| Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
| KIT | 6342 | COSM22379, | testis | germ_cell_tumour | p.D820H | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99867 | 16741525 |
| KIT | 6342 | COSM22379, | soft_tissue | gastrointestinal_stromal_tumour | p.D820H | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99867 | 16952044 |
| KIT | 6342 | COSM22379, | genital_tract | germ_cell_tumour | p.D820H | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99867 | 26956871 |
| KIT | 6342 | COSM22379, | testis | germ_cell_tumour | p.D820H | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99867 | 26956871 |
| KIT | 6342 | COSM12710, | skin | malignant_melanoma | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 24802725 |
| KIT | 6342 | COSM12710, | soft_tissue | gastrointestinal_stromal_tumour | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 28481359 |
| KIT | 6342 | COSM12710, | skin | malignant_melanoma | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 21680547 |
| KIT | 6342 | COSM12710, | soft_tissue | gastrointestinal_stromal_tumour | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 15811621 |
| KIT | 6342 | COSM12710, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 27276561 |
| KIT | 6342 | COSM12710, | soft_tissue | gastrointestinal_stromal_tumour | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 28481359 |
| KIT | 6342 | COSM12710, | genital_tract | germ_cell_tumour | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 24452629 |
| KIT | 6342 | COSM12710, | soft_tissue | gastrointestinal_stromal_tumour | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 15685537 |
| KIT | 6342 | COSM12710, | soft_tissue | gastrointestinal_stromal_tumour | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 28481359 |
| KIT | 6342 | COSM12710, | genital_tract | germ_cell_tumour | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 28481359 |
| KIT | 6342 | COSM12710, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D820Y | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99863 | 27276561 |
| KIT | 6342 | COSM17947, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D820N | Substitution - Missense | 4:54733166-54733166, | PATHOGENIC | 0.99846 | 15643509 |
| KIT | 6342 | COSM1318, | soft_tissue | gastrointestinal_stromal_tumour | p.N822H | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.99845 | 11719439 |
| KIT | 6342 | COSM133670, | soft_tissue | gastrointestinal_stromal_tumour | p.D820A | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99845 | 21295327 |
| KIT | 6342 | COSM133670, | soft_tissue | gastrointestinal_stromal_tumour | p.D820A | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99845 | 28481359 |
| KIT | 6342 | COSM1317, | testis | germ_cell_tumour | p.D820V | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.9984 | 16188233 |
| KIT | 6342 | COSM19109, | genital_tract | germ_cell_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 26956871 |
| KIT | 6342 | COSM19109, | genital_tract | germ_cell_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 15471556 |
| KIT | 6342 | COSM19109, | soft_tissue | gastrointestinal_stromal_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 28481359 |
| KIT | 6342 | COSM19109, | genital_tract | germ_cell_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 28481359 |
| KIT | 6342 | COSM1317, | genital_tract | germ_cell_tumour | p.D820V | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.9984 | 15471556 |
| KIT | 6342 | COSM19109, | NS | malignant_melanoma | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 25148578 |
| KIT | 6342 | COSM19109, | NS | malignant_melanoma | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 25148578 |
| KIT | 6342 | COSM19109, | genital_tract | germ_cell_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 20001354 |
| KIT | 6342 | COSM1317, | genital_tract | germ_cell_tumour | p.D820V | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.9984 | 28481359 |
| KIT | 6342 | COSM19109, | testis | germ_cell_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 21403518 |
| KIT | 6342 | COSM19109, | soft_tissue | gastrointestinal_stromal_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 25886408 |
| KIT | 6342 | COSM19109, | soft_tissue | gastrointestinal_stromal_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 25886408 |
| KIT | 6342 | COSM19109, | skin | malignant_melanoma | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 21325067 |
| KIT | 6342 | COSM1317, | NS | malignant_melanoma | p.D820V | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.9984 | 28481359 |
| KIT | 6342 | COSM19109, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 19181784 |
| KIT | 6342 | COSM19109, | skin | malignant_melanoma | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 23014346 |
| KIT | 6342 | COSM19109, | soft_tissue | gastrointestinal_stromal_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 25886408 |
| KIT | 6342 | COSM19109, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 27276561 |
| KIT | 6342 | COSM19109, | genital_tract | germ_cell_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 28481359 |
| KIT | 6342 | COSM1317, | genital_tract | germ_cell_tumour | p.D820V | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.9984 | 12379771 |
| KIT | 6342 | COSM19109, | genital_tract | germ_cell_tumour | p.N822Y | Substitution - Missense | 4:54733172-54733172, | PATHOGENIC | 0.9984 | 28481359 |
| KIT | 6342 | COSM1317, | soft_tissue | gastrointestinal_stromal_tumour | p.D820V | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.9984 | 28481359 |
| KIT | 6342 | COSM18682, | testis | germ_cell_tumour | p.Y823C | Substitution - Missense | 4:54733176-54733176, | PATHOGENIC | 0.99823 | 16166280 |
| KIT | 6342 | COSM1316, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 19644024 |
| KIT | 6342 | COSM1316, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 9029028 |
| KIT | 6342 | COSM18682, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y823C | Substitution - Missense | 4:54733176-54733176, | PATHOGENIC | 0.99823 | 27276561 |
| KIT | 6342 | COSM1316, | testis | germ_cell_tumour | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 15150569 |
| KIT | 6342 | COSM1316, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 19176031 |
| KIT | 6342 | COSM1316, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 16460801 |
| KIT | 6342 | COSM18682, | skin | malignant_melanoma | p.Y823C | Substitution - Missense | 4:54733176-54733176, | PATHOGENIC | 0.99823 | 23993026 |
| KIT | 6342 | COSM18682, | testis | germ_cell_tumour | p.Y823C | Substitution - Missense | 4:54733176-54733176, | PATHOGENIC | 0.99823 | 14695343 |
| KIT | 6342 | COSM18682, | genital_tract | germ_cell_tumour | p.Y823C | Substitution - Missense | 4:54733176-54733176, | PATHOGENIC | 0.99823 | 24452629 |
| KIT | 6342 | COSM1316, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 19603346 |
| KIT | 6342 | COSM1316, | testis | germ_cell_tumour | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 21403518 |
| KIT | 6342 | COSM1316, | testis | germ_cell_tumour | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 28481359 |
| KIT | 6342 | COSM1316, | skin | malignant_melanoma | p.D820G | Substitution - Missense | 4:54733167-54733167, | PATHOGENIC | 0.99823 | 27153441 |
| KIT | 6342 | COSM18682, | genital_tract | germ_cell_tumour | p.Y823C | Substitution - Missense | 4:54733176-54733176, | PATHOGENIC | 0.99823 | 28481359 |
| KIT | 6342 | COSM18682, | genital_tract | germ_cell_tumour | p.Y823C | Substitution - Missense | 4:54733176-54733176, | PATHOGENIC | 0.99823 | 24896186 |
| KIT | 6342 | COSM18681, | large_intestine | carcinoma | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 28481359 |
| KIT | 6342 | COSM18681, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 27276561 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 19294538 |
| KIT | 6342 | COSM18681, | genital_tract | germ_cell_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 28481359 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 15811621 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 17566038 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 15150562 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 28481359 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 28481359 |
| KIT | 6342 | COSM18681, | testis | germ_cell_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 14695343 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 17566038 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 28481359 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 17566038 |
| KIT | 6342 | COSM18681, | testis | germ_cell_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 14695343 |
| KIT | 6342 | COSM18681, | soft_tissue | gastrointestinal_stromal_tumour | p.Y823D | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99764 | 17566038 |
| KIT | 6342 | COSM22378, | testis | germ_cell_tumour | p.Y823N | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99761 | 16741525 |
| KIT | 6342 | COSM1651649, | skin | malignant_melanoma | p.Y823H | Substitution - Missense | 4:54733175-54733175, | PATHOGENIC | 0.99756 | 23014346 |
| KIT | 6342 | COSM6932741, | prostate | carcinoma | p.D696Y | Substitution - Missense | 4:54729430-54729430, | PATHOGENIC | 0.99751 | 28481359 |
| KIT | 6342 | COSM6932741, | prostate | carcinoma | p.D696Y | Substitution - Missense | 4:54729430-54729430, | PATHOGENIC | 0.99751 | 28481359 |
| KIT | 6342 | COSM6438032, | lung | carcinoma | p.V824L | Substitution - Missense | 4:54733178-54733178, | PATHOGENIC | 0.99655 | 28481359 |
| KIT | 6342 | COSM6438032, | large_intestine | carcinoma | p.V824L | Substitution - Missense | 4:54733178-54733178, | PATHOGENIC | 0.99655 | 27756406 |
| KIT | 6342 | COSM1272088, | breast | carcinoma | p.G664A | Substitution - Missense | 4:54729335-54729335, | PATHOGENIC | 0.99594 | 23582602 |
| KIT | 6342 | COSM3604523, | skin | malignant_melanoma | p.N822I | Substitution - Missense | 4:54733173-54733173, | PATHOGENIC | 0.99571 | 26399561 |
| KIT | 6342 | COSM6980632, | large_intestine | carcinoma | p.R914I | Substitution - Missense | 4:54737219-54737219, | PATHOGENIC | 0.99561 | 28481359 |
| KIT | 6342 | COSM6963804, | large_intestine | carcinoma | p.W907L | Substitution - Missense | 4:54737198-54737198, | PATHOGENIC | 0.99561 | 28481359 |
| KIT | 6342 | COSM3301460, | oesophagus | carcinoma | p.G779C | Substitution - Missense | 4:54731972-54731972, | PATHOGENIC | 0.99522 | 24686850 |
| KIT | 6342 | COSM3301461, | oesophagus | carcinoma | p.? | Unknown | 4:54731999-54731999, | PATHOGENIC | 0.99519 | 24686850 |
| KIT | 6342 | COSM5609253, | skin | malignant_melanoma | p.G664E | Substitution - Missense | 4:54729335-54729335, | PATHOGENIC | 0.99504 | 26343386 |
| KIT | 6342 | COSM6437978, | large_intestine | carcinoma | p.D716H | Substitution - Missense | 4:54731332-54731332, | PATHOGENIC | 0.99487 | 27756406 |
| KIT | 6342 | COSM6968708, | breast | carcinoma | p.D975N | Substitution - Missense | 4:54738549-54738549, | PATHOGENIC | 0.99464 | 28481359 |
| KIT | 6342 | COSM6922279, | lung | carcinoma | p.S771C | Substitution - Missense | 4:54731948-54731948, | PATHOGENIC | 0.99464 | 28481359 |
| KIT | 6342 | COSM4385530, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D975V | Substitution - Missense | 4:54738550-54738550, | PATHOGENIC | 0.99462 | 24030381 |
| KIT | 6342 | COSM4992126, | skin | carcinoma | p.G779S | Substitution - Missense | 4:54731972-54731972, | PATHOGENIC | 0.9944 | 25589618 |
| KIT | 6342 | COSM6909331, | skin | carcinoma | p.M722I | Substitution - Missense | 4:54731352-54731352, | PATHOGENIC | 0.99401 | 28481359 |
| KIT | 6342 | COSM12707, | soft_tissue | gastrointestinal_stromal_tumour | p.D716N | Substitution - Missense | 4:54731332-54731332, | PATHOGENIC | 0.99394 | 15685537 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 15150569 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 22886749 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 15902997 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 10362788 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27288520 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27659839 |
| KIT | 6342 | COSM1311, | genital_tract | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26956871 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 25932436 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26956871 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 15902284 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 20112369 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16533529 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 25932436 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16291592 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 11074560 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 12701114 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 25932436 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 14695343 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 15650049 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 19644024 |
| KIT | 6342 | COSM1311, | soft_tissue | gastrointestinal_stromal_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 20032375 |
| KIT | 6342 | COSM1311, | ovary | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 15455230 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16533529 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16533529 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27276561 |
| KIT | 6342 | COSM1311, | skin | malignant_melanoma | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 19264228 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26956871 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 14695343 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 15650049 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27276561 |
| KIT | 6342 | COSM1311, | ovary | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 21523721 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16956837 |
| KIT | 6342 | COSM1311, | ovary | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 10362788 |
| KIT | 6342 | COSM1311, | ovary | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 17274819 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26980726 |
| KIT | 6342 | COSM1311, | ovary | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 21523721 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 19603346 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 19176031 |
| KIT | 6342 | COSM1311, | soft_tissue | gastrointestinal_stromal_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 20032375 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 21504297 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27276561 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26956871 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 12701114 |
| KIT | 6342 | COSM1311, | ovary | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26822237 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27276561 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26980726 |
| KIT | 6342 | COSM1311, | ovary | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 28481359 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26980726 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 12824871 |
| KIT | 6342 | COSM1311, | breast | carcinoma | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 22538770 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27276561 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27359055 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26980726 |
| KIT | 6342 | COSM1311, | ovary | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 10362788 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16188233 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26980726 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 19644024 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 12701114 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16254134 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 14695343 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 27288520 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 21403518 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 15902284 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 21403518 |
| KIT | 6342 | COSM1311, | testis | germ_cell_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16188233 |
| KIT | 6342 | COSM1311, | soft_tissue | gastrointestinal_stromal_tumour | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 21286759 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 16291592 |
| KIT | 6342 | COSM1311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99376 | 26980726 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15725473 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 9990072 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 27276561 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 9714703 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 27288520 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 22886749 |
| KIT | 6342 | COSM1310, | genital_tract | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 26956871 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 26980726 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 17976525 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 16254134 |
| KIT | 6342 | COSM1310, | testis | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 16741525 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 16254134 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 20112369 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 25932436 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 27288520 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 22886749 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19176031 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15902284 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19865100 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19644024 |
| KIT | 6342 | COSM1310, | ovary | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 17274819 |
| KIT | 6342 | COSM1310, | ovary | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 21523721 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 16533529 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 27276561 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15650049 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19698218 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 26980726 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19176031 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 16741248 |
| KIT | 6342 | COSM1310, | testis | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 16175573 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 21504297 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 21504297 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 9657776 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 21844580 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 27276561 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 25932436 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15650049 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15650049 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15371947 |
| KIT | 6342 | COSM1310, | testis | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15150569 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 16533529 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 26980726 |
| KIT | 6342 | COSM1310, | genital_tract | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 16572634 |
| KIT | 6342 | COSM1310, | testis | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15150569 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15167915 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19865100 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19176031 |
| KIT | 6342 | COSM1310, | genital_tract | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 26956871 |
| KIT | 6342 | COSM1310, | ovary | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 17274819 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19176031 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15650049 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 27276561 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15371947 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 27288520 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 19644024 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 26980726 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 10660321 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 9990072 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 17976525 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 25932436 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15725473 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 22886749 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15166264 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 23613835 |
| KIT | 6342 | COSM1310, | ovary | germ_cell_tumour | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 21523721 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 26980726 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 27534895 |
| KIT | 6342 | COSM1310, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816Y | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99326 | 15166264 |
| KIT | 6342 | COSM6926781, | skin | carcinoma | p.G866E | Substitution - Missense | 4:54736721-54736721, | PATHOGENIC | 0.99242 | 28481359 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM5749958, | genital_tract | germ_cell_tumour | p.C788Y | Substitution - Missense | 4:54733071-54733071, | PATHOGENIC | 0.99215 | 26956871 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1313, | breast | other | p.D816N | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99215 | 28648934 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1313, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D816N | Substitution - Missense | 4:54733154-54733154, | PATHOGENIC | 0.99215 | 10811105 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM1600411, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R796K | Substitution - Missense | 4:54733095-54733095, | PATHOGENIC | 0.99215 | 22939396 |
| KIT | 6342 | COSM6945539, | lung | carcinoma | p.T916K | Substitution - Missense | 4:54737225-54737225, | PATHOGENIC | 0.99204 | 28481359 |
| KIT | 6342 | COSM71350, | urinary_tract | carcinoma | p.R956Q | Substitution - Missense | 4:54738493-54738493, | PATHOGENIC | 0.99199 | 28481359 |
| KIT | 6342 | COSM5700969, | lung | carcinoma | p.G745C | Substitution - Missense | 4:54731419-54731419, | PATHOGENIC | 0.99186 | 26168399 |
| KIT | 6342 | COSM5609257, | skin | malignant_melanoma | p.P911L | Substitution - Missense | 4:54737210-54737210, | PATHOGENIC | 0.99186 | 26343386 |
| KIT | 6342 | COSM6942997, | urinary_tract | carcinoma | p.G866R | Substitution - Missense | 4:54736609-54736609, | PATHOGENIC | 0.9918 | 28481359 |
| KIT | 6342 | COSM24675, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816A | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99177 | 26980726 |
| KIT | 6342 | COSM24675, | genital_tract | germ_cell_tumour | p.D816A | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99177 | 24452629 |
| KIT | 6342 | COSM24675, | genital_tract | germ_cell_tumour | p.D816A | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99177 | 26956871 |
| KIT | 6342 | COSM24675, | testis | germ_cell_tumour | p.D816A | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99177 | 16188233 |
| KIT | 6342 | COSM24675, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816A | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99177 | 22847983 |
| KIT | 6342 | COSM24675, | testis | germ_cell_tumour | p.D816A | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99177 | 28481359 |
| KIT | 6342 | COSM1651644, | skin | malignant_melanoma | p.I817L | Substitution - Missense | 4:54733157-54733157, | PATHOGENIC | 0.99177 | 23014346 |
| KIT | 6342 | COSM24675, | genital_tract | germ_cell_tumour | p.D816A | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99177 | 24896186 |
| KIT | 6342 | COSM6916159, | ovary | carcinoma | p.L678I | Substitution - Missense | 4:54729376-54729376, | PATHOGENIC | 0.99126 | 28481359 |
| KIT | 6342 | COSM4992125, | skin | carcinoma | p.N680H | Substitution - Missense | 4:54729382-54729382, | PATHOGENIC | 0.99121 | 25589618 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17451799 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 22976956 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16505276 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17551405 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15512820 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 14695343 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11377687 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17451799 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 14695343 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | skin | malignant_melanoma | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19718013 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | genital_tract | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15471556 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27288520 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21403518 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18755984 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9858225 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9797083 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11040941 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27288520 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15902284 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9768597 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10792276 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | genital_tract | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 24452629 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16281072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21606963 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17096902 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10660321 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9856847 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12801532 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16400343 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12801532 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 22886749 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | ovary | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21523721 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16188233 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12676775 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15902284 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9130517 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15972446 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15650049 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15160946 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 22976956 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12842979 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9856847 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 7479840 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15725473 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | NS | malignant_melanoma | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 25148578 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10660321 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 25932436 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12007509 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 22886749 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27288520 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17191042 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12007509 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 28481359 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17451799 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17191042 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12702504 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15972446 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27534895 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17191042 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15902284 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 24030381 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12519307 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 14695343 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9768597 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20861915 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | ovary | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26822237 |
| KIT | 6342 | COSM1314, | ovary | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21523721 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17451799 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16166280 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 7479840 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19603346 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9768597 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12801532 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26956871 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12519307 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19644024 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27288520 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741525 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 7479840 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19698218 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9768597 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27659839 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15160946 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 22886749 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18224418 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 22886749 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21606963 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16400343 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15377487 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 28481359 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9768597 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | ovary | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17274819 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27881874 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17191042 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12801532 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12676775 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15650049 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12702504 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 14695343 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 14990611 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15257945 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16188233 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 28481359 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | genital_tract | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 24896186 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16111540 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 7691885 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10660321 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19603346 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27659839 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12007509 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15160946 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9856847 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18986703 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15902284 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15257945 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17551405 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | genital_tract | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26956871 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12091362 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10660321 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12091362 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16281072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12701114 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17451799 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16188233 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12091362 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12824871 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | ovary | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17551405 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12702504 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21606963 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12842979 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19644024 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | ovary | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17274819 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15160946 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 22886749 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11377687 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27486981 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26956871 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11377687 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16506600 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | skin | malignant_melanoma | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19718013 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19603346 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10468886 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | genital_tract | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 24896186 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19883434 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27288520 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15650049 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12824871 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27288520 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 28481359 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27359055 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 25932436 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19176031 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15725473 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10660321 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9768597 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9674408 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9768597 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12701114 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11377687 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27288520 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9856847 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15166264 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12801532 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17451799 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 14695343 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12676775 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15858149 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15722637 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 26980726 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 8589724 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17191042 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19865100 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 11380399 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 10706069 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17581610 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9856847 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16254134 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 17451799 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15257945 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16166280 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9858225 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 12363464 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | testis | germ_cell_tumour | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 14695343 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 7479840 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 7479840 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21606963 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16779792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16049512 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18579792 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 18165278 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 19603346 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20112369 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15371947 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9856847 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9990072 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16291592 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 9827716 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 15507672 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20471335 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 21354053 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 16741248 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 27276561 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 23074272 |
| KIT | 6342 | COSM1314, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99115 | 20061010 |
| KIT | 6342 | COSM12711, | soft_tissue | gastrointestinal_stromal_tumour | p.D816G | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99111 | 15685537 |
| KIT | 6342 | COSM12711, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816G | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99111 | 16400343 |
| KIT | 6342 | COSM12711, | lung | carcinoma | p.D816G | Substitution - Missense | 4:54733155-54733155, | PATHOGENIC | 0.99111 | 27068398 |
| KIT | 6342 | COSM6984297, | endometrium | carcinoma | p.N797D | Substitution - Missense | 4:54733097-54733097, | PATHOGENIC | 0.99111 | 28481359 |
| KIT | 6342 | COSM24690, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I817V | Substitution - Missense | 4:54733157-54733157, | PATHOGENIC | 0.99111 | 16741248 |
| KIT | 6342 | COSM6503541, | pancreas | carcinoid-endocrine_tumour | p.S773F | Substitution - Missense | 4:54731955-54731955, | PATHOGENIC | 0.99102 | 27994516 |
| KIT | 6342 | COSM6933443, | endometrium | carcinoma | p.F917S | Substitution - Missense | 4:54737228-54737228, | PATHOGENIC | 0.991 | 28481359 |
| KIT | 6342 | COSM5609249, | skin | malignant_melanoma | p.R830L | Substitution - Missense | 4:54736502-54736502, | PATHOGENIC | 0.99099 | 26343386 |
| KIT | 6342 | COSM21303, | large_intestine | carcinoma | p.D737N | Substitution - Missense | 4:54731395-54731395, | PATHOGENIC | 0.99093 | Info_not_available |
| KIT | 6342 | COSM21303, | large_intestine | carcinoma | p.D737N | Substitution - Missense | 4:54731395-54731395, | PATHOGENIC | 0.99093 | Info_not_available |
| KIT | 6342 | COSM1324, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E839K | Substitution - Missense | 4:54736528-54736528, | PATHOGENIC | 0.98993 | 9990072 |
| KIT | 6342 | COSM133767, | skin | malignant_melanoma | p.W853* | Substitution - Nonsense | 4:54736571-54736571, | PATHOGENIC | 0.98993 | 21325067 |
| KIT | 6342 | COSM6191355, | large_intestine | carcinoma | p.S840N | Substitution - Missense | 4:54736532-54736532, | PATHOGENIC | 0.98993 | 26488212 |
| KIT | 6342 | COSM1324, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E839K | Substitution - Missense | 4:54736528-54736528, | PATHOGENIC | 0.98993 | 9990072 |
| KIT | 6342 | COSM133780, | skin | malignant_melanoma | p.C844Y | Substitution - Missense | 4:54736544-54736544, | PATHOGENIC | 0.98993 | 21325067 |
| KIT | 6342 | COSM1324, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E839K | Substitution - Missense | 4:54736528-54736528, | PATHOGENIC | 0.98993 | 9990072 |
| KIT | 6342 | COSM1324, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E839K | Substitution - Missense | 4:54736528-54736528, | PATHOGENIC | 0.98993 | 16460801 |
| KIT | 6342 | COSM133767, | skin | malignant_melanoma | p.W853* | Substitution - Nonsense | 4:54736571-54736571, | PATHOGENIC | 0.98993 | 21325067 |
| KIT | 6342 | COSM29358, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D910Y | Substitution - Missense | 4:54737206-54737206, | PATHOGENIC | 0.98957 | 18830255 |
| KIT | 6342 | COSM53305, | skin | malignant_melanoma | p.F504L | Substitution - Missense | 4:54726020-54726020, | PATHOGENIC | 0.98954 | 21131919 |
| KIT | 6342 | COSM24639, | bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | p.N486D | Substitution - Missense | 4:54725966-54725966, | PATHOGENIC | 0.98922 | 17298867 |
| KIT | 6342 | COSM12708, | soft_tissue | gastrointestinal_stromal_tumour | p.T670I | Substitution - Missense | 4:54729353-54729353, | PATHOGENIC | 0.9892 | 25886408 |
| KIT | 6342 | COSM12708, | soft_tissue | gastrointestinal_stromal_tumour | p.T670I | Substitution - Missense | 4:54729353-54729353, | PATHOGENIC | 0.9892 | 15236194 |
| KIT | 6342 | COSM12708, | soft_tissue | gastrointestinal_stromal_tumour | p.T670I | Substitution - Missense | 4:54729353-54729353, | PATHOGENIC | 0.9892 | 15685537 |
| KIT | 6342 | COSM12708, | soft_tissue | gastrointestinal_stromal_tumour | p.T670I | Substitution - Missense | 4:54729353-54729353, | PATHOGENIC | 0.9892 | 15685537 |
| KIT | 6342 | COSM12708, | soft_tissue | gastrointestinal_stromal_tumour | p.T670I | Substitution - Missense | 4:54729353-54729353, | PATHOGENIC | 0.9892 | 15685537 |
| KIT | 6342 | COSM12708, | skin | carcinoma | p.T670I | Substitution - Missense | 4:54729353-54729353, | PATHOGENIC | 0.9892 | 28984303 |
| KIT | 6342 | COSM12708, | soft_tissue | gastrointestinal_stromal_tumour | p.T670I | Substitution - Missense | 4:54729353-54729353, | PATHOGENIC | 0.9892 | 19294538 |
| KIT | 6342 | COSM96867, | soft_tissue | gastrointestinal_stromal_tumour | p.F506L | Substitution - Missense | 4:54726026-54726026, | PATHOGENIC | 0.98905 | 20861712 |
| KIT | 6342 | COSM6980631, | large_intestine | carcinoma | p.D792N | Substitution - Missense | 4:54733082-54733082, | PATHOGENIC | 0.98899 | 28481359 |
| KIT | 6342 | COSM33975, | salivary_gland | carcinoma | p.N822S | Substitution - Missense | 4:54733173-54733173, | PATHOGENIC | 0.98882 | 19617878 |
| KIT | 6342 | COSM33975, | breast | carcinoma | p.N822S | Substitution - Missense | 4:54733173-54733173, | PATHOGENIC | 0.98882 | 22729910 |
| KIT | 6342 | COSM6437979, | large_intestine | carcinoma | p.Q549Q | Substitution - coding silent | 4:54727324-54727324, | PATHOGENIC | 0.98839 | 27756406 |
| KIT | 6342 | COSM6926286, | large_intestine | carcinoma | p.T139A | Substitution - Missense | 4:54698361-54698361, | PATHOGENIC | 0.98808 | 28481359 |
| KIT | 6342 | COSM13172, | genital_tract | germ_cell_tumour | p.A829P | Substitution - Missense | 4:54736498-54736498, | PATHOGENIC | 0.98806 | 24896186 |
| KIT | 6342 | COSM13172, | soft_tissue | gastrointestinal_stromal_tumour | p.A829P | Substitution - Missense | 4:54736498-54736498, | PATHOGENIC | 0.98806 | 28481359 |
| KIT | 6342 | COSM13172, | testis | germ_cell_tumour | p.A829P | Substitution - Missense | 4:54736498-54736498, | PATHOGENIC | 0.98806 | 16175573 |
| KIT | 6342 | COSM13172, | testis | germ_cell_tumour | p.A829P | Substitution - Missense | 4:54736498-54736498, | PATHOGENIC | 0.98806 | 26956871 |
| KIT | 6342 | COSM13172, | testis | germ_cell_tumour | p.A829P | Substitution - Missense | 4:54736498-54736498, | PATHOGENIC | 0.98806 | 28481359 |
| KIT | 6342 | COSM6984067, | large_intestine | carcinoma | p.Y846C | Substitution - Missense | 4:54736550-54736550, | PATHOGENIC | 0.98732 | 28481359 |
| KIT | 6342 | COSM96878, | soft_tissue | gastrointestinal_stromal_tumour | p.E695K | Substitution - Missense | 4:54729427-54729427, | PATHOGENIC | 0.98728 | 20861712 |
| KIT | 6342 | COSM4383743, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D760V | Substitution - Missense | 4:54731916-54731916, | PATHOGENIC | 0.98648 | 24030381 |
| KIT | 6342 | COSM96885, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 19865100 |
| KIT | 6342 | COSM96885, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 19865100 |
| KIT | 6342 | COSM96885, | soft_tissue | gastrointestinal_stromal_tumour | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 20861712 |
| KIT | 6342 | COSM96885, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 26980726 |
| KIT | 6342 | COSM96885, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 19865100 |
| KIT | 6342 | COSM96885, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 19865100 |
| KIT | 6342 | COSM96885, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 27288520 |
| KIT | 6342 | COSM96885, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 19865100 |
| KIT | 6342 | COSM96885, | soft_tissue | gastrointestinal_stromal_tumour | p.K509I | Substitution - Missense | 4:54726036-54726036, | PATHOGENIC | 0.98647 | 20861712 |
| KIT | 6342 | COSM18683, | testis | germ_cell_tumour | p.T801I | Substitution - Missense | 4:54733110-54733110, | PATHOGENIC | 0.98621 | 14695343 |
| KIT | 6342 | COSM18683, | lung | carcinoma | p.T801I | Substitution - Missense | 4:54733110-54733110, | PATHOGENIC | 0.98621 | 23965952 |
| KIT | 6342 | COSM6503447, | skin | malignant_melanoma | p.R804L | Substitution - Missense | 4:54733119-54733119, | PATHOGENIC | 0.98581 | 28356599 |
| KIT | 6342 | COSM6909485, | urinary_tract | carcinoma | p.? | Unknown | 4:54727217-54727217, | PATHOGENIC | 0.98527 | 28481359 |
| KIT | 6342 | COSM41703, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N819Y | Substitution - Missense | 4:54733163-54733163, | PATHOGENIC | 0.98525 | 20061010 |
| KIT | 6342 | COSM6935257, | endometrium | carcinoma | p.S729Y | Substitution - Missense | 4:54731372-54731372, | PATHOGENIC | 0.98525 | 28481359 |
| KIT | 6342 | COSM133762, | skin | malignant_melanoma | p.I817T | Substitution - Missense | 4:54733158-54733158, | PATHOGENIC | 0.9848 | 21325067 |
| KIT | 6342 | COSM133752, | skin | malignant_melanoma | p.I789T | Substitution - Missense | 4:54733074-54733074, | PATHOGENIC | 0.9848 | 21325067 |
| KIT | 6342 | COSM33970, | lung | carcinoma | p.L813P | Substitution - Missense | 4:54733146-54733146, | PATHOGENIC | 0.9848 | 28481359 |
| KIT | 6342 | COSM33970, | salivary_gland | carcinoma | p.L813P | Substitution - Missense | 4:54733146-54733146, | PATHOGENIC | 0.9848 | 19617878 |
| KIT | 6342 | COSM6951874, | lung | carcinoma | p.Y547N | Substitution - Missense | 4:54727316-54727316, | PATHOGENIC | 0.9843 | 28481359 |
| KIT | 6342 | COSM1227, | soft_tissue | gastrointestinal_stromal_tumour | p.W557S | Substitution - Missense | 4:54727438-54727438, | PATHOGENIC | 0.9829 | 19207305 |
| KIT | 6342 | COSM133700, | skin | malignant_melanoma | p.W557C | Substitution - Missense | 4:54727439-54727439, | PATHOGENIC | 0.9829 | 22791410 |
| KIT | 6342 | COSM1227, | testis | germ_cell_tumour | p.W557S | Substitution - Missense | 4:54727438-54727438, | PATHOGENIC | 0.9829 | 28481359 |
| KIT | 6342 | COSM1227, | thymus | thymic_carcinoma | p.W557S | Substitution - Missense | 4:54727438-54727438, | PATHOGENIC | 0.9829 | 28481359 |
| KIT | 6342 | COSM1227, | soft_tissue | gastrointestinal_stromal_tumour | p.W557S | Substitution - Missense | 4:54727438-54727438, | PATHOGENIC | 0.9829 | 19207305 |
| KIT | 6342 | COSM1227, | soft_tissue | gastrointestinal_stromal_tumour | p.W557S | Substitution - Missense | 4:54727438-54727438, | PATHOGENIC | 0.9829 | 9916918 |
| KIT | 6342 | COSM133700, | soft_tissue | gastrointestinal_stromal_tumour | p.W557C | Substitution - Missense | 4:54727439-54727439, | PATHOGENIC | 0.9829 | 21326036 |
| KIT | 6342 | COSM133700, | genital_tract | germ_cell_tumour | p.W557C | Substitution - Missense | 4:54727439-54727439, | PATHOGENIC | 0.9829 | 26956871 |
| KIT | 6342 | COSM6909486, | urinary_tract | carcinoma | p.? | Unknown | 4:54728010-54728010, | PATHOGENIC | 0.98286 | 28481359 |
| KIT | 6342 | COSM6865905, | breast | carcinoma | p.? | Unknown | 4:54698283-54698283, | PATHOGENIC | 0.98223 | 27284958 |
| KIT | 6342 | COSM6962178, | lung | carcinoma | p.P524H | Substitution - Missense | 4:54727248-54727248, | PATHOGENIC | 0.98182 | 28481359 |
| KIT | 6342 | COSM1056113, | adrenal_gland | adrenal_cortical_carcinoma | p.R888Q | Substitution - Missense | 4:54736787-54736787, | PATHOGENIC | 0.98181 | 28481359 |
| KIT | 6342 | COSM1056113, | biliary_tract | carcinoma | p.R888Q | Substitution - Missense | 4:54736787-54736787, | PATHOGENIC | 0.98181 | 29360550 |
| KIT | 6342 | COSM19108, | genital_tract | germ_cell_tumour | p.W557C | Substitution - Missense | 4:54727439-54727439, | PATHOGENIC | 0.98167 | 24452629 |
| KIT | 6342 | COSM19108, | genital_tract | germ_cell_tumour | p.W557C | Substitution - Missense | 4:54727439-54727439, | PATHOGENIC | 0.98167 | 26956871 |
| KIT | 6342 | COSM19108, | genital_tract | germ_cell_tumour | p.W557C | Substitution - Missense | 4:54727439-54727439, | PATHOGENIC | 0.98167 | 15471556 |
| KIT | 6342 | COSM144514, | skin | malignant_melanoma | p.G565V | Substitution - Missense | 4:54727462-54727462, | PATHOGENIC | 0.98167 | 22261812 |
| KIT | 6342 | COSM6943282, | urinary_tract | carcinoma | p.? | Unknown | 4:54727217-54727217, | PATHOGENIC | 0.98163 | 28481359 |
| KIT | 6342 | COSM6978927, | large_intestine | carcinoma | p.G745V | Substitution - Missense | 4:54731871-54731871, | PATHOGENIC | 0.9814 | 28481359 |
| KIT | 6342 | COSM6437985, | large_intestine | carcinoma | p.A507V | Substitution - Missense | 4:54726030-54726030, | PATHOGENIC | 0.98124 | 27756406 |
| KIT | 6342 | COSM1212555, | eye | malignant_melanoma | p.T847M | Substitution - Missense | 4:54736553-54736553, | PATHOGENIC | 0.98094 | 23633454 |
| KIT | 6342 | COSM96889, | soft_tissue | gastrointestinal_stromal_tumour | p.N505H | Substitution - Missense | 4:54726023-54726023, | PATHOGENIC | 0.98037 | 20861712 |
| KIT | 6342 | COSM5414815, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R804Q | Substitution - Missense | 4:54733119-54733119, | PATHOGENIC | 0.97988 | 27288520 |
| KIT | 6342 | COSM1272, | thyroid | carcinoma | p.G565R | Substitution - Missense | 4:54727461-54727461, | PATHOGENIC | 0.97986 | 26971368 |
| KIT | 6342 | COSM1231, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.W557* | Substitution - Nonsense | 4:54727439-54727439, | PATHOGENIC | 0.97986 | 11074541 |
| KIT | 6342 | COSM36305, | thyroid | carcinoma | p.W582* | Substitution - Nonsense | 4:54727513-54727513, | PATHOGENIC | 0.97986 | 26971368 |
| KIT | 6342 | COSM36305, | skin | adnexal_tumour | p.W582* | Substitution - Nonsense | 4:54727513-54727513, | PATHOGENIC | 0.97986 | 27311873 |
| KIT | 6342 | COSM36305, | skin | adnexal_tumour | p.W582* | Substitution - Nonsense | 4:54727513-54727513, | PATHOGENIC | 0.97986 | 27311873 |
| KIT | 6342 | COSM36305, | soft_tissue | gastrointestinal_stromal_tumour | p.W582* | Substitution - Nonsense | 4:54727513-54727513, | PATHOGENIC | 0.97986 | 19411681 |
| KIT | 6342 | COSM133701, | soft_tissue | gastrointestinal_stromal_tumour | p.R586K | Substitution - Missense | 4:54727525-54727525, | PATHOGENIC | 0.97986 | 21326036 |
| KIT | 6342 | COSM36305, | skin | malignant_melanoma | p.W582* | Substitution - Nonsense | 4:54727513-54727513, | PATHOGENIC | 0.97986 | 21325067 |
| KIT | 6342 | COSM144520, | skin | malignant_melanoma | p.G565E | Substitution - Missense | 4:54727462-54727462, | PATHOGENIC | 0.97986 | 22261812 |
| KIT | 6342 | COSM1272, | soft_tissue | gastrointestinal_stromal_tumour | p.G565R | Substitution - Missense | 4:54727461-54727461, | PATHOGENIC | 0.97986 | 10665649 |
| KIT | 6342 | COSM133769, | skin | malignant_melanoma | p.L859P | Substitution - Missense | 4:54736589-54736589, | PATHOGENIC | 0.9797 | 21325067 |
| KIT | 6342 | COSM29359, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S854P | Substitution - Missense | 4:54736573-54736573, | PATHOGENIC | 0.9797 | 18830255 |
| KIT | 6342 | COSM1738030, | genital_tract | germ_cell_tumour | p.M836T | Substitution - Missense | 4:54736520-54736520, | PATHOGENIC | 0.9797 | 26956871 |
| KIT | 6342 | COSM133772, | skin | malignant_melanoma | p.Y846H | Substitution - Missense | 4:54736549-54736549, | PATHOGENIC | 0.9797 | 21325067 |
| KIT | 6342 | COSM1738030, | genital_tract | germ_cell_tumour | p.M836T | Substitution - Missense | 4:54736520-54736520, | PATHOGENIC | 0.9797 | 24896186 |
| KIT | 6342 | COSM1738030, | genital_tract | germ_cell_tumour | p.M836T | Substitution - Missense | 4:54736520-54736520, | PATHOGENIC | 0.9797 | 24452629 |
| KIT | 6342 | COSM133761, | skin | malignant_melanoma | p.L831P | Substitution - Missense | 4:54736505-54736505, | PATHOGENIC | 0.97959 | 21325067 |
| KIT | 6342 | COSM5749123, | testis | germ_cell_tumour | p.N505Y | Substitution - Missense | 4:54726023-54726023, | PATHOGENIC | 0.97942 | 26956871 |
| KIT | 6342 | COSM6494995, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L117I | Substitution - Missense | 4:54698295-54698295, | PATHOGENIC | 0.97898 | 27534895 |
| KIT | 6342 | COSM6494995, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L117I | Substitution - Missense | 4:54698295-54698295, | PATHOGENIC | 0.97898 | 27534895 |
| KIT | 6342 | COSM6437988, | skin | malignant_melanoma | p.P524L | Substitution - Missense | 4:54727248-54727248, | PATHOGENIC | 0.97896 | 28356599 |
| KIT | 6342 | COSM6437988, | large_intestine | carcinoma | p.P524L | Substitution - Missense | 4:54727248-54727248, | PATHOGENIC | 0.97896 | 27756406 |
| KIT | 6342 | COSM1264, | skin | adnexal_tumour | p.E561K | Substitution - Missense | 4:54727449-54727449, | PATHOGENIC | 0.97875 | 27311873 |
| KIT | 6342 | COSM1264, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E561K | Substitution - Missense | 4:54727449-54727449, | PATHOGENIC | 0.97875 | 10811105 |
| KIT | 6342 | COSM1264, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E561K | Substitution - Missense | 4:54727449-54727449, | PATHOGENIC | 0.97875 | 15643509 |
| KIT | 6342 | COSM1264, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E561K | Substitution - Missense | 4:54727449-54727449, | PATHOGENIC | 0.97875 | 10811105 |
| KIT | 6342 | COSM1264, | soft_tissue | gastrointestinal_stromal_tumour | p.E561K | Substitution - Missense | 4:54727449-54727449, | PATHOGENIC | 0.97875 | 10485475 |
| KIT | 6342 | COSM1264, | soft_tissue | gastrointestinal_stromal_tumour | p.E561K | Substitution - Missense | 4:54727449-54727449, | PATHOGENIC | 0.97875 | 16770100 |
| KIT | 6342 | COSM1183, | soft_tissue | gastrointestinal_stromal_tumour | p.M552L | Substitution - Missense | 4:54727422-54727422, | PATHOGENIC | 0.97841 | 12759497 |
| KIT | 6342 | COSM1183, | soft_tissue | gastrointestinal_stromal_tumour | p.M552L | Substitution - Missense | 4:54727422-54727422, | PATHOGENIC | 0.97841 | 12759497 |
| KIT | 6342 | COSM7325469, | biliary_tract | carcinoma | p.N958T | Substitution - Missense | 4:54738499-54738499, | PATHOGENIC | 0.97834 | 29360550 |
| KIT | 6342 | COSM36296, | soft_tissue | gastrointestinal_stromal_tumour | p.Y568S | Substitution - Missense | 4:54727471-54727471, | PATHOGENIC | 0.97816 | 19411681 |
| KIT | 6342 | COSM219788, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D572A | Substitution - Missense | 4:54727483-54727483, | PATHOGENIC | 0.97816 | 19865100 |
| KIT | 6342 | COSM308543, | soft_tissue | gastrointestinal_stromal_tumour | p.I571L | Substitution - Missense | 4:54727479-54727479, | PATHOGENIC | 0.97816 | 22207557 |
| KIT | 6342 | COSM219784, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S476I | Substitution - Missense | 4:54725937-54725937, | PATHOGENIC | 0.97809 | 19865100 |
| KIT | 6342 | COSM6951782, | central_nervous_system | glioma | p.P869L | Substitution - Missense | 4:54736730-54736730, | PATHOGENIC | 0.97803 | 28481359 |
| KIT | 6342 | COSM6191541, | large_intestine | carcinoma | p.I39V | Substitution - Missense | 4:54695559-54695559, | PATHOGENIC | 0.97734 | 25617745 |
| KIT | 6342 | COSM22374, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K558* | Substitution - Nonsense | 4:54727440-54727440, | PATHOGENIC | 0.97655 | 16321856 |
| KIT | 6342 | COSM1430154, | genital_tract | germ_cell_tumour | p.D572G | Substitution - Missense | 4:54727483-54727483, | PATHOGENIC | 0.97649 | 24452629 |
| KIT | 6342 | COSM30551, | salivary_gland | carcinoma | p.K558E | Substitution - Missense | 4:54727440-54727440, | PATHOGENIC | 0.97649 | 19617878 |
| KIT | 6342 | COSM1430154, | genital_tract | germ_cell_tumour | p.D572G | Substitution - Missense | 4:54727483-54727483, | PATHOGENIC | 0.97649 | 26956871 |
| KIT | 6342 | COSM30551, | genital_tract | germ_cell_tumour | p.K558E | Substitution - Missense | 4:54727440-54727440, | PATHOGENIC | 0.97649 | 26956871 |
| KIT | 6342 | COSM1273, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N566D | Substitution - Missense | 4:54727464-54727464, | PATHOGENIC | 0.97649 | 11927008 |
| KIT | 6342 | COSM6503446, | skin | malignant_melanoma | p.Y578C | Substitution - Missense | 4:54727501-54727501, | PATHOGENIC | 0.97649 | 28356599 |
| KIT | 6342 | COSM1273, | skin | malignant_melanoma | p.N566D | Substitution - Missense | 4:54727464-54727464, | PATHOGENIC | 0.97649 | 21325067 |
| KIT | 6342 | COSM1430154, | skin | malignant_melanoma | p.D572G | Substitution - Missense | 4:54727483-54727483, | PATHOGENIC | 0.97649 | 23993026 |
| KIT | 6342 | COSM30551, | skin | malignant_melanoma | p.K558E | Substitution - Missense | 4:54727440-54727440, | PATHOGENIC | 0.97649 | 22791410 |
| KIT | 6342 | COSM28990, | soft_tissue | gastrointestinal_stromal_tumour | p.K581R | Substitution - Missense | 4:54727510-54727510, | PATHOGENIC | 0.97649 | 18488000 |
| KIT | 6342 | COSM1430154, | genital_tract | germ_cell_tumour | p.D572G | Substitution - Missense | 4:54727483-54727483, | PATHOGENIC | 0.97649 | 28481359 |
| KIT | 6342 | COSM133779, | skin | malignant_melanoma | p.E583G | Substitution - Missense | 4:54727516-54727516, | PATHOGENIC | 0.97649 | 21325067 |
| KIT | 6342 | COSM1193, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E554G | Substitution - Missense | 4:54727429-54727429, | PATHOGENIC | 0.97649 | 11927008 |
| KIT | 6342 | COSM1278, | soft_tissue | gastrointestinal_stromal_tumour | p.Y568C | Substitution - Missense | 4:54727471-54727471, | PATHOGENIC | 0.97649 | 10665649 |
| KIT | 6342 | COSM30551, | skin | malignant_melanoma | p.K558E | Substitution - Missense | 4:54727440-54727440, | PATHOGENIC | 0.97649 | 19264228 |
| KIT | 6342 | COSM5487490, | skin | malignant_melanoma | p.A533D | Substitution - Missense | 4:54727275-54727275, | PATHOGENIC | 0.97624 | 28481359 |
| KIT | 6342 | COSM5487490, | skin | malignant_melanoma | p.A533D | Substitution - Missense | 4:54727275-54727275, | PATHOGENIC | 0.97624 | 28481359 |
| KIT | 6342 | COSM133699, | soft_tissue | gastrointestinal_stromal_tumour | p.G510D | Substitution - Missense | 4:54726039-54726039, | PATHOGENIC | 0.97618 | 21326036 |
| KIT | 6342 | COSM1272087, | breast | carcinoma | p.G664R | Substitution - Missense | 4:54728121-54728121, | PATHOGENIC | 0.97611 | 23582602 |
| KIT | 6342 | COSM327106, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D131N | Substitution - Missense | 4:54698337-54698337, | PATHOGENIC | 0.97583 | 22675565 |
| KIT | 6342 | COSM1578125, | skin | malignant_melanoma | p.S864F | Substitution - Missense | 4:54736604-54736604, | PATHOGENIC | 0.97573 | 25363280 |
| KIT | 6342 | COSM1578125, | skin | malignant_melanoma | p.S864F | Substitution - Missense | 4:54736604-54736604, | PATHOGENIC | 0.97573 | 22791410 |
| KIT | 6342 | COSM19110, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V825I | Substitution - Missense | 4:54733181-54733181, | PATHOGENIC | 0.97545 | 16460801 |
| KIT | 6342 | COSM19110, | genital_tract | germ_cell_tumour | p.V825I | Substitution - Missense | 4:54733181-54733181, | PATHOGENIC | 0.97545 | 24896186 |
| KIT | 6342 | COSM19110, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V825I | Substitution - Missense | 4:54733181-54733181, | PATHOGENIC | 0.97545 | 15650049 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 21606963 |
| KIT | 6342 | COSM1322, | genital_tract | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26956871 |
| KIT | 6342 | COSM1322, | genital_tract | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 24452629 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 20400977 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 22233328 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 28481359 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 23613835 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 28481359 |
| KIT | 6342 | COSM1322, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 28481359 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 21606963 |
| KIT | 6342 | COSM1322, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 14695343 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 27276561 |
| KIT | 6342 | COSM1322, | upper_aerodigestive_tract | carcinoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 28581676 |
| KIT | 6342 | COSM1322, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26956871 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 18623623 |
| KIT | 6342 | COSM1322, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 15811621 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 22976956 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 19644024 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | genital_tract | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26956871 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 19603346 |
| KIT | 6342 | COSM1322, | skin | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 21680547 |
| KIT | 6342 | COSM1322, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 21394667 |
| KIT | 6342 | COSM1322, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 21394667 |
| KIT | 6342 | COSM1322, | genital_tract | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 12379771 |
| KIT | 6342 | COSM1322, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 16175573 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 27276561 |
| KIT | 6342 | COSM1322, | NS | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 25148578 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 27276561 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 27276561 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | genital_tract | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26956871 |
| KIT | 6342 | COSM1322, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 18623623 |
| KIT | 6342 | COSM1322, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 18623623 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 26980726 |
| KIT | 6342 | COSM1322, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 27276561 |
| KIT | 6342 | COSM1322, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97533 | 28481359 |
| KIT | 6342 | COSM6977659, | lung | carcinoma | p.V204L | Substitution - Missense | 4:54698556-54698556, | PATHOGENIC | 0.97525 | 28481359 |
| KIT | 6342 | COSM36313, | eye | malignant_melanoma | p.W582* | Substitution - Nonsense | 4:54727514-54727514, | PATHOGENIC | 0.9752 | 21478825 |
| KIT | 6342 | COSM36313, | soft_tissue | gastrointestinal_stromal_tumour | p.W582* | Substitution - Nonsense | 4:54727514-54727514, | PATHOGENIC | 0.9752 | 19411681 |
| KIT | 6342 | COSM133777, | skin | malignant_melanoma | p.E561G | Substitution - Missense | 4:54727450-54727450, | PATHOGENIC | 0.97505 | 21325067 |
| KIT | 6342 | COSM30732, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N564S | Substitution - Missense | 4:54727459-54727459, | PATHOGENIC | 0.97505 | 16596195 |
| KIT | 6342 | COSM6006378, | NS | malignant_melanoma | p.P573R | Substitution - Missense | 4:54727486-54727486, | PATHOGENIC | 0.97493 | 25148578 |
| KIT | 6342 | COSM133634, | soft_tissue | gastrointestinal_stromal_tumour | p.G663V | Substitution - Missense | 4:54728119-54728119, | PATHOGENIC | 0.97464 | 21286759 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 27276561 |
| KIT | 6342 | COSM1321, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 28481359 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 20861712 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 26316776 |
| KIT | 6342 | COSM1321, | skin | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 21325067 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 18623623 |
| KIT | 6342 | COSM1321, | genital_tract | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 26956871 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 21237497 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 27288520 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 28481359 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 18623623 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 26980726 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 21394667 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 27276561 |
| KIT | 6342 | COSM1321, | skin | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 28481359 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 28481359 |
| KIT | 6342 | COSM1321, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 26956871 |
| KIT | 6342 | COSM1321, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 28481359 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 18385756 |
| KIT | 6342 | COSM1321, | skin | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 28481359 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 18483300 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 15685537 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 12111653 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 19603346 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 18385756 |
| KIT | 6342 | COSM1321, | skin | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 21569090 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 27288520 |
| KIT | 6342 | COSM1321, | genital_tract | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 24452629 |
| KIT | 6342 | COSM1321, | skin | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 21325067 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 26980726 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 27534895 |
| KIT | 6342 | COSM1321, | skin | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 28481359 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 27276561 |
| KIT | 6342 | COSM1321, | NS | malignant_melanoma | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 25148578 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 16842259 |
| KIT | 6342 | COSM1321, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 26956871 |
| KIT | 6342 | COSM1321, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 24997326 |
| KIT | 6342 | COSM1321, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | 4:54733174-54733174, | PATHOGENIC | 0.97419 | 27276561 |
| KIT | 6342 | COSM4383740, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S476N | Substitution - Missense | 4:54725937-54725937, | PATHOGENIC | 0.97415 | 24030381 |
| KIT | 6342 | COSM1173, | soft_tissue | gastrointestinal_stromal_tumour | p.P551T | Substitution - Missense | 4:54727419-54727419, | PATHOGENIC | 0.97406 | 12759497 |
| KIT | 6342 | COSM5977741, | central_nervous_system | glioma | p.M780L | Substitution - Missense | 4:54731975-54731975, | PATHOGENIC | 0.97391 | 26487540 |
| KIT | 6342 | COSM133782, | NS | malignant_melanoma | p.P577H | Substitution - Missense | 4:54727498-54727498, | PATHOGENIC | 0.9737 | 21325067 |
| KIT | 6342 | COSM6923678, | soft_tissue | gastrointestinal_stromal_tumour | p.C233S | Substitution - Missense | 4:54699708-54699708, | PATHOGENIC | 0.97342 | 28481359 |
| KIT | 6342 | COSM6939883, | ovary | carcinoma | p.G328E | Substitution - Missense | 4:54707155-54707155, | PATHOGENIC | 0.9731 | 28481359 |
| KIT | 6342 | COSM5966108, | large_intestine | carcinoma | p.T500S | Substitution - Missense | 4:54726008-54726008, | PATHOGENIC | 0.9731 | 26517354 |
| KIT | 6342 | COSM5656396, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L799F | Substitution - Missense | 4:54733103-54733103, | PATHOGENIC | 0.97281 | 23388130 |
| KIT | 6342 | COSM71352, | large_intestine | carcinoma | p.G961S | Substitution - Missense | 4:54738507-54738507, | PATHOGENIC | 0.97248 | 28915719 |
| KIT | 6342 | COSM71352, | upper_aerodigestive_tract | carcinoma | p.G961S | Substitution - Missense | 4:54738507-54738507, | PATHOGENIC | 0.97248 | 28481359 |
| KIT | 6342 | COSM71352, | large_intestine | carcinoma | p.G961S | Substitution - Missense | 4:54738507-54738507, | PATHOGENIC | 0.97248 | 28481359 |
| KIT | 6342 | COSM6971909, | lung | carcinoma | p.I542T | Substitution - Missense | 4:54727302-54727302, | PATHOGENIC | 0.97229 | 28481359 |
| KIT | 6342 | COSM6503540, | pancreas | carcinoid-endocrine_tumour | p.G598E | Substitution - Missense | 4:54727841-54727841, | PATHOGENIC | 0.97174 | 27994516 |
| KIT | 6342 | COSM51380, | salivary_gland | carcinoma | p.G664R | Substitution - Missense | 4:54728121-54728121, | PATHOGENIC | 0.97171 | 20824047 |
| KIT | 6342 | COSM4383741, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 4:54727928-54727928, | PATHOGENIC | 0.97154 | 24030381 |
| KIT | 6342 | COSM4383741, | urinary_tract | carcinoma | p.? | Unknown | 4:54727928-54727928, | PATHOGENIC | 0.97154 | 28481359 |
| KIT | 6342 | COSM6908946, | soft_tissue | gastrointestinal_stromal_tumour | p.L783V | Substitution - Missense | 4:54731984-54731984, | PATHOGENIC | 0.97136 | 28481359 |
| KIT | 6342 | COSM133760, | skin | malignant_melanoma | p.G648S | Substitution - Missense | 4:54728073-54728073, | PATHOGENIC | 0.97134 | 21325067 |
| KIT | 6342 | COSM4169981, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y774H | Substitution - Missense | 4:54731957-54731957, | PATHOGENIC | 0.97116 | 24345752 |
| KIT | 6342 | COSM1286, | soft_tissue | gastrointestinal_stromal_tumour | p.D572Y | Substitution - Missense | 4:54727482-54727482, | PATHOGENIC | 0.9708 | 10485475 |
| KIT | 6342 | COSM1286, | lung | carcinoma | p.D572Y | Substitution - Missense | 4:54727482-54727482, | PATHOGENIC | 0.9708 | 28481359 |
| KIT | 6342 | COSM5945006, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L576R | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.97073 | 27276561 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 18408593 |
| KIT | 6342 | COSM1253, | breast | carcinoma | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 28481359 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 15342366 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 12960119 |
| KIT | 6342 | COSM1221, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 27276561 |
| KIT | 6342 | COSM1253, | skin | malignant_melanoma | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 22261812 |
| KIT | 6342 | COSM1277, | soft_tissue | gastrointestinal_stromal_tumour | p.Y568D | Substitution - Missense | 4:54727470-54727470, | PATHOGENIC | 0.97073 | 14694524 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 22111084 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 16297706 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 12960119 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 10485475 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 15342366 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 28481359 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 12960119 |
| KIT | 6342 | COSM1277, | soft_tissue | gastrointestinal_stromal_tumour | p.Y568D | Substitution - Missense | 4:54727470-54727470, | PATHOGENIC | 0.97073 | 10485475 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 16166437 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 15897563 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 11023095 |
| KIT | 6342 | COSM6006379, | NS | malignant_melanoma | p.K826T | Substitution - Missense | 4:54733185-54733185, | PATHOGENIC | 0.97073 | 25148578 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 15342366 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 20861712 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 16166437 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 16297706 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 18488000 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 16166437 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 11719439 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 16297706 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 20861712 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 12960119 |
| KIT | 6342 | COSM1221, | NS | malignant_melanoma | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 25148578 |
| KIT | 6342 | COSM1221, | skin | malignant_melanoma | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 22261812 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 18779314 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 22350270 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 18488000 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 18779314 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 11850541 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 18779314 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 15342366 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 10485475 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 18779314 |
| KIT | 6342 | COSM1221, | genital_tract | germ_cell_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 28481359 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 15342366 |
| KIT | 6342 | COSM41629, | soft_tissue | gastrointestinal_stromal_tumour | p.I571R | Substitution - Missense | 4:54727480-54727480, | PATHOGENIC | 0.97073 | 20079191 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 21286759 |
| KIT | 6342 | COSM1253, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.97073 | 28481359 |
| KIT | 6342 | COSM1221, | soft_tissue | gastrointestinal_stromal_tumour | p.W557G | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.97073 | 21326036 |
| KIT | 6342 | COSM1260, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 20061010 |
| KIT | 6342 | COSM1260, | soft_tissue | gastrointestinal_stromal_tumour | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 24997326 |
| KIT | 6342 | COSM1260, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 12519307 |
| KIT | 6342 | COSM1260, | soft_tissue | gastrointestinal_stromal_tumour | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 21326036 |
| KIT | 6342 | COSM1260, | soft_tissue | gastrointestinal_stromal_tumour | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 11719439 |
| KIT | 6342 | COSM1260, | soft_tissue | gastrointestinal_stromal_tumour | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 12960119 |
| KIT | 6342 | COSM1260, | soft_tissue | gastrointestinal_stromal_tumour | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 15342366 |
| KIT | 6342 | COSM1260, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 12519307 |
| KIT | 6342 | COSM1260, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 16844528 |
| KIT | 6342 | COSM1260, | skin | malignant_melanoma | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 22281663 |
| KIT | 6342 | COSM1260, | soft_tissue | gastrointestinal_stromal_tumour | p.V560G | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.97069 | 15897563 |
| KIT | 6342 | COSM36316, | soft_tissue | gastrointestinal_stromal_tumour | p.N566S | Substitution - Missense | 4:54727465-54727465, | PATHOGENIC | 0.9704 | 19411681 |
| KIT | 6342 | COSM6437984, | large_intestine | carcinoma | p.A533V | Substitution - Missense | 4:54727275-54727275, | PATHOGENIC | 0.96995 | 27756406 |
| KIT | 6342 | COSM6937680, | urinary_tract | carcinoma | p.A629T | Substitution - Missense | 4:54728016-54728016, | PATHOGENIC | 0.96958 | 28481359 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 16166437 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 25182956 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 16166437 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 9438854 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 18779314 |
| KIT | 6342 | COSM1252, | skin | malignant_melanoma | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 21680547 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 20861712 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 23479771 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 11850541 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 11719439 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 22350270 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 28481359 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 19047911 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 11719439 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12000708 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 20861712 |
| KIT | 6342 | COSM1216, | skin | malignant_melanoma | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 22154054 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 16685437 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 28481359 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 20861712 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 21326036 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 19411681 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 12949711 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 19572146 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 15540118 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 19207305 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 21326036 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 20861712 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 24997326 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 15540118 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 20861712 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 23479771 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 28481359 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 17659683 |
| KIT | 6342 | COSM1216, | NS | malignant_melanoma | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 25148578 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12759497 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 28481359 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12000708 |
| KIT | 6342 | COSM1252, | NS | malignant_melanoma | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 25148578 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 15897563 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 22207557 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 15540118 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 10835530 |
| KIT | 6342 | COSM1216, | testis | germ_cell_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 21403518 |
| KIT | 6342 | COSM1216, | genital_tract | germ_cell_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 24452629 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 28481359 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12727838 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 11719439 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 21286759 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 19119132 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 15897563 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 28481359 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 10485475 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 11719439 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 15897563 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 11507701 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 22175303 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 19084944 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 19207305 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 25182956 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 21326036 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12949711 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 23479771 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 25182956 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12918066 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 22350270 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 21326036 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 20133985 |
| KIT | 6342 | COSM1252, | skin | malignant_melanoma | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 22643209 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 11850541 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 10485475 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 25182956 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 23057997 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 10485475 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 16166437 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 11474281 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12727838 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 22350270 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 16166437 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 22207557 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 20133985 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 15223958 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 20861712 |
| KIT | 6342 | COSM1216, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 24997326 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 11719439 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12918066 |
| KIT | 6342 | COSM1216, | thymus | thymic_carcinoma | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96942 | 22357254 |
| KIT | 6342 | COSM1252, | skin | malignant_melanoma | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 22513068 |
| KIT | 6342 | COSM1252, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96942 | 12960119 |
| KIT | 6342 | COSM1257, | skin | malignant_melanoma | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 23993026 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 12190287 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 9881963 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 16166437 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11786393 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 24997326 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 15062876 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 20861712 |
| KIT | 6342 | COSM1257, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 7691885 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 15112348 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 19333543 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 10485475 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 10485475 |
| KIT | 6342 | COSM1257, | skin | malignant_melanoma | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 26399561 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 16166437 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 20861712 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11786393 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 18779314 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 12960119 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 9916918 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 14694524 |
| KIT | 6342 | COSM1257, | skin | malignant_melanoma | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 21325067 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11786393 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 12960119 |
| KIT | 6342 | COSM1257, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 9858225 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 22207557 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 19411681 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 24997326 |
| KIT | 6342 | COSM1257, | genital_tract | germ_cell_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 16572634 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 12190287 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 18223342 |
| KIT | 6342 | COSM1257, | skin | malignant_melanoma | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 18936790 |
| KIT | 6342 | COSM1257, | skin | malignant_melanoma | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 22261812 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 12000708 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 19411681 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 10086344 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 15223958 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 28481359 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11474281 |
| KIT | 6342 | COSM1257, | skin | malignant_melanoma | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 21680547 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 12717247 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11023095 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 28481359 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 21326036 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 12960119 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 12918066 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 16842246 |
| KIT | 6342 | COSM1257, | breast | carcinoma | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 23582602 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 20861712 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 10485475 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11688571 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 18779314 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11023095 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11786393 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 10485475 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 10485475 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 15112348 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 22399613 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 15062876 |
| KIT | 6342 | COSM1257, | soft_tissue | gastrointestinal_stromal_tumour | p.V560D | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96937 | 11786393 |
| KIT | 6342 | COSM96871, | soft_tissue | gastrointestinal_stromal_tumour | p.K642Q | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96921 | 20861712 |
| KIT | 6342 | COSM96871, | testis | germ_cell_tumour | p.K642Q | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96921 | 28481359 |
| KIT | 6342 | COSM96871, | skin | malignant_melanoma | p.K642Q | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96921 | 26744134 |
| KIT | 6342 | COSM133763, | thymus | thymic_carcinoma | p.Y553N | Substitution - Missense | 4:54727425-54727425, | PATHOGENIC | 0.96917 | 21969494 |
| KIT | 6342 | COSM133763, | skin | malignant_melanoma | p.Y553N | Substitution - Missense | 4:54727425-54727425, | PATHOGENIC | 0.96917 | 21325067 |
| KIT | 6342 | COSM133763, | thymus | thymic_carcinoma | p.Y553N | Substitution - Missense | 4:54727425-54727425, | PATHOGENIC | 0.96917 | 22357254 |
| KIT | 6342 | COSM6970309, | ovary | carcinoma | p.S261I | Substitution - Missense | 4:54703749-54703749, | PATHOGENIC | 0.96904 | 28481359 |
| KIT | 6342 | COSM219783, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.C443Y | Substitution - Missense | 4:54723680-54723680, | PATHOGENIC | 0.96887 | 19865100 |
| KIT | 6342 | COSM33965, | genital_tract | germ_cell_tumour | p.P551L | Substitution - Missense | 4:54727420-54727420, | PATHOGENIC | 0.96862 | 26956871 |
| KIT | 6342 | COSM1168, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P551S | Substitution - Missense | 4:54727419-54727419, | PATHOGENIC | 0.96862 | 11927008 |
| KIT | 6342 | COSM33965, | breast | carcinoma | p.P551L | Substitution - Missense | 4:54727420-54727420, | PATHOGENIC | 0.96862 | 22729910 |
| KIT | 6342 | COSM33965, | salivary_gland | carcinoma | p.P551L | Substitution - Missense | 4:54727420-54727420, | PATHOGENIC | 0.96862 | 19617878 |
| KIT | 6342 | COSM33965, | skin | adnexal_tumour | p.P551L | Substitution - Missense | 4:54727420-54727420, | PATHOGENIC | 0.96862 | 27311873 |
| KIT | 6342 | COSM33965, | skin | malignant_melanoma | p.P551L | Substitution - Missense | 4:54727420-54727420, | PATHOGENIC | 0.96862 | 21325067 |
| KIT | 6342 | COSM6923603, | large_intestine | carcinoma | p.A207S | Substitution - Missense | 4:54698565-54698565, | PATHOGENIC | 0.96858 | 28481359 |
| KIT | 6342 | COSM6191545, | large_intestine | carcinoma | p.K623M | Substitution - Missense | 4:54727916-54727916, | PATHOGENIC | 0.96841 | 25617745 |
| KIT | 6342 | COSM6978358, | lung | carcinoma | p.S867I | Substitution - Missense | 4:54736724-54736724, | PATHOGENIC | 0.96838 | 28481359 |
| KIT | 6342 | COSM1293, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P577S | Substitution - Missense | 4:54727497-54727497, | PATHOGENIC | 0.9683 | 16596195 |
| KIT | 6342 | COSM96883, | soft_tissue | gastrointestinal_stromal_tumour | p.P573L | Substitution - Missense | 4:54727486-54727486, | PATHOGENIC | 0.9683 | 20861712 |
| KIT | 6342 | COSM96883, | eye | malignant_melanoma | p.P573L | Substitution - Missense | 4:54727486-54727486, | PATHOGENIC | 0.9683 | 21478825 |
| KIT | 6342 | COSM33903, | soft_tissue | gastrointestinal_stromal_tumour | p.P577L | Substitution - Missense | 4:54727498-54727498, | PATHOGENIC | 0.9683 | 19562456 |
| KIT | 6342 | COSM1293, | endometrium | carcinoma | p.P577S | Substitution - Missense | 4:54727497-54727497, | PATHOGENIC | 0.9683 | 28481359 |
| KIT | 6342 | COSM1293, | skin | malignant_melanoma | p.P577S | Substitution - Missense | 4:54727497-54727497, | PATHOGENIC | 0.9683 | 22261812 |
| KIT | 6342 | COSM96883, | large_intestine | carcinoma | p.P573L | Substitution - Missense | 4:54727486-54727486, | PATHOGENIC | 0.9683 | 27756406 |
| KIT | 6342 | COSM1293, | large_intestine | carcinoma | p.P577S | Substitution - Missense | 4:54727497-54727497, | PATHOGENIC | 0.9683 | 27756406 |
| KIT | 6342 | COSM1293, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P577S | Substitution - Missense | 4:54727497-54727497, | PATHOGENIC | 0.9683 | 11896204 |
| KIT | 6342 | COSM96883, | eye | malignant_melanoma | p.P573L | Substitution - Missense | 4:54727486-54727486, | PATHOGENIC | 0.9683 | 21478825 |
| KIT | 6342 | COSM96883, | skin | malignant_melanoma | p.P573L | Substitution - Missense | 4:54727486-54727486, | PATHOGENIC | 0.9683 | 21680547 |
| KIT | 6342 | COSM28588, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R830* | Substitution - Nonsense | 4:54736501-54736501, | PATHOGENIC | 0.96825 | 17710669 |
| KIT | 6342 | COSM28588, | endometrium | carcinoma | p.R830* | Substitution - Nonsense | 4:54736501-54736501, | PATHOGENIC | 0.96825 | 28481359 |
| KIT | 6342 | COSM28588, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R830* | Substitution - Nonsense | 4:54736501-54736501, | PATHOGENIC | 0.96825 | 17710669 |
| KIT | 6342 | COSM235681, | skin | malignant_melanoma | p.T574A | Substitution - Missense | 4:54727488-54727488, | PATHOGENIC | 0.96738 | 21569090 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21160808 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21160808 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 16908931 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 16908931 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 25363280 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 22513068 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 15897563 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21326036 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 23014346 |
| KIT | 6342 | COSM1304, | NS | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 25148578 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 28481359 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 19225718 |
| KIT | 6342 | COSM1304, | thymus | thymic_carcinoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 24855380 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21325067 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 22399613 |
| KIT | 6342 | COSM1304, | NS | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 25148578 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 18066592 |
| KIT | 6342 | COSM1304, | NS | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 25148578 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 28481359 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 28481359 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 19225718 |
| KIT | 6342 | COSM6437973, | large_intestine | carcinoma | p.N649S | Substitution - Missense | 4:54728077-54728077, | PATHOGENIC | 0.96696 | 27756406 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 19383335 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 19383335 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 28481359 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21325067 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 28481359 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 15010069 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21495997 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 28481359 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21325067 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 22513068 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 10702394 |
| KIT | 6342 | COSM1304, | breast | carcinoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 22538770 |
| KIT | 6342 | COSM1304, | NS | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 25148578 |
| KIT | 6342 | COSM144512, | skin | malignant_melanoma | p.E635G | Substitution - Missense | 4:54728035-54728035, | PATHOGENIC | 0.96696 | 22261812 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 20545949 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 20043176 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 23014346 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 23014346 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 16908931 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21325067 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 20861712 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21495997 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 26399561 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 16908931 |
| KIT | 6342 | COSM1304, | NS | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 25148578 |
| KIT | 6342 | COSM1304, | NS | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 25148578 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 21325067 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 18066592 |
| KIT | 6342 | COSM1304, | skin | malignant_melanoma | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 23993026 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 12542597 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 10702394 |
| KIT | 6342 | COSM1304, | soft_tissue | gastrointestinal_stromal_tumour | p.K642E | Substitution - Missense | 4:54728055-54728055, | PATHOGENIC | 0.96696 | 11850541 |
| KIT | 6342 | COSM133765, | skin | malignant_melanoma | p.E633G | Substitution - Missense | 4:54728029-54728029, | PATHOGENIC | 0.96694 | 21325067 |
| KIT | 6342 | COSM4383739, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.C233Y | Substitution - Missense | 4:54699708-54699708, | PATHOGENIC | 0.96689 | 24030381 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 19384074 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21495997 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 17372901 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22068222 |
| KIT | 6342 | COSM1219, | genital_tract | germ_cell_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 15982331 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 12960119 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1219, | skin | malignant_melanoma | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 22261812 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21680547 |
| KIT | 6342 | COSM1219, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 11927008 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 26399561 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1219, | genital_tract | germ_cell_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 26956871 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23993026 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 11005505 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21680547 |
| KIT | 6342 | COSM1255, | skin | malignant_melanoma | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 19096980 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 19096980 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 19996579 |
| KIT | 6342 | COSM1290, | testis | germ_cell_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 16188233 |
| KIT | 6342 | COSM1219, | testis | germ_cell_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 12824871 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 24908143 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23851445 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22536370 |
| KIT | 6342 | COSM1290, | testis | germ_cell_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 11005505 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 10665649 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | genital_tract | germ_cell_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 26956871 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22068222 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 15948115 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28421416 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 17372901 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 20861712 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 19671763 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1219, | skin | malignant_melanoma | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 20861712 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1255, | skin | malignant_melanoma | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22399613 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23993026 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 19671763 |
| KIT | 6342 | COSM6008995, | skin | malignant_melanoma | p.L589P | Substitution - Missense | 4:54727534-54727534, | PATHOGENIC | 0.96643 | 27914687 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21569090 |
| KIT | 6342 | COSM1219, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 11927008 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 15750270 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 15705916 |
| KIT | 6342 | COSM1297, | soft_tissue | gastrointestinal_stromal_tumour | p.F584S | Substitution - Missense | 4:54727519-54727519, | PATHOGENIC | 0.96643 | 10665649 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 19319568 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 11688571 |
| KIT | 6342 | COSM1290, | testis | germ_cell_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 16741525 |
| KIT | 6342 | COSM1255, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 15643509 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 21326036 |
| KIT | 6342 | COSM1290, | upper_aerodigestive_tract | carcinoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28581676 |
| KIT | 6342 | COSM1219, | skin | malignant_melanoma | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 21680547 |
| KIT | 6342 | COSM1255, | skin | malignant_melanoma | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 19047099 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21069551 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23993026 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23860532 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 20180082 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21495997 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21326036 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 19652585 |
| KIT | 6342 | COSM1290, | thymus | thymic_carcinoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 27844328 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22261812 |
| KIT | 6342 | COSM1219, | genital_tract | germ_cell_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 24896186 |
| KIT | 6342 | COSM1290, | breast | carcinoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22538770 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 12960119 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 22399613 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21286759 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23664541 |
| KIT | 6342 | COSM1255, | skin | malignant_melanoma | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 19812602 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 12727838 |
| KIT | 6342 | COSM1255, | skin | malignant_melanoma | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 22068222 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 21326036 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21326036 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22261812 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22536370 |
| KIT | 6342 | COSM1297, | soft_tissue | gastrointestinal_stromal_tumour | p.F584S | Substitution - Missense | 4:54727519-54727519, | PATHOGENIC | 0.96643 | 11376557 |
| KIT | 6342 | COSM1219, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 11927008 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28421416 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 21326036 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23014346 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1290, | thymus | thymic_carcinoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 18448188 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21680547 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 11850541 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22536370 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23014346 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 16647948 |
| KIT | 6342 | COSM1290, | thymus | thymic_carcinoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22357254 |
| KIT | 6342 | COSM1290, | soft_tissue | inflammatory_myofibroblastic_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25120743 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 11719439 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23993026 |
| KIT | 6342 | COSM1290, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 27276561 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22513068 |
| KIT | 6342 | COSM1290, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 16596195 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 20861712 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22536370 |
| KIT | 6342 | COSM1255, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 10485475 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | thymus | thymic_carcinoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 27844328 |
| KIT | 6342 | COSM1290, | soft_tissue | liposarcoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 27237367 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1219, | NS | malignant_melanoma | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 11688571 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 12960119 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 27914687 |
| KIT | 6342 | COSM1290, | breast | carcinoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22538770 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 19411681 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22351689 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 20601955 |
| KIT | 6342 | COSM1290, | NS | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 25148578 |
| KIT | 6342 | COSM1255, | skin | malignant_melanoma | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 21569090 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22154054 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 15948115 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22791410 |
| KIT | 6342 | COSM1290, | genital_tract | germ_cell_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 24452629 |
| KIT | 6342 | COSM1219, | testis | germ_cell_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 20861712 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21569090 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 20133985 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 19671763 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 11688571 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1290, | upper_aerodigestive_tract | carcinoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28581676 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 9916918 |
| KIT | 6342 | COSM1219, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 18408593 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21680547 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22261812 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 17372901 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21325067 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 21680547 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28356599 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23014346 |
| KIT | 6342 | COSM1255, | skin | malignant_melanoma | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 20425130 |
| KIT | 6342 | COSM1219, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 26438511 |
| KIT | 6342 | COSM1255, | thymus | thymic_carcinoma | p.V559A | Substitution - Missense | 4:54727444-54727444, | PATHOGENIC | 0.96643 | 22357254 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23860532 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 9916918 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 18779314 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 23993026 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28356599 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22154054 |
| KIT | 6342 | COSM1290, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 22207557 |
| KIT | 6342 | COSM1290, | skin | malignant_melanoma | p.L576P | Substitution - Missense | 4:54727495-54727495, | PATHOGENIC | 0.96643 | 28481359 |
| KIT | 6342 | COSM1219, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.W557R | Substitution - Missense | 4:54727437-54727437, | PATHOGENIC | 0.96643 | 11927008 |
| KIT | 6342 | COSM36302, | soft_tissue | gastrointestinal_stromal_tumour | p.V560A | Substitution - Missense | 4:54727447-54727447, | PATHOGENIC | 0.96638 | 19411681 |
| KIT | 6342 | COSM6969985, | lung | carcinoma | p.D579Y | Substitution - Missense | 4:54727503-54727503, | PATHOGENIC | 0.96627 | 28481359 |
| KIT | 6342 | COSM1651756, | soft_tissue | liposarcoma | p.K778N | Substitution - Missense | 4:54731971-54731971, | PATHOGENIC | 0.96621 | 20601955 |
| KIT | 6342 | COSM6959410, | central_nervous_system | glioma | p.G286E | Substitution - Missense | 4:54703824-54703824, | PATHOGENIC | 0.96565 | 28481359 |
| KIT | 6342 | COSM96888, | skin | adnexal_tumour | p.D572N | Substitution - Missense | 4:54727482-54727482, | PATHOGENIC | 0.96522 | 27311873 |
| KIT | 6342 | COSM96888, | skin | adnexal_tumour | p.D572N | Substitution - Missense | 4:54727482-54727482, | PATHOGENIC | 0.96522 | 27311873 |
| KIT | 6342 | COSM96888, | soft_tissue | gastrointestinal_stromal_tumour | p.D572N | Substitution - Missense | 4:54727482-54727482, | PATHOGENIC | 0.96522 | 20861712 |
| KIT | 6342 | COSM96888, | skin | adnexal_tumour | p.D572N | Substitution - Missense | 4:54727482-54727482, | PATHOGENIC | 0.96522 | 27311873 |
| KIT | 6342 | COSM96888, | eye | malignant_melanoma | p.D572N | Substitution - Missense | 4:54727482-54727482, | PATHOGENIC | 0.96522 | 21478825 |
| KIT | 6342 | COSM282271, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G487D | Substitution - Missense | 4:54725970-54725970, | PATHOGENIC | 0.96516 | 27276561 |
| KIT | 6342 | COSM5550274, | pancreas | carcinoid-endocrine_tumour | p.A621T | Substitution - Missense | 4:54727909-54727909, | PATHOGENIC | 0.96513 | 27994516 |
| KIT | 6342 | COSM133757, | skin | malignant_melanoma | p.A829V | Substitution - Missense | 4:54736499-54736499, | PATHOGENIC | 0.96432 | 21325067 |
| KIT | 6342 | COSM5762890, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.T661N | Substitution - Missense | 4:54728113-54728113, | PATHOGENIC | 0.96369 | 27127180 |
| KIT | 6342 | COSM6909371, | lung | carcinoma | p.G226W | Substitution - Missense | 4:54699686-54699686, | PATHOGENIC | 0.96357 | 28481359 |
| KIT | 6342 | COSM19028, | lung | carcinoma | p.N495I | Substitution - Missense | 4:54725994-54725994, | PATHOGENIC | 0.96331 | 15217946 |
| KIT | 6342 | COSM19028, | lung | carcinoma | p.N495I | Substitution - Missense | 4:54725994-54725994, | PATHOGENIC | 0.96331 | 15217946 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 10811105 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11896204 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11927008 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 10811105 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 16596195 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11927008 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11927008 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 10811105 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11927008 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 16291592 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 10811105 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 10811105 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11927008 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11927008 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11927008 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 11927008 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 10811105 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 10811105 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM1323, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V825A | Substitution - Missense | 4:54733182-54733182, | PATHOGENIC | 0.96307 | 15643509 |
| KIT | 6342 | COSM6437980, | large_intestine | carcinoma | p.P585S | Substitution - Missense | 4:54727521-54727521, | PATHOGENIC | 0.96139 | 27756406 |
| KIT | 6342 | COSM133781, | skin | malignant_melanoma | p.E849* | Substitution - Nonsense | 4:54736558-54736558, | PATHOGENIC | 0.96124 | 21325067 |
| KIT | 6342 | COSM6974968, | lung | carcinoma | p.Q919E | Substitution - Missense | 4:54737233-54737233, | PATHOGENIC | 0.96078 | 28481359 |
| KIT | 6342 | COSM33974, | salivary_gland | carcinoma | p.F584L | Substitution - Missense | 4:54727518-54727518, | PATHOGENIC | 0.96062 | 19617878 |
| KIT | 6342 | COSM33974, | breast | carcinoma | p.F584L | Substitution - Missense | 4:54727518-54727518, | PATHOGENIC | 0.96062 | 22729910 |
| KIT | 6342 | COSM6930003, | large_intestine | carcinoid-endocrine_tumour | p.W66* | Substitution - Nonsense | 4:54695642-54695642, | PATHOGENIC | 0.96045 | 28481359 |
| KIT | 6342 | COSM19285, | soft_tissue | gastrointestinal_stromal_tumour | p.D816E | Substitution - Missense | 4:54733156-54733156, | PATHOGENIC | 0.9603 | 15811621 |
| KIT | 6342 | COSM19285, | testis | germ_cell_tumour | p.D816E | Substitution - Missense | 4:54733156-54733156, | PATHOGENIC | 0.9603 | 16741525 |
| KIT | 6342 | COSM1272089, | breast | carcinoma | p.D723A | Substitution - Missense | 4:54731354-54731354, | PATHOGENIC | 0.96019 | 23582602 |
| KIT | 6342 | COSM4383746, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S931I | Substitution - Missense | 4:54737270-54737270, | PATHOGENIC | 0.95974 | 24030381 |
| KIT | 6342 | COSM6503445, | skin | malignant_melanoma | p.Y553S | Substitution - Missense | 4:54727426-54727426, | PATHOGENIC | 0.95812 | 28356599 |
| KIT | 6342 | COSM1165, | soft_tissue | gastrointestinal_stromal_tumour | p.K550I | Substitution - Missense | 4:54727417-54727417, | PATHOGENIC | 0.95735 | 9438854 |
| KIT | 6342 | COSM5749965, | genital_tract | germ_cell_tumour | p.D816E | Substitution - Missense | 4:54733156-54733156, | PATHOGENIC | 0.95727 | 26956871 |
| KIT | 6342 | COSM6191542, | central_nervous_system | glioma | p.Q427* | Substitution - Nonsense | 4:54723631-54723631, | PATHOGENIC | 0.95663 | 28481359 |
| KIT | 6342 | COSM6191542, | large_intestine | carcinoma | p.Q427* | Substitution - Nonsense | 4:54723631-54723631, | PATHOGENIC | 0.95663 | 25617745 |
| KIT | 6342 | COSM4413463, | genital_tract | germ_cell_tumour | p.Y553C | Substitution - Missense | 4:54727426-54727426, | PATHOGENIC | 0.95642 | 26956871 |
| KIT | 6342 | COSM5609251, | skin | malignant_melanoma | p.P157L | Substitution - Missense | 4:54698416-54698416, | PATHOGENIC | 0.95627 | 26343386 |
| KIT | 6342 | COSM19280, | penis | carcinoma | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95622 | 28481359 |
| KIT | 6342 | COSM19280, | soft_tissue | gastrointestinal_stromal_tumour | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95622 | 15811621 |
| KIT | 6342 | COSM19280, | soft_tissue | gastrointestinal_stromal_tumour | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95622 | 28481359 |
| KIT | 6342 | COSM1155, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V530I | Substitution - Missense | 4:54727265-54727265, | PATHOGENIC | 0.95612 | 27534895 |
| KIT | 6342 | COSM4383742, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A659V | Substitution - Missense | 4:54728107-54728107, | PATHOGENIC | 0.95539 | 24030381 |
| KIT | 6342 | COSM22227, | genital_tract | germ_cell_tumour | p.A636V | Substitution - Missense | 4:54728038-54728038, | PATHOGENIC | 0.95539 | 16572634 |
| KIT | 6342 | COSM5609248, | skin | malignant_melanoma | p.D974N | Substitution - Missense | 4:54738546-54738546, | PATHOGENIC | 0.95454 | 26343386 |
| KIT | 6342 | COSM19323, | soft_tissue | gastrointestinal_stromal_tumour | p.P627L | Substitution - Missense | 4:54728011-54728011, | PATHOGENIC | 0.95448 | 15897742 |
| KIT | 6342 | COSM19323, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P627L | Substitution - Missense | 4:54728011-54728011, | PATHOGENIC | 0.95448 | 24030381 |
| KIT | 6342 | COSM17946, | soft_tissue | gastrointestinal_stromal_tumour | p.E562K | Substitution - Missense | 4:54727452-54727452, | PATHOGENIC | 0.95447 | 20861712 |
| KIT | 6342 | COSM17946, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E562K | Substitution - Missense | 4:54727452-54727452, | PATHOGENIC | 0.95447 | 15643509 |
| KIT | 6342 | COSM17946, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E562K | Substitution - Missense | 4:54727452-54727452, | PATHOGENIC | 0.95447 | 16596195 |
| KIT | 6342 | COSM17946, | skin | malignant_melanoma | p.E562K | Substitution - Missense | 4:54727452-54727452, | PATHOGENIC | 0.95447 | 27914687 |
| KIT | 6342 | COSM12709, | thymus | thymic_carcinoma | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95446 | 22357254 |
| KIT | 6342 | COSM12709, | soft_tissue | gastrointestinal_stromal_tumour | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95446 | 25886408 |
| KIT | 6342 | COSM12709, | soft_tissue | gastrointestinal_stromal_tumour | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95446 | 15685537 |
| KIT | 6342 | COSM12709, | soft_tissue | gastrointestinal_stromal_tumour | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95446 | 25886408 |
| KIT | 6342 | COSM12709, | thymus | thymic_carcinoma | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95446 | 19461405 |
| KIT | 6342 | COSM12709, | soft_tissue | gastrointestinal_stromal_tumour | p.D820E | Substitution - Missense | 4:54733168-54733168, | PATHOGENIC | 0.95446 | 25886408 |
| KIT | 6342 | COSM41628, | soft_tissue | gastrointestinal_stromal_tumour | p.Y570D | Substitution - Missense | 4:54727476-54727476, | PATHOGENIC | 0.95431 | 20079191 |
| KIT | 6342 | COSM5945009, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A837T | Substitution - Missense | 4:54736522-54736522, | PATHOGENIC | 0.95333 | 27276561 |
| KIT | 6342 | COSM5878908, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419A | Substitution - Missense | 4:54723608-54723608, | PATHOGENIC | 0.95305 | 27288520 |
| KIT | 6342 | COSM4383744, | penis | carcinoma | p.E761K | Substitution - Missense | 4:54731918-54731918, | PATHOGENIC | 0.95298 | 28481359 |
| KIT | 6342 | COSM4383744, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E761K | Substitution - Missense | 4:54731918-54731918, | PATHOGENIC | 0.95298 | 24030381 |
| KIT | 6342 | COSM25064, | salivary_gland | carcinoma | p.V643A | Substitution - Missense | 4:54728059-54728059, | PATHOGENIC | 0.95256 | 19617878 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 22993368 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 19383335 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 18488000 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 28481359 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 19096980 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 28481359 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 18488000 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 18488000 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 28481359 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15342366 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15342366 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15342366 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 28481359 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15685537 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 28481359 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 24908143 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15685537 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15811621 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 28481359 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 22173243 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15342366 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15342366 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15342366 |
| KIT | 6342 | COSM25065, | soft_tissue | gastrointestinal_stromal_tumour | p.L647P | Substitution - Missense | 4:54728071-54728071, | PATHOGENIC | 0.95256 | 16685437 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25886408 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15685537 |
| KIT | 6342 | COSM25064, | soft_tissue | gastrointestinal_stromal_tumour | p.V643A | Substitution - Missense | 4:54728059-54728059, | PATHOGENIC | 0.95256 | 16685437 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 15685537 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 28481359 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 28481359 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 22993368 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 20601955 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 25182956 |
| KIT | 6342 | COSM12706, | soft_tissue | gastrointestinal_stromal_tumour | p.V654A | Substitution - Missense | 4:54728092-54728092, | PATHOGENIC | 0.95256 | 16786129 |
| KIT | 6342 | COSM19326, | soft_tissue | gastrointestinal_stromal_tumour | p.I653T | Substitution - Missense | 4:54728089-54728089, | PATHOGENIC | 0.95252 | 15897742 |
| KIT | 6342 | COSM6497254, | skin | malignant_melanoma | p.E605K | Substitution - Missense | 4:54727861-54727861, | PATHOGENIC | 0.95165 | 28481359 |
| KIT | 6342 | COSM1430176, | large_intestine | carcinoma | p.A784T | Substitution - Missense | 4:54731987-54731987, | PATHOGENIC | 0.95151 | 25617745 |
| KIT | 6342 | COSM6437983, | large_intestine | carcinoma | p.R686C | Substitution - Missense | 4:54729400-54729400, | PATHOGENIC | 0.95136 | 27756406 |
| KIT | 6342 | COSM6437983, | large_intestine | carcinoma | p.R686C | Substitution - Missense | 4:54729400-54729400, | PATHOGENIC | 0.95136 | 27756406 |
| KIT | 6342 | COSM6437989, | large_intestine | carcinoma | p.C674* | Substitution - Nonsense | 4:54729366-54729366, | PATHOGENIC | 0.95118 | 27756406 |
| KIT | 6342 | COSM6959839, | urinary_tract | carcinoma | p.P434Q | Substitution - Missense | 4:54723653-54723653, | PATHOGENIC | 0.95111 | 28481359 |
| KIT | 6342 | COSM6922422, | lung | carcinoma | p.G872R | Substitution - Missense | 4:54736738-54736738, | PATHOGENIC | 0.95088 | 28481359 |
| KIT | 6342 | COSM1166, | soft_tissue | gastrointestinal_stromal_tumour | p.K550R | Substitution - Missense | 4:54727417-54727417, | PATHOGENIC | 0.95038 | 12759497 |
| KIT | 6342 | COSM5878912, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L421F | Substitution - Missense | 4:54723613-54723613, | PATHOGENIC | 0.95037 | 27288520 |
| KIT | 6342 | COSM24638, | bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | p.V489A | Substitution - Missense | 4:54725976-54725976, | PATHOGENIC | 0.94997 | 17298867 |
| KIT | 6342 | COSM133756, | skin | malignant_melanoma | p.F848L | Substitution - Missense | 4:54736555-54736555, | PATHOGENIC | 0.94956 | 21325067 |
| KIT | 6342 | COSM29015, | skin | malignant_melanoma | p.K558R | Substitution - Missense | 4:54727441-54727441, | PATHOGENIC | 0.94833 | 21569090 |
| KIT | 6342 | COSM29015, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K558R | Substitution - Missense | 4:54727441-54727441, | PATHOGENIC | 0.94833 | 24522528 |
| KIT | 6342 | COSM29015, | soft_tissue | gastrointestinal_stromal_tumour | p.K558R | Substitution - Missense | 4:54727441-54727441, | PATHOGENIC | 0.94833 | 18547614 |
| KIT | 6342 | COSM29015, | skin | malignant_melanoma | p.K558R | Substitution - Missense | 4:54727441-54727441, | PATHOGENIC | 0.94833 | 22068222 |
| KIT | 6342 | COSM96879, | soft_tissue | gastrointestinal_stromal_tumour | p.S692L | Substitution - Missense | 4:54729419-54729419, | PATHOGENIC | 0.94825 | 20861712 |
| KIT | 6342 | COSM96879, | large_intestine | carcinoma | p.S692L | Substitution - Missense | 4:54729419-54729419, | PATHOGENIC | 0.94825 | 27756406 |
| KIT | 6342 | COSM6940862, | lung | carcinoma | p.P434T | Substitution - Missense | 4:54723652-54723652, | PATHOGENIC | 0.94689 | 28481359 |
| KIT | 6342 | COSM6940862, | large_intestine | carcinoma | p.P434T | Substitution - Missense | 4:54723652-54723652, | PATHOGENIC | 0.94689 | 28481359 |
| KIT | 6342 | COSM6951780, | central_nervous_system | glioma | p.S279L | Substitution - Missense | 4:54703803-54703803, | PATHOGENIC | 0.94609 | 28481359 |
| KIT | 6342 | COSM6910577, | lung | carcinoma | p.L641I | Substitution - Missense | 4:54728052-54728052, | PATHOGENIC | 0.94602 | 28481359 |
| KIT | 6342 | COSM33966, | NS | malignant_melanoma | p.L576F | Substitution - Missense | 4:54727494-54727494, | PATHOGENIC | 0.94598 | 21325067 |
| KIT | 6342 | COSM33966, | breast | carcinoma | p.L576F | Substitution - Missense | 4:54727494-54727494, | PATHOGENIC | 0.94598 | 22729910 |
| KIT | 6342 | COSM33966, | thyroid | carcinoma | p.L576F | Substitution - Missense | 4:54727494-54727494, | PATHOGENIC | 0.94598 | 26971368 |
| KIT | 6342 | COSM33966, | skin | malignant_melanoma | p.L576F | Substitution - Missense | 4:54727494-54727494, | PATHOGENIC | 0.94598 | 21325067 |
| KIT | 6342 | COSM33966, | salivary_gland | carcinoma | p.L576F | Substitution - Missense | 4:54727494-54727494, | PATHOGENIC | 0.94598 | 19617878 |
| KIT | 6342 | COSM6980630, | large_intestine | carcinoma | p.K704N | Substitution - Missense | 4:54729456-54729456, | PATHOGENIC | 0.94578 | 28481359 |
| KIT | 6342 | COSM6959409, | central_nervous_system | glioma | p.P27L | Substitution - Missense | 4:54695524-54695524, | PATHOGENIC | 0.94471 | 28481359 |
| KIT | 6342 | COSM28037, | skin | malignant_melanoma | p.V569G | Substitution - Missense | 4:54727474-54727474, | PATHOGENIC | 0.94428 | 18066592 |
| KIT | 6342 | COSM1651647, | skin | malignant_melanoma | p.G487S | Substitution - Missense | 4:54725969-54725969, | PATHOGENIC | 0.94394 | 23014346 |
| KIT | 6342 | COSM4383745, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K807N | Substitution - Missense | 4:54733129-54733129, | PATHOGENIC | 0.94393 | 24030381 |
| KIT | 6342 | COSM1251, | endometrium | carcinoma | p.V559I | Substitution - Missense | 4:54727443-54727443, | PATHOGENIC | 0.94214 | 23199529 |
| KIT | 6342 | COSM1251, | skin | adnexal_tumour | p.V559I | Substitution - Missense | 4:54727443-54727443, | PATHOGENIC | 0.94214 | 27311873 |
| KIT | 6342 | COSM1251, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V559I | Substitution - Missense | 4:54727443-54727443, | PATHOGENIC | 0.94214 | 11896204 |
| KIT | 6342 | COSM1251, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V559I | Substitution - Missense | 4:54727443-54727443, | PATHOGENIC | 0.94214 | 10811105 |
| KIT | 6342 | COSM1251, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V559I | Substitution - Missense | 4:54727443-54727443, | PATHOGENIC | 0.94214 | 17259998 |
| KIT | 6342 | COSM1251, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.V559I | Substitution - Missense | 4:54727443-54727443, | PATHOGENIC | 0.94214 | 11927008 |
| KIT | 6342 | COSM5878907, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419H | Substitution - Missense | 4:54723607-54723607, | PATHOGENIC | 0.94193 | 27288520 |
| KIT | 6342 | COSM5609256, | skin | malignant_melanoma | p.V569D | Substitution - Missense | 4:54727474-54727474, | PATHOGENIC | 0.94125 | 26343386 |
| KIT | 6342 | COSM5352270, | soft_tissue | gastrointestinal_stromal_tumour | p.N680K | Substitution - Missense | 4:54729384-54729384, | PATHOGENIC | 0.9411 | 25886408 |
| KIT | 6342 | COSM1430124, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419G | Substitution - Missense | 4:54723608-54723608, | PATHOGENIC | 0.94038 | 27288520 |
| KIT | 6342 | COSM1430124, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419G | Substitution - Missense | 4:54723608-54723608, | PATHOGENIC | 0.94038 | 27288520 |
| KIT | 6342 | COSM33972, | salivary_gland | carcinoma | p.S639P | Substitution - Missense | 4:54728046-54728046, | PATHOGENIC | 0.94022 | 19617878 |
| KIT | 6342 | COSM33972, | breast | carcinoma | p.S639P | Substitution - Missense | 4:54728046-54728046, | PATHOGENIC | 0.94022 | 22729910 |
| KIT | 6342 | COSM33972, | skin | malignant_melanoma | p.S639P | Substitution - Missense | 4:54728046-54728046, | PATHOGENIC | 0.94022 | 23014346 |
| KIT | 6342 | COSM1651650, | skin | malignant_melanoma | p.H630Y | Substitution - Missense | 4:54728019-54728019, | PATHOGENIC | 0.94004 | 23014346 |
| KIT | 6342 | COSM24750, | soft_tissue | gastrointestinal_stromal_tumour | p.N567H | Substitution - Missense | 4:54727467-54727467, | PATHOGENIC | 0.93949 | 16297706 |
| KIT | 6342 | COSM133773, | NS | malignant_melanoma | p.S645N | Substitution - Missense | 4:54728065-54728065, | PATHOGENIC | 0.93928 | 21325067 |
| KIT | 6342 | COSM6437976, | large_intestine | carcinoma | p.N843I | Substitution - Missense | 4:54736541-54736541, | PATHOGENIC | 0.93927 | 27756406 |
| KIT | 6342 | COSM6969056, | central_nervous_system | glioma | p.P524S | Substitution - Missense | 4:54727247-54727247, | PATHOGENIC | 0.9391 | 28481359 |
| KIT | 6342 | COSM5609252, | skin | malignant_melanoma | p.P874L | Substitution - Missense | 4:54736745-54736745, | PATHOGENIC | 0.93908 | 26343386 |
| KIT | 6342 | COSM3301432, | large_intestine | carcinoma | p.G265S | Substitution - Missense | 4:54703760-54703760, | PATHOGENIC | 0.93835 | 28481359 |
| KIT | 6342 | COSM6911216, | endometrium | carcinoma | p.Q556L | Substitution - Missense | 4:54727435-54727435, | PATHOGENIC | 0.93808 | 28481359 |
| KIT | 6342 | COSM36053, | thymus | thymic_carcinoma | p.H697Y | Substitution - Missense | 4:54729433-54729433, | PATHOGENIC | 0.93716 | 19861435 |
| KIT | 6342 | COSM36053, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.H697Y | Substitution - Missense | 4:54729433-54729433, | PATHOGENIC | 0.93716 | 24030381 |
| KIT | 6342 | COSM6437986, | large_intestine | carcinoma | p.S688L | Substitution - Missense | 4:54729407-54729407, | PATHOGENIC | 0.93606 | 27756406 |
| KIT | 6342 | COSM6949824, | urinary_tract | carcinoma | p.M873I | Substitution - Missense | 4:54736743-54736743, | PATHOGENIC | 0.93546 | 28481359 |
| KIT | 6342 | COSM5702513, | skin | malignant_melanoma | p.S628N | Substitution - Missense | 4:54728014-54728014, | PATHOGENIC | 0.93461 | 25317746 |
| KIT | 6342 | COSM5702513, | skin | malignant_melanoma | p.S628N | Substitution - Missense | 4:54728014-54728014, | PATHOGENIC | 0.93461 | 25317746 |
| KIT | 6342 | COSM6986297, | soft_tissue | gastrointestinal_stromal_tumour | p.N680K | Substitution - Missense | 4:54729384-54729384, | PATHOGENIC | 0.93358 | 28481359 |
| KIT | 6342 | COSM6904316, | breast | carcinoma | p.H517Y | Substitution - Missense | 4:54727226-54727226, | PATHOGENIC | 0.93316 | 27925203 |
| KIT | 6342 | COSM144154, | eye | malignant_melanoma | p.V569I | Substitution - Missense | 4:54727473-54727473, | PATHOGENIC | 0.93206 | 21478825 |
| KIT | 6342 | COSM144154, | skin | adnexal_tumour | p.V569I | Substitution - Missense | 4:54727473-54727473, | PATHOGENIC | 0.93206 | 27311873 |
| KIT | 6342 | COSM1275, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N566N | Substitution - coding silent | 4:54727466-54727466, | PATHOGENIC | 0.93203 | 16596195 |
| KIT | 6342 | COSM1275, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N566N | Substitution - coding silent | 4:54727466-54727466, | PATHOGENIC | 0.93203 | 11896204 |
| KIT | 6342 | COSM1275, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N566N | Substitution - coding silent | 4:54727466-54727466, | PATHOGENIC | 0.93203 | 11927008 |
| KIT | 6342 | COSM1275, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N566N | Substitution - coding silent | 4:54727466-54727466, | PATHOGENIC | 0.93203 | 11927008 |
| KIT | 6342 | COSM6957229, | urinary_tract | carcinoma | p.P206Q | Substitution - Missense | 4:54698563-54698563, | PATHOGENIC | 0.93117 | 28481359 |
| KIT | 6342 | COSM6979250, | lung | carcinoma | p.I902V | Substitution - Missense | 4:54737182-54737182, | PATHOGENIC | 0.93055 | 28481359 |
| KIT | 6342 | COSM3301443, | large_intestine | other | p.T520S | Substitution - Missense | 4:54727236-54727236, | PATHOGENIC | 0.93038 | 28524162 |
| KIT | 6342 | COSM6022992, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I805F | Substitution - Missense | 4:54733121-54733121, | PATHOGENIC | 0.92951 | 26980726 |
| KIT | 6342 | COSM6920245, | ovary | carcinoma | p.Q922H | Substitution - Missense | 4:54737244-54737244, | PATHOGENIC | 0.92942 | 28481359 |
| KIT | 6342 | COSM1651643, | skin | malignant_melanoma | p.V474I | Substitution - Missense | 4:54725930-54725930, | PATHOGENIC | 0.92899 | 23014346 |
| KIT | 6342 | COSM5878911, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R420K | Substitution - Missense | 4:54723611-54723611, | PATHOGENIC | 0.92847 | 27288520 |
| KIT | 6342 | COSM5945008, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M618I | Substitution - Missense | 4:54727902-54727902, | PATHOGENIC | 0.92798 | 27276561 |
| KIT | 6342 | COSM6943592, | breast | carcinoma | p.L679F | Substitution - Missense | 4:54729381-54729381, | PATHOGENIC | 0.92796 | 28481359 |
| KIT | 6342 | COSM17944, | soft_tissue | gastrointestinal_stromal_tumour | p.E554K | Substitution - Missense | 4:54727428-54727428, | PATHOGENIC | 0.92779 | 20861712 |
| KIT | 6342 | COSM17944, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E554K | Substitution - Missense | 4:54727428-54727428, | PATHOGENIC | 0.92779 | 15643509 |
| KIT | 6342 | COSM6191544, | large_intestine | carcinoma | p.T607A | Substitution - Missense | 4:54727867-54727867, | PATHOGENIC | 0.92713 | 25617745 |
| KIT | 6342 | COSM1302, | eye | malignant_melanoma | p.S590N | Substitution - Missense | 4:54727537-54727537, | PATHOGENIC | 0.92698 | 21478825 |
| KIT | 6342 | COSM1302, | eye | malignant_melanoma | p.S590N | Substitution - Missense | 4:54727537-54727537, | PATHOGENIC | 0.92698 | 21478825 |
| KIT | 6342 | COSM1302, | soft_tissue | gastrointestinal_stromal_tumour | p.S590N | Substitution - Missense | 4:54727537-54727537, | PATHOGENIC | 0.92698 | 11127756 |
| KIT | 6342 | COSM1287, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T574I | Substitution - Missense | 4:54727489-54727489, | PATHOGENIC | 0.92633 | 11927008 |
| KIT | 6342 | COSM6918874, | stomach | carcinoma | p.P137T | Substitution - Missense | 4:54698355-54698355, | PATHOGENIC | 0.92602 | 28481359 |
| KIT | 6342 | COSM33969, | salivary_gland | carcinoma | p.F591L | Substitution - Missense | 4:54727539-54727539, | PATHOGENIC | 0.92473 | 19617878 |
| KIT | 6342 | COSM20402, | eye | malignant_melanoma | p.R804W | Substitution - Missense | 4:54733118-54733118, | PATHOGENIC | 0.92421 | 21478825 |
| KIT | 6342 | COSM20402, | large_intestine | carcinoma | p.R804W | Substitution - Missense | 4:54733118-54733118, | PATHOGENIC | 0.92421 | Info_not_available |
| KIT | 6342 | COSM20402, | breast | carcinoma | p.R804W | Substitution - Missense | 4:54733118-54733118, | PATHOGENIC | 0.92421 | 28481359 |
| KIT | 6342 | COSM20402, | large_intestine | carcinoma | p.R804W | Substitution - Missense | 4:54733118-54733118, | PATHOGENIC | 0.92421 | Info_not_available |
| KIT | 6342 | COSM6984727, | lung | carcinoma | p.L138I | Substitution - Missense | 4:54698358-54698358, | PATHOGENIC | 0.92341 | 28481359 |
| KIT | 6342 | COSM327108, | large_intestine | carcinoma | p.R177H | Substitution - Missense | 4:54698476-54698476, | PATHOGENIC | 0.92276 | 28481359 |
| KIT | 6342 | COSM327108, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R177H | Substitution - Missense | 4:54698476-54698476, | PATHOGENIC | 0.92276 | 22675565 |
| KIT | 6342 | COSM327108, | skin | carcinoma | p.R177H | Substitution - Missense | 4:54698476-54698476, | PATHOGENIC | 0.92276 | 28481359 |
| KIT | 6342 | COSM1284, | soft_tissue | gastrointestinal_stromal_tumour | p.V569A | Substitution - Missense | 4:54727474-54727474, | PATHOGENIC | 0.92257 | 12717247 |
| KIT | 6342 | COSM1284, | skin | malignant_melanoma | p.V569A | Substitution - Missense | 4:54727474-54727474, | PATHOGENIC | 0.92257 | 26744134 |
| KIT | 6342 | COSM133774, | skin | malignant_melanoma | p.I563V | Substitution - Missense | 4:54727455-54727455, | PATHOGENIC | 0.92147 | 21325067 |
| KIT | 6342 | COSM133687, | soft_tissue | gastrointestinal_stromal_tumour | p.D458N | Substitution - Missense | 4:54725882-54725882, | PATHOGENIC | 0.92137 | 21326036 |
| KIT | 6342 | COSM51381, | breast | carcinoma | p.R796G | Substitution - Missense | 4:54733094-54733094, | PATHOGENIC | 0.91998 | 23582602 |
| KIT | 6342 | COSM51381, | salivary_gland | carcinoma | p.R796G | Substitution - Missense | 4:54733094-54733094, | PATHOGENIC | 0.91998 | 20824047 |
| KIT | 6342 | COSM51381, | breast | carcinoma | p.R796G | Substitution - Missense | 4:54733094-54733094, | PATHOGENIC | 0.91998 | 22729910 |
| KIT | 6342 | COSM6005553, | prostate | carcinoma | p.I935I | Substitution - coding silent | 4:54738431-54738431, | PATHOGENIC | 0.91936 | 20579941 |
| KIT | 6342 | COSM5890030, | lung | carcinoma | p.G153E | Substitution - Missense | 4:54698404-54698404, | PATHOGENIC | 0.91887 | 28481359 |
| KIT | 6342 | COSM133766, | skin | malignant_melanoma | p.Q556R | Substitution - Missense | 4:54727435-54727435, | PATHOGENIC | 0.91818 | 21325067 |
| KIT | 6342 | COSM226107, | large_intestine | carcinoma | p.A895T | Substitution - Missense | 4:54736807-54736807, | PATHOGENIC | 0.91783 | 28481359 |
| KIT | 6342 | COSM1272082, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L421H | Substitution - Missense | 4:54723614-54723614, | PATHOGENIC | 0.91679 | 22825855 |
| KIT | 6342 | COSM1272082, | breast | carcinoma | p.L421H | Substitution - Missense | 4:54723614-54723614, | PATHOGENIC | 0.91679 | 23582602 |
| KIT | 6342 | COSM6967133, | lung | carcinoma | p.N370I | Substitution - Missense | 4:54707281-54707281, | PATHOGENIC | 0.91606 | 28481359 |
| KIT | 6342 | COSM6191540, | large_intestine | carcinoma | p.G23D | Substitution - Missense | 4:54695512-54695512, | PATHOGENIC | 0.91371 | 25617745 |
| KIT | 6342 | COSM6696049, | testis | germ_cell_tumour | p.D419N | Substitution - Missense | 4:54723607-54723607, | PATHOGENIC | 0.91315 | 28481359 |
| KIT | 6342 | COSM6696049, | penis | carcinoma | p.D419N | Substitution - Missense | 4:54723607-54723607, | PATHOGENIC | 0.91315 | 28481359 |
| KIT | 6342 | COSM250169, | pancreas | carcinoid-endocrine_tumour | p.R796* | Substitution - Nonsense | 4:54733094-54733094, | PATHOGENIC | 0.91128 | 21447618 |
| KIT | 6342 | COSM96882, | soft_tissue | gastrointestinal_stromal_tumour | p.D572D | Substitution - coding silent | 4:54727484-54727484, | PATHOGENIC | 0.91119 | 20861712 |
| KIT | 6342 | COSM6444843, | endometrium | carcinoma | p.G42* | Substitution - Nonsense | 4:54695568-54695568, | PATHOGENIC | 0.91024 | 27159395 |
| KIT | 6342 | COSM96872, | soft_tissue | gastrointestinal_stromal_tumour | p.K818K | Substitution - coding silent | 4:54733162-54733162, | PATHOGENIC | 0.90739 | 20861712 |
| KIT | 6342 | COSM5945954, | skin | malignant_melanoma | p.F469I | Substitution - Missense | 4:54725915-54725915, | PATHOGENIC | 0.90477 | 26744134 |
| KIT | 6342 | COSM6951057, | skin | adnexal_tumour | p.K613Q | Substitution - Missense | 4:54727885-54727885, | PATHOGENIC | 0.90464 | 28481359 |
| KIT | 6342 | COSM6945415, | large_intestine | carcinoma | p.T411K | Substitution - Missense | 4:54723584-54723584, | PATHOGENIC | 0.90392 | 28481359 |
| KIT | 6342 | COSM6913350, | lung | carcinoma | p.G387R | Substitution - Missense | 4:54709467-54709467, | PATHOGENIC | 0.9038 | 28481359 |
| KIT | 6342 | COSM4125151, | upper_aerodigestive_tract | carcinoma | p.E386K | Substitution - Missense | 4:54709464-54709464, | PATHOGENIC | 0.90336 | 28481359 |
| KIT | 6342 | COSM6952156, | large_intestine | carcinoma | p.E329* | Substitution - Nonsense | 4:54707157-54707157, | PATHOGENIC | 0.90198 | 28481359 |
| KIT | 6342 | COSM6437991, | large_intestine | carcinoma | p.? | Unknown | 4:54727546-54727546, | PATHOGENIC | 0.89763 | 27756406 |
| KIT | 6342 | COSM5904789, | skin | malignant_melanoma | p.S147F | Substitution - Missense | 4:54698386-54698386, | PATHOGENIC | 0.89661 | 28481359 |
| KIT | 6342 | COSM5904789, | skin | carcinoma | p.S147F | Substitution - Missense | 4:54698386-54698386, | PATHOGENIC | 0.89661 | 28481359 |
| KIT | 6342 | COSM19216, | soft_tissue | gastrointestinal_stromal_tumour | p.K558N | Substitution - Missense | 4:54727442-54727442, | PATHOGENIC | 0.89628 | 15750270 |
| KIT | 6342 | COSM19216, | soft_tissue | gastrointestinal_stromal_tumour | p.K558N | Substitution - Missense | 4:54727442-54727442, | PATHOGENIC | 0.89628 | 21326036 |
| KIT | 6342 | COSM1716923, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R586* | Substitution - Nonsense | 4:54727524-54727524, | PATHOGENIC | 0.89609 | 24072100 |
| KIT | 6342 | COSM5878910, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R420W | Substitution - Missense | 4:54723610-54723610, | PATHOGENIC | 0.89404 | 27288520 |
| KIT | 6342 | COSM6494997, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V532I | Substitution - Missense | 4:54727271-54727271, | PATHOGENIC | 0.89322 | 27534895 |
| KIT | 6342 | COSM6494997, | biliary_tract | carcinoma | p.V532I | Substitution - Missense | 4:54727271-54727271, | PATHOGENIC | 0.89322 | 29360550 |
| KIT | 6342 | COSM6437977, | large_intestine | carcinoma | p.R684* | Substitution - Nonsense | 4:54729394-54729394, | PATHOGENIC | 0.89295 | 27756406 |
| KIT | 6342 | COSM1167, | soft_tissue | gastrointestinal_stromal_tumour | p.K550N | Substitution - Missense | 4:54727418-54727418, | PATHOGENIC | 0.8924 | 12759497 |
| KIT | 6342 | COSM1195, | soft_tissue | gastrointestinal_stromal_tumour | p.E554D | Substitution - Missense | 4:54727430-54727430, | PATHOGENIC | 0.89233 | 10485475 |
| KIT | 6342 | COSM19026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K499K | Substitution - coding silent | 4:54726007-54726007, | PATHOGENIC | 0.89206 | 12580961 |
| KIT | 6342 | COSM1271, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N564K | Substitution - Missense | 4:54727460-54727460, | PATHOGENIC | 0.88872 | 11840282 |
| KIT | 6342 | COSM250098, | skin | malignant_melanoma | p.M552I | Substitution - Missense | 4:54727424-54727424, | PATHOGENIC | 0.88848 | 22068222 |
| KIT | 6342 | COSM5945005, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G265D | Substitution - Missense | 4:54703761-54703761, | PATHOGENIC | 0.88815 | 27276561 |
| KIT | 6342 | COSM133775, | skin | malignant_melanoma | p.T632I | Substitution - Missense | 4:54728026-54728026, | PATHOGENIC | 0.888 | 21325067 |
| KIT | 6342 | COSM133770, | skin | malignant_melanoma | p.L647F | Substitution - Missense | 4:54728070-54728070, | PATHOGENIC | 0.88779 | 21325067 |
| KIT | 6342 | COSM133770, | large_intestine | carcinoma | p.L647F | Substitution - Missense | 4:54728070-54728070, | PATHOGENIC | 0.88779 | 27756406 |
| KIT | 6342 | COSM6974821, | stomach | carcinoma | p.S614* | Substitution - Nonsense | 4:54727889-54727889, | PATHOGENIC | 0.88754 | 28481359 |
| KIT | 6342 | COSM24749, | soft_tissue | gastrointestinal_stromal_tumour | p.N564H | Substitution - Missense | 4:54727458-54727458, | PATHOGENIC | 0.88703 | 16297706 |
| KIT | 6342 | COSM48473, | lung | carcinoma | p.T594I | Substitution - Missense | 4:54727829-54727829, | PATHOGENIC | 0.8866 | 18948947 |
| KIT | 6342 | COSM48473, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.T594I | Substitution - Missense | 4:54727829-54727829, | PATHOGENIC | 0.8866 | 27276561 |
| KIT | 6342 | COSM6937442, | lung | carcinoma | p.Q26* | Substitution - Nonsense | 4:54695520-54695520, | PATHOGENIC | 0.88656 | 28481359 |
| KIT | 6342 | COSM5369811, | lung | carcinoma | p.K710E | Substitution - Missense | 4:54729472-54729472, | PATHOGENIC | 0.88274 | 26164066 |
| KIT | 6342 | COSM5369811, | large_intestine | carcinoma | p.K710E | Substitution - Missense | 4:54729472-54729472, | PATHOGENIC | 0.88274 | 28481359 |
| KIT | 6342 | COSM4383738, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P31S | Substitution - Missense | 4:54695535-54695535, | PATHOGENIC | 0.88103 | 24030381 |
| KIT | 6342 | COSM1056114, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R956W | Substitution - Missense | 4:54738492-54738492, | PATHOGENIC | 0.88087 | 24030381 |
| KIT | 6342 | COSM17945, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M552T | Substitution - Missense | 4:54727423-54727423, | PATHOGENIC | 0.88065 | 27276561 |
| KIT | 6342 | COSM17945, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.M552T | Substitution - Missense | 4:54727423-54727423, | PATHOGENIC | 0.88065 | 15643509 |
| KIT | 6342 | COSM6919154, | liver | carcinoma | p.R888W | Substitution - Missense | 4:54736786-54736786, | PATHOGENIC | 0.88046 | 28481359 |
| KIT | 6342 | COSM6919154, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R888W | Substitution - Missense | 4:54736786-54736786, | PATHOGENIC | 0.88046 | 28481359 |
| KIT | 6342 | COSM6919154, | large_intestine | carcinoma | p.R888W | Substitution - Missense | 4:54736786-54736786, | PATHOGENIC | 0.88046 | 28481359 |
| KIT | 6342 | COSM33968, | salivary_gland | carcinoma | p.E562V | Substitution - Missense | 4:54727453-54727453, | PATHOGENIC | 0.8786 | 19617878 |
| KIT | 6342 | COSM33968, | breast | carcinoma | p.E562V | Substitution - Missense | 4:54727453-54727453, | PATHOGENIC | 0.8786 | 22729910 |
| KIT | 6342 | COSM6947879, | lung | carcinoma | p.E490Q | Substitution - Missense | 4:54725978-54725978, | PATHOGENIC | 0.87839 | 28481359 |
| KIT | 6342 | COSM133764, | stomach | carcinoma | p.V555I | Substitution - Missense | 4:54727431-54727431, | PATHOGENIC | 0.87777 | 28481359 |
| KIT | 6342 | COSM133764, | skin | malignant_melanoma | p.V555I | Substitution - Missense | 4:54727431-54727431, | PATHOGENIC | 0.87777 | 21325067 |
| KIT | 6342 | COSM133764, | eye | malignant_melanoma | p.V555I | Substitution - Missense | 4:54727431-54727431, | PATHOGENIC | 0.87777 | 21478825 |
| KIT | 6342 | COSM51494, | soft_tissue | haemangioblastoma | p.V399I | Substitution - Missense | 4:54709503-54709503, | PATHOGENIC | 0.87771 | 25589003 |
| KIT | 6342 | COSM51494, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V399I | Substitution - Missense | 4:54709503-54709503, | PATHOGENIC | 0.87771 | 20861915 |
| KIT | 6342 | COSM1154, | soft_tissue | gastrointestinal_stromal_tumour | p.V497V | Substitution - coding silent | 4:54726001-54726001, | PATHOGENIC | 0.87651 | 11376557 |
| KIT | 6342 | COSM27910, | soft_tissue | gastrointestinal_stromal_tumour | p.F811F | Substitution - coding silent | 4:54733141-54733141, | PATHOGENIC | 0.8751 | 17566038 |
| KIT | 6342 | COSM27910, | soft_tissue | gastrointestinal_stromal_tumour | p.F811F | Substitution - coding silent | 4:54733141-54733141, | PATHOGENIC | 0.8751 | 17566038 |
| KIT | 6342 | COSM27910, | soft_tissue | gastrointestinal_stromal_tumour | p.F811F | Substitution - coding silent | 4:54733141-54733141, | PATHOGENIC | 0.8751 | 17566038 |
| KIT | 6342 | COSM27910, | soft_tissue | gastrointestinal_stromal_tumour | p.F811F | Substitution - coding silent | 4:54733141-54733141, | PATHOGENIC | 0.8751 | 17566038 |
| KIT | 6342 | COSM6950869, | lung | carcinoma | p.K484N | Substitution - Missense | 4:54725962-54725962, | PATHOGENIC | 0.87046 | 28481359 |
| KIT | 6342 | COSM4604809, | upper_aerodigestive_tract | carcinoma | p.Y774Y | Substitution - coding silent | 4:54731959-54731959, | PATHOGENIC | 0.87012 | 25056374 |
| KIT | 6342 | COSM19111, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I748T | Substitution - Missense | 4:54731880-54731880, | PATHOGENIC | 0.86815 | 15650049 |
| KIT | 6342 | COSM6913214, | large_intestine | carcinoma | p.R271C | Substitution - Missense | 4:54703778-54703778, | PATHOGENIC | 0.86741 | 28481359 |
| KIT | 6342 | COSM6926322, | central_nervous_system | glioma | p.G445E | Substitution - Missense | 4:54723686-54723686, | PATHOGENIC | 0.86673 | 28481359 |
| KIT | 6342 | COSM24637, | bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | p.F469L | Substitution - Missense | 4:54725915-54725915, | PATHOGENIC | 0.8661 | 17298867 |
| KIT | 6342 | COSM6929631, | lung | carcinoma | p.S395F | Substitution - Missense | 4:54709492-54709492, | PATHOGENIC | 0.86579 | 28481359 |
| KIT | 6342 | COSM6920734, | lung | carcinoma | p.D60N | Substitution - Missense | 4:54695622-54695622, | PATHOGENIC | 0.8639 | 28481359 |
| KIT | 6342 | COSM6191543, | large_intestine | carcinoma | p.S590G | Substitution - Missense | 4:54727536-54727536, | PATHOGENIC | 0.8611 | 25617745 |
| KIT | 6342 | COSM327599, | thymus | thymic_carcinoma | p.E490K | Substitution - Missense | 4:54725978-54725978, | PATHOGENIC | 0.85974 | 22357254 |
| KIT | 6342 | COSM3301421, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.T67S | Substitution - Missense | 4:54695644-54695644, | PATHOGENIC | 0.85857 | 26648538 |
| KIT | 6342 | COSM19027, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.E861E | Substitution - coding silent | 4:54736596-54736596, | PATHOGENIC | 0.85812 | 12580961 |
| KIT | 6342 | COSM6437971, | large_intestine | carcinoma | p.E514Q | Substitution - Missense | 4:54726050-54726050, | PATHOGENIC | 0.85756 | 27756406 |
| KIT | 6342 | COSM6986456, | testis | germ_cell_tumour | p.A617S | Substitution - Missense | 4:54727897-54727897, | PATHOGENIC | 0.85746 | 28481359 |
| KIT | 6342 | COSM19029, | lung | carcinoma | p.N567K | Substitution - Missense | 4:54727469-54727469, | PATHOGENIC | 0.85068 | 15217946 |
| KIT | 6342 | COSM19029, | lung | carcinoma | p.N567K | Substitution - Missense | 4:54727469-54727469, | PATHOGENIC | 0.85068 | 15217946 |
| KIT | 6342 | COSM19029, | lung | carcinoma | p.N567K | Substitution - Missense | 4:54727469-54727469, | PATHOGENIC | 0.85068 | 15217946 |
| KIT | 6342 | COSM7325411, | biliary_tract | carcinoma | p.T806A | Substitution - Missense | 4:54733124-54733124, | PATHOGENIC | 0.85065 | 29360550 |
| KIT | 6342 | COSM1265, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E561E | Substitution - coding silent | 4:54727451-54727451, | PATHOGENIC | 0.84984 | 11896204 |
| KIT | 6342 | COSM1265, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.E561E | Substitution - coding silent | 4:54727451-54727451, | PATHOGENIC | 0.84984 | 10811105 |
| KIT | 6342 | COSM5749219, | genital_tract | germ_cell_tumour | p.V540L | Substitution - Missense | 4:54727295-54727295, | PATHOGENIC | 0.84953 | 26956871 |
| KIT | 6342 | COSM1272084, | breast | carcinoma | p.K499Q | Substitution - Missense | 4:54726005-54726005, | PATHOGENIC | 0.84823 | 23582602 |
| KIT | 6342 | COSM133771, | skin | malignant_melanoma | p.I571M | Substitution - Missense | 4:54727481-54727481, | PATHOGENIC | 0.84756 | 21325067 |
| KIT | 6342 | COSM5945003, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.T22I | Substitution - Missense | 4:54658079-54658079, | PATHOGENIC | 0.84592 | 27276561 |
| KIT | 6342 | COSM4992124, | skin | carcinoma | p.E562D | Substitution - Missense | 4:54727454-54727454, | PATHOGENIC | 0.84576 | 25589618 |
| KIT | 6342 | COSM6953147, | urinary_tract | carcinoma | p.V134I | Substitution - Missense | 4:54698346-54698346, | PATHOGENIC | 0.8433 | 28481359 |
| KIT | 6342 | COSM133776, | skin | malignant_melanoma | p.L637F | Substitution - Missense | 4:54728040-54728040, | PATHOGENIC | 0.84192 | 21325067 |
| KIT | 6342 | COSM6965237, | prostate | carcinoma | p.Q21H | Substitution - Missense | 4:54658077-54658077, | PATHOGENIC | 0.83503 | 28481359 |
| KIT | 6342 | COSM5945007, | central_nervous_system | glioma | p.A617T | Substitution - Missense | 4:54727897-54727897, | PATHOGENIC | 0.82912 | 28481359 |
| KIT | 6342 | COSM5945007, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A617T | Substitution - Missense | 4:54727897-54727897, | PATHOGENIC | 0.82912 | 27276561 |
| KIT | 6342 | COSM235682, | skin | malignant_melanoma | p.N655K | Substitution - Missense | 4:54728096-54728096, | PATHOGENIC | 0.82893 | 21569090 |
| KIT | 6342 | COSM235682, | genital_tract | germ_cell_tumour | p.N655K | Substitution - Missense | 4:54728096-54728096, | PATHOGENIC | 0.82893 | 28481359 |
| KIT | 6342 | COSM6961852, | pancreas | carcinoid-endocrine_tumour | p.S239F | Substitution - Missense | 4:54699726-54699726, | PATHOGENIC | 0.82855 | 28481359 |
| KIT | 6342 | COSM29019, | endometrium | carcinoma | p.N587N | Substitution - coding silent | 4:54727529-54727529, | PATHOGENIC | 0.82532 | 18708242 |
| KIT | 6342 | COSM4413464, | testis | germ_cell_tumour | p.N655K | Substitution - Missense | 4:54728096-54728096, | PATHOGENIC | 0.81977 | 26956871 |
| KIT | 6342 | COSM4413464, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N655K | Substitution - Missense | 4:54728096-54728096, | PATHOGENIC | 0.81977 | 26980726 |
| KIT | 6342 | COSM4413464, | genital_tract | germ_cell_tumour | p.N655K | Substitution - Missense | 4:54728096-54728096, | PATHOGENIC | 0.81977 | 26956871 |
| KIT | 6342 | COSM4413464, | testis | germ_cell_tumour | p.N655K | Substitution - Missense | 4:54728096-54728096, | PATHOGENIC | 0.81977 | 26956871 |
| KIT | 6342 | COSM6914704, | upper_aerodigestive_tract | carcinoma | p.Q26E | Substitution - Missense | 4:54695520-54695520, | PATHOGENIC | 0.81877 | 28481359 |
| KIT | 6342 | COSM33967, | salivary_gland | carcinoma | p.H580Y | Substitution - Missense | 4:54727506-54727506, | PATHOGENIC | 0.81667 | 19617878 |
| KIT | 6342 | COSM33967, | breast | carcinoma | p.H580Y | Substitution - Missense | 4:54727506-54727506, | PATHOGENIC | 0.81667 | 22729910 |
| KIT | 6342 | COSM33967, | biliary_tract | carcinoma | p.H580Y | Substitution - Missense | 4:54727506-54727506, | PATHOGENIC | 0.81667 | 29360550 |
| KIT | 6342 | COSM192027, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G498D | Substitution - Missense | 4:54726003-54726003, | PATHOGENIC | 0.81198 | 27276561 |
| KIT | 6342 | COSM4125147, | large_intestine | carcinoma | p.V64A | Substitution - Missense | 4:54695635-54695635, | PATHOGENIC | 0.81098 | 27756406 |
| KIT | 6342 | COSM1184, | soft_tissue | gastrointestinal_stromal_tumour | p.M552K | Substitution - Missense | 4:54727423-54727423, | PATHOGENIC | 0.80983 | 9916918 |
| KIT | 6342 | COSM1243, | soft_tissue | gastrointestinal_stromal_tumour | p.K558K | Substitution - coding silent | 4:54727442-54727442, | PATHOGENIC | 0.80828 | 15897742 |
| KIT | 6342 | COSM1243, | soft_tissue | gastrointestinal_stromal_tumour | p.K558K | Substitution - coding silent | 4:54727442-54727442, | PATHOGENIC | 0.80828 | 9881963 |
| KIT | 6342 | COSM1243, | soft_tissue | gastrointestinal_stromal_tumour | p.K558K | Substitution - coding silent | 4:54727442-54727442, | PATHOGENIC | 0.80828 | 9881963 |
| KIT | 6342 | COSM1559703, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P627T | Substitution - Missense | 4:54727927-54727927, | PATHOGENIC | 0.80746 | 27276561 |
| KIT | 6342 | COSM6944716, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.R281S | Substitution - Missense | 4:54703810-54703810, | PATHOGENIC | 0.80377 | 28481359 |
| KIT | 6342 | COSM5020196, | soft_tissue | haemangioblastoma | p.? | Unknown | 4:54658085-54658085, | PATHOGENIC | 0.79698 | 25589003 |
| KIT | 6342 | COSM6955806, | large_intestine | carcinoma | p.T391I | Substitution - Missense | 4:54709480-54709480, | PATHOGENIC | 0.79664 | 28481359 |
| KIT | 6342 | COSM6437974, | large_intestine | carcinoma | p.E720D | Substitution - Missense | 4:54731346-54731346, | PATHOGENIC | 0.79331 | 27756406 |
| KIT | 6342 | COSM5991577, | skin | adnexal_tumour | p.M651I | Substitution - Missense | 4:54728084-54728084, | PATHOGENIC | 0.78258 | 27311873 |
| KIT | 6342 | COSM5991577, | skin | adnexal_tumour | p.M651I | Substitution - Missense | 4:54728084-54728084, | PATHOGENIC | 0.78258 | 28481359 |
| KIT | 6342 | COSM1651648, | skin | malignant_melanoma | p.F508L | Substitution - Missense | 4:54726032-54726032, | PATHOGENIC | 0.78161 | 23014346 |
| KIT | 6342 | COSM5609255, | skin | malignant_melanoma | p.G192D | Substitution - Missense | 4:54698521-54698521, | PATHOGENIC | 0.78123 | 26343386 |
| KIT | 6342 | COSM6951781, | central_nervous_system | glioma | p.M541I | Substitution - Missense | 4:54727300-54727300, | PATHOGENIC | 0.77347 | 28481359 |
| KIT | 6342 | COSM1299, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P585P | Substitution - coding silent | 4:54727523-54727523, | PATHOGENIC | 0.77004 | 11896204 |
| KIT | 6342 | COSM1299, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P585P | Substitution - coding silent | 4:54727523-54727523, | PATHOGENIC | 0.77004 | 11896204 |
| KIT | 6342 | COSM1299, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P585P | Substitution - coding silent | 4:54727523-54727523, | PATHOGENIC | 0.77004 | 11927008 |
| KIT | 6342 | COSM1299, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.P585P | Substitution - coding silent | 4:54727523-54727523, | PATHOGENIC | 0.77004 | 15643509 |
| KIT | 6342 | COSM1280, | soft_tissue | gastrointestinal_stromal_tumour | p.Y568Y | Substitution - coding silent | 4:54727472-54727472, | PATHOGENIC | 0.76687 | 10665649 |
| KIT | 6342 | COSM6906801, | breast | carcinoma | p.I539V | Substitution - Missense | 4:54727292-54727292, | PATHOGENIC | 0.765 | 29420467 |
| KIT | 6342 | COSM6906801, | breast | carcinoma | p.I539V | Substitution - Missense | 4:54727292-54727292, | PATHOGENIC | 0.765 | 28481359 |
| KIT | 6342 | COSM133755, | skin | malignant_melanoma | p.E490G | Substitution - Missense | 4:54725979-54725979, | PATHOGENIC | 0.75998 | 21325067 |
| KIT | 6342 | COSM6984373, | endometrium | carcinoma | p.C844W | Substitution - Missense | 4:54736545-54736545, | PATHOGENIC | 0.75917 | 28481359 |
| KIT | 6342 | COSM6961546, | NS | carcinoma | p.R5S | Substitution - Missense | 4:54658027-54658027, | PATHOGENIC | 0.75866 | 28481359 |
| KIT | 6342 | COSM1309, | genital_tract | germ_cell_tumour | p.I805I | Substitution - coding silent | 4:54733123-54733123, | PATHOGENIC | 0.75496 | 12379771 |
| KIT | 6342 | COSM1319, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N822N | Substitution - coding silent | 4:54733174-54733174, | PATHOGENIC | 0.75356 | 11927008 |
| KIT | 6342 | COSM29020, | endometrium | carcinoma | p.? | Unknown | 4:54727545-54727545, | PATHOGENIC | 0.7518 | 18708242 |
| KIT | 6342 | COSM6438033, | large_intestine | carcinoma | p.F858L | Substitution - Missense | 4:54736587-54736587, | PATHOGENIC | 0.75071 | 27756406 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | soft_tissue | haemangioblastoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 25589003 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27034166 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27034166 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27034166 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 26527317 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27034166 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 26527317 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 26527317 |
| KIT | 6342 | COSM28026, | large_intestine | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 26488212 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27034166 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 26527317 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | soft_tissue | haemangioblastoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 25589003 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | soft_tissue | haemangioblastoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 25589003 |
| KIT | 6342 | COSM28026, | skin | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 25589618 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27034166 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | skin | malignant_melanoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 25695693 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | breast | other | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 28116522 |
| KIT | 6342 | COSM28026, | pancreas | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27895743 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 26527317 |
| KIT | 6342 | COSM28026, | breast | carcinoma | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27034166 |
| KIT | 6342 | COSM28026, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M541L | Substitution - Missense | 4:54727298-54727298, | PATHOGENIC | 0.74397 | 27534895 |
| KIT | 6342 | COSM1315, | soft_tissue | gastrointestinal_stromal_tumour | p.K818R | Substitution - Missense | 4:54733161-54733161, | PATHOGENIC | 0.74144 | 17566038 |
| KIT | 6342 | COSM1315, | soft_tissue | gastrointestinal_stromal_tumour | p.K818R | Substitution - Missense | 4:54733161-54733161, | PATHOGENIC | 0.74144 | 17566038 |
| KIT | 6342 | COSM1315, | soft_tissue | gastrointestinal_stromal_tumour | p.K818R | Substitution - Missense | 4:54733161-54733161, | PATHOGENIC | 0.74144 | 17566038 |
| KIT | 6342 | COSM1315, | genital_tract | germ_cell_tumour | p.K818R | Substitution - Missense | 4:54733161-54733161, | PATHOGENIC | 0.74144 | 12379771 |
| KIT | 6342 | COSM1315, | soft_tissue | gastrointestinal_stromal_tumour | p.K818R | Substitution - Missense | 4:54733161-54733161, | PATHOGENIC | 0.74144 | 17566038 |
| KIT | 6342 | COSM6927066, | liver | carcinoma | p.T322A | Substitution - Missense | 4:54707136-54707136, | PATHOGENIC | 0.73683 | 28481359 |
| KIT | 6342 | COSM6961644, | large_intestine | carcinoma | p.A698E | Substitution - Missense | 4:54729437-54729437, | PATHOGENIC | 0.73221 | 28481359 |
| KIT | 6342 | COSM6920160, | lung | carcinoma | p.A280E | Substitution - Missense | 4:54703806-54703806, | PATHOGENIC | 0.73168 | 28481359 |
| KIT | 6342 | COSM1307, | genital_tract | germ_cell_tumour | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 12379771 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 23831921 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 27534895 |
| KIT | 6342 | COSM1307, | soft_tissue | haemangioblastoma | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 25589003 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 23831921 |
| KIT | 6342 | COSM1307, | testis | germ_cell_tumour | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 16741525 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 7479840 |
| KIT | 6342 | COSM1307, | soft_tissue | gastrointestinal_stromal_tumour | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 22350270 |
| KIT | 6342 | COSM1307, | testis | germ_cell_tumour | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 16741525 |
| KIT | 6342 | COSM1307, | soft_tissue | haemangioblastoma | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 25589003 |
| KIT | 6342 | COSM1307, | NS | malignant_melanoma | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 16647948 |
| KIT | 6342 | COSM1307, | bone | chordoma | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 17145809 |
| KIT | 6342 | COSM1307, | bone | chordoma | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 17145809 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 19152169 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 23831921 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 27534895 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 27534895 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 27534895 |
| KIT | 6342 | COSM1307, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 27534895 |
| KIT | 6342 | COSM1307, | soft_tissue | haemangioblastoma | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 25589003 |
| KIT | 6342 | COSM1307, | autonomic_ganglia | neuroblastoma | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 17941064 |
| KIT | 6342 | COSM1307, | bone | chordoma | p.I798I | Substitution - coding silent | 4:54733102-54733102, | PATHOGENIC | 0.72874 | 17145809 |
| KIT | 6342 | COSM4831072, | large_intestine | carcinoma | p.R634Q | Substitution - Missense | 4:54728032-54728032, | PATHOGENIC | 0.72805 | 26517354 |
| KIT | 6342 | COSM6191539, | large_intestine | carcinoma | p.F10S | Substitution - Missense | 4:54658043-54658043, | PATHOGENIC | 0.72688 | 25617745 |
| KIT | 6342 | COSM21983, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 27534895 |
| KIT | 6342 | COSM21983, | soft_tissue | desmoid_tumour-fibromatosis | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 16703880 |
| KIT | 6342 | COSM21983, | soft_tissue | haemangioblastoma | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 25589003 |
| KIT | 6342 | COSM21983, | breast | carcinoma | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 27034166 |
| KIT | 6342 | COSM21983, | bone | chordoma | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 17145809 |
| KIT | 6342 | COSM21983, | soft_tissue | desmoid_tumour-fibromatosis | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 17613214 |
| KIT | 6342 | COSM21983, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 27534895 |
| KIT | 6342 | COSM21983, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 27534895 |
| KIT | 6342 | COSM21983, | bone | chordoma | p.K546K | Substitution - coding silent | 4:54727315-54727315, | PATHOGENIC | 0.72587 | 17145809 |
| KIT | 6342 | COSM3301427, | central_nervous_system | glioma | p.D159N | Substitution - Missense | 4:54698421-54698421, | PATHOGENIC | 0.71121 | 28481359 |
| KIT | 6342 | COSM1651645, | eye | malignant_melanoma | p.D496G | Substitution - Missense | 4:54725997-54725997, | PATHOGENIC | 0.70947 | 23014346 |
| KIT | 6342 | COSM6962680, | lung | carcinoma | p.L124F | Substitution - Missense | 4:54698318-54698318, | PATHOGENIC | 0.70703 | 28481359 |
| KIT | 6342 | COSM133685, | soft_tissue | gastrointestinal_stromal_tumour | p.T500I | Substitution - Missense | 4:54726009-54726009, | PATHOGENIC | 0.70379 | 21326036 |
| KIT | 6342 | COSM33973, | salivary_gland | carcinoma | p.N512D | Substitution - Missense | 4:54726044-54726044, | NEUTRAL | 0.45907 | 19617878 |
| KIT | 6342 | COSM6916741, | stomach | carcinoma | p.I70F | Substitution - Missense | 4:54695652-54695652, | NEUTRAL | 0.44914 | 28481359 |
| KIT | 6342 | COSM6940313, | urinary_tract | carcinoma | p.E366D | Substitution - Missense | 4:54707270-54707270, | NEUTRAL | 0.42776 | 28481359 |
| KIT | 6342 | COSM447951, | oesophagus | carcinoma | p.A280V | Substitution - Missense | 4:54703806-54703806, | NEUTRAL | 0.40003 | 24686850 |
| KIT | 6342 | COSM6943972, | lung | carcinoma | p.F267L | Substitution - Missense | 4:54703768-54703768, | NEUTRAL | 0.36384 | 28481359 |
| KIT | 6342 | COSM6971864, | skin | carcinoma | p.S365F | Substitution - Missense | 4:54707266-54707266, | NEUTRAL | 0.35753 | 28481359 |
| KIT | 6342 | COSM6975770, | skin | carcinoma | p.F316C | Substitution - Missense | 4:54707119-54707119, | NEUTRAL | 0.35706 | 28481359 |
| KIT | 6342 | COSM6923934, | central_nervous_system | glioma | p.P944L | Substitution - Missense | 4:54738457-54738457, | NEUTRAL | 0.35325 | 28481359 |
| KIT | 6342 | COSM4406706, | vulva | carcinoma | p.V950M | Substitution - Missense | 4:54738474-54738474, | NEUTRAL | 0.24951 | 27834349 |
| KIT | 6342 | COSM22375, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R634R | Substitution - coding silent | 4:54728033-54728033, | NEUTRAL | 0.24736 | 16321856 |
| KIT | 6342 | COSM6921444, | lung | carcinoma | p.E344Q | Substitution - Missense | 4:54707202-54707202, | NEUTRAL | 0.24631 | 28481359 |
| KIT | 6342 | COSM42898, | urinary_tract | carcinoma | p.V50M | Substitution - Missense | 4:54695592-54695592, | NEUTRAL | 0.20869 | 28481359 |
| KIT | 6342 | COSM42898, | large_intestine | carcinoma | p.V50M | Substitution - Missense | 4:54695592-54695592, | NEUTRAL | 0.20869 | 26517354 |
| KIT | 6342 | COSM4383737, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L17P | Substitution - Missense | 4:54658064-54658064, | NEUTRAL | 0.20331 | 24030381 |
| KIT | 6342 | COSM5577543, | ovary | germ_cell_tumour | p.R804R | Substitution - coding silent | 4:54733120-54733120, | NEUTRAL | 0.18342 | 28954785 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | soft_tissue | haemangioblastoma | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 25589003 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | bone | chordoma | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 17145809 |
| KIT | 6342 | COSM1325, | soft_tissue | haemangioblastoma | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 25589003 |
| KIT | 6342 | COSM1325, | soft_tissue | haemangioblastoma | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 25589003 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 17096902 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | bone | chordoma | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 17145809 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 17096902 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | soft_tissue | haemangioblastoma | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 25589003 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 7479840 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM1325, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.L862L | Substitution - coding silent | 4:54736599-54736599, | NEUTRAL | 0.16763 | 27534895 |
| KIT | 6342 | COSM6985104, | endometrium | carcinoma | p.Y418C | Substitution - Missense | 4:54723605-54723605, | NEUTRAL | 0.16611 | 28481359 |
| KIT | 6342 | COSM5989835, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P155S | Substitution - Missense | 4:54698409-54698409, | NEUTRAL | 0.15971 | 26648538 |
| KIT | 6342 | COSM1261, | soft_tissue | gastrointestinal_stromal_tumour | p.V560V | Substitution - coding silent | 4:54727448-54727448, | NEUTRAL | 0.15817 | 10680889 |
| KIT | 6342 | COSM6967477, | lung | carcinoma | p.T718S | Substitution - Missense | 4:54731338-54731338, | NEUTRAL | 0.15363 | 28481359 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM19194, | kidney | carcinoma | p.? | Unknown | 4:54733235-54733235, | NEUTRAL | 0.14687 | 15073597 |
| KIT | 6342 | COSM6963462, | skin | carcinoma | p.G62S | Substitution - Missense | 4:54695628-54695628, | NEUTRAL | 0.1458 | 28481359 |
| KIT | 6342 | COSM1310134, | urinary_tract | carcinoma | p.R19C | Substitution - Missense | 4:54658069-54658069, | NEUTRAL | 0.14069 | 29420467 |
| KIT | 6342 | COSM1310134, | urinary_tract | carcinoma | p.R19C | Substitution - Missense | 4:54658069-54658069, | NEUTRAL | 0.14069 | 28481359 |
| KIT | 6342 | COSM1310134, | urinary_tract | carcinoma | p.R19C | Substitution - Missense | 4:54658069-54658069, | NEUTRAL | 0.14069 | 28481359 |
| KIT | 6342 | COSM1310134, | urinary_tract | carcinoma | p.R19C | Substitution - Missense | 4:54658069-54658069, | NEUTRAL | 0.14069 | 29420467 |
| KIT | 6342 | COSM6854658, | large_intestine | other | p.H263Q | Substitution - Missense | 4:54703756-54703756, | NEUTRAL | 0.14034 | 28524162 |
| KIT | 6342 | COSM6854658, | large_intestine | other | p.H263Q | Substitution - Missense | 4:54703756-54703756, | NEUTRAL | 0.14034 | 28524162 |
| KIT | 6342 | COSM6854658, | large_intestine | other | p.H263Q | Substitution - Missense | 4:54703756-54703756, | NEUTRAL | 0.14034 | 28524162 |
| KIT | 6342 | COSM6854658, | large_intestine | other | p.H263Q | Substitution - Missense | 4:54703756-54703756, | NEUTRAL | 0.14034 | 28524162 |
| KIT | 6342 | COSM6192918, | liver | carcinoma | p.E198G | Substitution - Missense | 4:54698539-54698539, | NEUTRAL | 0.13813 | 28481359 |
| KIT | 6342 | COSM5878903, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y418F | Substitution - Missense | 4:54723605-54723605, | NEUTRAL | 0.11673 | 27288520 |
| KIT | 6342 | COSM6495456, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G598G | Substitution - coding silent | 4:54727842-54727842, | NEUTRAL | 0.11393 | 27534895 |
| KIT | 6342 | COSM5878906, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y418* | Substitution - Nonsense | 4:54723606-54723606, | NEUTRAL | 0.11248 | 27288520 |
| KIT | 6342 | COSM4439762, | skin | malignant_melanoma | p.L647L | Substitution - coding silent | 4:54728072-54728072, | NEUTRAL | 0.10829 | 25363280 |
| KIT | 6342 | COSM1308, | genital_tract | germ_cell_tumour | p.L799L | Substitution - coding silent | 4:54733105-54733105, | NEUTRAL | 0.10088 | 12379771 |
| KIT | 6342 | COSM6006377, | NS | malignant_melanoma | p.E53D | Substitution - Missense | 4:54695603-54695603, | NEUTRAL | 0.097 | 25148578 |
| KIT | 6342 | COSM6980935, | lung | carcinoma | p.D361Y | Substitution - Missense | 4:54707253-54707253, | NEUTRAL | 0.09396 | 28481359 |
| KIT | 6342 | COSM6980935, | lung | carcinoma | p.D361Y | Substitution - Missense | 4:54707253-54707253, | NEUTRAL | 0.09396 | 28481359 |
| KIT | 6342 | COSM6437972, | large_intestine | carcinoma | p.A89T | Substitution - Missense | 4:54695709-54695709, | NEUTRAL | 0.09268 | 27756406 |
| KIT | 6342 | COSM6946142, | large_intestine | carcinoma | p.F229L | Substitution - Missense | 4:54699697-54699697, | NEUTRAL | 0.09018 | 28481359 |
| KIT | 6342 | COSM6953257, | urinary_tract | carcinoma | p.M318I | Substitution - Missense | 4:54707126-54707126, | NEUTRAL | 0.09012 | 28481359 |
| KIT | 6342 | COSM6938439, | large_intestine | carcinoma | p.R19G | Substitution - Missense | 4:54658069-54658069, | NEUTRAL | 0.0899 | 28481359 |
| KIT | 6342 | COSM21305, | large_intestine | carcinoma | p.L859L | Substitution - coding silent | 4:54736590-54736590, | NEUTRAL | 0.08864 | Info_not_available |
| KIT | 6342 | COSM21305, | large_intestine | carcinoma | p.L859L | Substitution - coding silent | 4:54736590-54736590, | NEUTRAL | 0.08864 | Info_not_available |
| KIT | 6342 | COSM5878905, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y418* | Substitution - Nonsense | 4:54723606-54723606, | NEUTRAL | 0.0877 | 27288520 |
| KIT | 6342 | COSM96862, | soft_tissue | gastrointestinal_stromal_tumour | p.L462L | Substitution - coding silent | 4:54725894-54725894, | NEUTRAL | 0.08762 | 20861712 |
| KIT | 6342 | COSM6437990, | large_intestine | carcinoma | p.? | Unknown | 4:54731427-54731427, | NEUTRAL | 0.08682 | 27756406 |
| KIT | 6342 | COSM3301425, | large_intestine | carcinoma | p.R135H | Substitution - Missense | 4:54698350-54698350, | NEUTRAL | 0.08671 | 28481359 |
| KIT | 6342 | COSM6437982, | large_intestine | carcinoma | p.E85* | Substitution - Nonsense | 4:54695697-54695697, | NEUTRAL | 0.06806 | 27756406 |
| KIT | 6342 | COSM33777, | skin | malignant_melanoma | p.? | Unknown | 4:54733210-54733210, | NEUTRAL | 0.06154 | 19158841 |
| KIT | 6342 | COSM5609250, | skin | malignant_melanoma | p.G62G | Substitution - coding silent | 4:54695630-54695630, | NEUTRAL | 0.06039 | 26343386 |
| KIT | 6342 | COSM6023082, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y503F | Substitution - Missense | 4:54726018-54726018, | NEUTRAL | 0.05472 | 27881874 |
| KIT | 6342 | COSM5991578, | placenta | choriocarcinoma | p.E53K | Substitution - Missense | 4:54695601-54695601, | NEUTRAL | 0.05098 | 28481359 |
| KIT | 6342 | COSM5991578, | skin | adnexal_tumour | p.E53K | Substitution - Missense | 4:54695601-54695601, | NEUTRAL | 0.05098 | 27311873 |
| KIT | 6342 | COSM5991578, | large_intestine | carcinoma | p.E53K | Substitution - Missense | 4:54695601-54695601, | NEUTRAL | 0.05098 | 28481359 |
| KIT | 6342 | COSM1694405, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.L160V | Substitution - Missense | 4:54698424-54698424, | NEUTRAL | 0.0453 | 28481359 |
| KIT | 6342 | COSM1212554, | skin | malignant_melanoma | p.R49C | Substitution - Missense | 4:54695589-54695589, | NEUTRAL | 0.0419 | 28356599 |
| KIT | 6342 | COSM1212554, | large_intestine | carcinoma | p.R49C | Substitution - Missense | 4:54695589-54695589, | NEUTRAL | 0.0419 | 26517354 |
| KIT | 6342 | COSM1145, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G51G | Substitution - coding silent | 4:54695597-54695597, | NEUTRAL | 0.03768 | 8555071 |
| KIT | 6342 | COSM1145, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G51G | Substitution - coding silent | 4:54695597-54695597, | NEUTRAL | 0.03768 | 9168438 |
| KIT | 6342 | COSM22225, | genital_tract | germ_cell_tumour | p.E73K | Substitution - Missense | 4:54695661-54695661, | NEUTRAL | 0.0358 | 16572634 |
| KIT | 6342 | COSM5989815, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.M318V | Substitution - Missense | 4:54707124-54707124, | NEUTRAL | 0.03404 | 26648538 |
| KIT | 6342 | COSM6937118, | central_nervous_system | glioma | p.P164S | Substitution - Missense | 4:54698436-54698436, | NEUTRAL | 0.03248 | 28481359 |
| KIT | 6342 | COSM6919223, | large_intestine | carcinoma | p.E73* | Substitution - Nonsense | 4:54695661-54695661, | NEUTRAL | 0.03139 | 28481359 |
| KIT | 6342 | COSM1430111, | endometrium | carcinoma | p.R122H | Substitution - Missense | 4:54698311-54698311, | NEUTRAL | 0.03134 | 28481359 |
| KIT | 6342 | COSM19025, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.G51G | Substitution - coding silent | 4:54695597-54695597, | NEUTRAL | 0.03018 | 12580961 |
| KIT | 6342 | COSM6924758, | breast | carcinoma | p.E88K | Substitution - Missense | 4:54695706-54695706, | NEUTRAL | 0.02857 | 28481359 |
| KIT | 6342 | COSM3301431, | upper_aerodigestive_tract | carcinoma | p.T232M | Substitution - Missense | 4:54699705-54699705, | NEUTRAL | 0.02572 | 28481359 |
| KIT | 6342 | COSM3301431, | oesophagus | carcinoma | p.T232M | Substitution - Missense | 4:54699705-54699705, | NEUTRAL | 0.02572 | 24686850 |
| KIT | 6342 | COSM6960719, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.G32E | Substitution - Missense | 4:54695539-54695539, | NEUTRAL | 0.02565 | 28481359 |
| KIT | 6342 | COSM1146, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 8555071 |
| KIT | 6342 | COSM1146, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 8555071 |
| KIT | 6342 | COSM1146, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 8555071 |
| KIT | 6342 | COSM308541, | skin | malignant_melanoma | p.T461T | Substitution - coding silent | 4:54725893-54725893, | NEUTRAL | 0.02416 | 21971089 |
| KIT | 6342 | COSM1146, | soft_tissue | liposarcoma | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 27237367 |
| KIT | 6342 | COSM1146, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 9168438 |
| KIT | 6342 | COSM1146, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 27276561 |
| KIT | 6342 | COSM1146, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 9168438 |
| KIT | 6342 | COSM1146, | endometrium | carcinoma | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 23199529 |
| KIT | 6342 | COSM308541, | eye | malignant_melanoma | p.T461T | Substitution - coding silent | 4:54725893-54725893, | NEUTRAL | 0.02416 | 21971089 |
| KIT | 6342 | COSM1146, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D52N | Substitution - Missense | 4:54695598-54695598, | NEUTRAL | 0.02416 | 9168438 |
| KIT | 6342 | COSM6437981, | large_intestine | carcinoma | p.T59I | Substitution - Missense | 4:54695620-54695620, | NEUTRAL | 0.02292 | 27756406 |
| KIT | 6342 | COSM1430136, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N512S | Substitution - Missense | 4:54726045-54726045, | NEUTRAL | 0.02284 | 27288520 |
| KIT | 6342 | COSM6934652, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.H101N | Substitution - Missense | 4:54695745-54695745, | NEUTRAL | 0.02219 | 28481359 |
| KIT | 6342 | COSM6005552, | prostate | carcinoma | p.Y373Y | Substitution - coding silent | 4:54709427-54709427, | NEUTRAL | 0.01793 | 20579941 |
| KIT | 6342 | COSM6494998, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P949P | Substitution - coding silent | 4:54738473-54738473, | NEUTRAL | 0.01697 | 27534895 |
| KIT | 6342 | COSM6494998, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P949P | Substitution - coding silent | 4:54738473-54738473, | NEUTRAL | 0.01697 | 27534895 |
| KIT | 6342 | COSM6494998, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P949P | Substitution - coding silent | 4:54738473-54738473, | NEUTRAL | 0.01697 | 27534895 |
| KIT | 6342 | COSM6494998, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P949P | Substitution - coding silent | 4:54738473-54738473, | NEUTRAL | 0.01697 | 27534895 |
| KIT | 6342 | COSM5020161, | soft_tissue | haemangioblastoma | p.P874P | Substitution - coding silent | 4:54736746-54736746, | NEUTRAL | 0.01666 | 25589003 |
| KIT | 6342 | COSM41602, | genital_tract | germ_cell_tumour | p.L472L | Substitution - coding silent | 4:54725926-54725926, | NEUTRAL | 0.01434 | 20001354 |
| KIT | 6342 | COSM6494994, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.T84T | Substitution - coding silent | 4:54695696-54695696, | NEUTRAL | 0.01296 | 27534895 |
| KIT | 6342 | COSM6494994, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.T84T | Substitution - coding silent | 4:54695696-54695696, | NEUTRAL | 0.01296 | 27534895 |
| KIT | 6342 | COSM327107, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T488T | Substitution - coding silent | 4:54725974-54725974, | NEUTRAL | 0.01019 | 22675565 |
| KIT | 6342 | COSM3380948, | genital_tract | germ_cell_tumour | p.T84M | Substitution - Missense | 4:54695695-54695695, | NEUTRAL | 0.01011 | 26956871 |
| KIT | 6342 | COSM1328488, | small_intestine | carcinoma | p.R49H | Substitution - Missense | 4:54695590-54695590, | NEUTRAL | 0.00605 | 26315110 |
| KIT | 6342 | COSM1328488, | large_intestine | carcinoma | p.R49H | Substitution - Missense | 4:54695590-54695590, | NEUTRAL | 0.00605 | 23700467 |
| KIT | 6342 | COSM1328488, | skin | adnexal_tumour | p.R49H | Substitution - Missense | 4:54695590-54695590, | NEUTRAL | 0.00605 | 27311873 |
| KIT | 6342 | COSM5945004, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.P34L | Substitution - Missense | 4:54695545-54695545, | NEUTRAL | 0.00424 | 27276561 |
| KIT | 6342 | COSM20536, | pancreas | carcinoma | p.N130N | Substitution - coding silent | 4:54698336-54698336, | NEUTRAL | 0.00347 | 18772397 |
| KIT | 6342 | COSM20536, | stomach | carcinoma | p.N130N | Substitution - coding silent | 4:54698336-54698336, | NEUTRAL | 0.00347 | Info_not_available |
| KIT | 6342 | COSM20536, | stomach | carcinoma | p.N130N | Substitution - coding silent | 4:54698336-54698336, | NEUTRAL | 0.00347 | Info_not_available |
| KIT | 6342 | COSM4970037, | breast | carcinoma | p.R49R | Substitution - coding silent | 4:54695591-54695591, | NEUTRAL | 0.00263 | 22722193 |
| KIT | 6342 | COSM6437987, | large_intestine | carcinoma | p.T74M | Substitution - Missense | 4:54695665-54695665, | NEUTRAL | 0.00261 | 27756406 |
| KIT | 6342 | COSM1651646, | skin | malignant_melanoma | p.T461I | Substitution - Missense | 4:54725892-54725892, | NEUTRAL | 0.00242 | 23014346 |
| KIT | 6342 | COSM12440, COSM12444, COSM1361, COSM27981, COSM27982, | soft_tissue | gastrointestinal_stromal_tumour | p.Q556_N564>R, p.V559_N564del, p.V560del, p.W557R, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727443-54727461, | Info_not_available | Info_not_available | 17255767 |
| KIT | 6342 | COSM1166935, COSM12445, COSM18891, COSM19016, COSM29862, | skin | malignant_melanoma | p.K642E, p.L576P, p.P585P, p.V560D, p.Y553_Q556del | Deletion - In frame, Substitution - Missense, Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 24918823 |
| KIT | 6342 | COSM27905, | soft_tissue | gastrointestinal_stromal_tumour | p.N655K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17489795 |
| KIT | 6342 | COSM1172, COSM1332, COSM1333, COSM4944021, COSM4944022, | soft_tissue | gastrointestinal_stromal_tumour | p.P551_E554del, p.P585_R586ins12, p.V560E, p.W557_E561del, p.W557_K558>PS | Complex - compound substitution, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727419-54727430, 4:54727436-54727441, 4:54727437-54727451, 4:54727447-54727448, 4:54727524-54727525, | Info_not_available | Info_not_available | 24997326 |
| KIT | 6342 | COSM27902, COSM27903, COSM27904, | soft_tissue | gastrointestinal_stromal_tumour | p.Q556_N566>SNNLQLY, p.Q556_V560>HNLQLY, p.Q556_V560>TTF | Complex - deletion inframe, Complex - insertion inframe | 4:54727433-54727464, 4:54727434-54727448, 4:54727436-54727447, | Info_not_available | Info_not_available | 17498562 |
| KIT | 6342 | COSM5702625, | skin | malignant_melanoma | p.C443S | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25003536 |
| KIT | 6342 | COSM12435, COSM12449, COSM12697, COSM18672, COSM19016, COSM19124, COSM27121, COSM27576, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del, p.P551_M552del, p.V559D, p.V559G, p.V560D, p.W557_E561del, p.W557_K558>E, p.W557_K558del | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17527083 |
| KIT | 6342 | COSM1326, | large_intestine | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 25024074 |
| KIT | 6342 | COSM27901, | soft_tissue | gastrointestinal_stromal_tumour | p.P551_V559del>L | Deletion - In frame | 4:54727420-54727446, | Info_not_available | Info_not_available | 17546507 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25034364 |
| KIT | 6342 | COSM1320, COSM27909, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K, p.Y553_K558> | Complex - deletion inframe, Substitution - Missense | 4:54727424-54727441, 4:54733174-54733174, | Info_not_available | Info_not_available | 17566038 |
| KIT | 6342 | COSM1232, COSM1294, COSM27069, COSM27070, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.K558_V560>N, p.Q556_D572del, p.W557_V560>C | Complex - deletion inframe, Deletion - In frame | 4:54727433-54727484, 4:54727439-54727447, 4:54727442-54727447, 4:54727503-54727505, | Info_not_available | Info_not_available | 17623951 |
| KIT | 6342 | COSM12445, COSM18891, | skin | malignant_melanoma | p.K642E, p.L576P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25070294 |
| KIT | 6342 | COSM18740, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_V559>C | Complex - deletion inframe | Info_not_available | Info_not_available | Info_not_available | 17625442 |
| KIT | 6342 | COSM1294, COSM96945, | NS | malignant_melanoma | p.D579del, p.L576del | Deletion - In frame | 4:54727495-54727497, 4:54727503-54727505, | Info_not_available | Info_not_available | 25148578 |
| KIT | 6342 | COSM27121, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_E561del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 17629038 |
| KIT | 6342 | COSM12435, COSM12445, COSM1361, COSM1583020, COSM18830, COSM19016, COSM19023, COSM27121, COSM27126, COSM28482, COSM29322, COSM29873, COSM308545, COSM308551, COSM308552, COSM53312, | soft_tissue | gastrointestinal_stromal_tumour | p.?_?ins?, p.A829P, p.L576P, p.M552_W557>Z, p.N564_L576del, p.N822K, p.P551_E554del, p.P585_R586ins12, p.V559D, p.V560D, p.V569_Y578del, p.W557R, p.W557_E561del, p.W557_K558del, p.Y553_V559>L | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25239601 |
| KIT | 6342 | COSM1157, COSM12391, COSM12434, COSM12435, COSM12438, COSM12439, COSM12440, COSM12444, COSM12449, COSM12697, COSM1342, COSM1355, COSM1361, COSM18688, COSM18740, COSM18744, COSM19016, COSM19124, COSM22425, COSM22426, COSM23418, COSM23419, COSM24702, COSM27078, COSM27079, COSM27080, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D579_H580insIDPTQLPYD, p.H580_K581insPYDH, p.K550_K558del, p.K550_Q556>L, p.K558_E562del, p.K558_G565>R, p.K558_V559>N, p.M552_V555del, p.Q556_K558del, p.V555_Q556del, p.V555_V559del, p.V559D, p.V559G, p.V559_E561del, p.V560D, p.V560E, p.V560del, p.W557G, p.W557R, p.W557_K558>E, p.W557_K558del, p.W557_V559>C, p.W557del, p.Y503_F504insAY, p.Y553_K558del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | 4:54727434-54727442, | Info_not_available | Info_not_available | 17673922 |
| KIT | 6342 | COSM1355, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 25241285 |
| KIT | 6342 | COSM24838, COSM28578, COSM28579, COSM28580, COSM28582, COSM28583, COSM28584, COSM28585, COSM28586, COSM28587, COSM28591, COSM28592, COSM28593, COSM28596, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D327N, p.E270K, p.E338K, p.E53K, p.E554K, p.E720K, p.E761K, p.G658E, p.H802Y, p.K778fs*36, p.M351I, p.M724I, p.V560G, p.Y672S | Deletion - Frameshift, Substitution - Missense | 4:54731970-54731970, | Info_not_available | Info_not_available | 17710669 |
| KIT | 6342 | COSM1247, | thymus | thymic_carcinoma | p.V559del | Deletion - In frame | 4:54727443-54727445, | Info_not_available | Info_not_available | 25249426 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12445, COSM12697, COSM1359, COSM1361, COSM18745, COSM19011, COSM19016, COSM22425, COSM24858, COSM25034, COSM29004, COSM29317, COSM29319, COSM29322, COSM29867, COSM29876, COSM33698, COSM34168, COSM34169, COSM34170, COSM34173, COSM34174, COSM34175, COSM34176, COSM34178, COSM34183, COSM34185, COSM34188, COSM34189, | soft_tissue | gastrointestinal_stromal_tumour | p.G470R, p.H580_K581insPTQLPYDHL, p.K550_E554>I, p.K550_W557>HR, p.K550_W557>QR, p.K558_L576del, p.K558_V560del, p.K558del, p.L576P, p.L576del, p.L589P, p.M552_Y570del, p.N564_P577del, p.N564_Y568del, p.N567_L576>KV, p.P551_Y553del, p.Q556_D572>H, p.Q556_E561>P, p.Q556_W557del, p.V559D, p.V559G, p.V559del, p.V560D, p.V560E, p.V560del, p.W557G, p.W557R, p.W557_K558>F, p.W557_K558del, p.Y503_F504insAY, p.Y570F | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17827398 |
| KIT | 6342 | COSM1294, | skin | malignant_melanoma | p.D579del | Deletion - In frame | 4:54727503-54727505, | Info_not_available | Info_not_available | 25363280 |
| KIT | 6342 | COSM18891, COSM19016, COSM19023, COSM24641, COSM24707, COSM24709, COSM24838, COSM24859, COSM27120, COSM27121, COSM27122, COSM27124, COSM27125, COSM27126, COSM27127, | soft_tissue | gastrointestinal_stromal_tumour | p.C809G, p.D816H, p.K558_V559del, p.K642E, p.N822H, p.N822K, p.P551_E554del, p.V560D, p.V560G, p.V654A, p.W557_E561del, p.W557_V560>C, p.W557_V560>F, p.Y553_K558del, p.Y823D | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17875769 |
| KIT | 6342 | COSM85779, | soft_tissue | gastrointestinal_stromal_tumour | p.V559_G565del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 25525851 |
| KIT | 6342 | COSM12444, COSM27071, | soft_tissue | gastrointestinal_stromal_tumour | p.V559_V560del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame | Info_not_available | Info_not_available | Info_not_available | 17909012 |
| KIT | 6342 | COSM1226, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_V559>F | Complex - deletion inframe | 4:54727438-54727443, | Info_not_available | Info_not_available | 25547508 |
| KIT | 6342 | COSM27127, COSM28677, COSM28678, COSM36197, COSM36198, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H, p.D816V, p.D816Y, p.Y418N, p.Y418_D419insFF | Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17960171 |
| KIT | 6342 | COSM4984820, | lung | carcinoma | p.R956Q | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25567908 |
| KIT | 6342 | COSM12444, COSM12449, COSM27074, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del, p.W557_V559del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame | Info_not_available | Info_not_available | Info_not_available | 18042065 |
| KIT | 6342 | COSM133778, COSM6495525, COSM6495526, COSM6495527, COSM6495528, COSM6495529, | eye | malignant_melanoma | p.D496N, p.E583E, p.G565E, p.H630H, p.L656R, p.R830* | Substitution - Missense, Substitution - Nonsense, Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 25595173 |
| KIT | 6342 | COSM1361, | skin | malignant_melanoma | p.W557R | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18066592 |
| KIT | 6342 | COSM12445, COSM24706, COSM27121, COSM5702645, | skin | malignant_melanoma | p.D579_H580insPYD, p.D820Y, p.L576P, p.W557_E561del | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25609545 |
| KIT | 6342 | COSM1355, | soft_tissue | gastrointestinal_stromal_tumour | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 18259950 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25615281 |
| KIT | 6342 | COSM12440, COSM12444, COSM12449, COSM1364, COSM18890, COSM19016, COSM19023, COSM19215, COSM23419, COSM24640, COSM24641, COSM24707, COSM24708, COSM24709, COSM24817, COSM27121, COSM27127, COSM28477, COSM28478, COSM28479, COSM28480, COSM28481, COSM28482, COSM28483, COSM28597, COSM28598, COSM28599, COSM28637, | soft_tissue | gastrointestinal_stromal_tumour | p.A829P, p.C809G, p.D816E, p.D816H, p.D820V, p.E554_Y570del, p.K558_V559>N, p.K558_V559>SS, p.K786N, p.M552_D572del, p.N822D, p.N822K, p.N822Y, p.P551_V559>I, p.Q556_W557del, p.T670I, p.V555_D572del, p.V559_T574del, p.V560D, p.V560_D572del, p.V560del, p.V654A, p.W557_E561del, p.W557_K558del, p.Y503_F504insAY, p.Y570_Y578del, p.Y823D | Complex - compound substitution, Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727440-54727444, | Info_not_available | Info_not_available | 18294292 |
| KIT | 6342 | COSM12445, COSM1361, COSM18891, COSM19016, COSM19023, COSM24706, COSM27121, COSM5702631, COSM5702632, COSM5702633, COSM5702634, | haematopoietic_and_lymphoid_tissue, skin | haematopoietic_neoplasm, malignant_melanoma | p.D820Y, p.K642E, p.L576P, p.L831P, p.N822K, p.R634Q, p.V559C, p.V560D, p.W557R, p.W557_E561del, p.Y646D | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25695690 |
| KIT | 6342 | COSM1157, COSM12444, COSM12448, COSM12449, COSM12453, COSM12455, COSM1357, COSM19016, COSM21952, COSM25036, COSM28027, COSM28029, | soft_tissue | gastrointestinal_stromal_tumour | p.A502_Y503insAS, p.D579del, p.K550_E554del, p.K550_K558del, p.K558>NP, p.P551_K558del, p.P551_Q556del, p.V559A, p.V559_G565del, p.V560D, p.W557_K558del, p.Y503_F504insAY | Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18350628 |
| KIT | 6342 | COSM1233, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_V559>C | Complex - deletion inframe | 4:54727439-54727444, | Info_not_available | Info_not_available | 25722316 |
| KIT | 6342 | COSM1241, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_V560>I | Complex - deletion inframe | 4:54727441-54727446, | Info_not_available | Info_not_available | 18382354 |
| KIT | 6342 | COSM5346905, | skin | carcinoma, other | p.M541L | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25724524 |
| KIT | 6342 | COSM19116, COSM24838, COSM24844, COSM28064, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419del, p.D816?, p.K509I, p.V560G | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18404201 |
| KIT | 6342 | COSM12444, COSM29869, COSM5702515, COSM88195, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_E562del, p.P551A, p.S821F, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25735500 |
| KIT | 6342 | COSM1226, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_V559>F | Complex - deletion inframe | 4:54727438-54727443, | Info_not_available | Info_not_available | 18408593 |
| KIT | 6342 | COSM1666913, | ovary | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 25846456 |
| KIT | 6342 | COSM29430, | skin | malignant_melanoma | p.E583_F584insPYDHKWE | Insertion - In frame | 4:54727516-54727517, | Info_not_available | Info_not_available | 18421059 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12453, COSM12697, COSM133674, COSM1361, COSM18680, COSM18740, COSM18891, COSM19023, COSM24706, COSM24707, COSM24838, COSM24859, COSM27121, COSM28692, COSM29322, COSM29343, COSM29347, COSM29867, COSM29870, COSM29876, COSM308552, COSM51536, COSM5352261, COSM5352263, COSM5352264, COSM5352265, COSM5352266, COSM5352267, COSM5352269, COSM5352271, COSM5352272, COSM5352273, COSM85784, COSM98421, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D579_H580>QQLPYD, p.D579del, p.D820G, p.D820Y, p.I563_P573del, p.I563_P577>N, p.K550_K558del, p.K550_V555>L, p.K558_V560>S, p.K558_V560del, p.K642E, p.K818_D820>N, p.M552_K558del, p.M552_V559del, p.N566D, p.N567_L576>I, p.N567_Y578>SCV, p.N822K, p.Q556_W557del, p.T670E, p.V559A, p.V559D, p.V559G, p.V560G, p.V569_Y578del, p.W557G, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_V559>C, p.W557_V559>F, p.W557_V560>C, p.Y503_F504insAY, p.Y570_L576del, p.Y578C, p.Y823D | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | 4:54727416-54727440, | Info_not_available | Info_not_available | 25886408 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18448146 |
| KIT | 6342 | COSM5032213, | lung | carcinoma | p.S692L | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25922291 |
| KIT | 6342 | COSM12444, COSM24641, COSM24705, COSM24706, COSM250039, COSM28481, COSM28692, COSM28693, COSM29322, COSM29343, COSM5702502, COSM85775, | soft_tissue | gastrointestinal_stromal_tumour | p.C809G, p.D816E, p.D820E, p.D820G, p.D820Y, p.K558_V559ins?, p.P577_Y578del, p.Q556_L576del, p.Q556_P573del, p.W557_K558del, p.Y503_F504insAY, p.Y570_L576del | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18452195 |
| KIT | 6342 | COSM6008882, COSM6008883, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R420fs*30, p.T417_D419>N | Complex - deletion inframe, Insertion - Frameshift | 4:54723602-54723607, 4:54723608-54723609, | Info_not_available | Info_not_available | 25932436 |
| KIT | 6342 | COSM29004, | soft_tissue | gastrointestinal_stromal_tumour | p.K558del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 18483389 |
| KIT | 6342 | COSM6024063, COSM6024170, | NS | carcinoma | p.?, p.V50M | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 26182302 |
| KIT | 6342 | COSM1226, COSM12435, COSM12444, COSM12445, COSM12697, COSM1326, COSM1357, COSM1361, COSM18740, COSM18832, COSM19023, COSM24838, COSM25033, COSM25063, COSM27071, COSM28991, COSM28992, COSM28993, COSM28994, COSM28995, COSM28998, COSM29319, COSM29322, COSM29350, COSM29858, COSM29862, COSM29863, COSM29865, COSM29867, COSM29868, COSM29869, COSM29870, COSM29871, COSM29873, COSM29874, COSM29875, COSM29876, COSM29877, COSM29878, COSM29879, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558>G, p.G592_K593ins16, p.H580_K581insYDH, p.I571_D572insPS, p.K550_K558del, p.K558>NP, p.K558_E562del, p.K558_V560del, p.K558_Y570>N, p.K581_W582insDHK, p.L548_K558>Q, p.L576P, p.M552_W557del, p.N564_L576del, p.N587_R588ins15, p.N822K, p.P551_V555del, p.P585_R586ins12, p.Q556_D572>PS, p.Q556_K558>R, p.Q556_W557del, p.V559D, p.V559G, p.V559_E562del, p.V559_V560del, p.V560G, p.V560del, p.W557R, p.W557_K558>CT, p.W557_K558del, p.W557_T574del, p.W557_V559>C, p.W557_V559>F, p.Y503_F504insAY, p.Y547_K558>Q, p.Y553_Q556del | Complex - compound substitution, Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, 4:54727434-54727484, 4:54727435-54727441, 4:54727438-54727443, 4:54727439-54727441, 4:54727442-54727477, 4:54727508-54727509, 4:54727542-54727543, | Info_not_available | Info_not_available | 18488000 |
| KIT | 6342 | COSM5346905, COSM6849489, COSM6849490, | central_nervous_system | glioma | p.D820H, p.M541L, p.P37S | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26191234 |
| KIT | 6342 | COSM24844, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816? | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18509466 |
| KIT | 6342 | COSM12445, COSM3724520, | penis | carcinoma | p.D52N, p.L576P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26216163 |
| KIT | 6342 | COSM18891, | skin | malignant_melanoma | p.K642E | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18510589 |
| KIT | 6342 | COSM18891, COSM19016, COSM24709, COSM28999, COSM29000, COSM29001, | soft_tissue | gastrointestinal_stromal_tumour | p.D820A, p.E554_K558del, p.K642E, p.M552_K558>T, p.V560D, p.V654A | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18521081 |
| KIT | 6342 | COSM5346905, | bone | chordoma | p.M541L | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26366211 |
| KIT | 6342 | COSM29016, | soft_tissue | gastrointestinal_stromal_tumour | p.I571_N587del | Deletion - In frame | 4:54727480-54727530, | Info_not_available | Info_not_available | 18547614 |
| KIT | 6342 | COSM28693, | oesophagus | carcinoma | p.D820E | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26462025 |
| KIT | 6342 | COSM1355, | soft_tissue | gastrointestinal_stromal_tumour | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 18547963 |
| KIT | 6342 | COSM1361, | soft_tissue | gastrointestinal_stromal_tumour | p.W557R | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26464733 |
| KIT | 6342 | COSM29014, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419del | Deletion - In frame | 4:54723607-54723609, | Info_not_available | Info_not_available | 18567837 |
| KIT | 6342 | COSM6503287, | kidney | carcinoma | p.P467S | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26527083 |
| KIT | 6342 | COSM12445, COSM1326, COSM18680, COSM18740, COSM18891, COSM24640, COSM24706, COSM24707, COSM24708, COSM24709, COSM24825, COSM27127, COSM28482, COSM28692, COSM29012, COSM29870, COSM30731, | soft_tissue | gastrointestinal_stromal_tumour | p.A829P, p.D816H, p.D820G, p.D820Y, p.E554_V559del, p.K550_K558del, p.K642E, p.L576P, p.N822Y, p.P577_D579del, p.T670I, p.V560_L576del, p.V654A, p.W557_V559>C, p.W557_V559>F, p.Y503_F504insAY, p.Y823D | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, | Info_not_available | Info_not_available | 18623623 |
| KIT | 6342 | COSM6191560, COSM6191561, | lung | carcinoid-endocrine_tumour | p.K546R, p.M638fs*7 | Deletion - Frameshift, Substitution - Missense | 4:54727314-54727315, 4:54728043-54728043, | Info_not_available | Info_not_available | 26645239 |
| KIT | 6342 | COSM12440, COSM12444, COSM29017, | soft_tissue | gastrointestinal_stromal_tumour | p.D820N, p.V560del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18628470 |
| KIT | 6342 | COSM34207, | soft_tissue | gastrointestinal_stromal_tumour | p.(449_514)? | Unknown | Info_not_available | Info_not_available | Info_not_available | 26721303 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18663058 |
| KIT | 6342 | COSM36317, | skin | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 26725706 |
| KIT | 6342 | COSM12434, COSM12435, COSM1361, COSM19016, COSM25036, COSM27125, COSM29317, COSM29318, COSM29319, COSM29320, COSM29321, COSM29322, COSM29323, COSM29324, COSM29429, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.K550_E554del, p.K550_Q556del, p.K558_V559del, p.M552_V559>I, p.M552_Y553>T, p.P551_Y553>Q, p.V559D, p.V559del, p.V560D, p.V560del, p.W557G, p.W557R, p.W557_K558del, p.Y568_Y570del | Complex - deletion inframe, Deletion - In frame, Substitution - Missense, Unknown | 4:54727413-54727433, | Info_not_available | Info_not_available | 18724245 |
| KIT | 6342 | COSM24709, COSM27074, COSM27126, COSM28482, COSM29870, | soft_tissue | gastrointestinal_stromal_tumour | p.A829P, p.K550_K558del, p.P551_E554del, p.V654A, p.W557_V559del | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26779618 |
| KIT | 6342 | COSM1163, COSM1200, COSM1226, COSM1247, COSM1326, COSM29354, COSM29442, COSM29443, | soft_tissue | gastrointestinal_stromal_tumour | p.D479fs*2, p.H697fs*28, p.I563_L576del, p.K550_K558del, p.V555_I571del, p.V559del, p.W557_V559>F, p.Y503_F504insAY | Complex - deletion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - In frame | 4:54725944-54725972, 4:54726019-54726020, 4:54727416-54727442, 4:54727431-54727481, 4:54727438-54727443, 4:54727443-54727445, 4:54727455-54727496, 4:54729433-54729433, | Info_not_available | Info_not_available | 18779314 |
| KIT | 6342 | COSM12692, COSM5731851, | urinary_tract | carcinoma | p.E562D, p.K558N | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26788274 |
| KIT | 6342 | COSM1181, COSM1210, COSM1217, COSM1218, COSM12435, COSM12445, COSM12453, COSM1247, COSM1285, COSM1294, COSM1326, COSM1328, COSM1361, COSM19016, COSM24838, COSM29317, COSM29342, COSM29344, COSM29345, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.L576P, p.M552_E554del, p.M552_W557del, p.S476I, p.V559A, p.V559D, p.V559del, p.V560D, p.V560G, p.W557R, p.W557_K558del, p.W557_V559del, p.Y503_F504insAY, p.Y553_W557>R, p.Y570_L576>R, p.Y570_L576del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, 4:54727422-54727430, 4:54727423-54727440, 4:54727435-54727440, 4:54727437-54727442, 4:54727437-54727445, 4:54727443-54727445, 4:54727476-54727496, 4:54727503-54727505, | Info_not_available | Info_not_available | 18785120 |
| KIT | 6342 | COSM1361, COSM19015, COSM25036, COSM27074, COSM29862, COSM29869, COSM5757642, COSM5757643, | soft_tissue | gastrointestinal_stromal_tumour | p.I563L, p.K550_E554del, p.K550_V555>I, p.K558_E562del, p.V560_N564>D, p.W557R, p.W557_V559del, p.Y553_Q556del | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 26796526 |
| KIT | 6342 | COSM12435, COSM24709, COSM29356, | soft_tissue | gastrointestinal_stromal_tumour | p.Q556_T574del, p.V559D, p.V654A | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18830121 |
| KIT | 6342 | COSM5702582, | ovary | germ_cell_tumour | p.D952fs*1 | Insertion - Frameshift | 4:54738476-54738477, | Info_not_available | Info_not_available | 26822237 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18931652 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12445, COSM1357, COSM18891, COSM19016, COSM19023, COSM214352, COSM24641, COSM24702, COSM24706, COSM24707, COSM24708, COSM24709, COSM24838, COSM24859, COSM25008, COSM27121, COSM27122, COSM27124, COSM27125, COSM27126, COSM27127, COSM27576, COSM28482, COSM28613, COSM28692, COSM28999, COSM29001, COSM29012, COSM29321, COSM29322, COSM29347, COSM29477, COSM29870, COSM29877, COSM30608, COSM30731, COSM34168, COSM36317, COSM36999, COSM5351737, COSM5351738, COSM5351739, COSM5351743, COSM5351744, COSM85776, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.?fs, p.A829P, p.C809G, p.D579del, p.D816A, p.D816H, p.D820A, p.D820G, p.D820Y, p.E554_K558del, p.I563_T574del, p.K550_K558del, p.K550_Q556del, p.K550_V559del, p.K558>NP, p.K558_I563>NV, p.K558_V559del, p.K642E, p.L576P, p.N564_Y568del, p.N822H, p.N822K, p.P551_E554del, p.P551_M552del, p.P577_D579del, p.Q556_D572del, p.R588_L589ins15, p.T670I, p.V555_E562del, p.V555_V559del, p.V559D, p.V560D, p.V560G, p.V560_L576del, p.V569_L576del, p.V654A, p.W557G, p.W557_E561del, p.W557_K558>Q, p.W557_K558del, p.W557_T574del, p.W557_V560>C, p.Y503_F504insAY, p.Y553_K558del, p.Y568_L576>VN, p.Y823D | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - Frameshift, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 18955458 |
| KIT | 6342 | COSM12445, COSM1355, COSM29862, COSM29870, COSM3724520, | breast, large_intestine | carcinoma | p.?, p.D52N, p.K550_K558del, p.L576P, p.Y553_Q556del | Deletion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 26968814 |
| KIT | 6342 | COSM12435, COSM12444, COSM19124, COSM29001, COSM29322, COSM29360, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del, p.K558_I563del, p.V559D, p.W557_K558>E, p.W557_K558del, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18973210 |
| KIT | 6342 | COSM1148, COSM1578132, COSM1600401, COSM22395, COSM29014, COSM30712, COSM5878899, COSM6022421, COSM6022422, COSM6022423, COSM6022424, COSM6022425, COSM6022426, COSM6022427, COSM6022428, COSM6022429, COSM6022987, COSM6022989, COSM6022990, COSM6022991, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419_R420del, p.D419del, p.H579_K580ins8, p.K558_V560>NPLL, p.T417_D419>F, p.T417_D419>I, p.T417_D419>L, p.T417_D419>M, p.T417_D419>S, p.T417_D419>Y, p.Y418_D419>G, p.Y418_D419>S, p.Y418_D419insFF, p.Y418_L421>MR, p.Y418_L421>SWG, p.Y418_R420>S | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame | 4:54723600-54723607, 4:54723600-54723608, 4:54723601-54723608, 4:54723602-54723608, 4:54723602-54723609, 4:54723602-54723611, 4:54723603-54723608, 4:54723604-54723614, 4:54723605-54723610, 4:54723605-54723614, 4:54723606-54723607, 4:54723607-54723609, 4:54723607-54723612, 4:54727442-54727446, 4:54727506-54727507, | Info_not_available | Info_not_available | 26980726 |
| KIT | 6342 | COSM19023, COSM27127, COSM28677, COSM29856, COSM29857, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H, p.D816V, p.I531_V532insGF, p.N822K, p.P585_R586ins17 | Insertion - In frame, Substitution - Missense | 4:54727270-54727271, 4:54727523-54727524, | Info_not_available | Info_not_available | 18977345 |
| KIT | 6342 | COSM6506595, COSM6506596, | breast | carcinoma | p.E583K, p.V540V | Substitution - Missense, Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 27034166 |
| KIT | 6342 | COSM12445, COSM12453, COSM12692, COSM1361, COSM24707, COSM24825, COSM29317, | eye, skin | malignant_melanoma | p.E554_V559del, p.K558N, p.L576P, p.V559A, p.V559del, p.W557R, p.Y823D | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 18980976 |
| KIT | 6342 | COSM214352, | soft_tissue | gastrointestinal_stromal_tumour | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 27040071 |
| KIT | 6342 | COSM12445, COSM1361, COSM29347, COSM29526, COSM29527, | skin | malignant_melanoma | p.D579del, p.I841V, p.K550N, p.L576P, p.W557R | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19018266 |
| KIT | 6342 | COSM6987752, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816_I817>LL | Complex - compound substitution | 4:54733153-54733157, | Info_not_available | Info_not_available | 27139612 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19021706 |
| KIT | 6342 | COSM5881409, | endometrium | carcinoma | p.C788Y | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27170661 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19034614 |
| KIT | 6342 | COSM5878892, COSM5878893, COSM5878894, COSM5878895, COSM5878896, COSM5878897, COSM5878898, COSM5878899, COSM5878900, COSM5878901, COSM5878902, COSM5878904, COSM5878909, COSM5878913, COSM5878914, COSM5878915, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419fs*5, p.H580_K581ins10, p.K558>NVEG, p.L416_L421>WGKF, p.L576_P577insEE, p.T417_D419>FG, p.T417_D419>I, p.T417_D419>RT, p.T417_D419>Y, p.T417delT, p.T417fs*28, p.Y418_D419>A, p.Y418_D419>G, p.Y418_D419insFL, p.Y418_R420>RW, p.Y418_R420>SW | Complex - deletion inframe, Complex - insertion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Insertion - In frame | 4:54723598-54723613, 4:54723600-54723602, 4:54723600-54723607, 4:54723600-54723608, 4:54723601-54723608, 4:54723602-54723609, 4:54723603-54723608, 4:54723603-54723610, 4:54723605-54723606, 4:54723605-54723610, 4:54723608-54723609, 4:54727441-54727442, 4:54727476-54727477, 4:54727496-54727497, | Info_not_available | Info_not_available | 27288520 |
| KIT | 6342 | COSM18891, COSM24706, | skin | malignant_melanoma | p.D820Y, p.K642E | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19035443 |
| KIT | 6342 | COSM1190, | soft_tissue | gastrointestinal_stromal_tumour | p.Y553_K558del | Deletion - In frame | 4:54727425-54727442, | Info_not_available | Info_not_available | 19084944 |
| KIT | 6342 | COSM5967237, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.V530I | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27449473 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19116630 |
| KIT | 6342 | COSM12445, COSM133786, COSM18891, COSM24640, COSM28677, COSM5945970, COSM5945974, COSM5945975, COSM5945976, COSM5945977, COSM5945978, COSM5945979, | skin | malignant_melanoma | p.D816N, p.D816V, p.E561G, p.K642E, p.L576P, p.N819S, p.N822S, p.N822Y, p.S453Y, p.S864P, p.V489A, p.Y503H | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27498141 |
| KIT | 6342 | COSM12444, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | Info_not_available | Info_not_available | Info_not_available | 19121840 |
| KIT | 6342 | COSM6191656, | breast | carcinoma | p.T67S | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27531819 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19135713 |
| KIT | 6342 | COSM6494996, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y418fs*3 | Deletion - Frameshift | 4:54723601-54723607, | Info_not_available | Info_not_available | 27534895 |
| KIT | 6342 | COSM1169, COSM30550, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_V555>KTL, p.P551_V555del | Complex - deletion inframe, Deletion - In frame | 4:54727418-54727431, 4:54727419-54727433, | Info_not_available | Info_not_available | 19139124 |
| KIT | 6342 | COSM30545, | soft_tissue | gastrointestinal_stromal_tumour | p.V559_P573>A | Complex - deletion inframe | 4:54727444-54727485, | Info_not_available | Info_not_available | 19154263 |
| KIT | 6342 | COSM12445, COSM12453, | skin | malignant_melanoma | p.L576P, p.V559A | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27771229 |
| KIT | 6342 | COSM33774, COSM33775, COSM33776, | skin | malignant_melanoma | p.N495N, p.S864F, p.Y494Y | Substitution - Missense, Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 19158841 |
| KIT | 6342 | COSM27121, COSM6019353, COSM6019354, | soft_tissue | gastrointestinal_stromal_tumour | p.K558>NP, p.N655T, p.W557_E561del | Complex - insertion inframe, Deletion - In frame, Substitution - Missense | 4:54727440-54727442, | Info_not_available | Info_not_available | 27864817 |
| KIT | 6342 | COSM1148, COSM19023, COSM29014, COSM29818, COSM29819, COSM29820, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419del, p.D816>VVA, p.N822K, p.T417_D419>I, p.T417_D419>KT, p.Y418_D419insFL | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54723602-54723608, 4:54723606-54723607, 4:54723607-54723609, 4:54733155-54733156, | Info_not_available | Info_not_available | 19176031 |
| KIT | 6342 | COSM6008996, | skin | malignant_melanoma | p.K558del | Deletion - In frame | 4:54727440-54727442, | Info_not_available | Info_not_available | 27914687 |
| KIT | 6342 | COSM18680, COSM30547, COSM30548, | soft_tissue | gastrointestinal_stromal_tumour | p.V569I, p.W557_K558>CQ, p.W557_V559>F | Complex - compound substitution, Complex - deletion inframe, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19182535 |
| KIT | 6342 | COSM1169439, COSM1355, COSM24706, COSM24707, COSM24709, COSM28599, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D820V, p.D820Y, p.V654A, p.Y570_Y578del, p.Y823D | Deletion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 27997714 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19193436 |
| KIT | 6342 | COSM6904315, | lung | carcinoma | p.C537S | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28088512 |
| KIT | 6342 | COSM1217, COSM1256, COSM1294, COSM30549, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.V555_V560>V, p.V560del, p.W557_K558del | Complex - deletion inframe, Deletion - In frame | 4:54727433-54727447, 4:54727437-54727442, 4:54727446-54727448, 4:54727503-54727505, | Info_not_available | Info_not_available | 19207305 |
| KIT | 6342 | COSM12391, COSM12444, COSM1342, COSM24709, COSM30607, COSM30608, | soft_tissue | gastrointestinal_stromal_tumour | p.F591_G592ins15, p.K558_G565>R, p.M552_V555del, p.Q556_D572del, p.V654A, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19236505 |
| KIT | 6342 | COSM5346905, | soft_tissue | fibrosarcoma | p.M541L | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28304377 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19262599 |
| KIT | 6342 | COSM6191631, COSM98392, | skin | carcinoma | p.P577S, p.S38F | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28368926 |
| KIT | 6342 | COSM19016, COSM214352, COSM255209, COSM30731, COSM308545, COSM3734758, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.?_?ins?, p.P577_D579del, p.R586_N587ins12, p.V560D | Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 19269008 |
| KIT | 6342 | COSM12445, | skin | malignant_melanoma | p.L576P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28373299 |
| KIT | 6342 | COSM1217, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del | Deletion - In frame | 4:54727437-54727442, | Info_not_available | Info_not_available | 19294538 |
| KIT | 6342 | COSM30595, | soft_tissue | gastrointestinal_stromal_tumour | p.P585_R586ins14 | Insertion - In frame | 4:54727523-54727524, | Info_not_available | Info_not_available | 19319643 |
| KIT | 6342 | COSM28677, COSM6904486, | upper_aerodigestive_tract | carcinoma | p.D816V, p.S106F | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28493366 |
| KIT | 6342 | COSM12435, COSM1247, COSM29319, COSM33711, COSM33712, COSM33713, COSM33714, | soft_tissue | gastrointestinal_stromal_tumour | p.E554A, p.E561D, p.K558Q, p.V555E, p.V559D, p.V559del, p.V560del | Deletion - In frame, Substitution - Missense | 4:54727443-54727445, | Info_not_available | Info_not_available | 19333543 |
| KIT | 6342 | COSM6987753, | upper_aerodigestive_tract | carcinoma | p.Q575_L576del | Deletion - In frame | 4:54727492-54727497, | Info_not_available | Info_not_available | 28581676 |
| KIT | 6342 | COSM1355, COSM28677, COSM28678, COSM29477, COSM29478, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?, p.D816A, p.D816V, p.D816Y, p.I817L | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 19369623 |
| KIT | 6342 | COSM12445, COSM1355, COSM28677, | skin | malignant_melanoma | p.?, p.D816V, p.L576P | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 28870692 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM1361, COSM18740, COSM23419, COSM24702, COSM29322, COSM36177, COSM36178, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_P551del, p.K558_V559>N, p.Q556_K558del, p.V555_V559del, p.V559D, p.W557G, p.W557R, p.W557_K558del, p.W557_V559>C, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19369884 |
| KIT | 6342 | COSM6904600, COSM6904601, COSM6904602, | breast | carcinoma | p.G745G, p.L783F, p.S746L | Substitution - Missense, Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 28921573 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19383925 |
| KIT | 6342 | COSM18891, | skin | malignant_melanoma | p.K642E | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28944487 |
| KIT | 6342 | COSM29350, | soft_tissue | gastrointestinal_stromal_tumour | p.M552_W557del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 19384074 |
| KIT | 6342 | COSM6904757, COSM6906038, | urinary_tract | carcinoma | p.D975N, p.N587H | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28945843 |
| KIT | 6342 | COSM37027, | soft_tissue | gastrointestinal_stromal_tumour | p.V555_G565del | Deletion - In frame | 4:54727431-54727463, | Info_not_available | Info_not_available | 19386957 |
| KIT | 6342 | COSM1157, COSM1169, COSM1248, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_K558del, p.P551_V555del, p.V559_V560del | Deletion - In frame | 4:54727419-54727433, 4:54727443-54727448, | Info_not_available | Info_not_available | 9438854 |
| KIT | 6342 | COSM1163, COSM1170, COSM1172, COSM1180, COSM1181, COSM1190, COSM1192, COSM1204, COSM1205, COSM1217, COSM1218, COSM1226, COSM1233, COSM1235, COSM12456, COSM1247, COSM1248, COSM1250, COSM1285, COSM1289, COSM1294, COSM1326, COSM1327, COSM1332, COSM21976, COSM23419, COSM36291, COSM36292, COSM36293, COSM36294, COSM36295, COSM36297, COSM36298, COSM36299, COSM36300, COSM36301, COSM36303, COSM36304, COSM36306, COSM36307, COSM36308, COSM36309, COSM36310, COSM36311, COSM36312, COSM36314, COSM36315, COSM36317, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D579del, p.E554_D572del, p.E554_E562del, p.E554_I571del, p.E554_K558del, p.E561_P577del, p.H580>LDPTQLPYD, p.K550_K558del, p.K550_W557>IR, p.K558>NP, p.K558_E561>NP, p.K558_Q575del, p.K558_V559>N, p.K558_V559del, p.L576_P577insPT, p.L576_P577insPTQL, p.L576del, p.M552_D572del, p.M552_E554>K, p.M552_E554del, p.M552_Q556del, p.M552_W557del, p.N564_P573>T, p.P551_E554del, p.P551_Q556del, p.Q556_L576del, p.Q556_P573del, p.Q556_V559del, p.Q556_V560del, p.Q556_W557del, p.V559_E561del, p.V559_I571del, p.V559_L576del, p.V559_V560del, p.V559del, p.V560_L576del, p.W557_E561del, p.W557_E562del, p.W557_K558del, p.W557_V559>C, p.W557_V559>F, p.W557_V559del, p.Y503_F504insAY, p.Y553_E561>LK, p.Y553_K558del, p.Y553_W557del, p.Y570_L576del | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Unknown | 4:54726019-54726020, 4:54727416-54727442, 4:54727419-54727430, 4:54727419-54727436, 4:54727422-54727430, 4:54727422-54727436, 4:54727422-54727439, 4:54727422-54727484, 4:54727423-54727428, 4:54727425-54727439, 4:54727425-54727442, 4:54727428-54727442, 4:54727428-54727454, 4:54727428-54727481, 4:54727428-54727484, 4:54727434-54727439, 4:54727434-54727445, 4:54727434-54727448, 4:54727434-54727487, 4:54727434-54727496, 4:54727437-54727442, 4:54727437-54727445, 4:54727437-54727451, 4:54727437-54727454, 4:54727438-54727443, 4:54727439-54727444, 4:54727440-54727445, 4:54727440-54727493, 4:54727441-54727442, 4:54727443-54727445, 4:54727443-54727448, 4:54727443-54727451, 4:54727443-54727481, 4:54727443-54727496, 4:54727446-54727496, 4:54727449-54727499, 4:54727459-54727485, 4:54727476-54727496, 4:54727494-54727496, 4:54727503-54727505, | Info_not_available | Info_not_available | 19411681 |
| KIT | 6342 | COSM1294, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del | Deletion - In frame | 4:54727503-54727505, | Info_not_available | Info_not_available | 9797363 |
| KIT | 6342 | COSM19023, COSM24879, COSM28677, COSM33992, COSM34122, COSM34123, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419del, p.D816V, p.G592_K593ins21, p.N822K, p.Q556_K558>HPCR, p.Y418_D419>G | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727436-54727441, 4:54727823-54727824, | Info_not_available | Info_not_available | 19458628 |
| KIT | 6342 | COSM1192, COSM1196, COSM1197, COSM1217, COSM1218, COSM1248, COSM1281, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del, p.V555_I563del, p.V555_Y570del, p.V559_V560del, p.V569_Q575del, p.W557_K558del, p.W557_V559del | Deletion - In frame | 4:54727428-54727442, 4:54727431-54727457, 4:54727431-54727478, 4:54727437-54727442, 4:54727437-54727445, 4:54727443-54727448, 4:54727473-54727493, | Info_not_available | Info_not_available | 9881963 |
| KIT | 6342 | COSM12444, COSM1342, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_G565>R, p.Y503_F504insAY | Complex - deletion inframe, Insertion - In frame | Info_not_available | Info_not_available | Info_not_available | 19509176 |
| KIT | 6342 | COSM1177, COSM1188, COSM1211, COSM1217, COSM1258, COSM1327, COSM1328, COSM1329, COSM1330, COSM1332, COSM1333, COSM1334, COSM1365, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del, p.M552_Q556del, p.M552_W557del, p.V560E, p.V560del, p.W557_E561del, p.W557_I571del, p.W557_K558del, p.Y553V, p.Y568_T574del | Deletion - In frame, Substitution - Missense | 4:54727421-54727438, 4:54727422-54727436, 4:54727423-54727440, 4:54727425-54727426, 4:54727429-54727443, 4:54727435-54727449, 4:54727436-54727441, 4:54727436-54727480, 4:54727437-54727442, 4:54727437-54727451, 4:54727447-54727448, 4:54727447-54727449, 4:54727470-54727490, | Info_not_available | Info_not_available | 9916918 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19541349 |
| KIT | 6342 | COSM1312, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816F | Substitution - Missense | 4:54733154-54733155, | Info_not_available | Info_not_available | 9990072 |
| KIT | 6342 | COSM12434, COSM12438, COSM12444, COSM12649, COSM19016, COSM33696, COSM33697, COSM33698, | soft_tissue | gastrointestinal_stromal_tumour | p.E554E, p.L472L, p.M552_Y553del, p.V555_Q556del, p.V560D, p.W557G, p.W557_K558>F, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 19572146 |
| KIT | 6342 | COSM12692, COSM12697, COSM18891, COSM19016, COSM22425, COSM24707, COSM24854, COSM27125, COSM29001, COSM29347, COSM29867, COSM33953, COSM33954, COSM33956, COSM33960, COSM33961, COSM33962, COSM6136, | soft_tissue | gastrointestinal_stromal_tumour | p.?_?ins?, p.D579del, p.E554_K558del, p.K550_W557>IL, p.K550_W557del, p.K558N, p.K558_V559del, p.K642E, p.M552_Y553del, p.N567_N576>KE, p.P551_Q556>T, p.Q556_W557del, p.V559G, p.V560D, p.V560E, p.V560_I571del, p.W557F, p.Y823D | Complex - deletion inframe, Deletion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 19585585 |
| KIT | 6342 | COSM33906, | soft_tissue | gastrointestinal_stromal_tumour | p.P585_R586ins12 | Insertion - In frame | 4:54727522-54727523, | Info_not_available | Info_not_available | 19593621 |
| KIT | 6342 | COSM29014, COSM36322, COSM36323, COSM36326, COSM36327, COSM36328, COSM36329, COSM36330, COSM36331, COSM36332, COSM36333, COSM36334, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419_R420>FLNM, p.D419_R420insFF, p.D419_R420insFL, p.D419_V422>YSS, p.D419del, p.D816>GP, p.F584_P585ins15, p.P585_R586ins13, p.T417_D419>L, p.Y418>GFF, p.Y418_D419>T, p.Y418_D419del | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame | 4:54723604-54723609, 4:54723607-54723609, 4:54723609-54723610, 4:54727520-54727521, 4:54727523-54727524, | Info_not_available | Info_not_available | 19603346 |
| KIT | 6342 | COSM12435, COSM1361, COSM29322, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D, p.W557R, p.W557_K558del | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19606013 |
| KIT | 6342 | COSM34126, COSM34127, COSM34128, | soft_tissue | gastrointestinal_stromal_tumour | p.E583_F584insDHKWE, p.F591_G592ins14, p.H580_K581insPTQLPYDH | Insertion - In frame | 4:54727508-54727509, | Info_not_available | Info_not_available | 19614767 |
| KIT | 6342 | COSM34145, COSM34146, COSM34147, COSM34148, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.T417_D419>G, p.T417_D419>RG, p.T417_D419>S, p.T417_V422>SRIL | Complex - deletion inframe | 4:54723601-54723616, 4:54723602-54723609, 4:54723603-54723608, | Info_not_available | Info_not_available | 19644024 |
| KIT | 6342 | COSM36872, | skin | malignant_melanoma | p.P551_K558del | Deletion - In frame | 4:54727418-54727441, | Info_not_available | Info_not_available | 19652585 |
| KIT | 6342 | COSM21998, COSM28677, COSM28678, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A814S, p.D816V, p.D816Y | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19669220 |
| KIT | 6342 | COSM12435, COSM12444, COSM18830, COSM19016, | soft_tissue | gastrointestinal_stromal_tumour | p.P585_R586ins12, p.V559D, p.V560D, p.Y503_F504insAY | Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19672856 |
| KIT | 6342 | COSM12445, COSM12453, COSM12697, COSM18891, COSM19016, COSM27905, COSM28677, COSM36068, COSM36069, COSM36070, | eye, skin | malignant_melanoma | p.D816V, p.K642E, p.L576P, p.N566_D572del, p.N566_T574del, p.N655K, p.N822I, p.V559A, p.V559G, p.V560D | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19718013 |
| KIT | 6342 | COSM12445, | soft_tissue | gastrointestinal_stromal_tumour | p.L576P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19723893 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19729359 |
| KIT | 6342 | COSM12435, COSM12444, COSM12449, COSM12716, COSM29319, COSM29321, COSM29347, COSM33953, COSM34153, COSM34154, COSM6136, | soft_tissue | gastrointestinal_stromal_tumour | p.?_?ins?, p.D579del, p.F508_K509insFAF, p.K550_Q556del, p.M552_Y553del, p.R586_N587ins13, p.V559D, p.V560del, p.W557_K558del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 19795448 |
| KIT | 6342 | COSM1289, | skin | malignant_melanoma | p.L576del | Deletion - In frame | 4:54727494-54727496, | Info_not_available | Info_not_available | 19802003 |
| KIT | 6342 | COSM1256, | thymus | thymic_carcinoma | p.V560del | Deletion - In frame | 4:54727446-54727448, | Info_not_available | Info_not_available | 19861435 |
| KIT | 6342 | COSM1326, COSM219786, COSM219787, COSM21979, COSM22395, COSM29014, COSM30708, COSM5702501, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A502_Y503insSA, p.D419del, p.D816I, p.F508_K509insNFAF, p.T417_D419>Y, p.Y418_D419insFF, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54723601-54723607, 4:54723606-54723607, 4:54723607-54723609, 4:54726015-54726016, 4:54726017-54726018, 4:54726019-54726020, 4:54726034-54726035, 4:54733154-54733155, | Info_not_available | Info_not_available | 19865100 |
| KIT | 6342 | COSM41198, | soft_tissue | gastrointestinal_stromal_tumour | p.H580_K581ins10 | Insertion - In frame | 4:54727508-54727509, | Info_not_available | Info_not_available | 19894031 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12445, COSM12453, COSM12651, COSM1361, COSM18891, COSM19016, COSM19023, COSM21956, COSM22425, COSM24822, COSM25063, COSM25075, COSM27125, COSM27576, COSM28480, COSM28597, COSM29012, COSM29319, COSM29321, COSM29322, COSM29346, COSM29347, COSM29353, COSM29360, COSM29862, COSM29870, COSM33953, COSM33962, COSM36177, COSM36939, COSM36940, COSM36941, COSM36942, COSM36943, COSM36944, COSM36994, COSM36995, COSM36996, COSM36997, COSM36999, COSM41586, COSM41587, COSM41588, COSM41589, COSM6136, | soft_tissue | gastrointestinal_stromal_tumour | p.?_?ins?, p.D579del, p.E554_W557del, p.G498S, p.K550_K558del, p.K550_Q556del, p.K550_V555del, p.K550_V559del, p.K550_W557del, p.K550_Y568del, p.K558_I563del, p.K558_V559del, p.K642E, p.L576P, p.M552_D572del, p.M552_E554del, p.M552_K558del, p.M552_Y553del, p.N822K, p.P551_M552del, p.P551_V555del, p.P551_V569del, p.P577_H580del, p.Q556_K558del, p.Q556_N564del, p.Q556_V559del, p.Q575_D579del, p.T574_K581del, p.V457M, p.V555_W557del, p.V559A, p.V559D, p.V559_D572del, p.V559_T574del, p.V560D, p.V560E, p.V560_E561del, p.V560_L576del, p.V560del, p.W557G, p.W557R, p.W557_K558del, p.W557_N564del, p.Y503_F504insAY, p.Y553_E561del, p.Y553_Q556del, p.Y553_W557del, p.Y578_D579del | Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 19900103 |
| KIT | 6342 | COSM12435, COSM12438, COSM12444, COSM1361, COSM18694, COSM22425, COSM33734, COSM36274, COSM36275, COSM36276, COSM36277, COSM36279, COSM36280, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580ins10, p.G664_G676del, p.H580_K581insPTQLPYDH, p.H580_K581insYDH, p.M552_Q556del, p.P585_R586ins14, p.Q556_I563del, p.V555_P573del, p.V555_Q556del, p.V559D, p.V560E, p.W557R, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19943934 |
| KIT | 6342 | COSM12445, | NS | malignant_melanoma | p.L576P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 19996208 |
| KIT | 6342 | COSM24708, COSM29870, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_K558del, p.T670I | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20028860 |
| KIT | 6342 | COSM18896, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_E562del | Deletion - In frame | 4:54727441-54727455, | Info_not_available | Info_not_available | 20032375 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20038218 |
| KIT | 6342 | COSM12444, COSM1355, COSM18891, COSM24707, COSM29350, COSM36177, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.K642E, p.M552_W557del, p.Q556_K558del, p.Y503_F504insAY, p.Y823D | Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 20043176 |
| KIT | 6342 | COSM1249, COSM41627, | soft_tissue | gastrointestinal_stromal_tumour | p.V559_G565del, p.V559_V569del | Deletion - In frame | 4:54727443-54727463, | Info_not_available | Info_not_available | 20079191 |
| KIT | 6342 | COSM12445, COSM24706, COSM28677, COSM41632, | skin | malignant_melanoma | p.D816V, p.D820Y, p.L576P, p.P585_R586insYDHKWEFP | Insertion - In frame, Substitution - Missense | 4:54727522-54727523, | Info_not_available | Info_not_available | 20088873 |
| KIT | 6342 | COSM29347, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 20098451 |
| KIT | 6342 | COSM1355, COSM24834, COSM29867, COSM29876, COSM36317, COSM46476, COSM46513, COSM46514, COSM46515, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.?del, p.K558_V560del, p.Q549_E554del, p.Q556_V560del, p.Q556_W557del, p.V559_S590del | Deletion - In frame, Unknown | Info_not_available | Info_not_available | Info_not_available | 20133985 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20153505 |
| KIT | 6342 | COSM1256, | soft_tissue | gastrointestinal_stromal_tumour | p.V560del | Deletion - In frame | 4:54727446-54727448, | Info_not_available | Info_not_available | 20180082 |
| KIT | 6342 | COSM12445, COSM12453, COSM18891, COSM24706, COSM28677, COSM43392, | skin | malignant_melanoma | p.(550_592)ins7, p.D816V, p.D820Y, p.K642E, p.L576P, p.V559A | Insertion - In frame, Substitution - Missense | 4:54727416-54727417, | Info_not_available | Info_not_available | 20372153 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20387067 |
| KIT | 6342 | COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 20407778 |
| KIT | 6342 | COSM27127, COSM28677, COSM28678, COSM52937, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816H, p.D816V, p.D816Y, p.R815_D816ins? | Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20434205 |
| KIT | 6342 | COSM19023, COSM28677, COSM28678, COSM51500, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V, p.D816Y, p.N822K, p.T417_Y418del | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20435347 |
| KIT | 6342 | COSM27126, | soft_tissue | gastrointestinal_stromal_tumour | p.P551_E554del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 20442644 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12445, COSM12453, COSM1361, COSM18680, COSM19016, COSM22425, COSM24703, COSM24706, COSM24825, COSM25026, COSM25032, COSM25036, COSM27080, COSM27121, COSM27126, COSM29319, COSM29321, COSM29322, COSM29343, COSM29347, COSM29350, COSM29870, COSM33960, COSM33961, COSM41586, COSM51530, COSM51531, COSM51532, COSM51533, COSM51534, COSM51535, COSM51536, COSM51537, COSM51538, COSM51539, COSM51540, COSM51541, COSM52943, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insIDPTQLPYD, p.D579_H580insTQLPYD, p.D579del, p.D820Y, p.E554_E561del, p.E554_V559del, p.H580_K581insDPTQLPYDH, p.K550_E554del, p.K550_K558del, p.K550_Q556del, p.K558_T574>NRS, p.L576P, p.M552_W557del, p.N567_L576>I, p.N567_Y578>ED, p.P551_E554del, p.P551_Q556>T, p.P573_T574insDP, p.P585_R586ins13, p.Q556_K558>PT, p.Q556_V559>H, p.R588_L589ins13, p.V555_K558del, p.V559A, p.V559D, p.V559_D572del, p.V559_E561del, p.V560D, p.V560E, p.V560_I571del, p.V560del, p.V654E, p.W557G, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_V559>F, p.Y503_F504insAY, p.Y553_L576>NCLHLYSSQ, p.Y570_L576del, p.Y578_D579insPTQLPY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20470368 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12445, COSM12697, COSM18680, COSM19016, COSM23419, COSM28482, COSM29322, COSM29878, COSM53312, | soft_tissue | gastrointestinal_stromal_tumour | p.A829P, p.K558_V559>N, p.L576P, p.M552_W557>Z, p.P585_R586ins12, p.V559D, p.V559G, p.V560D, p.W557G, p.W557_K558del, p.W557_V559>F, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20548289 |
| KIT | 6342 | COSM19023, COSM24838, COSM28677, COSM28678, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V, p.D816Y, p.N822K, p.V560G | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20551067 |
| KIT | 6342 | COSM24838, COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V, p.V560G | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20553795 |
| KIT | 6342 | COSM12453, COSM18891, COSM19016, COSM27125, COSM29322, COSM85746, COSM85747, COSM85748, | soft_tissue | gastrointestinal_stromal_tumour | p.F591_G592ins19, p.K558_V559del, p.K642E, p.R588_L589ins21, p.V559A, p.V560D, p.W557C, p.W557_K558del | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20564079 |
| KIT | 6342 | COSM1226, COSM1651754, COSM1651755, | soft_tissue | gastrointestinal_stromal_tumour | p.Q556_I563>L, p.Q556fs*3, p.W557_V559>F | Complex - deletion inframe, Deletion - Frameshift | 4:54727435-54727442, 4:54727435-54727455, 4:54727438-54727443, | Info_not_available | Info_not_available | 20601955 |
| KIT | 6342 | COSM1333, COSM85978, | soft_tissue | gastrointestinal_stromal_tumour | p.Q575_W582>L, p.V560E | Complex - deletion inframe, Substitution - Missense | 4:54727447-54727448, | Info_not_available | Info_not_available | 20606738 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM1357, COSM1361, COSM19016, COSM25036, COSM29001, COSM29004, COSM29322, COSM33962, COSM85774, COSM85775, COSM85776, COSM85777, COSM85778, COSM85779, COSM85780, COSM85781, COSM85782, COSM85783, COSM85784, COSM85785, COSM85786, COSM85789, COSM85790, | soft_tissue | gastrointestinal_stromal_tumour | p.(P551_V555)ins?, p.D579N, p.E554_K558del, p.E554_N564>D, p.E554_V555del, p.E562V, p.K550_E554del, p.K550_W557del, p.K558>NP, p.K558_D572del, p.K558del, p.N566D, p.N566Y, p.N566_P573del, p.Q556_L576del, p.Q575_W582>R, p.V555L, p.V555_Q575del, p.V559D, p.V559_G565del, p.V560D, p.W557G, p.W557R, p.W557_K558>Q, p.W557_K558del, p.Y503_F504insAY | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20651400 |
| KIT | 6342 | COSM24838, COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V, p.V560G | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20685234 |
| KIT | 6342 | COSM1355, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 20693432 |
| KIT | 6342 | COSM12435, COSM12444, COSM12445, COSM12453, COSM1361, COSM19016, COSM24857, COSM24859, COSM25032, COSM25035, COSM27121, COSM27122, COSM27125, COSM29001, COSM29317, COSM29322, COSM36177, COSM87536, COSM87537, COSM87538, COSM87539, COSM87540, COSM87541, COSM87542, COSM87543, | soft_tissue | gastrointestinal_stromal_tumour | p.D572G, p.E554_K558del, p.K558_P573del, p.K558_V559>I, p.K558_V559del, p.K581_W582insPYDHK, p.L576P, p.P551_M552>L, p.P551_V559del, p.Q556_K558del, p.Q556_V559>H, p.T574_F584del, p.V559A, p.V559D, p.V559del, p.V560D, p.V560_Y568del, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_V560>C, p.W557del, p.Y503_F504insAY, p.Y553_K558del, p.Y578del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20718716 |
| KIT | 6342 | COSM27074, COSM29322, COSM36317, COSM86952, COSM88182, COSM88183, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.W557?, p.W557_K558del, p.W557_V559del | Deletion - In frame, Unknown | Info_not_available | Info_not_available | Info_not_available | 20730857 |
| KIT | 6342 | COSM19023, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20806365 |
| KIT | 6342 | COSM12435, COSM12445, COSM12697, COSM18677, COSM18680, COSM18891, COSM19011, COSM19014, COSM19016, COSM25034, COSM25035, COSM27125, COSM29001, COSM29012, COSM29322, COSM29356, COSM29863, COSM29870, COSM29874, COSM29876, COSM34207, COSM36317, COSM36943, COSM46513, COSM86952, COSM86956, COSM86957, | soft_tissue | gastrointestinal_stromal_tumour | p.(449_514)?, p.?, p.E554_K558>G, p.E554_K558del, p.K550_K558del, p.K558_V559del, p.K558_V560del, p.K642E, p.L576P, p.P551_V559del, p.P551_Y553del, p.Q556_K558>R, p.Q556_N564>H, p.Q556_T574del, p.Q575_K581del, p.V559D, p.V559G, p.V559_N566>D, p.V559del, p.V560D, p.V560_L576del, p.W557_I571del, p.W557_K558del, p.W557_V559>F, p.Y553_E561del | Complex - deletion inframe, Deletion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 20823768 |
| KIT | 6342 | COSM1163, COSM1164, COSM1176, COSM1177, COSM1199, COSM1201, COSM1217, COSM1254, COSM1258, COSM1270, COSM1289, COSM1294, COSM1296, COSM1326, COSM1332, COSM24748, COSM27069, COSM29442, COSM36311, COSM36317, COSM96863, COSM96865, COSM96866, COSM96868, COSM96869, COSM96870, COSM96873, COSM96875, COSM96876, COSM96880, COSM96881, COSM96884, COSM96886, COSM96887, COSM96891, COSM96945, COSM96946, COSM96947, COSM96948, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D579_H580insSYD, p.D579del, p.E554_N564del, p.G510del, p.H580_K581insHPYD, p.I563_L576del, p.K550_K558del, p.K550_V555>I, p.K550fs*6, p.K558_L576>NV, p.K558_V560>N, p.L576del, p.M552_E554>K, p.M552_E561>K, p.M552_Q556>K, p.M552_T574>TESA, p.M552_W557del, p.M552_Y553>N, p.M552_Y553del, p.N564_L576del, p.P551_M552>L, p.Q575_P577>T, p.Q575del, p.V555_K558del, p.V555_N566>D, p.V555_Q556del, p.V559K, p.V559_E561del, p.V560del, p.W557_E561del, p.W557_K558>C, p.W557_K558>E, p.W557_K558>SS, p.W557_K558del, p.W557_Q575del, p.Y503_F504insAY, p.Y553_V559>E | Complex - compound substitution, Complex - deletion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | 4:54726019-54726020, 4:54726038-54726040, 4:54727416-54727440, 4:54727416-54727442, 4:54727417-54727431, 4:54727420-54727422, 4:54727421-54727426, 4:54727421-54727438, 4:54727423-54727425, 4:54727423-54727428, 4:54727423-54727434, 4:54727423-54727449, 4:54727423-54727488, 4:54727425-54727445, 4:54727428-54727460, 4:54727431-54727436, 4:54727431-54727442, 4:54727432-54727464, 4:54727436-54727492, 4:54727437-54727440, 4:54727437-54727442, 4:54727437-54727451, 4:54727438-54727441, 4:54727439-54727442, 4:54727442-54727447, 4:54727442-54727494, 4:54727443-54727445, 4:54727444-54727452, 4:54727447-54727449, 4:54727455-54727496, 4:54727458-54727496, 4:54727491-54727493, 4:54727491-54727497, 4:54727494-54727496, 4:54727495-54727497, 4:54727503-54727505, 4:54727505-54727506, 4:54727507-54727508, | Info_not_available | Info_not_available | 20861712 |
| KIT | 6342 | COSM19023, COSM28677, COSM88206, COSM88207, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V, p.N822K, p.T417_D419>F, p.V540L | Complex - deletion inframe, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 20890793 |
| KIT | 6342 | COSM98379, | thymus | thymic_carcinoma | p.P577_D579del | Deletion - In frame | 4:54727498-54727506, | Info_not_available | Info_not_available | 20970876 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12445, COSM12453, COSM12697, COSM12702, COSM1337, COSM1342, COSM1361, COSM18680, COSM18687, COSM18740, COSM19015, COSM19016, COSM19023, COSM19124, COSM22425, COSM24702, COSM24822, COSM24834, COSM25024, COSM25059, COSM27071, COSM27074, COSM27080, COSM27121, COSM27125, COSM27126, COSM29001, COSM29317, COSM29322, COSM29347, COSM29870, COSM29873, COSM29876, COSM30607, COSM33953, COSM34154, COSM34174, COSM34176, COSM36317, COSM36994, COSM41668, COSM51530, COSM51538, COSM85777, COSM85778, COSM85779, COSM85785, COSM87537, COSM98380, COSM98388, COSM98389, COSM98390, COSM98391, COSM98392, COSM98393, COSM98394, COSM98395, COSM98396, COSM98398, COSM98399, COSM98400, COSM98401, COSM98402, COSM98403, COSM98404, COSM98405, COSM98406, COSM98407, COSM98408, COSM98409, COSM98410, COSM98411, COSM98412, COSM98413, COSM98414, COSM98421, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D579_H580insDPTQLPYD, p.D579_H580insIDPTQLPYD, p.D579del, p.E554_K558del, p.E554_V555del, p.E554_W557del, p.F591_G592ins13, p.F591_G592ins15, p.F591_G592ins17, p.G565R, p.H580_K581insDPTQLPYDH, p.I563_P573del, p.I571_L576del, p.K550_E554>I, p.K550_K558del, p.K550_V555>I, p.K550_W557>QR, p.K558_G565>R, p.K558_V559>TG, p.K558_V559del, p.K558_V560>I, p.K558_V560>R, p.K558_V560del, p.K581_W582insYDHK, p.L576P, p.L576del, p.L589_S590ins13, p.L589_S590ins15, p.M552V, p.M552_Q556>K, p.M552_V555del, p.M552_Y553del, p.N564_L576del, p.N566_P573del, p.N587_R588ins15, p.N822K, p.P551_E554del, p.P551_M552>L, p.P551_Q556del, p.P551_V569>L, p.P573_T574insYIDP, p.P577S, p.P577_Y578insDPTQLP, p.P577_Y578insQLP, p.Q556L, p.Q556_L576>H, p.Q556_V559del, p.Q556_V560>H, p.Q556_V560del, p.R586G, p.R586_N587ins13, p.R586_N587ins14, p.V555_Q575del, p.V555_V559>G, p.V555_V559del, p.V559A, p.V559D, p.V559G, p.V559_E561del, p.V559_G565del, p.V559_V560del, p.V559del, p.V560D, p.V560E, p.V560_N566del, p.W557G, p.W557R, p.W557_E561del, p.W557_K558>E, p.W557_K558del, p.W557_Q575del, p.W557_V559>C, p.W557_V559>F, p.W557_V559del, p.Y503_F504insAY, p.Y553_E554del, p.Y568D, p.Y570_P573>GS | Complex - compound substitution, Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21064103 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21108325 |
| KIT | 6342 | COSM53306, | skin | malignant_melanoma | p.A502_Y503insFA | Insertion - In frame | 4:54726017-54726018, | Info_not_available | Info_not_available | 21131919 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21134978 |
| KIT | 6342 | COSM12453, COSM36070, | skin | malignant_melanoma | p.N822I, p.V559A | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21159146 |
| KIT | 6342 | COSM1192, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del | Deletion - In frame | 4:54727428-54727442, | Info_not_available | Info_not_available | 21175497 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21233837 |
| KIT | 6342 | COSM1217, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del | Deletion - In frame | 4:54727437-54727442, | Info_not_available | Info_not_available | 21237497 |
| KIT | 6342 | COSM12453, COSM130412, COSM29862, COSM33736, COSM34128, COSM98406, | soft_tissue | gastrointestinal_stromal_tumour | p.F591_G592ins14, p.M552T, p.V559A, p.W557_V560del, p.Y553_Q556del, p.Y568D | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21244575 |
| KIT | 6342 | COSM1203, COSM1217, COSM1226, COSM12444, COSM12445, COSM1256, COSM12697, COSM1326, COSM133635, COSM133636, COSM133637, COSM133638, COSM133639, COSM133640, COSM133641, COSM133642, COSM133643, COSM133644, COSM1361, COSM18680, COSM18891, COSM19016, COSM24706, COSM27071, COSM27121, COSM28613, COSM29001, COSM29322, COSM29870, COSM30608, COSM41587, | soft_tissue | gastrointestinal_stromal_tumour | p.D820Y, p.E554_K558del, p.K550_K558del, p.K550_V555del, p.K558_V560>Q, p.K642E, p.L576P, p.M552_W557>R, p.P551_E554>Q, p.Q556_D572del, p.Q556_V559>H, p.Q556_V559del, p.Q556_W557>R, p.V555_P573del, p.V559G, p.V559_V560del, p.V560D, p.V560_I571del, p.V560del, p.V569_L576del, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_Q575del, p.W557_V559>F, p.Y503_F504insAY, p.Y553S | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, 4:54727423-54727437, 4:54727431-54727487, 4:54727433-54727444, 4:54727435-54727437, 4:54727436-54727444, 4:54727437-54727442, 4:54727437-54727493, 4:54727438-54727443, 4:54727446-54727448, 4:54727447-54727482, 4:54727473-54727496, | Info_not_available | Info_not_available | 21286759 |
| KIT | 6342 | COSM1220, COSM1258, COSM133669, | soft_tissue | gastrointestinal_stromal_tumour | p.N649_H650insN, p.V560del, p.W557del | Deletion - In frame, Insertion - In frame | 4:54727437-54727439, 4:54727447-54727449, 4:54728078-54728079, | Info_not_available | Info_not_available | 21295327 |
| KIT | 6342 | COSM1174, COSM1204, COSM1205, COSM1212, COSM1256, COSM1285, COSM1288, COSM1355, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.P551_V555>L, p.Q556_D572>H, p.Q556_L576del, p.Q556_V560del, p.T574_Q575ins12, p.V560del, p.Y570_L576del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Unknown | 4:54727420-54727431, 4:54727434-54727448, 4:54727434-54727496, 4:54727436-54727483, 4:54727446-54727448, 4:54727476-54727496, 4:54727489-54727490, | Info_not_available | Info_not_available | 10086344 |
| KIT | 6342 | COSM12444, COSM133674, COSM133675, COSM133676, COSM133681, COSM133682, COSM133683, COSM133684, COSM133691, COSM133694, COSM133695, COSM133696, COSM133697, COSM133698, COSM133702, COSM133710, COSM133711, COSM133712, COSM1339, COSM1357, COSM1361, COSM18679, COSM24858, COSM25036, COSM27071, COSM27122, COSM27125, COSM29322, COSM29347, COSM29350, COSM29867, COSM29876, COSM30608, COSM33738, COSM33953, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insLNTQPLYD, p.D579del, p.E554_V560>D, p.E562_Y578>DF, p.E562del, p.G663E, p.H802Y, p.I563_L576>F, p.K484_G487del, p.K550_E554del, p.K550_E561>RLLS, p.K550_V559>L, p.K558>NP, p.K558E, p.K558_G565>RR, p.K558_V559del, p.K558_V560del, p.M552_K558del, p.M552_W557del, p.M552_Y553del, p.P577del, p.Q556_D572>H, p.Q556_D572del, p.Q556_W557del, p.V559_N564>D, p.V559_N567>DS, p.V559_V560del, p.W557R, p.W557_K558>KE, p.W557_K558>S, p.W557_K558del, p.Y503_F504insAY, p.Y553_K558>F, p.Y553_K558del | Complex - compound substitution, Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727454-54727501, 4:54727455-54727494, 4:54727506-54727507, | Info_not_available | Info_not_available | 21326036 |
| KIT | 6342 | COSM1157, COSM1159, COSM1160, COSM1161, COSM1164, COSM1169, COSM1171, COSM1172, COSM1176, COSM1189, COSM1192, COSM1198, COSM1206, COSM1207, COSM1208, COSM1215, COSM1217, COSM1220, COSM1223, COSM1224, COSM1226, COSM1230, COSM1233, COSM1234, COSM1242, COSM1245, COSM1247, COSM1250, COSM1263, COSM1294, COSM1332, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.E554_K558del, p.E561del, p.K550_K558del, p.K550_P551del, p.K550_Q556>II, p.K550_V555>I, p.K550_V559del, p.K558>NP, p.K558_V560>M, p.K558_V560del, p.P551_E554del, p.P551_M552>L, p.P551_V555del, p.P551del, p.Q556_E561>HH, p.Q556_E561del, p.Q556_K558>H, p.Q556_V560>F, p.V555_V559del, p.V559_E561del, p.V559del, p.W557_E561del, p.W557_K558>FP, p.W557_K558del, p.W557_V559>C, p.W557_V559>F, p.W557_V560>F, p.W557_V560del, p.W557del, p.Y553_Q556del | Complex - compound substitution, Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame | 4:54727416-54727421, 4:54727416-54727436, 4:54727416-54727445, 4:54727417-54727431, 4:54727419-54727421, 4:54727419-54727430, 4:54727419-54727433, 4:54727420-54727422, 4:54727425-54727436, 4:54727428-54727442, 4:54727431-54727445, 4:54727434-54727446, 4:54727434-54727451, 4:54727436-54727442, 4:54727437-54727439, 4:54727437-54727442, 4:54727437-54727448, 4:54727437-54727451, 4:54727438-54727442, 4:54727438-54727443, 4:54727438-54727446, 4:54727439-54727444, 4:54727440-54727448, 4:54727441-54727448, 4:54727442-54727442, 4:54727443-54727445, 4:54727443-54727451, 4:54727449-54727451, 4:54727503-54727505, | Info_not_available | Info_not_available | 10485475 |
| KIT | 6342 | COSM12434, COSM12444, COSM143815, COSM143816, COSM18891, COSM24709, COSM29322, COSM29869, COSM85779, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_N567del, p.K558_E562del, p.K642E, p.R588_L589ins12, p.V559_G565del, p.V654A, p.W557G, p.W557_K558del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21334201 |
| KIT | 6342 | COSM1147, COSM1148, COSM1149, COSM1150, COSM1151, COSM1152, COSM1153, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419_L421>F, p.D419_R420>SSDG, p.T417_D419>I, p.T417_D419>N, p.T417_D419>RG, p.T417_D419>V, p.T417_R420>R | Complex - deletion inframe, Complex - insertion inframe | 4:54723601-54723609, 4:54723602-54723608, 4:54723602-54723609, 4:54723602-54723610, 4:54723607-54723610, 4:54723607-54723613, | Info_not_available | Info_not_available | 10554798 |
| KIT | 6342 | COSM18891, COSM19023, COSM86958, | skin | malignant_melanoma | p.I817F, p.K642E, p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21356389 |
| KIT | 6342 | COSM1187, COSM1194, COSM1200, COSM1217, COSM1233, COSM1235, COSM1240, COSM1241, COSM1254, COSM1274, COSM1279, COSM1285, COSM1295, | soft_tissue | gastrointestinal_stromal_tumour | p.H580del, p.K558_G565>R, p.K558_V559del, p.K558_V560>I, p.N567_L576>E, p.V555_E562del, p.V555_I571del, p.V559_E561del, p.W557_K558del, p.W557_V559>C, p.Y553_W557del, p.Y568_L576>CV, p.Y570_L576del | Complex - deletion inframe, Deletion - In frame | 4:54727424-54727438, 4:54727430-54727453, 4:54727431-54727481, 4:54727437-54727442, 4:54727439-54727444, 4:54727440-54727445, 4:54727441-54727446, 4:54727441-54727461, 4:54727444-54727452, 4:54727466-54727496, 4:54727471-54727494, 4:54727476-54727496, 4:54727505-54727507, | Info_not_available | Info_not_available | 10665649 |
| KIT | 6342 | COSM29321, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_Q556del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 21358619 |
| KIT | 6342 | COSM1159, COSM1217, COSM1283, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_V559del, p.V569_L576>G, p.W557_K558del | Complex - deletion inframe, Deletion - In frame | 4:54727416-54727445, 4:54727437-54727442, 4:54727474-54727495, | Info_not_available | Info_not_available | 10680889 |
| KIT | 6342 | COSM1326, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 21362052 |
| KIT | 6342 | COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 10702394 |
| KIT | 6342 | COSM12435, COSM12445, COSM12451, COSM12453, COSM130412, COSM133637, COSM133681, COSM1361, COSM143906, COSM143907, COSM143908, COSM143909, COSM143910, COSM143911, COSM19016, COSM19023, COSM21982, COSM24836, COSM25008, COSM25079, COSM27071, COSM29319, COSM29343, COSM30608, COSM41668, COSM51530, COSM85746, COSM85779, COSM86952, COSM87538, COSM98421, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.E554_Y568>D, p.I563_P573del, p.I563_T574del, p.K558E, p.K558_L576>N, p.K558_V560>N, p.L576P, p.M552_E554>K, p.N822K, p.P551_E554>Q, p.P551_Q556del, p.P573L, p.Q556_D572del, p.Q556_V559>HT, p.T574P, p.V559A, p.V559D, p.V559_E561del, p.V559_G565del, p.V559_V560del, p.V560D, p.V560_P573del, p.V560del, p.W557C, p.W557R, p.W557_V560del, p.W557del, p.Y568C, p.Y570_L576del, p.Y578_D579insPY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21387320 |
| KIT | 6342 | COSM1210, COSM1226, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del, p.W557_V559>F | Complex - deletion inframe, Deletion - In frame | 4:54727435-54727440, 4:54727438-54727443, | Info_not_available | Info_not_available | 11023095 |
| KIT | 6342 | COSM1339, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_V560>D | Complex - deletion inframe | Info_not_available | Info_not_available | Info_not_available | 21394667 |
| KIT | 6342 | COSM1226, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_V559>F | Complex - deletion inframe | 4:54727438-54727443, | Info_not_available | Info_not_available | 11063223 |
| KIT | 6342 | COSM12435, COSM12444, COSM12445, COSM12450, COSM12697, COSM133694, COSM1342, COSM1361, COSM1362, COSM144124, COSM144125, COSM144126, COSM144127, COSM144128, COSM144129, COSM144130, COSM144131, COSM144132, COSM144133, COSM144134, COSM144135, COSM18680, COSM18740, COSM18891, COSM19016, COSM19023, COSM24707, COSM24825, COSM24838, COSM25008, COSM27121, COSM27125, COSM28478, COSM28613, COSM28677, COSM29004, COSM29317, COSM29322, COSM29347, COSM29360, COSM29870, COSM30607, COSM36274, COSM51539, COSM87538, COSM98389, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.D816V, p.E554_V559del, p.E561del, p.F591_G592ins15, p.H580_K581insPTQLPYDH, p.I563_T574del, p.K550_K558del, p.K558_G565>R, p.K558_G565del, p.K558_I563del, p.K558_V559del, p.K558del, p.K642E, p.L576P, p.L576_P577insQL, p.L576del, p.N567H, p.N822K, p.P551_V559>I, p.P551_W557>R, p.P577del, p.T574>PQL, p.V555I, p.V559D, p.V559G, p.V559_P573del, p.V559del, p.V560D, p.V560G, p.V569_L576del, p.W557*, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_N564>C, p.W557_V559>C, p.W557_V559>F, p.W557del, p.Y503_F504insAY, p.Y553_D572del, p.Y553_N564>L, p.Y553_V555del, p.Y568_Q575>E, p.Y578_D579insPTQLPY, p.Y823D | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 21427092 |
| KIT | 6342 | COSM1158, COSM1218, COSM1235, COSM1236, COSM1247, COSM1291, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_V555del, p.K558_G565del, p.K558_V559del, p.P577_Y578del, p.V559del, p.W557_V559del | Deletion - In frame | 4:54727416-54727433, 4:54727437-54727445, 4:54727440-54727445, 4:54727440-54727463, 4:54727443-54727445, 4:54727497-54727502, | Info_not_available | Info_not_available | 11127756 |
| KIT | 6342 | COSM19023, COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V, p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21429396 |
| KIT | 6342 | COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 11376557 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM18891, COSM19016, COSM36317, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.K642E, p.V559D, p.V560D, p.W557G, p.Y503_F504insAY | Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21435173 |
| KIT | 6342 | COSM1156, COSM1180, COSM1181, | soft_tissue | gastrointestinal_stromal_tumour | p.M552_E554del, p.M552_W557del, p.Q549_V555>I | Complex - deletion inframe, Deletion - In frame | 4:54727322-54727431, 4:54727422-54727430, 4:54727422-54727439, | Info_not_available | Info_not_available | 11474281 |
| KIT | 6342 | COSM12435, COSM12453, COSM144145, COSM18889, COSM19016, COSM19023, COSM24834, COSM25063, COSM27127, COSM29001, COSM29004, COSM29319, COSM29322, COSM36317, COSM86952, COSM98380, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D816H, p.E554_K558del, p.I563del, p.K558del, p.M552_V555del, p.N822K, p.P551_V555del, p.Q556_V560del, p.V559A, p.V559D, p.V560A, p.V560D, p.V560del, p.W557_K558del | Deletion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21462307 |
| KIT | 6342 | COSM1179, COSM1247, COSM1294, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.M552_Y553del, p.V559del | Deletion - In frame | 4:54727422-54727427, 4:54727443-54727445, 4:54727503-54727505, | Info_not_available | Info_not_available | 11507701 |
| KIT | 6342 | COSM19023, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21482694 |
| KIT | 6342 | COSM1178, COSM1198, COSM1217, COSM1218, COSM1232, COSM1249, COSM1296, COSM1326, COSM1332, | soft_tissue | gastrointestinal_stromal_tumour | p.H580_K581insHPYD, p.M552_Q556>, p.V555_V559del, p.V559_G565del, p.W557_E561del, p.W557_K558del, p.W557_V559del, p.W557_V560>C, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, 4:54727421-54727435, 4:54727431-54727445, 4:54727437-54727442, 4:54727437-54727445, 4:54727437-54727451, 4:54727439-54727447, 4:54727443-54727463, 4:54727507-54727508, | Info_not_available | Info_not_available | 11688571 |
| KIT | 6342 | COSM96857, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.Y418_R420>V | Complex - deletion inframe | 4:54723603-54723611, | Info_not_available | Info_not_available | 21504297 |
| KIT | 6342 | COSM1169, COSM1170, COSM1175, COSM1185, COSM1186, COSM1190, COSM1202, COSM1217, COSM1222, COSM1226, COSM1228, COSM1229, COSM1238, COSM1246, COSM1248, COSM1256, COSM1259, COSM1267, COSM1285, COSM1298, COSM1300, COSM1301, COSM1320, | soft_tissue | gastrointestinal_stromal_tumour | p.E562_V569>D, p.F584_P585insLPYDHKWEF, p.K558N, p.K558_N564del, p.M552_K558>T, p.M552_V555>I, p.N822K, p.P551_E554>H, p.P551_Q556del, p.P551_V555del, p.P585_R586ins10, p.R588_L589ins17, p.V555_V560del, p.V559_V560del, p.V560E, p.V560del, p.W557_K558>S, p.W557_K558del, p.W557_P573>S, p.W557_V559>F, p.W557_V559>I, p.Y553_K558del, p.Y570_L576del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727419-54727433, 4:54727419-54727436, 4:54727420-54727430, 4:54727423-54727431, 4:54727425-54727442, 4:54727431-54727448, 4:54727437-54727442, 4:54727437-54727443, 4:54727438-54727443, 4:54727438-54727485, 4:54727440-54727460, 4:54727442-54727442, 4:54727443-54727448, 4:54727446-54727448, 4:54727447-54727448, 4:54727454-54727474, 4:54727476-54727496, 4:54727520-54727521, 4:54727523-54727524, 4:54727532-54727533, 4:54733174-54733174, | Info_not_available | Info_not_available | 11719439 |
| KIT | 6342 | COSM18891, COSM214352, | skin | malignant_melanoma | p.?, p.K642E | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21523734 |
| KIT | 6342 | COSM1189, COSM1199, COSM1217, COSM1233, COSM1234, COSM1250, COSM1256, COSM1269, COSM1294, COSM1326, COSM1334, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.K558_V560del, p.N564_P577del, p.V555_K558del, p.V559_E561del, p.V560del, p.W557_K558del, p.W557_V559>C, p.Y503_F504insAY, p.Y553_Q556del, p.Y568_T574del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, 4:54727425-54727436, 4:54727431-54727442, 4:54727437-54727442, 4:54727439-54727444, 4:54727440-54727448, 4:54727443-54727451, 4:54727446-54727448, 4:54727458-54727499, 4:54727470-54727490, 4:54727503-54727505, | Info_not_available | Info_not_available | 11751374 |
| KIT | 6342 | COSM12444, COSM12445, COSM18891, COSM19016, COSM19023, COSM214352, COSM255206, COSM255207, COSM255208, COSM255209, COSM255210, COSM27124, COSM29322, COSM29870, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.?_?ins?, p.K550_K558del, p.K642E, p.L576P, p.N822H, p.N822K, p.V559?, p.V560D, p.W557?, p.W557_K558del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21527588 |
| KIT | 6342 | COSM1217, COSM1234, COSM1245, COSM1305, COSM1306, COSM1332, | soft_tissue | gastrointestinal_stromal_tumour | p.K558>NP, p.K558_V560del, p.K704_N705del, p.S715del, p.W557_E561del, p.W557_K558del | Complex - insertion inframe, Deletion - In frame | 4:54727437-54727442, 4:54727437-54727451, 4:54727440-54727448, 4:54727442-54727442, 4:54729454-54729459, 4:54731329-54731331, | Info_not_available | Info_not_available | 11786393 |
| KIT | 6342 | COSM19023, COSM242459, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insLY, p.N822K | Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21531698 |
| KIT | 6342 | COSM1201, COSM1213, COSM1214, COSM1217, COSM1220, COSM1226, COSM1237, COSM1244, COSM1245, COSM1285, COSM1292, COSM1294, COSM1303, COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.K558>NP, p.K558_D572del, p.K558_V559>N, p.K593_T594ins10, p.L576_P577insQL, p.Q556_V559>HT, p.Q556_V560>H, p.V555_Q556del, p.W557_K558del, p.W557_V559>F, p.W557del, p.Y503_F504insAY, p.Y570_L576del | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, 4:54727431-54727436, 4:54727436-54727445, 4:54727436-54727447, 4:54727437-54727439, 4:54727437-54727442, 4:54727438-54727443, 4:54727440-54727484, 4:54727442-54727442, 4:54727442-54727444, 4:54727476-54727496, 4:54727496-54727497, 4:54727503-54727505, | Info_not_available | Info_not_available | 11850541 |
| KIT | 6342 | COSM19023, COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V, p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21606963 |
| KIT | 6342 | COSM1211, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del | Deletion - In frame | 4:54727436-54727441, | Info_not_available | Info_not_available | 11943962 |
| KIT | 6342 | COSM25024, COSM255209, COSM29004, COSM308536, COSM308537, COSM308539, COSM87538, | soft_tissue | gastrointestinal_stromal_tumour | p.(W557_K558)del, p.?, p.K558del, p.Q556_V560>H, p.Q556del, p.W557del | Complex - deletion inframe, Deletion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21617541 |
| KIT | 6342 | COSM1157, COSM1326, COSM1342, COSM1355, COSM1359, COSM1364, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.K550_K558del, p.K558_G565>R, p.N567_L576>KV, p.Y503_F504insAY, p.Y570_Y578del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Unknown | 4:54726019-54726020, | Info_not_available | Info_not_available | 12000708 |
| KIT | 6342 | COSM96402, COSM96403, COSM96404, COSM96405, COSM96406, | lung | carcinoma | p.C491R, p.F483L, p.P468L, p.T488A, p.V489D | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21626008 |
| KIT | 6342 | COSM21958, | soft_tissue | gastrointestinal_stromal_tumour | p.V560_Y578del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 12004007 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21656905 |
| KIT | 6342 | COSM1262, | soft_tissue | gastrointestinal_stromal_tumour | p.E561del | Deletion - In frame | 4:54727448-54727450, | Info_not_available | Info_not_available | 12190287 |
| KIT | 6342 | COSM12435, COSM12445, COSM18891, COSM19016, COSM24834, COSM25036, COSM27074, COSM27122, COSM27125, COSM28692, | soft_tissue | gastrointestinal_stromal_tumour | p.D820G, p.K550_E554del, p.K558_V559del, p.K642E, p.L576P, p.Q556_V560del, p.V559D, p.V560D, p.W557_V559del, p.Y553_K558del | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21658742 |
| KIT | 6342 | COSM1355, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 12580961 |
| KIT | 6342 | COSM219110, | skin | malignant_melanoma | p.Q575_P577>T | Complex - deletion inframe | 4:54727491-54727499, | Info_not_available | Info_not_available | 21680547 |
| KIT | 6342 | COSM1249, | soft_tissue | gastrointestinal_stromal_tumour | p.V559_G565del | Deletion - In frame | 4:54727443-54727463, | Info_not_available | Info_not_available | 12610329 |
| KIT | 6342 | COSM19023, COSM24877, COSM24879, COSM249775, COSM249776, COSM249777, COSM28677, COSM28678, COSM33992, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419_V422>WSL, p.D419del, p.D816V, p.D816Y, p.N822K, p.T417_D419>S, p.T417_D419>Y, p.T417_R420>HG, p.Y418_D419>G | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21715005 |
| KIT | 6342 | COSM1202, COSM1213, COSM1217, COSM1289, COSM1326, COSM1363, | soft_tissue | gastrointestinal_stromal_tumour | p.L576del, p.P551_E561>Q, p.Q556_V560>H, p.V555_V560del, p.W557_K558del, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, 4:54727431-54727448, 4:54727436-54727447, 4:54727437-54727442, 4:54727494-54727496, | Info_not_available | Info_not_available | 12717247 |
| KIT | 6342 | COSM1244, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_V559>N | Complex - deletion inframe | 4:54727442-54727444, | Info_not_available | Info_not_available | 21725412 |
| KIT | 6342 | COSM12435, COSM12439, COSM12444, COSM12445, COSM12449, COSM12453, COSM19016, COSM21956, COSM22425, COSM24704, COSM24836, COSM24838, COSM25063, COSM27121, COSM27122, COSM29343, COSM29347, COSM29526, COSM29870, COSM33711, COSM33734, COSM33736, COSM33737, COSM33738, COSM33739, COSM33740, COSM33741, COSM33742, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.E562del, p.K550N, p.K550_K558del, p.K558Q, p.K581Q, p.L576P, p.M552T, p.M552_K558del, p.M552_Q556del, p.N564_Y578del, p.P551_V555del, p.Q556P, p.V555_I571del, p.V559A, p.V559D, p.V559F, p.V559I, p.V560D, p.V560E, p.V560G, p.W557_E561del, p.W557_K558del, p.W557del, p.Y503_F504insAY, p.Y553_K558del, p.Y568C, p.Y570_L576del | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 12721243 |
| KIT | 6342 | COSM98392, | soft_tissue | gastrointestinal_stromal_tumour | p.P577S | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21836495 |
| KIT | 6342 | COSM1163, COSM1169, COSM1179, COSM1189, COSM1217, COSM1256, COSM1294, COSM1361, COSM6136, | soft_tissue | gastrointestinal_stromal_tumour | p.?_?ins?, p.D579del, p.K550_K558del, p.M552_Y553del, p.P551_V555del, p.V560del, p.W557R, p.W557_K558del, p.Y553_Q556del | Deletion - In frame, Substitution - Missense, Unknown | 4:54727416-54727442, 4:54727419-54727433, 4:54727422-54727427, 4:54727425-54727436, 4:54727437-54727442, 4:54727446-54727448, 4:54727503-54727505, | Info_not_available | Info_not_available | 12727838 |
| KIT | 6342 | COSM255168, | soft_tissue | schwannoma | p.D579del | Deletion - In frame | 4:54727501-54727503, | Info_not_available | Info_not_available | 21850386 |
| KIT | 6342 | COSM1217, COSM12435, COSM12437, COSM12439, COSM12440, COSM12441, COSM12442, COSM12445, COSM12449, COSM12450, COSM12451, COSM12453, COSM12454, COSM12650, COSM1357, COSM1361, COSM18670, COSM18671, COSM18672, COSM18674, COSM18675, COSM18676, COSM18677, COSM18678, COSM18679, COSM18680, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del, p.I563_N564>MI, p.K558>NP, p.K558_D572del, p.K558_G565>A, p.L576P, p.L576_P577insQL, p.L589_S590ins10, p.Q556_D572del, p.Q556_K558>HT, p.Q556_N564>H, p.Q556_V559>HT, p.V559A, p.V559D, p.V560del, p.W557R, p.W557_K558>S, p.W557_K558del, p.W557_Q575del, p.W557_V559>F, p.W557del, p.Y553N, p.Y553_Q556del, p.Y570_L576del, p.Y578_D579insELPY | Complex - compound substitution, Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727437-54727442, | Info_not_available | Info_not_available | 12918066 |
| KIT | 6342 | COSM29014, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419del | Deletion - In frame | 4:54723607-54723609, | Info_not_available | Info_not_available | 21854415 |
| KIT | 6342 | COSM1217, COSM1226, COSM1282, COSM1326, COSM1355, COSM1356, COSM1357, COSM1362, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.F584_P585insREF, p.K558>NP, p.P551_W557>R, p.V569_D572del, p.W557_K558del, p.W557_V559>F, p.Y503_F504insAY | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Unknown | 4:54726019-54726020, 4:54727437-54727442, 4:54727438-54727443, 4:54727473-54727484, | Info_not_available | Info_not_available | 12949711 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21866466 |
| KIT | 6342 | COSM1162, COSM1163, COSM1169, COSM1170, COSM1176, COSM1182, COSM1191, COSM1200, COSM1203, COSM1204, COSM1209, COSM1213, COSM1217, COSM1229, COSM1238, COSM1239, COSM1250, COSM1256, COSM1266, COSM1268, COSM1270, COSM1276, COSM1294, COSM1326, COSM1332, COSM1335, COSM1336, COSM1337, COSM1338, COSM1339, COSM1340, COSM1341, COSM1342, COSM1343, COSM1344, COSM1345, COSM1346, COSM1347, COSM1348, COSM1349, COSM1350, COSM1351, COSM1352, COSM1353, COSM6141, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insPTQLPY, p.D579del, p.E554_V560>D, p.E562_P573del, p.G592_K593ins13, p.G592_K593ins15, p.I563_D572del, p.K550_E554del, p.K550_K558del, p.K550_V560>L, p.K558_E562del, p.K558_G565>R, p.K558_N564>R, p.K558_N564del, p.K558_V559>I, p.K558_V559>QP, p.K581_W582insDPTQLPYDH, p.L576_P577ins15, p.M552_K558del, p.M552_Q556>K, p.N564_L576del, p.N567_P573del, p.P551_M552>L, p.P551_Q556del, p.P551_V555del, p.Q556_K558>T, p.Q556_T574del, p.Q556_V560>H, p.Q556_V560del, p.R586_N587ins12, p.R588_L589insDHKWEFPRN, p.S590_F591ins13, p.V555_I571del, p.V555_P573del, p.V555_Q556>E, p.V559_E561del, p.V560del, p.W557_E561del, p.W557_I563>T, p.W557_K558>FQ, p.W557_K558del, p.W557_P573>S, p.Y503_F504insAY, p.Y553_K558>L, p.Y553_V559del | Complex - compound substitution, Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, 4:54727416-54727430, 4:54727416-54727442, 4:54727419-54727433, 4:54727419-54727436, 4:54727420-54727422, 4:54727422-54727442, 4:54727425-54727445, 4:54727431-54727481, 4:54727431-54727487, 4:54727434-54727448, 4:54727434-54727490, 4:54727436-54727447, 4:54727437-54727442, 4:54727437-54727451, 4:54727438-54727485, 4:54727440-54727454, 4:54727440-54727460, 4:54727443-54727451, 4:54727446-54727448, 4:54727452-54727487, 4:54727455-54727484, 4:54727458-54727496, 4:54727467-54727487, 4:54727503-54727505, | Info_not_available | Info_not_available | 12960119 |
| KIT | 6342 | COSM29323, | soft_tissue | gastrointestinal_stromal_tumour | p.M552_V559>I | Complex - deletion inframe | Info_not_available | Info_not_available | Info_not_available | 21874433 |
| KIT | 6342 | COSM1366, COSM1367, | soft_tissue | leiomyosarcoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 14529657 |
| KIT | 6342 | COSM12445, COSM12453, COSM12697, COSM1326, COSM1361, COSM18740, COSM18891, COSM19016, COSM220137, COSM220138, COSM220139, COSM221588, COSM221589, COSM221590, COSM221591, COSM221592, COSM221593, COSM221594, COSM221595, COSM221596, COSM221597, COSM221598, COSM221599, COSM221600, COSM25035, COSM25063, COSM27122, COSM29001, COSM29322, COSM29347, COSM29350, COSM29869, COSM29870, COSM307350, COSM33962, COSM36274, COSM36994, COSM41587, COSM41668, COSM51533, COSM85785, COSM87543, | soft_tissue | gastrointestinal_stromal_tumour | p.?del, p.D572_P573del, p.D579_H580ins10, p.D579_H580insLPYD, p.D579_H580insQLPYD, p.D579del, p.E554_K558del, p.E554_L576>DNCSHLSPQQP, p.E554_N566del, p.E554_V555del, p.E554_W557del, p.E583_F584insPYDHKWE, p.G565_D572del, p.H580_K581insPTQLPYDH, p.I563_P577>TI, p.K550_K558del, p.K550_V555del, p.K550_W557del, p.K558_E562del, p.K558_V560>NH, p.K581_W582insPYDHK, p.K642E, p.L576P, p.M552_W557del, p.P551_Q556del, p.P551_V555del, p.P551_V559del, p.Q556_E561>PS, p.Q556_Q575del, p.R586_N587ins13, p.V555_K558del, p.V555_Q556del, p.V559A, p.V559G, p.V560D, p.W557R, p.W557_K558del, p.W557_P573del, p.W557_V559>C, p.W557_V559>PF, p.Y503_F504insAY, p.Y553_K558del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, | Info_not_available | Info_not_available | 21906875 |
| KIT | 6342 | COSM12434, COSM12453, COSM18888, COSM18889, COSM18890, | soft_tissue | gastrointestinal_stromal_tumour | p.H580_K581insYDH, p.V559A, p.V560A, p.W557G, p.W557_E561del | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 14560152 |
| KIT | 6342 | COSM12445, COSM12697, COSM133786, COSM18891, COSM24836, COSM25058, COSM27126, COSM308540, | skin | malignant_melanoma | p.D816N, p.K642E, p.L576P, p.M552I, p.N567_L576del, p.P551_E554del, p.V559G, p.Y568C | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 21971089 |
| KIT | 6342 | COSM1211, COSM1217, COSM1226, COSM1248, COSM1355, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.V559_V560del, p.W557_K558del, p.W557_V559>F | Complex - deletion inframe, Deletion - In frame, Unknown | 4:54727436-54727441, 4:54727437-54727442, 4:54727438-54727443, 4:54727443-54727448, | Info_not_available | Info_not_available | 14571755 |
| KIT | 6342 | COSM12435, COSM12444, COSM12445, COSM1357, COSM1361, COSM18740, COSM19016, COSM22425, COSM23419, COSM24706, COSM24854, COSM250034, COSM250035, COSM250036, COSM27121, COSM27122, COSM29322, COSM34178, COSM36317, COSM85781, COSM87538, COSM98394, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D579N, p.D820Y, p.E554_I571del, p.K550_W557>IL, p.K558>NP, p.K558_V559>N, p.L576P, p.P585T, p.Q556_E561>P, p.R586_N587ins14, p.V473M, p.V559D, p.V560D, p.V560E, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_V559>C, p.W557del, p.Y503_F504insAY, p.Y553_K558del | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21972089 |
| KIT | 6342 | COSM1355, | soft_tissue | gastrointestinal_stromal_tumour | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 14657715 |
| KIT | 6342 | COSM12444, COSM19016, COSM214352, COSM250039, COSM27078, COSM29322, COSM29347, COSM29350, COSM34207, | soft_tissue | gastrointestinal_stromal_tumour | p.(449_514)?, p.?, p.D579del, p.K550_Q556>L, p.M552_W557del, p.Q556_P573del, p.V560D, p.W557_K558del, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 21994214 |
| KIT | 6342 | COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 14691917 |
| KIT | 6342 | COSM1220, | soft_tissue | gastrointestinal_stromal_tumour | p.W557del | Deletion - In frame | 4:54727437-54727439, | Info_not_available | Info_not_available | 22045229 |
| KIT | 6342 | COSM1217, COSM1233, COSM1245, COSM1259, COSM1294, COSM1326, COSM1361, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.K558>NP, p.V560E, p.W557R, p.W557_K558del, p.W557_V559>C, p.Y503_F504insAY | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, 4:54727437-54727442, 4:54727439-54727444, 4:54727442-54727442, 4:54727447-54727448, 4:54727503-54727505, | Info_not_available | Info_not_available | 14694524 |
| KIT | 6342 | COSM1355, | skin | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 22068222 |
| KIT | 6342 | COSM6142, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_W557del | Deletion - In frame | 4:54727412-54727439, | Info_not_available | Info_not_available | 14967957 |
| KIT | 6342 | COSM19023, COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V, p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22109829 |
| KIT | 6342 | COSM12438, COSM12448, COSM12449, COSM12714, COSM1326, COSM18684, COSM18685, COSM18686, COSM18687, COSM18688, COSM18689, COSM18690, COSM18691, COSM18692, COSM18693, COSM18694, COSM18695, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.E554_V555del, p.E554_V560>K, p.K550_K558>G, p.K558_V559del, p.K558_V560>I, p.M552_W557del, p.R586_N587ins13, p.V555_P573del, p.V555_Q556del, p.V555_V560>T, p.V559_E561del, p.V569_L576del, p.W557_I563>FP, p.W557_K558del, p.W557_V560>F, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 15010069 |
| KIT | 6342 | COSM12435, | soft_tissue | gastrointestinal_stromal_tumour | p.V559D | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22114577 |
| KIT | 6342 | COSM1157, COSM12448, COSM12449, COSM1326, COSM1361, COSM18740, COSM18741, COSM18743, COSM18744, COSM18745, COSM18746, COSM18747, COSM18749, COSM18750, COSM18751, COSM18752, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.E561_Y578del, p.F584_P585ins13, p.F591_G592ins21, p.K550_K558del, p.K550_P551>I, p.L576del, p.M552_V559>I, p.N587_R588ins15, p.V555_K558del, p.W557R, p.W557_E562del, p.W557_K558del, p.W557_V559>C, p.Y503_F504insAY, p.Y553_K558del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, 4:54727520-54727521, 4:54727529-54727530, 4:54727541-54727542, | Info_not_available | Info_not_available | 15062876 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22145956 |
| KIT | 6342 | COSM1187, COSM1190, COSM12440, COSM12449, COSM12649, COSM1328, COSM1332, COSM18664, COSM18665, COSM18666, COSM18667, COSM18668, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insPTQLPYD, p.H580_K581insPYDH, p.M552_E554>K, p.M552_W557del, p.M552_Y553del, p.P573_T574insYIDP, p.V560del, p.W557_E561del, p.W557_K558del, p.W557_T575>CP, p.Y553_K558del, p.Y553_W557del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54727423-54727440, 4:54727424-54727438, 4:54727425-54727442, 4:54727437-54727451, 4:54727487-54727488, 4:54727505-54727506, 4:54727508-54727509, | Info_not_available | Info_not_available | 15112348 |
| KIT | 6342 | COSM24818, COSM255209, COSM256028, COSM256029, | skin | malignant_melanoma | p.?, p.E583V, p.K807R, p.Y553C | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22154054 |
| KIT | 6342 | COSM18750, | soft_tissue | gastrointestinal_stromal_tumour | p.M552_V559>I | Complex - deletion inframe | Info_not_available | Info_not_available | Info_not_available | 15150562 |
| KIT | 6342 | COSM1357, | pancreas | carcinoid-endocrine_tumour | p.K558>NP | Complex - insertion inframe | Info_not_available | Info_not_available | Info_not_available | 22160160 |
| KIT | 6342 | COSM18827, | testis | germ_cell_tumour | p.M552_V555del | Deletion - In frame | 4:54727422-54727433, | Info_not_available | Info_not_available | 15150569 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12445, COSM12697, COSM1361, COSM18680, COSM19016, COSM27121, COSM28482, COSM29322, COSM29350, COSM29878, COSM308545, COSM308551, COSM308552, | soft_tissue | gastrointestinal_stromal_tumour | p.?_?ins?, p.A829P, p.L576P, p.M552_W557del, p.P585_R586ins12, p.V559D, p.V559G, p.V560D, p.V569_Y578del, p.W557G, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_V559>F, p.Y503_F504insAY, p.Y553_V559>L | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22175887 |
| KIT | 6342 | COSM12435, COSM12444, COSM12449, COSM12695, COSM18684, COSM19011, COSM19016, COSM19023, COSM19123, COSM19124, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_V555del, p.K550_V555>F, p.N822K, p.V559D, p.V559del, p.V560D, p.V569_L576del, p.W557_K558>E, p.W557_K558del, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15154005 |
| KIT | 6342 | COSM12435, COSM1361, COSM24825, COSM25057, COSM28029, COSM29319, COSM29322, COSM308542, COSM308544, COSM308545, COSM87537, | soft_tissue | gastrointestinal_stromal_tumour | p.?_?ins?, p.D579_H580insDPTQLPYD, p.E554_V559del, p.L576_P577insTQL, p.P551_K558del, p.P551_M552>L, p.Q556H, p.V559D, p.V560del, p.W557R, p.W557_K558del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727505-54727506, | Info_not_available | Info_not_available | 22207557 |
| KIT | 6342 | COSM12440, | thymus | thymic_carcinoma | p.V560del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 15201427 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22238327 |
| KIT | 6342 | COSM12449, COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 15223958 |
| KIT | 6342 | COSM24640, COSM24706, | skin | malignant_melanoma | p.D820Y, p.N822Y | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22281663 |
| KIT | 6342 | COSM1217, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del | Deletion - In frame | 4:54727437-54727442, | Info_not_available | Info_not_available | 15236194 |
| KIT | 6342 | COSM12435, COSM12444, COSM12453, COSM12699, COSM1361, COSM18891, COSM19016, COSM19023, COSM24838, COSM25063, COSM27074, COSM27121, COSM27125, COSM27126, COSM27905, COSM29001, COSM29317, COSM29319, COSM29322, COSM29343, COSM29347, COSM29869, COSM29876, COSM306139, COSM306140, COSM306141, COSM306142, COSM306143, COSM306144, COSM306145, COSM51533, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.E554_I571>A, p.E554_K558del, p.E561K, p.K550_K558>Q, p.K558_E562del, p.K558_G565>N, p.K558_V559del, p.K558_V560del, p.K642E, p.L576_G592del, p.L576_P577del, p.N655K, p.N822K, p.P551_E554del, p.P551_V555del, p.Q575_L576ins15, p.V555_K558del, p.V559A, p.V559D, p.V559del, p.V560D, p.V560G, p.V560del, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_V559del, p.Y503_F504insAY, p.Y570_L576del, p.Y578N | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22282465 |
| KIT | 6342 | COSM12434, COSM12435, COSM12436, COSM12437, COSM12438, COSM12439, COSM12440, COSM12441, COSM12442, COSM12443, COSM12444, COSM12445, COSM12447, COSM12448, COSM12449, COSM12450, COSM12451, COSM12453, COSM12454, COSM12455, COSM12456, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.E561_D579>P, p.I563_N564>MI, p.L576P, p.L576_P577insPTQL, p.L576_P577insQL, p.L589_S590ins13, p.Q556_K558>HT, p.Q556_V559>HT, p.V555_Q556del, p.V555_V560>H, p.V559A, p.V559D, p.V559_G565del, p.V560del, p.W557G, p.W557_K558del, p.W557del, p.Y503_F504insAY, p.Y553N, p.Y570_L576del | Complex - compound substitution, Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15269295 |
| KIT | 6342 | COSM327596, COSM327597, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.K550_Q556del | Deletion - In frame, Unknown | 4:54727412-54727415, 4:54727416-54727436, | Info_not_available | Info_not_available | 22307903 |
| KIT | 6342 | COSM12435, COSM12444, COSM1361, COSM18680, COSM18685, COSM18828, COSM18829, COSM18830, COSM18831, COSM18832, COSM18833, COSM18891, COSM18892, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K557>G, p.G565_T574>P, p.K558_V559del, p.K642E, p.L548_K558>Q, p.P585_R586ins12, p.V559D, p.W557R, p.W557_T574del, p.W557_V559>F, p.Y503_F504insAY, p.Y547_K558>Q, p.Y578_D579insXXX | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15323137 |
| KIT | 6342 | COSM144983, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A502_Y503insSA | Insertion - In frame | 4:54726014-54726015, | Info_not_available | Info_not_available | 22324351 |
| KIT | 6342 | COSM12435, COSM12440, COSM12444, COSM12449, COSM12453, COSM18672, COSM18679, COSM19023, COSM19195, COSM19196, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del, p.K558>NQ, p.N822K, p.R588_L589ins14, p.V559A, p.V559D, p.V560del, p.W557_K558>S, p.W557_K558del, p.Y503_F504insAY | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15326474 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22338050 |
| KIT | 6342 | COSM27127, COSM28677, COSM28678, COSM29014, COSM30708, COSM30709, COSM30710, COSM30711, COSM30712, COSM30713, COSM6136, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?_?ins?, p.D419del, p.D816H, p.D816V, p.D816Y, p.L589_S590ins16, p.T417_D419>F, p.T417_D419>KS, p.T417_D419>RA, p.T417_D419>Y, p.Y418_D419insFF | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | 4:54723601-54723607, 4:54723601-54723608, 4:54723602-54723608, 4:54723606-54723607, 4:54723607-54723609, | Info_not_available | Info_not_available | 15339674 |
| KIT | 6342 | COSM1217, COSM1326, COSM1333, | soft_tissue | gastrointestinal_stromal_tumour | p.V560E, p.W557_K558del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, 4:54727437-54727442, 4:54727447-54727448, | Info_not_available | Info_not_available | 22350270 |
| KIT | 6342 | COSM1217, COSM1226, COSM1326, COSM18896, COSM18897, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_E562del, p.V559_E562del, p.W557_K558del, p.W557_V559>F, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, 4:54727437-54727442, 4:54727438-54727443, 4:54727441-54727455, 4:54727444-54727455, | Info_not_available | Info_not_available | 15342366 |
| KIT | 6342 | COSM1234, COSM1256, COSM1326, COSM255207, COSM405282, COSM405284, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.?del, p.K558_V560del, p.V560del, p.W557?, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | 4:54726019-54726020, 4:54727440-54727448, 4:54727446-54727448, | Info_not_available | Info_not_available | 22399613 |
| KIT | 6342 | COSM19009, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A814T | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15371947 |
| KIT | 6342 | COSM19023, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22425908 |
| KIT | 6342 | COSM12449, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 15387340 |
| KIT | 6342 | COSM12445, COSM28678, COSM29869, | skin | malignant_melanoma | p.D816Y, p.K558_E562del, p.L576P | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22437319 |
| KIT | 6342 | COSM12390, COSM12391, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_V559>S, p.M552_V555del | Complex - deletion inframe, Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 15492989 |
| KIT | 6342 | COSM1233, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_V559>C | Complex - deletion inframe | 4:54727439-54727444, | Info_not_available | Info_not_available | 22437744 |
| KIT | 6342 | COSM12440, COSM12449, COSM12693, COSM12695, COSM1335, COSM18684, COSM18890, COSM19011, COSM19012, COSM19013, COSM19014, COSM19015, COSM19016, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_V555del, p.K550_V555>I, p.K558_E561del, p.M552_V559>IT, p.Q556_W557>E, p.V555_Q556>E, p.V559_N566>D, p.V559del, p.V560D, p.V560del, p.V569_L576del, p.W557_E561del, p.W557_K558del | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15545668 |
| KIT | 6342 | COSM1180684, COSM1180685, COSM12445, COSM18891, COSM19016, | skin | malignant_melanoma | p.K642E, p.L576P, p.L641H, p.T632I, p.V560D | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22464346 |
| KIT | 6342 | COSM19023, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15621809 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22469616 |
| KIT | 6342 | COSM1355, COSM19023, COSM19113, COSM19114, COSM19115, COSM19116, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?, p.D419del, p.F506_A507insAYFNF, p.I571_D572ins14, p.N822K, p.Q575_L576ins17 | Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | 4:54726028-54726029, | Info_not_available | Info_not_available | 15650049 |
| KIT | 6342 | COSM29322, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 22495360 |
| KIT | 6342 | COSM12444, COSM12445, COSM12449, COSM12692, COSM12693, COSM12694, COSM12695, COSM12696, COSM12697, COSM12698, COSM12699, COSM12700, COSM12702, | soft_tissue | gastrointestinal_stromal_tumour | p.G565R, p.G565_D579>V, p.K550_K558>Q, p.K558N, p.K558_E561del, p.K558_I563del, p.L576P, p.T574_Q575insPT, p.V559G, p.V560_L576del, p.V569_L576del, p.W557_K558del, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15685537 |
| KIT | 6342 | COSM12445, | skin | malignant_melanoma | p.L576P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22515704 |
| KIT | 6342 | COSM12435, COSM12440, COSM12444, COSM12448, COSM12453, COSM12649, COSM12650, COSM12651, COSM12713, COSM12714, COSM12715, COSM12716, COSM1361, | soft_tissue | gastrointestinal_stromal_tumour | p.?_?ins?, p.D579del, p.K550_Q556del, p.L589_S590ins17, p.M552_Y553del, p.R586_N587ins13, p.V559A, p.V559D, p.V560del, p.W557R, p.W557_N564del, p.Y503_F504insAY, p.Y553_Q556del | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15690055 |
| KIT | 6342 | COSM1191165, COSM1191166, COSM1191167, COSM1191168, COSM12435, COSM12697, COSM133637, COSM1361, COSM19016, COSM221594, COSM22425, COSM24640, COSM24834, COSM28613, COSM28692, COSM29319, COSM29322, COSM29347, COSM29865, COSM29873, COSM34128, COSM87538, COSM98398, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insDPTQLPYD, p.D579del, p.D820G, p.F584_P585ins13, p.F591_G592ins14, p.L589_S590ins14, p.N564_L576del, p.N822Y, p.P551_E554>Q, p.Q556_V560del, p.V555_Q556del, p.V559D, p.V559G, p.V559_E562del, p.V560D, p.V560E, p.V560del, p.V569_L576del, p.W557R, p.W557S, p.W557_K558del, p.W557del, p.Y568_L576>CCV | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22555179 |
| KIT | 6342 | COSM12697, | soft_tissue | gastrointestinal_stromal_tumour | p.V559G | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15708062 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22608575 |
| KIT | 6342 | COSM19311, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.> | Complex - insertion inframe | Info_not_available | Info_not_available | Info_not_available | 15725473 |
| KIT | 6342 | COSM36317, | skin | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 22643209 |
| KIT | 6342 | COSM19215, | soft_tissue | gastrointestinal_stromal_tumour | p.Q556_W557del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 15756592 |
| KIT | 6342 | COSM24844, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816? | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22658276 |
| KIT | 6342 | COSM214352, COSM24709, COSM28482, COSM28999, COSM36317, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.A829P, p.D820A, p.V654A | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 22665524 |
| KIT | 6342 | COSM1217, COSM1326, COSM19293, | soft_tissue | gastrointestinal_stromal_tumour | p.T670E, p.W557_K558del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54726019-54726020, 4:54727437-54727442, 4:54729352-54729353, | Info_not_available | Info_not_available | 15811621 |
| KIT | 6342 | COSM19321, COSM19322, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_K558del | Deletion - In frame | 4:54727407-54727440, 4:54727411-54727440, | Info_not_available | Info_not_available | 15824741 |
| KIT | 6342 | COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 22713591 |
| KIT | 6342 | COSM12449, COSM19011, COSM25063, COSM29319, COSM34207, | soft_tissue | gastrointestinal_stromal_tumour | p.(449_514)?, p.P551_V555del, p.V559del, p.V560del, p.W557_K558del | Deletion - In frame, Unknown | Info_not_available | Info_not_available | Info_not_available | 15838387 |
| KIT | 6342 | COSM12435, COSM18680, COSM18891, COSM19016, COSM19023, COSM21982, COSM29322, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_V560>N, p.K642E, p.N822K, p.V559D, p.V560D, p.W557_K558del, p.W557_V559>F | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22777070 |
| KIT | 6342 | COSM1312, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816F | Substitution - Missense | 4:54733154-54733155, | Info_not_available | Info_not_available | 15858149 |
| KIT | 6342 | COSM1272081, COSM1578132, COSM1578133, COSM1578134, COSM29014, COSM36329, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419_L421>H, p.D419_R420del, p.D419del, p.T417D, p.Y418_D419del, p.Y418_L521>H | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | 4:54723601-54723602, 4:54723604-54723609, 4:54723604-54727248, 4:54723607-54723609, 4:54723607-54723612, 4:54723607-54723614, | Info_not_available | Info_not_available | 22825855 |
| KIT | 6342 | COSM1179, COSM12449, COSM1247, COSM1326, COSM24834, COSM24854, COSM24855, COSM24857, COSM24858, COSM24859, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_W557>IL, p.K558_V559>I, p.M552_Y553del, p.Q556_D572>H, p.Q556_K558>N, p.Q556_V560del, p.V559del, p.W557_K558del, p.W557_V560>C, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, 4:54727422-54727427, 4:54727443-54727445, | Info_not_available | Info_not_available | 15897563 |
| KIT | 6342 | COSM12435, COSM12444, COSM12453, COSM1583017, COSM1583018, COSM1583019, COSM221590, COSM221597, COSM24854, COSM24855, COSM25033, COSM25042, COSM29344, COSM30731, COSM41668, COSM51533, COSM85775, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insQLPYD, p.K550_W557>IL, p.N567_L576>F, p.N567_L576>KQV, p.N587_R588ins15, p.P551_Q556del, p.P577_D579del, p.Q556_K558>N, p.Q556_L576del, p.R586I, p.S476I, p.V555_K558del, p.V559A, p.V559D, p.W557_P573>S, p.W557_P573del, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22855146 |
| KIT | 6342 | COSM19023, COSM22394, COSM22395, COSM22396, COSM22397, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.571_572>GE, p.N822K, p.T417_D419>L, p.T417_R420>SVIVG, p.Y418_D419insFF | Complex - deletion inframe, Complex - insertion inframe, Insertion - In frame, Substitution - Missense | 4:54723601-54723608, 4:54723602-54723612, 4:54723606-54723607, 4:54727482-54727483, | Info_not_available | Info_not_available | 15902284 |
| KIT | 6342 | COSM12435, COSM12444, COSM12445, COSM12453, COSM1361, COSM143906, COSM144125, COSM144126, COSM144131, COSM1583022, COSM1583024, COSM1583025, COSM1583026, COSM1583033, COSM1583034, COSM1583035, COSM1583036, COSM18670, COSM18680, COSM19016, COSM24834, COSM24859, COSM25063, COSM29319, COSM29322, COSM29347, COSM36177, COSM36280, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.D572N, p.D579del, p.E554D, p.E562K, p.F591S, p.I563_P577del, p.L576P, p.N564H, p.P551_V555del, p.P573L, p.Q556_I563del, p.Q556_K558del, p.Q556_V560del, p.R588K, p.V555I, p.V559A, p.V559D, p.V560D, p.V560del, p.W557*, p.W557R, p.W557_K558del, p.W557_V559>F, p.W557_V560>C, p.Y503_F504insAY, p.Y568_Q575>E, p.Y578_D579insELPY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 22866155 |
| KIT | 6342 | COSM1157, COSM12435, COSM12444, COSM12449, COSM1361, COSM18672, COSM18690, COSM19215, COSM21948, COSM21949, COSM21950, COSM21951, COSM21952, COSM21953, COSM21954, COSM21955, COSM21956, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del, p.K550_K558del, p.K558_V559insS, p.L589_S590ins15, p.M552_K558del, p.M552_V560del, p.M552_W557del, p.N564_T574del, p.P551_Q556del, p.P577_Y578insTQLP, p.P585_R586ins11, p.Q556_W557del, p.V559D, p.W557R, p.W557_D572del, p.W557_K558del, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15929122 |
| KIT | 6342 | COSM12435, COSM12440, COSM12444, COSM12445, COSM12449, COSM12695, COSM1357, COSM18891, COSM19023, COSM19196, COSM22426, COSM23557, COSM24701, COSM24702, COSM24703, COSM24704, COSM24705, COSM24706, COSM24707, COSM24708, COSM24709, COSM28613, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insTQLPYD, p.D820Y, p.I563_L576del, p.K558>NP, p.K558>NQ, p.K558_E562del, p.K642E, p.L576P, p.N564_Y578del, p.N822K, p.P551_E554>H, p.P577_Y578del, p.T670I, p.V555_V559del, p.V559D, p.V560del, p.V569_L576del, p.V654A, p.W557_K558del, p.Y503_F504insAY, p.Y823D | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 15930355 |
| KIT | 6342 | COSM12453, COSM1600395, COSM24838, | soft_tissue | gastrointestinal_stromal_tumour | p.V559A, p.V560G, p.W557_K558>C | Complex - deletion inframe, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22892600 |
| KIT | 6342 | COSM21978, | soft_tissue | gastrointestinal_stromal_tumour | p.W557_K558>CP | Complex - compound substitution | 4:54727439-54727441, | Info_not_available | Info_not_available | 15976351 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22905207 |
| KIT | 6342 | COSM19023, COSM19116, COSM24707, COSM24844, COSM24876, COSM24877, COSM24878, COSM24879, COSM24880, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419del, p.D816?, p.N822K, p.T417_D419>RA, p.T417_D419>Y, p.T417_Y418>H, p.Y418_D419>G, p.Y418_D419>S, p.Y823D | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16015387 |
| KIT | 6342 | COSM214352, | soft_tissue | gastrointestinal_stromal_tumour | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 22975558 |
| KIT | 6342 | COSM19311, COSM22537, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.>, p.Y418_D419>G | Complex - deletion inframe, Complex - insertion inframe | 4:54723604-54723608, | Info_not_available | Info_not_available | 16049512 |
| KIT | 6342 | COSM1166767, COSM1166772, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419fs*4, p.Y418fs*29 | Deletion - Frameshift | 4:54723604-54723605, 4:54723607-54723607, | Info_not_available | Info_not_available | 22976956 |
| KIT | 6342 | COSM21976, | soft_tissue | gastrointestinal_stromal_tumour | p.K558>NP | Complex - insertion inframe | 4:54727441-54727442, | Info_not_available | Info_not_available | 16126886 |
| KIT | 6342 | COSM12692, COSM29319, | soft_tissue | gastrointestinal_stromal_tumour | p.K558N, p.V560del | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 22993368 |
| KIT | 6342 | COSM19023, | testis | germ_cell_tumour | p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16166280 |
| KIT | 6342 | COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 23001300 |
| KIT | 6342 | COSM1172, COSM1198, COSM12391, COSM12444, COSM12449, COSM1342, COSM18666, COSM18688, COSM18740, COSM19124, COSM21982, COSM22425, COSM22426, COSM23417, COSM23418, COSM23420, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insIDPTQLPYD, p.H580_K581insPYDH, p.K558_E562del, p.K558_G565>R, p.K558_V560>N, p.M552_V555del, p.P551_E554del, p.Q556_K558del, p.S480fs*47, p.V555_V559del, p.V559_E561del, p.V560E, p.W557_K558>E, p.W557_K558del, p.W557_V559>C, p.Y503_F504insAY | Complex - deletion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54725949-54725949, 4:54727419-54727430, 4:54727431-54727445, 4:54727434-54727442, 4:54727505-54727506, 4:54727508-54727509, | Info_not_available | Info_not_available | 16166437 |
| KIT | 6342 | COSM1651651, | skin | malignant_melanoma | p.? | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 23014346 |
| KIT | 6342 | COSM1355, | soft_tissue | gastrointestinal_stromal_tumour | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 16178904 |
| KIT | 6342 | COSM1666912, COSM1666913, COSM19023, COSM27127, COSM28553, COSM28677, COSM28678, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?, p.D816H, p.D816V, p.D816Y, p.N822K, p.R634W | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 23053179 |
| KIT | 6342 | COSM1203, | testis | germ_cell_tumour | p.V555_P573del | Deletion - In frame | 4:54727431-54727487, | Info_not_available | Info_not_available | 16188233 |
| KIT | 6342 | COSM33992, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 23069194 |
| KIT | 6342 | COSM1157, COSM12435, COSM12440, COSM12445, COSM12448, COSM12449, COSM18676, COSM18685, COSM18690, COSM21981, COSM24859, COSM25020, COSM25021, COSM25022, COSM25023, COSM25024, COSM25025, COSM25026, COSM25027, COSM25028, | soft_tissue | gastrointestinal_stromal_tumour | p.583_584>STQLPYDHKWE, p.591_592>15, p.D579del, p.K550_K558del, p.K550_V555>QRI, p.K558_V559del, p.L548_E554>QK, p.L576P, p.M552_W557del, p.N564_L576del, p.P573_T574insDP, p.Q556_D572del, p.Q556_V559>HF, p.Q556_V560>H, p.V555_V560del, p.V559D, p.V560del, p.W557_K558del, p.W557_V560>C, p.Y553_K558>SE | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16203282 |
| KIT | 6342 | COSM1326, COSM219786, COSM34207, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.(449_514)?, p.A502_Y503insSA, p.Y503_F504insAY | Insertion - In frame, Unknown | 4:54726017-54726018, 4:54726019-54726020, | Info_not_available | Info_not_available | 23074272 |
| KIT | 6342 | COSM24844, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816? | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16254134 |
| KIT | 6342 | COSM1725012, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_V559>NN | Complex - compound substitution | 4:54727442-54727445, | Info_not_available | Info_not_available | 23084635 |
| KIT | 6342 | COSM21957, | soft_tissue | gastrointestinal_stromal_tumour | p.E490_F504>DHIVVSLTF | Complex - deletion inframe | 4:54725980-54726022, | Info_not_available | Info_not_available | 16287112 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 23092007 |
| KIT | 6342 | COSM19023, COSM21998, COSM21999, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A814S, p.N822K, p.N822T | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16291592 |
| KIT | 6342 | COSM12434, COSM12435, COSM12444, COSM12445, COSM12453, COSM12697, COSM1361, COSM1651651, COSM1735731, COSM1735732, COSM18891, COSM19016, COSM214352, COSM24818, COSM24836, COSM24838, COSM255209, COSM255210, COSM27905, COSM29322, COSM29347, COSM308545, COSM33714, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.?_?ins?, p.D579del, p.E561D, p.F584L, p.K642E, p.L576P, p.N655K, p.V559A, p.V559D, p.V559G, p.V560D, p.V560G, p.W557G, p.W557R, p.W557_K558del, p.Y503_F504insAY, p.Y553C, p.Y568C | Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 23106360 |
| KIT | 6342 | COSM12391, COSM12435, COSM12449, COSM1361, COSM19015, COSM19016, COSM21980, COSM21981, COSM21982, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_V555>I, p.K558_V560>N, p.M552_V555del, p.N564_L576del, p.V559D, p.V560D, p.W557R, p.W557_K558del, p.Y578_D579insENY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16294026 |
| KIT | 6342 | COSM1666912, COSM19023, COSM27127, COSM28677, COSM28678, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?, p.D816H, p.D816V, p.D816Y, p.N822K | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 23107788 |
| KIT | 6342 | COSM1217, COSM12694, COSM21951, COSM24748, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_I563del, p.W557_D572del, p.W557_K558>E, p.W557_K558del | Complex - deletion inframe, Deletion - In frame | 4:54727437-54727440, 4:54727437-54727442, | Info_not_available | Info_not_available | 16297706 |
| KIT | 6342 | COSM1166935, | ovary | carcinoma | p.P585P | Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 23144797 |
| KIT | 6342 | COSM22221, COSM22222, COSM22223, | soft_tissue | gastrointestinal_stromal_tumour | p.F591_G592ins15, p.M552_Q556>T, p.W557_V560del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame | Info_not_available | Info_not_available | Info_not_available | 16441423 |
| KIT | 6342 | COSM33992, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419del | Deletion - In frame | Info_not_available | Info_not_available | Info_not_available | 23196796 |
| KIT | 6342 | COSM25046, COSM25047, COSM25048, COSM25049, COSM25050, COSM25051, COSM25052, COSM25053, COSM25054, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D696G, p.E925G, p.I538M, p.K735M, p.K918E, p.L859P, p.S868G, p.T753A, p.V950A | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16460801 |
| KIT | 6342 | COSM1169415, COSM1169429, COSM1169430, COSM1169431, COSM1169432, COSM1169433, COSM1169434, COSM1169435, COSM1169436, COSM1169437, COSM1169439, COSM12434, COSM12435, COSM12444, COSM12453, COSM1361, COSM144126, COSM18680, COSM18740, COSM18891, COSM19016, COSM25075, COSM27079, COSM27080, COSM27121, COSM29319, COSM29322, COSM29343, COSM29347, COSM29867, COSM33962, COSM51530, COSM98403, COSM98404, | soft_tissue | gastrointestinal_stromal_tumour | p.D579_H580insIDPTQLPYD, p.D579_H580insQDPTQLPYD, p.D579del, p.F591_G592ins13, p.H580_K581insPYDH, p.H580del, p.K550_M552>L, p.K550_W557del, p.K593_T594insGK, p.K642E, p.L589_S590ins14, p.P551L, p.P585_R586ins13, p.Q556_W557>G, p.Q556_W557del, p.R588_L589ins16, p.V559A, p.V559D, p.V559_E561del, p.V559_P573>Q, p.V560D, p.V560del, p.W557*, p.W557G, p.W557R, p.W557_E561del, p.W557_K558del, p.W557_Q575del, p.W557_V559>C, p.W557_V559>F, p.Y503_F504insAY, p.Y553_W557del, p.Y570_L576del, p.Y570_Y578del | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 23291969 |
| KIT | 6342 | COSM25042, COSM25043, COSM25044, COSM25045, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.A617S, p.C809R, p.G596D, p.R586I | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16533529 |
| KIT | 6342 | COSM12697, COSM24709, COSM29322, COSM5622359, COSM5622360, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.V559G, p.V643Sfs*6, p.V654A, p.W557_K558del | Deletion - In frame, Insertion - Frameshift, Substitution - Missense, Unknown | 4:54727416-54727438, | Info_not_available | Info_not_available | 23348204 |
| KIT | 6342 | COSM12434, COSM12440, COSM12444, COSM12448, COSM12449, COSM12451, COSM12455, COSM18674, COSM18690, COSM18747, COSM18890, COSM19016, COSM19023, COSM19293, COSM21982, COSM24706, COSM24707, COSM24708, COSM24709, COSM25032, COSM27126, COSM28481, COSM28612, COSM28613, COSM28614, COSM28615, COSM28690, COSM28692, COSM28693, | soft_tissue | gastrointestinal_stromal_tumour | p.D579del, p.D816E, p.D820E, p.D820G, p.D820Y, p.E554_D572>A, p.E554_W557>V, p.K558_D572del, p.K558_V560>N, p.M552_W557del, p.N567_P573del, p.N822K, p.P551_E554del, p.Q556_V559>H, p.Q556_V559>HT, p.S709F, p.T670E, p.T670I, p.V559_G565del, p.V560D, p.V560del, p.V569_L576del, p.V654A, p.W557G, p.W557_E561del, p.W557_E562del, p.W557_K558del, p.Y503_F504insAY, p.Y823D | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54729352-54729353, | Info_not_available | Info_not_available | 16551858 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 23374274 |
| KIT | 6342 | COSM12435, COSM12444, COSM12445, COSM19016, COSM19023, COSM221594, COSM22425, COSM24706, COSM24707, COSM24709, COSM24834, COSM25010, COSM25063, COSM25075, COSM27126, COSM28482, COSM28613, COSM29001, COSM29004, COSM29321, COSM29322, COSM29343, COSM29356, COSM29862, COSM29873, COSM33737, COSM5622332, COSM5622333, COSM5622353, COSM5622354, COSM5622356, COSM5622357, COSM5622358, COSM85746, COSM86957, | soft_tissue | gastrointestinal_stromal_tumour | p.?, p.A829P, p.D579_K581del, p.D820Y, p.E554_K558del, p.E554_N564del, p.K550_Q556del, p.K558del, p.L576P, p.N564_L576del, p.N567S, p.N822K, p.P551_E554del, p.P551_V555del, p.Q556_I571del, p.Q556_T574del, p.Q556_V560del, p.V555_I571del, p.V555_Q556del, p.V559D, p.V560D, p.V560E, p.V569_L576del, p.V569_Q575del, p.V654A, p.W557C, p.W557_I571del, p.W557_K558del, p.Y503_F504insAY, p.Y553_Q556del, p.Y553_W557del, p.Y568_L576del, p.Y570_L576del, p.Y578_D579insYIDPTQLPY, p.Y823D | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 23456621 |
| KIT | 6342 | COSM1232, COSM1258, | soft_tissue | gastrointestinal_stromal_tumour | p.V560del, p.W557_V560>C | Complex - deletion inframe, Deletion - In frame | 4:54727439-54727447, 4:54727447-54727449, | Info_not_available | Info_not_available | 16586562 |
| KIT | 6342 | COSM12444, COSM5702501, | soft_tissue | gastrointestinal_stromal_tumour | p.A502_Y503insSA, p.Y503_F504insAY | Insertion - In frame | 4:54726015-54726016, | Info_not_available | Info_not_available | 23459373 |
| KIT | 6342 | COSM30733, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 16596195 |
| KIT | 6342 | COSM1355, | skin | malignant_melanoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 23528057 |
| KIT | 6342 | COSM1326, COSM19311, COSM22376, | soft_tissue | gastrointestinal_stromal_tumour | p.>, p.N564_P573>TS, p.Y503_F504insAY | Complex - deletion inframe, Complex - insertion inframe, Insertion - In frame | 4:54726019-54726020, 4:54727459-54727485, | Info_not_available | Info_not_available | 16610057 |
| KIT | 6342 | COSM1210, COSM12440, COSM12449, COSM12650, COSM12692, COSM12697, COSM1361, COSM18665, COSM18690, COSM25055, COSM25056, COSM25057, COSM25058, COSM25059, COSM25060, COSM25061, COSM25062, COSM25063, | soft_tissue | gastrointestinal_stromal_tumour | p.E562A, p.K558N, p.M552I, p.M552V, p.M552_E554>I, p.M552_E554>K, p.M552_W557del, p.P551_V555del, p.P577K, p.P577L, p.Q556H, p.V559G, p.V560del, p.W557R, p.W557_K558del, p.W557_V559>E, p.Y553_Q556del | Complex - deletion inframe, Deletion - In frame, Substitution - Missense | 4:54727435-54727440, | Info_not_available | Info_not_available | 16685437 |
| KIT | 6342 | COSM12445, COSM12453, COSM1361, COSM18891, COSM19016, COSM214352, COSM24706, COSM308545, | skin | malignant_melanoma | p.?, p.?_?ins?, p.D820Y, p.K642E, p.L576P, p.V559A, p.V560D, p.W557R | Insertion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 23775962 |
| KIT | 6342 | COSM24691, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R815_D816insVI | Insertion - In frame | 4:54733153-54733154, | Info_not_available | Info_not_available | 16741248 |
| KIT | 6342 | COSM1169430, COSM133786, COSM19016, | skin | malignant_melanoma | p.D816N, p.P551L, p.V560D | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 23782496 |
| KIT | 6342 | COSM1192, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del | Deletion - In frame | 4:54727428-54727442, | Info_not_available | Info_not_available | 16770100 |
| KIT | 6342 | COSM1294, | skin | malignant_melanoma | p.D579del | Deletion - In frame | 4:54727503-54727505, | Info_not_available | Info_not_available | 23817129 |
| KIT | 6342 | COSM12444, COSM12448, COSM12449, COSM12453, COSM24815, COSM24816, COSM24817, COSM24818, COSM24819, COSM24820, COSM24821, COSM24822, COSM24823, COSM24824, COSM24825, COSM24826, | soft_tissue | gastrointestinal_stromal_tumour | p.D579E, p.D579del, p.E554_V559del, p.H580_R586del, p.K550_V555del, p.K550_W557>FL, p.M552_K558>NE, p.Q556_V559del, p.S590_F591ins14, p.T574_H580del, p.V555_D572del, p.V559A, p.W557_K558>Y, p.W557_K558del, p.Y503_F504insAY, p.Y553C | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | 4:54727413-54727433, | Info_not_available | Info_not_available | 16785193 |
| KIT | 6342 | COSM5991597, COSM85781, | skin | malignant_melanoma | p.?fs*?, p.D579N | Frameshift, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 23938765 |
| KIT | 6342 | COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 16786129 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 23958953 |
| KIT | 6342 | COSM12444, COSM22425, COSM22426, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_E562del, p.V560E, p.Y503_F504insAY | Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16810068 |
| KIT | 6342 | COSM1247, COSM1294, COSM1684822, | skin | malignant_melanoma | p.D579del, p.P577del, p.V559del | Deletion - In frame | 4:54727443-54727445, 4:54727497-54727499, 4:54727503-54727505, | Info_not_available | Info_not_available | 23993026 |
| KIT | 6342 | COSM12449, COSM12455, COSM1326, COSM18685, COSM18743, COSM19011, COSM21978, COSM23558, COSM24859, COSM25067, COSM25068, COSM25069, COSM25070, COSM25071, COSM25072, COSM25073, | soft_tissue | gastrointestinal_stromal_tumour | p.K558_D572>N, p.K558_V559del, p.K558_V560del, p.M552_E561>K, p.P573_D579del, p.P585_R586insEIS, p.V555_K558del, p.V559_G565del, p.V559del, p.V569_T574del, p.W557_E561>PS, p.W557_K558>CP, p.W557_K558del, p.W557_V560>C, p.Y503_F504insAY, p.Y553_P573del | Complex - compound substitution, Complex - deletion inframe, Deletion - In frame, Insertion - In frame | 4:54726019-54726020, 4:54727439-54727441, | Info_not_available | Info_not_available | 16842246 |
| KIT | 6342 | COSM1355, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 24033149 |
| KIT | 6342 | COSM22275, | soft_tissue | gastrointestinal_stromal_tumour | p.Y553_T574>S | Complex - deletion inframe | 4:54727426-54727488, | Info_not_available | Info_not_available | 16842259 |
| KIT | 6342 | COSM24708, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.T670I | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24335104 |
| KIT | 6342 | COSM12445, COSM12453, COSM12454, COSM27127, COSM28482, COSM28553, COSM28558, | skin | malignant_melanoma | p.?, p.A829P, p.D816H, p.L576P, p.R634W, p.V559A, p.Y553N | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 16908931 |
| KIT | 6342 | COSM1737920, COSM24844, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?, p.D816? | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 24402164 |
| KIT | 6342 | COSM19023, COSM19116, COSM24640, COSM24877, COSM27127, COSM28677, COSM28678, COSM28679, COSM28681, COSM28682, COSM28683, COSM28684, COSM28685, COSM28686, COSM28687, COSM28688, COSM28689, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D419_L421>VHV, p.D419del, p.D816H, p.D816I, p.D816V, p.D816Y, p.L813_A814insSLL, p.N822K, p.N822Y, p.S821_N822>GY, p.T417_D419>I, p.T417_D419>IP, p.T417_D419>NG, p.T417_D419>RG, p.T417_D419>W, p.T417_D419>Y, p.Y418>GFF | Complex - compound substitution, Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 16921041 |
| KIT | 6342 | COSM1294, | thymus | thymic_carcinoma | p.D579del | Deletion - In frame | 4:54727503-54727505, | Info_not_available | Info_not_available | 24419427 |
| KIT | 6342 | COSM23560, | soft_tissue | gastrointestinal_stromal_tumour | p.N564_Y578del | Deletion - In frame | 4:54727458-54727502, | Info_not_available | Info_not_available | 16952044 |
| KIT | 6342 | COSM12434, COSM12445, COSM1357, COSM18686, COSM18891, COSM19016, COSM19023, COSM23419, COSM24640, COSM24641, COSM24707, COSM24708, COSM24709, COSM24815, COSM24838, COSM24859, COSM250035, COSM27071, COSM27121, COSM27122, COSM27124, COSM27125, COSM27126, COSM27127, COSM28692, COSM28693, COSM28999, COSM29001, COSM29322, COSM29350, COSM29870, COSM34207, COSM5702505, | soft_tissue | gastrointestinal_stromal_tumour | p.(449_514)?, p.(P627_G664)fs*?, p.C809G, p.D816H, p.D820A, p.D820E, p.D820G, p.E554_I571del, p.E554_K558del, p.K550_K558del, p.K550_W557>FL, p.K558>NP, p.K558_V559>N, p.K558_V559del, p.K642E, p.L576P, p.M552_W557del, p.N822H, p.N822K, p.N822Y, p.P551_E554del, p.T670I, p.V559_V560del, p.V560D, p.V560G, p.V654A, p.W557G, p.W557_E561del, p.W557_K558del, p.W557_V560>C, p.W557_V560>F, p.Y553_K558del, p.Y823D | Complex - deletion inframe, Complex - insertion inframe, Deletion - In frame, Insertion - Frameshift, Substitution - Missense, Unknown | 4:54728011-54728012, | Info_not_available | Info_not_available | 16954519 |
| KIT | 6342 | COSM18891, | skin | malignant_melanoma | p.K642E | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24457427 |
| KIT | 6342 | COSM21979, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816I | Substitution - Missense | 4:54733154-54733155, | Info_not_available | Info_not_available | 16956837 |
| KIT | 6342 | COSM1737969, COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?, p.D816V | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 24465546 |
| KIT | 6342 | COSM12449, COSM12700, COSM18891, COSM19016, COSM23555, COSM23556, COSM23557, COSM23558, COSM23559, | soft_tissue | gastrointestinal_stromal_tumour | p.I563_L576del, p.K558_V560del, p.K642E, p.M552_I563del, p.M651V, p.P551_W557del, p.V560D, p.V560_L576del, p.W557_K558del | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17089009 |
| KIT | 6342 | COSM19023, | soft_tissue | gastrointestinal_stromal_tumour | p.N822K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24490049 |
| KIT | 6342 | COSM12700, COSM19023, COSM23547, COSM23548, | soft_tissue | gastrointestinal_stromal_tumour | p.N567_P577del, p.N822K, p.V560_I571del, p.V560_L576del | Deletion - In frame, Substitution - Missense | 4:54727446-54727446, | Info_not_available | Info_not_available | 17122634 |
| KIT | 6342 | COSM4169723, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.W557>CS | Complex - insertion inframe | 4:54727438-54727439, | Info_not_available | Info_not_available | 24522528 |
| KIT | 6342 | COSM12700, COSM24640, COSM24641, | soft_tissue | gastrointestinal_stromal_tumour | p.C809G, p.N822Y, p.V560_L576del | Deletion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17139461 |
| KIT | 6342 | COSM1355, COSM27127, COSM36177, COSM4172526, COSM4172563, | skin | malignant_melanoma | p.?, p.D816H, p.L255Q, p.Q556_K558del, p.Y362F | Deletion - In frame, Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 24628946 |
| KIT | 6342 | COSM12444, COSM12449, COSM12453, COSM12454, COSM19011, COSM19016, COSM24702, COSM24859, COSM25008, COSM25009, COSM25010, COSM25011, COSM25012, COSM25013, COSM25014, COSM25015, | soft_tissue | gastrointestinal_stromal_tumour, leiomyoma | p.E554_Q556del, p.E561E, p.I563_T574del, p.L576F, p.L589L, p.N567S, p.V555V, p.V555_V559del, p.V559A, p.V559del, p.V560D, p.W557_K558del, p.W557_V560>C, p.W582_E583insDHKWEN, p.Y503_F504insAY, p.Y553N | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 17145623 |
| KIT | 6342 | COSM12453, COSM33741, COSM3724520, | upper_aerodigestive_tract | carcinoma | p.D52N, p.V559A, p.V559I | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24672248 |
| KIT | 6342 | COSM12449, COSM1355, COSM18745, COSM18890, COSM21958, COSM21981, COSM24833, COSM24834, COSM24835, COSM24836, COSM24837, COSM24838, COSM24839, | soft_tissue | GIST_tumourlet(hyalinizing_stromal_tumour;minute_gastric_sclerosing_stromal_tumour;gross_ICC_hyperplasia) | p.?, p.K550_Y553del, p.L576del, p.N564_L576del, p.N564_T574del, p.Q556_V560del, p.V555_N564del, p.V560G, p.V560_Y578del, p.V569_P577del, p.W557_E561del, p.W557_K558del, p.Y568C | Deletion - In frame, Substitution - Missense, Unknown | 4:54727458-54727490, | Info_not_available | Info_not_available | 17197927 |
| KIT | 6342 | COSM12445, COSM24706, COSM28677, | skin | malignant_melanoma | p.D816V, p.D820Y, p.L576P | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24714776 |
| KIT | 6342 | COSM12435, COSM12444, COSM12449, COSM12455, COSM18672, COSM24709, COSM25032, COSM25033, COSM25034, COSM25035, COSM25036, COSM25037, | soft_tissue | gastrointestinal_stromal_tumour | p.E554_K558del, p.K550_E554del, p.N587_R588ins15, p.P551_V559del, p.P551_Y553del, p.Q556_V559>H, p.V559D, p.V559_G565del, p.V654A, p.W557_K558del, p.W557_Y570del, p.Y503_F504insAY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17200352 |
| KIT | 6342 | COSM28677, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.D816V | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24724063 |
| KIT | 6342 | COSM1326, | soft_tissue | gastrointestinal_stromal_tumour | p.Y503_F504insAY | Insertion - In frame | 4:54726019-54726020, | Info_not_available | Info_not_available | 17229322 |
| KIT | 6342 | COSM12445, COSM1361, COSM18891, COSM3734987, | skin | malignant_melanoma | p.K642E, p.L576P, p.W557R, p.Y646H | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24842760 |
| KIT | 6342 | COSM1157, COSM12434, COSM12435, COSM12443, COSM12445, COSM12449, COSM12453, COSM12697, COSM12714, COSM1361, COSM18690, COSM18830, COSM18891, COSM19011, COSM19016, COSM22425, COSM25075, COSM25076, COSM25077, COSM25078, COSM25079, COSM25080, | soft_tissue | gastrointestinal_stromal_tumour | p.K550_K558del, p.K558_P573>R, p.K642E, p.L576P, p.L589_S590ins13, p.M552_W557del, p.P551_Q556>HV, p.P585_R586ins12, p.Q556_V559>PF, p.R586_N587ins13, p.V559A, p.V559D, p.V559G, p.V559del, p.V560D, p.V560E, p.V569_Q575>E, p.W557G, p.W557R, p.W557_K558del, p.Y553_W557del, p.Y578_D579insPY | Complex - deletion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 17240304 |
| KIT | 6342 | COSM1357, COSM24708, COSM34126, COSM3737059, | soft_tissue | gastrointestinal_stromal_tumour | p.H580_K581insPTQLPYDH, p.K558>NP, p.M552_V559>I, p.T670I | Complex - deletion inframe, Complex - insertion inframe, Insertion - In frame, Substitution - Missense | 4:54727423-54727443, 4:54727508-54727509, | Info_not_available | Info_not_available | 24908143 |
| KIT | 6342 | COSM1241, COSM1600403, | genital_tract | germ_cell_tumour | p.K558_V560>I, p.R634W | Complex - deletion inframe, Substitution - Missense | 4:54727441-54727446, 4:54728031-54728031, | Info_not_available | 0.69182, Info_not_available | 26956871 |
| KIT | 6342 | COSM1217, COSM1355, COSM1600397, COSM1600398, COSM1600400, COSM1600403, COSM1600404, COSM22395, COSM29014, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.?, p.D419del, p.D816H, p.R634W, p.T417_Y418>FRL, p.W557_K558del, p.Y418_D419insFF | Complex - insertion inframe, Deletion - In frame, Insertion - In frame, Substitution - Missense, Unknown | 4:54723601-54723606, 4:54723606-54723607, 4:54723607-54723609, 4:54723607-54723610, 4:54727437-54727442, 4:54728031-54728031, 4:54733154-54733156, | Info_not_available | 0.69182, Info_not_available | 22886749 |
| KIT | 6342 | COSM1600403, | genital_tract | germ_cell_tumour | p.R634W | Substitution - Missense | 4:54728031-54728031, | Info_not_available | 0.69182 | 24452629 |
| KIT | 6342 | COSM327109, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.A698A | Substitution - coding silent | 4:54729438-54729438, | Info_not_available | 0.68419 | 22675565 |
| KIT | 6342 | COSM1272081, COSM1272083, COSM1272085, COSM1272086, COSM1272090, COSM1272091, COSM1272092, COSM33971, | breast | carcinoma | p.D496V, p.D723K, p.K558A, p.P467H, p.R796A, p.R796P, p.T417D, p.V559P | Substitution - Missense | 4:54723601-54723602, 4:54725910-54725911, 4:54725997-54725997, 4:54727440-54727441, 4:54727443-54727444, 4:54731353-54731355, 4:54733094-54733095, | Info_not_available | 0.67134, Info_not_available | 23582602 |
| KIT | 6342 | COSM33971, | salivary_gland | carcinoma | p.D496V | Substitution - Missense | 4:54725997-54725997, | Info_not_available | 0.67134 | 19617878 |
| KIT | 6342 | COSM19264, | soft_tissue | gastrointestinal_stromal_tumour | p.P456S | Substitution - Missense | 4:54725876-54725876, | Info_not_available | 0.62729 | 15795882 |
| KIT | 6342 | COSM4604281, | upper_aerodigestive_tract | carcinoma | p.D45N | Substitution - Missense | 4:54695577-54695577, | Info_not_available | 0.62259 | 25056374 |
| KIT | 6342 | COSM4604281, | skin | adnexal_tumour | p.D45N | Substitution - Missense | 4:54695577-54695577, | Info_not_available | 0.62259 | 27311873 |
| KIT | 6342 | COSM22226, | genital_tract | germ_cell_tumour | p.T96M | Substitution - Missense | 4:54695731-54695731, | Info_not_available | 0.60706 | 16572634 |
| KIT | 6342 | COSM3301469, COSM5609254, | skin | malignant_melanoma | p.L890L, p.R739R | Substitution - coding silent | 4:54731403-54731403, 4:54736794-54736794, | Info_not_available | 0.6037, .67509 | 26343386 |
| KIT | 6342 | COSM133754, COSM133778, COSM133784, COSM133786, | skin | malignant_melanoma | p.D816N, p.I571_L576del, p.L656R, p.V489I | Deletion - In frame, Substitution - Missense | 4:54725975-54725975, 4:54727479-54727496, | Info_not_available | 0.56145, Info_not_available | 21325067 |
| KIT | 6342 | COSM6437975, COSM6438031, | large_intestine | carcinoma | p.A700V, p.I744L | Substitution - Missense | 4:54729443-54729443, 4:54731416-54731416, | Info_not_available | 0.54965, .6613 | 27756406 |
| KIT | 6342 | COSM1160, COSM1176, COSM1177, COSM1210, COSM1213, COSM1226, COSM1247, COSM1289, COSM1330, COSM21976, COSM231534, COSM255168, COSM27069, COSM287381, COSM6909487, COSM6917451, COSM6917630, COSM6922192, COSM6922994, COSM6923694, COSM6923771, COSM6925735, COSM6934157, COSM6934224, COSM6934681, COSM6934833, COSM6936468, COSM6938770, COSM6938892, COSM6939524, COSM6940807, COSM6944981, COSM6946777, COSM6947342, COSM6948027, COSM6948216, COSM6951209, COSM6951399, COSM6951482, COSM6952826, COSM6953101, COSM6954545, COSM6954755, COSM6954756, COSM6955356, COSM6956264, COSM6957862, COSM6957947, COSM6959038, COSM6960108, COSM6961363, COSM6963400, COSM6965292, COSM6971267, COSM6971633, COSM6972194, COSM6972689, COSM6973184, COSM6977972, COSM6977976, COSM6978182, COSM6978485, COSM6980265, COSM6982014, COSM6983718, COSM6985356, COSM6985971, COSM6986076, COSM6986294, COSM6986506, COSM96887, | NS, breast, endometrium, large_intestine, liver, lung, oesophagus, skin, soft_tissue, testis, urinary_tract | carcinoma, fibrosarcoma, gastrointestinal_stromal_tumour, germ_cell_tumour, malignant_melanoma | p.?, p.C97fs*1, p.D496N, p.D579del, p.E514K, p.H580_K581insLPYDH, p.H580_K581insTQLPYDH, p.H973D, p.I669_T670>MI, p.K492E, p.K509fs*2, p.K550_E554>I, p.K550_P551>I, p.K550_P551del, p.K550_V555>Q, p.K550_W557>IL, p.K550_W557>IR, p.K550fs*13, p.K558>NP, p.K558_V560>L, p.K558_V560>N, p.K558_V560delKVV, p.K913Q, p.K948fs*>29, p.L576>MITNGSD, p.L576del, p.L682fs*6, p.M552_E554>I, p.M552_V555>I, p.M552_V555delMYEV, p.M552_W557del, p.M552_Y570del19, p.N566_P573delNNYVYIDP, p.P551_M552>L, p.P551_V555delPMYEV, p.P551_Y553>H, p.Q21fs*9, p.Q556_D572del17, p.Q556_V560>H, p.Q556_V560>RG, p.Q575delQ, p.R914fs*12, p.R946*, p.S24F, p.S867_S868insRS, p.V20I, p.V559_E561delVVE, p.V559_G565delVVEEING, p.V559_N566>D, p.V559_P573del15, p.V559_V560>AD, p.V559del, p.W557_E561>PS, p.W557_E561>Q, p.W557_E561del, p.W557_K558>C, p.W557_K558>Q, p.W557_K558del, p.W557_K558delWK, p.W557_V559>F, p.Y503_F504insAY, p.Y553_E554delYE, p.Y570_L576delYIDPTQL, p.Y578_D579insEQQLPY, p.Y823delY | Complex - compound substitution, Complex - deletion inframe, Complex - frameshift, Complex - insertion inframe, Deletion - Frameshift, Deletion - In frame, Insertion - Frameshift, Insertion - In frame, Substitution - Missense, Substitution - Nonsense, Unknown | 4:54658072-54658072, 4:54658074-54658074, 4:54695515-54695515, 4:54695735-54695735, 4:54709539-54709542, 4:54725984-54725984, 4:54725996-54725996, 4:54726012-54726013, 4:54726037-54726039, 4:54726050-54726050, 4:54727410-54727440, 4:54727412-54727432, 4:54727414-54727440, 4:54727416-54727421, 4:54727416-54727432, 4:54727417-54727421, 4:54727417-54727422, 4:54727417-54727429, 4:54727417-54727437, 4:54727417-54727438, 4:54727418-54727432, 4:54727420-54727422, 4:54727420-54727425, 4:54727421-54727432, 4:54727421-54727438, 4:54727421-54727477, 4:54727423-54727431, 4:54727424-54727429, 4:54727425-54727430, 4:54727433-54727440, 4:54727433-54727483, 4:54727434-54727484, 4:54727435-54727440, 4:54727435-54727448, 4:54727435-54727449, 4:54727436-54727447, 4:54727436-54727450, 4:54727436-54727451, 4:54727437-54727440, 4:54727438-54727443, 4:54727439-54727442, 4:54727440-54727448, 4:54727441-54727442, 4:54727441-54727449, 4:54727442-54727447, 4:54727442-54727462, 4:54727443-54727445, 4:54727443-54727487, 4:54727444-54727447, 4:54727444-54727464, 4:54727463-54727486, 4:54727465-54727488, 4:54727474-54727494, 4:54727487-54727488, 4:54727489-54727490, 4:54727490-54727492, 4:54727494-54727495, 4:54727494-54727496, 4:54727496-54727497, 4:54727501-54727503, 4:54729351-54729353, 4:54729383-54729384, 4:54731907-54732158, 4:54733173-54733175, 4:54736720-54736721, 4:54737213-54737214, 4:54737215-54737215, 4:54738462-54738462, 4:54738466-54738467, 4:54738543-54738543, | Info_not_available | 0.52292, .52901, .54137, .58756, .61192, .6333, .67962, .69969, Info_not_available | 28481359 |
| KIT | 6342 | COSM6849704, | breast | carcinoma | p.V951I | Substitution - Missense | 4:54738477-54738477, | Info_not_available | 0.50308 | 28270497 |