Mutation | AA change | Consequence type | BoostDM score | IntOGen frequency |
---|---|---|---|---|
12:112477651:C | F285S | missense_variant | 0.99 | 4 |
12:112489084:T | G507V | missense_variant | 1.00 | 2 |
12:112450407:T | E76V | missense_variant | 1.00 | 1 |
12:112450406:A | E76K | missense_variant | 1.00 | 1 |
12:112489081:T | S506L | missense_variant | 1.00 | 1 |
12:112450395:T | A72V | missense_variant | 1.00 | 1 |
12:112489084:A | G507E | missense_variant | 1.00 | 1 |
12:112450361:C | D61H | missense_variant | 1.00 | 1 |
12:112450361:T | D61Y | missense_variant | 1.00 | 1 |
12:112450361:A | D61N | missense_variant | 1.00 | 1 |
12:112450359:T | G60V | missense_variant | 1.00 | 1 |
12:112450359:C | G60A | missense_variant | 1.00 | 1 |
12:112472981:A | R265Q | missense_variant | 0.99 | 1 |
12:112473040:A | F285I | missense_variant | 0.98 | 1 |
12:112489080:G | S506A | missense_variant | 0.98 | 1 |
12:112450391:C | F71L | missense_variant | 0.77 | 1 |
12:112450407:C | E76A | missense_variant | 1.00 | 0 |
12:112450407:G | E76G | missense_variant | 1.00 | 0 |
12:112450394:T | A72S | missense_variant | 1.00 | 0 |
12:112450394:C | A72P | missense_variant | 1.00 | 0 |
12:112450406:C | E76Q | missense_variant | 1.00 | 0 |
12:112450394:A | A72T | missense_variant | 1.00 | 0 |
12:112450395:A | A72D | missense_variant | 1.00 | 0 |
12:112450395:G | A72G | missense_variant | 1.00 | 0 |
12:112489083:T | G507W | missense_variant | 1.00 | 0 |
12:112489083:C | G507R | missense_variant | 1.00 | 0 |
12:112489084:C | G507A | missense_variant | 1.00 | 0 |
12:112489083:A | G507R | missense_variant | 1.00 | 0 |
12:112450386:C | E69A | missense_variant | 1.00 | 0 |
12:112450386:T | E69V | missense_variant | 1.00 | 0 |
12:112450386:G | E69G | missense_variant | 1.00 | 0 |
12:112450397:C | T73P | missense_variant | 1.00 | 0 |
12:112450397:T | T73S | missense_variant | 1.00 | 0 |
12:112450397:G | T73A | missense_variant | 1.00 | 0 |
12:112450385:C | E69Q | missense_variant | 1.00 | 0 |
12:112450385:A | E69K | missense_variant | 1.00 | 0 |
12:112450362:G | D61G | missense_variant | 1.00 | 0 |
12:112450362:C | D61A | missense_variant | 1.00 | 0 |
12:112450362:T | D61V | missense_variant | 1.00 | 0 |
12:112450358:C | G60R | missense_variant | 1.00 | 0 |
12:112450358:A | G60S | missense_variant | 1.00 | 0 |
12:112450359:A | G60D | missense_variant | 1.00 | 0 |
12:112450358:T | G60C | missense_variant | 1.00 | 0 |
12:112477651:G | F285C | missense_variant | 0.99 | 0 |
12:112477651:A | F285Y | missense_variant | 0.99 | 0 |
12:112450406:T | E76* | stop_gained | 0.99 | 0 |
12:112489081:G | S506* | stop_gained | 0.99 | 0 |
12:112489081:A | S506* | stop_gained | 0.99 | 0 |
12:112450398:A | T73N | missense_variant | 0.99 | 0 |
12:112450398:T | T73I | missense_variant | 0.99 | 0 |
12:112450398:G | T73S | missense_variant | 0.99 | 0 |
12:112472981:C | R265P | missense_variant | 0.99 | 0 |
12:112472981:T | R265L | missense_variant | 0.99 | 0 |
12:112473040:C | F285L | missense_variant | 0.98 | 0 |
12:112489080:A | S506T | missense_variant | 0.98 | 0 |
12:112489080:C | S506P | missense_variant | 0.98 | 0 |
12:112473040:G | F285V | missense_variant | 0.98 | 0 |
12:112450385:T | E69* | stop_gained | 0.96 | 0 |
12:112450388:C | K70Q | missense_variant | 0.92 | 0 |
12:112450389:C | K70T | missense_variant | 0.92 | 0 |
12:112450389:G | K70R | missense_variant | 0.92 | 0 |
12:112450389:T | K70I | missense_variant | 0.92 | 0 |
12:112450388:G | K70E | missense_variant | 0.92 | 0 |
12:112472959:C | E258Q | missense_variant | 0.91 | 0 |
12:112472959:A | E258K | missense_variant | 0.91 | 0 |
12:112450387:C | E69D | missense_variant | 0.91 | 0 |
12:112450387:T | E69D | missense_variant | 0.91 | 0 |
12:112489086:T | M508L | missense_variant | 0.91 | 0 |
12:112473031:C | I282L | missense_variant | 0.91 | 0 |
12:112473031:G | I282V | missense_variant | 0.91 | 0 |
12:112473031:T | I282F | missense_variant | 0.91 | 0 |
12:112489086:G | M508V | missense_variant | 0.91 | 0 |
12:112489086:C | M508L | missense_variant | 0.91 | 0 |
12:112472960:C | E258A | missense_variant | 0.91 | 0 |
12:112472960:T | E258V | missense_variant | 0.91 | 0 |
12:112472960:G | E258G | missense_variant | 0.91 | 0 |
12:112450403:C | A75P | missense_variant | 0.90 | 0 |
12:112450403:T | A75S | missense_variant | 0.90 | 0 |
12:112450403:A | A75T | missense_variant | 0.90 | 0 |
12:112488444:C | A465P | missense_variant | 0.85 | 0 |
12:112488444:A | A465T | missense_variant | 0.85 | 0 |
12:112488444:T | A465S | missense_variant | 0.85 | 0 |
12:112489087:G | M508R | missense_variant | 0.83 | 0 |
12:112473032:A | I282N | missense_variant | 0.83 | 0 |
12:112473032:C | I282T | missense_variant | 0.83 | 0 |
12:112473032:G | I282S | missense_variant | 0.83 | 0 |
12:112489087:C | M508T | missense_variant | 0.83 | 0 |
12:112489087:A | M508K | missense_variant | 0.83 | 0 |
12:112450404:G | A75G | missense_variant | 0.80 | 0 |
12:112450404:T | A75V | missense_variant | 0.80 | 0 |
12:112450404:A | A75D | missense_variant | 0.80 | 0 |
12:112489088:A | M508I | missense_variant | 0.79 | 0 |
12:112489088:T | M508I | missense_variant | 0.79 | 0 |
12:112489088:C | M508I | missense_variant | 0.79 | 0 |
12:112450391:G | F71V | missense_variant | 0.77 | 0 |
12:112450401:C | L74S | missense_variant | 0.77 | 0 |
12:112450392:C | F71S | missense_variant | 0.77 | 0 |
12:112450392:G | F71C | missense_variant | 0.77 | 0 |
12:112450392:A | F71Y | missense_variant | 0.77 | 0 |
12:112450391:A | F71I | missense_variant | 0.77 | 0 |
12:112450401:G | L74W | missense_variant | 0.77 | 0 |
12:112450408:T | E76D | missense_variant | 0.76 | 0 |
12:112450408:C | E76D | missense_variant | 0.76 | 0 |
12:112488445:G | A465G | missense_variant | 0.75 | 0 |
12:112488445:A | A465D | missense_variant | 0.75 | 0 |
12:112488445:T | A465V | missense_variant | 0.75 | 0 |
12:112450363:A | D61E | missense_variant | 0.73 | 0 |
12:112450363:G | D61E | missense_variant | 0.73 | 0 |
12:112477652:A | F285L | missense_variant | 0.65 | 0 |
12:112477652:G | F285L | missense_variant | 0.65 | 0 |
12:112472980:G | R265G | missense_variant | 0.65 | 0 |
12:112450350:T | Q57L | missense_variant | 0.58 | 0 |
12:112450352:C | N58H | missense_variant | 0.58 | 0 |
12:112450346:G | I56V | missense_variant | 0.58 | 0 |
12:112450350:C | Q57P | missense_variant | 0.58 | 0 |
12:112450350:G | Q57R | missense_variant | 0.58 | 0 |
12:112450352:G | N58D | missense_variant | 0.58 | 0 |
12:112450352:T | N58Y | missense_variant | 0.58 | 0 |
12:112450353:C | N58T | missense_variant | 0.58 | 0 |
12:112450353:G | N58S | missense_variant | 0.58 | 0 |
12:112450353:T | N58I | missense_variant | 0.58 | 0 |
12:112450343:G | K55E | missense_variant | 0.58 | 0 |
12:112450343:C | K55Q | missense_variant | 0.58 | 0 |
12:112450340:T | I54F | missense_variant | 0.58 | 0 |
12:112450340:G | I54V | missense_variant | 0.58 | 0 |
12:112450340:C | I54L | missense_variant | 0.58 | 0 |
12:112450338:T | H53L | missense_variant | 0.58 | 0 |
12:112450338:G | H53R | missense_variant | 0.58 | 0 |
12:112450338:C | H53P | missense_variant | 0.58 | 0 |
12:112450344:C | K55T | missense_variant | 0.58 | 0 |
12:112450344:G | K55R | missense_variant | 0.58 | 0 |
12:112450344:T | K55M | missense_variant | 0.58 | 0 |
12:112450346:C | I56L | missense_variant | 0.58 | 0 |
12:112450371:C | D64A | missense_variant | 0.58 | 0 |
12:112450371:G | D64G | missense_variant | 0.58 | 0 |
12:112450371:T | D64V | missense_variant | 0.58 | 0 |
12:112450422:T | Y81F | missense_variant | 0.58 | 0 |
12:112450422:G | Y81C | missense_variant | 0.58 | 0 |
12:112450422:C | Y81S | missense_variant | 0.58 | 0 |
12:112450416:T | Q79L | missense_variant | 0.58 | 0 |
12:112450416:G | Q79R | missense_variant | 0.58 | 0 |
12:112450416:C | Q79P | missense_variant | 0.58 | 0 |
12:112450346:T | I56F | missense_variant | 0.58 | 0 |
12:112450377:T | Y66F | missense_variant | 0.58 | 0 |
12:112450377:C | Y66S | missense_variant | 0.58 | 0 |
12:112450377:G | Y66C | missense_variant | 0.58 | 0 |
12:112450365:C | Y62S | missense_variant | 0.58 | 0 |
12:112450365:G | Y62C | missense_variant | 0.58 | 0 |
12:112450365:T | Y62F | missense_variant | 0.58 | 0 |
12:112450368:C | Y63S | missense_variant | 0.58 | 0 |
12:112450368:G | Y63C | missense_variant | 0.58 | 0 |
12:112450368:T | Y63F | missense_variant | 0.58 | 0 |
12:112450388:T | K70* | stop_gained | 0.56 | 0 |
12:112450382:A | G68R | missense_variant | 0.53 | 0 |
12:112450382:C | G68R | missense_variant | 0.53 | 0 |
12:112450412:C | V78L | missense_variant | 0.53 | 0 |
12:112450412:T | V78F | missense_variant | 0.53 | 0 |
12:112450382:T | G68W | missense_variant | 0.53 | 0 |
12:112450383:A | G68E | missense_variant | 0.53 | 0 |
12:112450412:A | V78I | missense_variant | 0.53 | 0 |
12:112450370:A | D64N | missense_variant | 0.53 | 0 |
12:112450370:C | D64H | missense_variant | 0.53 | 0 |
12:112450370:T | D64Y | missense_variant | 0.53 | 0 |
12:112450383:C | G68A | missense_variant | 0.53 | 0 |
12:112450383:T | G68V | missense_variant | 0.53 | 0 |
12:112450379:A | G67R | missense_variant | 0.53 | 0 |
12:112450379:C | G67R | missense_variant | 0.53 | 0 |
12:112450380:A | G67E | missense_variant | 0.53 | 0 |
12:112450380:C | G67A | missense_variant | 0.53 | 0 |
12:112450380:T | G67V | missense_variant | 0.53 | 0 |
12:112446299:T | G13V | missense_variant | 0.53 | 0 |
12:112446278:C | W6S | missense_variant | 0.53 | 0 |
12:112446278:T | W6L | missense_variant | 0.53 | 0 |
12:112446398:T | R46I | missense_variant | 0.53 | 0 |
12:112446398:C | R46T | missense_variant | 0.53 | 0 |
12:112446398:A | R46K | missense_variant | 0.53 | 0 |
12:112446394:T | V45F | missense_variant | 0.53 | 0 |
12:112446394:C | V45L | missense_variant | 0.53 | 0 |
12:112446394:A | V45I | missense_variant | 0.53 | 0 |
12:112446379:T | D40Y | missense_variant | 0.53 | 0 |
12:112446379:C | D40H | missense_variant | 0.53 | 0 |
12:112446379:A | D40N | missense_variant | 0.53 | 0 |
12:112446377:T | G39V | missense_variant | 0.53 | 0 |
12:112446377:C | G39A | missense_variant | 0.53 | 0 |
12:112446377:A | G39E | missense_variant | 0.53 | 0 |
12:112446376:C | G39R | missense_variant | 0.53 | 0 |
12:112446376:A | G39R | missense_variant | 0.53 | 0 |
12:112446356:T | R32M | missense_variant | 0.53 | 0 |
12:112446356:C | R32T | missense_variant | 0.53 | 0 |
12:112446356:A | R32K | missense_variant | 0.53 | 0 |
12:112446352:T | A31S | missense_variant | 0.53 | 0 |
12:112446352:C | A31P | missense_variant | 0.53 | 0 |
12:112446352:A | A31T | missense_variant | 0.53 | 0 |
12:112446341:T | G27V | missense_variant | 0.53 | 0 |
12:112446341:C | G27A | missense_variant | 0.53 | 0 |
12:112446341:A | G27D | missense_variant | 0.53 | 0 |
12:112446340:T | G27C | missense_variant | 0.53 | 0 |
12:112446340:C | G27R | missense_variant | 0.53 | 0 |
12:112446340:A | G27S | missense_variant | 0.53 | 0 |
12:112446332:T | G24V | missense_variant | 0.53 | 0 |
12:112446332:C | G24A | missense_variant | 0.53 | 0 |
12:112446332:A | G24E | missense_variant | 0.53 | 0 |
12:112446331:C | G24R | missense_variant | 0.53 | 0 |
12:112446331:A | G24R | missense_variant | 0.53 | 0 |
12:112446329:T | R23I | missense_variant | 0.53 | 0 |
12:112446329:C | R23T | missense_variant | 0.53 | 0 |
12:112446329:A | R23K | missense_variant | 0.53 | 0 |
12:112446310:C | E17Q | missense_variant | 0.53 | 0 |
12:112446310:A | E17K | missense_variant | 0.53 | 0 |
12:112446307:T | A16S | missense_variant | 0.53 | 0 |
12:112446307:C | A16P | missense_variant | 0.53 | 0 |
12:112446307:A | A16T | missense_variant | 0.53 | 0 |
12:112446299:C | G13A | missense_variant | 0.53 | 0 |
12:112446299:A | G13D | missense_variant | 0.53 | 0 |
12:112446298:T | G13C | missense_variant | 0.53 | 0 |
12:112446298:C | G13R | missense_variant | 0.53 | 0 |
12:112446298:A | G13S | missense_variant | 0.53 | 0 |
12:112446279:T | W6C | missense_variant | 0.53 | 0 |
12:112446279:C | W6C | missense_variant | 0.53 | 0 |
12:112446362:T | S34I | missense_variant | 0.53 | 0 |
12:112446362:C | S34T | missense_variant | 0.53 | 0 |
12:112446362:A | S34N | missense_variant | 0.53 | 0 |
12:112446290:G | N10S | missense_variant | 0.52 | 0 |
12:112446290:T | N10I | missense_variant | 0.52 | 0 |
12:112446292:C | I11L | missense_variant | 0.52 | 0 |
12:112446284:T | H8L | missense_variant | 0.52 | 0 |
12:112446284:G | H8R | missense_variant | 0.52 | 0 |
12:112446284:C | H8P | missense_variant | 0.52 | 0 |
12:112446380:C | D40A | missense_variant | 0.52 | 0 |
12:112446295:T | T12S | missense_variant | 0.52 | 0 |
12:112446295:G | T12A | missense_variant | 0.52 | 0 |
12:112446295:C | T12P | missense_variant | 0.52 | 0 |
12:112446314:T | N18I | missense_variant | 0.52 | 0 |
12:112446314:G | N18S | missense_variant | 0.52 | 0 |
12:112446314:C | N18T | missense_variant | 0.52 | 0 |
12:112446311:T | E17V | missense_variant | 0.52 | 0 |
12:112446311:G | E17G | missense_variant | 0.52 | 0 |
12:112446371:T | N37I | missense_variant | 0.52 | 0 |
12:112446371:G | N37S | missense_variant | 0.52 | 0 |
12:112446371:C | N37T | missense_variant | 0.52 | 0 |
12:112446370:T | N37Y | missense_variant | 0.52 | 0 |
12:112446370:G | N37D | missense_variant | 0.52 | 0 |
12:112446370:C | N37H | missense_variant | 0.52 | 0 |
12:112446305:G | E15G | missense_variant | 0.52 | 0 |
12:112446305:C | E15A | missense_variant | 0.52 | 0 |
12:112446380:T | D40V | missense_variant | 0.52 | 0 |
12:112446290:C | N10T | missense_variant | 0.52 | 0 |
12:112446305:T | E15V | missense_variant | 0.52 | 0 |
12:112446311:C | E17A | missense_variant | 0.52 | 0 |
12:112446380:G | D40G | missense_variant | 0.52 | 0 |
12:112446292:T | I11F | missense_variant | 0.52 | 0 |
12:112446292:G | I11V | missense_variant | 0.52 | 0 |
12:112446361:G | S34G | missense_variant | 0.52 | 0 |
12:112446367:T | S36C | missense_variant | 0.52 | 0 |
12:112446367:G | S36G | missense_variant | 0.52 | 0 |
12:112446367:C | S36R | missense_variant | 0.52 | 0 |
12:112446361:T | S34C | missense_variant | 0.52 | 0 |
12:112446361:C | S34R | missense_variant | 0.52 | 0 |
12:112450331:A | V51I | missense_variant | 0.50 | 0 |
12:112450328:T | A50S | missense_variant | 0.50 | 0 |
12:112450331:T | V51F | missense_variant | 0.50 | 0 |
12:112450328:C | A50P | missense_variant | 0.50 | 0 |
12:112450331:C | V51L | missense_variant | 0.50 | 0 |
12:112450320:A | R47K | missense_variant | 0.50 | 0 |
12:112450320:C | R47T | missense_variant | 0.50 | 0 |
12:112450320:T | R47I | missense_variant | 0.50 | 0 |
12:112450325:A | G49R | missense_variant | 0.50 | 0 |
12:112450325:C | G49R | missense_variant | 0.50 | 0 |
12:112450328:A | A50T | missense_variant | 0.50 | 0 |
Cancer type | Selected cancer type | Mutational discovery Index | Feature Complexity |
---|---|---|---|
(AML) Acute myeloid leukemia | LK | 0.23 | 0.23 |