Entrez Gene

Basic Information
Gene ID	8643
Name	PTCH2
Synonymous	patched 2;PTCH2;patched 2
Definition	patched homolog 2\|protein patched homolog 2
Position	1p34.1
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 0.08.

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.1172C>T; p.S391F; 1:44829445-44829445	skin	malignant_melanoma	Substitution - Missense
c.472A>T; p.K158*; 1:44832028-44832028	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.774C>T; p.L258L; 1:44830887-44830887	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.790G>A; p.A264T; 1:44830871-44830871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2030C>T; p.A677V; 1:44827871-44827871	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3474C>T; p.T1158T; 1:44822553-44822553	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.782C>A; p.P261Q; 1:44830879-44830879	skin	malignant_melanoma	Substitution - Missense
c.1909A>G; p.S637G; 1:44827992-44827992	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2642delC; p.P881fs*112; 1:44826955-44826955	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2642delC; p.P881fs*112; 1:44826955-44826955	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2642delC; p.P881fs*112; 1:44826955-44826955	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2642delC; p.P881fs*112; 1:44826955-44826955	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.726G>T; p.Q242H; 1:44830935-44830935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3548G>A; p.W1183*; 1:44822479-44822479	skin	malignant_melanoma	Substitution - Nonsense
c.1823C>T; p.A608V; 1:44828078-44828078	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3350C>T; p.P1117L; 1:44823076-44823076	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.821A>G; p.N274S; 1:44830023-44830023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.71A>G; p.Q24R; 1:44842862-44842862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1308G>T; p.A436A; 1:44829220-44829220	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3147G>A; p.L1049L; 1:44823353-44823353	breast	carcinoma	Substitution - coding silent
c.3269C>T; p.A1090V; 1:44823157-44823157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1494G>A; p.T498T; 1:44828602-44828602	skin	malignant_melanoma	Substitution - coding silent
c.3269C>T; p.A1090V; 1:44823157-44823157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3269C>T; p.A1090V; 1:44823157-44823157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.202delG; p.A68fs*4; 1:44841910-44841910	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.1865A>C; p.H622P; 1:44828036-44828036	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.498C>T; p.P166P; 1:44832002-44832002	skin	malignant_melanoma	Substitution - coding silent
c.835C>A; p.L279M; 1:44830009-44830009	pancreas	carcinoma	Substitution - Missense
c.2810C>T; p.A937V; 1:44826654-44826654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3018C>G; p.I1006M; 1:44826346-44826346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1329C>T; p.L443L; 1:44829199-44829199	skin	malignant_melanoma	Substitution - coding silent
c.2335C>T; p.R779C; 1:44827438-44827438	skin	malignant_melanoma	Substitution - Missense
c.2878C>T; p.L960L; 1:44826586-44826586	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1711C>T; p.P571S; 1:44828190-44828190	skin	malignant_melanoma	Substitution - Missense
c.1398C>T; p.I466I; 1:44829048-44829048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1398C>T; p.I466I; 1:44829048-44829048	pancreas	carcinoma	Substitution - coding silent
c.1215G>A; p.M405I; 1:44829402-44829402	skin	malignant_melanoma	Substitution - Missense
c.472A>G; p.K158E; 1:44832028-44832028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3244G>T; p.D1082Y; 1:44823256-44823256	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3543C>T; p.P1181P; 1:44822484-44822484	skin	malignant_melanoma	Substitution - coding silent
c.917C>T; p.P306L; 1:44829927-44829927	skin	malignant_melanoma	Substitution - Missense
c.625C>T; p.P209S; 1:44831036-44831036	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2991G>A; p.A997A; 1:44826373-44826373	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.625C>T; p.P209S; 1:44831036-44831036	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1565C>T; p.P522L; 1:44828531-44828531	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1565C>T; p.P522L; 1:44828531-44828531	skin	malignant_melanoma	Substitution - Missense
c.2023C>T; p.Q675*; 1:44827878-44827878	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2554C>T; p.P852S; 1:44827043-44827043	skin	malignant_melanoma	Substitution - Missense
c.248A>G; p.E83G; 1:44841864-44841864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3289C>T; p.L1097F; 1:44823137-44823137	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3289C>T; p.L1097F; 1:44823137-44823137	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.248A>G; p.E83G; 1:44841864-44841864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1096G>A; p.A366T; 1:44829521-44829521	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1221C>T; p.A407A; 1:44829307-44829307	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1702T>C; p.F568L; 1:44828303-44828303	skin	malignant_melanoma	Substitution - Missense
c.247G>A; p.E83K; 1:44841865-44841865	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.718A>G; p.K240E; 1:44830943-44830943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1528A>C; p.M510L; 1:44828568-44828568	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1424C>T; p.A475V; 1:44829022-44829022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2806G>A; p.E936K; 1:44826658-44826658	skin	malignant_melanoma	Substitution - Missense
c.1266G>T; p.Q422H; 1:44829262-44829262	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3275T>C; p.L1092P; 1:44823151-44823151	prostate	carcinoma	Substitution - Missense
c.719A>G; p.K240R; 1:44830942-44830942	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.719A>G; p.K240R; 1:44830942-44830942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1784A>C; p.H595P; 1:44828117-44828117	breast	carcinoma	Substitution - Missense
c.1411G>A; p.V471I; 1:44829035-44829035	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1411G>A; p.V471I; 1:44829035-44829035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2884C>T; p.R962C; 1:44826580-44826580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1354A>G; p.N452D; 1:44829174-44829174	kidney	other; neoplasm	Substitution - Missense
c.1681C>T; p.R561C; 1:44828324-44828324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.355G>A; p.A119T; 1:44832252-44832252	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2212G>T; p.E738*; 1:44827561-44827561	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1139C>T; p.S380F; 1:44829478-44829478	skin	malignant_melanoma	Substitution - Missense
c.2429A>C; p.Y810S; 1:44827252-44827252	meninges	meningioma	Substitution - Missense
c.359G>A; p.R120H; 1:44832248-44832248	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1284C>A; p.A428A; 1:44829244-44829244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.239C>A; p.T80K; 1:44841873-44841873	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2791C>T; p.R931W; 1:44826673-44826673	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3220C>T; p.L1074F; 1:44823280-44823280	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2583C>A; p.T861T; 1:44827014-44827014	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2558C>T; p.P853L; 1:44827039-44827039	skin; upper_back	malignant_melanoma	Substitution - Missense
c.3366G>T; p.Q1122H; 1:44822661-44822661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2014G>A; p.A672T; 1:44827887-44827887	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2466G>T; p.K822N; 1:44827215-44827215	pancreas	carcinoma	Substitution - Missense
c.2055T>C; p.A685A; 1:44827846-44827846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2055T>C; p.A685A; 1:44827846-44827846	thyroid	other; neoplasm	Substitution - coding silent
c.2055T>C; p.A685A; 1:44827846-44827846	thyroid	other; neoplasm	Substitution - coding silent
c.2838C>T; p.P946P; 1:44826626-44826626	liver	carcinoma	Substitution - coding silent
c.2838C>T; p.P946P; 1:44826626-44826626	liver	carcinoma	Substitution - coding silent
c.2408G>A; p.G803E; 1:44827273-44827273	skin	malignant_melanoma	Substitution - Missense
c.1070G>A; p.R357Q; 1:44829627-44829627	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.283C>A; p.Q95K; 1:44832324-44832324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1402G>A; p.V468M; 1:44829044-44829044	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2584G>T; p.V862L; 1:44827013-44827013	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>A; p.G429R; 1:44829243-44829243	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3423T>A; p.L1141L; 1:44822604-44822604	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1319G>A; p.G440D; 1:44829209-44829209	skin	malignant_melanoma	Substitution - Missense
c.3279A>T; p.T1093T; 1:44823147-44823147	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3140G>A; p.R1047Q; 1:44823360-44823360	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.703C>T; p.R235W; 1:44830958-44830958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.703C>T; p.R235W; 1:44830958-44830958	skin	malignant_melanoma	Substitution - Missense
c.2645C>T; p.P882L; 1:44826952-44826952	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1207C>A; p.L403M; 1:44829410-44829410	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1953G>T; p.E651D; 1:44827948-44827948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2619C>T; p.A873A; 1:44826978-44826978	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2605C>T; p.L869L; 1:44826992-44826992	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.720G>A; p.K240K; 1:44830941-44830941	skin	malignant_melanoma	Substitution - coding silent
c.679C>T; p.P227S; 1:44830982-44830982	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2331A>C; p.A777A; 1:44827442-44827442	thyroid	other; neoplasm	Substitution - coding silent
c.599G>T; p.G200V; 1:44831724-44831724	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1493C>T; p.T498M; 1:44828603-44828603	NS	malignant_melanoma	Substitution - Missense
c.2743C>T; p.R915C; 1:44826721-44826721	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.275G>C; p.R92P; 1:44832332-44832332	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2432G>A; p.R811H; 1:44827249-44827249	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2432G>A; p.R811H; 1:44827249-44827249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2197T>C; p.Y733H; 1:44827576-44827576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3589G>A; p.G1197R; 1:44822438-44822438	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2185G>A; p.A729T; 1:44827588-44827588	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.425C>T; p.A142V; 1:44832182-44832182	skin; trunk	malignant_melanoma	Substitution - Missense
c.2303C>T; p.A768V; 1:44827470-44827470	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1539C>T; p.F513F; 1:44828557-44828557	skin	malignant_melanoma	Substitution - coding silent
c.3115-1G>T; p.?; 1:44823386-44823386	pancreas	carcinoma	Unknown
c.2853C>T; p.F951F; 1:44826611-44826611	skin	malignant_melanoma	Substitution - coding silent
c.1539C>T; p.F513F; 1:44828557-44828557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.579G>T; p.W193C; 1:44831744-44831744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2792G>A; p.R931Q; 1:44826672-44826672	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3450C>T; p.P1150P; 1:44822577-44822577	skin	malignant_melanoma	Substitution - coding silent
c.3505delC; p.L1169fs*>35; 1:44822522-44822522	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2064C>T; p.I688I; 1:44827709-44827709	skin	malignant_melanoma	Substitution - coding silent
c.2922C>T; p.C974C; 1:44826542-44826542	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.72G>T; p.Q24H; 1:44842861-44842861	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2404T>A; p.S802T; 1:44827277-44827277	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.90G>C; p.L30L; 1:44842022-44842022	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2957C>T; p.P986L; 1:44826507-44826507	skin	malignant_melanoma	Substitution - Missense
c.2376_2377delCC; p.Q793fs*4; 1:44827304-44827305	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.445_455+3delCTCTATGGGAAGTG; p.?; 1:44832149-44832162	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.2332C>A; p.P778T; 1:44827441-44827441	pancreas	carcinoma	Substitution - Missense
c.2472C>T; p.L824L; 1:44827209-44827209	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1476C>T; p.G492G; 1:44828620-44828620	central_nervous_system; brain	glioma	Substitution - coding silent
c.1920_1921delGT; p.S641fs*45; 1:44827980-44827981	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1682G>A; p.R561H; 1:44828323-44828323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1072C>T; p.R358C; 1:44829625-44829625	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3190G>A; p.D1064N; 1:44823310-44823310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2034G>T; p.P678P; 1:44827867-44827867	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2212G>A; p.E738K; 1:44827561-44827561	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.2671G>A; p.D891N; 1:44826926-44826926	skin	malignant_melanoma	Substitution - Missense
c.2662G>A; p.D888N; 1:44826935-44826935	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.578G>T; p.W193L; 1:44831745-44831745	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.511_512GG>AA; p.G171K; 1:44831988-44831989	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.147C>T; p.C49C; 1:44841965-44841965	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3054C>T; p.P1018P; 1:44826310-44826310	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.711G>C; p.L237L; 1:44830950-44830950	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2664C>T; p.D888D; 1:44826933-44826933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.512G>C; p.G171A; 1:44831988-44831988	pancreas	carcinoma	Substitution - Missense
c.818C>T; p.P273L; 1:44830026-44830026	skin	malignant_melanoma	Substitution - Missense
c.878G>C; p.W293S; 1:44829966-44829966	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2487C>T; p.D829D; 1:44827194-44827194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.512G>C; p.G171A; 1:44831988-44831988	pancreas	carcinoma	Substitution - Missense
c.512G>C; p.G171A; 1:44831988-44831988	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.878G>C; p.W293S; 1:44829966-44829966	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.878G>C; p.W293S; 1:44829966-44829966	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2372-2A>G; p.?; 1:44827311-44827311	stomach	carcinoma; adenocarcinoma	Unknown
c.3087C>T; p.G1029G; 1:44826277-44826277	central_nervous_system; brain	glioma	Substitution - coding silent
c.1307C>T; p.A436V; 1:44829221-44829221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1928G>A; p.R643Q; 1:44827973-44827973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.370G>C; p.E124Q; 1:44832237-44832237	breast	carcinoma	Substitution - Missense
c.1496G>A; p.G499D; 1:44828600-44828600	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1920G>T; p.G640G; 1:44827981-44827981	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2031C>T; p.A677A; 1:44827870-44827870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3417C>T; p.G1139G; 1:44822610-44822610	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2764G>A; p.D922N; 1:44826700-44826700	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1666C>T; p.R556W; 1:44828339-44828339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1666C>T; p.R556W; 1:44828339-44828339	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1883C>T; p.S628F; 1:44828018-44828018	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1883C>T; p.S628F; 1:44828018-44828018	skin	malignant_melanoma	Substitution - Missense
c.3184G>A; p.V1062M; 1:44823316-44823316	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3184G>A; p.V1062M; 1:44823316-44823316	pancreas	carcinoma	Substitution - Missense
c.2013C>T; p.F671F; 1:44827888-44827888	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2996T>C; p.M999T; 1:44826368-44826368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3088G>A; p.V1030I; 1:44826276-44826276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.689C>T; p.S230F; 1:44830972-44830972	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.689C>T; p.S230F; 1:44830972-44830972	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1594G>A; p.A532T; 1:44828411-44828411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.382A>G; p.T128A; 1:44832225-44832225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1425G>T; p.A475A; 1:44829021-44829021	breast	carcinoma	Substitution - coding silent
c.2661C>T; p.H887H; 1:44826936-44826936	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3476C>T; p.S1159F; 1:44822551-44822551	skin	malignant_melanoma	Substitution - Missense
c.1787T>A; p.L596H; 1:44828114-44828114	breast	carcinoma	Substitution - Missense
c.2990C>T; p.A997V; 1:44826374-44826374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.997C>T; p.R333W; 1:44829700-44829700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2834A>C; p.Y945S; 1:44826630-44826630	urinary_tract; bladder	carcinoma	Substitution - Missense
c.113C>G; p.A38G; 1:44841999-44841999	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1747G>A; p.E583K; 1:44828154-44828154	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.113C>G; p.A38G; 1:44841999-44841999	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3418G>A; p.G1140R; 1:44822609-44822609	skin; neck	malignant_melanoma	Substitution - Missense
c.1913C>G; p.P638R; 1:44827988-44827988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.335C>T; p.S112F; 1:44832272-44832272	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1710T>C; p.S570S; 1:44828191-44828191	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1758C>T; p.D586D; 1:44828143-44828143	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1489C>T; p.R497C; 1:44828607-44828607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2233_2234GG>AA; p.G745N; 1:44827539-44827540	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>C; p.E79Q; 1:44841877-44841877	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.237G>C; p.E79D; 1:44841875-44841875	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1288delG; p.V430fs*104; 1:44829240-44829240	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1980C>T; p.S660S; 1:44827921-44827921	skin	malignant_melanoma	Substitution - coding silent
c.2540G>C; p.R847T; 1:44827057-44827057	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>A; p.A68D; 1:44841909-44841909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2637C>T; p.Y879Y; 1:44826960-44826960	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2932G>A; p.V978I; 1:44826532-44826532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2385C>T; p.A795A; 1:44827296-44827296	skin	malignant_melanoma	Substitution - coding silent
c.3574A>C; p.N1192H; 1:44822453-44822453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2432G>T; p.R811L; 1:44827249-44827249	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1210C>T; p.L404F; 1:44829407-44829407	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1210C>T; p.L404F; 1:44829407-44829407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.249A>G; p.E83E; 1:44841863-44841863	central_nervous_system; brain	glioma	Substitution - coding silent
c.249A>G; p.E83E; 1:44841863-44841863	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2033C>T; p.P678L; 1:44827868-44827868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1555G>A; p.V519I; 1:44828541-44828541	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.927G>A; p.E309E; 1:44829917-44829917	skin	malignant_melanoma	Substitution - coding silent
c.2898G>T; p.L966L; 1:44826566-44826566	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1475G>A; p.G492D; 1:44828621-44828621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3505_3506insC; p.L1169fs*11; 1:44822521-44822522	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3433delG; p.A1145fs*12; 1:44822594-44822594	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3505_3506insC; p.L1169fs*11; 1:44822521-44822522	breast	carcinoma	Insertion - Frameshift
c.3505_3506insC; p.L1169fs*11; 1:44822521-44822522	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3505_3506insC; p.L1169fs*11; 1:44822521-44822522	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.991C>T; p.H331Y; 1:44829706-44829706	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1913C>T; p.P638L; 1:44827988-44827988	skin	malignant_melanoma	Substitution - Missense
c.988G>A; p.E330K; 1:44829709-44829709	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.988G>A; p.E330K; 1:44829709-44829709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.546G>T; p.P182P; 1:44831777-44831777	oesophagus	carcinoma	Substitution - coding silent
c.663G>A; p.L221L; 1:44830998-44830998	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2963C>T; p.T988M; 1:44826501-44826501	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2963C>T; p.T988M; 1:44826501-44826501	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2963C>T; p.T988M; 1:44826501-44826501	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2963C>T; p.T988M; 1:44826501-44826501	thyroid	other; neoplasm	Substitution - Missense
c.2963C>T; p.T988M; 1:44826501-44826501	large_intestine	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]