Entrez Gene

Basic Information
Gene ID	9411
Name	ARHGAP29
Synonymous	Rho GTPase activating protein 29;ARHGAP29;Rho GTPase activating protein 29
Definition	PTPL1-associated RhoGAP 1 (PARG1)\|PTPL1-associated RhoGAP protein 1\|rho GTPase-activating protein 29\|rho-type GTPase-activating protein 29
Position	1p22.1
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 0.14.

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.3213C>T; p.G1071G; 1:94174442-94174442	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3448G>A; p.A1150T; 1:94174207-94174207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1020G>A; p.E340E; 1:94202667-94202667	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1792C>A; p.L598I; 1:94185470-94185470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.D127N; 1:94209312-94209312	skin	malignant_melanoma	Substitution - Missense
c.379G>A; p.D127N; 1:94209312-94209312	skin	malignant_melanoma	Substitution - Missense
c.1876G>A; p.D626N; 1:94185386-94185386	skin	malignant_melanoma	Substitution - Missense
c.2517C>T; p.S839S; 1:94178131-94178131	skin	malignant_melanoma	Substitution - coding silent
c.2565C>G; p.P855P; 1:94178083-94178083	skin	malignant_melanoma	Substitution - coding silent
c.232C>T; p.R78C; 1:94220366-94220366	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2621T>C; p.L874S; 1:94178027-94178027	skin	malignant_melanoma	Substitution - Missense
c.1238A>T; p.Q413L; 1:94201763-94201763	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3776A>G; p.Q1259R; 1:94173879-94173879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.642T>G; p.T214T; 1:94205116-94205116	skin	malignant_melanoma	Substitution - coding silent
c.702G>A; p.L234L; 1:94203990-94203990	skin	malignant_melanoma	Substitution - coding silent
c.1090C>T; p.L364F; 1:94202597-94202597	skin	malignant_melanoma	Substitution - Missense
c.966G>C; p.E322D; 1:94202721-94202721	breast	carcinoma	Substitution - Missense
c.2389A>G; p.N797D; 1:94179816-94179816	skin	malignant_melanoma	Substitution - Missense
c.1803T>C; p.F601F; 1:94185459-94185459	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1774G>T; p.E592*; 1:94186505-94186505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1702C>T; p.P568S; 1:94186577-94186577	skin	malignant_melanoma	Substitution - Missense
c.1336A>G; p.S446G; 1:94190029-94190029	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112delA; p.K371fs*12; 1:94202575-94202575	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1866G>A; p.T622T; 1:94185396-94185396	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1866G>A; p.T622T; 1:94185396-94185396	skin	malignant_melanoma	Substitution - coding silent
c.1866G>A; p.T622T; 1:94185396-94185396	skin	malignant_melanoma	Substitution - coding silent
c.1866G>A; p.T622T; 1:94185396-94185396	skin	malignant_melanoma	Substitution - coding silent
c.2658C>T; p.F886F; 1:94177990-94177990	skin	malignant_melanoma	Substitution - coding silent
c.1866G>A; p.T622T; 1:94185396-94185396	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.553G>A; p.E185K; 1:94205641-94205641	skin	malignant_melanoma	Substitution - Missense
c.3178G>T; p.D1060Y; 1:94174477-94174477	breast	carcinoma	Substitution - Missense
c.1773A>G; p.S591S; 1:94186506-94186506	skin	malignant_melanoma	Substitution - coding silent
c.2351T>C; p.L784P; 1:94179854-94179854	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.982G>T; p.A328S; 1:94202705-94202705	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1483G>A; p.G495R; 1:94189309-94189309	skin	malignant_melanoma	Substitution - Missense
c.2796+2T>G; p.?; 1:94177850-94177850	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.37C>T; p.R13C; 1:94231575-94231575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2567C>A; p.T856K; 1:94178081-94178081	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.572C>T; p.P191L; 1:94205186-94205186	skin	malignant_melanoma	Substitution - Missense
c.569C>T; p.S190F; 1:94205189-94205189	skin	malignant_melanoma	Substitution - Missense
c.569C>T; p.S190F; 1:94205189-94205189	skin	malignant_melanoma	Substitution - Missense
c.1622C>T; p.S541F; 1:94188896-94188896	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.3119G>T; p.G1040V; 1:94174536-94174536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>T; p.S190F; 1:94205189-94205189	skin	malignant_melanoma	Substitution - Missense
c.2998G>C; p.D1000H; 1:94174657-94174657	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2326G>C; p.E776Q; 1:94179879-94179879	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1603T>G; p.F535V; 1:94188915-94188915	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2275T>C; p.L759L; 1:94179930-94179930	pancreas	carcinoma	Substitution - coding silent
c.521A>G; p.N174S; 1:94205673-94205673	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.560G>A; p.G187E; 1:94205198-94205198	NS	malignant_melanoma	Substitution - Missense
c.249C>T; p.L83L; 1:94220349-94220349	skin	malignant_melanoma	Substitution - coding silent
c.1975C>G; p.H659D; 1:94185006-94185006	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.888G>A; p.R296R; 1:94202984-94202984	skin	malignant_melanoma	Substitution - coding silent
c.888G>A; p.R296R; 1:94202984-94202984	skin	malignant_melanoma	Substitution - coding silent
c.2009G>A; p.G670E; 1:94184972-94184972	skin	malignant_melanoma	Substitution - Missense
c.916G>A; p.E306K; 1:94202956-94202956	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1576+6T>G; p.?; 1:94189210-94189210	liver	carcinoma	Unknown
c.1576+6T>G; p.?; 1:94189210-94189210	liver	carcinoma	Unknown
c.3737G>A; p.R1246Q; 1:94173918-94173918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1835C>T; p.T612I; 1:94185427-94185427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2599G>C; p.E867Q; 1:94178049-94178049	breast	carcinoma	Substitution - Missense
c.2392C>T; p.R798*; 1:94179813-94179813	liver	carcinoma	Substitution - Nonsense
c.3409G>A; p.E1137K; 1:94174246-94174246	skin	malignant_melanoma	Substitution - Missense
c.3697C>G; p.P1233A; 1:94173958-94173958	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2416C>T; p.L806F; 1:94179789-94179789	skin	malignant_melanoma	Substitution - Missense
c.1654T>C; p.S552P; 1:94188864-94188864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3031C>T; p.P1011S; 1:94174624-94174624	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.413C>T; p.T138I; 1:94209278-94209278	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3269T>C; p.L1090P; 1:94174386-94174386	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1196G>C; p.R399T; 1:94201805-94201805	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.437T>G; p.I146S; 1:94209254-94209254	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3206T>G; p.F1069C; 1:94174449-94174449	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2532G>A; p.V844V; 1:94178116-94178116	skin	malignant_melanoma	Substitution - coding silent
c.2532G>A; p.V844V; 1:94178116-94178116	skin	malignant_melanoma	Substitution - coding silent
c.916G>T; p.E306*; 1:94202956-94202956	breast	carcinoma	Substitution - Nonsense
c.2962G>A; p.D988N; 1:94174693-94174693	skin	malignant_melanoma	Substitution - Missense
c.2962G>A; p.D988N; 1:94174693-94174693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1503G>C; p.E501D; 1:94189289-94189289	breast	carcinoma	Substitution - Missense
c.1075G>A; p.G359R; 1:94202612-94202612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3604G>A; p.V1202M; 1:94174051-94174051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1129G>C; p.E377Q; 1:94202558-94202558	liver	carcinoma	Substitution - Missense
c.540G>A; p.V180V; 1:94205654-94205654	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3578G>T; p.G1193V; 1:94174077-94174077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2273G>A; p.R758Q; 1:94179932-94179932	breast	carcinoma	Substitution - Missense
c.2293G>T; p.D765Y; 1:94179912-94179912	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2273G>A; p.R758Q; 1:94179932-94179932	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.384C>T; p.L128L; 1:94209307-94209307	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2109G>T; p.Q703H; 1:94184872-94184872	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2109G>T; p.Q703H; 1:94184872-94184872	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.190G>A; p.E64K; 1:94231422-94231422	breast	carcinoma	Substitution - Missense
c.2374A>G; p.M792V; 1:94179831-94179831	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3597C>T; p.H1199H; 1:94174058-94174058	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.3217G>C; p.D1073H; 1:94174438-94174438	oesophagus	carcinoma	Substitution - Missense
c.698-2A>C; p.?; 1:94203996-94203996	kidney	other; neoplasm	Unknown
c.3329G>A; p.S1110N; 1:94174326-94174326	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1073G>A; p.G358D; 1:94202614-94202614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1645G>A; p.E549K; 1:94188873-94188873	skin	malignant_melanoma	Substitution - Missense
c.1645G>A; p.E549K; 1:94188873-94188873	skin	malignant_melanoma	Substitution - Missense
c.1645G>A; p.E549K; 1:94188873-94188873	skin	malignant_melanoma	Substitution - Missense
c.1645G>A; p.E549K; 1:94188873-94188873	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1221A>G; p.K407K; 1:94201780-94201780	skin	malignant_melanoma	Substitution - coding silent
c.1143+6G>A; p.?; 1:94202538-94202538	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3250C>G; p.Q1084E; 1:94174405-94174405	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1042C>T; p.R348C; 1:94202645-94202645	skin	malignant_melanoma	Substitution - Missense
c.1042C>T; p.R348C; 1:94202645-94202645	skin	malignant_melanoma	Substitution - Missense
c.2810C>T; p.S937L; 1:94177707-94177707	skin	malignant_melanoma	Substitution - Missense
c.3623A>C; p.D1208A; 1:94174032-94174032	skin	malignant_melanoma	Substitution - Missense
c.3271A>C; p.T1091P; 1:94174384-94174384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.571C>T; p.P191S; 1:94205187-94205187	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2833G>C; p.E945Q; 1:94177684-94177684	oesophagus	carcinoma	Substitution - Missense
c.107C>T; p.S36F; 1:94231505-94231505	NS	malignant_melanoma	Substitution - Missense
c.2224G>A; p.V742I; 1:94184174-94184174	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.240G>T; p.E80D; 1:94220358-94220358	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1626G>A; p.E542E; 1:94188892-94188892	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3152C>T; p.P1051L; 1:94174503-94174503	liver	carcinoma	Substitution - Missense
c.1043G>A; p.R348H; 1:94202644-94202644	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3152C>T; p.P1051L; 1:94174503-94174503	liver	carcinoma	Substitution - Missense
c.1763delC; p.P588fs*18; 1:94186516-94186516	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2120G>A; p.R707H; 1:94184278-94184278	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.367G>A; p.E123K; 1:94209324-94209324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2617C>T; p.R873C; 1:94178031-94178031	breast	carcinoma	Substitution - Missense
c.3429T>G; p.S1143S; 1:94174226-94174226	oesophagus	carcinoma	Substitution - coding silent
c.1886G>A; p.G629D; 1:94185376-94185376	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3535A>G; p.N1179D; 1:94174120-94174120	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1991G>A; p.G664E; 1:94184990-94184990	skin	malignant_melanoma	Substitution - Missense
c.3760G>A; p.E1254K; 1:94173895-94173895	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1991G>A; p.G664E; 1:94184990-94184990	skin	malignant_melanoma	Substitution - Missense
c.3760G>A; p.E1254K; 1:94173895-94173895	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2423G>C; p.R808T; 1:94179782-94179782	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2335A>T; p.T779S; 1:94179870-94179870	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1681+2T>C; p.?; 1:94188835-94188835	breast	carcinoma; ductal_carcinoma	Unknown
c.2423G>C; p.R808T; 1:94179782-94179782	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3433G>T; p.D1145Y; 1:94174222-94174222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3759C>T; p.L1253L; 1:94173896-94173896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3035G>A; p.R1012K; 1:94174620-94174620	skin	malignant_melanoma	Substitution - Missense
c.2073T>C; p.C691C; 1:94184908-94184908	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1791C>T; p.S597S; 1:94185471-94185471	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.500G>A; p.R167Q; 1:94208842-94208842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.388C>T; p.Q130*; 1:94209303-94209303	skin	malignant_melanoma	Substitution - Nonsense
c.388C>T; p.Q130*; 1:94209303-94209303	skin	malignant_melanoma	Substitution - Nonsense
c.3279G>A; p.K1093K; 1:94174376-94174376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1791C>T; p.S597S; 1:94185471-94185471	pancreas	carcinoma	Substitution - coding silent
c.2078C>A; p.S693*; 1:94184903-94184903	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2797G>A; p.D933N; 1:94177720-94177720	skin	malignant_melanoma	Substitution - Missense
c.2797G>A; p.D933N; 1:94177720-94177720	skin	malignant_melanoma	Substitution - Missense
c.1159G>T; p.E387*; 1:94201842-94201842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2871A>C; p.Q957H; 1:94177646-94177646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1899C>T; p.F633F; 1:94185363-94185363	skin	malignant_melanoma	Substitution - coding silent
c.2676delA; p.Q893fs*7; 1:94177972-94177972	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1736C>T; p.A579V; 1:94186543-94186543	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3131T>C; p.L1044S; 1:94174524-94174524	pancreas	carcinoma	Substitution - Missense
c.2882G>A; p.G961E; 1:94177635-94177635	skin	malignant_melanoma	Substitution - Missense
c.2882G>A; p.G961E; 1:94177635-94177635	skin	malignant_melanoma	Substitution - Missense
c.3119G>A; p.G1040E; 1:94174536-94174536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3119G>A; p.G1040E; 1:94174536-94174536	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2611C>G; p.Q871E; 1:94178037-94178037	breast	carcinoma	Substitution - Missense
c.2417T>G; p.L806R; 1:94179788-94179788	skin	malignant_melanoma	Substitution - Missense
c.2443T>G; p.F815V; 1:94179762-94179762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1286C>G; p.T429R; 1:94190079-94190079	central_nervous_system; brain	glioma	Substitution - Missense
c.825C>A; p.H275Q; 1:94203148-94203148	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1672A>G; p.I558V; 1:94188846-94188846	liver	carcinoma	Substitution - Missense
c.1672A>G; p.I558V; 1:94188846-94188846	liver	carcinoma	Substitution - Missense
c.1830T>C; p.A610A; 1:94185432-94185432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3222G>A; p.Q1074Q; 1:94174433-94174433	thyroid	carcinoma	Substitution - coding silent
c.1426G>T; p.E476*; 1:94189939-94189939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2326G>T; p.E776*; 1:94179879-94179879	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.38G>A; p.R13H; 1:94231574-94231574	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.249C>A; p.L83L; 1:94220349-94220349	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2284G>A; p.E762K; 1:94179921-94179921	skin	malignant_melanoma	Substitution - Missense
c.2822G>A; p.S941N; 1:94177695-94177695	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2601G>T; p.E867D; 1:94178047-94178047	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3067G>C; p.D1023H; 1:94174588-94174588	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3067G>C; p.D1023H; 1:94174588-94174588	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887G>A; p.R296K; 1:94202985-94202985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1244G>A; p.R415Q; 1:94201757-94201757	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1244G>A; p.R415Q; 1:94201757-94201757	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3646C>T; p.P1216S; 1:94174009-94174009	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3479C>G; p.P1160R; 1:94174176-94174176	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3331C>G; p.L1111V; 1:94174324-94174324	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1415C>T; p.S472L; 1:94189950-94189950	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1415C>T; p.S472L; 1:94189950-94189950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2119C>T; p.R707C; 1:94184279-94184279	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2044G>A; p.D682N; 1:94184937-94184937	skin	malignant_melanoma	Substitution - Missense
c.3631A>G; p.K1211E; 1:94174024-94174024	skin	malignant_melanoma	Substitution - Missense
c.1076G>A; p.G359E; 1:94202611-94202611	skin	malignant_melanoma	Substitution - Missense
c.2217C>T; p.I739I; 1:94184181-94184181	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2330A>G; p.Q777R; 1:94179875-94179875	skin	malignant_melanoma	Substitution - Missense
c.1741G>A; p.D581N; 1:94186538-94186538	breast	carcinoma	Substitution - Missense
c.1505A>T; p.D502V; 1:94189287-94189287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.431G>A; p.G144E; 1:94209260-94209260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1144-1G>T; p.?; 1:94201858-94201858	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.55C>G; p.Q19E; 1:94231557-94231557	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3023G>A; p.R1008K; 1:94174632-94174632	skin	malignant_melanoma	Substitution - Missense
c.217G>T; p.E73*; 1:94220381-94220381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.713G>C; p.R238T; 1:94203979-94203979	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3668C>T; p.P1223L; 1:94173987-94173987	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2798A>G; p.D933G; 1:94177719-94177719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2798A>G; p.D933G; 1:94177719-94177719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2161G>C; p.A721P; 1:94184237-94184237	breast	carcinoma	Substitution - Missense
c.1192G>T; p.E398*; 1:94201809-94201809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3507A>G; p.P1169P; 1:94174148-94174148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.912G>T; p.R304S; 1:94202960-94202960	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1367T>G; p.L456R; 1:94189998-94189998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.611C>G; p.S204C; 1:94205147-94205147	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1633G>A; p.G545R; 1:94188885-94188885	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1681+2T>C; p.?; 1:94188835-94188835	breast	carcinoma; ductal_carcinoma	Unknown
c.512C>T; p.S171L; 1:94205682-94205682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.512C>T; p.S171L; 1:94205682-94205682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2272C>T; p.R758*; 1:94179933-94179933	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.2964T>C; p.D988D; 1:94174691-94174691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2374A>C; p.M792L; 1:94179831-94179831	skin	malignant_melanoma	Substitution - Missense
c.2272C>T; p.R758*; 1:94179933-94179933	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.3118G>A; p.G1040R; 1:94174537-94174537	skin	malignant_melanoma	Substitution - Missense
c.2272C>T; p.R758*; 1:94179933-94179933	skin	malignant_melanoma	Substitution - Nonsense
c.439C>A; p.L147I; 1:94208903-94208903	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3147G>C; p.K1049N; 1:94174508-94174508	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1846C>T; p.R616C; 1:94185416-94185416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1635A>G; p.G545G; 1:94188883-94188883	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.784C>T; p.L262L; 1:94203189-94203189	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.430G>A; p.G144R; 1:94209261-94209261	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1105G>C; p.E369Q; 1:94202582-94202582	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1027_1028delAA; p.K343fs*44; 1:94202659-94202660	breast	carcinoma	Deletion - Frameshift
c.3442C>T; p.P1148S; 1:94174213-94174213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.375A>T; p.K125N; 1:94209316-94209316	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2072G>A; p.C691Y; 1:94184909-94184909	skin	malignant_melanoma	Substitution - Missense
c.98C>T; p.S33F; 1:94231514-94231514	skin	malignant_melanoma	Substitution - Missense
c.2375T>C; p.M792T; 1:94179830-94179830	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2375T>C; p.M792T; 1:94179830-94179830	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.335T>C; p.V112A; 1:94220263-94220263	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1684G>A; p.D562N; 1:94186595-94186595	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286C>T; p.L96F; 1:94220312-94220312	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.708C>T; p.S236S; 1:94203984-94203984	skin	malignant_melanoma	Substitution - coding silent
c.3425G>T; p.R1142L; 1:94174230-94174230	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1655C>G; p.S552C; 1:94188863-94188863	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2676A>G; p.P892P; 1:94177972-94177972	liver	carcinoma	Substitution - coding silent
c.1655C>G; p.S552C; 1:94188863-94188863	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.450C>T; p.F150F; 1:94208892-94208892	skin	malignant_melanoma	Substitution - coding silent
c.632A>G; p.Y211C; 1:94205126-94205126	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1990G>A; p.G664R; 1:94184991-94184991	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3682G>C; p.E1228Q; 1:94173973-94173973	breast	carcinoma	Substitution - Missense
c.707C>T; p.S236F; 1:94203985-94203985	skin	malignant_melanoma	Substitution - Missense
c.707C>T; p.S236F; 1:94203985-94203985	skin	malignant_melanoma	Substitution - Missense
c.843T>C; p.I281I; 1:94203130-94203130	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1940G>A; p.R647Q; 1:94185041-94185041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1940G>A; p.R647Q; 1:94185041-94185041	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1860C>T; p.S620S; 1:94185402-94185402	skin	malignant_melanoma	Substitution - coding silent
c.1940G>A; p.R647Q; 1:94185041-94185041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1940G>A; p.R647Q; 1:94185041-94185041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1940G>A; p.R647Q; 1:94185041-94185041	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1004G>A; p.R335H; 1:94202683-94202683	breast	carcinoma	Substitution - Missense
c.1561A>C; p.S521R; 1:94189231-94189231	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3673G>T; p.E1225*; 1:94173982-94173982	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2939A>G; p.E980G; 1:94174716-94174716	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1329T>C; p.L443L; 1:94190036-94190036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.616G>A; p.E206K; 1:94205142-94205142	skin	malignant_melanoma	Substitution - Missense
c.3676G>T; p.D1226Y; 1:94173979-94173979	breast	carcinoma	Substitution - Missense
c.2876C>T; p.A959V; 1:94177641-94177641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2876C>T; p.A959V; 1:94177641-94177641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995G>A; p.C332Y; 1:94202692-94202692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2591C>G; p.S864C; 1:94178057-94178057	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2078C>G; p.S693*; 1:94184903-94184903	breast	carcinoma	Substitution - Nonsense
c.1307A>G; p.Q436R; 1:94190058-94190058	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2464A>G; p.I822V; 1:94179741-94179741	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.10C>T; p.H4Y; 1:94231602-94231602	skin	malignant_melanoma	Substitution - Missense
c.2989C>T; p.L997L; 1:94174666-94174666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1976A>G; p.H659R; 1:94185005-94185005	skin	malignant_melanoma	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]