Entrez Gene

Basic Information
Gene ID	3679
Name	ITGA7
Synonymous	integrin, alpha 7;ITGA7;integrin, alpha 7
Definition	integrin alpha 7 chain\|integrin alpha-7
Position	12q13
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 0.07.

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.1558C>T; p.P520S; 12:55697225-55697225	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2196+3G>C; p.?; 12:55694775-55694775	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2689C>T; p.P897S; 12:55693164-55693164	skin	malignant_melanoma	Substitution - Missense
c.1317C>T; p.F439F; 12:55697787-55697787	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - coding silent
c.1562C>A; p.T521N; 12:55697221-55697221	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2910G>A; p.A970A; 12:55688892-55688892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3366G>A; p.G1122G; 12:55685106-55685106	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1273C>A; p.P425T; 12:55697946-55697946	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.505G>A; p.D169N; 12:55701064-55701064	skin	malignant_melanoma	Substitution - Missense
c.3094G>A; p.V1032M; 12:55688060-55688060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1132G>A; p.D378N; 12:55698443-55698443	ovary	other; neoplasm	Substitution - Missense
c.861C>A; p.R287R; 12:55698847-55698847	skin	malignant_melanoma	Substitution - coding silent
c.1983G>A; p.T661T; 12:55695542-55695542	skin	malignant_melanoma	Substitution - coding silent
c.2251G>A; p.G751R; 12:55694641-55694641	skin	malignant_melanoma	Substitution - Missense
c.1642C>T; p.R548C; 12:55696994-55696994	skin	malignant_melanoma	Substitution - Missense
c.2392C>T; p.R798*; 12:55694296-55694296	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.598G>A; p.G200S; 12:55700971-55700971	skin	malignant_melanoma	Substitution - Missense
c.810G>A; p.G270G; 12:55698898-55698898	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.57delT; p.F19fs*20; 12:55707626-55707626	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2655C>T; p.G885G; 12:55693198-55693198	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2655C>T; p.G885G; 12:55693198-55693198	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2757T>C; p.P919P; 12:55692931-55692931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1040G>A; p.R347H; 12:55698535-55698535	breast	carcinoma	Substitution - Missense
c.859C>T; p.R287C; 12:55698849-55698849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>A; p.R347H; 12:55698535-55698535	large_intestine; colon	carcinoma	Substitution - Missense
c.824G>A; p.R275H; 12:55698884-55698884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>A; p.R347H; 12:55698535-55698535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>A; p.R347H; 12:55698535-55698535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>A; p.R347H; 12:55698535-55698535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2706C>T; p.L902L; 12:55693147-55693147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2926T>A; p.W976R; 12:55688876-55688876	ovary	other; neoplasm	Substitution - Missense
c.2180G>A; p.R727Q; 12:55694794-55694794	pancreas	carcinoma	Substitution - Missense
c.230C>T; p.A77V; 12:55703155-55703155	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.255G>A; p.A85A; 12:55703130-55703130	breast	carcinoma	Substitution - coding silent
c.255G>A; p.A85A; 12:55703130-55703130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3385G>A; p.D1129N; 12:55685087-55685087	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.248A>T; p.Q83L; 12:55703137-55703137	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2470G>T; p.V824L; 12:55694086-55694086	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.859delC; p.R287fs*30; 12:55698849-55698849	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2556G>A; p.S852S; 12:55693297-55693297	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1501G>T; p.V501F; 12:55697455-55697455	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1710C>A; p.V570V; 12:55696926-55696926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1464C>T; p.I488I; 12:55697492-55697492	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2842C>A; p.L948M; 12:55692846-55692846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>T; p.G264C; 12:55699870-55699870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1115G>T; p.R372L; 12:55698460-55698460	NS	malignant_melanoma	Substitution - Missense
c.2727G>A; p.R909R; 12:55692961-55692961	skin	malignant_melanoma	Substitution - coding silent
c.254C>T; p.A85V; 12:55703131-55703131	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.311A>G; p.Y104C; 12:55703074-55703074	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1115G>T; p.R372L; 12:55698460-55698460	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2727G>A; p.R909R; 12:55692961-55692961	skin; arm	malignant_melanoma	Substitution - coding silent
c.3124C>T; p.L1042F; 12:55688030-55688030	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1622C>T; p.P541L; 12:55697014-55697014	skin	malignant_melanoma	Substitution - Missense
c.1310A>C; p.K437T; 12:55697794-55697794	thyroid	carcinoma	Substitution - Missense
c.2139C>A; p.L713L; 12:55694835-55694835	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.227A>T; p.Q76L; 12:55703158-55703158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1045G>T; p.E349*; 12:55698530-55698530	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.331G>A; p.G111R; 12:55703054-55703054	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2135A>T; p.Q712L; 12:55694839-55694839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3336G>A; p.P1112P; 12:55685136-55685136	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.921C>T; p.P307P; 12:55698787-55698787	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3096G>A; p.V1032V; 12:55688058-55688058	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.2566C>T; p.L856L; 12:55693287-55693287	skin	malignant_melanoma	Substitution - coding silent
c.2433-2A>G; p.?; 12:55694125-55694125	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2680C>T; p.L894F; 12:55693173-55693173	pancreas	carcinoma	Substitution - Missense
c.911G>A; p.R304H; 12:55698797-55698797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>A; p.G451R; 12:55697753-55697753	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2257_2258CC>TT; p.P753F; 12:55694634-55694635	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1351G>A; p.G451R; 12:55697753-55697753	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3225G>T; p.V1075V; 12:55685247-55685247	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1267G>A; p.A423T; 12:55697952-55697952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1039C>T; p.R347C; 12:55698536-55698536	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.458T>A; p.I153N; 12:55701111-55701111	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.583G>A; p.G195R; 12:55700986-55700986	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1499C>T; p.S500L; 12:55697457-55697457	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1828G>A; p.G610R; 12:55696342-55696342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3150G>C; p.L1050L; 12:55688004-55688004	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.520G>A; p.D174N; 12:55701049-55701049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1675G>A; p.G559S; 12:55696961-55696961	skin	malignant_melanoma	Substitution - Missense
c.2122G>A; p.A708T; 12:55694852-55694852	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2666C>A; p.P889H; 12:55693187-55693187	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2898C>A; p.S966R; 12:55688904-55688904	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2424C>T; p.S808S; 12:55694264-55694264	skin	malignant_melanoma	Substitution - coding silent
c.2902G>C; p.D968H; 12:55688900-55688900	breast	carcinoma	Substitution - Missense
c.97G>A; p.A33T; 12:55707586-55707586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1540G>A; p.V514I; 12:55697243-55697243	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3018C>G; p.S1006S; 12:55688241-55688241	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3180G>A; p.W1060*; 12:55687974-55687974	skin	malignant_melanoma	Substitution - Nonsense
c.812A>G; p.K271R; 12:55698896-55698896	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1274C>T; p.P425L; 12:55697945-55697945	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3312G>T; p.W1104C; 12:55685160-55685160	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2040T>G; p.S680R; 12:55694934-55694934	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3409G>A; p.A1137T; 12:55685063-55685063	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2195C>T; p.A732V; 12:55694779-55694779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2195C>T; p.A732V; 12:55694779-55694779	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.3409G>A; p.A1137T; 12:55685063-55685063	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3409G>A; p.A1137T; 12:55685063-55685063	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3157G>A; p.A1053T; 12:55687997-55687997	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1085G>A; p.G362E; 12:55698490-55698490	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1294G>A; p.E432K; 12:55697810-55697810	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.861C>T; p.R287R; 12:55698847-55698847	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.861C>T; p.R287R; 12:55698847-55698847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.671-1G>A; p.?; 12:55699990-55699990	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2423C>T; p.S808F; 12:55694265-55694265	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3235C>T; p.H1079Y; 12:55685237-55685237	skin	malignant_melanoma	Substitution - Missense
c.2535+1G>A; p.?; 12:55694020-55694020	skin; trunk	malignant_melanoma; nodular	Unknown
c.3235C>T; p.H1079Y; 12:55685237-55685237	skin	malignant_melanoma	Substitution - Missense
c.1794G>T; p.Q598H; 12:55696376-55696376	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.364C>T; p.Q122*; 12:55702922-55702922	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2930G>A; p.G977D; 12:55688872-55688872	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.314G>A; p.R105K; 12:55703071-55703071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1389T>C; p.A463A; 12:55697715-55697715	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2959G>A; p.E987K; 12:55688300-55688300	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2573C>T; p.S858F; 12:55693280-55693280	skin	malignant_melanoma	Substitution - Missense
c.859_860insC; p.R287fs*42; 12:55698848-55698849	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.2155G>A; p.D719N; 12:55694819-55694819	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.904G>A; p.A302T; 12:55698804-55698804	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.862G>A; p.A288T; 12:55698846-55698846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2155G>A; p.D719N; 12:55694819-55694819	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.2644G>A; p.E882K; 12:55693209-55693209	skin	malignant_melanoma	Substitution - Missense
c.186G>A; p.L62L; 12:55707497-55707497	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2580C>A; p.F860L; 12:55693273-55693273	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2791A>C; p.S931R; 12:55692897-55692897	breast	carcinoma	Substitution - Missense
c.2190C>T; p.D730D; 12:55694784-55694784	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1375G>A; p.V459M; 12:55697729-55697729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.634C>G; p.L212V; 12:55700935-55700935	skin	malignant_melanoma	Substitution - Missense
c.1137C>T; p.S379S; 12:55698438-55698438	skin	malignant_melanoma	Substitution - coding silent
c.385C>T; p.R129W; 12:55702901-55702901	skin	malignant_melanoma	Substitution - Missense
c.3155T>A; p.L1052Q; 12:55687999-55687999	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.385C>T; p.R129W; 12:55702901-55702901	skin	malignant_melanoma	Substitution - Missense
c.2270G>A; p.G757D; 12:55694622-55694622	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.385C>T; p.R129W; 12:55702901-55702901	breast	carcinoma	Substitution - Missense
c.2961G>T; p.E987D; 12:55688298-55688298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2850C>T; p.C950C; 12:55688952-55688952	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3133G>A; p.V1045I; 12:55688021-55688021	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.72C>G; p.V24V; 12:55707611-55707611	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1003C>T; p.P335S; 12:55698572-55698572	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1221T>G; p.G407G; 12:55697998-55697998	breast	carcinoma	Substitution - coding silent
c.3352C>A; p.L1118M; 12:55685120-55685120	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2653G>A; p.G885S; 12:55693200-55693200	skin	malignant_melanoma	Substitution - Missense
c.610G>T; p.A204S; 12:55700959-55700959	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3250C>T; p.P1084S; 12:55685222-55685222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1464C>A; p.I488I; 12:55697492-55697492	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2851G>A; p.A951T; 12:55688951-55688951	pancreas	carcinoma	Substitution - Missense
c.1903C>A; p.Q635K; 12:55695622-55695622	liver	carcinoma	Substitution - Missense
c.3333C>T; p.G1111G; 12:55685139-55685139	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.954C>T; p.S318S; 12:55698754-55698754	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1871G>T; p.S624I; 12:55696299-55696299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1144G>A; p.G382R; 12:55698431-55698431	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1722C>T; p.A574A; 12:55696914-55696914	skin	malignant_melanoma	Substitution - coding silent
c.2799C>T; p.S933S; 12:55692889-55692889	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1952G>A; p.R651H; 12:55695573-55695573	thyroid	other; neoplasm	Substitution - Missense
c.1952G>A; p.R651H; 12:55695573-55695573	thyroid	other; neoplasm	Substitution - Missense
c.2371G>A; p.E791K; 12:55694317-55694317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1671C>T; p.A557A; 12:55696965-55696965	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1671C>T; p.A557A; 12:55696965-55696965	skin	malignant_melanoma	Substitution - coding silent
c.1465G>A; p.D489N; 12:55697491-55697491	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1465G>A; p.D489N; 12:55697491-55697491	breast	carcinoma	Substitution - Missense
c.401G>T; p.G134V; 12:55702885-55702885	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2233C>T; p.H745Y; 12:55694659-55694659	skin; arm	malignant_melanoma	Substitution - Missense
c.2555C>T; p.S852L; 12:55693298-55693298	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1954G>T; p.A652S; 12:55695571-55695571	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1192G>T; p.D398Y; 12:55698383-55698383	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.440G>C; p.R147T; 12:55701129-55701129	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1902G>T; p.K634N; 12:55695623-55695623	skin	malignant_melanoma	Substitution - Missense
c.3302G>T; p.R1101M; 12:55685170-55685170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3202G>A; p.A1068T; 12:55685270-55685270	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2328G>A; p.T776T; 12:55694472-55694472	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2328G>A; p.T776T; 12:55694472-55694472	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2393G>A; p.R798Q; 12:55694295-55694295	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2393G>A; p.R798Q; 12:55694295-55694295	pancreas	carcinoma	Substitution - Missense
c.2393G>A; p.R798Q; 12:55694295-55694295	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1123G>T; p.G375C; 12:55698452-55698452	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3372C>T; p.P1124P; 12:55685100-55685100	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.807G>C; p.S269S; 12:55698901-55698901	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3334C>T; p.P1112S; 12:55685138-55685138	skin; extremity	malignant_melanoma	Substitution - Missense
c.2501G>T; p.R834L; 12:55694055-55694055	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2743G>A; p.E915K; 12:55692945-55692945	skin	malignant_melanoma	Substitution - Missense
c.92C>A; p.A31D; 12:55707591-55707591	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.24C>T; p.D8D; 12:55707659-55707659	skin	malignant_melanoma	Substitution - coding silent
c.1572G>A; p.L524L; 12:55697064-55697064	liver	carcinoma	Substitution - coding silent
c.442C>T; p.Q148*; 12:55701127-55701127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1378G>A; p.G460S; 12:55697726-55697726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1559C>A; p.P520H; 12:55697224-55697224	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1559C>A; p.P520H; 12:55697224-55697224	large_intestine; colon	carcinoma	Substitution - Missense
c.1559C>A; p.P520H; 12:55697224-55697224	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1572G>A; p.L524L; 12:55697064-55697064	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2005G>A; p.D669N; 12:55694969-55694969	skin	malignant_melanoma	Substitution - Missense
c.619C>T; p.P207S; 12:55700950-55700950	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2191C>T; p.P731S; 12:55694783-55694783	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2187G>A; p.L729L; 12:55694787-55694787	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1698G>A; p.Q566Q; 12:55696938-55696938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.892C>T; p.R298C; 12:55698816-55698816	liver	carcinoma	Substitution - Missense
c.1331C>T; p.S444L; 12:55697773-55697773	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.360G>T; p.E120D; 12:55702926-55702926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3212C>T; p.P1071L; 12:55685260-55685260	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2310G>A; p.G770G; 12:55694490-55694490	skin	malignant_melanoma	Substitution - coding silent
c.2908G>A; p.A970T; 12:55688894-55688894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.236C>A; p.A79D; 12:55703149-55703149	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3208C>T; p.H1070Y; 12:55685264-55685264	breast	carcinoma	Substitution - Missense
c.2654G>A; p.G885D; 12:55693199-55693199	skin	malignant_melanoma	Substitution - Missense
c.2535G>A; p.T845T; 12:55694021-55694021	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.428G>A; p.R143Q; 12:55701141-55701141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.81C>G; p.L27L; 12:55707602-55707602	pancreas	carcinoma	Substitution - coding silent
c.2535G>A; p.T845T; 12:55694021-55694021	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.428G>A; p.R143Q; 12:55701141-55701141	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.107T>C; p.L36P; 12:55707576-55707576	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.922G>A; p.E308K; 12:55698786-55698786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.922G>A; p.E308K; 12:55698786-55698786	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.922G>A; p.E308K; 12:55698786-55698786	pancreas	carcinoma	Substitution - Missense
c.807G>A; p.S269S; 12:55698901-55698901	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2296C>T; p.L766F; 12:55694504-55694504	skin	malignant_melanoma	Substitution - Missense
c.2309G>A; p.G770E; 12:55694491-55694491	liver	carcinoma	Substitution - Missense
c.2612A>G; p.N871S; 12:55693241-55693241	skin	malignant_melanoma	Substitution - Missense
c.1860C>T; p.A620A; 12:55696310-55696310	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1654G>T; p.E552*; 12:55696982-55696982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3150delG; p.V1051fs*2; 12:55688004-55688004	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1714G>A; p.G572R; 12:55696922-55696922	skin	malignant_melanoma	Substitution - Missense
c.2343G>A; p.E781E; 12:55694457-55694457	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108C>T; p.P370S; 12:55698467-55698467	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2119G>A; p.D707N; 12:55694855-55694855	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3313G>A; p.G1105S; 12:55685159-55685159	soft_tissue; striated_muscle	rhabdomyosarcoma; sclerosing	Substitution - Missense
c.1888-10C>A; p.?; 12:55695647-55695647	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1344T>C; p.D448D; 12:55697760-55697760	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2932C>A; p.R978S; 12:55688870-55688870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.538G>A; p.E180K; 12:55701031-55701031	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.28T>A; p.W10R; 12:55707655-55707655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3133G>T; p.V1045L; 12:55688021-55688021	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2953C>A; p.L985M; 12:55688849-55688849	skin	malignant_melanoma	Substitution - Missense
c.3204G>A; p.A1068A; 12:55685268-55685268	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3204G>A; p.A1068A; 12:55685268-55685268	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3325C>T; p.R1109W; 12:55685147-55685147	prostate	carcinoma	Substitution - Missense
c.3325C>T; p.R1109W; 12:55685147-55685147	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1992A>G; p.Q664Q; 12:55695533-55695533	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.495G>A; p.V165V; 12:55701074-55701074	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1006G>T; p.D336Y; 12:55698569-55698569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2023G>T; p.A675S; 12:55694951-55694951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.644G>A; p.G215E; 12:55700925-55700925	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1143C>T; p.F381F; 12:55698432-55698432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1143C>T; p.F381F; 12:55698432-55698432	skin	malignant_melanoma	Substitution - coding silent
c.671-7C>A; p.?; 12:55699996-55699996	liver	carcinoma	Unknown
c.1465G>T; p.D489Y; 12:55697491-55697491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.671-7C>A; p.?; 12:55699996-55699996	liver	carcinoma	Unknown
c.446G>A; p.R149Q; 12:55701123-55701123	skin	malignant_melanoma	Substitution - Missense
c.64_65insC; p.L22fs*81; 12:55707618-55707619	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1734C>T; p.L578L; 12:55696902-55696902	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1045G>A; p.E349K; 12:55698530-55698530	skin	malignant_melanoma	Substitution - Missense
c.1426C>A; p.H476N; 12:55697530-55697530	large_intestine; colon	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]