General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 2042 |
Name | EPHA3 |
Synonymous | EPH receptor A3;EPHA3;EPH receptor A3 |
Definition | EPH-like kinase 4|TYRO4 protein tyrosine kinase|eph-like tyrosine kinase 1|ephrin type-A receptor 3|human embryo kinase 1|tyrosine-protein kinase receptor ETK1 |
Position | 3p11.2 |
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 0.08. |
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.1826T>C; p.V609A; 3:89413204-89413204 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1305T>C; p.A435A; 3:89342089-89342089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.701C>A; p.S234Y; 3:89210407-89210407 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1099G>T; p.G367W; 3:89341883-89341883 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.807G>A; p.M269I; 3:89210513-89210513 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1178C>A; p.T393K; 3:89341962-89341962 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1066G>A; p.D356N; 3:89341850-89341850 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1843G>A; p.E615K; 3:89413221-89413221 |
skin | malignant_melanoma | Substitution - Missense |
c.2903G>A; p.S968N; 3:89479453-89479453 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.663G>T; p.Q221H; 3:89210369-89210369 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.879C>T; p.H293H; 3:89340980-89340980 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.2821G>A; p.D941N; 3:89472594-89472594 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1237A>T; p.N413Y; 3:89342021-89342021 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2030T>A; p.F677Y; 3:89419346-89419346 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.722G>A; p.R241K; 3:89210428-89210428 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.620A>C; p.K207T; 3:89210326-89210326 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2298A>G; p.G766G; 3:89431311-89431311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2030T>A; p.F677Y; 3:89419346-89419346 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.620A>C; p.K207T; 3:89210326-89210326 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2741G>A; p.R914H; 3:89472514-89472514 |
skin | malignant_melanoma | Substitution - Missense |
c.2741G>A; p.R914H; 3:89472514-89472514 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2686G>A; p.A896T; 3:89450366-89450366 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1646C>T; p.A549V; 3:89407320-89407320 |
kidney | other; neoplasm | Substitution - Missense |
c.1337A>G; p.D446G; 3:89395867-89395867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2515G>T; p.E839*; 3:89450195-89450195 |
breast | carcinoma | Substitution - Nonsense |
c.2314G>A; p.E772K; 3:89431327-89431327 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2295C>T; p.F765F; 3:89431308-89431308 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2295C>T; p.F765F; 3:89431308-89431308 |
skin | malignant_melanoma | Substitution - coding silent |
c.2042A>G; p.N681S; 3:89419358-89419358 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.80C>A; p.S27Y; 3:89107828-89107828 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.616G>T; p.V206L; 3:89210322-89210322 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1952C>T; p.A651V; 3:89419268-89419268 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1347C>T; p.S449S; 3:89395877-89395877 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1989G>A; p.Q663Q; 3:89419305-89419305 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1347C>T; p.S449S; 3:89395877-89395877 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1727C>A; p.A576E; 3:89408096-89408096 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2002C>A; p.L668M; 3:89419318-89419318 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.920A>T; p.E307V; 3:89341021-89341021 |
liver | carcinoma | Substitution - Missense |
c.1515C>A; p.Y505*; 3:89399401-89399401 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.866A>T; p.K289M; 3:89340967-89340967 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1773A>C; p.P591P; 3:89413151-89413151 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2345G>T; p.R782I; 3:89431358-89431358 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1773A>C; p.P591P; 3:89413151-89413151 |
liver | carcinoma | Substitution - coding silent |
c.500A>G; p.E167G; 3:89210206-89210206 |
ovary | other; neoplasm | Substitution - Missense |
c.1773A>C; p.P591P; 3:89413151-89413151 |
liver | carcinoma | Substitution - coding silent |
c.2494G>A; p.D832N; 3:89449372-89449372 |
breast | carcinoma | Substitution - Missense |
c.500A>G; p.E167G; 3:89210206-89210206 |
ovary | other; neoplasm | Substitution - Missense |
c.2788G>A; p.E930K; 3:89472561-89472561 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.2788G>A; p.E930K; 3:89472561-89472561 |
skin | malignant_melanoma | Substitution - Missense |
c.2788G>A; p.E930K; 3:89472561-89472561 |
skin | malignant_melanoma | Substitution - Missense |
c.2497-2A>T; p.?; 3:89450175-89450175 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1065A>G; p.K355K; 3:89341849-89341849 |
pancreas | carcinoma | Substitution - coding silent |
c.2788G>A; p.E930K; 3:89472561-89472561 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2305C>G; p.R769G; 3:89431318-89431318 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1527C>A; p.I509I; 3:89399413-89399413 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1340G>A; p.R447Q; 3:89395870-89395870 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2421A>G; p.V807V; 3:89449299-89449299 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2275G>T; p.V759L; 3:89431288-89431288 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2734A>T; p.T912S; 3:89472507-89472507 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.178G>A; p.E60K; 3:89209884-89209884 |
skin | malignant_melanoma | Substitution - Missense |
c.470T>A; p.L157H; 3:89210176-89210176 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1958A>G; p.K653R; 3:89419274-89419274 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1665C>A; p.L555L; 3:89407339-89407339 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1834T>A; p.F612I; 3:89413212-89413212 |
liver | carcinoma | Substitution - Missense |
c.1687T>G; p.L563V; 3:89407361-89407361 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.665C>T; p.S222F; 3:89210371-89210371 |
skin | malignant_melanoma | Substitution - Missense |
c.1834T>A; p.F612I; 3:89413212-89413212 |
liver | carcinoma | Substitution - Missense |
c.1951G>A; p.A651T; 3:89419267-89419267 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1635C>A; p.I545I; 3:89407309-89407309 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.927T>A; p.N309K; 3:89341028-89341028 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1957A>G; p.K653E; 3:89419273-89419273 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.271T>C; p.S91P; 3:89209977-89209977 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.600A>C; p.K200N; 3:89210306-89210306 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2730C>T; p.I910I; 3:89472503-89472503 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2690G>T; p.R897M; 3:89450370-89450370 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.2478G>A; p.W826*; 3:89449356-89449356 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2478G>A; p.W826*; 3:89449356-89449356 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2572C>T; p.L858L; 3:89450252-89450252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2112_2119delTGGTTCCT; p.S706fs*1; 3:89429143-89429150 |
breast | carcinoma | Deletion - Frameshift |
c.1806T>C; p.Y602Y; 3:89413184-89413184 |
pancreas | carcinoma | Substitution - coding silent |
c.213C>T; p.C71C; 3:89209919-89209919 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2156C>T; p.T719I; 3:89431169-89431169 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.364C>A; p.L122M; 3:89210070-89210070 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2323C>G; p.P775A; 3:89431336-89431336 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1874A>C; p.K625T; 3:89413252-89413252 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.364C>A; p.L122M; 3:89210070-89210070 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.364C>A; p.L122M; 3:89210070-89210070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.364C>A; p.L122M; 3:89210070-89210070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1198C>T; p.L400L; 3:89341982-89341982 |
skin | malignant_melanoma | Substitution - coding silent |
c.385G>T; p.D129Y; 3:89210091-89210091 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1140C>T; p.V380V; 3:89341924-89341924 |
breast | carcinoma | Substitution - coding silent |
c.2771G>T; p.W924L; 3:89472544-89472544 |
liver | carcinoma | Substitution - Missense |
c.1026C>T; p.I342I; 3:89341810-89341810 |
skin | malignant_melanoma | Substitution - coding silent |
c.1188G>T; p.V396V; 3:89341972-89341972 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2771G>T; p.W924L; 3:89472544-89472544 |
liver | carcinoma | Substitution - Missense |
c.2268T>C; p.S756S; 3:89431281-89431281 |
skin | malignant_melanoma | Substitution - coding silent |
c.2282A>G; p.K761R; 3:89431295-89431295 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.266G>C; p.R89T; 3:89209972-89209972 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1497C>G; p.L499L; 3:89399383-89399383 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1339C>T; p.R447W; 3:89395869-89395869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516G>A; p.V506I; 3:89399402-89399402 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2034C>T; p.D678D; 3:89419350-89419350 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1339C>T; p.R447W; 3:89395869-89395869 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1410C>A; p.Y470*; 3:89395940-89395940 |
large_intestine | adenoma | Substitution - Nonsense |
c.2700C>T; p.N900N; 3:89472473-89472473 |
skin | malignant_melanoma | Substitution - coding silent |
c.2743A>G; p.T915A; 3:89472516-89472516 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.634T>A; p.F212I; 3:89210340-89210340 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1926T>G; p.L642L; 3:89419242-89419242 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2533delC; p.M847fs*10; 3:89450213-89450213 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1022T>C; p.V341A; 3:89341806-89341806 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2921C>T; p.T974M; 3:89479471-89479471 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2533delC; p.M847fs*10; 3:89450213-89450213 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2590G>T; p.D864Y; 3:89450270-89450270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.204C>G; p.Y68*; 3:89209910-89209910 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1552_1553GG>TT; p.G518L; 3:89399438-89399439 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1552_1553GG>TT; p.G518L; 3:89399438-89399439 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2772G>T; p.W924C; 3:89472545-89472545 |
liver | carcinoma | Substitution - Missense |
c.2420T>C; p.V807A; 3:89449298-89449298 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2420T>C; p.V807A; 3:89449298-89449298 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2772G>T; p.W924C; 3:89472545-89472545 |
liver | carcinoma | Substitution - Missense |
c.2248C>T; p.R750W; 3:89431261-89431261 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1677C>A; p.V559V; 3:89407351-89407351 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2774C>A; p.T925K; 3:89472547-89472547 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1581A>T; p.E527D; 3:89399467-89399467 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>T; p.G172C; 3:89210220-89210220 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1458T>G; p.I486M; 3:89399344-89399344 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1432C>A; p.Q478K; 3:89399318-89399318 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1849G>T; p.D617Y; 3:89413227-89413227 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4G>A; p.D2N; 3:89107752-89107752 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.2304G>A; p.S768S; 3:89431317-89431317 |
liver | carcinoma | Substitution - coding silent |
c.2947G>A; p.V983M; 3:89479497-89479497 |
large_intestine; colon | NS | Substitution - Missense |
c.2947G>A; p.V983M; 3:89479497-89479497 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2304G>A; p.S768S; 3:89431317-89431317 |
liver | carcinoma | Substitution - coding silent |
c.2433G>T; p.G811G; 3:89449311-89449311 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.197G>A; p.R66K; 3:89209903-89209903 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.247A>G; p.R83G; 3:89209953-89209953 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1070T>C; p.V357A; 3:89341854-89341854 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.873G>T; p.P291P; 3:89340974-89340974 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2475C>A; p.Y825*; 3:89449353-89449353 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1662T>C; p.I554I; 3:89407336-89407336 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.544G>T; p.A182S; 3:89210250-89210250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1863A>G; p.I621M; 3:89413241-89413241 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1863A>G; p.I621M; 3:89413241-89413241 |
liver | carcinoma | Substitution - Missense |
c.1629C>T; p.V543V; 3:89407303-89407303 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.407G>A; p.R136Q; 3:89210113-89210113 |
skin | malignant_melanoma | Substitution - Missense |
c.2220G>A; p.M740I; 3:89431233-89431233 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1179G>T; p.T393T; 3:89341963-89341963 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1179G>T; p.T393T; 3:89341963-89341963 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.282G>A; p.K94K; 3:89209988-89209988 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.407G>A; p.R136Q; 3:89210113-89210113 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1356C>T; p.S452S; 3:89395886-89395886 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1179G>T; p.T393T; 3:89341963-89341963 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1101G>T; p.G367G; 3:89341885-89341885 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2088G>T; p.M696I; 3:89429119-89429119 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1668C>G; p.L556L; 3:89407342-89407342 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2741G>T; p.R914L; 3:89472514-89472514 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1308_1309TC>AA; p.A436>?; 3:89395838-89395839 |
lung | carcinoma; adenocarcinoma | Complex |
c.2054T>C; p.L685P; 3:89419370-89419370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2649G>C; p.R883R; 3:89450329-89450329 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.253A>G; p.N85D; 3:89209959-89209959 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.709G>A; p.E237K; 3:89210415-89210415 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.142C>G; p.P48A; 3:89127262-89127262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1365G>C; p.L455F; 3:89395895-89395895 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1907G>T; p.C636F; 3:89419223-89419223 |
stomach | carcinoma | Substitution - Missense |
c.175G>T; p.D59Y; 3:89209881-89209881 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.947A>C; p.D316A; 3:89341048-89341048 |
breast | carcinoma | Substitution - Missense |
c.1568A>C; p.K523T; 3:89399454-89399454 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.119G>A; p.G40E; 3:89127239-89127239 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1123C>T; p.P375S; 3:89341907-89341907 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1963C>T; p.L655L; 3:89419279-89419279 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1543delG; p.A515fs*30; 3:89399429-89399429 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1765A>C; p.K589Q; 3:89413143-89413143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1543delG; p.A515fs*30; 3:89399429-89399429 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.267G>A; p.R89R; 3:89209973-89209973 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.267G>T; p.R89S; 3:89209973-89209973 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2283G>T; p.K761N; 3:89431296-89431296 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.224A>G; p.D75G; 3:89209930-89209930 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2445G>A; p.W815*; 3:89449323-89449323 |
skin | malignant_melanoma | Substitution - Nonsense |
c.153G>T; p.G51G; 3:89127273-89127273 |
breast | carcinoma | Substitution - coding silent |
c.2208C>T; p.Y736Y; 3:89431221-89431221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.750G>T; p.W250C; 3:89210456-89210456 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.476A>G; p.D159G; 3:89210182-89210182 |
large_intestine; colon | NS | Substitution - Missense |
c.2530C>T; p.P844S; 3:89450210-89450210 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2297G>T; p.G766V; 3:89431310-89431310 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1457T>C; p.I486T; 3:89399343-89399343 |
breast | carcinoma | Substitution - Missense |
c.1379C>A; p.P460H; 3:89395909-89395909 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1347C>A; p.S449S; 3:89395877-89395877 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.440C>T; p.A147V; 3:89210146-89210146 |
skin | malignant_melanoma | Substitution - Missense |
c.2416G>A; p.D806N; 3:89449294-89449294 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2540T>A; p.M847K; 3:89450220-89450220 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.806T>C; p.M269T; 3:89210512-89210512 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.438T>G; p.I146M; 3:89210144-89210144 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.485T>A; p.L162Q; 3:89210191-89210191 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.716C>T; p.P239L; 3:89210422-89210422 |
skin | malignant_melanoma | Substitution - Missense |
c.1641T>A; p.I547I; 3:89407315-89407315 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.758C>A; p.P253H; 3:89210464-89210464 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1898G>A; p.G633E; 3:89419214-89419214 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1641T>A; p.I547I; 3:89407315-89407315 |
pancreas | carcinoma | Substitution - coding silent |
c.935G>A; p.R312Q; 3:89341036-89341036 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1875A>G; p.K625K; 3:89413253-89413253 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.935G>A; p.R312Q; 3:89341036-89341036 |
liver | carcinoma | Substitution - Missense |
c.935G>A; p.R312Q; 3:89341036-89341036 |
liver | carcinoma | Substitution - Missense |
c.2748A>G; p.T916T; 3:89472521-89472521 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1179G>A; p.T393T; 3:89341963-89341963 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1462A>T; p.R488W; 3:89399348-89399348 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.970+1G>T; p.?; 3:89341072-89341072 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1435G>A; p.E479K; 3:89399321-89399321 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.745G>A; p.E249K; 3:89210451-89210451 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1636G>A; p.A546T; 3:89407310-89407310 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1636G>A; p.A546T; 3:89407310-89407310 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1672G>A; p.V558I; 3:89407346-89407346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.110C>A; p.T37K; 3:89127230-89127230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1944T>C; p.I648I; 3:89419260-89419260 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1375G>T; p.E459*; 3:89395905-89395905 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.119G>T; p.G40V; 3:89127239-89127239 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1535G>A; p.R512Q; 3:89399421-89399421 |
breast | carcinoma | Substitution - Missense |
c.1233C>A; p.A411A; 3:89342017-89342017 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1357A>G; p.I453V; 3:89395887-89395887 |
kidney | other; neoplasm | Substitution - Missense |
c.1811A>T; p.D604V; 3:89413189-89413189 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2835G>C; p.K945N; 3:89472608-89472608 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1525A>T; p.I509F; 3:89399411-89399411 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.282G>T; p.K94N; 3:89209988-89209988 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2408C>T; p.S803L; 3:89449286-89449286 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1228G>C; p.D410H; 3:89342012-89342012 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.282G>T; p.K94N; 3:89209988-89209988 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1142G>A; p.R381H; 3:89341926-89341926 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1058G>T; p.G353V; 3:89341842-89341842 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1020A>C; p.S340S; 3:89341804-89341804 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.392A>G; p.H131R; 3:89210098-89210098 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.911G>C; p.C304S; 3:89341012-89341012 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2423G>T; p.W808L; 3:89449301-89449301 |
oesophagus | carcinoma | Substitution - Missense |
c.1090delA; p.K365fs*6; 3:89341874-89341874 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.236A>T; p.N79I; 3:89209942-89209942 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1915C>T; p.R639C; 3:89419231-89419231 |
skin | malignant_melanoma | Substitution - Missense |
c.2691G>A; p.R897R; 3:89472464-89472464 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.970+7A>T; p.?; 3:89341078-89341078 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1891G>A; p.E631K; 3:89419207-89419207 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1440A>T; p.Q480H; 3:89399326-89399326 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.98T>G; p.L33R; 3:89127218-89127218 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2496T>C; p.D832D; 3:89449374-89449374 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.341G>A; p.G114E; 3:89210047-89210047 |
NS | malignant_melanoma | Substitution - Missense |
c.621G>A; p.K207K; 3:89210327-89210327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.623A>C; p.N208T; 3:89210329-89210329 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.621G>A; p.K207K; 3:89210327-89210327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.341G>A; p.G114E; 3:89210047-89210047 |
skin | malignant_melanoma | Substitution - Missense |
c.2418T>C; p.D806D; 3:89449296-89449296 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1595-3C>T; p.?; 3:89407266-89407266 |
liver | carcinoma | Unknown |
c.2418T>C; p.D806D; 3:89449296-89449296 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1734A>C; p.E578D; 3:89408103-89408103 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.687T>C; p.S229S; 3:89210393-89210393 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.687T>C; p.S229S; 3:89210393-89210393 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1595-3C>T; p.?; 3:89407266-89407266 |
liver | carcinoma | Unknown |
c.687T>C; p.S229S; 3:89210393-89210393 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2143G>T; p.D715Y; 3:89431156-89431156 |
kidney | other; neoplasm | Substitution - Missense |
c.687T>C; p.S229S; 3:89210393-89210393 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1810G>T; p.D604Y; 3:89413188-89413188 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2423G>A; p.W808*; 3:89449301-89449301 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Nonsense |
c.1601C>T; p.S534F; 3:89407275-89407275 |
skin | malignant_melanoma | Substitution - Missense |
c.109A>G; p.T37A; 3:89127229-89127229 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.109A>G; p.T37A; 3:89127229-89127229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1941G>T; p.E647D; 3:89419257-89419257 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2607C>G; p.P869P; 3:89450287-89450287 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2494G>T; p.D832Y; 3:89449372-89449372 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.109A>G; p.T37A; 3:89127229-89127229 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2870C>T; p.T957I; 3:89479420-89479420 |
skin | malignant_melanoma | Substitution - Missense |
c.1583C>A; p.T528N; 3:89399469-89399469 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2579G>A; p.C860Y; 3:89450259-89450259 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2282A>T; p.K761M; 3:89431295-89431295 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1925T>G; p.L642R; 3:89419241-89419241 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2845G>A; p.D949N; 3:89472618-89472618 |
skin | malignant_melanoma | Substitution - Missense |
c.1925T>G; p.L642R; 3:89419241-89419241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2845G>A; p.D949N; 3:89472618-89472618 |
skin | malignant_melanoma | Substitution - Missense |
c.1792G>A; p.D598N; 3:89413170-89413170 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1925T>G; p.L642R; 3:89419241-89419241 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2173G>C; p.G725R; 3:89431186-89431186 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.573C>G; p.A191A; 3:89210279-89210279 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2288C>T; p.S763F; 3:89431301-89431301 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2774C>T; p.T925I; 3:89472547-89472547 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.561T>G; p.G187G; 3:89210267-89210267 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2310C>T; p.V770V; 3:89431323-89431323 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2187G>A; p.G729G; 3:89431200-89431200 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1986G>A; p.K662K; 3:89419302-89419302 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.934C>T; p.R312W; 3:89341035-89341035 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1682A>T; p.Y561F; 3:89407356-89407356 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.318C>A; p.C106*; 3:89210024-89210024 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2285T>G; p.V762G; 3:89431298-89431298 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.662A>T; p.Q221L; 3:89210368-89210368 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2262C>A; p.I754I; 3:89431275-89431275 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1969G>T; p.V657F; 3:89419285-89419285 |
bone; rib | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2222G>A; p.G741D; 3:89431235-89431235 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.631A>G; p.M211V; 3:89210337-89210337 |
liver | carcinoma | Substitution - Missense |
c.2060G>A; p.G687E; 3:89419376-89419376 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329C>T; p.P110L; 3:89210035-89210035 |
skin | malignant_melanoma | Substitution - Missense |
c.28C>T; p.L10F; 3:89107776-89107776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1246T>C; p.S416P; 3:89342030-89342030 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2181T>C; p.L727L; 3:89431194-89431194 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.148C>T; p.H50Y; 3:89127268-89127268 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.799G>T; p.G267C; 3:89210505-89210505 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2584C>T; p.Q862*; 3:89450264-89450264 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.237C>A; p.N79K; 3:89209943-89209943 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1405G>A; p.D469N; 3:89395935-89395935 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1405G>A; p.D469N; 3:89395935-89395935 |
breast | carcinoma | Substitution - Missense |
c.484C>T; p.L162L; 3:89210190-89210190 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1968A>C; p.K656N; 3:89419284-89419284 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.970+1G>A; p.?; 3:89341072-89341072 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1819C>A; p.Q607K; 3:89413197-89413197 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.970+1G>A; p.?; 3:89341072-89341072 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.1759C>T; p.H587Y; 3:89408128-89408128 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1240G>A; p.G414R; 3:89342024-89342024 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2641C>A; p.L881I; 3:89450321-89450321 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1320C>A; p.V440V; 3:89395850-89395850 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.696C>A; p.N232K; 3:89210402-89210402 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>A; p.G187S; 3:89210265-89210265 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1336G>T; p.D446Y; 3:89395866-89395866 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2800G>A; p.G934S; 3:89472573-89472573 |
skin | malignant_melanoma | Substitution - Missense |
c.559G>A; p.G187S; 3:89210265-89210265 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1861A>C; p.I621L; 3:89413239-89413239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2537C>T; p.P846L; 3:89450217-89450217 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.254A>G; p.N85S; 3:89209960-89209960 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.254A>G; p.N85S; 3:89209960-89209960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.254A>G; p.N85S; 3:89209960-89209960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.254A>G; p.N85S; 3:89209960-89209960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2537C>T; p.P846L; 3:89450217-89450217 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.855G>A; p.M285I; 3:89340956-89340956 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.855G>A; p.M285I; 3:89340956-89340956 |
skin | malignant_melanoma | Substitution - Missense |
c.2472A>T; p.P824P; 3:89449350-89449350 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1072A>G; p.T358A; 3:89341856-89341856 |
prostate | carcinoma | Substitution - Missense |
c.1522C>A; p.Q508K; 3:89399408-89399408 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.995T>C; p.V332A; 3:89341779-89341779 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.676G>A; p.V226I; 3:89210382-89210382 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2734A>G; p.T912A; 3:89472507-89472507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402T>G; p.L468V; 3:89395932-89395932 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2946C>T; p.P982P; 3:89479496-89479496 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.686C>A; p.S229Y; 3:89210392-89210392 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.686C>A; p.S229Y; 3:89210392-89210392 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.248G>A; p.R83K; 3:89209954-89209954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.318C>T; p.C106C; 3:89210024-89210024 |
prostate | carcinoma | Substitution - coding silent |
c.453T>C; p.S151S; 3:89210159-89210159 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.834C>A; p.Y278*; 3:89340935-89340935 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.248G>A; p.R83K; 3:89209954-89209954 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2611T>G; p.F871V; 3:89450291-89450291 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2184A>G; p.R728R; 3:89431197-89431197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2922G>A; p.T974T; 3:89479472-89479472 |
prostate | carcinoma | Substitution - coding silent |
c.1180G>A; p.V394M; 3:89341964-89341964 |
skin | malignant_melanoma | Substitution - Missense |
c.2184A>G; p.R728R; 3:89431197-89431197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1271A>G; p.Q424R; 3:89342055-89342055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.790G>A; p.E264K; 3:89210496-89210496 |
skin | malignant_melanoma | Substitution - Missense |
c.2372C>T; p.T791I; 3:89449250-89449250 |
prostate | adenoma | Substitution - Missense |
c.2175G>A; p.G725G; 3:89431188-89431188 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.620A>T; p.K207M; 3:89210326-89210326 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1097G>T; p.C366F; 3:89341881-89341881 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2648G>A; p.R883Q; 3:89450328-89450328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1760A>T; p.H587L; 3:89408129-89408129 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1381G>T; p.E461*; 3:89395911-89395911 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Nonsense |
c.2518G>A; p.G840S; 3:89450198-89450198 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2056G>A; p.E686K; 3:89419372-89419372 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1564C>A; p.R522S; 3:89399450-89399450 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1381G>T; p.E461*; 3:89395911-89395911 |
kidney | other; neoplasm | Substitution - Nonsense |
c.957C>T; p.S319S; 3:89341058-89341058 |
skin | malignant_melanoma | Substitution - coding silent |
c.957C>T; p.S319S; 3:89341058-89341058 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.466G>A; p.D156N; 3:89210172-89210172 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.771T>A; p.C257*; 3:89210477-89210477 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1132C>A; p.P378T; 3:89341916-89341916 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2882C>G; p.P961R; 3:89479432-89479432 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.748T>A; p.W250R; 3:89210454-89210454 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.236A>C; p.N79T; 3:89209942-89209942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.304A>T; p.T102S; 3:89210010-89210010 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.54C>A; p.S18R; 3:89107802-89107802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1692T>C; p.I564I; 3:89407366-89407366 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1236T>C; p.V412V; 3:89342020-89342020 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2305C>A; p.R769S; 3:89431318-89431318 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.602A>C; p.K201T; 3:89210308-89210308 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1502C>T; p.P501L; 3:89399388-89399388 |
skin | malignant_melanoma | Substitution - Missense |
c.2266A>G; p.S756G; 3:89431279-89431279 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1932_1933insA; p.E647fs*7; 3:89419248-89419249 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.65T>A; p.L22Q; 3:89107813-89107813 |
ovary | other; neoplasm | Substitution - Missense |
c.1918T>A; p.L640I; 3:89419234-89419234 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1361C>T; p.S454F; 3:89395891-89395891 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.311G>A; p.R104Q; 3:89210017-89210017 |
skin | malignant_melanoma | Substitution - Missense |
c.2415C>G; p.S805R; 3:89449293-89449293 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.311G>A; p.R104Q; 3:89210017-89210017 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1339C>A; p.R447R; 3:89395869-89395869 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.188C>A; p.T63K; 3:89209894-89209894 |
oesophagus | carcinoma | Substitution - Missense |
c.1336G>A; p.D446N; 3:89395866-89395866 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2712C>G; p.D904E; 3:89472485-89472485 |
breast | carcinoma | Substitution - Missense |
c.2241C>T; p.L747L; 3:89431254-89431254 |
skin | malignant_melanoma | Substitution - coding silent |
c.2241C>T; p.L747L; 3:89431254-89431254 |
skin | malignant_melanoma | Substitution - coding silent |
c.1750G>A; p.G584S; 3:89408119-89408119 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.388G>A; p.D130N; 3:89210094-89210094 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2147C>T; p.A716V; 3:89431160-89431160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2147C>T; p.A716V; 3:89431160-89431160 |
breast | carcinoma | Substitution - Missense |
c.2034C>A; p.D678E; 3:89419350-89419350 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.892G>A; p.E298K; 3:89340993-89340993 |
skin | malignant_melanoma | Substitution - Missense |
c.892G>A; p.E298K; 3:89340993-89340993 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.676G>T; p.V226F; 3:89210382-89210382 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1813C>T; p.P605S; 3:89413191-89413191 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2950T>C; p.*984Q; 3:89479500-89479500 |
endometrium | carcinoma; endometrioid_carcinoma | Nonstop extension |
c.685T>C; p.S229P; 3:89210391-89210391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.685T>C; p.S229P; 3:89210391-89210391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2121G>A; p.L707L; 3:89429152-89429152 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.68T>C; p.I23T; 3:89107816-89107816 |
liver | carcinoma | Substitution - Missense |
c.685T>C; p.S229P; 3:89210391-89210391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2528T>G; p.L843R; 3:89450208-89450208 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2747C>T; p.T916I; 3:89472520-89472520 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.644C>T; p.T215M; 3:89210350-89210350 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.644C>T; p.T215M; 3:89210350-89210350 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.496A>G; p.T166A; 3:89210202-89210202 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.496A>G; p.T166A; 3:89210202-89210202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.496A>G; p.T166A; 3:89210202-89210202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.989G>T; p.R330I; 3:89341773-89341773 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2662C>A; p.L888M; 3:89450342-89450342 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1732G>A; p.E578K; 3:89408101-89408101 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2016C>A; p.S672R; 3:89419332-89419332 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.14T>C; p.L5P; 3:89107762-89107762 |
pancreas | carcinoma | Substitution - Missense |
c.14T>C; p.L5P; 3:89107762-89107762 |
pancreas | carcinoma | Substitution - Missense |
c.1691T>A; p.I564N; 3:89407365-89407365 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.497C>A; p.T166N; 3:89210203-89210203 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.722G>T; p.R241M; 3:89210428-89210428 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.645G>A; p.T215T; 3:89210351-89210351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2426G>T; p.S809I; 3:89449304-89449304 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1234G>A; p.V412I; 3:89342018-89342018 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.645G>A; p.T215T; 3:89210351-89210351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1234G>A; p.V412I; 3:89342018-89342018 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1672G>C; p.V558L; 3:89407346-89407346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1318G>T; p.V440F; 3:89395848-89395848 |
oesophagus | carcinoma | Substitution - Missense |
c.2770T>C; p.W924R; 3:89472543-89472543 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2918A>G; p.E973G; 3:89479468-89479468 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1616G>A; p.S539N; 3:89407290-89407290 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1916G>A; p.R639H; 3:89419232-89419232 |
liver | carcinoma | Substitution - Missense |
c.380C>A; p.S127Y; 3:89210086-89210086 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2174G>A; p.G725E; 3:89431187-89431187 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.750G>A; p.W250*; 3:89210456-89210456 |
skin | malignant_melanoma | Substitution - Nonsense |
c.89-3T>C; p.?; 3:89127206-89127206 |
pancreas | NS | Unknown |
c.793G>A; p.E265K; 3:89210499-89210499 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2306G>A; p.R769H; 3:89431319-89431319 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2306G>A; p.R769H; 3:89431319-89431319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.494A>G; p.N165S; 3:89210200-89210200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2306G>A; p.R769H; 3:89431319-89431319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2306G>A; p.R769H; 3:89431319-89431319 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1303G>T; p.A435S; 3:89342087-89342087 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1303G>T; p.A435S; 3:89342087-89342087 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2781C>T; p.H927H; 3:89472554-89472554 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1326G>A; p.T442T; 3:89395856-89395856 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2739C>T; p.F913F; 3:89472512-89472512 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2236G>A; p.D746N; 3:89431249-89431249 |
skin | malignant_melanoma | Substitution - Missense |
c.1961C>T; p.T654I; 3:89419277-89419277 |
skin | malignant_melanoma | Substitution - Missense |
c.2236G>A; p.D746N; 3:89431249-89431249 |
skin | malignant_melanoma | Substitution - Missense |
c.2701C>T; p.L901F; 3:89472474-89472474 |
skin | malignant_melanoma | Substitution - Missense |
c.2148C>T; p.A716A; 3:89431161-89431161 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.333G>C; p.L111F; 3:89210039-89210039 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.155G>A; p.W52*; 3:89209861-89209861 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.754G>T; p.V252L; 3:89210460-89210460 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.397G>T; p.V133L; 3:89210103-89210103 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1543G>A; p.A515T; 3:89399429-89399429 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.17C>A; p.S6Y; 3:89107765-89107765 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1543G>A; p.A515T; 3:89399429-89399429 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2575G>A; p.D859N; 3:89450255-89450255 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.873G>A; p.P291P; 3:89340974-89340974 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2872G>A; p.V958M; 3:89479422-89479422 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2406G>A; p.T802T; 3:89449284-89449284 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2406G>A; p.T802T; 3:89449284-89449284 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1543G>A; p.A515T; 3:89399429-89399429 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2406G>A; p.T802T; 3:89449284-89449284 |
pancreas | carcinoma | Substitution - coding silent |
c.1854C>A; p.A618A; 3:89413232-89413232 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2242G>A; p.A748T; 3:89431255-89431255 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1363T>G; p.L455V; 3:89395893-89395893 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1730A>T; p.D577V; 3:89408099-89408099 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2702T>G; p.L901R; 3:89472475-89472475 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1812C>A; p.D604E; 3:89413190-89413190 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2698A>C; p.N900H; 3:89472471-89472471 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517C>T; p.P173S; 3:89210223-89210223 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1896T>C; p.F632F; 3:89419212-89419212 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.953C>A; p.P318Q; 3:89341054-89341054 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1705G>T; p.G569C; 3:89408074-89408074 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1936A>G; p.K646E; 3:89419252-89419252 |
skin | malignant_melanoma | Substitution - Missense |
c.1332G>T; p.K444N; 3:89395862-89395862 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1346C>T; p.S449F; 3:89395876-89395876 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1346C>T; p.S449F; 3:89395876-89395876 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1698G>C; p.R566S; 3:89408067-89408067 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094A>G; p.K365R; 3:89341878-89341878 |
skin | malignant_melanoma | Substitution - Missense |
c.1346C>T; p.S449F; 3:89395876-89395876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2142C>T; p.H714H; 3:89431155-89431155 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2725G>A; p.D909N; 3:89472498-89472498 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.682G>A; p.G228R; 3:89210388-89210388 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2073A>T; p.K691N; 3:89419389-89419389 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.485T>G; p.L162R; 3:89210191-89210191 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2088G>A; p.M696I; 3:89429119-89429119 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1668C>T; p.L556L; 3:89407342-89407342 |
liver | carcinoma | Substitution - coding silent |
c.1579G>T; p.E527*; 3:89399465-89399465 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.1668C>T; p.L556L; 3:89407342-89407342 |
liver | carcinoma | Substitution - coding silent |
c.2051G>A; p.R684Q; 3:89419367-89419367 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2757G>A; p.W919*; 3:89472530-89472530 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1870G>T; p.D624Y; 3:89413248-89413248 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.462A>T; p.Q154H; 3:89210168-89210168 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.545C>T; p.A182V; 3:89210251-89210251 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1785T>G; p.T595T; 3:89413163-89413163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2317G>A; p.D773N; 3:89431330-89431330 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1011C>G; p.N337K; 3:89341795-89341795 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.897T>C; p.D299D; 3:89340998-89340998 |
liver | carcinoma | Substitution - coding silent |
c.897T>C; p.D299D; 3:89340998-89340998 |
liver | carcinoma | Substitution - coding silent |
c.2104A>C; p.M702L; 3:89429135-89429135 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1345T>C; p.S449P; 3:89395875-89395875 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2183G>T; p.R728L; 3:89431196-89431196 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.142C>T; p.P48S; 3:89127262-89127262 |
skin | malignant_melanoma | Substitution - Missense |
c.2183G>T; p.R728L; 3:89431196-89431196 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1485C>A; p.T495T; 3:89399371-89399371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.559G>C; p.G187R; 3:89210265-89210265 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2063T>A; p.V688D; 3:89419379-89419379 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.884C>A; p.S295Y; 3:89340985-89340985 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.847G>A; p.G283S; 3:89340948-89340948 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1846T>C; p.L616L; 3:89413224-89413224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.406C>T; p.R136*; 3:89210112-89210112 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.406C>T; p.R136*; 3:89210112-89210112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.138T>C; p.S46S; 3:89127258-89127258 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1694_1695GG>AA; p.G565E; 3:89407368-89407369 |
skin | malignant_melanoma | Substitution - Missense |
c.406C>T; p.R136*; 3:89210112-89210112 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.406C>T; p.R136*; 3:89210112-89210112 |
skin | malignant_melanoma | Substitution - Nonsense |
c.406C>T; p.R136*; 3:89210112-89210112 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1146C>T; p.F382F; 3:89341930-89341930 |
skin | malignant_melanoma | Substitution - coding silent |
c.1256G>C; p.S419T; 3:89342040-89342040 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2847-2A>T; p.?; 3:89479395-89479395 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.127G>T; p.G43C; 3:89127247-89127247 |
oesophagus | carcinoma | Substitution - Missense |
c.1082T>C; p.I361T; 3:89341866-89341866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1281G>A; p.A427A; 3:89342065-89342065 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1073C>T; p.T358I; 3:89341857-89341857 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2168T>C; p.L723P; 3:89431181-89431181 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169C>A; p.T390N; 3:89341953-89341953 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1674T>C; p.V558V; 3:89407348-89407348 |
liver | carcinoma | Substitution - coding silent |
c.2297G>A; p.G766E; 3:89431310-89431310 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2297G>A; p.G766E; 3:89431310-89431310 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2284G>A; p.V762I; 3:89431297-89431297 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1883G>A; p.G628E; 3:89413261-89413261 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.815-8G>T; p.?; 3:89340908-89340908 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1354A>T; p.S452C; 3:89395884-89395884 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.157G>A; p.E53K; 3:89209863-89209863 |
skin | malignant_melanoma | Substitution - Missense |
c.2717G>T; p.S906I; 3:89472490-89472490 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1153C>T; p.R385*; 3:89341937-89341937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.485T>C; p.L162P; 3:89210191-89210191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.485T>C; p.L162P; 3:89210191-89210191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1422C>A; p.Y474*; 3:89395952-89395952 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.285T>G; p.I95M; 3:89209991-89209991 |
skin | malignant_melanoma | Substitution - Missense |
c.1532C>T; p.A511V; 3:89399418-89399418 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.528G>C; p.K176N; 3:89210234-89210234 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2249G>T; p.R750L; 3:89431262-89431262 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1647G>A; p.A549A; 3:89407321-89407321 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2710G>A; p.D904N; 3:89472483-89472483 |
skin | malignant_melanoma | Substitution - Missense |
c.353A>G; p.E118G; 3:89210059-89210059 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1647G>A; p.A549A; 3:89407321-89407321 |
skin | malignant_melanoma | Substitution - coding silent |
c.15C>T; p.L5L; 3:89107763-89107763 |
skin | malignant_melanoma | Substitution - coding silent |
c.1643C>A; p.S548*; 3:89407317-89407317 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.753T>G; p.L251L; 3:89210459-89210459 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1029G>A; p.L343L; 3:89341813-89341813 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1150C>T; p.P384S; 3:89341934-89341934 |
skin | malignant_melanoma | Substitution - Missense |
c.1643C>A; p.S548*; 3:89407317-89407317 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.2184A>T; p.R728R; 3:89431197-89431197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2249G>A; p.R750Q; 3:89431262-89431262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.165C>T; p.I55I; 3:89209871-89209871 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.362A>G; p.N121S; 3:89210068-89210068 |
skin | malignant_melanoma | Substitution - Missense |
c.58_59GG>AA; p.G20K; 3:89107806-89107807 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2249G>A; p.R750Q; 3:89431262-89431262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2051G>C; p.R684P; 3:89419367-89419367 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1837G>T; p.A613S; 3:89413215-89413215 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.947A>T; p.D316V; 3:89341048-89341048 |
breast | carcinoma | Substitution - Missense |
c.931T>C; p.F311L; 3:89341032-89341032 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.219C>G; p.V73V; 3:89209925-89209925 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.563C>T; p.A188V; 3:89210269-89210269 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1889-2A>T; p.?; 3:89419203-89419203 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1177A>G; p.T393A; 3:89341961-89341961 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.684G>T; p.G228G; 3:89210390-89210390 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1177A>G; p.T393A; 3:89341961-89341961 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1556C>T; p.T519M; 3:89399442-89399442 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1280C>T; p.A427V; 3:89342064-89342064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1284C>T; p.V428V; 3:89342068-89342068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.744C>T; p.G248G; 3:89210450-89210450 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.744C>T; p.G248G; 3:89210450-89210450 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1970T>A; p.V657D; 3:89419286-89419286 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.839C>T; p.A280V; 3:89340940-89340940 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2667G>A; p.K889K; 3:89450347-89450347 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.399G>A; p.V133V; 3:89210105-89210105 |
skin | malignant_melanoma | Substitution - coding silent |
c.1137T>G; p.N379K; 3:89341921-89341921 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.559G>T; p.G187C; 3:89210265-89210265 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1432-2A>G; p.?; 3:89399316-89399316 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1432-2A>G; p.?; 3:89399316-89399316 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.1432-2A>G; p.?; 3:89399316-89399316 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2098G>A; p.E700K; 3:89429129-89429129 |
skin | malignant_melanoma | Substitution - Missense |
c.594C>G; p.Y198*; 3:89210300-89210300 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2811C>G; p.Y937*; 3:89472584-89472584 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |