General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 1612 |
Name | DAPK1 |
Synonymous | death-associated protein kinase 1;DAPK1;death-associated protein kinase 1 |
Definition | DAP kinase 1 |
Position | 9q21.33 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.09. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.2540A>T; p.E847V; 9:87697133-87697133 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2540A>T; p.E847V; 9:87697133-87697133 |
large_intestine; colon | adenoma | Substitution - Missense |
c.3664G>T; p.V1222F; 9:87706735-87706735 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3421C>T; p.P1141S; 9:87706492-87706492 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3542C>T; p.A1181V; 9:87706613-87706613 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3815_3816insG; p.Y1275fs*64; 9:87706886-87706887 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3815_3816insG; p.Y1275fs*64; 9:87706886-87706887 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.240C>T; p.H80H; 9:87605131-87605131 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2854C>T; p.R952*; 9:87700220-87700220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.240C>T; p.H80H; 9:87605131-87605131 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1968G>C; p.E656D; 9:87668641-87668641 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3561G>T; p.L1187L; 9:87706632-87706632 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4000T>C; p.L1334L; 9:87707071-87707071 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2159G>A; p.R720Q; 9:87681561-87681561 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2189G>A; p.R730K; 9:87681591-87681591 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2319G>A; p.M773I; 9:87686645-87686645 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1486G>T; p.A496S; 9:87649978-87649978 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2703G>A; p.E901E; 9:87698747-87698747 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3864C>T; p.H1288H; 9:87706935-87706935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.760A>C; p.R254R; 9:87640428-87640428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2611+3G>T; p.?; 9:87697207-87697207 |
liver | carcinoma | Unknown |
c.3385G>A; p.V1129M; 9:87706456-87706456 |
large_intestine; colon | adenoma | Substitution - Missense |
c.1573G>A; p.D525N; 9:87650065-87650065 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1573G>A; p.D525N; 9:87650065-87650065 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1573G>A; p.D525N; 9:87650065-87650065 |
prostate | carcinoma | Substitution - Missense |
c.1192C>G; p.L398V; 9:87646521-87646521 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3274G>A; p.A1092T; 9:87706345-87706345 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1291C>G; p.L431V; 9:87647365-87647365 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.906_907insA; p.W305fs*23; 9:87642046-87642047 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2088G>A; p.S696S; 9:87681490-87681490 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4252G>A; p.G1418S; 9:87707323-87707323 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2301G>A; p.P767P; 9:87686627-87686627 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1560C>T; p.A520A; 9:87650052-87650052 |
kidney | other; neoplasm | Substitution - coding silent |
c.2834G>A; p.R945Q; 9:87700200-87700200 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1936G>A; p.A646T; 9:87668609-87668609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3534C>T; p.N1178N; 9:87706605-87706605 |
skin | malignant_melanoma | Substitution - coding silent |
c.2834G>A; p.R945Q; 9:87700200-87700200 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.120C>A; p.A40A; 9:87605011-87605011 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.919-8A>T; p.?; 9:87643368-87643368 |
liver | carcinoma | Unknown |
c.3645G>A; p.V1215V; 9:87706716-87706716 |
skin | malignant_melanoma | Substitution - coding silent |
c.696C>T; p.V232V; 9:87640364-87640364 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2665G>A; p.A889T; 9:87698709-87698709 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3210G>A; p.Q1070Q; 9:87706281-87706281 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4164C>A; p.A1388A; 9:87707235-87707235 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.3741G>A; p.E1247E; 9:87706812-87706812 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.461A>C; p.K154T; 9:87639391-87639391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3003C>T; p.P1001P; 9:87703160-87703160 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2491G>A; p.D831N; 9:87697084-87697084 |
breast | carcinoma | Substitution - Missense |
c.130A>G; p.I44V; 9:87605021-87605021 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4017C>T; p.L1339L; 9:87707088-87707088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.130A>G; p.I44V; 9:87605021-87605021 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3687G>T; p.G1229G; 9:87706758-87706758 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2161C>T; p.P721S; 9:87681563-87681563 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1521G>T; p.K507N; 9:87650013-87650013 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2161C>T; p.P721S; 9:87681563-87681563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2586C>T; p.S862S; 9:87697179-87697179 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3446A>G; p.Q1149R; 9:87706517-87706517 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3446A>G; p.Q1149R; 9:87706517-87706517 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.425C>A; p.P142H; 9:87639355-87639355 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3928C>T; p.R1310W; 9:87706999-87706999 |
breast | carcinoma | Substitution - Missense |
c.1935G>A; p.T645T; 9:87668608-87668608 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.294T>A; p.G98G; 9:87637952-87637952 |
breast | carcinoma | Substitution - coding silent |
c.2580G>T; p.L860L; 9:87697173-87697173 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3130G>A; p.V1044I; 9:87706201-87706201 |
pancreas | carcinoma | Substitution - Missense |
c.2031G>T; p.Q677H; 9:87681433-87681433 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3138G>A; p.G1046G; 9:87706209-87706209 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1704T>C; p.C568C; 9:87651604-87651604 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2839C>A; p.H947N; 9:87700205-87700205 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4059C>T; p.F1353F; 9:87707130-87707130 |
skin | malignant_melanoma | Substitution - coding silent |
c.1707C>T; p.F569F; 9:87651607-87651607 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1842G>A; p.L614L; 9:87658046-87658046 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1842G>A; p.L614L; 9:87658046-87658046 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3341G>A; p.R1114H; 9:87706412-87706412 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2453C>T; p.P818L; 9:87697046-87697046 |
skin | malignant_melanoma | Substitution - Missense |
c.2577C>T; p.F859F; 9:87697170-87697170 |
skin | malignant_melanoma | Substitution - coding silent |
c.2332G>T; p.V778L; 9:87686658-87686658 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3454C>T; p.L1152L; 9:87706525-87706525 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.928C>T; p.R310C; 9:87643385-87643385 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2199T>A; p.P733P; 9:87681601-87681601 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3069C>T; p.I1023I; 9:87706140-87706140 |
breast | carcinoma; lobular_carcinoma | Substitution - coding silent |
c.3069C>T; p.I1023I; 9:87706140-87706140 |
breast | carcinoma; lobular_carcinoma | Substitution - coding silent |
c.928C>T; p.R310C; 9:87643385-87643385 |
skin | malignant_melanoma | Substitution - Missense |
c.3253C>A; p.L1085I; 9:87706324-87706324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2220C>T; p.P740P; 9:87681622-87681622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13A>G; p.R5G; 9:87499090-87499090 |
breast | carcinoma | Substitution - Missense |
c.2340G>A; p.P780P; 9:87686666-87686666 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.173G>A; p.R58H; 9:87605064-87605064 |
oesophagus | carcinoma | Substitution - Missense |
c.1244_1245CC>TT; p.A415V; 9:87647318-87647319 |
skin | malignant_melanoma | Substitution - Missense |
c.1599T>C; p.H533H; 9:87650091-87650091 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1244_1245CC>TT; p.A415V; 9:87647318-87647319 |
skin | malignant_melanoma | Substitution - Missense |
c.173G>A; p.R58H; 9:87605064-87605064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025C>T; p.S342F; 9:87645908-87645908 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1025C>T; p.S342F; 9:87645908-87645908 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.265G>A; p.V89I; 9:87605156-87605156 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1525C>A; p.R509R; 9:87650017-87650017 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.370C>T; p.L124F; 9:87638028-87638028 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2430C>T; p.S810S; 9:87697023-87697023 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.273G>T; p.L91L; 9:87605164-87605164 |
breast | carcinoma | Substitution - coding silent |
c.2288T>C; p.M763T; 9:87686614-87686614 |
breast | carcinoma | Substitution - Missense |
c.276C>T; p.I92I; 9:87605167-87605167 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1743C>T; p.L581L; 9:87651643-87651643 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.172C>T; p.R58C; 9:87605063-87605063 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.919-9A>T; p.?; 9:87643367-87643367 |
liver | carcinoma | Unknown |
c.919-9A>T; p.?; 9:87643367-87643367 |
liver | carcinoma | Unknown |
c.1711G>A; p.D571N; 9:87651611-87651611 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.925G>A; p.V309I; 9:87643382-87643382 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3442G>T; p.V1148F; 9:87706513-87706513 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.714T>C; p.D238D; 9:87640382-87640382 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1231G>T; p.G411C; 9:87647305-87647305 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.286G>A; p.V96I; 9:87637944-87637944 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.286G>A; p.V96I; 9:87637944-87637944 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.894G>A; p.K298K; 9:87642034-87642034 |
prostate | carcinoma | Substitution - coding silent |
c.1772C>T; p.P591L; 9:87651672-87651672 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4098C>T; p.T1366T; 9:87707169-87707169 |
skin | malignant_melanoma | Substitution - coding silent |
c.2883C>T; p.P961P; 9:87703040-87703040 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.923C>T; p.S308F; 9:87643380-87643380 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3187C>T; p.R1063C; 9:87706258-87706258 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.640G>A; p.A214T; 9:87640308-87640308 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3420C>T; p.F1140F; 9:87706491-87706491 |
skin | malignant_melanoma | Substitution - coding silent |
c.3187C>T; p.R1063C; 9:87706258-87706258 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2833_2834CG>TA; p.R945*; 9:87700199-87700200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3287G>A; p.S1096N; 9:87706358-87706358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3597C>T; p.R1199R; 9:87706668-87706668 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2455G>T; p.V819L; 9:87697048-87697048 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3597C>T; p.R1199R; 9:87706668-87706668 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1746T>A; p.H582Q; 9:87651646-87651646 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1934C>T; p.T645M; 9:87668607-87668607 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.59G>A; p.G20D; 9:87499136-87499136 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.553G>A; p.A185T; 9:87639483-87639483 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.59G>A; p.G20D; 9:87499136-87499136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.118G>A; p.A40T; 9:87605009-87605009 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2833C>T; p.R945*; 9:87700199-87700199 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2833C>T; p.R945*; 9:87700199-87700199 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4174T>A; p.L1392M; 9:87707245-87707245 |
breast | carcinoma | Substitution - Missense |
c.1574A>G; p.D525G; 9:87650066-87650066 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3393C>T; p.I1131I; 9:87706464-87706464 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4037G>A; p.S1346N; 9:87707108-87707108 |
thyroid | other; neoplasm | Substitution - Missense |
c.3711G>A; p.L1237L; 9:87706782-87706782 |
breast | carcinoma | Substitution - coding silent |
c.4037G>A; p.S1346N; 9:87707108-87707108 |
thyroid | other; neoplasm | Substitution - Missense |
c.868G>C; p.A290P; 9:87642008-87642008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2727G>A; p.S909S; 9:87698771-87698771 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4220G>A; p.G1407D; 9:87707291-87707291 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4238C>T; p.S1413L; 9:87707309-87707309 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2727G>A; p.S909S; 9:87698771-87698771 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3489C>T; p.G1163G; 9:87706560-87706560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3489C>T; p.G1163G; 9:87706560-87706560 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3489C>T; p.G1163G; 9:87706560-87706560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2266G>A; p.V756M; 9:87686592-87686592 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2090G>A; p.G697E; 9:87681492-87681492 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.405C>T; p.I135I; 9:87638063-87638063 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3674C>T; p.T1225I; 9:87706745-87706745 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3771C>A; p.F1257L; 9:87706842-87706842 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1289T>A; p.F430Y; 9:87647363-87647363 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3151G>A; p.V1051M; 9:87706222-87706222 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3466A>T; p.I1156F; 9:87706537-87706537 |
breast | carcinoma | Substitution - Missense |
c.132C>G; p.I44M; 9:87605023-87605023 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.982A>G; p.M328V; 9:87643439-87643439 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4042G>T; p.G1348W; 9:87707113-87707113 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2499G>T; p.T833T; 9:87697092-87697092 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.157C>T; p.R53W; 9:87605048-87605048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.338A>T; p.E113V; 9:87637996-87637996 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3444C>A; p.V1148V; 9:87706515-87706515 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2543T>C; p.I848T; 9:87697136-87697136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2544C>T; p.I848I; 9:87697137-87697137 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.3600C>G; p.G1200G; 9:87706671-87706671 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.92G>A; p.R31H; 9:87604983-87604983 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.92G>A; p.R31H; 9:87604983-87604983 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.96G>T; p.E32D; 9:87604987-87604987 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.814C>T; p.H272Y; 9:87640833-87640833 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3389G>A; p.R1130H; 9:87706460-87706460 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.814C>T; p.H272Y; 9:87640833-87640833 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.754A>C; p.I252L; 9:87640422-87640422 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814C>T; p.H272Y; 9:87640833-87640833 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4148T>C; p.L1383P; 9:87707219-87707219 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1302delC; p.N434fs*7; 9:87647376-87647376 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.46G>C; p.G16R; 9:87499123-87499123 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.866C>G; p.S289*; 9:87642006-87642006 |
breast | carcinoma | Substitution - Nonsense |
c.2402C>T; p.A801V; 9:87686728-87686728 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3847A>G; p.M1283V; 9:87706918-87706918 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1997G>A; p.R666Q; 9:87668670-87668670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.539C>T; p.T180I; 9:87639469-87639469 |
skin | malignant_melanoma | Substitution - Missense |
c.1345C>A; p.L449I; 9:87648796-87648796 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2876G>C; p.C959S; 9:87703033-87703033 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2876G>C; p.C959S; 9:87703033-87703033 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2876G>C; p.C959S; 9:87703033-87703033 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2876G>C; p.C959S; 9:87703033-87703033 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2876G>C; p.C959S; 9:87703033-87703033 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.340G>A; p.E114K; 9:87637998-87637998 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.356_374del19; p.F119fs*21; 9:87638014-87638032 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.3798C>A; p.T1266T; 9:87706869-87706869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3583G>C; p.E1195Q; 9:87706654-87706654 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4164C>T; p.A1388A; 9:87707235-87707235 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.748G>T; p.D250Y; 9:87640416-87640416 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.640G>C; p.A214P; 9:87640308-87640308 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1044C>T; p.I348I; 9:87645927-87645927 |
stomach | adenocarcinoma | Substitution - coding silent |
c.3012C>T; p.S1004S; 9:87703169-87703169 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1330-2A>T; p.?; 9:87648779-87648779 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2571C>G; p.L857L; 9:87697164-87697164 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3666C>T; p.V1222V; 9:87706737-87706737 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1538C>T; p.T513M; 9:87650030-87650030 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2388C>T; p.I796I; 9:87686714-87686714 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.120C>T; p.A40A; 9:87605011-87605011 |
breast | carcinoma | Substitution - coding silent |
c.3815_3816insGG; p.Y1275fs*32; 9:87706886-87706887 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1966G>A; p.E656K; 9:87668639-87668639 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3133C>A; p.L1045M; 9:87706204-87706204 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.879G>A; p.M293I; 9:87642019-87642019 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.444G>C; p.L148F; 9:87639374-87639374 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1556C>T; p.S519F; 9:87650048-87650048 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1556C>T; p.S519F; 9:87650048-87650048 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.836A>T; p.D279V; 9:87641976-87641976 |
liver | carcinoma | Substitution - Missense |
c.4111A>T; p.S1371C; 9:87707182-87707182 |
liver | carcinoma | Substitution - Missense |
c.2960C>T; p.S987L; 9:87703117-87703117 |
skin | malignant_melanoma | Substitution - Missense |
c.365A>T; p.Q122L; 9:87638023-87638023 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3990C>T; p.L1330L; 9:87707061-87707061 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1521G>A; p.K507K; 9:87650013-87650013 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1444C>T; p.L482L; 9:87649936-87649936 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1151T>C; p.L384P; 9:87646480-87646480 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2518T>C; p.F840L; 9:87697111-87697111 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.818C>G; p.P273R; 9:87640837-87640837 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4227G>T; p.E1409D; 9:87707298-87707298 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3486G>T; p.E1162D; 9:87706557-87706557 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2116T>A; p.S706T; 9:87681518-87681518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1738C>T; p.P580S; 9:87651638-87651638 |
skin | malignant_melanoma | Substitution - Missense |
c.1429G>A; p.E477K; 9:87649921-87649921 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1738C>T; p.P580S; 9:87651638-87651638 |
skin | malignant_melanoma | Substitution - Missense |
c.2116T>A; p.S706T; 9:87681518-87681518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.592G>A; p.A198T; 9:87639688-87639688 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1480G>A; p.A494T; 9:87649972-87649972 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2294T>C; p.F765S; 9:87686620-87686620 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3521G>A; p.C1174Y; 9:87706592-87706592 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2542A>G; p.I848V; 9:87697135-87697135 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2214T>A; p.S738S; 9:87681616-87681616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2214T>A; p.S738S; 9:87681616-87681616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2542A>G; p.I848V; 9:87697135-87697135 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2542A>G; p.I848V; 9:87697135-87697135 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3176A>G; p.H1059R; 9:87706247-87706247 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3543C>T; p.A1181A; 9:87706614-87706614 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3744C>T; p.P1248P; 9:87706815-87706815 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3816delG; p.Y1275fs*31; 9:87706887-87706887 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3816delG; p.Y1275fs*31; 9:87706887-87706887 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3816delG; p.Y1275fs*31; 9:87706887-87706887 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3816delG; p.Y1275fs*31; 9:87706887-87706887 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3678G>A; p.T1226T; 9:87706749-87706749 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3865G>A; p.D1289N; 9:87706936-87706936 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2314G>A; p.G772R; 9:87686640-87686640 |
skin | malignant_melanoma | Substitution - Missense |
c.3897C>A; p.D1299E; 9:87706968-87706968 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3093C>T; p.D1031D; 9:87706164-87706164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.401A>G; p.Q134R; 9:87638059-87638059 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3924C>T; p.L1308L; 9:87706995-87706995 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2035C>T; p.R679*; 9:87681437-87681437 |
thyroid | carcinoma | Substitution - Nonsense |
c.1351G>A; p.V451M; 9:87648802-87648802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3524A>T; p.K1175M; 9:87706595-87706595 |
liver | carcinoma | Substitution - Missense |
c.1351G>A; p.V451M; 9:87648802-87648802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3408C>G; p.H1136Q; 9:87706479-87706479 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.297C>T; p.G99G; 9:87637955-87637955 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3524A>T; p.K1175M; 9:87706595-87706595 |
liver | carcinoma | Substitution - Missense |
c.1351G>A; p.V451M; 9:87648802-87648802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2352G>A; p.P784P; 9:87686678-87686678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.548T>G; p.F183C; 9:87639478-87639478 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1275C>T; p.V425V; 9:87647349-87647349 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.950G>T; p.R317I; 9:87643407-87643407 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.811C>T; p.Q271*; 9:87640830-87640830 |
pancreas | carcinoma | Substitution - Nonsense |
c.388C>T; p.L130L; 9:87638046-87638046 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.312C>T; p.F104F; 9:87637970-87637970 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.553+9C>G; p.?; 9:87639492-87639492 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2098delA; p.T701fs*4; 9:87681500-87681500 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1500C>T; p.A500A; 9:87649992-87649992 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2664C>T; p.H888H; 9:87698708-87698708 |
pancreas | carcinoma | Substitution - coding silent |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1593C>T; p.A531A; 9:87650085-87650085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.356T>G; p.F119C; 9:87638014-87638014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1593C>T; p.A531A; 9:87650085-87650085 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4106C>A; p.P1369H; 9:87707177-87707177 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3481A>G; p.T1161A; 9:87706552-87706552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.904C>T; p.R302W; 9:87642044-87642044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1360C>T; p.R454C; 9:87648811-87648811 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1360C>T; p.R454C; 9:87648811-87648811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1235G>T; p.G412V; 9:87647309-87647309 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1360C>T; p.R454C; 9:87648811-87648811 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1360C>T; p.R454C; 9:87648811-87648811 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3349G>T; p.A1117S; 9:87706420-87706420 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3678G>T; p.T1226T; 9:87706749-87706749 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.2750+8G>T; p.?; 9:87698802-87698802 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1170G>T; p.G390G; 9:87646499-87646499 |
pancreas | carcinoma | Substitution - coding silent |
c.393C>T; p.H131H; 9:87638051-87638051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.735T>C; p.S245S; 9:87640403-87640403 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2198C>T; p.P733L; 9:87681600-87681600 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1208C>T; p.S403L; 9:87646537-87646537 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1608C>T; p.D536D; 9:87650100-87650100 |
liver | carcinoma | Substitution - coding silent |
c.1608C>T; p.D536D; 9:87650100-87650100 |
liver | carcinoma | Substitution - coding silent |
c.3150C>T; p.S1050S; 9:87706221-87706221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1042A>G; p.I348V; 9:87645925-87645925 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2437G>A; p.E813K; 9:87697030-87697030 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.75G>A; p.A25A; 9:87604966-87604966 |
pancreas | carcinoma | Substitution - coding silent |
c.3835T>G; p.F1279V; 9:87706906-87706906 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1320G>T; p.V440V; 9:87647394-87647394 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2121C>G; p.L707L; 9:87681523-87681523 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3595C>T; p.R1199C; 9:87706666-87706666 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2798C>T; p.A933V; 9:87700164-87700164 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2290A>G; p.M764V; 9:87686616-87686616 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.227T>C; p.V76A; 9:87605118-87605118 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.227T>C; p.V76A; 9:87605118-87605118 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3363C>T; p.D1121D; 9:87706434-87706434 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.609C>T; p.I203I; 9:87639795-87639795 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1708G>A; p.V570I; 9:87651608-87651608 |
breast | carcinoma | Substitution - Missense |
c.3132C>T; p.V1044V; 9:87706203-87706203 |
skin | malignant_melanoma | Substitution - coding silent |
c.1401C>T; p.F467F; 9:87648852-87648852 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3140A>C; p.K1047T; 9:87706211-87706211 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1861G>A; p.G621R; 9:87658065-87658065 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.703G>A; p.E235K; 9:87640371-87640371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3775C>T; p.R1259W; 9:87706846-87706846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3775C>T; p.R1259W; 9:87706846-87706846 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3211C>T; p.R1071C; 9:87706282-87706282 |
pancreas | carcinoma | Substitution - Missense |
c.786G>C; p.K262N; 9:87640805-87640805 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |