Entrez Gene

Basic Information
Gene ID	22882
Name	ZHX2
Synonymous	zinc fingers and homeoboxes 2;ZHX2;zinc fingers and homeoboxes 2
Definition	AFP regulator 1\|alpha-fetoprotein regulator 1\|regulator of AFP\|transcription factor ZHX2\|zinc finger and homeodomain protein 2\|zinc fingers and homeoboxes protein 2\|zinc-fingers and homeoboxes 2
Position	8q24.13
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.194C>T; p.S65F; 8:122951704-122951704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1510G>T; p.E504*; 8:122953020-122953020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1402G>A; p.E468K; 8:122952912-122952912	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2434A>T; p.S812C; 8:122953944-122953944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1305delC; p.P437fs*15; 8:122952815-122952815	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1598T>G; p.F533C; 8:122953108-122953108	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2408C>T; p.A803V; 8:122953918-122953918	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.185A>G; p.E62G; 8:122951695-122951695	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2059A>G; p.T687A; 8:122953569-122953569	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2312G>A; p.R771Q; 8:122953822-122953822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1092G>A; p.T364T; 8:122952602-122952602	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.770A>G; p.K257R; 8:122952280-122952280	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.828G>A; p.T276T; 8:122952338-122952338	skin	malignant_melanoma	Substitution - coding silent
c.2363C>T; p.S788L; 8:122953873-122953873	skin	malignant_melanoma	Substitution - Missense
c.828G>A; p.T276T; 8:122952338-122952338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.235G>C; p.E79Q; 8:122951745-122951745	urinary_tract; bladder	carcinoma	Substitution - Missense
c.520G>A; p.D174N; 8:122952030-122952030	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.210G>T; p.Q70H; 8:122951720-122951720	thyroid	other; neoplasm	Substitution - Missense
c.988C>T; p.R330W; 8:122952498-122952498	skin	malignant_melanoma	Substitution - Missense
c.1335G>T; p.K445N; 8:122952845-122952845	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.561G>T; p.M187I; 8:122952071-122952071	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.101G>A; p.G34E; 8:122951611-122951611	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2121C>T; p.A707A; 8:122953631-122953631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2390C>T; p.T797M; 8:122953900-122953900	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2368G>A; p.V790I; 8:122953878-122953878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2368G>A; p.V790I; 8:122953878-122953878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.940C>T; p.R314C; 8:122952450-122952450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1593G>C; p.Q531H; 8:122953103-122953103	ovary	other; neoplasm	Substitution - Missense
c.1665C>T; p.T555T; 8:122953175-122953175	skin	malignant_melanoma	Substitution - coding silent
c.1817C>T; p.A606V; 8:122953327-122953327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2335G>A; p.G779S; 8:122953845-122953845	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2335G>A; p.G779S; 8:122953845-122953845	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.558C>T; p.I186I; 8:122952068-122952068	breast	carcinoma	Substitution - coding silent
c.2335G>A; p.G779S; 8:122953845-122953845	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.457G>A; p.E153K; 8:122951967-122951967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.554C>T; p.P185L; 8:122952064-122952064	skin	malignant_melanoma	Substitution - Missense
c.427T>C; p.L143L; 8:122951937-122951937	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.588C>T; p.A196A; 8:122952098-122952098	skin	malignant_melanoma	Substitution - coding silent
c.1240G>T; p.A414S; 8:122952750-122952750	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>A; p.E50K; 8:122951658-122951658	breast	carcinoma	Substitution - Missense
c.1240G>T; p.A414S; 8:122952750-122952750	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2380G>T; p.V794L; 8:122953890-122953890	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2057G>T; p.G686V; 8:122953567-122953567	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2057G>T; p.G686V; 8:122953567-122953567	urinary_tract; bladder	carcinoma	Substitution - Missense
c.718G>A; p.G240R; 8:122952228-122952228	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1655C>A; p.S552Y; 8:122953165-122953165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1655C>A; p.S552Y; 8:122953165-122953165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.599C>G; p.P200R; 8:122952109-122952109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.114A>G; p.P38P; 8:122951624-122951624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1100C>T; p.P367L; 8:122952610-122952610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2183C>T; p.P728L; 8:122953693-122953693	skin	malignant_melanoma	Substitution - Missense
c.1874C>A; p.S625Y; 8:122953384-122953384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1874C>A; p.S625Y; 8:122953384-122953384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1331G>A; p.R444H; 8:122952841-122952841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1131G>T; p.V377V; 8:122952641-122952641	kidney	other; neoplasm	Substitution - coding silent
c.680C>T; p.S227L; 8:122952190-122952190	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.406G>A; p.E136K; 8:122951916-122951916	skin	malignant_melanoma	Substitution - Missense
c.690C>T; p.G230G; 8:122952200-122952200	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.692G>T; p.G231V; 8:122952202-122952202	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.802A>T; p.N268Y; 8:122952312-122952312	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.802A>T; p.N268Y; 8:122952312-122952312	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.690C>T; p.G230G; 8:122952200-122952200	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1504A>C; p.T502P; 8:122953014-122953014	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1682G>A; p.R561Q; 8:122953192-122953192	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1682G>A; p.R561Q; 8:122953192-122953192	ovary	other; neoplasm	Substitution - Missense
c.487G>A; p.V163M; 8:122951997-122951997	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.385A>G; p.N129D; 8:122951895-122951895	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.40C>T; p.R14W; 8:122951550-122951550	skin	malignant_melanoma	Substitution - Missense
c.1965C>T; p.P655P; 8:122953475-122953475	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1196G>T; p.G399V; 8:122952706-122952706	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1017G>A; p.Q339Q; 8:122952527-122952527	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1017G>A; p.Q339Q; 8:122952527-122952527	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2470G>A; p.E824K; 8:122953980-122953980	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2020C>T; p.R674C; 8:122953530-122953530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2061C>T; p.T687T; 8:122953571-122953571	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2020C>T; p.R674C; 8:122953530-122953530	breast	carcinoma	Substitution - Missense
c.2061C>T; p.T687T; 8:122953571-122953571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.469G>A; p.E157K; 8:122951979-122951979	skin	malignant_melanoma	Substitution - Missense
c.469G>A; p.E157K; 8:122951979-122951979	skin	malignant_melanoma	Substitution - Missense
c.539C>T; p.S180L; 8:122952049-122952049	skin	malignant_melanoma	Substitution - Missense
c.1421A>C; p.E474A; 8:122952931-122952931	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2496A>G; p.A832A; 8:122954006-122954006	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.432T>A; p.I144I; 8:122951942-122951942	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2400G>T; p.E800D; 8:122953910-122953910	breast	carcinoma	Substitution - Missense
c.298C>A; p.Q100K; 8:122951808-122951808	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.161C>G; p.S54C; 8:122951671-122951671	breast	carcinoma	Substitution - Missense
c.854C>T; p.P285L; 8:122952364-122952364	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.161C>G; p.S54C; 8:122951671-122951671	breast	carcinoma	Substitution - Missense
c.124G>A; p.V42M; 8:122951634-122951634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.839C>A; p.S280Y; 8:122952349-122952349	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1189G>A; p.V397M; 8:122952699-122952699	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1542G>A; p.A514A; 8:122953052-122953052	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1542G>A; p.A514A; 8:122953052-122953052	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.562A>T; p.K188*; 8:122952072-122952072	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1296G>A; p.K432K; 8:122952806-122952806	skin	malignant_melanoma	Substitution - coding silent
c.81A>G; p.V27V; 8:122951591-122951591	skin	malignant_melanoma	Substitution - coding silent
c.2203delA; p.K736fs*11; 8:122953713-122953713	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1257G>T; p.K419N; 8:122952767-122952767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.989G>A; p.R330Q; 8:122952499-122952499	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1258C>T; p.R420C; 8:122952768-122952768	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1721A>G; p.D574G; 8:122953231-122953231	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1020A>C; p.S340S; 8:122952530-122952530	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1495G>A; p.V499I; 8:122953005-122953005	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.96G>A; p.E32E; 8:122951606-122951606	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1495G>A; p.V499I; 8:122953005-122953005	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2340G>C; p.Q780H; 8:122953850-122953850	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1985C>T; p.A662V; 8:122953495-122953495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1395C>T; p.D465D; 8:122952905-122952905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1572G>A; p.A524A; 8:122953082-122953082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1802G>C; p.G601A; 8:122953312-122953312	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1714G>A; p.E572K; 8:122953224-122953224	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1420G>T; p.E474*; 8:122952930-122952930	breast	carcinoma	Substitution - Nonsense
c.1587C>T; p.A529A; 8:122953097-122953097	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2143delC; p.M716fs*31; 8:122953653-122953653	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.348C>A; p.N116K; 8:122951858-122951858	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.283G>A; p.E95K; 8:122951793-122951793	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1366G>T; p.A456S; 8:122952876-122952876	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1521C>T; p.A507A; 8:122953031-122953031	skin	malignant_melanoma	Substitution - coding silent
c.637G>T; p.E213*; 8:122952147-122952147	ovary	other; neoplasm	Substitution - Nonsense
c.1681C>T; p.R561W; 8:122953191-122953191	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2481C>T; p.S827S; 8:122953991-122953991	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.257C>T; p.S86F; 8:122951767-122951767	skin	malignant_melanoma	Substitution - Missense
c.579A>T; p.K193N; 8:122952089-122952089	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1248C>T; p.P416P; 8:122952758-122952758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.861G>A; p.P287P; 8:122952371-122952371	skin	malignant_melanoma	Substitution - coding silent
c.1419C>T; p.I473I; 8:122952929-122952929	skin	malignant_melanoma	Substitution - coding silent
c.274G>C; p.E92Q; 8:122951784-122951784	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.D127N; 8:122951889-122951889	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.973G>C; p.E325Q; 8:122952483-122952483	urinary_tract; bladder	carcinoma	Substitution - Missense
c.417C>G; p.F139L; 8:122951927-122951927	breast	carcinoma	Substitution - Missense
c.1854C>T; p.S618S; 8:122953364-122953364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2417A>G; p.D806G; 8:122953927-122953927	liver	carcinoma	Substitution - Missense
c.2329C>T; p.R777W; 8:122953839-122953839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.582G>A; p.A194A; 8:122952092-122952092	skin	malignant_melanoma	Substitution - coding silent
c.1904A>G; p.K635R; 8:122953414-122953414	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.772G>A; p.V258I; 8:122952282-122952282	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>T; p.I179I; 8:122952047-122952047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.338C>T; p.A113V; 8:122951848-122951848	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.R493W; 8:122952987-122952987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1555G>A; p.G519S; 8:122953065-122953065	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1937C>T; p.T646M; 8:122953447-122953447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.120T>C; p.P40P; 8:122951630-122951630	skin	malignant_melanoma	Substitution - coding silent
c.2116G>T; p.D706Y; 8:122953626-122953626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2275T>G; p.C759G; 8:122953785-122953785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1331G>T; p.R444L; 8:122952841-122952841	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2173G>A; p.D725N; 8:122953683-122953683	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2367C>T; p.S789S; 8:122953877-122953877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.220C>G; p.L74V; 8:122951730-122951730	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.650G>T; p.R217L; 8:122952160-122952160	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.540G>T; p.S180S; 8:122952050-122952050	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1804C>T; p.Q602*; 8:122953314-122953314	skin	malignant_melanoma	Substitution - Nonsense
c.1461C>T; p.F487F; 8:122952971-122952971	skin	malignant_melanoma	Substitution - coding silent
c.724G>A; p.V242I; 8:122952234-122952234	pancreas	carcinoma	Substitution - Missense
c.724G>A; p.V242I; 8:122952234-122952234	oesophagus	carcinoma	Substitution - Missense
c.2491C>T; p.P831S; 8:122954001-122954001	skin	malignant_melanoma	Substitution - Missense
c.1294A>G; p.K432E; 8:122952804-122952804	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1259G>A; p.R420H; 8:122952769-122952769	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.161C>T; p.S54F; 8:122951671-122951671	breast	carcinoma	Substitution - Missense
c.978G>A; p.V326V; 8:122952488-122952488	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1611A>G; p.T537T; 8:122953121-122953121	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.664A>G; p.T222A; 8:122952174-122952174	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2424A>G; p.S808S; 8:122953934-122953934	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1176C>G; p.P392P; 8:122952686-122952686	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.590A>G; p.K197R; 8:122952100-122952100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.366C>T; p.Y122Y; 8:122951876-122951876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.653_654insG; p.V219fs*6; 8:122952163-122952164	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.366C>T; p.Y122Y; 8:122951876-122951876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.639A>G; p.E213E; 8:122952149-122952149	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.681G>A; p.S227S; 8:122952191-122952191	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1988_1989CC>TT; p.A663V; 8:122953498-122953499	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.681G>A; p.S227S; 8:122952191-122952191	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.281C>T; p.T94M; 8:122951791-122951791	pancreas	carcinoma	Substitution - Missense
c.1249G>A; p.E417K; 8:122952759-122952759	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2347G>A; p.D783N; 8:122953857-122953857	skin	malignant_melanoma	Substitution - Missense
c.1536C>T; p.A512A; 8:122953046-122953046	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.645C>T; p.T215T; 8:122952155-122952155	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.266A>T; p.N89I; 8:122951776-122951776	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2049G>A; p.L683L; 8:122953559-122953559	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2049G>A; p.L683L; 8:122953559-122953559	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.827C>T; p.T276M; 8:122952337-122952337	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1446G>T; p.E482D; 8:122952956-122952956	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.907G>A; p.E303K; 8:122952417-122952417	breast	carcinoma	Substitution - Missense
c.1975G>A; p.D659N; 8:122953485-122953485	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1975G>A; p.D659N; 8:122953485-122953485	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1750C>T; p.R584*; 8:122953260-122953260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1554C>T; p.H518H; 8:122953064-122953064	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1966C>T; p.Q656*; 8:122953476-122953476	skin	malignant_melanoma	Substitution - Nonsense
c.984G>T; p.E328D; 8:122952494-122952494	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1443C>T; p.S481S; 8:122952953-122952953	thyroid	other; neoplasm	Substitution - coding silent
c.1559G>A; p.R520H; 8:122953069-122953069	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1443C>T; p.S481S; 8:122952953-122952953	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.517G>C; p.G173R; 8:122952027-122952027	oesophagus	carcinoma	Substitution - Missense
c.2208G>T; p.K736N; 8:122953718-122953718	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1541C>T; p.A514V; 8:122953051-122953051	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.866A>C; p.Q289P; 8:122952376-122952376	breast	carcinoma	Substitution - Missense
c.2050delA; p.T685fs*4; 8:122953560-122953560	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1541C>T; p.A514V; 8:122953051-122953051	urinary_tract; bladder	carcinoma	Substitution - Missense
c.996G>A; p.K332K; 8:122952506-122952506	breast	carcinoma	Substitution - coding silent
c.213_214insA; p.L74fs*6; 8:122951723-122951724	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1044G>A; p.L348L; 8:122952554-122952554	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1227G>C; p.L409F; 8:122952737-122952737	urinary_tract; bladder	carcinoma	Substitution - Missense
c.202G>A; p.E68K; 8:122951712-122951712	skin	malignant_melanoma	Substitution - Missense
c.1087C>T; p.Q363*; 8:122952597-122952597	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.2167delG; p.G724fs*23; 8:122953677-122953677	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1393G>T; p.D465Y; 8:122952903-122952903	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.610G>A; p.E204K; 8:122952120-122952120	skin	malignant_melanoma	Substitution - Missense
c.851T>G; p.F284C; 8:122952361-122952361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.990G>A; p.R330R; 8:122952500-122952500	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.261G>A; p.T87T; 8:122951771-122951771	thyroid	other; neoplasm	Substitution - coding silent
c.1898T>C; p.I633T; 8:122953408-122953408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1413G>T; p.R471R; 8:122952923-122952923	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.611A>T; p.E204V; 8:122952121-122952121	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2186A>C; p.Q729P; 8:122953696-122953696	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1668A>C; p.Q556H; 8:122953178-122953178	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1920T>G; p.V640V; 8:122953430-122953430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1519G>A; p.A507T; 8:122953029-122953029	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2064G>A; p.V688V; 8:122953574-122953574	breast	carcinoma	Substitution - coding silent
c.2511C>A; p.A837A; 8:122954021-122954021	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.957C>T; p.I319I; 8:122952467-122952467	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.950A>G; p.H317R; 8:122952460-122952460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.866A>T; p.Q289L; 8:122952376-122952376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1203C>T; p.T401T; 8:122952713-122952713	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.977T>G; p.V326G; 8:122952487-122952487	lung	carcinoma; 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]