Entrez Gene

Basic Information
Gene ID	22925
Name	PLA2R1
Synonymous	phospholipase A2 receptor 1, 180kDa;PLA2R1;phospholipase A2 receptor 1, 180kDa
Definition	180 kDa secretory phospholipase A2 receptor\|C-type lectin domain family 13 member C\|M-type receptor\|phospholipase A2 receptor 1, 180kD\|secretory phospholipase A2 receptor
Position	2q23-q24
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 0.10.

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.1207C>T; p.L403L; 2:160022752-160022752	skin; neck	malignant_melanoma	Substitution - coding silent
c.408C>A; p.N136K; 2:160044859-160044859	liver	carcinoma	Substitution - Missense
c.408C>A; p.N136K; 2:160044859-160044859	liver	carcinoma	Substitution - Missense
c.3560G>T; p.W1187L; 2:159949757-159949757	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.305G>C; p.S102T; 2:160044962-160044962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2685A>G; p.I895M; 2:159969335-159969335	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.2059C>G; p.L687V; 2:159984052-159984052	breast	carcinoma	Substitution - Missense
c.2044C>A; p.H682N; 2:159984067-159984067	central_nervous_system; brain	glioma	Substitution - Missense
c.1078C>T; p.H360Y; 2:160028239-160028239	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2609G>A; p.G870D; 2:159970199-159970199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.792A>C; p.G264G; 2:160033008-160033008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1401G>A; p.E467E; 2:160020157-160020157	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1159C>T; p.R387C; 2:160022800-160022800	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1374C>T; p.V458V; 2:160020184-160020184	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3975C>G; p.T1325T; 2:159945075-159945075	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3568G>A; p.G1190S; 2:159949749-159949749	skin	malignant_melanoma	Substitution - Missense
c.4171G>A; p.E1391K; 2:159942133-159942133	skin	malignant_melanoma	Substitution - Missense
c.3030T>C; p.I1010I; 2:159955821-159955821	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.2042T>G; p.F681C; 2:159984069-159984069	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2394C>T; p.I798I; 2:159977291-159977291	skin	malignant_melanoma	Substitution - coding silent
c.3541-1G>A; p.?; 2:159949777-159949777	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1215T>G; p.S405S; 2:160022744-160022744	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1707A>G; p.V569V; 2:160005779-160005779	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1453-4G>T; p.?; 2:160016716-160016716	liver	carcinoma	Unknown
c.1624G>A; p.G542S; 2:160013303-160013303	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1624G>A; p.G542S; 2:160013303-160013303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3721T>C; p.S1241P; 2:159947548-159947548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.398C>T; p.A133V; 2:160044869-160044869	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3974C>T; p.T1325I; 2:159945076-159945076	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.465T>C; p.G155G; 2:160044802-160044802	breast	carcinoma	Substitution - coding silent
c.2970C>T; p.F990F; 2:159956562-159956562	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2881G>T; p.G961*; 2:159967562-159967562	skin	malignant_melanoma	Substitution - Nonsense
c.3467A>G; p.Y1156C; 2:159951413-159951413	liver	carcinoma	Substitution - Missense
c.2444C>G; p.P815R; 2:159976219-159976219	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3467A>G; p.Y1156C; 2:159951413-159951413	liver	carcinoma	Substitution - Missense
c.426G>A; p.R142R; 2:160044841-160044841	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2789C>T; p.S930L; 2:159967654-159967654	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2037+4A>C; p.?; 2:159987152-159987152	liver	carcinoma	Unknown
c.2505C>A; p.N835K; 2:159976158-159976158	liver	carcinoma	Substitution - Missense
c.3736T>C; p.L1246L; 2:159947533-159947533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2505C>A; p.N835K; 2:159976158-159976158	liver	carcinoma	Substitution - Missense
c.39_40insCTG; p.L13_G14insL; 2:160062364-160062365	large_intestine	carcinoma; adenocarcinoma	Insertion - In frame
c.2037+4A>C; p.?; 2:159987152-159987152	liver	carcinoma	Unknown
c.1880G>C; p.G627A; 2:159987313-159987313	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2227C>T; p.P743S; 2:159979871-159979871	skin	malignant_melanoma	Substitution - Missense
c.1760delG; p.G587fs*8; 2:160005726-160005726	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1453-1G>A; p.?; 2:160016713-160016713	skin	malignant_melanoma	Unknown
c.4024C>T; p.R1342W; 2:159945026-159945026	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.971C>A; p.P324Q; 2:160028346-160028346	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4213C>T; p.L1405L; 2:159941957-159941957	skin	malignant_melanoma	Substitution - coding silent
c.3566A>G; p.D1189G; 2:159949751-159949751	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2080G>T; p.E694*; 2:159984031-159984031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4227C>T; p.V1409V; 2:159941943-159941943	breast	carcinoma	Substitution - coding silent
c.661G>T; p.D221Y; 2:160042031-160042031	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3598G>A; p.D1200N; 2:159949719-159949719	skin; extremity	malignant_melanoma	Substitution - Missense
c.1509delA; p.A504fs*47; 2:160016656-160016656	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3223A>C; p.N1075H; 2:159955277-159955277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.271G>T; p.G91C; 2:160044996-160044996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1436T>C; p.V479A; 2:160020122-160020122	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1073T>C; p.L358P; 2:160028244-160028244	breast	carcinoma	Substitution - Missense
c.271G>T; p.G91C; 2:160044996-160044996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2382G>T; p.W794C; 2:159977303-159977303	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.797C>T; p.T266M; 2:160033003-160033003	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2424C>T; p.F808F; 2:159976698-159976698	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3519G>A; p.W1173*; 2:159951361-159951361	skin; trunk	malignant_melanoma; nodular	Substitution - Nonsense
c.3365G>A; p.G1122E; 2:159951515-159951515	skin	malignant_melanoma	Substitution - Missense
c.765G>A; p.E255E; 2:160033035-160033035	skin	malignant_melanoma	Substitution - coding silent
c.2381G>A; p.W794*; 2:159977304-159977304	skin	malignant_melanoma	Substitution - Nonsense
c.825A>C; p.E275D; 2:160032975-160032975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3709_3709+1GG>AA; p.?; 2:159949607-159949608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.582T>G; p.R194R; 2:160042110-160042110	skin	malignant_melanoma	Substitution - coding silent
c.2101G>T; p.E701*; 2:159984010-159984010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2565G>A; p.E855E; 2:159976098-159976098	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3287G>A; p.C1096Y; 2:159955213-159955213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2659C>T; p.R887C; 2:159970149-159970149	skin	malignant_melanoma	Substitution - Missense
c.2659C>T; p.R887C; 2:159970149-159970149	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4071G>A; p.L1357L; 2:159944979-159944979	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1220A>G; p.Q407R; 2:160022739-160022739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.262G>A; p.G88S; 2:160045005-160045005	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1068delA; p.K356fs*3; 2:160028249-160028249	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.182T>A; p.L61Q; 2:160045085-160045085	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2774G>A; p.G925D; 2:159967669-159967669	breast	carcinoma	Substitution - Missense
c.2544C>T; p.L848L; 2:159976119-159976119	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1600C>T; p.R534*; 2:160013327-160013327	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3992G>A; p.G1331E; 2:159945058-159945058	skin	malignant_melanoma	Substitution - Missense
c.2419C>T; p.P807S; 2:159976703-159976703	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1487G>T; p.R496I; 2:160016678-160016678	breast	carcinoma	Substitution - Missense
c.396G>T; p.V132V; 2:160044871-160044871	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.115G>T; p.G39*; 2:160045152-160045152	skin	malignant_melanoma	Substitution - Nonsense
c.2034C>T; p.F678F; 2:159987159-159987159	skin	malignant_melanoma	Substitution - coding silent
c.37_39delCTG; p.L13delL; 2:160062365-160062367	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2415G>T; p.K805N; 2:159976707-159976707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.37_39delCTG; p.L13delL; 2:160062365-160062367	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2710G>A; p.E904K; 2:159969310-159969310	skin	malignant_melanoma	Substitution - Missense
c.2668G>C; p.D890H; 2:159969352-159969352	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2691G>T; p.Q897H; 2:159969329-159969329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3477C>T; p.S1159S; 2:159951403-159951403	skin	malignant_melanoma	Substitution - coding silent
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2977G>A; p.E993K; 2:159956555-159956555	skin	malignant_melanoma	Substitution - Missense
c.3628G>A; p.V1210I; 2:159949689-159949689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2977G>A; p.E993K; 2:159956555-159956555	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3353C>T; p.T1118I; 2:159951527-159951527	skin	malignant_melanoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>A; p.T207K; 2:160042072-160042072	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4025G>A; p.R1342Q; 2:159945025-159945025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2689C>G; p.Q897E; 2:159969331-159969331	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4025G>A; p.R1342Q; 2:159945025-159945025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2569G>T; p.E857*; 2:159976094-159976094	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3599A>T; p.D1200V; 2:159949718-159949718	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3712A>G; p.T1238A; 2:159947557-159947557	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2569G>T; p.E857*; 2:159976094-159976094	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1863A>G; p.R621R; 2:159987330-159987330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4304G>A; p.R1435Q; 2:159941866-159941866	large_intestine; colon	NS	Substitution - Missense
c.2195G>A; p.R732K; 2:159979903-159979903	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1339C>T; p.P447S; 2:160020219-160020219	skin	malignant_melanoma	Substitution - Missense
c.3331G>A; p.D1111N; 2:159951549-159951549	skin	malignant_melanoma	Substitution - Missense
c.2728C>G; p.Q910E; 2:159969292-159969292	breast	carcinoma	Substitution - Missense
c.3331G>A; p.D1111N; 2:159951549-159951549	skin	malignant_melanoma	Substitution - Missense
c.2623A>G; p.I875V; 2:159970185-159970185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1844G>A; p.G615D; 2:159987349-159987349	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1795G>T; p.E599*; 2:160005691-160005691	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2209G>A; p.G737R; 2:159979889-159979889	skin	malignant_melanoma	Substitution - Missense
c.1844G>A; p.G615D; 2:159987349-159987349	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3919G>C; p.G1307R; 2:159946849-159946849	breast	carcinoma	Substitution - Missense
c.3854C>A; p.S1285Y; 2:159946914-159946914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4087T>G; p.L1363V; 2:159944963-159944963	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.331G>A; p.V111I; 2:160044936-160044936	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3647G>A; p.G1216E; 2:159949670-159949670	skin	malignant_melanoma	Substitution - Missense
c.4144G>C; p.D1382H; 2:159944906-159944906	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3647G>A; p.G1216E; 2:159949670-159949670	skin	malignant_melanoma	Substitution - Missense
c.986A>G; p.H329R; 2:160028331-160028331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2569G>A; p.E857K; 2:159976094-159976094	skin; trunk	malignant_melanoma	Substitution - Missense
c.4159G>A; p.E1387K; 2:159942145-159942145	thyroid	carcinoma	Substitution - Missense
c.4159G>A; p.E1387K; 2:159942145-159942145	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1900T>C; p.C634R; 2:159987293-159987293	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.286G>A; p.A96T; 2:160044981-160044981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4162G>T; p.A1388S; 2:159942142-159942142	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1556G>A; p.W519*; 2:160013371-160013371	skin	malignant_melanoma	Substitution - Nonsense
c.2274C>T; p.V758V; 2:159977411-159977411	skin	malignant_melanoma	Substitution - coding silent
c.862G>A; p.V288M; 2:160028943-160028943	skin; neck	malignant_melanoma	Substitution - Missense
c.720C>T; p.H240H; 2:160033080-160033080	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.609G>A; p.W203*; 2:160042083-160042083	skin	malignant_melanoma	Substitution - Nonsense
c.1046C>T; p.T349I; 2:160028271-160028271	skin	malignant_melanoma	Substitution - Missense
c.330C>T; p.L110L; 2:160044937-160044937	skin	malignant_melanoma	Substitution - coding silent
c.330C>T; p.L110L; 2:160044937-160044937	skin	malignant_melanoma	Substitution - coding silent
c.330C>T; p.L110L; 2:160044937-160044937	skin	malignant_melanoma	Substitution - coding silent
c.1118A>T; p.Y373F; 2:160022841-160022841	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2779G>A; p.E927K; 2:159967664-159967664	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3605A>G; p.E1202G; 2:159949712-159949712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3267G>T; p.K1089N; 2:159955233-159955233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.898C>G; p.H300D; 2:160028907-160028907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>T; p.G152W; 2:160044813-160044813	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1582A>G; p.K528E; 2:160013345-160013345	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2306A>G; p.E769G; 2:159977379-159977379	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2056G>T; p.V686F; 2:159984055-159984055	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3027C>A; p.F1009L; 2:159955824-159955824	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1473A>C; p.K491N; 2:160016692-160016692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3027C>A; p.F1009L; 2:159955824-159955824	stomach	adenocarcinoma	Substitution - Missense
c.1747C>T; p.Q583*; 2:160005739-160005739	skin	malignant_melanoma	Substitution - Nonsense
c.1971G>A; p.E657E; 2:159987222-159987222	skin	malignant_melanoma	Substitution - coding silent
c.322T>C; p.S108P; 2:160044945-160044945	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.386C>T; p.S129F; 2:160044881-160044881	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2111C>T; p.A704V; 2:159984000-159984000	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2816G>A; p.R939Q; 2:159967627-159967627	skin	malignant_melanoma	Substitution - Missense
c.4157C>T; p.A1386V; 2:159942147-159942147	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4154C>T; p.T1385I; 2:159942150-159942150	skin	malignant_melanoma	Substitution - Missense
c.3627C>T; p.C1209C; 2:159949690-159949690	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2222G>C; p.R741T; 2:159979876-159979876	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.892G>A; p.D298N; 2:160028913-160028913	skin	malignant_melanoma	Substitution - Missense
c.892G>A; p.D298N; 2:160028913-160028913	skin	malignant_melanoma	Substitution - Missense
c.4309C>T; p.P1437S; 2:159941861-159941861	skin	malignant_melanoma	Substitution - Missense
c.892G>A; p.D298N; 2:160028913-160028913	skin	malignant_melanoma	Substitution - Missense
c.2307A>T; p.E769D; 2:159977378-159977378	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.834C>G; p.F278L; 2:160032966-160032966	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1093A>G; p.I365V; 2:160028224-160028224	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2765-6delC; p.?; 2:159967684-159967684	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.241C>T; p.L81F; 2:160045026-160045026	skin	malignant_melanoma	Substitution - Missense
c.2536G>A; p.D846N; 2:159976127-159976127	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2240G>A; p.G747D; 2:159979858-159979858	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3890C>A; p.A1297E; 2:159946878-159946878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>A; p.R119R; 2:160044910-160044910	skin	malignant_melanoma	Substitution - coding silent
c.399G>A; p.A133A; 2:160044868-160044868	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.882C>T; p.L294L; 2:160028923-160028923	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4168C>G; p.P1390A; 2:159942136-159942136	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2279C>T; p.S760L; 2:159977406-159977406	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2279C>T; p.S760L; 2:159977406-159977406	skin	malignant_melanoma	Substitution - Missense
c.2279C>T; p.S760L; 2:159977406-159977406	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2436C>T; p.Y812Y; 2:159976686-159976686	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4244C>T; p.T1415I; 2:159941926-159941926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4108C>G; p.Q1370E; 2:159944942-159944942	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2279C>T; p.S760L; 2:159977406-159977406	skin	malignant_melanoma	Substitution - Missense
c.1699A>G; p.S567G; 2:160005787-160005787	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4262A>G; p.Y1421C; 2:159941908-159941908	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2955G>A; p.T985T; 2:159956577-159956577	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2955G>A; p.T985T; 2:159956577-159956577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4103C>T; p.P1368L; 2:159944947-159944947	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1279A>G; p.T427A; 2:160022680-160022680	skin	malignant_melanoma	Substitution - Missense
c.40G>C; p.G14R; 2:160062364-160062364	pancreas	other; adenoma	Substitution - Missense
c.4074G>A; p.R1358R; 2:159944976-159944976	skin	malignant_melanoma	Substitution - coding silent
c.874A>G; p.M292V; 2:160028931-160028931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3114T>C; p.P1038P; 2:159955737-159955737	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.3794C>A; p.S1265Y; 2:159947475-159947475	breast	carcinoma	Substitution - Missense
c.3402T>G; p.T1134T; 2:159951478-159951478	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4310C>T; p.P1437L; 2:159941860-159941860	skin	malignant_melanoma	Substitution - Missense
c.356G>T; p.R119M; 2:160044911-160044911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3972A>G; p.E1324E; 2:159945078-159945078	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4221G>A; p.L1407L; 2:159941949-159941949	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2831T>A; p.L944H; 2:159967612-159967612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1425C>A; p.S475R; 2:160020133-160020133	liver	carcinoma	Substitution - Missense
c.3118G>A; p.V1040I; 2:159955733-159955733	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.806G>A; p.S269N; 2:160032994-160032994	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.988T>G; p.C330G; 2:160028329-160028329	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1425C>A; p.S475R; 2:160020133-160020133	liver	carcinoma	Substitution - Missense
c.2813A>G; p.K938R; 2:159967630-159967630	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4155T>C; p.T1385T; 2:159942149-159942149	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1908C>T; p.H636H; 2:159987285-159987285	skin	malignant_melanoma	Substitution - coding silent
c.159A>T; p.Q53H; 2:160045108-160045108	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1526C>T; p.S509F; 2:160016639-160016639	skin	malignant_melanoma	Substitution - Missense
c.1526C>T; p.S509F; 2:160016639-160016639	skin; scalp	malignant_melanoma	Substitution - Missense
c.395T>G; p.V132G; 2:160044872-160044872	breast	carcinoma	Substitution - Missense
c.407A>C; p.N136T; 2:160044860-160044860	liver	carcinoma	Substitution - Missense
c.407A>C; p.N136T; 2:160044860-160044860	liver	carcinoma	Substitution - Missense
c.1782A>G; p.V594V; 2:160005704-160005704	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3829C>G; p.H1277D; 2:159947440-159947440	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.525G>A; p.G175G; 2:160042167-160042167	skin	malignant_melanoma	Substitution - coding silent
c.746C>T; p.S249L; 2:160033054-160033054	skin	malignant_melanoma	Substitution - Missense
c.1741C>T; p.Q581*; 2:160005745-160005745	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2705G>A; p.G902E; 2:159969315-159969315	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2401+1G>A; p.?; 2:159977283-159977283	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2401+1G>A; p.?; 2:159977283-159977283	ovary	carcinoma; serous_carcinoma	Unknown
c.2463T>C; p.D821D; 2:159976200-159976200	pancreas	carcinoma	Substitution - coding silent
c.4104G>A; p.P1368P; 2:159944946-159944946	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2463T>C; p.D821D; 2:159976200-159976200	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1524C>T; p.L508L; 2:160016641-160016641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2451C>A; p.L817L; 2:159976212-159976212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3462_3463insTCT; p.D1154_Q1155insS; 2:159951417-159951418	pancreas	carcinoma; ductal_carcinoma	Insertion - In frame
c.1087C>T; p.H363Y; 2:160028230-160028230	skin	malignant_melanoma	Substitution - Missense
c.2062A>G; p.M688V; 2:159984049-159984049	pancreas	carcinoma	Substitution - Missense
c.1759G>A; p.G587R; 2:160005727-160005727	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.4292delT; p.A1432fs*18; 2:159941878-159941878	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4119delA; p.G1374fs*32; 2:159944931-159944931	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4119delA; p.G1374fs*32; 2:159944931-159944931	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2811T>G; p.C937W; 2:159967632-159967632	skin	malignant_melanoma	Substitution - Missense
c.1032G>A; p.R344R; 2:160028285-160028285	skin	malignant_melanoma	Substitution - coding silent
c.542C>T; p.P181L; 2:160042150-160042150	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.542C>T; p.P181L; 2:160042150-160042150	skin	malignant_melanoma	Substitution - Missense
c.3272G>A; p.G1091D; 2:159955228-159955228	skin	malignant_melanoma	Substitution - Missense
c.2787T>G; p.C929W; 2:159967656-159967656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4176delA; p.G1393fs*13; 2:159942128-159942128	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4176delA; p.G1393fs*13; 2:159942128-159942128	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1758G>A; p.T586T; 2:160005728-160005728	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1758G>A; p.T586T; 2:160005728-160005728	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2653G>A; p.E885K; 2:159970155-159970155	skin	malignant_melanoma	Substitution - Missense
c.618G>A; p.T206T; 2:160042074-160042074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2513T>G; p.F838C; 2:159976150-159976150	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.919G>C; p.D307H; 2:160028886-160028886	breast	carcinoma	Substitution - Missense
c.1969G>A; p.E657K; 2:159987224-159987224	skin	malignant_melanoma	Substitution - Missense
c.335C>T; p.S112F; 2:160044932-160044932	skin	malignant_melanoma	Substitution - Missense
c.1568G>T; p.G523V; 2:160013359-160013359	thyroid	carcinoma	Substitution - Missense
c.3463_3464insTCT; p.Q1155>L*; 2:159951416-159951417	pancreas	carcinoma	Complex - insertion inframe
c.2145G>T; p.E715D; 2:159983966-159983966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2145G>T; p.E715D; 2:159983966-159983966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2145G>T; p.E715D; 2:159983966-159983966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2836G>A; p.E946K; 2:159967607-159967607	skin; scalp	malignant_melanoma	Substitution - Missense
c.4363A>G; p.I1455V; 2:159941807-159941807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.852C>T; p.S284S; 2:160028953-160028953	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3681G>A; p.L1227L; 2:159949636-159949636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2163C>G; p.L721L; 2:159983948-159983948	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1169A>G; p.Y390C; 2:160022790-160022790	liver	carcinoma	Substitution - Missense
c.4199C>T; p.P1400L; 2:159941971-159941971	skin	malignant_melanoma	Substitution - Missense
c.1169A>G; p.Y390C; 2:160022790-160022790	liver	carcinoma	Substitution - Missense
c.2968T>G; p.F990V; 2:159956564-159956564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3827C>T; p.A1276V; 2:159947442-159947442	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1495_1496insT; p.Y499fs*4; 2:160016669-160016670	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1068_1069insA; p.Y357fs*6; 2:160028248-160028249	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.938A>G; p.Y313C; 2:160028867-160028867	breast	carcinoma	Substitution - Missense
c.1875A>C; p.P625P; 2:159987318-159987318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1875A>C; p.P625P; 2:159987318-159987318	skin	malignant_melanoma	Substitution - coding silent
c.1179G>A; p.Q393Q; 2:160022780-160022780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1875A>C; p.P625P; 2:159987318-159987318	skin	malignant_melanoma	Substitution - coding silent
c.1553G>A; p.G518E; 2:160013374-160013374	skin; mucosal	malignant_melanoma	Substitution - Missense
c.109+2T>G; p.?; 2:160062293-160062293	breast	carcinoma	Unknown
c.4119_4120insA; p.G1374fs*5; 2:159944930-159944931	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.968A>T; p.E323V; 2:160028349-160028349	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2457T>C; p.Y819Y; 2:159976206-159976206	central_nervous_system; brain	glioma	Substitution - coding silent
c.4119_4120insA; p.G1374fs*5; 2:159944930-159944931	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3331G>C; p.D1111H; 2:159951549-159951549	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2437+5G>A; p.?; 2:159976680-159976680	ovary	other; neoplasm	Unknown
c.2887C>T; p.L963L; 2:159967556-159967556	skin	malignant_melanoma	Substitution - coding silent
c.3923C>A; p.S1308Y; 2:159946845-159946845	prostate	carcinoma	Substitution - Missense
c.4205C>T; p.A1402V; 2:159941965-159941965	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1429C>T; p.L477L; 2:160020129-160020129	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1421G>T; p.R474I; 2:160020137-160020137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3534C>G; p.T1178T; 2:159951346-159951346	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3674C>G; p.S1225*; 2:159949643-159949643	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4315T>C; p.Y1439H; 2:159941855-159941855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.650G>A; p.G217E; 2:160042042-160042042	skin	malignant_melanoma	Substitution - Missense
c.1571G>A; p.G524E; 2:160013356-160013356	skin	malignant_melanoma	Substitution - Missense
c.1741C>G; p.Q581E; 2:160005745-160005745	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2940T>C; p.S980S; 2:159956592-159956592	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1370delC; p.S457fs*1; 2:160020188-160020188	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2855C>T; p.P952L; 2:159967588-159967588	skin	malignant_melanoma	Substitution - Missense
c.2652T>C; p.D884D; 2:159970156-159970156	skin; shoulder	malignant_melanoma	Substitution - coding silent
c.2268+8T>C; p.?; 2:159979822-159979822	liver	carcinoma	Unknown
c.2268+8T>C; p.?; 2:159979822-159979822	liver	carcinoma	Unknown
c.2867G>A; p.G956E; 2:159967576-159967576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3477C>G; p.S1159S; 2:159951403-159951403	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2451C>T; p.L817L; 2:159976212-159976212	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.541C>T; p.P181S; 2:160042151-160042151	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]