Entrez Gene

Basic Information
Gene ID	653
Name	BMP5
Synonymous	bone morphogenetic protein 5;BMP5;bone morphogenetic protein 5
Definition	BMP-5\|bone morphogenenic protein-5
Position	6p12.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.160G>A; p.E54K; 6:55874706-55874706	skin	malignant_melanoma	Substitution - Missense
c.160G>A; p.E54K; 6:55874706-55874706	skin; trunk	malignant_melanoma	Substitution - Missense
c.160G>A; p.E54K; 6:55874706-55874706	skin	malignant_melanoma	Substitution - Missense
c.160G>A; p.E54K; 6:55874706-55874706	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57G>A; p.W19*; 6:55874809-55874809	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.1348T>C; p.S450P; 6:55755550-55755550	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.829G>A; p.D277N; 6:55794282-55794282	skin	malignant_melanoma	Substitution - Missense
c.1087C>T; p.R363W; 6:55760474-55760474	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.877G>A; p.G293R; 6:55774199-55774199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	skin	malignant_melanoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	skin	malignant_melanoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	skin	malignant_melanoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	skin	malignant_melanoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	breast	carcinoma	Substitution - Missense
c.1282T>C; p.S428P; 6:55755616-55755616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	skin	malignant_melanoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.751G>T; p.D251Y; 6:55794360-55794360	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.962G>A; p.R321Q; 6:55774114-55774114	skin	malignant_melanoma	Substitution - Missense
c.1339G>A; p.V447I; 6:55755559-55755559	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1008C>T; p.S336S; 6:55774068-55774068	skin	malignant_melanoma	Substitution - coding silent
c.961C>T; p.R321*; 6:55774115-55774115	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.994C>T; p.H332Y; 6:55774082-55774082	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.961C>T; p.R321*; 6:55774115-55774115	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.961C>T; p.R321*; 6:55774115-55774115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.961C>T; p.R321*; 6:55774115-55774115	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.961C>T; p.R321*; 6:55774115-55774115	pancreas	carcinoma	Substitution - Nonsense
c.994C>T; p.H332Y; 6:55774082-55774082	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.374G>A; p.R125H; 6:55874492-55874492	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1270T>G; p.L424V; 6:55755628-55755628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1104+5G>A; p.?; 6:55760452-55760452	skin; trunk	malignant_melanoma; nodular	Unknown
c.100G>T; p.V34F; 6:55874766-55874766	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.900C>G; p.F300L; 6:55774176-55774176	liver	carcinoma	Substitution - Missense
c.292G>A; p.E98K; 6:55874574-55874574	skin	malignant_melanoma	Substitution - Missense
c.1344A>G; p.V448V; 6:55755554-55755554	breast	carcinoma	Substitution - coding silent
c.1069G>A; p.E357K; 6:55760492-55760492	skin	malignant_melanoma	Substitution - Missense
c.1069G>A; p.E357K; 6:55760492-55760492	skin	malignant_melanoma	Substitution - Missense
c.1069G>A; p.E357K; 6:55760492-55760492	skin	malignant_melanoma	Substitution - Missense
c.542G>A; p.R181Q; 6:55819796-55819796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>A; p.R181Q; 6:55819796-55819796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.290C>A; p.S97*; 6:55874576-55874576	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1292A>T; p.Y431F; 6:55755606-55755606	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.736G>T; p.G246C; 6:55794375-55794375	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.365G>T; p.G122V; 6:55874501-55874501	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.163A>C; p.I55L; 6:55874703-55874703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.146G>T; p.R49L; 6:55874720-55874720	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.879A>G; p.G293G; 6:55774197-55774197	skin	malignant_melanoma	Substitution - coding silent
c.846C>T; p.N282N; 6:55774230-55774230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.634G>A; p.E212K; 6:55819704-55819704	skin	malignant_melanoma	Substitution - Missense
c.836G>A; p.R279H; 6:55774240-55774240	liver	carcinoma	Substitution - Missense
c.836G>A; p.R279H; 6:55774240-55774240	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.146G>C; p.R49P; 6:55874720-55874720	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.337A>G; p.R113G; 6:55874529-55874529	urinary_tract; bladder	carcinoma	Substitution - Missense
c.926A>T; p.E309V; 6:55774150-55774150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1010G>C; p.R337T; 6:55774066-55774066	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.428C>G; p.A143G; 6:55874438-55874438	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.211G>A; p.G71R; 6:55874655-55874655	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.145C>T; p.R49W; 6:55874721-55874721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.125G>T; p.R42I; 6:55874741-55874741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1173C>T; p.N391N; 6:55759047-55759047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.23T>A; p.L8H; 6:55874843-55874843	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.596G>A; p.R199Q; 6:55819742-55819742	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.596G>A; p.R199Q; 6:55819742-55819742	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.490+7T>A; p.?; 6:55874369-55874369	liver	carcinoma	Unknown
c.490+7T>A; p.?; 6:55874369-55874369	liver	carcinoma	Unknown
c.513T>A; p.S171S; 6:55819825-55819825	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.878G>A; p.G293E; 6:55774198-55774198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1346G>A; p.R449H; 6:55755552-55755552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.342_343GG>AA; p.G115R; 6:55874523-55874524	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1109G>A; p.W370*; 6:55759111-55759111	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.73G>T; p.A25S; 6:55874793-55874793	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.884A>G; p.Q295R; 6:55774192-55774192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.276A>C; p.E92D; 6:55874590-55874590	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1151G>T; p.G384V; 6:55759069-55759069	liver	carcinoma	Substitution - Missense
c.1151G>T; p.G384V; 6:55759069-55759069	liver	carcinoma	Substitution - Missense
c.937C>T; p.R313*; 6:55774139-55774139	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.937C>T; p.R313*; 6:55774139-55774139	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.937C>T; p.R313*; 6:55774139-55774139	NS	malignant_melanoma	Substitution - Nonsense
c.937C>T; p.R313*; 6:55774139-55774139	skin	malignant_melanoma	Substitution - Nonsense
c.148G>A; p.E50K; 6:55874718-55874718	skin	malignant_melanoma	Substitution - Missense
c.111T>C; p.S37S; 6:55874755-55874755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.148G>A; p.E50K; 6:55874718-55874718	skin	malignant_melanoma	Substitution - Missense
c.111T>C; p.S37S; 6:55874755-55874755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.111T>C; p.S37S; 6:55874755-55874755	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.111T>C; p.S37S; 6:55874755-55874755	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.358C>T; p.P120S; 6:55874508-55874508	skin	malignant_melanoma	Substitution - Missense
c.164_165delTT; p.I55fs*36; 6:55874701-55874702	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.222G>A; p.A74A; 6:55874644-55874644	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.261C>A; p.A87A; 6:55874605-55874605	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.865G>C; p.V289L; 6:55774211-55774211	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240G>A; p.V414I; 6:55755658-55755658	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.203T>C; p.F68S; 6:55874663-55874663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>T; p.T136T; 6:55874458-55874458	skin	malignant_melanoma	Substitution - coding silent
c.663C>T; p.I221I; 6:55819675-55819675	skin	malignant_melanoma	Substitution - coding silent
c.663C>T; p.I221I; 6:55819675-55819675	skin	malignant_melanoma	Substitution - coding silent
c.938G>A; p.R313Q; 6:55774138-55774138	skin	malignant_melanoma	Substitution - Missense
c.938G>A; p.R313Q; 6:55774138-55774138	skin	malignant_melanoma	Substitution - Missense
c.938G>A; p.R313Q; 6:55774138-55774138	skin	malignant_melanoma	Substitution - Missense
c.166C>T; p.L56F; 6:55874700-55874700	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1250C>T; p.P417L; 6:55755648-55755648	skin; axilla	malignant_melanoma	Substitution - Missense
c.166C>T; p.L56F; 6:55874700-55874700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.436C>T; p.H146Y; 6:55874430-55874430	skin	malignant_melanoma	Substitution - Missense
c.1042G>A; p.E348K; 6:55760519-55760519	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.170C>G; p.S57C; 6:55874696-55874696	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>T; p.R326L; 6:55774099-55774099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.611G>A; p.R204Q; 6:55819727-55819727	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1219C>T; p.H407Y; 6:55755679-55755679	skin	malignant_melanoma	Substitution - Missense
c.977G>A; p.R326H; 6:55774099-55774099	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.977G>A; p.R326H; 6:55774099-55774099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.977G>A; p.R326H; 6:55774099-55774099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.977G>A; p.R326H; 6:55774099-55774099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>A; p.R326H; 6:55774099-55774099	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>A; p.L79L; 6:55874629-55874629	skin	malignant_melanoma	Substitution - coding silent
c.446A>G; p.N149S; 6:55874420-55874420	skin	malignant_melanoma	Substitution - Missense
c.670G>T; p.E224*; 6:55819668-55819668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.871A>C; p.R291R; 6:55774205-55774205	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.920C>T; p.A307V; 6:55774156-55774156	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.920C>T; p.A307V; 6:55774156-55774156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.225C>T; p.S75S; 6:55874641-55874641	thyroid	carcinoma	Substitution - coding silent
c.968A>G; p.N323S; 6:55774108-55774108	liver	carcinoma	Substitution - Missense
c.392G>A; p.R131Q; 6:55874474-55874474	prostate	carcinoma	Substitution - Missense
c.968A>G; p.N323S; 6:55774108-55774108	liver	carcinoma	Substitution - Missense
c.1345C>T; p.R449C; 6:55755553-55755553	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1345C>T; p.R449C; 6:55755553-55755553	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1345C>T; p.R449C; 6:55755553-55755553	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1345C>T; p.R449C; 6:55755553-55755553	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.846C>A; p.N282K; 6:55774230-55774230	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1022T>C; p.V341A; 6:55774054-55774054	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1293C>T; p.Y431Y; 6:55755605-55755605	ovary	other; neoplasm	Substitution - coding silent
c.1330A>G; p.R444G; 6:55755568-55755568	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.863T>C; p.L288P; 6:55774213-55774213	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.992C>T; p.S331F; 6:55774084-55774084	skin	malignant_melanoma	Substitution - Missense
c.208C>G; p.P70A; 6:55874658-55874658	liver	carcinoma	Substitution - Missense
c.208C>G; p.P70A; 6:55874658-55874658	liver	carcinoma	Substitution - Missense
c.1126G>A; p.G376R; 6:55759094-55759094	skin	malignant_melanoma	Substitution - Missense
c.852A>C; p.K284N; 6:55774224-55774224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.P134S; 6:55874466-55874466	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1036A>G; p.T346A; 6:55760525-55760525	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1058G>A; p.C353Y; 6:55760503-55760503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1010G>A; p.R337K; 6:55774066-55774066	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.580A>G; p.T194A; 6:55819758-55819758	pancreas	carcinoma	Substitution - Missense
c.1135G>T; p.A379S; 6:55759085-55759085	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.521G>A; p.R174Q; 6:55819817-55819817	skin	malignant_melanoma	Substitution - Missense
c.726T>G; p.A242A; 6:55794385-55794385	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1029T>A; p.D343E; 6:55760532-55760532	skin	malignant_melanoma	Substitution - Missense
c.864T>C; p.L288L; 6:55774212-55774212	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.219A>G; p.Q73Q; 6:55874647-55874647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.738T>C; p.G246G; 6:55794373-55794373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1151G>A; p.G384E; 6:55759069-55759069	skin	malignant_melanoma	Substitution - Missense
c.562_563CC>TT; p.P188F; 6:55819775-55819776	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.319G>A; p.E107K; 6:55874547-55874547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.322G>T; p.E108*; 6:55874544-55874544	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.125G>A; p.R42K; 6:55874741-55874741	skin	malignant_melanoma	Substitution - Missense
c.1174G>A; p.A392T; 6:55759046-55759046	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1062G>A; p.K354K; 6:55760499-55760499	skin	malignant_melanoma	Substitution - coding silent
c.1062G>A; p.K354K; 6:55760499-55760499	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.308C>A; p.A103E; 6:55874558-55874558	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1150G>A; p.G384R; 6:55759070-55759070	soft_tissue; striated_muscle	rhabdomyosarcoma; sclerosing	Substitution - Missense
c.535G>T; p.E179*; 6:55819803-55819803	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.389C>T; p.S130F; 6:55874477-55874477	skin	malignant_melanoma	Substitution - Missense
c.366G>A; p.G122G; 6:55874500-55874500	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.921G>A; p.A307A; 6:55774155-55774155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.921G>A; p.A307A; 6:55774155-55774155	skin	malignant_melanoma	Substitution - coding silent
c.921G>A; p.A307A; 6:55774155-55774155	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.921G>A; p.A307A; 6:55774155-55774155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.884_885AG>TA; p.Q295L; 6:55774191-55774192	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1358G>T; p.C453F; 6:55755540-55755540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.372T>C; p.P124P; 6:55874494-55874494	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.943G>A; p.V315M; 6:55774133-55774133	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.376C>T; p.R126C; 6:55874490-55874490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1211C>T; p.T404I; 6:55759009-55759009	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.228T>G; p.S76S; 6:55874638-55874638	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.79G>T; p.G27*; 6:55874787-55874787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.36G>T; p.V12V; 6:55874830-55874830	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.79G>T; p.G27*; 6:55874787-55874787	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Nonsense
c.1338G>T; p.M446I; 6:55755560-55755560	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1253G>T; p.C418F; 6:55755645-55755645	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.104A>T; p.H35L; 6:55874762-55874762	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.267C>A; p.T89T; 6:55874599-55874599	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.132G>A; p.R44R; 6:55874734-55874734	skin	malignant_melanoma	Substitution - coding silent
c.1202T>G; p.I401R; 6:55759018-55759018	liver	carcinoma	Substitution - Missense
c.139G>A; p.E47K; 6:55874727-55874727	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.139G>A; p.E47K; 6:55874727-55874727	skin	malignant_melanoma	Substitution - Missense
c.1361A>G; p.H454R; 6:55755537-55755537	pancreas	carcinoma	Substitution - Missense
c.1361A>G; p.H454R; 6:55755537-55755537	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.139G>A; p.E47K; 6:55874727-55874727	skin	malignant_melanoma	Substitution - Missense
c.1202T>G; p.I401R; 6:55759018-55759018	liver	carcinoma	Substitution - Missense
c.717G>A; p.K239K; 6:55794394-55794394	skin	malignant_melanoma	Substitution - coding silent
c.506A>G; p.D169G; 6:55819832-55819832	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1166C>T; p.P389L; 6:55759054-55759054	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1029T>G; p.D343E; 6:55760532-55760532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.324G>A; p.E108E; 6:55874542-55874542	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.997C>T; p.Q333*; 6:55774079-55774079	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.620A>G; p.N207S; 6:55819718-55819718	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.683G>T; p.R228M; 6:55819655-55819655	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.143G>T; p.R48I; 6:55874723-55874723	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.541C>T; p.R181*; 6:55819797-55819797	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.934C>T; p.L312F; 6:55774142-55774142	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.736G>A; p.G246S; 6:55794375-55794375	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.491-3C>A; p.?; 6:55819850-55819850	pancreas	carcinoma	Unknown
c.414G>C; p.Q138H; 6:55874452-55874452	breast	carcinoma	Substitution - Missense
c.367T>A; p.Y123N; 6:55874499-55874499	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1127G>A; p.G376E; 6:55759093-55759093	skin	malignant_melanoma	Substitution - Missense
c.869G>A; p.G290E; 6:55774207-55774207	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.869G>A; p.G290E; 6:55774207-55774207	skin	malignant_melanoma	Substitution - Missense
c.869G>A; p.G290E; 6:55774207-55774207	skin	malignant_melanoma	Substitution - Missense
c.737G>T; p.G246V; 6:55794374-55794374	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.355T>C; p.S119P; 6:55874511-55874511	breast	carcinoma	Substitution - Missense
c.683+1G>T; p.?; 6:55819654-55819654	lung	carcinoma; small_cell_carcinoma	Unknown
c.623G>A; p.R208Q; 6:55819715-55819715	skin	malignant_melanoma	Substitution - Missense
c.1108T>C; p.W370R; 6:55759112-55759112	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.623G>A; p.R208Q; 6:55819715-55819715	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.623G>A; p.R208Q; 6:55819715-55819715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.623G>A; p.R208Q; 6:55819715-55819715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.623G>A; p.R208Q; 6:55819715-55819715	skin	malignant_melanoma	Substitution - Missense
c.601T>C; p.Y201H; 6:55819737-55819737	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.401C>T; p.P134L; 6:55874465-55874465	skin	malignant_melanoma	Substitution - Missense
c.785A>C; p.N262T; 6:55794326-55794326	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.435C>T; p.L145L; 6:55874431-55874431	skin	malignant_melanoma	Substitution - coding silent
c.148G>T; p.E50*; 6:55874718-55874718	breast	carcinoma	Substitution - Nonsense
c.737G>A; p.G246D; 6:55794374-55794374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]