:C Q191E missense_variant 0.59 0
2:197416836:T Q191K missense_variant 0.59 0
2:197408581:G D302A missense_variant 0.59 0
2:197408492:G S332R missense_variant 0.59 0
2:197408492:C S332G missense_variant 0.59 0
2:197408569:G H306P missense_variant 0.59 0
2:197408579:A T303S missense_variant 0.59 0
2:197408579:C T303A missense_variant 0.59 0
2:197408579:G T303P missense_variant 0.59 0
2:197408581:A D302V missense_variant 0.59 0
2:197408581:C D302G missense_variant 0.59 0
2:197408569:C H306R missense_variant 0.59 0
2:197408492:A S332C missense_variant 0.59 0
2:197408569:A H306L missense_variant 0.59 0
2:197392386:G D1278H missense_variant 0.59 0
2:197398093:T R1053K missense_variant 0.59 0
2:197398093:G R1053T missense_variant 0.59 0
2:197398093:A R1053I missense_variant 0.59 0
2:197398091:T E1054K missense_variant 0.59 0
2:197398091:G E1054Q missense_variant 0.59 0
2:197398087:G W1055S missense_variant 0.59 0
2:197398087:A W1055L missense_variant 0.59 0
2:197398086:G W1055C missense_variant 0.59 0
2:197398086:A W1055C missense_variant 0.59 0
2:197398083:T M1056I missense_variant 0.59 0
2:197398083:G M1056I missense_variant 0.59 0
2:197398083:A M1056I missense_variant 0.59 0
2:197398081:T R1057K missense_variant 0.59 0
2:197398081:G R1057T missense_variant 0.59 0
2:197398081:A R1057M missense_variant 0.59 0
2:197392395:G G1275R missense_variant 0.59 0
2:197392395:A G1275C missense_variant 0.59 0
2:197392394:T G1275D missense_variant 0.59 0
2:197392394:G G1275A missense_variant 0.59 0
2:197392394:A G1275V missense_variant 0.59 0
2:197392386:T D1278N missense_variant 0.59 0
2:197392386:A D1278Y missense_variant 0.59 0
2:197392383:T A1279T missense_variant 0.59 0
2:197392383:G A1279P missense_variant 0.59 0
2:197392383:A A1279S missense_variant 0.59 0
2:197392350:T D1290N missense_variant 0.59 0
2:197392350:G D1290H missense_variant 0.59 0
2:197392350:A D1290Y missense_variant 0.59 0
2:197392347:T D1291N missense_variant 0.59 0
2:197392347:G D1291H missense_variant 0.59 0
2:197392347:A D1291Y missense_variant 0.59 0
2:197392461:T G1253S missense_variant 0.59 0
2:197392461:G G1253R missense_variant 0.59 0
2:197392461:A G1253C missense_variant 0.59 0
2:197392460:T G1253D missense_variant 0.59 0
2:197392460:G G1253A missense_variant 0.59 0
2:197392460:A G1253V missense_variant 0.59 0
2:197392446:T A1258T missense_variant 0.59 0
2:197392446:G A1258P missense_variant 0.59 0
2:197392446:A A1258S missense_variant 0.59 0
2:197392442:T R1259Q missense_variant 0.59 0
2:197392442:G R1259P missense_variant 0.59 0
2:197392442:A R1259L missense_variant 0.59 0
2:197392437:T V1261I missense_variant 0.59 0
2:197392437:G V1261L missense_variant 0.59 0
2:197392437:A V1261F missense_variant 0.59 0
2:197392433:T R1262K missense_variant 0.59 0
2:197392433:G R1262T missense_variant 0.59 0
2:197392433:A R1262I missense_variant 0.59 0
2:197392431:T D1263N missense_variant 0.59 0
2:197392431:G D1263H missense_variant 0.59 0
2:197392431:A D1263Y missense_variant 0.59 0
2:197392428:T V1264I missense_variant 0.59 0
2:197392428:G V1264L missense_variant 0.59 0
2:197392428:A V1264L missense_variant 0.59 0
2:197392421:G W1266S missense_variant 0.59 0
2:197392421:A W1266L missense_variant 0.59 0
2:197392420:G W1266C missense_variant 0.59 0
2:197392420:A W1266C missense_variant 0.59 0
2:197392395:T G1275S missense_variant 0.59 0
2:197398097:A A1052S missense_variant 0.59 0
2:197398097:G A1052P missense_variant 0.59 0
2:197398097:T A1052T missense_variant 0.59 0
2:197398103:A V1050L missense_variant 0.59 0
2:197398103:G V1050L missense_variant 0.59 0
2:197398103:T V1050I missense_variant 0.59 0
2:197398109:G E1048Q missense_variant 0.59 0
2:197398109:T E1048K missense_variant 0.59 0
2:197398112:G A1047P missense_variant 0.59 0
2:197398112:T A1047T missense_variant 0.59 0
2:197398114:A G1046V missense_variant 0.59 0
2:197398115:T G1046R missense_variant 0.59 0
2:197398114:G G1046A missense_variant 0.59 0
2:197398114:T G1046E missense_variant 0.59 0
2:197398115:G G1046R missense_variant 0.59 0
2:197398112:A A1047S missense_variant 0.59 0
2:197408524:G D321A missense_variant 0.58 0
2:197408458:A A343V missense_variant 0.58 0
2:197408458:C A343G missense_variant 0.58 0
2:197408458:T A343D missense_variant 0.58 0
2:197408504:A T328S missense_variant 0.58 0
2:197408504:C T328A missense_variant 0.58 0
2:197408504:G T328P missense_variant 0.58 0
2:197408510:A T326S missense_variant 0.58 0
2:197408510:C T326A missense_variant 0.58 0
2:197408510:G T326P missense_variant 0.58 0
2:197408524:A D321V missense_variant 0.58 0
2:197408524:C D321G missense_variant 0.58 0
2:197408536:A D317V missense_variant 0.58 0
2:197408536:C D317G missense_variant 0.58 0
2:197408536:G D317A missense_variant 0.58 0
2:197408540:A T316S missense_variant 0.58 0
2:197408540:C T316A missense_variant 0.58 0
2:197408540:G T316P missense_variant 0.58 0
2:197408549:A T313S missense_variant 0.58 0
2:197408549:C T313A missense_variant 0.58 0
2:197408549:G T313P missense_variant 0.58 0
2:197408551:A E312V missense_variant 0.58 0
2:197408551:C E312G missense_variant 0.58 0
2:197408551:G E312A missense_variant 0.58 0
2:197408564:A S308C missense_variant 0.58 0
2:197408564:C S308G missense_variant 0.58 0
2:197408564:G S308R missense_variant 0.58 0
2:197409878:A A266S missense_variant 0.58 0
2:197409878:G A266P missense_variant 0.58 0
2:197409878:T A266T missense_variant 0.58 0
2:197409883:A G264V missense_variant 0.58 0
2:197409883:G G264A missense_variant 0.58 0
2:197409883:T G264E missense_variant 0.58 0
2:197409884:G G264R missense_variant 0.58 0
2:197409884:T G264R missense_variant 0.58 0
2:197409898:A S259I missense_variant 0.58 0
2:197409898:G S259T missense_variant 0.58 0
2:197409898:T S259N missense_variant 0.58 0
2:197409911:A D255Y missense_variant 0.58 0
2:197409911:G D255H missense_variant 0.58 0
2:197409911:T D255N missense_variant 0.58 0
2:197409912:A W254C missense_variant 0.58 0
2:197409912:G W254C missense_variant 0.58 0
2:197409913:A W254L missense_variant 0.58 0
2:197409913:G W254S missense_variant 0.58 0
2:197409925:A G250V missense_variant 0.58 0
2:197409925:G G250A missense_variant 0.58 0
2:197409925:T G250D missense_variant 0.58 0
2:197409935:A A247S missense_variant 0.58 0
2:197409935:G A247P missense_variant 0.58 0
2:197409935:T A247T missense_variant 0.58 0
2:197409937:A G246V missense_variant 0.58 0
2:197409937:G G246A missense_variant 0.58 0
2:197409937:T G246E missense_variant 0.58 0
2:197409938:G G246R missense_variant 0.58 0
2:197409938:T G246R missense_variant 0.58 0
2:197409947:G E243Q missense_variant 0.58 0
2:197409947:T E243K missense_variant 0.58 0
2:197409952:A G241V missense_variant 0.58 0
2:197409952:G G241A missense_variant 0.58 0
2:197409952:T G241E missense_variant 0.58 0
2:197409953:G G241R missense_variant 0.58 0
2:197409953:T G241R missense_variant 0.58 0
2:197409961:A R238L missense_variant 0.58 0
2:197409961:G R238P missense_variant 0.58 0
2:197409961:T R238H missense_variant 0.58 0
2:197409964:A G237V missense_variant 0.58 0
2:197409964:G G237A missense_variant 0.58 0
2:197409964:T G237D missense_variant 0.58 0
2:197409965:A G237C missense_variant 0.58 0
2:197409965:G G237R missense_variant 0.58 0
2:197409965:T G237S missense_variant 0.58 0
2:197409974:G E234Q missense_variant 0.58 0
2:197409974:T E234K missense_variant 0.58 0
2:197409977:A D233Y missense_variant 0.58 0
2:197409977:G D233H missense_variant 0.58 0
2:197409977:T D233N missense_variant 0.58 0
2:197409978:A W232C missense_variant 0.58 0
2:197409978:G W232C missense_variant 0.58 0
2:197409979:A W232L missense_variant 0.58 0
2:197409979:G W232S missense_variant 0.58 0
2:197409982:A R231I missense_variant 0.58 0
2:197409982:G R231T missense_variant 0.58 0
2:197409982:T R231K missense_variant 0.58 0
2:197410001:A G225W missense_variant 0.58 0
2:197410001:G G225R missense_variant 0.58 0
2:197410001:T G225R missense_variant 0.58 0
2:197416832:A P192L missense_variant 0.58 0
2:197416832:T P192H missense_variant 0.58 0
2:197416832:C P192R missense_variant 0.58 0
2:197408107:A S377I missense_variant 0.56 0
2:197408109:A M376I missense_variant 0.56 0
2:197408109:G M376I missense_variant 0.56 0
2:197408107:T S377N missense_variant 0.56 0
2:197408107:G S377T missense_variant 0.56 0
2:197408109:T M376I missense_variant 0.56 0
2:197400265:G K963T missense_variant 0.56 0
2:197400266:C K963E missense_variant 0.56 0
2:197400266:G K963Q missense_variant 0.56 0
2:197400265:C K963R missense_variant 0.56 0
2:197400265:A K963M missense_variant 0.56 0
2:197416743:G E222Q missense_variant 0.56 0
2:197416872:G G179R missense_variant 0.56 0
2:197416871:T G179E missense_variant 0.56 0
2:197416871:G G179A missense_variant 0.56 0
2:197416871:A G179V missense_variant 0.56 0
2:197416869:T E180K missense_variant 0.56 0
2:197416869:G E180Q missense_variant 0.56 0
2:197416860:T V183I missense_variant 0.56 0
2:197416860:G V183L missense_variant 0.56 0
2:197416901:G R169T missense_variant 0.56 0
2:197416887:G E174Q missense_variant 0.56 0
2:197416901:T R169K missense_variant 0.56 0
2:197416908:G E167Q missense_variant 0.56 0
2:197416908:T E167K missense_variant 0.56 0
2:197416881:T A176T missense_variant 0.56 0
2:197416881:G A176P missense_variant 0.56 0
2:197416881:A A176S missense_variant 0.56 0
2:197416890:G A173P missense_variant 0.56 0
2:197416890:T A173T missense_variant 0.56 0
2:197416887:T E174K missense_variant 0.56 0
2:197416890:A A173S missense_variant 0.56 0
2:197416901:A R169M missense_variant 0.56 0
2:197416872:T G179R missense_variant 0.56 0
2:197416860:A V183F missense_variant 0.56 0
2:197416857:T V184I missense_variant 0.56 0
2:197416857:G V184L missense_variant 0.56 0
2:197416857:A V184F missense_variant 0.56 0
2:197416851:T G186R missense_variant 0.56 0
2:197416851:G G186R missense_variant 0.56 0
2:197416850:T G186E missense_variant 0.56 0
2:197416850:G G186A missense_variant 0.56 0
2:197416850:A G186V missense_variant 0.56 0
2:197416820:T R196Q missense_variant 0.56 0
2:197416820:G R196P missense_variant 0.56 0
2:197416820:A R196L missense_variant 0.56 0
2:197416814:T R198Q missense_variant 0.56 0
2:197416814:G R198P missense_variant 0.56 0
2:197416814:A R198L missense_variant 0.56 0
2:197416811:T R199H missense_variant 0.56 0
2:197416811:G R199P missense_variant 0.56 0
2:197416811:A R199L missense_variant 0.56 0
2:197416808:G W200S missense_variant 0.56 0
2:197416808:A W200L missense_variant 0.56 0
2:197416807:G W200C missense_variant 0.56 0
2:197416807:A W200C missense_variant 0.56 0
2:197416806:T D201N missense_variant 0.56 0
2:197416806:G D201H missense_variant 0.56 0
2:197416806:A D201Y missense_variant 0.56 0
2:197416797:T A204T missense_variant 0.56 0
2:197416797:G A204P missense_variant 0.56 0
2:197416794:T D205N missense_variant 0.56 0
2:197416797:A A204S missense_variant 0.56 0
2:197416794:G D205H missense_variant 0.56 0
2:197416794:A D205Y missense_variant 0.56 0
2:197416754:G W218S missense_variant 0.56 0
2:197416754:A W218L missense_variant 0.56 0
2:197416753:G W218C missense_variant 0.56 0
2:197416753:A W218C missense_variant 0.56 0
2:197416752:T D219N missense_variant 0.56 0
2:197416752:G D219H missense_variant 0.56 0
2:197416752:A D219Y missense_variant 0.56 0
2:197416746:T A221T missense_variant 0.56 0
2:197416746:G A221P missense_variant 0.56 0
2:197416746:A A221S missense_variant 0.56 0
2:197416743:T E222K missense_variant 0.56 0
2:197402022:C K729R missense_variant 0.56 0
2:197402067:A E714V missense_variant 0.56 0
2:197402059:G T717P missense_variant 0.56 0
2:197402059:C T717A missense_variant 0.56 0
2:197402059:A T717S missense_variant 0.56 0
2:197402052:G Y719S missense_variant 0.56 0
2:197402052:C Y719C missense_variant 0.56 0
2:197402052:A Y719F missense_variant 0.56 0
2:197402022:A K729M missense_variant 0.56 0
2:197402022:G K729T missense_variant 0.56 0
2:197402023:C K729E missense_variant 0.56 0
2:197402023:G K729Q missense_variant 0.56 0
2:197402034:A D725V missense_variant 0.56 0
2:197402034:C D725G missense_variant 0.56 0
2:197402034:G D725A missense_variant 0.56 0
2:197402043:A E722V missense_variant 0.56 0
2:197402043:C E722G missense_variant 0.56 0
2:197402043:G E722A missense_variant 0.56 0
2:197402047:A I721F missense_variant 0.56 0
2:197402047:C I721V missense_variant 0.56 0
2:197402047:G I721L missense_variant 0.56 0
2:197402101:G T703P missense_variant 0.56 0
2:197402101:C T703A missense_variant 0.56 0
2:197402101:A T703S missense_variant 0.56 0
2:197402098:G I704L missense_variant 0.56 0
2:197402098:C I704V missense_variant 0.56 0
2:197402098:A I704F missense_variant 0.56 0
2:197402095:G S705R missense_variant 0.56 0
2:197402095:C S705G missense_variant 0.56 0
2:197402095:A S705C missense_variant 0.56 0
2:197402067:G E714A missense_variant 0.56 0
2:197402067:C E714G missense_variant 0.56 0
2:197402011:C K733E missense_variant 0.56 0
2:197402010:A K733M missense_variant 0.56 0
2:197402011:G K733Q missense_variant 0.56 0
2:197402010:C K733R missense_variant 0.56 0
2:197402010:G K733T missense_variant 0.56 0
2:197400269:A M962L missense_variant 0.55 0
2:197400253:A E967V missense_variant 0.55 0
2:197400253:C E967G missense_variant 0.55 0
2:197400256:G Q966P missense_variant 0.55 0
2:197400263:A T964S missense_variant 0.55 0
2:197400263:C T964A missense_variant 0.55 0
2:197400253:G E967A missense_variant 0.55 0
2:197400256:A Q966L missense_variant 0.55 0
2:197400269:C M962V missense_variant 0.55 0
2:197400295:G D953A missense_variant 0.55 0
2:197400290:A I955F missense_variant 0.55 0
2:197400290:C I955V missense_variant 0.55 0
2:197400295:C D953G missense_variant 0.55 0
2:197400295:A D953V missense_variant 0.55 0
2:197400281:G T958P missense_variant 0.55 0
2:197400290:G I955L missense_variant 0.55 0
2:197400263:G T964P missense_variant 0.55 0
2:197400256:C Q966R missense_variant 0.55 0
2:197400269:G M962L missense_variant 0.55 0
2:197400281:A T958S missense_variant 0.55 0
2:197400281:C T958A missense_variant 0.55 0
2:197408446:G G347A missense_variant 0.55 0
2:197408446:A G347V missense_variant 0.55 0
2:197408396:A A364S missense_variant 0.55 0
2:197408396:G A364P missense_variant 0.55 0
2:197408396:T A364T missense_variant 0.55 0
2:197408419:G G356A missense_variant 0.55 0
2:197408405:T G361S missense_variant 0.55 0
2:197408459:T A343T missense_variant 0.55 0
2:197408404:A G361V missense_variant 0.55 0
2:197408404:G G361A missense_variant 0.55 0
2:197408404:T G361D missense_variant 0.55 0
2:197408405:A G361C missense_variant 0.55 0
2:197408405:G G361R missense_variant 0.55 0
2:197408448:T M346I missense_variant 0.55 0
2:197408459:G A343P missense_variant 0.55 0
2:197408459:A A343S missense_variant 0.55 0
2:197408455:T S344N missense_variant 0.55 0
2:197408455:G S344T missense_variant 0.55 0
2:197408455:A S344I missense_variant 0.55 0
2:197408385:A M367I missense_variant 0.55 0
2:197408385:G M367I missense_variant 0.55 0
2:197408385:T M367I missense_variant 0.55 0
2:197408391:A M365I missense_variant 0.55 0
2:197408391:G M365I missense_variant 0.55 0
2:197408391:T M365I missense_variant 0.55 0
2:197408448:G M346I missense_variant 0.55 0
2:197408448:A M346I missense_variant 0.55 0
2:197408447:T G347S missense_variant 0.55 0
2:197408447:G G347R missense_variant 0.55 0
2:197408447:A G347C missense_variant 0.55 0
2:197408446:T G347D missense_variant 0.55 0
2:197408420:G G356R missense_variant 0.55 0
2:197408419:T G356E missense_variant 0.55 0
2:197408419:A G356V missense_variant 0.55 0
2:197408420:T G356R missense_variant 0.55 0
2:197408369:T G373S missense_variant 0.55 0
2:197408369:G G373R missense_variant 0.55 0
2:197408369:A G373C missense_variant 0.55 0
2:197421058:T L91I missense_variant 0.55 0
2:197408471:A D339Y missense_variant 0.55 0
2:197408471:G D339H missense_variant 0.55 0
2:197408471:T D339N missense_variant 0.55 0
2:197408472:A W338C missense_variant 0.55 0
2:197408472:G W338C missense_variant 0.55 0
2:197408473:A W338L missense_variant 0.55 0
2:197408473:G W338S missense_variant 0.55 0
2:197408476:A R337L missense_variant 0.55 0
2:197408476:G R337P missense_variant 0.55 0
2:197408476:T R337Q missense_variant 0.55 0
2:197408485:A R334I missense_variant 0.55 0
2:197408485:G R334T missense_variant 0.55 0
2:197408485:T R334K missense_variant 0.55 0
2:197421058:C L91V missense_variant 0.55 0
2:197421058:A L91F missense_variant 0.55 0
2:197408573:A G305W missense_variant 0.55 0
2:197408573:T G305R missense_variant 0.55 0
2:197408572:G G305A missense_variant 0.55 0
2:197408572:A G305V missense_variant 0.55 0
2:197401998:C Q737R missense_variant 0.55 0
2:197401998:A Q737L missense_variant 0.55 0
2:197402005:G I735L missense_variant 0.55 0
2:197402005:C I735V missense_variant 0.55 0
2:197408497:A G330V missense_variant 0.55 0
2:197408495:T A331T missense_variant 0.55 0
2:197408495:G A331P missense_variant 0.55 0
2:197408495:A A331S missense_variant 0.55 0
2:197401995:A H738L missense_variant 0.55 0
2:197401987:G K741Q missense_variant 0.55 0
2:197401986:A K741M missense_variant 0.55 0
2:197401987:C K741E missense_variant 0.55 0
2:197408491:T S332N missense_variant 0.55 0
2:197408491:G S332T missense_variant 0.55 0
2:197408491:A S332I missense_variant 0.55 0
2:197401986:G K741T missense_variant 0.55 0
2:197401986:C K741R missense_variant 0.55 0
2:197408572:T G305E missense_variant 0.55 0
2:197408573:G G305R missense_variant 0.55 0
2:197401995:G H738P missense_variant 0.55 0
2:197408567:T G307R missense_variant 0.55 0
2:197408567:G G307R missense_variant 0.55 0
2:197408566:T G307E missense_variant 0.55 0
2:197408566:G G307A missense_variant 0.55 0
2:197402005:A I735F missense_variant 0.55 0
2:197401998:G Q737P missense_variant 0.55 0
2:197408566:A G307V missense_variant 0.55 0
2:197401995:C H738R missense_variant 0.55 0
2:197408498:T G330R missense_variant 0.55 0
2:197408498:G G330R missense_variant 0.55 0
2:197408497:T G330E missense_variant 0.55 0
2:197408497:G G330A missense_variant 0.55 0
2:197416784:A P208L missense_variant 0.55 0
2:197416784:C P208R missense_variant 0.55 0
2:197416784:T P208H missense_variant 0.55 0
2:197408383:C A368G missense_variant 0.53 0
2:197408383:A A368V missense_variant 0.53 0
2:197408372:A P372S missense_variant 0.53 0
2:197408372:C P372A missense_variant 0.53 0
2:197408372:T P372T missense_variant 0.53 0
2:197408383:T A368D missense_variant 0.53 0
2:197409817:A S286F missense_variant 0.53 0
2:197409817:C S286C missense_variant 0.53 0
2:197409817:T S286Y missense_variant 0.53 0
2:197408488:G K333T missense_variant 0.52 0
2:197408488:A K333I missense_variant 0.52 0
2:197408488:C K333R missense_variant 0.52 0
2:197408381:C T369A missense_variant 0.52 0
2:197408375:A T371S missense_variant 0.52 0
2:197408375:C T371A missense_variant 0.52 0
2:197408375:G T371P missense_variant 0.52 0
2:197408381:A T369S missense_variant 0.52 0
2:197408381:G T369P missense_variant 0.52 0
2:197408393:A M365L missense_variant 0.52 0
2:197408393:C M365V missense_variant 0.52 0
2:197408393:G M365L missense_variant 0.52 0
2:197408402:A T362S missense_variant 0.52 0
2:197408402:C T362A missense_variant 0.52 0
2:197408402:G T362P missense_variant 0.52 0
2:197408414:A T358S missense_variant 0.52 0
2:197408414:C T358A missense_variant 0.52 0
2:197408414:G T358P missense_variant 0.52 0
2:197408417:C K357E missense_variant 0.52 0
2:197408417:G K357Q missense_variant 0.52 0
2:197408426:A T354S missense_variant 0.52 0
2:197408426:C T354A missense_variant 0.52 0
2:197408426:G T354P missense_variant 0.52 0
2:197408438:A T350S missense_variant 0.52 0
2:197408438:C T350A missense_variant 0.52 0
2:197408438:G T350P missense_variant 0.52 0
2:197408450:A M346L missense_variant 0.52 0
2:197408450:C M346V missense_variant 0.52 0
2:197408450:G M346L missense_variant 0.52 0
2:197408452:A Q345L missense_variant 0.52 0
2:197408452:C Q345R missense_variant 0.52 0
2:197408452:G Q345P missense_variant 0.52 0
2:197408456:A S344C missense_variant 0.52 0
2:197408456:C S344G missense_variant 0.52 0
2:197408456:G S344R missense_variant 0.52 0
2:197408465:A T341S missense_variant 0.52 0
2:197408465:C T341A missense_variant 0.52 0
2:197408465:G T341P missense_variant 0.52 0
2:197408470:A D339V missense_variant 0.52 0
2:197408470:C D339G missense_variant 0.52 0
2:197408470:G D339A missense_variant 0.52 0
2:197408482:A K335I missense_variant 0.52 0
2:197408482:C K335R missense_variant 0.52 0
2:197408482:G K335T missense_variant 0.52 0
2:197408483:C K335E missense_variant 0.52 0
2:197408483:G K335Q missense_variant 0.52 0
2:197396060:T D1179N missense_variant 0.50 0
2:197396075:G E1174Q missense_variant 0.50 0
2:197396075:T E1174K missense_variant 0.50 0
2:197396061:A M1178I missense_variant 0.50 0
2:197396061:G M1178I missense_variant 0.50 0
2:197396061:T M1178I missense_variant 0.50 0
2:197396090:A V1169L missense_variant 0.50 0
2:197396090:G V1169L missense_variant 0.50 0
2:197396090:T V1169I missense_variant 0.50 0
2:197396093:A A1168S missense_variant 0.50 0
2:197396093:G A1168P missense_variant 0.50 0
2:197396093:T A1168T missense_variant 0.50 0
2:197396060:A D1179Y missense_variant 0.50 0
2:197396060:G D1179H missense_variant 0.50 0
2:197396105:T D1164N missense_variant 0.50 0
2:197396105:G D1164H missense_variant 0.50 0
2:197396105:A D1164Y missense_variant 0.50 0
2:197396056:A R1180I missense_variant 0.50 0
2:197396056:G R1180T missense_variant 0.50 0
2:197396069:A A1176S missense_variant 0.50 0
2:197396069:G A1176P missense_variant 0.50 0
2:197396069:T A1176T missense_variant 0.50 0
2:197396056:T R1180K missense_variant 0.50 0
2:197396072:A D1175Y missense_variant 0.50 0
2:197396072:G D1175H missense_variant 0.50 0
2:197396072:T D1175N missense_variant 0.50 0
2:197421087:A K81M missense_variant 0.50 0
2:197421088:G K81Q missense_variant 0.50 0
2:197421087:C K81R missense_variant 0.50 0
2:197421088:C K81E missense_variant 0.50 0
2:197421087:G K81T missense_variant 0.50 0
2:197396107:A K1163I missense_variant 0.50 0
2:197396104:G D1164A missense_variant 0.50 0
2:197396059:A D1179V missense_variant 0.50 0
2:197396059:C D1179G missense_variant 0.50 0
2:197396059:G D1179A missense_variant 0.50 0
2:197396063:A M1178L missense_variant 0.50 0
2:197396063:C M1178V missense_variant 0.50 0
2:197396063:G M1178L missense_variant 0.50 0
2:197396071:A D1175V missense_variant 0.50 0
2:197396071:C D1175G missense_variant 0.50 0
2:197396071:G D1175A missense_variant 0.50 0
2:197396104:C D1164G missense_variant 0.50 0
2:197396074:A E1174V missense_variant 0.50 0
2:197396074:C E1174G missense_variant 0.50 0
2:197396074:G E1174A missense_variant 0.50 0
2:197396087:A T1170S missense_variant 0.50 0
2:197396087:C T1170A missense_variant 0.50 0
2:197396087:G T1170P missense_variant 0.50 0
2:197396095:A Y1167F missense_variant 0.50 0
2:197396095:C Y1167C missense_variant 0.50 0
2:197396095:G Y1167S missense_variant 0.50 0
2:197396099:A I1166F missense_variant 0.50 0
2:197396099:C I1166V missense_variant 0.50 0
2:197396099:G I1166L missense_variant 0.50 0
2:197396101:A Y1165F missense_variant 0.50 0
2:197396101:C Y1165C missense_variant 0.50 0
2:197396101:G Y1165S missense_variant 0.50 0
2:197396104:A D1164V missense_variant 0.50 0
2:197396108:G K1163Q missense_variant 0.50 0
2:197396108:C K1163E missense_variant 0.50 0
2:197396107:G K1163T missense_variant 0.50 0
2:197396107:C K1163R missense_variant 0.50 0
In silico saturation mutagenesis
Alt text Show figure caption
Cancer type Selected cancer type Mutational discovery Index Feature Complexity
(BRCA) Breast adenocarcinoma BRCA 0.54 0.09