Entrez Gene

Basic Information
Gene ID	5100
Name	PCDH8
Synonymous	protocadherin 8;PCDH8;protocadherin 8
Definition	protocadherin-8
Position	13q21.1
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

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.06.

The copy number variations for various cancers

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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.489C>T; p.D163D; 13:52847948-52847948	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2008G>A; p.E670K; 13:52846429-52846429	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2457C>T; p.F819F; 13:52845980-52845980	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1383C>T; p.A461A; 13:52847054-52847054	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1156T>A; p.S386T; 13:52847281-52847281	NS	malignant_melanoma	Substitution - Missense
c.15G>T; p.R5S; 13:52848422-52848422	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.573C>T; p.G191G; 13:52847864-52847864	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2216T>G; p.V739G; 13:52846221-52846221	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2216T>G; p.V739G; 13:52846221-52846221	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2146C>T; p.R716C; 13:52846291-52846291	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2216T>G; p.V739G; 13:52846221-52846221	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2216T>G; p.V739G; 13:52846221-52846221	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1587C>T; p.N529N; 13:52846850-52846850	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2911G>T; p.G971W; 13:52844862-52844862	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1099A>G; p.T367A; 13:52847338-52847338	thyroid	other; neoplasm	Substitution - Missense
c.3185C>T; p.P1062L; 13:52844588-52844588	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.3185C>T; p.P1062L; 13:52844588-52844588	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1099A>G; p.T367A; 13:52847338-52847338	thyroid	other; neoplasm	Substitution - Missense
c.947G>A; p.R316H; 13:52847490-52847490	liver	carcinoma	Substitution - Missense
c.1145C>T; p.A382V; 13:52847292-52847292	liver	carcinoma	Substitution - Missense
c.2868G>C; p.K956N; 13:52844905-52844905	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.999C>A; p.P333P; 13:52847438-52847438	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.737C>T; p.P246L; 13:52847700-52847700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3162C>A; p.S1054S; 13:52844611-52844611	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2322C>T; p.C774C; 13:52846115-52846115	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2596G>T; p.E866*; 13:52845841-52845841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2061G>T; p.R687S; 13:52846376-52846376	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1365G>A; p.L455L; 13:52847072-52847072	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1073C>T; p.P358L; 13:52847364-52847364	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1927G>A; p.E643K; 13:52846510-52846510	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.289G>A; p.G97S; 13:52848148-52848148	skin	malignant_melanoma	Substitution - Missense
c.1792C>A; p.R598S; 13:52846645-52846645	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3097C>T; p.L1033F; 13:52844676-52844676	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2185C>A; p.R729S; 13:52846252-52846252	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2797G>A; p.G933R; 13:52845467-52845467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.126delC; p.G43fs*13; 13:52848311-52848311	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.299C>T; p.P100L; 13:52848138-52848138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2648C>T; p.P883L; 13:52845616-52845616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2984G>A; p.R995Q; 13:52844789-52844789	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.271G>A; p.D91N; 13:52848166-52848166	skin	malignant_melanoma	Substitution - Missense
c.981G>T; p.Q327H; 13:52847456-52847456	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.478G>A; p.V160M; 13:52847959-52847959	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2912G>T; p.G971V; 13:52844861-52844861	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.301C>A; p.Q101K; 13:52848136-52848136	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.518G>A; p.R173H; 13:52847919-52847919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2356delG; p.A786fs*151; 13:52846081-52846081	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2356delG; p.A786fs*151; 13:52846081-52846081	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.931C>T; p.P311S; 13:52847506-52847506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.141G>A; p.G47G; 13:52848296-52848296	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.39C>T; p.F13F; 13:52848398-52848398	skin	malignant_melanoma	Substitution - coding silent
c.2305G>A; p.A769T; 13:52846132-52846132	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3043C>A; p.Q1015K; 13:52844730-52844730	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.480G>A; p.V160V; 13:52847957-52847957	skin	malignant_melanoma	Substitution - coding silent
c.2989C>T; p.P997S; 13:52844784-52844784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1584C>T; p.R528R; 13:52846853-52846853	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2243C>T; p.T748M; 13:52846194-52846194	ovary	other; neoplasm	Substitution - Missense
c.2005G>A; p.G669R; 13:52846432-52846432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2296G>A; p.A766T; 13:52846141-52846141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2296G>A; p.A766T; 13:52846141-52846141	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.265G>A; p.G89S; 13:52848172-52848172	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.775G>A; p.A259T; 13:52847662-52847662	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2272G>T; p.G758W; 13:52846165-52846165	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.926C>T; p.A309V; 13:52847511-52847511	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.19T>C; p.W7R; 13:52848418-52848418	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.19T>C; p.W7R; 13:52848418-52848418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1922C>T; p.A641V; 13:52846515-52846515	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2240A>G; p.D747G; 13:52846197-52846197	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3037G>T; p.G1013W; 13:52844736-52844736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2741delG; p.G914fs*23; 13:52845523-52845523	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2801A>G; p.D934G; 13:52845463-52845463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2186G>A; p.R729H; 13:52846251-52846251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1832A>C; p.H611P; 13:52846605-52846605	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1832A>C; p.H611P; 13:52846605-52846605	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.1996_1997CG>CA; p.R666>?; 13:52846440-52846441	lung	carcinoma; adenocarcinoma	Complex
c.364G>A; p.E122K; 13:52848073-52848073	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1679C>T; p.A560V; 13:52846758-52846758	skin	malignant_melanoma	Substitution - Missense
c.1056C>T; p.P352P; 13:52847381-52847381	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2046C>T; p.P682P; 13:52846391-52846391	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2141G>A; p.G714D; 13:52846296-52846296	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.463C>T; p.P155S; 13:52847974-52847974	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.63C>T; p.C21C; 13:52848374-52848374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2356_2357insG; p.A786fs*134; 13:52846080-52846081	skin; trunk	malignant_melanoma	Insertion - Frameshift
c.1396A>G; p.T466A; 13:52847041-52847041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.240C>T; p.D80D; 13:52848197-52848197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2758G>A; p.G920R; 13:52845506-52845506	skin	malignant_melanoma	Substitution - Missense
c.3151C>A; p.L1051I; 13:52844622-52844622	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3151C>A; p.L1051I; 13:52844622-52844622	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.60C>A; p.L20L; 13:52848377-52848377	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3151C>A; p.L1051I; 13:52844622-52844622	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.396G>A; p.A132A; 13:52848041-52848041	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.439G>T; p.G147C; 13:52847998-52847998	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1686C>T; p.Y562Y; 13:52846751-52846751	thyroid	other; neoplasm	Substitution - coding silent
c.97C>T; p.R33*; 13:52848340-52848340	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.310C>A; p.L104M; 13:52848127-52848127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.265G>T; p.G89C; 13:52848172-52848172	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2221G>A; p.G741R; 13:52846216-52846216	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2149G>A; p.G717R; 13:52846288-52846288	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2699C>T; p.S900F; 13:52845565-52845565	skin	malignant_melanoma	Substitution - Missense
c.2947C>T; p.Q983*; 13:52844826-52844826	skin	malignant_melanoma	Substitution - Nonsense
c.1753G>A; p.G585S; 13:52846684-52846684	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.22G>T; p.G8C; 13:52848415-52848415	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1039G>A; p.V347I; 13:52847398-52847398	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2237G>A; p.W746*; 13:52846200-52846200	skin	malignant_melanoma	Substitution - Nonsense
c.1039G>T; p.V347F; 13:52847398-52847398	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.456G>A; p.T152T; 13:52847981-52847981	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2228T>C; p.V743A; 13:52846209-52846209	thyroid	other; neoplasm	Substitution - Missense
c.3011A>G; p.Y1004C; 13:52844762-52844762	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2228T>C; p.V743A; 13:52846209-52846209	thyroid	other; neoplasm	Substitution - Missense
c.3011A>G; p.Y1004C; 13:52844762-52844762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2228T>C; p.V743A; 13:52846209-52846209	thyroid	other; neoplasm	Substitution - Missense
c.2228T>C; p.V743A; 13:52846209-52846209	thyroid	other; neoplasm	Substitution - Missense
c.503G>A; p.G168E; 13:52847934-52847934	skin	malignant_melanoma	Substitution - Missense
c.1001G>A; p.R334H; 13:52847436-52847436	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2882C>G; p.S961C; 13:52844891-52844891	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.655G>A; p.D219N; 13:52847782-52847782	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2509G>C; p.A837P; 13:52845928-52845928	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2509G>C; p.A837P; 13:52845928-52845928	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.A271T; 13:52847626-52847626	thyroid	carcinoma	Substitution - Missense
c.2992C>G; p.L998V; 13:52844781-52844781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2327G>A; p.R776H; 13:52846110-52846110	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.263C>G; p.A88G; 13:52848174-52848174	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2675C>T; p.P892L; 13:52845589-52845589	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2787C>T; p.S929S; 13:52845477-52845477	skin	malignant_melanoma	Substitution - coding silent
c.2787C>T; p.S929S; 13:52845477-52845477	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2888G>A; p.R963H; 13:52844885-52844885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2920G>A; p.A974T; 13:52844853-52844853	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2920G>A; p.A974T; 13:52844853-52844853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2036A>T; p.Q679L; 13:52846401-52846401	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2920G>A; p.A974T; 13:52844853-52844853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2920G>A; p.A974T; 13:52844853-52844853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2625C>T; p.H875H; 13:52845812-52845812	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2036A>T; p.Q679L; 13:52846401-52846401	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.300G>A; p.P100P; 13:52848137-52848137	liver	carcinoma	Substitution - coding silent
c.300G>A; p.P100P; 13:52848137-52848137	liver	carcinoma	Substitution - coding silent
c.2326C>T; p.R776C; 13:52846111-52846111	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3186G>A; p.P1062P; 13:52844587-52844587	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3186G>A; p.P1062P; 13:52844587-52844587	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2326C>T; p.R776C; 13:52846111-52846111	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3186G>A; p.P1062P; 13:52844587-52844587	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2262C>T; p.I754I; 13:52846175-52846175	skin	malignant_melanoma	Substitution - coding silent
c.1196C>T; p.S399L; 13:52847241-52847241	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.260A>T; p.D87V; 13:52848177-52848177	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3197C>A; p.A1066D; 13:52844576-52844576	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.349C>T; p.R117W; 13:52848088-52848088	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2850G>A; p.A950A; 13:52844923-52844923	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2377G>A; p.G793R; 13:52846060-52846060	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3106C>A; p.P1036T; 13:52844667-52844667	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2827C>G; p.H943D; 13:52845437-52845437	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3116G>T; p.G1039V; 13:52844657-52844657	skin	malignant_melanoma	Substitution - Missense
c.2919C>T; p.N973N; 13:52844854-52844854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2919C>T; p.N973N; 13:52844854-52844854	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1330G>A; p.A444T; 13:52847107-52847107	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2385G>A; p.A795A; 13:52846052-52846052	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1909C>T; p.Q637*; 13:52846528-52846528	large_intestine; colon	carcinoma	Substitution - Nonsense
c.513C>T; p.T171T; 13:52847924-52847924	skin	malignant_melanoma	Substitution - coding silent
c.1759C>T; p.P587S; 13:52846678-52846678	skin	malignant_melanoma	Substitution - Missense
c.2693G>C; p.G898A; 13:52845571-52845571	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1818G>T; p.A606A; 13:52846619-52846619	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3170G>T; p.G1057V; 13:52844603-52844603	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2003C>T; p.T668M; 13:52846434-52846434	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1122C>T; p.A374A; 13:52847315-52847315	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2953T>C; p.S985P; 13:52844820-52844820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482A>G; p.D161G; 13:52847955-52847955	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2437G>A; p.G813R; 13:52846000-52846000	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.31T>A; p.C11S; 13:52848406-52848406	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1214C>A; p.A405E; 13:52847223-52847223	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1904G>A; p.R635H; 13:52846533-52846533	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.458G>A; p.R153H; 13:52847979-52847979	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1942G>T; p.E648*; 13:52846495-52846495	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.230G>A; p.R77H; 13:52848207-52848207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.230G>A; p.R77H; 13:52848207-52848207	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.168A>T; p.K56N; 13:52848269-52848269	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1853C>A; p.S618Y; 13:52846584-52846584	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101A>G; p.Y34C; 13:52848336-52848336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2671C>T; p.P891S; 13:52845593-52845593	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2642C>T; p.A881V; 13:52845622-52845622	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3017C>T; p.A1006V; 13:52844756-52844756	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2340G>T; p.E780D; 13:52846097-52846097	thyroid	other; neoplasm	Substitution - Missense
c.3109C>T; p.R1037C; 13:52844664-52844664	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.182C>A; p.T61K; 13:52848255-52848255	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1876C>T; p.R626C; 13:52846561-52846561	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1876C>T; p.R626C; 13:52846561-52846561	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1876C>T; p.R626C; 13:52846561-52846561	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1515G>A; p.S505S; 13:52846922-52846922	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2996G>A; p.R999H; 13:52844777-52844777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.238G>A; p.D80N; 13:52848199-52848199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.678C>T; p.S226S; 13:52847759-52847759	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.335C>T; p.S112L; 13:52848102-52848102	pancreas	carcinoma	Substitution - Missense
c.1441C>T; p.R481W; 13:52846996-52846996	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3110G>A; p.R1037H; 13:52844663-52844663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2959T>A; p.F987I; 13:52844814-52844814	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.834C>T; p.N278N; 13:52847603-52847603	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2392G>A; p.G798R; 13:52846045-52846045	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2392G>A; p.G798R; 13:52846045-52846045	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2295C>T; p.A765A; 13:52846142-52846142	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.151G>A; p.E51K; 13:52848286-52848286	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1582C>T; p.R528C; 13:52846855-52846855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1422G>A; p.A474A; 13:52847015-52847015	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.452G>A; p.G151D; 13:52847985-52847985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.127G>A; p.G43S; 13:52848310-52848310	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2866A>G; p.K956E; 13:52844907-52844907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2081A>C; p.D694A; 13:52846356-52846356	urinary_tract; bladder	carcinoma	Substitution - Missense
c.18T>C; p.R6R; 13:52848419-52848419	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1999C>A; p.R667S; 13:52846438-52846438	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1729G>A; p.V577I; 13:52846708-52846708	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.355G>T; p.V119L; 13:52848082-52848082	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2867A>G; p.K956R; 13:52844906-52844906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2867A>G; p.K956R; 13:52844906-52844906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2811A>G; p.K937K; 13:52845453-52845453	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2788G>A; p.D930N; 13:52845476-52845476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2923C>T; p.H975Y; 13:52844850-52844850	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2363G>A; p.R788Q; 13:52846074-52846074	liver	carcinoma	Substitution - Missense
c.2363G>A; p.R788Q; 13:52846074-52846074	liver	carcinoma	Substitution - Missense
c.319G>C; p.D107H; 13:52848118-52848118	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1206G>A; p.P402P; 13:52847231-52847231	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2835G>T; p.Q945H; 13:52845429-52845429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1969G>A; p.E657K; 13:52846468-52846468	skin	malignant_melanoma	Substitution - Missense
c.2884G>C; p.D962H; 13:52844889-52844889	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2224T>C; p.S742P; 13:52846213-52846213	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2884G>C; p.D962H; 13:52844889-52844889	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2124C>T; p.F708F; 13:52846313-52846313	skin	malignant_melanoma	Substitution - coding silent
c.2887C>T; p.R963C; 13:52844886-52844886	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.867C>A; p.T289T; 13:52847570-52847570	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.453C>T; p.G151G; 13:52847984-52847984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1713G>A; p.T571T; 13:52846724-52846724	pancreas	carcinoma	Substitution - coding silent
c.138C>T; p.I46I; 13:52848299-52848299	skin	malignant_melanoma	Substitution - coding silent
c.2720G>A; p.R907K; 13:52845544-52845544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.399G>A; p.P133P; 13:52848038-52848038	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1432C>T; p.R478C; 13:52847005-52847005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1806G>C; p.Q602H; 13:52846631-52846631	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2985G>A; p.R995R; 13:52844788-52844788	skin	malignant_melanoma	Substitution - coding silent
c.1419C>T; p.G473G; 13:52847018-52847018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.982G>T; p.D328Y; 13:52847455-52847455	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1210G>A; p.G404R; 13:52847227-52847227	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

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 copy number variations for various cancers

Top

COSMIC somatic mutation [Top]