Entrez Gene

Basic Information
Gene ID	5241
Name	PGR
Synonymous	progesterone receptor;PGR;progesterone receptor
Definition	nuclear receptor subfamily 3 group C member 3
Position	11q22-q23
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 0.19.

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.198A>G; p.G66G; 11:101128873-101128873	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2285G>T; p.G762V; 11:101051496-101051496	breast	carcinoma	Substitution - Missense
c.1984G>A; p.V662I; 11:101062675-101062675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.925C>T; p.L309L; 11:101128146-101128146	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2741C>T; p.A914V; 11:101039177-101039177	breast	carcinoma	Substitution - Missense
c.1817G>A; p.R606K; 11:101091849-101091849	skin	malignant_melanoma	Substitution - Missense
c.1813G>T; p.G605*; 11:101091853-101091853	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.198A>G; p.G66G; 11:101128873-101128873	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.935A>G; p.N312S; 11:101128136-101128136	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2733A>C; p.E911D; 11:101039185-101039185	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2104G>T; p.G702*; 11:101062555-101062555	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2091T>C; p.D697D; 11:101062568-101062568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.296G>A; p.S99N; 11:101128775-101128775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.74C>T; p.S25F; 11:101128997-101128997	skin	malignant_melanoma	Substitution - Missense
c.2056C>T; p.P686S; 11:101062603-101062603	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.994G>A; p.G332R; 11:101128077-101128077	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2143C>T; p.L715L; 11:101062516-101062516	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.957C>T; p.R319R; 11:101128114-101128114	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.661G>T; p.V221F; 11:101128410-101128410	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1638-1G>A; p.?; 11:101126159-101126159	stomach	carcinoma; adenocarcinoma	Unknown
c.1092G>T; p.P364P; 11:101127979-101127979	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.560delG; p.G188fs*23; 11:101128511-101128511	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.1638-1G>A; p.?; 11:101126159-101126159	pancreas	carcinoma	Unknown
c.82C>T; p.L28L; 11:101128989-101128989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1023G>A; p.P341P; 11:101128048-101128048	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2158C>T; p.Q720*; 11:101062501-101062501	skin	malignant_melanoma	Substitution - Nonsense
c.2595G>A; p.S865S; 11:101041996-101041996	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2103A>G; p.A701A; 11:101062556-101062556	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2451G>A; p.E817E; 11:101049966-101049966	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.714G>T; p.K238N; 11:101128357-101128357	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2179C>A; p.L727I; 11:101062480-101062480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2719G>A; p.E907K; 11:101039199-101039199	skin	malignant_melanoma	Substitution - Missense
c.2719G>A; p.E907K; 11:101039199-101039199	skin	malignant_melanoma	Substitution - Missense
c.1973A>G; p.Q658R; 11:101062686-101062686	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2218C>T; p.R740*; 11:101051563-101051563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.2218C>T; p.R740*; 11:101051563-101051563	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2218C>T; p.R740*; 11:101051563-101051563	skin	malignant_melanoma	Substitution - Nonsense
c.2218C>T; p.R740*; 11:101051563-101051563	skin	malignant_melanoma	Substitution - Nonsense
c.2212+2T>C; p.?; 11:101062445-101062445	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.225G>T; p.Q75H; 11:101128846-101128846	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1388A>G; p.Y463C; 11:101127683-101127683	skin	malignant_melanoma	Substitution - Missense
c.2539A>C; p.S847R; 11:101042052-101042052	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.427T>C; p.F143L; 11:101128644-101128644	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2204C>T; p.S735L; 11:101062455-101062455	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2204C>T; p.S735L; 11:101062455-101062455	skin	malignant_melanoma	Substitution - Missense
c.1862C>T; p.A621V; 11:101091804-101091804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.67G>A; p.V23I; 11:101129004-101129004	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2149A>T; p.S717C; 11:101062510-101062510	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2219G>A; p.R740Q; 11:101051562-101051562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2195G>A; p.W732*; 11:101062464-101062464	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2219G>A; p.R740Q; 11:101051562-101051562	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.559C>T; p.R187W; 11:101128512-101128512	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2219G>A; p.R740Q; 11:101051562-101051562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2219G>A; p.R740Q; 11:101051562-101051562	liver	carcinoma	Substitution - Missense
c.2219G>A; p.R740Q; 11:101051562-101051562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.39C>T; p.H13H; 11:101129032-101129032	liver	carcinoma	Substitution - coding silent
c.2219G>A; p.R740Q; 11:101051562-101051562	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.2051T>A; p.I684N; 11:101062608-101062608	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.626delC; p.P209fs*2; 11:101128445-101128445	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.557C>T; p.P186L; 11:101128514-101128514	breast	carcinoma	Substitution - Missense
c.831G>A; p.A277A; 11:101128240-101128240	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1194G>A; p.A398A; 11:101127877-101127877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2371G>T; p.E791*; 11:101050046-101050046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1091C>A; p.P364Q; 11:101127980-101127980	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2415A>T; p.P805P; 11:101050002-101050002	liver	carcinoma	Substitution - coding silent
c.2415A>T; p.P805P; 11:101050002-101050002	liver	carcinoma	Substitution - coding silent
c.2106A>G; p.G702G; 11:101062553-101062553	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.343T>C; p.L115L; 11:101128728-101128728	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1315G>T; p.V439L; 11:101127756-101127756	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2497G>T; p.E833*; 11:101042094-101042094	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1790-3_1790-2insT; p.?; 11:101091878-101091879	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2594C>T; p.S865L; 11:101041997-101041997	skin	malignant_melanoma	Substitution - Missense
c.1850A>C; p.K617T; 11:101091816-101091816	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.940G>A; p.A314T; 11:101128131-101128131	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1204C>T; p.R402C; 11:101127867-101127867	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2746C>A; p.Q916K; 11:101039172-101039172	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2746C>A; p.Q916K; 11:101039172-101039172	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.860C>A; p.A287E; 11:101128211-101128211	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1750T>G; p.C584G; 11:101126046-101126046	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2556C>G; p.L852L; 11:101042035-101042035	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1121A>C; p.Y374S; 11:101127950-101127950	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.348C>G; p.D116E; 11:101128723-101128723	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.348C>G; p.D116E; 11:101128723-101128723	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1898T>C; p.V633A; 11:101091768-101091768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.990C>A; p.D330E; 11:101128081-101128081	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.813A>C; p.E271D; 11:101128258-101128258	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2606G>A; p.R869H; 11:101041985-101041985	pancreas	carcinoma	Substitution - Missense
c.2606G>A; p.R869H; 11:101041985-101041985	pancreas	carcinoma	Substitution - Missense
c.2107C>T; p.H703Y; 11:101062552-101062552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2607T>C; p.R869R; 11:101041984-101041984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2524G>T; p.E842*; 11:101042067-101042067	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2015G>C; p.R672T; 11:101062644-101062644	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2449G>T; p.E817*; 11:101049968-101049968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.535delG; p.A179fs*32; 11:101128536-101128536	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2103A>T; p.A701A; 11:101062556-101062556	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.210C>T; p.S70S; 11:101128861-101128861	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1791G>C; p.G597G; 11:101091875-101091875	liver	carcinoma	Substitution - coding silent
c.1791G>C; p.G597G; 11:101091875-101091875	liver	carcinoma	Substitution - coding silent
c.1807T>C; p.C603R; 11:101091859-101091859	breast	carcinoma	Substitution - Missense
c.830C>T; p.A277V; 11:101128241-101128241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.323G>T; p.S108I; 11:101128748-101128748	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2090A>G; p.D697G; 11:101062569-101062569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2157T>A; p.N719K; 11:101062502-101062502	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.237G>A; p.S79S; 11:101128834-101128834	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1997G>A; p.S666N; 11:101062662-101062662	skin	malignant_melanoma	Substitution - Missense
c.1997G>A; p.S666N; 11:101062662-101062662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.701G>T; p.G234V; 11:101128370-101128370	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.59C>T; p.S20F; 11:101129012-101129012	skin	malignant_melanoma	Substitution - Missense
c.256G>A; p.A86T; 11:101128815-101128815	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1944G>A; p.V648V; 11:101062715-101062715	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1937G>A; p.R646K; 11:101062722-101062722	NS	malignant_melanoma	Substitution - Missense
c.1937G>A; p.R646K; 11:101062722-101062722	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2311G>A; p.V771I; 11:101051470-101051470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1937G>A; p.R646K; 11:101062722-101062722	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1901T>G; p.L634R; 11:101091765-101091765	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.169G>C; p.G57R; 11:101128902-101128902	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2001A>G; p.Q667Q; 11:101062658-101062658	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2506C>T; p.R836*; 11:101042085-101042085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1830C>T; p.I610I; 11:101091836-101091836	skin	malignant_melanoma	Substitution - coding silent
c.2475A>G; p.L825L; 11:101049942-101049942	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.80T>C; p.L27P; 11:101128991-101128991	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>A; p.G109R; 11:101128746-101128746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1449G>A; p.P483P; 11:101127622-101127622	pancreas	carcinoma	Substitution - coding silent
c.848T>A; p.V283E; 11:101128223-101128223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.A247T; 11:101128332-101128332	pancreas	carcinoma	Substitution - Missense
c.2696G>T; p.R899L; 11:101039222-101039222	breast	carcinoma	Substitution - Missense
c.1790-4_1790-3insT; p.?; 11:101091879-101091880	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2584G>T; p.G862*; 11:101042007-101042007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2137T>G; p.S713A; 11:101062522-101062522	ovary	other; neoplasm	Substitution - Missense
c.2244A>G; p.I748M; 11:101051537-101051537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.560G>T; p.R187L; 11:101128511-101128511	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.122C>T; p.T41I; 11:101128949-101128949	liver	carcinoma	Substitution - Missense
c.122C>T; p.T41I; 11:101128949-101128949	liver	carcinoma	Substitution - Missense
c.2476C>G; p.L826V; 11:101049941-101049941	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2695_2696insC; p.R899fs*6; 11:101039222-101039223	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1102G>C; p.E368Q; 11:101127969-101127969	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2277G>T; p.M759I; 11:101051504-101051504	breast	carcinoma	Substitution - Missense
c.1837A>G; p.K613E; 11:101091829-101091829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2321A>C; p.Q774P; 11:101051460-101051460	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1987C>T; p.P663S; 11:101062672-101062672	skin	malignant_melanoma	Substitution - Missense
c.2362C>G; p.R788G; 11:101050055-101050055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.924C>G; p.I308M; 11:101128147-101128147	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2167G>A; p.E723K; 11:101062492-101062492	breast	carcinoma	Substitution - Missense
c.660G>A; p.E220E; 11:101128411-101128411	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1833T>G; p.V611V; 11:101091833-101091833	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1619C>T; p.P540L; 11:101127452-101127452	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.309C>T; p.P103P; 11:101128762-101128762	skin	malignant_melanoma	Substitution - coding silent
c.873C>T; p.P291P; 11:101128198-101128198	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1126C>T; p.L376F; 11:101127945-101127945	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1126C>T; p.L376F; 11:101127945-101127945	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2695C>G; p.R899G; 11:101039223-101039223	skin	malignant_melanoma	Substitution - Missense
c.2092G>A; p.V698M; 11:101062567-101062567	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1786_1787insG; p.E596fs*13; 11:101126009-101126010	breast	carcinoma	Insertion - Frameshift
c.1077C>T; p.P359P; 11:101127994-101127994	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1790-3delT; p.?; 11:101091879-101091879	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.860C>T; p.A287V; 11:101128211-101128211	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1785_1786insG; p.E596fs*13; 11:101126010-101126011	breast	carcinoma	Insertion - Frameshift
c.184C>T; p.R62W; 11:101128887-101128887	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2695C>T; p.R899W; 11:101039223-101039223	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2251A>T; p.I751F; 11:101051530-101051530	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2695C>T; p.R899W; 11:101039223-101039223	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.827C>T; p.S276L; 11:101128244-101128244	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1697T>G; p.I566S; 11:101126099-101126099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.618C>T; p.S206S; 11:101128453-101128453	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1903G>T; p.G635*; 11:101091763-101091763	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1955A>G; p.D652G; 11:101062704-101062704	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2626C>T; p.L876F; 11:101041965-101041965	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2281T>A; p.F761I; 11:101051500-101051500	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.695C>T; p.S232F; 11:101128376-101128376	skin	malignant_melanoma	Substitution - Missense
c.243G>T; p.S81S; 11:101128828-101128828	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2212+1G>A; p.?; 11:101062446-101062446	skin	malignant_melanoma	Unknown
c.864G>T; p.P288P; 11:101128207-101128207	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2688_2689CC>AA; p.I896>?; 11:101039229-101039230	lung	carcinoma; adenocarcinoma	Complex
c.1677C>T; p.F559F; 11:101126119-101126119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1770_1772delCTT; p.F591delF; 11:101126024-101126026	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.93A>G; p.P31P; 11:101128978-101128978	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.93A>G; p.P31P; 11:101128978-101128978	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1770_1772delCTT; p.F591delF; 11:101126024-101126026	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1326A>C; p.A442A; 11:101127745-101127745	liver	carcinoma	Substitution - coding silent
c.1326A>C; p.A442A; 11:101127745-101127745	thyroid	other; neoplasm	Substitution - coding silent
c.2696G>A; p.R899Q; 11:101039222-101039222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1326A>C; p.A442A; 11:101127745-101127745	thyroid	other; neoplasm	Substitution - coding silent
c.2089G>T; p.D697Y; 11:101062570-101062570	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1868G>A; p.R623H; 11:101091798-101091798	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1868G>A; p.R623H; 11:101091798-101091798	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1326A>C; p.A442A; 11:101127745-101127745	thyroid	other; neoplasm	Substitution - coding silent
c.1868G>A; p.R623H; 11:101091798-101091798	pancreas	carcinoma	Substitution - Missense
c.114G>A; p.G38G; 11:101128957-101128957	skin	malignant_melanoma	Substitution - coding silent
c.1868G>A; p.R623H; 11:101091798-101091798	pancreas	carcinoma	Substitution - Missense
c.2236G>T; p.D746Y; 11:101051545-101051545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.S910F; 11:101039189-101039189	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2492C>T; p.P831L; 11:101042099-101042099	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.993C>T; p.G331G; 11:101128078-101128078	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.220A>G; p.T74A; 11:101128851-101128851	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.192C>A; p.C64*; 11:101128879-101128879	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1122C>A; p.Y374*; 11:101127949-101127949	ovary	other; neoplasm	Substitution - Nonsense
c.465C>T; p.P155P; 11:101128606-101128606	pancreas	NS	Substitution - coding silent
c.2027C>T; p.S676L; 11:101062632-101062632	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793G>A; p.V265I; 11:101128278-101128278	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1039T>G; p.C347G; 11:101128032-101128032	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1736A>G; p.Y579C; 11:101126060-101126060	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.282G>A; p.R94R; 11:101128789-101128789	skin	malignant_melanoma	Substitution - coding silent
c.2003C>T; p.A668V; 11:101062656-101062656	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.687C>T; p.S229S; 11:101128384-101128384	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1640C>T; p.P547L; 11:101126156-101126156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.877C>T; p.R293C; 11:101128194-101128194	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2297G>T; p.R766I; 11:101051484-101051484	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2297G>T; p.R766I; 11:101051484-101051484	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2297G>T; p.R766I; 11:101051484-101051484	large_intestine; colon	carcinoma	Substitution - Missense
c.2297G>T; p.R766I; 11:101051484-101051484	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2785C>T; p.L929F; 11:101039133-101039133	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.211G>A; p.D71N; 11:101128860-101128860	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1910G>A; p.R637Q; 11:101062749-101062749	skin	malignant_melanoma	Substitution - Missense
c.1744C>T; p.L582F; 11:101126052-101126052	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1117G>A; p.A373T; 11:101127954-101127954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2362C>T; p.R788W; 11:101050055-101050055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2362C>T; p.R788W; 11:101050055-101050055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2783T>C; p.L928P; 11:101039135-101039135	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.111G>A; p.P37P; 11:101128960-101128960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1060G>A; p.A354T; 11:101128011-101128011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2270G>T; p.S757I; 11:101051511-101051511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.869C>A; p.A290E; 11:101128202-101128202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.657G>A; p.V219V; 11:101128414-101128414	skin	malignant_melanoma	Substitution - coding silent
c.2101G>A; p.A701T; 11:101062558-101062558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.258A>C; p.A86A; 11:101128813-101128813	liver	carcinoma	Substitution - coding silent
c.674A>G; p.D225G; 11:101128397-101128397	pancreas	carcinoma	Substitution - Missense
c.258A>C; p.A86A; 11:101128813-101128813	liver	carcinoma	Substitution - coding silent
c.2082T>C; p.I694I; 11:101062577-101062577	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.180C>T; p.F60F; 11:101128891-101128891	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2253T>A; p.I751I; 11:101051528-101051528	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1967T>C; p.L656P; 11:101062692-101062692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.920C>A; p.P307H; 11:101128151-101128151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2198C>A; p.S733Y; 11:101062461-101062461	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2437G>T; p.V813F; 11:101049980-101049980	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1029G>T; p.R343R; 11:101128042-101128042	central_nervous_system; brain	glioma	Substitution - coding silent
c.403G>T; p.E135*; 11:101128668-101128668	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1969C>T; p.P657S; 11:101062690-101062690	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1909C>T; p.R637*; 11:101062750-101062750	pancreas	carcinoma	Substitution - Nonsense
c.1909C>T; p.R637*; 11:101062750-101062750	pancreas	carcinoma	Substitution - Nonsense
c.1909C>T; p.R637*; 11:101062750-101062750	pancreas	carcinoma	Substitution - Nonsense
c.1816A>C; p.R606R; 11:101091850-101091850	skin	malignant_melanoma	Substitution - coding silent
c.1816A>C; p.R606R; 11:101091850-101091850	skin	malignant_melanoma	Substitution - coding silent
c.1169A>G; p.E390G; 11:101127902-101127902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2716C>T; p.P906S; 11:101039202-101039202	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2672G>C; p.C891S; 11:101039246-101039246	liver	carcinoma	Substitution - Missense
c.1222G>A; p.G408S; 11:101127849-101127849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2127C>A; p.D709E; 11:101062532-101062532	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.439C>A; p.L147I; 11:101128632-101128632	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2507G>A; p.R836Q; 11:101042084-101042084	skin	malignant_melanoma	Substitution - Missense
c.2629C>T; p.L877F; 11:101041962-101041962	skin	malignant_melanoma	Substitution - Missense
c.997G>T; p.A333S; 11:101128074-101128074	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2507G>A; p.R836Q; 11:101042084-101042084	skin	malignant_melanoma	Substitution - Missense
c.2507G>A; p.R836Q; 11:101042084-101042084	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2507G>A; p.R836Q; 11:101042084-101042084	skin	malignant_melanoma	Substitution - Missense
c.131C>A; p.T44N; 11:101128940-101128940	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.149C>T; p.A50V; 11:101128922-101128922	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]