Entrez Gene

Basic Information
Gene ID	10788
Name	IQGAP2
Synonymous	IQ motif containing GTPase activating protein 2;IQGAP2;IQ motif containing GTPase activating protein 2
Definition	ras GTPase-activating-like protein IQGAP2
Position	5q13.3
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 0.18.

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.915T>A; p.A305A; 5:76597446-76597446	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3453C>G; p.N1151K; 5:76674635-76674635	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1847A>G; p.D616G; 5:76637100-76637100	liver	carcinoma	Substitution - Missense
c.2261T>A; p.I754N; 5:76654944-76654944	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1847A>G; p.D616G; 5:76637100-76637100	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1156G>T; p.D386Y; 5:76600896-76600896	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.506T>C; p.L169S; 5:76588953-76588953	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1364T>C; p.V455A; 5:76611026-76611026	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1364T>C; p.V455A; 5:76611026-76611026	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1364T>C; p.V455A; 5:76611026-76611026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1791C>T; p.D597D; 5:76637044-76637044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1791C>T; p.D597D; 5:76637044-76637044	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.726G>A; p.A242A; 5:76590493-76590493	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4341G>A; p.K1447K; 5:76698121-76698121	skin	malignant_melanoma	Substitution - coding silent
c.829A>G; p.I277V; 5:76592847-76592847	liver	carcinoma	Substitution - Missense
c.2733C>T; p.S911S; 5:76668734-76668734	skin	malignant_melanoma	Substitution - coding silent
c.2980G>A; p.D994N; 5:76671895-76671895	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3724G>A; p.G1242R; 5:76683178-76683178	NS	malignant_melanoma	Substitution - Missense
c.616G>A; p.E206K; 5:76589704-76589704	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1512G>A; p.Q504Q; 5:76611174-76611174	breast	carcinoma	Substitution - coding silent
c.3724G>A; p.G1242R; 5:76683178-76683178	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2333A>C; p.N778T; 5:76658471-76658471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.901G>T; p.V301F; 5:76592919-76592919	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4594A>C; p.K1532Q; 5:76702570-76702570	prostate	carcinoma	Substitution - Missense
c.844_845delAG; p.D283fs*3; 5:76592862-76592863	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2168C>T; p.S723F; 5:76652823-76652823	liver	carcinoma	Substitution - Missense
c.2168C>T; p.S723F; 5:76652823-76652823	liver	carcinoma	Substitution - Missense
c.2354G>A; p.R785H; 5:76658492-76658492	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4024C>A; p.R1342S; 5:76695484-76695484	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2780C>G; p.S927C; 5:76668781-76668781	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1072-1G>A; p.?; 5:76600811-76600811	skin	malignant_melanoma	Unknown
c.4398A>G; p.G1466G; 5:76701106-76701106	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.175T>G; p.L59V; 5:76562424-76562424	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4398A>G; p.G1466G; 5:76701106-76701106	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2637delA; p.T881fs*2; 5:76665133-76665133	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2637delA; p.T881fs*2; 5:76665133-76665133	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2562G>A; p.K854K; 5:76665058-76665058	skin	malignant_melanoma	Substitution - coding silent
c.1603G>T; p.A535S; 5:76627491-76627491	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.444C>A; p.C148*; 5:76575755-76575755	liver	carcinoma	Substitution - Nonsense
c.444C>A; p.C148*; 5:76575755-76575755	liver	carcinoma	Substitution - Nonsense
c.4636G>C; p.E1546Q; 5:76707221-76707221	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1960G>T; p.E654*; 5:76640969-76640969	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.444C>A; p.C148*; 5:76575755-76575755	liver	carcinoma	Substitution - Nonsense
c.2926C>A; p.R976R; 5:76671841-76671841	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2749A>C; p.T917P; 5:76668750-76668750	skin	malignant_melanoma	Substitution - Missense
c.3267C>T; p.P1089P; 5:76674009-76674009	pancreas	carcinoma	Substitution - coding silent
c.4040C>A; p.S1347Y; 5:76695500-76695500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2599G>A; p.D867N; 5:76665095-76665095	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3327G>T; p.M1109I; 5:76674509-76674509	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2599G>A; p.D867N; 5:76665095-76665095	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2102G>A; p.W701*; 5:76652757-76652757	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.2221C>T; p.L741F; 5:76654242-76654242	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.448C>T; p.H150Y; 5:76575759-76575759	skin	malignant_melanoma	Substitution - Missense
c.2991G>A; p.S997S; 5:76671906-76671906	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1910G>A; p.G637E; 5:76637163-76637163	skin	malignant_melanoma	Substitution - Missense
c.4435G>T; p.V1479L; 5:76701143-76701143	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2983G>A; p.D995N; 5:76671898-76671898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1904T>C; p.L635P; 5:76637157-76637157	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3266C>T; p.P1089L; 5:76674008-76674008	skin	malignant_melanoma	Substitution - Missense
c.3824A>G; p.K1275R; 5:76683836-76683836	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4144G>A; p.E1382K; 5:76695604-76695604	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1920C>T; p.I640I; 5:76637173-76637173	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2853G>A; p.V951V; 5:76671768-76671768	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.772G>A; p.E258K; 5:76590539-76590539	skin	malignant_melanoma	Substitution - Missense
c.2472C>T; p.D824D; 5:76658610-76658610	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.316C>T; p.H106Y; 5:76570592-76570592	skin	malignant_melanoma	Substitution - Missense
c.1192G>A; p.A398T; 5:76600932-76600932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3243G>A; p.K1081K; 5:76673985-76673985	breast	carcinoma	Substitution - coding silent
c.1192G>A; p.A398T; 5:76600932-76600932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3547T>G; p.C1183G; 5:76677237-76677237	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1296C>A; p.S432R; 5:76606242-76606242	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.595_596insA; p.I199fs*8; 5:76589683-76589684	bone; femur	chondrosarcoma	Insertion - Frameshift
c.3907A>G; p.T1303A; 5:76693356-76693356	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2945G>A; p.R982H; 5:76671860-76671860	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2945G>A; p.R982H; 5:76671860-76671860	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3451A>G; p.N1151D; 5:76674633-76674633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4565G>C; p.R1522T; 5:76702541-76702541	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3889C>G; p.R1297G; 5:76683901-76683901	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3052C>T; p.Q1018*; 5:76671967-76671967	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.450C>T; p.H150H; 5:76575761-76575761	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3632C>T; p.S1211L; 5:76677322-76677322	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.613A>G; p.N205D; 5:76589701-76589701	liver	carcinoma	Substitution - Missense
c.613A>G; p.N205D; 5:76589701-76589701	liver	carcinoma	Substitution - Missense
c.222C>T; p.Y74Y; 5:76562471-76562471	liver	carcinoma	Substitution - coding silent
c.1880C>T; p.S627L; 5:76637133-76637133	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3268G>A; p.D1090N; 5:76674010-76674010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1880C>T; p.S627L; 5:76637133-76637133	skin	malignant_melanoma	Substitution - Missense
c.4409C>A; p.P1470H; 5:76701117-76701117	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.4409C>A; p.P1470H; 5:76701117-76701117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2452A>G; p.N818D; 5:76658590-76658590	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4397G>C; p.G1466A; 5:76701105-76701105	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.322C>T; p.R108*; 5:76570598-76570598	skin	malignant_melanoma	Substitution - Nonsense
c.2416C>T; p.R806*; 5:76658554-76658554	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.147-6C>T; p.?; 5:76562390-76562390	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2810A>G; p.K937R; 5:76668811-76668811	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3236T>A; p.V1079E; 5:76673978-76673978	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.772G>T; p.E258*; 5:76590539-76590539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2119C>T; p.R707W; 5:76652774-76652774	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1086C>T; p.H362H; 5:76600826-76600826	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.470T>C; p.F157S; 5:76588917-76588917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.845G>A; p.R282K; 5:76592863-76592863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1709A>G; p.D570G; 5:76631955-76631955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1621C>T; p.L541L; 5:76631867-76631867	skin	malignant_melanoma	Substitution - coding silent
c.1013C>T; p.P338L; 5:76597544-76597544	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.102G>T; p.Q34H; 5:76461625-76461625	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4106_4108delAGA; p.K1371delK; 5:76695566-76695568	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2353C>T; p.R785C; 5:76658491-76658491	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2353C>T; p.R785C; 5:76658491-76658491	skin	malignant_melanoma	Substitution - Missense
c.937G>A; p.V313I; 5:76597468-76597468	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.907+1G>A; p.?; 5:76592926-76592926	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2353C>T; p.R785C; 5:76658491-76658491	skin	malignant_melanoma	Substitution - Missense
c.3581T>C; p.M1194T; 5:76677271-76677271	large_intestine; colon	adenoma	Substitution - Missense
c.338C>T; p.T113I; 5:76570614-76570614	skin	malignant_melanoma	Substitution - Missense
c.2353C>T; p.R785C; 5:76658491-76658491	skin	malignant_melanoma	Substitution - Missense
c.1246C>G; p.L416V; 5:76606192-76606192	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1651G>T; p.G551*; 5:76631897-76631897	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2141_2142GG>AA; p.R714Q; 5:76652796-76652797	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2394C>T; p.F798F; 5:76658532-76658532	skin	malignant_melanoma	Substitution - coding silent
c.4576C>A; p.L1526I; 5:76702552-76702552	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3174C>A; p.V1058V; 5:76673554-76673554	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4317C>T; p.I1439I; 5:76698097-76698097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4025G>A; p.R1342H; 5:76695485-76695485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3535T>G; p.F1179V; 5:76677225-76677225	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.741G>A; p.V247V; 5:76590508-76590508	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2293A>C; p.K765Q; 5:76654976-76654976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3640G>T; p.E1214*; 5:76677330-76677330	breast	carcinoma	Substitution - Nonsense
c.3836C>T; p.S1279F; 5:76683848-76683848	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3595G>A; p.D1199N; 5:76677285-76677285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3320G>C; p.R1107P; 5:76674502-76674502	skin	malignant_melanoma	Substitution - Missense
c.2854G>A; p.D952N; 5:76671769-76671769	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2794G>T; p.E932*; 5:76668795-76668795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4721G>A; p.G1574E; 5:76707306-76707306	skin	malignant_melanoma	Substitution - Missense
c.3368A>G; p.D1123G; 5:76674550-76674550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.935C>T; p.A312V; 5:76597466-76597466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3990A>G; p.Q1330Q; 5:76693439-76693439	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4166C>T; p.S1389F; 5:76695626-76695626	skin	malignant_melanoma	Substitution - Missense
c.2564A>C; p.K855T; 5:76665060-76665060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2413G>T; p.A805S; 5:76658551-76658551	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2930G>A; p.G977E; 5:76671845-76671845	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2684A>G; p.N895S; 5:76668685-76668685	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2296G>A; p.A766T; 5:76654979-76654979	skin	malignant_melanoma	Substitution - Missense
c.1612+4A>C; p.?; 5:76627504-76627504	liver	carcinoma	Unknown
c.688G>T; p.A230S; 5:76590455-76590455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3720G>T; p.L1240F; 5:76683174-76683174	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1166C>T; p.S389F; 5:76600906-76600906	breast	carcinoma	Substitution - Missense
c.965C>T; p.T322M; 5:76597496-76597496	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.441T>C; p.Y147Y; 5:76575752-76575752	breast	carcinoma	Substitution - coding silent
c.1957C>T; p.R653C; 5:76640966-76640966	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4158C>T; p.H1386H; 5:76695618-76695618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4433C>A; p.P1478Q; 5:76701141-76701141	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4158C>T; p.H1386H; 5:76695618-76695618	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.4158C>T; p.H1386H; 5:76695618-76695618	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.883C>T; p.Q295*; 5:76592901-76592901	skin	malignant_melanoma	Substitution - Nonsense
c.4261C>T; p.L1421F; 5:76698041-76698041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3513G>A; p.T1171T; 5:76674695-76674695	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.533A>G; p.E178G; 5:76589621-76589621	salivary_gland; parotid	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.4312C>T; p.Q1438*; 5:76698092-76698092	breast	carcinoma	Substitution - Nonsense
c.652G>T; p.V218F; 5:76590419-76590419	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1000C>T; p.P334S; 5:76597531-76597531	skin	malignant_melanoma	Substitution - Missense
c.3400C>T; p.Q1134*; 5:76674582-76674582	skin	malignant_melanoma	Substitution - Nonsense
c.2054C>T; p.S685L; 5:76641063-76641063	skin	malignant_melanoma	Substitution - Missense
c.79G>A; p.E27K; 5:76461602-76461602	skin	malignant_melanoma	Substitution - Missense
c.98G>T; p.R33L; 5:76461621-76461621	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.G228E; 5:76590450-76590450	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4505+2T>C; p.?; 5:76701215-76701215	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.79G>A; p.E27K; 5:76461602-76461602	skin	malignant_melanoma	Substitution - Missense
c.2389G>A; p.D797N; 5:76658527-76658527	skin	malignant_melanoma	Substitution - Missense
c.4214G>A; p.R1405Q; 5:76697994-76697994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2855A>G; p.D952G; 5:76671770-76671770	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.273G>T; p.K91N; 5:76562522-76562522	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2855A>G; p.D952G; 5:76671770-76671770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1082C>T; p.A361V; 5:76600822-76600822	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3868G>A; p.D1290N; 5:76683880-76683880	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4275G>C; p.L1425L; 5:76698055-76698055	breast	carcinoma	Substitution - coding silent
c.143A>G; p.K48R; 5:76461666-76461666	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3191C>A; p.S1064Y; 5:76673571-76673571	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2265G>A; p.V755V; 5:76654948-76654948	skin	malignant_melanoma	Substitution - coding silent
c.3868G>T; p.D1290Y; 5:76683880-76683880	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1038C>T; p.N346N; 5:76597569-76597569	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1357+1G>A; p.?; 5:76606304-76606304	urinary_tract; bladder	carcinoma	Unknown
c.2788C>T; p.R930*; 5:76668789-76668789	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2788C>T; p.R930*; 5:76668789-76668789	oesophagus	carcinoma	Substitution - Nonsense
c.2815T>G; p.F939V; 5:76668816-76668816	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2194C>T; p.R732*; 5:76654215-76654215	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4221A>G; p.Q1407Q; 5:76698001-76698001	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3485C>T; p.S1162L; 5:76674667-76674667	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.563A>C; p.K188T; 5:76589651-76589651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2094G>T; p.Q698H; 5:76641103-76641103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2628G>A; p.K876K; 5:76665124-76665124	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1156G>A; p.D386N; 5:76600896-76600896	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1652G>A; p.G551E; 5:76631898-76631898	skin	malignant_melanoma	Substitution - Missense
c.2840T>C; p.I947T; 5:76668841-76668841	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2480T>G; p.L827R; 5:76658618-76658618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.342C>G; p.V114V; 5:76570618-76570618	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3467G>A; p.G1156E; 5:76674649-76674649	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1336C>T; p.Q446*; 5:76606282-76606282	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.251C>T; p.P84L; 5:76562500-76562500	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4294G>A; p.A1432T; 5:76698074-76698074	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4653G>A; p.M1551I; 5:76707238-76707238	skin	malignant_melanoma	Substitution - Missense
c.4213C>A; p.R1405R; 5:76697993-76697993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2570G>A; p.G857E; 5:76665066-76665066	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4231C>T; p.R1411C; 5:76698011-76698011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4231C>T; p.R1411C; 5:76698011-76698011	skin	malignant_melanoma	Substitution - Missense
c.4231C>T; p.R1411C; 5:76698011-76698011	skin	malignant_melanoma	Substitution - Missense
c.4231C>T; p.R1411C; 5:76698011-76698011	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1588G>A; p.V530M; 5:76627476-76627476	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.4140G>T; p.T1380T; 5:76695600-76695600	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.3924T>C; p.I1308I; 5:76693373-76693373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3363C>A; p.I1121I; 5:76674545-76674545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.612C>G; p.A204A; 5:76589700-76589700	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.57C>T; p.D19D; 5:76461580-76461580	breast	carcinoma	Substitution - coding silent
c.330A>G; p.T110T; 5:76570606-76570606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2629G>A; p.E877K; 5:76665125-76665125	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1270T>G; p.L424V; 5:76606216-76606216	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1792G>A; p.G598S; 5:76637045-76637045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.71C>G; p.S24C; 5:76461594-76461594	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1321G>T; p.D441Y; 5:76606267-76606267	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.447T>C; p.I149I; 5:76575758-76575758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.742G>A; p.D248N; 5:76590509-76590509	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.700G>A; p.V234I; 5:76590467-76590467	pancreas	carcinoma	Substitution - Missense
c.2189G>T; p.W730L; 5:76654210-76654210	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3747C>T; p.T1249T; 5:76683201-76683201	liver	carcinoma	Substitution - coding silent
c.3747C>T; p.T1249T; 5:76683201-76683201	liver	carcinoma	Substitution - coding silent
c.1613G>T; p.W538L; 5:76631859-76631859	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2789G>T; p.R930L; 5:76668790-76668790	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3280G>A; p.D1094N; 5:76674022-76674022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1521+1G>T; p.?; 5:76611184-76611184	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.681A>G; p.K227K; 5:76590448-76590448	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.802G>A; p.E268K; 5:76590569-76590569	skin	malignant_melanoma	Substitution - Missense
c.303+1G>A; p.?; 5:76562553-76562553	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.4168G>A; p.E1390K; 5:76695628-76695628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4306G>A; p.E1436K; 5:76698086-76698086	skin	malignant_melanoma	Substitution - Missense
c.3082G>A; p.D1028N; 5:76673462-76673462	urinary_tract; bladder	carcinoma	Substitution - Missense
c.719C>T; p.P240L; 5:76590486-76590486	skin	malignant_melanoma	Substitution - Missense
c.3791C>A; p.P1264H; 5:76683803-76683803	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.621G>T; p.L207L; 5:76589709-76589709	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.1124T>C; p.V375A; 5:76600864-76600864	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.340G>A; p.V114I; 5:76570616-76570616	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1903C>A; p.L635I; 5:76637156-76637156	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2656C>T; p.Q886*; 5:76665152-76665152	skin	malignant_melanoma	Substitution - Nonsense
c.2529+6T>C; p.?; 5:76658673-76658673	stomach	adenocarcinoma	Unknown
c.3778G>A; p.D1260N; 5:76683790-76683790	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4426G>A; p.A1476T; 5:76701134-76701134	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4167C>T; p.S1389S; 5:76695627-76695627	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1636A>C; p.N546H; 5:76631882-76631882	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4167C>T; p.S1389S; 5:76695627-76695627	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2253T>C; p.N751N; 5:76654936-76654936	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.553G>T; p.E185*; 5:76589641-76589641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.359T>C; p.M120T; 5:76570635-76570635	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3923T>C; p.I1308T; 5:76693372-76693372	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.65G>A; p.R22K; 5:76461588-76461588	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3441C>T; p.H1147H; 5:76674623-76674623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3008A>C; p.N1003T; 5:76671923-76671923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3175C>T; p.L1059L; 5:76673555-76673555	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.859G>A; p.E287K; 5:76592877-76592877	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4399A>G; p.K1467E; 5:76701107-76701107	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4399A>G; p.K1467E; 5:76701107-76701107	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.304-1G>C; p.?; 5:76570579-76570579	large_intestine; rectum	NS	Unknown
c.58G>A; p.D20N; 5:76461581-76461581	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.111delT; p.Y38fs*7; 5:76461634-76461634	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.58G>A; p.D20N; 5:76461581-76461581	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3670G>A; p.E1224K; 5:76683124-76683124	skin	malignant_melanoma	Substitution - Missense
c.3758T>G; p.F1253C; 5:76683212-76683212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3987G>A; p.A1329A; 5:76693436-76693436	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.621G>A; p.L207L; 5:76589709-76589709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2074G>A; p.E692K; 5:76641083-76641083	skin	malignant_melanoma	Substitution - Missense
c.296G>A; p.R99H; 5:76562545-76562545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2237A>G; p.Y746C; 5:76654258-76654258	liver	carcinoma	Substitution - Missense
c.2640A>T; p.K880N; 5:76665136-76665136	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.343C>T; p.Q115*; 5:76570619-76570619	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.343C>T; p.Q115*; 5:76570619-76570619	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.360G>T; p.M120I; 5:76570636-76570636	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4607A>G; p.N1536S; 5:76702583-76702583	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1436C>G; p.P479R; 5:76611098-76611098	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1718C>T; p.P573L; 5:76631964-76631964	breast	carcinoma	Substitution - Missense
c.2343A>G; p.L781L; 5:76658481-76658481	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4397G>T; p.G1466V; 5:76701105-76701105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3481C>T; p.L1161F; 5:76674663-76674663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2846C>A; p.S949*; 5:76671761-76671761	breast	carcinoma	Substitution - Nonsense
c.2447G>T; p.R816M; 5:76658585-76658585	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3481C>T; p.L1161F; 5:76674663-76674663	breast	carcinoma	Substitution - Missense
c.3864A>T; p.I1288I; 5:76683876-76683876	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3890G>A; p.R1297Q; 5:76683902-76683902	skin	malignant_melanoma	Substitution - Missense
c.1746C>T; p.A582A; 5:76631992-76631992	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1143C>G; p.A381A; 5:76600883-76600883	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4208A>G; p.D1403G; 5:76697988-76697988	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4345T>C; p.C1449R; 5:76698125-76698125	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4345T>C; p.C1449R; 5:76698125-76698125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3151C>T; p.L1051L; 5:76673531-76673531	skin	malignant_melanoma	Substitution - coding silent
c.1761A>T; p.K587N; 5:76632007-76632007	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.682G>C; p.G228R; 5:76590449-76590449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3442G>A; p.A1148T; 5:76674624-76674624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.914C>A; p.A305D; 5:76597445-76597445	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4367A>C; p.K1456T; 5:76698147-76698147	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.295C>G; p.R99G; 5:76562544-76562544	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4364G>T; p.R1455I; 5:76698144-76698144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3930G>T; p.V1310V; 5:76693379-76693379	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3096A>C; p.E1032D; 5:76673476-76673476	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.50T>A; p.I17N; 5:76461573-76461573	breast	carcinoma	Substitution - Missense
c.4364G>T; p.R1455I; 5:76698144-76698144	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1183A>T; p.R395*; 5:76600923-76600923	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.323G>A; p.R108Q; 5:76570599-76570599	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.323G>A; p.R108Q; 5:76570599-76570599	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4396G>T; p.G1466*; 5:76701104-76701104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4396G>T; p.G1466*; 5:76701104-76701104	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4396G>T; p.G1466*; 5:76701104-76701104	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.867G>A; p.L289L; 5:76592885-76592885	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3382G>A; p.G1128S; 5:76674564-76674564	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.2561A>T; p.K854M; 5:76665057-76665057	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1793G>C; p.G598A; 5:76637046-76637046	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2321-1G>A; p.?; 5:76658458-76658458	skin	malignant_melanoma	Unknown
c.1887G>C; p.L629F; 5:76637140-76637140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.966G>A; p.T322T; 5:76597497-76597497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4603C>G; p.L1535V; 5:76702579-76702579	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2170A>G; p.I724V; 5:76652825-76652825	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3986C>G; p.A1329G; 5:76693435-76693435	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2807T>G; p.L936R; 5:76668808-76668808	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.139G>T; p.A47S; 5:76461662-76461662	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2170A>G; p.I724V; 5:76652825-76652825	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1921G>C; p.E641Q; 5:76637174-76637174	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3248C>T; p.S1083L; 5:76673990-76673990	breast	carcinoma	Substitution - Missense
c.2022C>A; p.P674P; 5:76641031-76641031	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4240C>T; p.R1414*; 5:76698020-76698020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3248C>T; p.S1083L; 5:76673990-76673990	skin	malignant_melanoma	Substitution - Missense
c.415C>T; p.R139W; 5:76575726-76575726	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2411T>C; p.V804A; 5:76658549-76658549	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1305A>C; p.E435D; 5:76606251-76606251	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1118C>T; p.S373F; 5:76600858-76600858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4557C>T; p.F1519F; 5:76702533-76702533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2067A>G; p.E689E; 5:76641076-76641076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1572C>T; p.A524A; 5:76627460-76627460	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4489G>A; p.D1497N; 5:76701197-76701197	skin	malignant_melanoma	Substitution - Missense
c.1575C>T; p.V525V; 5:76627463-76627463	NS	NS	Substitution - coding silent
c.2309A>G; p.Y770C; 5:76654992-76654992	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1026C>T; p.A342A; 5:76597557-76597557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1039G>A; p.E347K; 5:76597570-76597570	skin	malignant_melanoma	Substitution - Missense
c.1039G>A; p.E347K; 5:76597570-76597570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3633A>G; p.S1211S; 5:76677323-76677323	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2433A>G; p.V811V; 5:76658571-76658571	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3155G>T; p.R1052I; 5:76673535-76673535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3397G>A; p.D1133N; 5:76674579-76674579	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1307T>C; p.I436T; 5:76606253-76606253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4379G>T; p.R1460I; 5:76701087-76701087	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.462G>A; p.L154L; 5:76588909-76588909	thyroid	other; neoplasm	Substitution - coding silent
c.4459C>T; p.H1487Y; 5:76701167-76701167	breast	carcinoma	Substitution - Missense
c.1354G>A; p.D452N; 5:76606300-76606300	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1303G>A; p.E435K; 5:76606249-76606249	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2833G>A; p.E945K; 5:76668834-76668834	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3600G>C; p.L1200L; 5:76677290-76677290	lung	carcinoma; adenocarcinoma	Substitution - coding silent

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]