Entrez Gene

Basic Information
Gene ID	8567
Name	MADD
Synonymous	MAP-kinase activating death domain;MADD;MAP-kinase activating death domain
Definition	MAP kinase-activating death domain protein\|Rab3 GDP/GTP exchange factor\|differentially expressed in normal and neoplastic cells\|insulinoma glucagonoma clone 20
Position	11p11.2
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

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 0.10.

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.1512delG; p.G505fs*17; 11:47282423-47282423	breast	carcinoma	Deletion - Frameshift
c.1272G>T; p.L424L; 11:47279061-47279061	breast	carcinoma	Substitution - coding silent
c.4610A>T; p.K1537I; 11:47324332-47324332	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2620C>G; p.R874G; 11:47286501-47286501	skin	malignant_melanoma	Substitution - Missense
c.2898G>A; p.V966V; 11:47289948-47289948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1503C>T; p.N501N; 11:47282414-47282414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2096G>A; p.R699H; 11:47284504-47284504	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3704G>A; p.R1235Q; 11:47296000-47296000	pancreas	carcinoma	Substitution - Missense
c.349C>T; p.R117C; 11:47274849-47274849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3704G>A; p.R1235Q; 11:47296000-47296000	pancreas	carcinoma	Substitution - Missense
c.1814T>C; p.L605P; 11:47282921-47282921	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3457G>C; p.E1153Q; 11:47293924-47293924	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3704G>A; p.R1235Q; 11:47296000-47296000	pancreas	carcinoma	Substitution - Missense
c.1910_1911CC>TT; p.S637F; 11:47284225-47284226	skin	malignant_melanoma	Substitution - Missense
c.2335delT; p.P781fs*34; 11:47285118-47285118	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2346G>A; p.E782E; 11:47285129-47285129	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3623C>T; p.T1208I; 11:47295919-47295919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.832C>T; p.P278S; 11:47276071-47276071	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2063A>T; p.D688V; 11:47284471-47284471	breast	carcinoma	Substitution - Missense
c.2480G>T; p.R827L; 11:47285519-47285519	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4442A>T; p.E1481V; 11:47323735-47323735	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2312C>T; p.P771L; 11:47285095-47285095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4307G>A; p.R1436Q; 11:47315257-47315257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4771G>A; p.V1591I; 11:47326786-47326786	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1407G>A; p.P469P; 11:47281691-47281691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2640C>T; p.F880F; 11:47286521-47286521	skin	malignant_melanoma	Substitution - coding silent
c.1530G>A; p.T510T; 11:47282441-47282441	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1532G>A; p.R511H; 11:47282443-47282443	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.252G>A; p.K84K; 11:47274752-47274752	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1718C>T; p.P573L; 11:47282825-47282825	skin	malignant_melanoma	Substitution - Missense
c.3229C>T; p.R1077W; 11:47290684-47290684	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.662A>G; p.D221G; 11:47275901-47275901	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3519G>T; p.R1173S; 11:47295498-47295498	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3499C>A; p.L1167M; 11:47293966-47293966	breast	carcinoma	Substitution - Missense
c.4441G>C; p.E1481Q; 11:47323734-47323734	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4445A>C; p.K1482T; 11:47323738-47323738	skin	malignant_melanoma	Substitution - Missense
c.1862+2T>C; p.?; 11:47282971-47282971	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2800C>T; p.R934*; 11:47289477-47289477	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3713_3716delTGTC; p.S1239fs*20; 11:47296009-47296012	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.348_349CC>TT; p.R117C; 11:47274848-47274849	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1498G>A; p.A500T; 11:47282409-47282409	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1498G>A; p.A500T; 11:47282409-47282409	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3967T>G; p.F1323V; 11:47309316-47309316	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.528C>T; p.S176S; 11:47275028-47275028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4084C>T; p.R1362C; 11:47309538-47309538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3226G>C; p.G1076R; 11:47290681-47290681	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.508C>T; p.R170C; 11:47275008-47275008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2681T>G; p.I894S; 11:47288995-47288995	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3139C>T; p.H1047Y; 11:47290284-47290284	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1984C>G; p.H662D; 11:47284392-47284392	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.790C>A; p.Q264K; 11:47276029-47276029	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.4543-1G>T; p.?; 11:47324264-47324264	ovary	carcinoma; serous_carcinoma	Unknown
c.4516C>A; p.Q1506K; 11:47323809-47323809	skin	malignant_melanoma	Substitution - Missense
c.1288C>T; p.Q430*; 11:47279077-47279077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1083A>G; p.A361A; 11:47276851-47276851	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1210-2A>T; p.?; 11:47278997-47278997	lung	carcinoma; adenocarcinoma	Unknown
c.1024A>G; p.M342V; 11:47276792-47276792	liver	carcinoma	Substitution - Missense
c.1024A>G; p.M342V; 11:47276792-47276792	liver	carcinoma	Substitution - Missense
c.2524G>A; p.G842S; 11:47285563-47285563	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3046A>T; p.K1016*; 11:47290191-47290191	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3249G>T; p.M1083I; 11:47290704-47290704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.922G>A; p.A308T; 11:47276161-47276161	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4877C>T; p.S1626L; 11:47329083-47329083	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.865C>T; p.R289*; 11:47276104-47276104	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1922T>A; p.F641Y; 11:47284237-47284237	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.137T>G; p.F46C; 11:47274637-47274637	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1040A>C; p.E347A; 11:47276808-47276808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.903G>A; p.L301L; 11:47276142-47276142	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1245C>T; p.I415I; 11:47279034-47279034	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4595G>A; p.R1532Q; 11:47324317-47324317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2985G>A; p.Q995Q; 11:47290035-47290035	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4239C>A; p.I1413I; 11:47311812-47311812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.76G>C; p.D26H; 11:47274576-47274576	breast	carcinoma	Substitution - Missense
c.2224G>A; p.V742M; 11:47285007-47285007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1670A>T; p.N557I; 11:47282581-47282581	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1540C>T; p.R514C; 11:47282451-47282451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1540C>T; p.R514C; 11:47282451-47282451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1141T>C; p.F381L; 11:47278210-47278210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1705+1G>T; p.?; 11:47282617-47282617	breast	carcinoma	Unknown
c.2320G>A; p.E774K; 11:47285103-47285103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.267G>A; p.T89T; 11:47274767-47274767	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4499G>T; p.R1500I; 11:47323792-47323792	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.267G>A; p.T89T; 11:47274767-47274767	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1553G>A; p.R518Q; 11:47282464-47282464	skin	malignant_melanoma	Substitution - Missense
c.1553G>A; p.R518Q; 11:47282464-47282464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4270-2A>G; p.?; 11:47315218-47315218	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3763A>G; p.K1255E; 11:47308594-47308594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3837C>T; p.S1279S; 11:47308668-47308668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4795C>T; p.P1599S; 11:47328660-47328660	skin	malignant_melanoma	Substitution - Missense
c.3837C>T; p.S1279S; 11:47308668-47308668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1306A>T; p.S436C; 11:47281590-47281590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.484C>T; p.R162W; 11:47274984-47274984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>C; p.A165P; 11:47274993-47274993	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.3676G>A; p.E1226K; 11:47295972-47295972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4278C>T; p.R1426R; 11:47315228-47315228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4860C>A; p.S1620S; 11:47329066-47329066	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4860C>A; p.S1620S; 11:47329066-47329066	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4671C>T; p.G1557G; 11:47324526-47324526	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4205A>G; p.K1402R; 11:47311778-47311778	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4205A>G; p.K1402R; 11:47311778-47311778	liver	carcinoma	Substitution - Missense
c.3226G>T; p.G1076W; 11:47290681-47290681	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2077C>T; p.Q693*; 11:47284485-47284485	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2318T>G; p.F773C; 11:47285101-47285101	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1350G>A; p.E450E; 11:47281634-47281634	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3477C>G; p.I1159M; 11:47293944-47293944	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3281G>A; p.R1094Q; 11:47290736-47290736	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2382C>T; p.P794P; 11:47285165-47285165	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.446C>G; p.S149C; 11:47274946-47274946	breast	carcinoma	Substitution - Missense
c.140C>A; p.P47H; 11:47274640-47274640	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3281G>A; p.R1094Q; 11:47290736-47290736	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4476G>A; p.T1492T; 11:47323769-47323769	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4476G>A; p.T1492T; 11:47323769-47323769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4792+2T>C; p.?; 11:47326809-47326809	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4137C>A; p.I1379I; 11:47309591-47309591	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4530C>G; p.F1510L; 11:47323823-47323823	ovary	other; neoplasm	Substitution - Missense
c.1807G>A; p.E603K; 11:47282914-47282914	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1807G>A; p.E603K; 11:47282914-47282914	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1807G>A; p.E603K; 11:47282914-47282914	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2251G>A; p.V751M; 11:47285034-47285034	thyroid	other; neoplasm	Substitution - Missense
c.4053-10T>G; p.?; 11:47309497-47309497	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3801G>A; p.L1267L; 11:47308632-47308632	breast	carcinoma	Substitution - coding silent
c.4426G>C; p.E1476Q; 11:47323719-47323719	breast	carcinoma	Substitution - Missense
c.591G>A; p.K197K; 11:47275091-47275091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.783C>A; p.V261V; 11:47276022-47276022	breast	carcinoma	Substitution - coding silent
c.1667T>G; p.L556R; 11:47282578-47282578	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2207C>G; p.S736C; 11:47284990-47284990	breast	carcinoma	Substitution - Missense
c.1844C>T; p.S615F; 11:47282951-47282951	skin	malignant_melanoma	Substitution - Missense
c.4125G>A; p.L1375L; 11:47309579-47309579	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.506C>G; p.S169C; 11:47275006-47275006	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4048G>A; p.D1350N; 11:47309397-47309397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4801A>G; p.I1601V; 11:47328666-47328666	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2899C>T; p.R967C; 11:47289949-47289949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2291G>A; p.R764H; 11:47285074-47285074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.518C>T; p.T173I; 11:47275018-47275018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2899C>T; p.R967C; 11:47289949-47289949	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2763C>T; p.S921S; 11:47289440-47289440	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2190G>T; p.K730N; 11:47284973-47284973	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.4632C>T; p.G1544G; 11:47324487-47324487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4927C>T; p.R1643W; 11:47329133-47329133	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3383A>C; p.E1128A; 11:47292564-47292564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3061A>G; p.S1021G; 11:47290206-47290206	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.10A>C; p.K4Q; 11:47273924-47273924	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4383C>T; p.C1461C; 11:47323676-47323676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3061A>G; p.S1021G; 11:47290206-47290206	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1292C>T; p.A431V; 11:47281576-47281576	skin	malignant_melanoma	Substitution - Missense
c.3681C>T; p.G1227G; 11:47295977-47295977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3804A>T; p.A1268A; 11:47308635-47308635	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1440T>C; p.N480N; 11:47281724-47281724	thyroid	other; neoplasm	Substitution - coding silent
c.1440T>C; p.N480N; 11:47281724-47281724	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2694C>T; p.A898A; 11:47289008-47289008	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.3531_3532delCT; p.S1178fs*18; 11:47295510-47295511	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.279C>A; p.I93I; 11:47274779-47274779	breast	carcinoma	Substitution - coding silent
c.3889T>C; p.W1297R; 11:47309000-47309000	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.4699A>G; p.N1567D; 11:47324554-47324554	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.485G>T; p.R162L; 11:47274985-47274985	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1980G>C; p.L660L; 11:47284388-47284388	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1779C>T; p.R593R; 11:47282886-47282886	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2660G>A; p.G887E; 11:47288974-47288974	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1362C>T; p.I454I; 11:47281646-47281646	skin	malignant_melanoma	Substitution - coding silent
c.1213A>T; p.I405F; 11:47279002-47279002	urinary_tract; bladder	carcinoma	Substitution - Missense
c.555C>G; p.F185L; 11:47275055-47275055	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3110T>C; p.I1037T; 11:47290255-47290255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4323G>T; p.Q1441H; 11:47315273-47315273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1552C>T; p.R518W; 11:47282463-47282463	central_nervous_system; brain	glioma	Substitution - Missense
c.2479C>A; p.R827R; 11:47285518-47285518	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4274G>T; p.G1425V; 11:47315224-47315224	breast	carcinoma	Substitution - Missense
c.2290C>T; p.R764C; 11:47285073-47285073	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2290C>T; p.R764C; 11:47285073-47285073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1598C>T; p.P533L; 11:47282509-47282509	breast	carcinoma	Substitution - Missense
c.3984C>T; p.F1328F; 11:47309333-47309333	skin	malignant_melanoma	Substitution - coding silent
c.1665C>T; p.I555I; 11:47282576-47282576	skin	malignant_melanoma	Substitution - coding silent
c.3757T>A; p.F1253I; 11:47296053-47296053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2247G>A; p.S749S; 11:47285030-47285030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4079G>A; p.R1360Q; 11:47309533-47309533	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2149G>A; p.A717T; 11:47284557-47284557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.781G>A; p.V261I; 11:47276020-47276020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4713G>A; p.M1571I; 11:47324568-47324568	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2659G>A; p.G887R; 11:47288973-47288973	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4576A>G; p.M1526V; 11:47324298-47324298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1081G>A; p.A361T; 11:47276849-47276849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3018G>T; p.K1006N; 11:47290163-47290163	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2563C>T; p.R855W; 11:47286444-47286444	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.426G>A; p.L142L; 11:47274926-47274926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1280A>G; p.H427R; 11:47279069-47279069	prostate	carcinoma	Substitution - Missense
c.3471C>T; p.S1157S; 11:47293938-47293938	skin	malignant_melanoma	Substitution - coding silent
c.4742A>G; p.H1581R; 11:47326757-47326757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2634G>A; p.T878T; 11:47286515-47286515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2634G>A; p.T878T; 11:47286515-47286515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2634G>A; p.T878T; 11:47286515-47286515	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3138C>A; p.T1046T; 11:47290283-47290283	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2564G>A; p.R855Q; 11:47286445-47286445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1862+1G>T; p.?; 11:47282970-47282970	lung	carcinoma; adenocarcinoma	Unknown
c.4262C>T; p.A1421V; 11:47311835-47311835	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3770A>G; p.H1257R; 11:47308601-47308601	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4252G>A; p.D1418N; 11:47311825-47311825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4306C>T; p.R1436W; 11:47315256-47315256	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1419C>A; p.F473L; 11:47281703-47281703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3798G>C; p.K1266N; 11:47308629-47308629	breast	carcinoma	Substitution - Missense
c.4818C>T; p.S1606S; 11:47328683-47328683	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2557C>A; p.L853I; 11:47286438-47286438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2218C>T; p.P740S; 11:47285001-47285001	skin	malignant_melanoma	Substitution - Missense
c.214C>T; p.R72W; 11:47274714-47274714	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2218C>T; p.P740S; 11:47285001-47285001	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4355_4356AC>TT; p.N1452I; 11:47315305-47315306	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2087C>T; p.P696L; 11:47284495-47284495	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.4859C>T; p.S1620F; 11:47329065-47329065	skin	malignant_melanoma	Substitution - Missense
c.4859C>T; p.S1620F; 11:47329065-47329065	skin	malignant_melanoma	Substitution - Missense
c.4859C>T; p.S1620F; 11:47329065-47329065	skin	malignant_melanoma	Substitution - Missense
c.2087C>T; p.P696L; 11:47284495-47284495	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.4827C>T; p.Y1609Y; 11:47328692-47328692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4859C>T; p.S1620F; 11:47329065-47329065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4859C>T; p.S1620F; 11:47329065-47329065	skin	malignant_melanoma	Substitution - Missense
c.4554G>A; p.L1518L; 11:47324276-47324276	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4365C>A; p.I1455I; 11:47315315-47315315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2464G>A; p.A822T; 11:47285503-47285503	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4365C>A; p.I1455I; 11:47315315-47315315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.136T>C; p.F46L; 11:47274636-47274636	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4572C>T; p.D1524D; 11:47324294-47324294	liver	carcinoma	Substitution - coding silent
c.3980C>T; p.A1327V; 11:47309329-47309329	skin	malignant_melanoma	Substitution - Missense
c.1686C>T; p.A562A; 11:47282597-47282597	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2231C>T; p.P744L; 11:47285014-47285014	skin; arm	malignant_melanoma	Substitution - Missense
c.2425C>A; p.L809M; 11:47285464-47285464	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.956A>G; p.E319G; 11:47276195-47276195	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4135A>G; p.I1379V; 11:47309589-47309589	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.4584C>T; p.R1528R; 11:47324306-47324306	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3316C>T; p.L1106L; 11:47290771-47290771	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1234G>A; p.V412M; 11:47279023-47279023	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2532G>A; p.G844G; 11:47285571-47285571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2532G>A; p.G844G; 11:47285571-47285571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1539G>C; p.L513L; 11:47282450-47282450	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4583G>A; p.R1528H; 11:47324305-47324305	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4861G>A; p.V1621I; 11:47329067-47329067	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1106C>T; p.A369V; 11:47278175-47278175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4861G>A; p.V1621I; 11:47329067-47329067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4861G>A; p.V1621I; 11:47329067-47329067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4583G>A; p.R1528H; 11:47324305-47324305	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.76G>A; p.D26N; 11:47274576-47274576	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.899C>T; p.P300L; 11:47276138-47276138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.910C>G; p.L304V; 11:47276149-47276149	breast	carcinoma	Substitution - Missense
c.690G>A; p.S230S; 11:47275929-47275929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.808G>A; p.E270K; 11:47276047-47276047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4846G>A; p.E1616K; 11:47329052-47329052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4928G>A; p.R1643Q; 11:47329134-47329134	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1970T>C; p.V657A; 11:47284378-47284378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4158G>A; p.K1386K; 11:47309612-47309612	pancreas	carcinoma	Substitution - coding silent
c.1048T>A; p.F350I; 11:47276816-47276816	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4592C>T; p.A1531V; 11:47324314-47324314	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4653G>A; p.L1551L; 11:47324508-47324508	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4653G>A; p.L1551L; 11:47324508-47324508	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2904G>A; p.R968R; 11:47289954-47289954	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2624A>T; p.E875V; 11:47286505-47286505	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1717C>T; p.P573S; 11:47282824-47282824	skin	malignant_melanoma	Substitution - Missense
c.4414G>A; p.G1472R; 11:47323707-47323707	breast	carcinoma	Substitution - Missense
c.4817G>A; p.S1606N; 11:47328682-47328682	breast	carcinoma	Substitution - Missense
c.299C>T; p.S100F; 11:47274799-47274799	skin	malignant_melanoma	Substitution - Missense
c.2412-1G>T; p.?; 11:47285450-47285450	lung	carcinoma; adenocarcinoma	Unknown
c.4765C>T; p.R1589*; 11:47326780-47326780	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4765C>T; p.R1589*; 11:47326780-47326780	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4222G>C; p.V1408L; 11:47311795-47311795	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2230C>T; p.P744S; 11:47285013-47285013	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1881T>C; p.D627D; 11:47284196-47284196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1363C>T; p.P455S; 11:47281647-47281647	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.388G>T; p.E130*; 11:47274888-47274888	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.914G>A; p.G305D; 11:47276153-47276153	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1059C>T; p.I353I; 11:47276827-47276827	skin	malignant_melanoma	Substitution - coding silent
c.1874G>A; p.S625N; 11:47284189-47284189	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3903G>A; p.E1301E; 11:47309014-47309014	skin	malignant_melanoma	Substitution - coding silent
c.1810G>A; p.A604T; 11:47282917-47282917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3293C>T; p.A1098V; 11:47290748-47290748	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2638T>A; p.F880I; 11:47286519-47286519	skin	malignant_melanoma	Substitution - Missense
c.1443T>A; p.D481E; 11:47281727-47281727	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2022C>T; p.D674D; 11:47284430-47284430	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2917G>A; p.E973K; 11:47289967-47289967	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3976G>A; p.D1326N; 11:47309325-47309325	breast	carcinoma	Substitution - Missense
c.4099G>A; p.E1367K; 11:47309553-47309553	breast	carcinoma	Substitution - Missense
c.2219C>T; p.P740L; 11:47285002-47285002	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.674G>A; p.R225Q; 11:47275913-47275913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.175G>A; p.E59K; 11:47274675-47274675	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.175G>A; p.E59K; 11:47274675-47274675	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4918A>C; p.T1640P; 11:47329124-47329124	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.789G>A; p.G263G; 11:47276028-47276028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1033C>T; p.P345S; 11:47276801-47276801	skin	malignant_melanoma	Substitution - Missense
c.1800G>C; p.Q600H; 11:47282907-47282907	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4496G>A; p.R1499H; 11:47323789-47323789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4105C>T; p.R1369C; 11:47309559-47309559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2095C>T; p.R699C; 11:47284503-47284503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.604T>C; p.C202R; 11:47275104-47275104	skin	malignant_melanoma	Substitution - Missense
c.3331T>C; p.L1111L; 11:47290786-47290786	pancreas	carcinoma	Substitution - coding silent
c.1601G>A; p.R534Q; 11:47282512-47282512	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.110G>A; p.R37Q; 11:47274610-47274610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3934A>C; p.K1312Q; 11:47309283-47309283	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3103G>A; p.A1035T; 11:47290248-47290248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2903G>A; p.R968Q; 11:47289953-47289953	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.V502M; 11:47282415-47282415	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4364T>C; p.I1455T; 11:47315314-47315314	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3424G>T; p.V1142L; 11:47293891-47293891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2767A>G; p.T923A; 11:47289444-47289444	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2885A>G; p.N962S; 11:47289935-47289935	skin	malignant_melanoma	Substitution - Missense
c.3708C>T; p.G1236G; 11:47296004-47296004	skin	malignant_melanoma	Substitution - coding silent
c.4378-1G>C; p.?; 11:47323670-47323670	prostate	carcinoma; adenocarcinoma	Unknown
c.4909G>A; p.D1637N; 11:47329115-47329115	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.81C>T; p.S27S; 11:47274581-47274581	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4909G>A; p.D1637N; 11:47329115-47329115	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3401C>T; p.A1134V; 11:47292582-47292582	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4282C>A; p.L1428I; 11:47315232-47315232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2698C>T; p.P900S; 11:47289012-47289012	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3625C>A; p.L1209I; 11:47295921-47295921	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>T; p.R256L; 11:47276006-47276006	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3660T>G; p.G1220G; 11:47295956-47295956	breast	carcinoma	Substitution - coding silent
c.850_853delCTTC; p.L284fs*8; 11:47276089-47276092	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.457G>A; p.V153M; 11:47274957-47274957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2785C>A; p.P929T; 11:47289462-47289462	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.4192C>T; p.R1398C; 11:47311765-47311765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1041G>A; p.E347E; 11:47276809-47276809	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.295C>T; p.R99C; 11:47274795-47274795	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.295C>T; p.R99C; 11:47274795-47274795	stomach	adenocarcinoma	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]