Entrez Gene

Basic Information
Gene ID	1009
Name	CDH11
Synonymous	cadherin 11, type 2, OB-cadherin (osteoblast);CDH11;cadherin 11, type 2, OB-cadherin (osteoblast)
Definition	cadherin-11
Position	16q21
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 0.04.

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.2023G>T; p.A675S; 16:64947971-64947971	pancreas	carcinoma	Substitution - Missense
c.1044G>C; p.E348D; 16:64982257-64982257	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2306A>G; p.Y769C; 16:64947688-64947688	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2023G>T; p.A675S; 16:64947971-64947971	pancreas	carcinoma	Substitution - Missense
c.2344C>T; p.L782L; 16:64947650-64947650	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.497C>T; p.A166V; 16:64998588-64998588	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.170G>T; p.W57L; 16:65004700-65004700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2235T>G; p.Y745*; 16:64947759-64947759	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1173A>T; p.E391D; 16:64982128-64982128	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1894G>T; p.V632F; 16:64950767-64950767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.30C>A; p.A10A; 16:65004840-65004840	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.524-1G>T; p.?; 16:64993035-64993035	lung	carcinoma; adenocarcinoma	Unknown
c.524-1G>T; p.?; 16:64993035-64993035	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1135G>A; p.E379K; 16:64982166-64982166	urinary_tract; bladder	carcinoma	Substitution - Missense
c.501C>T; p.N167N; 16:64998584-64998584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.501C>T; p.N167N; 16:64998584-64998584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1611C>T; p.H537H; 16:64971610-64971610	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1555G>A; p.D519N; 16:64971666-64971666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.106C>T; p.H36Y; 16:65004764-65004764	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2235T>C; p.Y745Y; 16:64947759-64947759	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.353G>A; p.R118Q; 16:64998732-64998732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.336delC; p.T113fs*14; 16:64998749-64998749	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2129C>T; p.P710L; 16:64947865-64947865	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.83G>A; p.R28Q; 16:65004787-65004787	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2121G>A; p.G707G; 16:64947873-64947873	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.953T>G; p.I318S; 16:64988203-64988203	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>A; p.T190N; 16:64992989-64992989	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2093C>A; p.P698H; 16:64947901-64947901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2101C>T; p.Q701*; 16:64947893-64947893	skin	malignant_melanoma	Substitution - Nonsense
c.2332C>T; p.R778C; 16:64947662-64947662	skin	malignant_melanoma	Substitution - Missense
c.64G>A; p.A22T; 16:65004806-65004806	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1705C>T; p.L569F; 16:64950956-64950956	breast	carcinoma	Substitution - Missense
c.944C>A; p.S315*; 16:64988212-64988212	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.843C>T; p.A281A; 16:64988313-64988313	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.975G>T; p.Q325H; 16:64988181-64988181	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1712C>T; p.P571L; 16:64950949-64950949	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1705C>A; p.L569I; 16:64950956-64950956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1712C>T; p.P571L; 16:64950949-64950949	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2389T>G; p.*797E; 16:64947605-64947605	skin; head_neck	carcinoma; squamous_cell_carcinoma	Nonstop extension
c.1399C>A; p.H467N; 16:64972056-64972056	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1088C>T; p.P363L; 16:64982213-64982213	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2383G>A; p.D795N; 16:64947611-64947611	skin	malignant_melanoma	Substitution - Missense
c.1618A>C; p.N540H; 16:64971603-64971603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.481C>T; p.H161Y; 16:64998604-64998604	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.450G>C; p.Q150H; 16:64998635-64998635	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1739C>T; p.P580L; 16:64950922-64950922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.270C>T; p.Y90Y; 16:64998815-64998815	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.516C>A; p.S172S; 16:64998569-64998569	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.582C>T; p.S194S; 16:64992976-64992976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1642G>T; p.D548Y; 16:64971579-64971579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1642G>T; p.D548Y; 16:64971579-64971579	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1393A>C; p.N465H; 16:64972062-64972062	skin; neck	malignant_melanoma	Substitution - Missense
c.1173A>C; p.E391D; 16:64982128-64982128	urinary_tract; bladder	carcinoma	Substitution - Missense
c.139G>A; p.V47M; 16:65004731-65004731	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1416C>T; p.V472V; 16:64972039-64972039	skin	malignant_melanoma	Substitution - coding silent
c.1558G>T; p.D520Y; 16:64971663-64971663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2244G>T; p.R748S; 16:64947750-64947750	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.81G>A; p.R27R; 16:65004789-65004789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1460A>T; p.K487M; 16:64971995-64971995	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2203C>T; p.P735S; 16:64947791-64947791	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2160C>T; p.F720F; 16:64947834-64947834	skin	malignant_melanoma	Substitution - coding silent
c.2056G>A; p.G686S; 16:64947938-64947938	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1343G>A; p.R448K; 16:64972951-64972951	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2312A>G; p.Y771C; 16:64947682-64947682	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1267C>G; p.R423G; 16:64973027-64973027	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.94C>A; p.R32R; 16:65004776-65004776	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.638A>G; p.Q213R; 16:64992920-64992920	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1068G>A; p.P356P; 16:64982233-64982233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.638A>G; p.Q213R; 16:64992920-64992920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1068G>A; p.P356P; 16:64982233-64982233	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1785C>T; p.C595C; 16:64950876-64950876	stomach	adenocarcinoma	Substitution - coding silent
c.1785C>T; p.C595C; 16:64950876-64950876	pancreas	carcinoma	Substitution - coding silent
c.1068G>A; p.P356P; 16:64982233-64982233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1374C>T; p.V458V; 16:64972920-64972920	skin	malignant_melanoma	Substitution - coding silent
c.495T>C; p.H165H; 16:64998590-64998590	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1197C>T; p.G399G; 16:64982104-64982104	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1140C>A; p.P380P; 16:64982161-64982161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1888C>T; p.L630F; 16:64950773-64950773	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1568A>G; p.N523S; 16:64971653-64971653	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2122C>A; p.L708I; 16:64947872-64947872	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.982delG; p.V328fs*1; 16:64988174-64988174	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.518A>C; p.N173T; 16:64998567-64998567	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2070T>C; p.F690F; 16:64947924-64947924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1931A>C; p.K644T; 16:64948063-64948063	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.79C>A; p.R27R; 16:65004791-65004791	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1619A>T; p.N540I; 16:64971602-64971602	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.254A>G; p.D85G; 16:64998831-64998831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1460A>G; p.K487R; 16:64971995-64971995	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1460A>G; p.K487R; 16:64971995-64971995	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.166G>A; p.V56I; 16:65004704-65004704	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2078G>A; p.R693H; 16:64947916-64947916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.676A>T; p.R226W; 16:64991903-64991903	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.308T>C; p.I103T; 16:64998777-64998777	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1107C>T; p.T369T; 16:64982194-64982194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.400G>A; p.D134N; 16:64998685-64998685	liver	carcinoma	Substitution - Missense
c.400G>A; p.D134N; 16:64998685-64998685	liver	carcinoma	Substitution - Missense
c.2383G>T; p.D795Y; 16:64947611-64947611	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.99C>T; p.P33P; 16:65004771-65004771	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.99C>T; p.P33P; 16:65004771-65004771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1621T>C; p.F541L; 16:64971600-64971600	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.309T>C; p.I103I; 16:64998776-64998776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1116C>T; p.I372I; 16:64982185-64982185	skin	malignant_melanoma	Substitution - coding silent
c.1116C>T; p.I372I; 16:64982185-64982185	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1116C>T; p.I372I; 16:64982185-64982185	skin	malignant_melanoma	Substitution - coding silent
c.2200G>A; p.A734T; 16:64947794-64947794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1556A>G; p.D519G; 16:64971665-64971665	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.990G>A; p.K330K; 16:64988166-64988166	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.124_125GG>TT; p.G42F; 16:65004745-65004746	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1940C>A; p.P647Q; 16:64948054-64948054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.93G>T; p.L31L; 16:65004777-65004777	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2229C>T; p.Y743Y; 16:64947765-64947765	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108G>T; p.V370F; 16:64982193-64982193	oesophagus	carcinoma	Substitution - Missense
c.2229C>T; p.Y743Y; 16:64947765-64947765	oesophagus	carcinoma	Substitution - coding silent
c.1462T>G; p.F488V; 16:64971993-64971993	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1389C>T; p.I463I; 16:64972905-64972905	skin	malignant_melanoma	Substitution - coding silent
c.2001G>A; p.G667G; 16:64947993-64947993	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.184G>C; p.V62L; 16:65004686-65004686	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1691A>C; p.K564T; 16:64950970-64950970	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1467T>C; p.A489A; 16:64971988-64971988	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1467T>C; p.A489A; 16:64971988-64971988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1467T>C; p.A489A; 16:64971988-64971988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.129G>T; p.K43N; 16:65004741-65004741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1467T>C; p.A489A; 16:64971988-64971988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.778G>A; p.D260N; 16:64991801-64991801	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1467T>C; p.A489A; 16:64971988-64971988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1794C>A; p.N598K; 16:64950867-64950867	liver	carcinoma	Substitution - Missense
c.1054G>A; p.V352M; 16:64982247-64982247	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1275T>C; p.T425T; 16:64973019-64973019	skin	malignant_melanoma	Substitution - coding silent
c.180C>A; p.F60L; 16:65004690-65004690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2263C>A; p.L755M; 16:64947731-64947731	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.565C>T; p.P189S; 16:64992993-64992993	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.374C>T; p.T125M; 16:64998711-64998711	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>T; p.A555S; 16:64950998-64950998	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1456C>T; p.P486S; 16:64971999-64971999	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2117C>T; p.P706L; 16:64947877-64947877	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.515C>A; p.S172Y; 16:64998570-64998570	breast	carcinoma	Substitution - Missense
c.1736T>A; p.I579N; 16:64950925-64950925	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.607G>A; p.E203K; 16:64992951-64992951	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.161delG; p.G54fs*9; 16:65004709-65004709	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1159A>G; p.S387G; 16:64982142-64982142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1418C>G; p.P473R; 16:64972037-64972037	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.844G>A; p.V282I; 16:64988312-64988312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.428C>T; p.S143L; 16:64998657-64998657	ovary	other; neoplasm	Substitution - Missense
c.1396C>T; p.R466W; 16:64972059-64972059	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1396C>T; p.R466W; 16:64972059-64972059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.33G>A; p.L11L; 16:65004837-65004837	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.307A>G; p.I103V; 16:64998778-64998778	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1402C>T; p.Q468*; 16:64972053-64972053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.307A>G; p.I103V; 16:64998778-64998778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1509G>A; p.K503K; 16:64971946-64971946	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1465G>T; p.A489S; 16:64971990-64971990	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2143G>T; p.V715L; 16:64947851-64947851	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2082A>G; p.K694K; 16:64947912-64947912	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.111G>A; p.G37G; 16:65004759-65004759	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.906A>T; p.L302F; 16:64988250-64988250	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1795G>A; p.G599R; 16:64950866-64950866	urinary_tract; bladder	carcinoma	Substitution - Missense
c.163T>G; p.W55G; 16:65004707-65004707	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1795G>A; p.G599R; 16:64950866-64950866	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.134G>T; p.G45V; 16:65004736-65004736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1006G>A; p.D336N; 16:64982295-64982295	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2176C>T; p.Q726*; 16:64947818-64947818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.639G>C; p.Q213H; 16:64992919-64992919	pancreas	carcinoma	Substitution - Missense
c.1569T>G; p.N523K; 16:64971652-64971652	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1139C>A; p.P380H; 16:64982162-64982162	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1816G>A; p.A606T; 16:64950845-64950845	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1139C>A; p.P380H; 16:64982162-64982162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.395A>G; p.D132G; 16:64998690-64998690	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.959C>T; p.T320M; 16:64988197-64988197	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.959C>T; p.T320M; 16:64988197-64988197	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.945G>A; p.S315S; 16:64988211-64988211	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.945G>A; p.S315S; 16:64988211-64988211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1424C>T; p.A475V; 16:64972031-64972031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.905T>C; p.L302S; 16:64988251-64988251	NS	NS	Substitution - Missense
c.1077C>T; p.I359I; 16:64982224-64982224	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2142C>G; p.S714R; 16:64947852-64947852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1842C>A; p.G614G; 16:64950819-64950819	skin	malignant_melanoma	Substitution - coding silent
c.1397G>A; p.R466Q; 16:64972058-64972058	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1209G>A; p.G403G; 16:64982092-64982092	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2282C>T; p.A761V; 16:64947712-64947712	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.490T>A; p.Y164N; 16:64998595-64998595	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1359G>A; p.W453*; 16:64972935-64972935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1605C>A; p.I535I; 16:64971616-64971616	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.278C>T; p.S93L; 16:64998807-64998807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2025C>T; p.A675A; 16:64947969-64947969	skin	malignant_melanoma	Substitution - coding silent
c.1670G>A; p.R557H; 16:64950991-64950991	skin	malignant_melanoma	Substitution - Missense
c.1108G>A; p.V370I; 16:64982193-64982193	pancreas	carcinoma	Substitution - Missense
c.523+1G>C; p.?; 16:64998561-64998561	stomach	carcinoma; adenocarcinoma	Unknown
c.1108G>A; p.V370I; 16:64982193-64982193	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1740G>A; p.P580P; 16:64950921-64950921	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1391-3C>T; p.?; 16:64972067-64972067	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2136C>T; p.P712P; 16:64947858-64947858	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101T>G; p.T367T; 16:64982200-64982200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1937A>T; p.E646V; 16:64948057-64948057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2355G>C; p.L785F; 16:64947639-64947639	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1740G>A; p.P580P; 16:64950921-64950921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1937A>T; p.E646V; 16:64948057-64948057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1584C>T; p.I528I; 16:64971637-64971637	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.28G>A; p.A10T; 16:65004842-65004842	pancreas	carcinoma	Substitution - Missense
c.1174G>A; p.V392I; 16:64982127-64982127	haematopoietic_and_lymphoid_tissue; small_intestine	lymphoid_neoplasm; enteropathy_type_T_cell_lymphoma	Substitution - Missense
c.28G>A; p.A10T; 16:65004842-65004842	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.336C>A; p.A112A; 16:64998749-64998749	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2104T>C; p.Y702H; 16:64947890-64947890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.537_538CC>TT; p.Q180*; 16:64993020-64993021	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1053C>T; p.N351N; 16:64982248-64982248	breast	carcinoma	Substitution - coding silent
c.2104T>C; p.Y702H; 16:64947890-64947890	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1053C>T; p.N351N; 16:64982248-64982248	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.459T>C; p.N153N; 16:64998626-64998626	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1268G>A; p.R423H; 16:64973026-64973026	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1268G>A; p.R423H; 16:64973026-64973026	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1046C>A; p.A349E; 16:64982255-64982255	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.777C>T; p.T259T; 16:64991802-64991802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1855G>A; p.A619T; 16:64950806-64950806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1815C>T; p.N605N; 16:64950846-64950846	prostate	carcinoma	Substitution - coding silent
c.1510C>T; p.P504S; 16:64971945-64971945	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1390+1G>A; p.?; 16:64972903-64972903	endometrium	carcinoma; serous_carcinoma	Unknown
c.1815C>T; p.N605N; 16:64950846-64950846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2302G>T; p.D768Y; 16:64947692-64947692	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.857A>C; p.E286A; 16:64988299-64988299	liver	carcinoma	Substitution - Missense
c.857A>C; p.E286A; 16:64988299-64988299	liver	carcinoma	Substitution - Missense
c.1171G>A; p.E391K; 16:64982130-64982130	skin	malignant_melanoma	Substitution - Missense
c.1171G>A; p.E391K; 16:64982130-64982130	skin	malignant_melanoma	Substitution - Missense
c.991C>A; p.L331M; 16:64988165-64988165	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1171G>A; p.E391K; 16:64982130-64982130	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1891C>T; p.L631L; 16:64950770-64950770	skin	malignant_melanoma	Substitution - coding silent
c.980G>T; p.G327V; 16:64988176-64988176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2128C>T; p.P710S; 16:64947866-64947866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2128C>T; p.P710S; 16:64947866-64947866	breast	carcinoma	Substitution - Missense
c.352C>T; p.R118*; 16:64998733-64998733	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.212C>T; p.P71L; 16:65004658-65004658	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2210A>G; p.Y737C; 16:64947784-64947784	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2195C>A; p.P732H; 16:64947799-64947799	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1038G>A; p.K346K; 16:64982263-64982263	prostate	carcinoma	Substitution - coding silent
c.1537A>G; p.I513V; 16:64971684-64971684	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1359G>T; p.W453C; 16:64972935-64972935	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.785A>G; p.N262S; 16:64991794-64991794	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1070A>C; p.K357T; 16:64982231-64982231	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1070A>C; p.K357T; 16:64982231-64982231	ovary	carcinoma	Substitution - Missense
c.1070A>C; p.K357T; 16:64982231-64982231	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1070A>C; p.K357T; 16:64982231-64982231	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.813C>T; p.S271S; 16:64988343-64988343	liver	carcinoma	Substitution - coding silent
c.725G>A; p.G242D; 16:64991854-64991854	liver	carcinoma	Substitution - Missense
c.2114G>T; p.R705I; 16:64947880-64947880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.725G>A; p.G242D; 16:64991854-64991854	liver	carcinoma	Substitution - Missense
c.1170C>T; p.H390H; 16:64982131-64982131	pancreas	carcinoma	Substitution - coding silent
c.1070A>G; p.K357R; 16:64982231-64982231	skin	malignant_melanoma	Substitution - Missense
c.1170C>T; p.H390H; 16:64982131-64982131	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1576A>C; p.R526R; 16:64971645-64971645	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1938A>T; p.E646D; 16:64948056-64948056	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1472delC; p.P491fs*82; 16:64971983-64971983	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.149G>T; p.R50L; 16:65004721-65004721	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2077delC; p.R693fs*63; 16:64947917-64947917	stomach	adenocarcinoma	Deletion - Frameshift
c.1918C>A; p.L640M; 16:64948076-64948076	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.633A>G; p.E211E; 16:64992925-64992925	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.894A>G; p.G298G; 16:64988262-64988262	skin	malignant_melanoma	Substitution - coding silent
c.2264T>C; p.L755P; 16:64947730-64947730	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>A; p.A622T; 16:64950797-64950797	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1864G>A; p.A622T; 16:64950797-64950797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1572A>C; p.G524G; 16:64971649-64971649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1864G>A; p.A622T; 16:64950797-64950797	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.32T>C; p.L11P; 16:65004838-65004838	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.606C>T; p.L202L; 16:64992952-64992952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1390C>T; p.H464Y; 16:64972904-64972904	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1390C>T; p.H464Y; 16:64972904-64972904	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1390C>T; p.H464Y; 16:64972904-64972904	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1390C>T; p.H464Y; 16:64972904-64972904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.148C>T; p.R50C; 16:65004722-65004722	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1364A>G; p.N455S; 16:64972930-64972930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.148C>T; p.R50C; 16:65004722-65004722	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.961G>A; p.D321N; 16:64988195-64988195	skin	malignant_melanoma	Substitution - Missense
c.2191G>T; p.D731Y; 16:64947803-64947803	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.393G>A; p.V131V; 16:64998692-64998692	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.405C>G; p.T135T; 16:64998680-64998680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2130A>G; p.P710P; 16:64947864-64947864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.376T>G; p.L126V; 16:64998709-64998709	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1112A>T; p.K371M; 16:64982189-64982189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2130A>G; p.P710P; 16:64947864-64947864	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1989T>C; p.Y663Y; 16:64948005-64948005	bone; pelvis	chondrosarcoma	Substitution - coding silent
c.760G>T; p.V254L; 16:64991819-64991819	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.787G>C; p.D263H; 16:64991792-64991792	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.664C>T; p.P222S; 16:64991915-64991915	liver	carcinoma	Substitution - Missense
c.942A>C; p.E314D; 16:64988214-64988214	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1137G>T; p.E379D; 16:64982164-64982164	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1035G>C; p.L345F; 16:64982266-64982266	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.738C>A; p.G246G; 16:64991841-64991841	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1794C>T; p.N598N; 16:64950867-64950867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1794C>T; p.N598N; 16:64950867-64950867	oesophagus	carcinoma	Substitution - coding silent
c.344C>T; p.T115M; 16:64998741-64998741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.420G>A; p.E140E; 16:64998665-64998665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1794C>T; p.N598N; 16:64950867-64950867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.574G>A; p.G192R; 16:64992984-64992984	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2125C>T; p.R709W; 16:64947869-64947869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2382C>T; p.D794D; 16:64947612-64947612	large_intestine; colon	NS	Substitution - coding silent
c.2125C>T; p.R709W; 16:64947869-64947869	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.430G>A; p.E144K; 16:64998655-64998655	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.553G>T; p.D185Y; 16:64993005-64993005	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.183C>T; p.F61F; 16:65004687-65004687	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.183C>T; p.F61F; 16:65004687-65004687	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.796_797CC>TT; p.P266L; 16:64991782-64991783	NS	malignant_melanoma	Substitution - Missense
c.1881C>T; p.I627I; 16:64950780-64950780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.796_797CC>TT; p.P266L; 16:64991782-64991783	NS	malignant_melanoma	Substitution - Missense
c.2041C>T; p.L681F; 16:64947953-64947953	liver	carcinoma	Substitution - Missense
c.2041C>T; p.L681F; 16:64947953-64947953	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1312G>A; p.G438S; 16:64972982-64972982	skin	malignant_melanoma	Substitution - Missense
c.2199G>T; p.T733T; 16:64947795-64947795	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1788C>T; p.D596D; 16:64950873-64950873	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1419A>T; p.P473P; 16:64972036-64972036	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1121T>G; p.V374G; 16:64982180-64982180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1446C>T; p.N482N; 16:64972009-64972009	pancreas	carcinoma	Substitution - coding silent
c.1446C>T; p.N482N; 16:64972009-64972009	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.724G>A; p.G242S; 16:64991855-64991855	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.724G>A; p.G242S; 16:64991855-64991855	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1446C>T; p.N482N; 16:64972009-64972009	pancreas	carcinoma	Substitution - coding silent
c.2243G>A; p.R748K; 16:64947751-64947751	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1726G>A; p.D576N; 16:64950935-64950935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.262A>G; p.I88V; 16:64998823-64998823	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.724G>A; p.G242S; 16:64991855-64991855	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.765G>A; p.T255T; 16:64991814-64991814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.471G>A; p.P157P; 16:64998614-64998614	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.318A>G; p.K106K; 16:64998767-64998767	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.471G>A; p.P157P; 16:64998614-64998614	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.318A>G; p.K106K; 16:64998767-64998767	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.318A>G; p.K106K; 16:64998767-64998767	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.57_62delCAGCCA; p.S20_H21delSH; 16:65004808-65004813	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.1814A>T; p.N605I; 16:64950847-64950847	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.V272I; 16:64988342-64988342	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.V272I; 16:64988342-64988342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.V272I; 16:64988342-64988342	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1814A>T; p.N605I; 16:64950847-64950847	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.429G>A; p.S143S; 16:64998656-64998656	pancreas	carcinoma	Substitution - coding silent
c.429G>A; p.S143S; 16:64998656-64998656	skin	malignant_melanoma	Substitution - coding silent
c.426G>A; p.P142P; 16:64998659-64998659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1969C>T; p.R657C; 16:64948025-64948025	prostate	carcinoma	Substitution - Missense
c.998delA; p.K333fs*3; 16:64988158-64988158	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1969C>T; p.R657C; 16:64948025-64948025	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1426A>G; p.I476V; 16:64972029-64972029	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1969C>T; p.R657C; 16:64948025-64948025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1167C>T; p.I389I; 16:64982134-64982134	breast	carcinoma	Substitution - coding silent
c.502G>A; p.V168M; 16:64998583-64998583	breast	carcinoma	Substitution - Missense
c.1863C>T; p.I621I; 16:64950798-64950798	skin	malignant_melanoma	Substitution - coding silent
c.502G>A; p.V168M; 16:64998583-64998583	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; mast_cell_neoplasm	Substitution - Missense
c.980G>C; p.G327A; 16:64988176-64988176	liver	carcinoma	Substitution - Missense
c.502G>A; p.V168M; 16:64998583-64998583	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Substitution - Missense
c.502G>A; p.V168M; 16:64998583-64998583	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1863C>T; p.I621I; 16:64950798-64950798	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1063G>T; p.D355Y; 16:64982238-64982238	thyroid	carcinoma	Substitution - Missense
c.502G>A; p.V168M; 16:64998583-64998583	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2050C>T; p.P684S; 16:64947944-64947944	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.129G>A; p.K43K; 16:65004741-65004741	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1269T>C; p.R423R; 16:64973025-64973025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.699C>G; p.H233Q; 16:64991880-64991880	breast	carcinoma	Substitution - Missense
c.2301G>A; p.L767L; 16:64947693-64947693	skin	malignant_melanoma	Substitution - coding silent
c.484G>A; p.E162K; 16:64998601-64998601	skin	malignant_melanoma	Substitution - Missense
c.1570G>A; p.G524R; 16:64971651-64971651	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2341A>G; p.K781E; 16:64947653-64947653	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1667G>A; p.R556Q; 16:64950994-64950994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1642+1G>A; p.?; 16:64971578-64971578	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1544C>T; p.A515V; 16:64971677-64971677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.23A>G; p.Q8R; 16:65004847-65004847	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2363C>T; p.S788F; 16:64947631-64947631	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1938A>C; p.E646D; 16:64948056-64948056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.135G>A; p.G45G; 16:65004735-65004735	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.866G>A; p.R289K; 16:64988290-64988290	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.831G>C; p.V277V; 16:64988325-64988325	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1038G>T; p.K346N; 16:64982263-64982263	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.626C>T; p.S209L; 16:64992932-64992932	liver	carcinoma	Substitution - Missense
c.1797G>T; p.G599G; 16:64950864-64950864	skin	malignant_melanoma	Substitution - coding silent
c.1505C>G; p.T502S; 16:64971950-64971950	parathyroid	adenoma	Substitution - Missense
c.626C>T; p.S209L; 16:64992932-64992932	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1227C>T; p.D409D; 16:64982074-64982074	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1870C>A; p.L624I; 16:64950791-64950791	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.867A>G; p.R289R; 16:64988289-64988289	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1870C>A; p.L624I; 16:64950791-64950791	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1870C>A; p.L624I; 16:64950791-64950791	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1640G>A; p.R547Q; 16:64971581-64971581	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1870C>A; p.L624I; 16:64950791-64950791	large_intestine; colon	carcinoma	Substitution - Missense
c.1870C>A; p.L624I; 16:64950791-64950791	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.G247R; 16:64991840-64991840	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2309A>T; p.D770V; 16:64947685-64947685	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2309A>T; p.D770V; 16:64947685-64947685	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1466C>T; p.A489V; 16:64971989-64971989	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.825G>A; p.M275I; 16:64988331-64988331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.825G>A; p.M275I; 16:64988331-64988331	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1466C>T; p.A489V; 16:64971989-64971989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1685G>A; p.R562Q; 16:64950976-64950976	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1041A>T; p.V347V; 16:64982260-64982260	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1639C>G; p.R547G; 16:64971582-64971582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1200C>T; p.T400T; 16:64982101-64982101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2301G>T; p.L767F; 16:64947693-64947693	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.884C>A; p.P295Q; 16:64988272-64988272	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>T; p.R53L; 16:65004712-65004712	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.660C>T; p.A220A; 16:64991919-64991919	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2306A>C; p.Y769S; 16:64947688-64947688	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1063G>A; p.D355N; 16:64982238-64982238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.290C>T; p.A97V; 16:64998795-64998795	ovary	other; neoplasm	Substitution - Missense
c.2040C>T; p.T680T; 16:64947954-64947954	skin	malignant_melanoma	Substitution - coding silent
c.175C>T; p.Q59*; 16:65004695-65004695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.286G>T; p.G96*; 16:64998799-64998799	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1689G>A; p.Q563Q; 16:64950972-64950972	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.286G>T; p.G96*; 16:64998799-64998799	large_intestine; colon	carcinoma	Substitution - Nonsense
c.80G>A; p.R27Q; 16:65004790-65004790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.286G>T; p.G96*; 16:64998799-64998799	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2332C>A; p.R778S; 16:64947662-64947662	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2077C>T; p.R693C; 16:64947917-64947917	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2077C>T; p.R693C; 16:64947917-64947917	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.375G>A; p.T125T; 16:64998710-64998710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2065G>A; p.G689R; 16:64947929-64947929	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2332C>A; p.R778S; 16:64947662-64947662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1836C>T; p.N612N; 16:64950825-64950825	thyroid	carcinoma	Substitution - coding silent
c.1580T>G; p.F527C; 16:64971641-64971641	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.764C>T; p.T255M; 16:64991815-64991815	thyroid	other; neoplasm	Substitution - Missense
c.1413A>T; p.K471N; 16:64972042-64972042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.818A>G; p.Y273C; 16:64988338-64988338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.410G>A; p.R137Q; 16:64998675-64998675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2255C>T; p.A752V; 16:64947739-64947739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.S184L; 16:64993007-64993007	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.1696G>A; p.D566N; 16:64950965-64950965	skin	malignant_melanoma	Substitution - Missense
c.661C>A; p.L221I; 16:64991918-64991918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]