Entrez Gene

Basic Information
Gene ID	57531
Name	HACE1
Synonymous	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1;HACE1;HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
Definition	E3 ubiquitin-protein ligase HACE1
Position	6q16.3
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 0.09.

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.2256C>A; p.A752A; 6:104750428-104750428	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1424G>A; p.R475H; 6:104784471-104784471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2580C>T; p.I860I; 6:104730350-104730350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.385A>C; p.N129H; 6:104843240-104843240	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.994C>T; p.R332*; 6:104791584-104791584	breast	carcinoma	Substitution - Nonsense
c.2673C>G; p.L891L; 6:104729719-104729719	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2164C>T; p.P722S; 6:104771240-104771240	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.518A>T; p.Q173L; 6:104833058-104833058	liver	carcinoma	Substitution - Missense
c.1678+2T>C; p.?; 6:104777204-104777204	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.518A>T; p.Q173L; 6:104833058-104833058	liver	carcinoma	Substitution - Missense
c.2547C>T; p.I849I; 6:104730383-104730383	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1483C>T; p.P495S; 6:104784169-104784169	skin	malignant_melanoma	Substitution - Missense
c.1868C>G; p.T623R; 6:104772071-104772071	liver	carcinoma	Substitution - Missense
c.2547C>T; p.I849I; 6:104730383-104730383	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2306C>T; p.P769L; 6:104750378-104750378	oesophagus	carcinoma	Substitution - Missense
c.1836T>G; p.D612E; 6:104776769-104776769	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.751T>C; p.Y251H; 6:104796720-104796720	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2632A>G; p.N878D; 6:104729760-104729760	liver	carcinoma	Substitution - Missense
c.988G>A; p.V330I; 6:104791590-104791590	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2632A>G; p.N878D; 6:104729760-104729760	liver	carcinoma	Substitution - Missense
c.212T>C; p.I71T; 6:104850916-104850916	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1075C>T; p.P359S; 6:104785319-104785319	pancreas	carcinoma	Substitution - Missense
c.1075C>T; p.P359S; 6:104785319-104785319	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1793G>A; p.R598H; 6:104776812-104776812	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2021C>A; p.P674H; 6:104771383-104771383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.188G>A; p.R63H; 6:104850940-104850940	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.757C>T; p.P253S; 6:104796714-104796714	skin	malignant_melanoma	Substitution - Missense
c.858C>T; p.S286S; 6:104795644-104795644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2271C>G; p.I757M; 6:104750413-104750413	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1075-4T>C; p.?; 6:104785323-104785323	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2282delT; p.L761fs*33; 6:104750402-104750402	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2627+2delT; p.?; 6:104730301-104730301	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.1049A>C; p.K350T; 6:104791529-104791529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.107C>T; p.P36L; 6:104852341-104852341	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.330G>T; p.Q110H; 6:104843295-104843295	breast	carcinoma	Substitution - Missense
c.164T>A; p.F55Y; 6:104850964-104850964	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1238C>T; p.P413L; 6:104785156-104785156	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.576G>T; p.R192S; 6:104811352-104811352	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1104T>C; p.D368D; 6:104785290-104785290	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2058A>G; p.E686E; 6:104771346-104771346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2478G>A; p.E826E; 6:104744195-104744195	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2283A>C; p.L761F; 6:104750401-104750401	kidney	other; neoplasm	Substitution - Missense
c.787A>G; p.T263A; 6:104796684-104796684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.230C>T; p.S77L; 6:104849238-104849238	skin	malignant_melanoma	Substitution - Missense
c.2344-1G>T; p.?; 6:104744611-104744611	oesophagus	carcinoma	Unknown
c.2344-1G>T; p.?; 6:104744611-104744611	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1054C>T; p.P352S; 6:104791524-104791524	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1748C>T; p.A583V; 6:104777041-104777041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2069A>T; p.N690I; 6:104771335-104771335	breast	carcinoma	Substitution - Missense
c.152C>G; p.S51*; 6:104850976-104850976	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2377G>T; p.V793L; 6:104744577-104744577	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1238C>A; p.P413H; 6:104785156-104785156	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.485C>T; p.A162V; 6:104833091-104833091	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.485C>T; p.A162V; 6:104833091-104833091	skin	malignant_melanoma	Substitution - Missense
c.958C>A; p.L320I; 6:104791620-104791620	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1A>G; p.M1V; 6:104859642-104859642	lung	carcinoma	Substitution - Missense
c.1951G>A; p.A651T; 6:104771988-104771988	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.755A>G; p.H252R; 6:104796716-104796716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2213C>T; p.A738V; 6:104750471-104750471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2213C>T; p.A738V; 6:104750471-104750471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2213C>T; p.A738V; 6:104750471-104750471	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2244A>G; p.R748R; 6:104750440-104750440	skin	malignant_melanoma	Substitution - coding silent
c.2242C>T; p.R748*; 6:104750442-104750442	skin	malignant_melanoma	Substitution - Nonsense
c.2448C>A; p.F816L; 6:104744225-104744225	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>T; p.P469L; 6:104784988-104784988	central_nervous_system; brain	glioma	Substitution - Missense
c.2618C>T; p.S873L; 6:104730312-104730312	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.887C>T; p.A296V; 6:104795615-104795615	skin	malignant_melanoma	Substitution - Missense
c.428G>A; p.R143Q; 6:104833148-104833148	pancreas	carcinoma	Substitution - Missense
c.333G>T; p.K111N; 6:104843292-104843292	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1963A>T; p.R655W; 6:104771976-104771976	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1327G>T; p.D443Y; 6:104785067-104785067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1031T>C; p.M344T; 6:104791547-104791547	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1888A>G; p.N630D; 6:104772051-104772051	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2513G>A; p.S838N; 6:104744160-104744160	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1589G>A; p.W530*; 6:104777295-104777295	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1870A>C; p.T624P; 6:104772069-104772069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214G>A; p.A72T; 6:104850914-104850914	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1597G>A; p.E533K; 6:104777287-104777287	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1165A>G; p.T389A; 6:104785229-104785229	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.995G>A; p.R332Q; 6:104791583-104791583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995G>A; p.R332Q; 6:104791583-104791583	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.995G>A; p.R332Q; 6:104791583-104791583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2717A>G; p.Y906C; 6:104729675-104729675	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2581G>A; p.A861T; 6:104730349-104730349	liver	carcinoma	Substitution - Missense
c.2581G>A; p.A861T; 6:104730349-104730349	liver	carcinoma	Substitution - Missense
c.1994C>T; p.S665F; 6:104771945-104771945	skin	malignant_melanoma	Substitution - Missense
c.2507C>T; p.T836M; 6:104744166-104744166	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1150G>A; p.D384N; 6:104785244-104785244	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2221G>T; p.V741F; 6:104750463-104750463	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1924C>T; p.R642W; 6:104772015-104772015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.821G>T; p.R274L; 6:104795681-104795681	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2397T>A; p.N799K; 6:104744557-104744557	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1924C>T; p.R642W; 6:104772015-104772015	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1128A>T; p.T376T; 6:104785266-104785266	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2286G>T; p.Q762H; 6:104750398-104750398	thyroid	carcinoma	Substitution - Missense
c.1832C>G; p.P611R; 6:104776773-104776773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.236A>T; p.E79V; 6:104849232-104849232	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1351C>T; p.R451W; 6:104785043-104785043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2444G>T; p.W815L; 6:104744229-104744229	liver	carcinoma	Substitution - Missense
c.1684A>C; p.I562L; 6:104777105-104777105	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2444G>T; p.W815L; 6:104744229-104744229	liver	carcinoma	Substitution - Missense
c.2292T>C; p.F764F; 6:104750392-104750392	prostate	adenoma	Substitution - coding silent
c.1016G>T; p.S339I; 6:104791562-104791562	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.823C>A; p.Q275K; 6:104795679-104795679	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2292T>C; p.F764F; 6:104750392-104750392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1569T>G; p.P523P; 6:104777315-104777315	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1478G>T; p.R493I; 6:104784417-104784417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1531T>G; p.L511V; 6:104784121-104784121	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.523G>A; p.G175S; 6:104833053-104833053	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2221G>C; p.V741L; 6:104750463-104750463	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2344-4C>G; p.?; 6:104744614-104744614	liver	carcinoma	Unknown
c.2344-4C>G; p.?; 6:104744614-104744614	liver	carcinoma	Unknown
c.2344-4C>G; p.?; 6:104744614-104744614	liver	carcinoma	Unknown
c.816+4T>A; p.?; 6:104796651-104796651	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2344-4C>G; p.?; 6:104744614-104744614	liver	carcinoma	Unknown
c.293G>A; p.G98D; 6:104849175-104849175	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2493C>T; p.L831L; 6:104744180-104744180	skin	malignant_melanoma	Substitution - coding silent
c.1673A>G; p.H558R; 6:104777211-104777211	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.790delC; p.Q264fs*26; 6:104796681-104796681	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2443-5_2443-3delGTT; p.?; 6:104744233-104744235	pancreas	carcinoma; adenocarcinoma	Unknown
c.2443-5_2443-3delGTT; p.?; 6:104744233-104744235	stomach	adenocarcinoma	Unknown
c.1691G>C; p.R564T; 6:104777098-104777098	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1915A>T; p.N639Y; 6:104772024-104772024	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2309C>T; p.P770L; 6:104750375-104750375	skin	malignant_melanoma	Substitution - Missense
c.1058G>A; p.R353K; 6:104791520-104791520	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.804C>G; p.L268L; 6:104796667-104796667	breast	carcinoma	Substitution - coding silent
c.177T>C; p.Y59Y; 6:104850951-104850951	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1221A>T; p.P407P; 6:104785173-104785173	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2626T>C; p.C876R; 6:104730304-104730304	skin	malignant_melanoma	Substitution - Missense
c.759G>A; p.P253P; 6:104796712-104796712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.461T>A; p.V154D; 6:104833115-104833115	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.461T>A; p.V154D; 6:104833115-104833115	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.461T>A; p.V154D; 6:104833115-104833115	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2271C>T; p.I757I; 6:104750413-104750413	breast	carcinoma	Substitution - coding silent
c.340A>G; p.M114V; 6:104843285-104843285	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2041G>A; p.A681T; 6:104771363-104771363	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2041G>A; p.A681T; 6:104771363-104771363	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.661G>A; p.A221T; 6:104796982-104796982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.328C>T; p.Q110*; 6:104843297-104843297	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1641G>T; p.R547S; 6:104777243-104777243	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.328C>T; p.Q110*; 6:104843297-104843297	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.754C>A; p.H252N; 6:104796717-104796717	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.792G>A; p.Q264Q; 6:104796679-104796679	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1777-1G>T; p.?; 6:104776829-104776829	breast	carcinoma	Unknown
c.1865G>T; p.G622V; 6:104772074-104772074	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1346C>G; p.A449G; 6:104785048-104785048	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1479-1G>T; p.?; 6:104784174-104784174	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1711T>A; p.S571T; 6:104777078-104777078	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1953G>A; p.A651A; 6:104771986-104771986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2266C>T; p.Q756*; 6:104750418-104750418	pancreas	carcinoma	Substitution - Nonsense
c.77-4T>C; p.?; 6:104852375-104852375	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.610G>A; p.A204T; 6:104811318-104811318	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.725G>T; p.G242V; 6:104796746-104796746	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1165A>T; p.T389S; 6:104785229-104785229	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1057A>G; p.R353G; 6:104791521-104791521	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2035G>A; p.D679N; 6:104771369-104771369	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.946C>G; p.Q316E; 6:104791632-104791632	breast	carcinoma	Substitution - Missense
c.1401G>T; p.M467I; 6:104784993-104784993	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.486C>A; p.A162A; 6:104833090-104833090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2667A>G; p.E889E; 6:104729725-104729725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2336A>T; p.Y779F; 6:104750348-104750348	liver	carcinoma	Substitution - Missense
c.2336A>T; p.Y779F; 6:104750348-104750348	liver	carcinoma	Substitution - Missense
c.1419A>C; p.S473S; 6:104784476-104784476	lung	carcinoma; undifferentiated_carcinoma	Substitution - coding silent
c.1262C>G; p.T421S; 6:104785132-104785132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2224C>T; p.Q742*; 6:104750460-104750460	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1812G>T; p.L604L; 6:104776793-104776793	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.430A>G; p.T144A; 6:104833146-104833146	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2222T>C; p.V741A; 6:104750462-104750462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2222T>C; p.V741A; 6:104750462-104750462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.R143W; 6:104833149-104833149	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1129G>T; p.E377*; 6:104785265-104785265	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1925G>A; p.R642Q; 6:104772014-104772014	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1212C>T; p.S404S; 6:104785182-104785182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.426delG; p.R143fs*42; 6:104833150-104833150	prostate	adenoma	Deletion - Frameshift
c.1208C>T; p.A403V; 6:104785186-104785186	skin	malignant_melanoma	Substitution - Missense
c.262G>T; p.G88*; 6:104849206-104849206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.540G>A; p.V180V; 6:104811388-104811388	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1582T>C; p.C528R; 6:104777302-104777302	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2617T>C; p.S873P; 6:104730313-104730313	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.870G>C; p.K290N; 6:104795632-104795632	breast	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]