Entrez Gene

Basic Information
Gene ID	4216
Name	MAP3K4
Synonymous	mitogen-activated protein kinase kinase kinase 4;MAP3K4;mitogen-activated protein kinase kinase kinase 4
Definition	MAP three kinase 1\|MAP/ERK kinase kinase 4\|MAPK/ERK kinase kinase 4\|MEK kinase 4\|SSK2/SSK22 MAP kinase kinase kinase, yeast, homolog of\|dJ473J16.1 (mitogen-activated protein kinase kinase kinase 4)\|predicted protein of HQ0412
Position	6q26
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 0.19.

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.2973G>T; p.K991N; 6:161089471-161089471	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.281G>A; p.R94H; 6:161034387-161034387	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2900A>G; p.E967G; 6:161089398-161089398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2900A>G; p.E967G; 6:161089398-161089398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2473G>T; p.D825Y; 6:161086584-161086584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2939A>G; p.Q980R; 6:161089437-161089437	skin	malignant_melanoma	Substitution - Missense
c.2900A>G; p.E967G; 6:161089398-161089398	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2004C>T; p.Y668Y; 6:161073519-161073519	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2458A>G; p.K820E; 6:161086464-161086464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2004C>T; p.Y668Y; 6:161073519-161073519	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.895C>T; p.L299F; 6:161049167-161049167	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.895C>T; p.L299F; 6:161049167-161049167	skin	malignant_melanoma	Substitution - Missense
c.3149T>G; p.V1050G; 6:161092023-161092023	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3524+3A>G; p.?; 6:161097179-161097179	liver	carcinoma	Unknown
c.3524+3A>G; p.?; 6:161097179-161097179	liver	carcinoma	Unknown
c.2725C>T; p.R909*; 6:161087856-161087856	breast	carcinoma	Substitution - Nonsense
c.524_525insA; p.S178fs*9; 6:161048796-161048797	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.524_525insA; p.S178fs*9; 6:161048796-161048797	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.524_525insA; p.S178fs*9; 6:161048796-161048797	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3334G>A; p.E1112K; 6:161093042-161093042	skin	malignant_melanoma	Substitution - Missense
c.2395C>T; p.R799*; 6:161086401-161086401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4077delC; p.C1360fs*9; 6:161107927-161107927	endometrium	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4168G>A; p.E1390K; 6:161108791-161108791	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.4168G>A; p.E1390K; 6:161108791-161108791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3178C>T; p.Q1060*; 6:161092052-161092052	skin	malignant_melanoma	Substitution - Nonsense
c.224C>T; p.T75I; 6:161034330-161034330	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2023G>T; p.E675*; 6:161073538-161073538	large_intestine; colon	adenoma	Substitution - Nonsense
c.2082A>G; p.L694L; 6:161073597-161073597	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.81_82insCCG; p.P36_E37insP; 6:160992012-160992013	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - In frame
c.268C>T; p.R90*; 6:161034374-161034374	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2504C>A; p.S835*; 6:161086615-161086615	breast	carcinoma	Substitution - Nonsense
c.4733T>G; p.L1578R; 6:161115229-161115229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2683G>A; p.V895I; 6:161087814-161087814	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.697C>A; p.L233I; 6:161048969-161048969	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3547G>A; p.A1183T; 6:161098300-161098300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2078A>T; p.D693V; 6:161073593-161073593	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.448C>T; p.L150F; 6:161048720-161048720	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4082T>G; p.I1361S; 6:161107932-161107932	central_nervous_system; brain	glioma	Substitution - Missense
c.4182C>T; p.F1394F; 6:161108805-161108805	skin	malignant_melanoma	Substitution - coding silent
c.4182C>T; p.F1394F; 6:161108805-161108805	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1708-2A>G; p.?; 6:161070606-161070606	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1015A>T; p.T339S; 6:161049287-161049287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3301G>C; p.A1101P; 6:161093009-161093009	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>T; p.G505V; 6:161049786-161049786	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1232G>A; p.G411D; 6:161049504-161049504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166T>C; p.L56L; 6:161034272-161034272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.95_96insGCC; p.P36_E37insP; 6:160992026-160992027	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.249C>T; p.T83T; 6:161034355-161034355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3267C>T; p.P1089P; 6:161092141-161092141	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1153G>T; p.D385Y; 6:161049425-161049425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.755C>T; p.T252M; 6:161049027-161049027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.90G>A; p.P30P; 6:160992021-160992021	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1120C>T; p.L374F; 6:161049392-161049392	skin	malignant_melanoma	Substitution - Missense
c.1547G>T; p.G516V; 6:161049819-161049819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3723A>G; p.E1241E; 6:161101940-161101940	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3399A>G; p.P1133P; 6:161093823-161093823	liver	carcinoma	Substitution - coding silent
c.710C>T; p.S237L; 6:161048982-161048982	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3593C>T; p.A1198V; 6:161098346-161098346	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4578C>T; p.A1526A; 6:161112726-161112726	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3448C>T; p.R1150C; 6:161097100-161097100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4578C>T; p.A1526A; 6:161112726-161112726	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4578C>T; p.A1526A; 6:161112726-161112726	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3448C>T; p.R1150C; 6:161097100-161097100	skin	malignant_melanoma	Substitution - Missense
c.2065G>A; p.A689T; 6:161073580-161073580	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1723G>T; p.D575Y; 6:161070623-161070623	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1315G>T; p.E439*; 6:161049587-161049587	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.298C>T; p.Q100*; 6:161034404-161034404	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2388G>A; p.E796E; 6:161086394-161086394	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1450A>G; p.I484V; 6:161049722-161049722	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1450A>G; p.I484V; 6:161049722-161049722	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4822G>A; p.E1608K; 6:161116865-161116865	breast	carcinoma	Substitution - Missense
c.1450A>G; p.I484V; 6:161049722-161049722	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1882C>T; p.H628Y; 6:161070782-161070782	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3967G>A; p.D1323N; 6:161106624-161106624	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1150A>G; p.K384E; 6:161049422-161049422	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4533T>C; p.P1511P; 6:161112681-161112681	breast	carcinoma	Substitution - coding silent
c.670A>C; p.K224Q; 6:161048942-161048942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2688C>T; p.L896L; 6:161087819-161087819	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1693G>T; p.D565Y; 6:161049965-161049965	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1951-2A>G; p.?; 6:161073464-161073464	oesophagus	carcinoma; adenocarcinoma	Unknown
c.81A>G; p.P27P; 6:160992012-160992012	pancreas	carcinoma	Substitution - coding silent
c.4034G>C; p.R1345T; 6:161106691-161106691	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1374G>T; p.T458T; 6:161049646-161049646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4089C>G; p.V1363V; 6:161107939-161107939	ovary	other; neoplasm	Substitution - coding silent
c.3518G>A; p.G1173E; 6:161097170-161097170	skin	malignant_melanoma	Substitution - Missense
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	breast	carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	breast	carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	breast	carcinoma	Deletion - In frame
c.730A>G; p.R244G; 6:161049002-161049002	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3904C>T; p.R1302*; 6:161106561-161106561	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	breast	carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3566_3568delCTG; p.A1199delA; 6:161098319-161098321	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3999C>G; p.H1333Q; 6:161106656-161106656	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1092A>G; p.I364M; 6:161049364-161049364	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2156C>T; p.S719L; 6:161080939-161080939	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3203G>T; p.S1068I; 6:161092077-161092077	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.868G>C; p.A290P; 6:161049140-161049140	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3467G>A; p.R1156Q; 6:161097119-161097119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2611G>A; p.E871K; 6:161087742-161087742	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1447G>T; p.D483Y; 6:161049719-161049719	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4681G>T; p.G1561*; 6:161115177-161115177	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2002T>C; p.Y668H; 6:161073517-161073517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2002T>C; p.Y668H; 6:161073517-161073517	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3234G>A; p.L1078L; 6:161092108-161092108	skin	malignant_melanoma	Substitution - coding silent
c.1447G>T; p.D483Y; 6:161049719-161049719	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1211A>C; p.N404T; 6:161049483-161049483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.439C>G; p.R147G; 6:161048711-161048711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2227G>A; p.G743R; 6:161081010-161081010	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1420delA; p.I474fs*5; 6:161049692-161049692	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.1571C>T; p.S524F; 6:161049843-161049843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2943G>A; p.P981P; 6:161089441-161089441	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1728C>T; p.P576P; 6:161070628-161070628	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4570C>T; p.R1524C; 6:161112718-161112718	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2783T>C; p.V928A; 6:161087914-161087914	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3345C>A; p.F1115L; 6:161093053-161093053	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3832C>T; p.R1278W; 6:161102755-161102755	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3852T>C; p.S1284S; 6:161102775-161102775	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.525delA; p.K177fs*30; 6:161048797-161048797	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.525delA; p.K177fs*30; 6:161048797-161048797	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2327A>G; p.E776G; 6:161084572-161084572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1018C>G; p.H340D; 6:161049290-161049290	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3626G>T; p.G1209V; 6:161098379-161098379	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3715G>T; p.A1239S; 6:161101932-161101932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2883T>G; p.A961A; 6:161089381-161089381	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1814A>G; p.K605R; 6:161070714-161070714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4173G>T; p.L1391F; 6:161108796-161108796	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3913G>A; p.E1305K; 6:161106570-161106570	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3833G>A; p.R1278Q; 6:161102756-161102756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.974A>G; p.Q325R; 6:161049246-161049246	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3833G>A; p.R1278Q; 6:161102756-161102756	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4547G>A; p.R1516H; 6:161112695-161112695	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3212G>A; p.R1071Q; 6:161092086-161092086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.515G>A; p.G172E; 6:161048787-161048787	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.234G>T; p.E78D; 6:161034340-161034340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1729A>G; p.M577V; 6:161070629-161070629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.471_472insA; p.N160fs*27; 6:161048743-161048744	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3319A>T; p.I1107F; 6:161093027-161093027	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4567G>T; p.G1523W; 6:161112715-161112715	liver	carcinoma	Substitution - Missense
c.1800G>A; p.S600S; 6:161070700-161070700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2441A>G; p.K814R; 6:161086447-161086447	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2441A>G; p.K814R; 6:161086447-161086447	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3661G>C; p.A1221P; 6:161098414-161098414	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4617G>A; p.V1539V; 6:161112765-161112765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4124G>A; p.R1375Q; 6:161108747-161108747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1696C>T; p.R566C; 6:161049968-161049968	skin	malignant_melanoma	Substitution - Missense
c.1356_1357delGG; p.E453fs*4; 6:161049628-161049629	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4405A>G; p.I1469V; 6:161111844-161111844	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2901G>T; p.E967D; 6:161089399-161089399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.387delA; p.T131fs*37; 6:161048659-161048659	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4405A>G; p.I1469V; 6:161111844-161111844	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4048G>T; p.G1350*; 6:161106705-161106705	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3199A>G; p.I1067V; 6:161092073-161092073	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3446C>T; p.P1149L; 6:161097098-161097098	skin	malignant_melanoma	Substitution - Missense
c.4090G>A; p.D1364N; 6:161107940-161107940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2291G>C; p.S764T; 6:161084536-161084536	skin	malignant_melanoma	Substitution - Missense
c.4385G>A; p.R1462H; 6:161109903-161109903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4385G>A; p.R1462H; 6:161109903-161109903	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2203G>A; p.E735K; 6:161080986-161080986	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2389A>T; p.I797F; 6:161086395-161086395	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4400C>T; p.A1467V; 6:161111839-161111839	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4772C>A; p.T1591N; 6:161115268-161115268	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1725T>C; p.D575D; 6:161070625-161070625	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2241C>T; p.A747A; 6:161081024-161081024	thyroid	other; neoplasm	Substitution - coding silent
c.1725T>C; p.D575D; 6:161070625-161070625	large_intestine; rectum	NS	Substitution - coding silent
c.280C>A; p.R94S; 6:161034386-161034386	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2388_2389GA>AT; p.I797F; 6:161086394-161086395	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1690A>T; p.N564Y; 6:161049962-161049962	pancreas	carcinoma	Substitution - Missense
c.1623G>T; p.K541N; 6:161049895-161049895	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4636C>T; p.H1546Y; 6:161115132-161115132	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.906A>G; p.K302K; 6:161049178-161049178	skin	malignant_melanoma	Substitution - coding silent
c.863G>A; p.R288H; 6:161049135-161049135	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4443T>A; p.D1481E; 6:161111882-161111882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4443T>A; p.D1481E; 6:161111882-161111882	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2945T>C; p.V982A; 6:161089443-161089443	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3043G>A; p.E1015K; 6:161091448-161091448	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3010G>A; p.A1004T; 6:161091415-161091415	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3010G>A; p.A1004T; 6:161091415-161091415	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.710C>A; p.S237*; 6:161048982-161048982	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.3276G>A; p.A1092A; 6:161092984-161092984	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1959A>T; p.R653S; 6:161073474-161073474	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1637T>G; p.L546R; 6:161049909-161049909	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2005T>C; p.Y669H; 6:161073520-161073520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1724A>G; p.D575G; 6:161070624-161070624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4237G>C; p.E1413Q; 6:161109755-161109755	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4237G>C; p.E1413Q; 6:161109755-161109755	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3548C>T; p.A1183V; 6:161098301-161098301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4575G>A; p.A1525A; 6:161112723-161112723	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.840G>T; p.Q280H; 6:161049112-161049112	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4093A>G; p.T1365A; 6:161107943-161107943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4096G>A; p.G1366R; 6:161107946-161107946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>A; p.E262K; 6:161049056-161049056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>A; p.E262K; 6:161049056-161049056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.784G>A; p.E262K; 6:161049056-161049056	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4096G>A; p.G1366R; 6:161107946-161107946	skin	malignant_melanoma	Substitution - Missense
c.4096G>A; p.G1366R; 6:161107946-161107946	skin	malignant_melanoma	Substitution - Missense
c.784G>A; p.E262K; 6:161049056-161049056	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4384C>T; p.R1462C; 6:161109902-161109902	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.548A>C; p.D183A; 6:161048820-161048820	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4266C>T; p.C1422C; 6:161109784-161109784	pancreas	carcinoma	Substitution - coding silent
c.2472+1G>A; p.?; 6:161086479-161086479	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2566C>T; p.P856S; 6:161087697-161087697	skin	malignant_melanoma	Substitution - Missense
c.711A>T; p.S237S; 6:161048983-161048983	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1084G>T; p.E362*; 6:161049356-161049356	breast	carcinoma	Substitution - Nonsense
c.1656T>C; p.G552G; 6:161049928-161049928	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.472delA; p.N160fs*8; 6:161048744-161048744	skin	malignant_melanoma	Deletion - Frameshift
c.472delA; p.N160fs*8; 6:161048744-161048744	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.664C>T; p.R222C; 6:161048936-161048936	skin	malignant_melanoma	Substitution - Missense
c.3222G>T; p.M1074I; 6:161092096-161092096	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3809C>T; p.S1270F; 6:161102732-161102732	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.472delA; p.N160fs*8; 6:161048744-161048744	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.417C>A; p.S139R; 6:161048689-161048689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1415C>T; p.P472L; 6:161049687-161049687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472delA; p.N160fs*8; 6:161048744-161048744	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.472delA; p.N160fs*8; 6:161048744-161048744	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.472delA; p.N160fs*8; 6:161048744-161048744	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.664C>T; p.R222C; 6:161048936-161048936	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.200A>T; p.D67V; 6:161034306-161034306	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.159G>T; p.E53D; 6:161034265-161034265	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1591G>C; p.D531H; 6:161049863-161049863	central_nervous_system; brain	glioma	Substitution - Missense
c.4008G>C; p.L1336F; 6:161106665-161106665	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3684C>T; p.S1228S; 6:161101901-161101901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4223T>A; p.V1408E; 6:161108846-161108846	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4579G>A; p.D1527N; 6:161112727-161112727	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4576G>A; p.A1526T; 6:161112724-161112724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4437G>C; p.L1479L; 6:161111876-161111876	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1827A>G; p.L609L; 6:161070727-161070727	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.714C>G; p.V238V; 6:161048986-161048986	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4098G>T; p.G1366G; 6:161107948-161107948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4097G>A; p.G1366E; 6:161107947-161107947	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.1837G>T; p.E613*; 6:161070737-161070737	ovary	other; neoplasm	Substitution - Nonsense
c.3311C>G; p.P1104R; 6:161093019-161093019	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4726G>A; p.D1576N; 6:161115222-161115222	skin	malignant_melanoma	Substitution - Missense
c.2218A>G; p.I740V; 6:161081001-161081001	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1373C>T; p.T458M; 6:161049645-161049645	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4267G>A; p.D1423N; 6:161109785-161109785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1447G>A; p.D483N; 6:161049719-161049719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1726C>T; p.P576S; 6:161070626-161070626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1447G>A; p.D483N; 6:161049719-161049719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3752C>A; p.S1251*; 6:161101969-161101969	breast	carcinoma	Substitution - Nonsense
c.1980G>A; p.K660K; 6:161073495-161073495	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1409delG; p.V471fs*8; 6:161049681-161049681	breast	carcinoma	Deletion - Frameshift
c.2719G>T; p.G907C; 6:161087850-161087850	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4239A>G; p.E1413E; 6:161109757-161109757	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.319C>T; p.P107S; 6:161034425-161034425	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.319C>T; p.P107S; 6:161034425-161034425	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.365A>T; p.Q122L; 6:161048637-161048637	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4239A>G; p.E1413E; 6:161109757-161109757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4514C>T; p.T1505I; 6:161111953-161111953	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2858C>T; p.A953V; 6:161089356-161089356	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3939G>C; p.R1313S; 6:161106596-161106596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4761G>C; p.K1587N; 6:161115257-161115257	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4273G>A; p.G1425R; 6:161109791-161109791	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4299G>T; p.L1433L; 6:161109817-161109817	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2196C>T; p.F732F; 6:161080979-161080979	breast	carcinoma	Substitution - coding silent
c.1179C>T; p.L393L; 6:161049451-161049451	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3758C>A; p.P1253H; 6:161101975-161101975	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.689G>A; p.R230Q; 6:161048961-161048961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3022G>A; p.V1008M; 6:161091427-161091427	NS	malignant_melanoma	Substitution - Missense
c.3596C>T; p.A1199V; 6:161098349-161098349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3596C>T; p.A1199V; 6:161098349-161098349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3596C>T; p.A1199V; 6:161098349-161098349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3596C>T; p.A1199V; 6:161098349-161098349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3596C>T; p.A1199V; 6:161098349-161098349	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3596C>T; p.A1199V; 6:161098349-161098349	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2683G>T; p.V895L; 6:161087814-161087814	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4236+7C>T; p.?; 6:161108866-161108866	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.472A>G; p.K158E; 6:161048744-161048744	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4221T>A; p.G1407G; 6:161108844-161108844	breast	carcinoma	Substitution - coding silent
c.1251G>T; p.K417N; 6:161049523-161049523	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1458G>A; p.S486S; 6:161049730-161049730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4111A>G; p.M1371V; 6:161107961-161107961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3710C>T; p.S1237F; 6:161101927-161101927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4076C>G; p.T1359S; 6:161107926-161107926	breast	carcinoma	Substitution - Missense
c.4214A>G; p.Y1405C; 6:161108837-161108837	oesophagus	carcinoma	Substitution - Missense
c.4424G>T; p.G1475V; 6:161111863-161111863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4622G>C; p.G1541A; 6:161112770-161112770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1340C>T; p.T447I; 6:161049612-161049612	breast	carcinoma	Substitution - Missense
c.1521A>G; p.G507G; 6:161049793-161049793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1471T>G; p.S491A; 6:161049743-161049743	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2504C>T; p.S835L; 6:161086615-161086615	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.948T>C; p.G316G; 6:161049220-161049220	pancreas	carcinoma	Substitution - coding silent
c.3275C>T; p.A1092V; 6:161092983-161092983	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2892G>A; p.Q964Q; 6:161089390-161089390	breast	carcinoma	Substitution - coding silent
c.260G>A; p.S87N; 6:161034366-161034366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4004G>A; p.G1335D; 6:161106661-161106661	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2297T>C; p.L766S; 6:161084542-161084542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.923T>A; p.F308Y; 6:161049195-161049195	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.824G>A; p.R275Q; 6:161049096-161049096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.824G>A; p.R275Q; 6:161049096-161049096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>T; p.D181Y; 6:161048813-161048813	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4720_4721GG>AA; p.G1574K; 6:161115216-161115217	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.567C>T; p.L189L; 6:161048839-161048839	breast	carcinoma	Substitution - coding silent
c.2682C>T; p.D894D; 6:161087813-161087813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3245A>G; p.E1082G; 6:161092119-161092119	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2726G>A; p.R909Q; 6:161087857-161087857	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2901G>A; p.E967E; 6:161089399-161089399	skin	malignant_melanoma	Substitution - coding silent
c.2901G>A; p.E967E; 6:161089399-161089399	skin	malignant_melanoma	Substitution - coding silent
c.3972G>A; p.T1324T; 6:161106629-161106629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3313G>A; p.A1105T; 6:161093021-161093021	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4324C>T; p.L1442L; 6:161109842-161109842	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1446C>T; p.F482F; 6:161049718-161049718	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1288C>A; p.P430T; 6:161049560-161049560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4237G>T; p.E1413*; 6:161109755-161109755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1848C>G; p.F616L; 6:161070748-161070748	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1149A>C; p.A383A; 6:161049421-161049421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3423C>T; p.Y1141Y; 6:161093847-161093847	skin	malignant_melanoma	Substitution - coding silent
c.3423C>T; p.Y1141Y; 6:161093847-161093847	skin	malignant_melanoma	Substitution - coding silent
c.3695A>G; p.N1232S; 6:161101912-161101912	liver	carcinoma	Substitution - Missense
c.83C>A; p.P28Q; 6:160992014-160992014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.898A>G; p.T300A; 6:161049170-161049170	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3695A>G; p.N1232S; 6:161101912-161101912	liver	carcinoma	Substitution - Missense
c.847T>G; p.F283V; 6:161049119-161049119	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2504C>G; p.S835*; 6:161086615-161086615	breast	carcinoma	Substitution - Nonsense
c.96A>G; p.P32P; 6:160992027-160992027	liver	carcinoma	Substitution - coding silent
c.96A>G; p.P32P; 6:160992027-160992027	liver	carcinoma	Substitution - coding silent
c.1261G>C; p.D421H; 6:161049533-161049533	urinary_tract; bladder	carcinoma	Substitution - Missense
c.925G>A; p.A309T; 6:161049197-161049197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3568G>C; p.A1190P; 6:161098321-161098321	liver	carcinoma; hepatocellular_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]