Entrez Gene

Basic Information
Gene ID	846
Name	CASR
Synonymous	calcium-sensing receptor;CASR;calcium-sensing receptor
Definition	extracellular calcium-sensing receptor\|parathyroid Ca(2+)-sensing receptor 1\|parathyroid cell calcium-sensing receptor 1
Position	3q13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1828G>A; p.E610K; 3:122283782-122283782	skin	malignant_melanoma	Substitution - Missense
c.2803C>T; p.P935S; 3:122284757-122284757	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3166G>A; p.V1056M; 3:122285120-122285120	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1828G>A; p.E610K; 3:122283782-122283782	prostate	adenoma	Substitution - Missense
c.3166G>A; p.V1056M; 3:122285120-122285120	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.614G>A; p.R205H; 3:122261649-122261649	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1828G>A; p.E610K; 3:122283782-122283782	skin	malignant_melanoma	Substitution - Missense
c.3166G>A; p.V1056M; 3:122285120-122285120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2610G>A; p.E870E; 3:122284564-122284564	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.265C>T; p.P89S; 3:122257160-122257160	skin	malignant_melanoma	Substitution - Missense
c.2660C>T; p.A887V; 3:122284614-122284614	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2065G>A; p.V689M; 3:122284019-122284019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2048C>T; p.A683V; 3:122284002-122284002	skin; acral	malignant_melanoma	Substitution - Missense
c.699G>A; p.R233R; 3:122261734-122261734	skin	malignant_melanoma	Substitution - coding silent
c.1096G>A; p.G366R; 3:122262131-122262131	skin	malignant_melanoma	Substitution - Missense
c.1875C>T; p.F625F; 3:122283829-122283829	skin	malignant_melanoma	Substitution - coding silent
c.1493C>T; p.P498L; 3:122275927-122275927	skin	malignant_melanoma	Substitution - Missense
c.2386A>T; p.K796*; 3:122284340-122284340	skin	malignant_melanoma	Substitution - Nonsense
c.1875C>T; p.F625F; 3:122283829-122283829	skin	malignant_melanoma	Substitution - coding silent
c.1875C>T; p.F625F; 3:122283829-122283829	skin	malignant_melanoma	Substitution - coding silent
c.3121C>T; p.R1041W; 3:122285075-122285075	prostate	adenoma	Substitution - Missense
c.973G>A; p.G325R; 3:122262008-122262008	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3121C>T; p.R1041W; 3:122285075-122285075	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.259C>A; p.L87I; 3:122257154-122257154	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1754G>T; p.C585F; 3:122283708-122283708	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.823G>A; p.D275N; 3:122261858-122261858	NS	NS	Substitution - Missense
c.2045C>T; p.P682L; 3:122283999-122283999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.74G>T; p.R25L; 3:122254263-122254263	ovary	other; neoplasm	Substitution - Missense
c.25G>A; p.V9I; 3:122254214-122254214	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2686C>T; p.R896C; 3:122284640-122284640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.414G>A; p.T138T; 3:122257309-122257309	skin	malignant_melanoma	Substitution - coding silent
c.2506G>A; p.V836I; 3:122284460-122284460	skin	malignant_melanoma	Substitution - Missense
c.2707G>A; p.G903R; 3:122284661-122284661	skin	malignant_melanoma	Substitution - Missense
c.2100C>T; p.N700N; 3:122284054-122284054	skin	malignant_melanoma	Substitution - coding silent
c.1178C>T; p.P393L; 3:122262213-122262213	skin	malignant_melanoma	Substitution - Missense
c.1020G>A; p.R340R; 3:122262055-122262055	skin	malignant_melanoma	Substitution - coding silent
c.1020G>A; p.R340R; 3:122262055-122262055	skin	malignant_melanoma	Substitution - coding silent
c.2568G>A; p.K856K; 3:122284522-122284522	skin	malignant_melanoma	Substitution - coding silent
c.3017C>T; p.T1006M; 3:122284971-122284971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.89G>A; p.G30E; 3:122254278-122254278	skin	malignant_melanoma	Substitution - Missense
c.3196G>C; p.G1066R; 3:122285150-122285150	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1806G>C; p.E602D; 3:122283760-122283760	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.905C>T; p.S302F; 3:122261940-122261940	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.89G>A; p.G30E; 3:122254278-122254278	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.99C>A; p.I33I; 3:122254288-122254288	bone; pelvis	chondrosarcoma	Substitution - coding silent
c.1250C>T; p.S417F; 3:122262285-122262285	skin	malignant_melanoma	Substitution - Missense
c.279G>A; p.L93L; 3:122257174-122257174	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1769delG; p.W590fs*37; 3:122283723-122283723	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.581C>T; p.A194V; 3:122261616-122261616	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2064C>T; p.F688F; 3:122284018-122284018	skin	malignant_melanoma	Substitution - coding silent
c.2064C>T; p.F688F; 3:122284018-122284018	skin	malignant_melanoma	Substitution - coding silent
c.2617C>T; p.R873C; 3:122284571-122284571	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1057G>A; p.E353K; 3:122262092-122262092	skin	malignant_melanoma	Substitution - Missense
c.915C>T; p.I305I; 3:122261950-122261950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1803G>A; p.K601K; 3:122283757-122283757	skin	malignant_melanoma	Substitution - coding silent
c.2331C>T; p.I777I; 3:122284285-122284285	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.206G>A; p.R69H; 3:122257101-122257101	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.678C>T; p.F226F; 3:122261713-122261713	skin	malignant_melanoma	Substitution - coding silent
c.452C>A; p.T151K; 3:122257347-122257347	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.678C>T; p.F226F; 3:122261713-122261713	skin	malignant_melanoma	Substitution - coding silent
c.1928T>C; p.V643A; 3:122283882-122283882	skin	malignant_melanoma	Substitution - Missense
c.5C>A; p.A2E; 3:122254194-122254194	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1327C>A; p.L443I; 3:122262362-122262362	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2214C>A; p.I738I; 3:122284168-122284168	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1527G>A; p.G509G; 3:122275961-122275961	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2704C>G; p.L902V; 3:122284658-122284658	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1419delG; p.E475fs*3; 3:122275853-122275853	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2670C>T; p.R890R; 3:122284624-122284624	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2720G>A; p.G907E; 3:122284674-122284674	skin	malignant_melanoma	Substitution - Missense
c.3206G>A; p.S1069N; 3:122285160-122285160	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.846G>A; p.E282E; 3:122261881-122261881	skin	malignant_melanoma	Substitution - coding silent
c.3132G>A; p.V1044V; 3:122285086-122285086	skin	malignant_melanoma	Substitution - coding silent
c.2282T>G; p.I761S; 3:122284236-122284236	skin; trunk	malignant_melanoma	Substitution - Missense
c.1713G>A; p.G571G; 3:122282217-122282217	skin	malignant_melanoma	Substitution - coding silent
c.2979G>T; p.T993T; 3:122284933-122284933	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.789G>A; p.T263T; 3:122261824-122261824	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1670_1671GG>AA; p.G557E; 3:122282174-122282175	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2873A>T; p.Q958L; 3:122284827-122284827	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.981C>T; p.I327I; 3:122262016-122262016	skin	malignant_melanoma	Substitution - coding silent
c.2991C>T; p.S997S; 3:122284945-122284945	skin	malignant_melanoma	Substitution - coding silent
c.2991C>T; p.S997S; 3:122284945-122284945	skin; arm	malignant_melanoma	Substitution - coding silent
c.2178G>A; p.L726L; 3:122284132-122284132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.733C>A; p.Q245K; 3:122261768-122261768	skin	malignant_melanoma	Substitution - Missense
c.970G>A; p.A324T; 3:122262005-122262005	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1212C>T; p.V404V; 3:122262247-122262247	skin	malignant_melanoma	Substitution - coding silent
c.1177C>T; p.P393S; 3:122262212-122262212	skin	malignant_melanoma	Substitution - Missense
c.1212C>T; p.V404V; 3:122262247-122262247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1212C>T; p.V404V; 3:122262247-122262247	skin	malignant_melanoma	Substitution - coding silent
c.548T>A; p.F183Y; 3:122261583-122261583	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2240C>T; p.P747L; 3:122284194-122284194	skin	malignant_melanoma	Substitution - Missense
c.3149T>A; p.L1050*; 3:122285103-122285103	stomach	adenocarcinoma	Substitution - Nonsense
c.1852C>T; p.L618F; 3:122283806-122283806	skin	malignant_melanoma	Substitution - Missense
c.2400C>T; p.N800N; 3:122284354-122284354	pancreas	carcinoma	Substitution - coding silent
c.308C>G; p.T103S; 3:122257203-122257203	breast	carcinoma	Substitution - Missense
c.3013G>A; p.D1005N; 3:122284967-122284967	breast	carcinoma	Substitution - Missense
c.2393C>T; p.P798L; 3:122284347-122284347	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.558C>A; p.T186T; 3:122261593-122261593	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.833C>T; p.P278L; 3:122261868-122261868	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2657G>A; p.R886Q; 3:122284611-122284611	breast	carcinoma	Substitution - Missense
c.1050_1051insT; p.W352fs*6; 3:122262085-122262086	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3078C>T; p.T1026T; 3:122285032-122285032	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1424A>G; p.E475G; 3:122275858-122275858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1174C>T; p.R392*; 3:122262209-122262209	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1174C>T; p.R392*; 3:122262209-122262209	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2671C>G; p.R891G; 3:122284625-122284625	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1140T>G; p.S380R; 3:122262175-122262175	breast	carcinoma	Substitution - Missense
c.1174C>T; p.R392*; 3:122262209-122262209	ovary	other; neoplasm	Substitution - Nonsense
c.107G>T; p.G36V; 3:122254296-122254296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2910C>T; p.S970S; 3:122284864-122284864	prostate	carcinoma	Substitution - coding silent
c.2597G>A; p.R866H; 3:122284551-122284551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.84G>A; p.K28K; 3:122254273-122254273	skin	malignant_melanoma	Substitution - coding silent
c.1049A>T; p.E350V; 3:122262084-122262084	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.650A>G; p.D217G; 3:122261685-122261685	pleura	pulmonary_blastoma	Substitution - Missense
c.1469C>T; p.S490F; 3:122275903-122275903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1469C>T; p.S490F; 3:122275903-122275903	skin	malignant_melanoma	Substitution - Missense
c.2453G>T; p.W818L; 3:122284407-122284407	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2804C>T; p.P935L; 3:122284758-122284758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.883G>T; p.A295S; 3:122261918-122261918	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1650C>T; p.T550T; 3:122282154-122282154	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2101C>T; p.R701C; 3:122284055-122284055	skin	malignant_melanoma	Substitution - Missense
c.853C>A; p.R285R; 3:122261888-122261888	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.853C>T; p.R285W; 3:122261888-122261888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.303C>T; p.C101C; 3:122257198-122257198	pancreas	carcinoma	Substitution - coding silent
c.1025C>T; p.S342F; 3:122262060-122262060	skin	malignant_melanoma	Substitution - Missense
c.1553G>A; p.G518E; 3:122275987-122275987	skin	malignant_melanoma	Substitution - Missense
c.3222C>T; p.N1074N; 3:122285176-122285176	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1838_1839GG>AA; p.G613E; 3:122283792-122283793	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1964T>A; p.L655H; 3:122283918-122283918	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1693T>C; p.C565R; 3:122282197-122282197	liver	carcinoma	Substitution - Missense
c.2102G>T; p.R701L; 3:122284056-122284056	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1319G>A; p.G440E; 3:122262354-122262354	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1693T>C; p.C565R; 3:122282197-122282197	liver	carcinoma	Substitution - Missense
c.2102G>T; p.R701L; 3:122284056-122284056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2911G>A; p.G971S; 3:122284865-122284865	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2911G>A; p.G971S; 3:122284865-122284865	oesophagus	carcinoma	Substitution - Missense
c.1773C>T; p.S591S; 3:122283727-122283727	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3188T>C; p.V1063A; 3:122285142-122285142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.197G>A; p.R66H; 3:122257092-122257092	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1827G>A; p.T609T; 3:122283781-122283781	skin	malignant_melanoma	Substitution - coding silent
c.511A>G; p.S171G; 3:122261546-122261546	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1830G>A; p.E610E; 3:122283784-122283784	skin	malignant_melanoma	Substitution - coding silent
c.2761G>A; p.E921K; 3:122284715-122284715	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2761G>A; p.E921K; 3:122284715-122284715	skin	malignant_melanoma	Substitution - Missense
c.2363T>A; p.F788Y; 3:122284317-122284317	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1371G>A; p.A457A; 3:122262406-122262406	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.735G>A; p.Q245Q; 3:122261770-122261770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.679C>T; p.R227*; 3:122261714-122261714	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.679C>T; p.R227*; 3:122261714-122261714	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1087G>T; p.G363C; 3:122262122-122262122	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.679C>T; p.R227*; 3:122261714-122261714	skin	malignant_melanoma	Substitution - Nonsense
c.679C>T; p.R227*; 3:122261714-122261714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3095T>G; p.L1032R; 3:122285049-122285049	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1715A>T; p.E572V; 3:122282219-122282219	skin	malignant_melanoma	Substitution - Missense
c.2726delC; p.S911fs*28; 3:122284680-122284680	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2726delC; p.S911fs*28; 3:122284680-122284680	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2726delC; p.S911fs*28; 3:122284680-122284680	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1285C>T; p.H429Y; 3:122262320-122262320	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2033G>A; p.R678H; 3:122283987-122283987	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678H; 3:122283987-122283987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678H; 3:122283987-122283987	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678H; 3:122283987-122283987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678H; 3:122283987-122283987	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2033G>A; p.R678H; 3:122283987-122283987	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2692C>T; p.R898W; 3:122284646-122284646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2549C>T; p.A850V; 3:122284503-122284503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>A; p.W206*; 3:122261652-122261652	skin	malignant_melanoma	Substitution - Nonsense
c.1498G>A; p.D500N; 3:122275932-122275932	skin	malignant_melanoma	Substitution - Missense
c.1084G>A; p.E362K; 3:122262119-122262119	skin	malignant_melanoma	Substitution - Missense
c.801C>T; p.I267I; 3:122261836-122261836	skin	malignant_melanoma	Substitution - coding silent
c.382T>C; p.F128L; 3:122257277-122257277	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1048G>A; p.E350K; 3:122262083-122262083	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.801C>T; p.I267I; 3:122261836-122261836	skin	malignant_melanoma	Substitution - coding silent
c.1048G>A; p.E350K; 3:122262083-122262083	skin	malignant_melanoma	Substitution - Missense
c.985G>A; p.G329S; 3:122262020-122262020	skin	malignant_melanoma	Substitution - Missense
c.3050A>T; p.Q1017L; 3:122285004-122285004	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.258C>T; p.A86A; 3:122257153-122257153	skin	malignant_melanoma	Substitution - coding silent
c.801C>T; p.I267I; 3:122261836-122261836	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.1294C>T; p.Q432*; 3:122262329-122262329	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1743C>T; p.A581A; 3:122283697-122283697	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1218_1219CC>AG; p.T406>?; 3:122262253-122262254	lung	carcinoma; adenocarcinoma	Complex
c.365C>A; p.S122Y; 3:122257260-122257260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.365C>A; p.S122Y; 3:122257260-122257260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.365C>A; p.S122Y; 3:122257260-122257260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3058G>A; p.E1020K; 3:122285012-122285012	skin	malignant_melanoma	Substitution - Missense
c.960C>T; p.F320F; 3:122261995-122261995	skin	malignant_melanoma	Substitution - coding silent
c.2470G>A; p.A824T; 3:122284424-122284424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.960C>T; p.F320F; 3:122261995-122261995	skin	malignant_melanoma	Substitution - coding silent
c.1160G>A; p.S387N; 3:122262195-122262195	skin	malignant_melanoma	Substitution - Missense
c.960C>T; p.F320F; 3:122261995-122261995	breast	carcinoma	Substitution - coding silent
c.960C>T; p.F320F; 3:122261995-122261995	skin	malignant_melanoma	Substitution - coding silent
c.960C>T; p.F320F; 3:122261995-122261995	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1135G>A; p.E379K; 3:122262170-122262170	skin	malignant_melanoma	Substitution - Missense
c.2970G>A; p.R990R; 3:122284924-122284924	skin	malignant_melanoma	Substitution - coding silent
c.227T>G; p.F76C; 3:122257122-122257122	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163C>T; p.S388L; 3:122262198-122262198	skin	malignant_melanoma	Substitution - Missense
c.389A>T; p.N130I; 3:122257284-122257284	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.389A>T; p.N130I; 3:122257284-122257284	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2818C>A; p.Q940K; 3:122284772-122284772	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1163C>T; p.S388L; 3:122262198-122262198	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2238G>A; p.A746A; 3:122284192-122284192	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.826C>T; p.L276F; 3:122261861-122261861	skin	malignant_melanoma	Substitution - Missense
c.1723G>A; p.D575N; 3:122282227-122282227	skin	malignant_melanoma	Substitution - Missense
c.2308C>A; p.L770I; 3:122284262-122284262	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>A; p.R172K; 3:122261550-122261550	skin	malignant_melanoma	Substitution - Missense
c.1020G>T; p.R340S; 3:122262055-122262055	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1509C>T; p.I503I; 3:122275943-122275943	skin	malignant_melanoma	Substitution - coding silent
c.431C>G; p.A144G; 3:122257326-122257326	liver	carcinoma	Substitution - Missense
c.2669G>A; p.R890H; 3:122284623-122284623	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2618G>A; p.R873H; 3:122284572-122284572	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1304A>T; p.Y435F; 3:122262339-122262339	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2618G>A; p.R873H; 3:122284572-122284572	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1911C>T; p.F637F; 3:122283865-122283865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1911C>T; p.F637F; 3:122283865-122283865	skin	malignant_melanoma	Substitution - coding silent
c.2068C>T; p.L690F; 3:122284022-122284022	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1132G>A; p.E378K; 3:122262167-122262167	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.900C>T; p.A300A; 3:122261935-122261935	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2384G>A; p.R795Q; 3:122284338-122284338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2628C>T; p.T876T; 3:122284582-122284582	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1132G>A; p.E378K; 3:122262167-122262167	skin	malignant_melanoma	Substitution - Missense
c.2489G>A; p.G830D; 3:122284443-122284443	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.900C>T; p.A300A; 3:122261935-122261935	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2660C>G; p.A887G; 3:122284614-122284614	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1945G>C; p.E649Q; 3:122283899-122283899	ovary	other; neoplasm	Substitution - Missense
c.694G>A; p.E232K; 3:122261729-122261729	skin	malignant_melanoma	Substitution - Missense
c.99C>T; p.I33I; 3:122254288-122254288	skin	malignant_melanoma	Substitution - coding silent
c.309C>T; p.T103T; 3:122257204-122257204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2086C>T; p.L696L; 3:122284040-122284040	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.528C>T; p.N176N; 3:122261563-122261563	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2024G>A; p.W675*; 3:122283978-122283978	skin	malignant_melanoma	Substitution - Nonsense
c.2024G>A; p.W675*; 3:122283978-122283978	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2972A>G; p.N991S; 3:122284926-122284926	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.310G>A; p.V104I; 3:122257205-122257205	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.711C>T; p.I237I; 3:122261746-122261746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2668C>T; p.R890C; 3:122284622-122284622	ovary	other; neoplasm	Substitution - Missense
c.648C>T; p.D216D; 3:122261683-122261683	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.648C>T; p.D216D; 3:122261683-122261683	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1917C>A; p.N639K; 3:122283871-122283871	breast	carcinoma	Substitution - Missense
c.648C>T; p.D216D; 3:122261683-122261683	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.648C>T; p.D216D; 3:122261683-122261683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1675C>G; p.P559A; 3:122282179-122282179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.28C>A; p.L10I; 3:122254217-122254217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1994C>T; p.S665F; 3:122283948-122283948	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2160G>A; p.G720G; 3:122284114-122284114	skin	malignant_melanoma	Substitution - coding silent
c.2672G>A; p.R891H; 3:122284626-122284626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.506C>T; p.S169F; 3:122261541-122261541	skin	malignant_melanoma	Substitution - Missense
c.2694G>T; p.R898R; 3:122284648-122284648	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1994C>T; p.S665F; 3:122283948-122283948	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1366G>A; p.E456K; 3:122262401-122262401	skin	malignant_melanoma	Substitution - Missense
c.1733-1G>C; p.?; 3:122283686-122283686	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.867G>T; p.T289T; 3:122261902-122261902	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1733-1G>C; p.?; 3:122283686-122283686	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.445G>A; p.V149I; 3:122257340-122257340	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1604G>T; p.R535M; 3:122276038-122276038	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.319G>A; p.A107T; 3:122257214-122257214	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1604G>T; p.R535M; 3:122276038-122276038	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.931T>G; p.F311V; 3:122261966-122261966	thyroid	other; neoplasm	Substitution - Missense
c.88G>A; p.G30R; 3:122254277-122254277	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1809C>T; p.I603I; 3:122283763-122283763	skin	malignant_melanoma	Substitution - coding silent
c.88G>A; p.G30R; 3:122254277-122254277	skin	malignant_melanoma	Substitution - Missense
c.1808T>C; p.I603T; 3:122283762-122283762	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2299G>A; p.E767K; 3:122284253-122284253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1690G>A; p.E564K; 3:122282194-122282194	skin	malignant_melanoma	Substitution - Missense
c.2449G>A; p.V817I; 3:122284403-122284403	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.554G>A; p.R185Q; 3:122261589-122261589	skin	malignant_melanoma	Substitution - Missense
c.1047G>A; p.K349K; 3:122262082-122262082	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1748A>T; p.N583I; 3:122283702-122283702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1652G>A; p.R551K; 3:122282156-122282156	skin	malignant_melanoma	Substitution - Missense
c.1826C>T; p.T609M; 3:122283780-122283780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2936T>C; p.F979S; 3:122284890-122284890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.591G>A; p.M197I; 3:122261626-122261626	skin	malignant_melanoma	Substitution - Missense
c.2437A>G; p.I813V; 3:122284391-122284391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.732C>G; p.S244S; 3:122261767-122261767	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1732G>A; p.D578N; 3:122282236-122282236	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1957C>T; p.L653F; 3:122283911-122283911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3229A>G; p.N1077D; 3:122285183-122285183	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1169C>T; p.A390V; 3:122262204-122262204	skin	malignant_melanoma	Substitution - Missense
c.3228G>A; p.V1076V; 3:122285182-122285182	skin	malignant_melanoma	Substitution - coding silent
c.1340G>A; p.G447D; 3:122262375-122262375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2656C>T; p.R886W; 3:122284610-122284610	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.613C>T; p.R205C; 3:122261648-122261648	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.613C>T; p.R205C; 3:122261648-122261648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.613C>T; p.R205C; 3:122261648-122261648	liver	carcinoma	Substitution - Missense
c.613C>T; p.R205C; 3:122261648-122261648	liver	carcinoma	Substitution - Missense
c.1856T>C; p.F619S; 3:122283810-122283810	skin	malignant_melanoma	Substitution - Missense
c.1856T>C; p.F619S; 3:122283810-122283810	skin	malignant_melanoma	Substitution - Missense
c.2693G>A; p.R898Q; 3:122284647-122284647	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1425G>C; p.E475D; 3:122275859-122275859	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2638G>A; p.A880T; 3:122284592-122284592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1270G>A; p.V424I; 3:122262305-122262305	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2781C>T; p.P927P; 3:122284735-122284735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2611G>A; p.E871K; 3:122284565-122284565	skin	malignant_melanoma	Substitution - Missense
c.67G>A; p.D23N; 3:122254256-122254256	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.573G>A; p.E191E; 3:122261608-122261608	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2956G>T; p.A986S; 3:122284910-122284910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2956G>T; p.A986S; 3:122284910-122284910	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1861delG; p.V621fs*6; 3:122283815-122283815	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1289C>T; p.A430V; 3:122262324-122262324	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.553C>T; p.R185*; 3:122261588-122261588	skin	malignant_melanoma	Substitution - Nonsense
c.2682C>T; p.V894V; 3:122284636-122284636	skin	malignant_melanoma	Substitution - coding silent
c.3101G>A; p.G1034E; 3:122285055-122285055	skin	malignant_melanoma	Substitution - Missense
c.1243C>T; p.R415W; 3:122262278-122262278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2199C>T; p.F733F; 3:122284153-122284153	skin	malignant_melanoma	Substitution - coding silent
c.1143C>T; p.G381G; 3:122262178-122262178	large_intestine; colon	adenoma	Substitution - coding silent
c.275C>T; p.T92M; 3:122257170-122257170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.275C>T; p.T92M; 3:122257170-122257170	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1341C>T; p.G447G; 3:122262376-122262376	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2735C>T; p.S912F; 3:122284689-122284689	skin	malignant_melanoma	Substitution - Missense
c.2735C>T; p.S912F; 3:122284689-122284689	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.438C>T; p.G146G; 3:122257333-122257333	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3073C>A; p.L1025M; 3:122285027-122285027	central_nervous_system; brain	glioma	Substitution - Missense
c.868G>A; p.G290S; 3:122261903-122261903	skin	malignant_melanoma	Substitution - Missense
c.868G>A; p.G290S; 3:122261903-122261903	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.260T>G; p.L87R; 3:122257155-122257155	thyroid	other; neoplasm	Substitution - Missense
c.287G>A; p.R96K; 3:122257182-122257182	skin	malignant_melanoma	Substitution - Missense
c.2314G>A; p.A772T; 3:122284268-122284268	skin	malignant_melanoma	Substitution - Missense
c.1421G>T; p.G474V; 3:122275855-122275855	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1001T>C; p.L334P; 3:122262036-122262036	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.999C>T; p.F333F; 3:122262034-122262034	skin	malignant_melanoma	Substitution - coding silent
c.999C>T; p.F333F; 3:122262034-122262034	skin	malignant_melanoma	Substitution - coding silent
c.742G>C; p.D248H; 3:122261777-122261777	urinary_tract; bladder	carcinoma	Substitution - Missense
c.991C>T; p.R331W; 3:122262026-122262026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2007C>T; p.I669I; 3:122283961-122283961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3212T>A; p.V1071D; 3:122285166-122285166	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1344C>T; p.S448S; 3:122262379-122262379	skin	malignant_melanoma	Substitution - coding silent
c.3182G>A; p.S1061N; 3:122285136-122285136	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3064G>A; p.D1022N; 3:122285018-122285018	skin	malignant_melanoma	Substitution - Missense
c.2124C>A; p.A708A; 3:122284078-122284078	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.18C>A; p.C6*; 3:122254207-122254207	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.238G>A; p.E80K; 3:122257133-122257133	breast	carcinoma	Substitution - Missense
c.595G>C; p.D199H; 3:122261630-122261630	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1673A>G; p.E558G; 3:122282177-122282177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.288G>A; p.R96R; 3:122257183-122257183	skin	malignant_melanoma	Substitution - coding silent
c.2987A>C; p.N996T; 3:122284941-122284941	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.908C>T; p.S303F; 3:122261943-122261943	skin	malignant_melanoma	Substitution - Missense
c.2157G>C; p.W719C; 3:122284111-122284111	liver	carcinoma	Substitution - Missense
c.1912C>T; p.R638C; 3:122283866-122283866	skin	malignant_melanoma	Substitution - Missense
c.2987A>C; p.N996T; 3:122284941-122284941	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3054C>T; p.C1018C; 3:122285008-122285008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2008G>T; p.G670W; 3:122283962-122283962	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.290T>C; p.I97T; 3:122257185-122257185	liver	carcinoma	Substitution - Missense
c.290T>C; p.I97T; 3:122257185-122257185	liver	carcinoma	Substitution - Missense
c.1633G>T; p.D545Y; 3:122282137-122282137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1633G>T; p.D545Y; 3:122282137-122282137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.886A>C; p.S296R; 3:122261921-122261921	skin	malignant_melanoma	Substitution - Missense
c.1633G>T; p.D545Y; 3:122282137-122282137	large_intestine; colon	carcinoma	Substitution - Missense
c.1633G>T; p.D545Y; 3:122282137-122282137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2099A>G; p.N700S; 3:122284053-122284053	skin	malignant_melanoma	Substitution - Missense
c.2395G>A; p.E799K; 3:122284349-122284349	skin	malignant_melanoma	Substitution - Missense
c.2316C>T; p.A772A; 3:122284270-122284270	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1031A>T; p.H344L; 3:122262066-122262066	breast	carcinoma	Substitution - Missense
c.2242C>T; p.P748S; 3:122284196-122284196	skin	malignant_melanoma	Substitution - Missense
c.115C>T; p.P39S; 3:122254304-122254304	skin	malignant_melanoma	Substitution - Missense
c.1962C>T; p.L654L; 3:122283916-122283916	skin	malignant_melanoma	Substitution - coding silent
c.115C>T; p.P39S; 3:122254304-122254304	skin	malignant_melanoma	Substitution - Missense
c.2472C>T; p.A824A; 3:122284426-122284426	skin	malignant_melanoma	Substitution - coding silent
c.2325C>T; p.F775F; 3:122284279-122284279	skin	malignant_melanoma	Substitution - coding silent
c.2790G>A; p.Q930Q; 3:122284744-122284744	skin	malignant_melanoma	Substitution - coding silent
c.486T>G; p.I162M; 3:122257381-122257381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2643C>T; p.F881F; 3:122284597-122284597	skin	malignant_melanoma	Substitution - coding silent
c.1691A>G; p.E564G; 3:122282195-122282195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2158G>A; p.G720R; 3:122284112-122284112	skin	malignant_melanoma	Substitution - Missense
c.658C>T; p.R220W; 3:122261693-122261693	skin	malignant_melanoma	Substitution - Missense
c.2412C>A; p.A804A; 3:122284366-122284366	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.91G>A; p.D31N; 3:122254280-122254280	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2899A>G; p.I967V; 3:122284853-122284853	liver	carcinoma	Substitution - Missense
c.2135C>T; p.T712I; 3:122284089-122284089	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.229_250del22; p.I78fs*7; 3:122257124-122257145	breast	carcinoma	Deletion - Frameshift
c.2175C>T; p.F725F; 3:122284129-122284129	skin	malignant_melanoma	Substitution - coding silent
c.2941G>A; p.E981K; 3:122284895-122284895	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2864G>A; p.R955Q; 3:122284818-122284818	skin; neck	malignant_melanoma	Substitution - Missense
c.2175C>T; p.F725F; 3:122284129-122284129	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1461G>A; p.G487G; 3:122275895-122275895	skin	malignant_melanoma	Substitution - coding silent
c.84G>C; p.K28N; 3:122254273-122254273	skin	malignant_melanoma	Substitution - Missense
c.1861G>A; p.V621M; 3:122283815-122283815	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1232A>G; p.Y411C; 3:122262267-122262267	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1861G>A; p.V621M; 3:122283815-122283815	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.450C>T; p.S150S; 3:122257345-122257345	skin	malignant_melanoma	Substitution - coding silent
c.1672G>A; p.E558K; 3:122282176-122282176	skin	malignant_melanoma	Substitution - Missense
c.1842C>T; p.I614I; 3:122283796-122283796	skin	malignant_melanoma	Substitution - coding silent
c.1842C>T; p.I614I; 3:122283796-122283796	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1370C>T; p.A457V; 3:122262405-122262405	pancreas	carcinoma	Substitution - Missense
c.1163C>A; p.S388*; 3:122262198-122262198	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1842C>T; p.I614I; 3:122283796-122283796	skin	malignant_melanoma	Substitution - coding silent
c.2059A>G; p.S687G; 3:122284013-122284013	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.487C>T; p.P163S; 3:122257382-122257382	skin	malignant_melanoma	Substitution - Missense
c.2280C>T; p.I760I; 3:122284234-122284234	skin	malignant_melanoma	Substitution - coding silent
c.2591C>T; p.P864L; 3:122284545-122284545	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2280C>T; p.I760I; 3:122284234-122284234	skin	malignant_melanoma	Substitution - coding silent
c.2680G>A; p.V894I; 3:122284634-122284634	breast	carcinoma	Substitution - Missense
c.1735G>A; p.A579T; 3:122283689-122283689	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.195C>T; p.F65F; 3:122257090-122257090	skin	malignant_melanoma	Substitution - coding silent
c.487C>T; p.P163S; 3:122257382-122257382	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1705C>T; p.P569S; 3:122282209-122282209	skin	malignant_melanoma	Substitution - Missense
c.731C>T; p.S244F; 3:122261766-122261766	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.731C>T; p.S244F; 3:122261766-122261766	skin	malignant_melanoma	Substitution - Missense
c.1584C>T; p.I528I; 3:122276018-122276018	skin	malignant_melanoma	Substitution - coding silent
c.2190C>A; p.L730L; 3:122284144-122284144	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2100C>A; p.N700K; 3:122284054-122284054	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1378-1G>T; p.?; 3:122275811-122275811	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2679C>T; p.N893N; 3:122284633-122284633	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1837G>A; p.G613R; 3:122283791-122283791	skin; mucosal	malignant_melanoma	Substitution - Missense
c.198T>C; p.R66R; 3:122257093-122257093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.808T>C; p.F270L; 3:122261843-122261843	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.808T>C; p.F270L; 3:122261843-122261843	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2127G>T; p.K709N; 3:122284081-122284081	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2672G>C; p.R891P; 3:122284626-122284626	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.712G>A; p.D238N; 3:122261747-122261747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1422G>A; p.G474G; 3:122275856-122275856	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1318delG; p.R441fs*21; 3:122262353-122262353	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.205C>T; p.R69C; 3:122257100-122257100	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2422A>G; p.T808A; 3:122284376-122284376	breast	carcinoma	Substitution - Missense
c.603C>T; p.I201I; 3:122261638-122261638	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2467C>T; p.P823S; 3:122284421-122284421	skin	malignant_melanoma	Substitution - Missense
c.856C>T; p.R286C; 3:122261891-122261891	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1672G>T; p.E558*; 3:122282176-122282176	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1747A>G; p.N583D; 3:122283701-122283701	skin	malignant_melanoma	Substitution - Missense
c.2728C>A; p.P910T; 3:122284682-122284682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2938G>C; p.D980H; 3:122284892-122284892	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1537G>A; p.V513I; 3:122275971-122275971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.695A>G; p.E232G; 3:122261730-122261730	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2194A>G; p.T732A; 3:122284148-122284148	breast	carcinoma	Substitution - Missense
c.2346G>A; p.L782L; 3:122284300-122284300	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1706C>T; p.P569L; 3:122282210-122282210	skin	malignant_melanoma	Substitution - Missense
c.2459C>T; p.S820F; 3:122284413-122284413	skin	malignant_melanoma	Substitution - Missense
c.2948A>G; p.Q983R; 3:122284902-122284902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.126T>C; p.F42F; 3:122254315-122254315	skin	malignant_melanoma	Substitution - coding silent
c.595G>A; p.D199N; 3:122261630-122261630	skin	malignant_melanoma	Substitution - Missense
c.2054G>A; p.G685D; 3:122284008-122284008	skin	malignant_melanoma	Substitution - Missense
c.946G>A; p.G316S; 3:122261981-122261981	prostate	adenoma	Substitution - Missense
c.961G>A; p.A321T; 3:122261996-122261996	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2778G>A; p.Q926Q; 3:122284732-122284732	central_nervous_system; brain	glioma	Substitution - coding silent
c.1315C>A; p.P439T; 3:122262350-122262350	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1164G>A; p.S388S; 3:122262199-122262199	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.742G>A; p.D248N; 3:122261777-122261777	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2968A>G; p.R990G; 3:122284922-122284922	liver	carcinoma	Substitution - Missense
c.2767_2768CC>TT; p.P923L; 3:122284721-122284722	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1455G>C; p.L485L; 3:122275889-122275889	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1393C>T; p.R465W; 3:122275827-122275827	prostate	carcinoma	Substitution - Missense
c.993G>A; p.R331R; 3:122262028-122262028	skin	malignant_melanoma	Substitution - coding silent
c.550C>T; p.L184F; 3:122261585-122261585	skin	malignant_melanoma	Substitution - Missense
c.2244delG; p.S749fs*28; 3:122284198-122284198	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3044C>T; p.P1015L; 3:122284998-122284998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1175G>A; p.R392Q; 3:122262210-122262210	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1175G>A; p.R392Q; 3:122262210-122262210	skin	malignant_melanoma	Substitution - Missense
c.2768C>T; p.P923L; 3:122284722-122284722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2947C>G; p.Q983E; 3:122284901-122284901	breast	carcinoma	Substitution - Missense
c.2014C>A; p.P672T; 3:122283968-122283968	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2990C>T; p.S997F; 3:122284944-122284944	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.65C>T; p.P22L; 3:122254254-122254254	skin	malignant_melanoma	Substitution - Missense
c.2915C>T; p.T972M; 3:122284869-122284869	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2922C>T; p.T974T; 3:122284876-122284876	skin	malignant_melanoma	Substitution - coding silent
c.1287C>T; p.H429H; 3:122262322-122262322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2035C>A; p.L679M; 3:122283989-122283989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1810G>A; p.E604K; 3:122283764-122283764	central_nervous_system; brain	glioma	Substitution - Missense
c.680G>A; p.R227Q; 3:122261715-122261715	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2882G>A; p.R961K; 3:122284836-122284836	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.350delA; p.N118fs*6; 3:122257245-122257245	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift

COSMIC somatic mutation [Top]