Entrez Gene

Basic Information
Gene ID	1003
Name	CDH5
Synonymous	cadherin 5, type 2 (vascular endothelium);CDH5;cadherin 5, type 2 (vascular endothelium)
Definition	7B4 antigen\|VE-cadherin\|cadherin 5, type 2, VE-cadherin (vascular epithelium)\|cadherin-5\|cd144 antigen\|endothelial-specific cadherin\|vascular endothelial cadherin
Position	16q22.1
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 0.08.

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.72A>T; p.A24A; 16:66379409-66379409	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.499G>A; p.G167R; 16:66387097-66387097	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.37G>T; p.A13S; 16:66379374-66379374	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.105C>T; p.T35T; 16:66379442-66379442	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2244C>A; p.T748T; 16:66403058-66403058	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.568A>T; p.M190L; 16:66388392-66388392	liver	carcinoma	Substitution - Missense
c.568A>T; p.M190L; 16:66388392-66388392	liver	carcinoma	Substitution - Missense
c.474G>A; p.A158A; 16:66387072-66387072	prostate	carcinoma	Substitution - coding silent
c.227G>C; p.S76T; 16:66386825-66386825	urinary_tract; bladder	carcinoma	Substitution - Missense
c.227G>C; p.S76T; 16:66386825-66386825	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1598C>T; p.T533M; 16:66400777-66400777	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2087C>A; p.P696H; 16:66402901-66402901	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1746C>T; p.G582G; 16:66400925-66400925	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.919A>G; p.T307A; 16:66390540-66390540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1382C>T; p.S461F; 16:66398003-66398003	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2284G>T; p.D762Y; 16:66403098-66403098	kidney	other; neoplasm	Substitution - Missense
c.1228C>T; p.R410C; 16:66396069-66396069	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1228C>T; p.R410C; 16:66396069-66396069	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.473C>T; p.A158V; 16:66387071-66387071	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>A; p.E198K; 16:66388416-66388416	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.473C>T; p.A158V; 16:66387071-66387071	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.900C>T; p.G300G; 16:66390521-66390521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5A>C; p.Q2P; 16:66379342-66379342	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1431G>A; p.P477P; 16:66398052-66398052	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.890T>C; p.I297T; 16:66390511-66390511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1361G>T; p.G454V; 16:66397982-66397982	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.688C>T; p.R230*; 16:66389429-66389429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1162C>A; p.P388T; 16:66392328-66392328	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.895C>T; p.R299W; 16:66390516-66390516	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2143G>A; p.E715K; 16:66402957-66402957	skin	malignant_melanoma	Substitution - Missense
c.895C>T; p.R299W; 16:66390516-66390516	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1734C>A; p.C578*; 16:66400913-66400913	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.912C>T; p.D304D; 16:66390533-66390533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.901G>A; p.D301N; 16:66390522-66390522	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1723G>A; p.V575M; 16:66400902-66400902	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1723G>A; p.V575M; 16:66400902-66400902	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2027C>A; p.P676H; 16:66402841-66402841	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2166delC; p.Y725fs*15; 16:66402980-66402980	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1543A>G; p.K515E; 16:66398513-66398513	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1543A>G; p.K515E; 16:66398513-66398513	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1723G>A; p.V575M; 16:66400902-66400902	pancreas	carcinoma	Substitution - Missense
c.1060G>A; p.G354R; 16:66392226-66392226	skin	malignant_melanoma	Substitution - Missense
c.1345G>T; p.E449*; 16:66396186-66396186	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1873C>T; p.R625W; 16:66402687-66402687	skin	malignant_melanoma	Substitution - Missense
c.1359T>A; p.T453T; 16:66396200-66396200	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1868G>A; p.R623Q; 16:66402682-66402682	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2289G>A; p.W763*; 16:66403103-66403103	prostate	carcinoma	Substitution - Nonsense
c.2333C>T; p.P778L; 16:66403147-66403147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2074C>T; p.P692S; 16:66402888-66402888	pancreas	carcinoma	Substitution - Missense
c.2194G>A; p.G732S; 16:66403008-66403008	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.637A>C; p.K213Q; 16:66389378-66389378	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2194G>A; p.G732S; 16:66403008-66403008	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2084C>T; p.A695V; 16:66402898-66402898	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.969_969+1GG>AA; p.?; 16:66390590-66390591	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1289A>T; p.E430V; 16:66396130-66396130	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1009G>A; p.V337I; 16:66392175-66392175	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.904T>A; p.Y302N; 16:66390525-66390525	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1009G>A; p.V337I; 16:66392175-66392175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.940C>A; p.H314N; 16:66390561-66390561	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.936C>T; p.P312P; 16:66390557-66390557	central_nervous_system; brain	glioma	Substitution - coding silent
c.429C>T; p.D143D; 16:66387027-66387027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2000G>A; p.R667H; 16:66402814-66402814	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1373G>A; p.G458E; 16:66397994-66397994	skin	malignant_melanoma	Substitution - Missense
c.914C>T; p.A305V; 16:66390535-66390535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.680T>A; p.V227E; 16:66389421-66389421	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.949G>A; p.G317S; 16:66390570-66390570	skin	malignant_melanoma	Substitution - Missense
c.1862G>T; p.R621L; 16:66402676-66402676	thyroid	other; neoplasm	Substitution - Missense
c.269G>C; p.G90A; 16:66386867-66386867	skin; leg	malignant_melanoma	Substitution - Missense
c.1648G>A; p.V550I; 16:66400827-66400827	liver	carcinoma	Substitution - Missense
c.1648G>A; p.V550I; 16:66400827-66400827	liver	carcinoma	Substitution - Missense
c.1582G>A; p.D528N; 16:66398552-66398552	skin; arm	malignant_melanoma	Substitution - Missense
c.2219C>T; p.A740V; 16:66403033-66403033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1630G>C; p.D544H; 16:66400809-66400809	pancreas	carcinoma	Substitution - Missense
c.1939G>A; p.E647K; 16:66402753-66402753	skin	malignant_melanoma	Substitution - Missense
c.1975G>A; p.D659N; 16:66402789-66402789	skin	malignant_melanoma	Substitution - Missense
c.735G>A; p.L245L; 16:66389476-66389476	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2003G>A; p.R668H; 16:66402817-66402817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1503C>T; p.S501S; 16:66398473-66398473	prostate	carcinoma	Substitution - coding silent
c.1717G>A; p.V573M; 16:66400896-66400896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1402G>A; p.E468K; 16:66398023-66398023	skin	malignant_melanoma	Substitution - Missense
c.2253C>T; p.S751S; 16:66403067-66403067	skin	malignant_melanoma	Substitution - coding silent
c.2253C>T; p.S751S; 16:66403067-66403067	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2181G>T; p.T727T; 16:66402995-66402995	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.256G>A; p.G86R; 16:66386854-66386854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2108G>A; p.G703E; 16:66402922-66402922	skin	malignant_melanoma	Substitution - Missense
c.2110G>A; p.E704K; 16:66402924-66402924	skin	malignant_melanoma	Substitution - Missense
c.1498A>C; p.I500L; 16:66398468-66398468	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2244C>T; p.T748T; 16:66403058-66403058	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1594A>G; p.N532D; 16:66400773-66400773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2165_2166insC; p.Y725fs*30; 16:66402979-66402980	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1008C>T; p.I336I; 16:66392174-66392174	skin	malignant_melanoma	Substitution - coding silent
c.1008C>T; p.I336I; 16:66392174-66392174	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2142C>G; p.D714E; 16:66402956-66402956	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1470C>T; p.N490N; 16:66398091-66398091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2227C>T; p.L743F; 16:66403041-66403041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1697C>T; p.T566M; 16:66400876-66400876	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.341C>T; p.S114L; 16:66386939-66386939	liver	carcinoma	Substitution - Missense
c.542C>A; p.P181H; 16:66388366-66388366	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.341C>T; p.S114L; 16:66386939-66386939	liver	carcinoma	Substitution - Missense
c.1038C>G; p.L346L; 16:66392204-66392204	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2038G>A; p.A680T; 16:66402852-66402852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1917C>T; p.H639H; 16:66402731-66402731	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.466T>C; p.F156L; 16:66387064-66387064	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.689G>A; p.R230Q; 16:66389430-66389430	skin	malignant_melanoma	Substitution - Missense
c.1710G>A; p.T570T; 16:66400889-66400889	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516G>A; p.D506N; 16:66398486-66398486	skin	malignant_melanoma	Substitution - Missense
c.616G>T; p.G206*; 16:66388440-66388440	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1710G>A; p.T570T; 16:66400889-66400889	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.285C>T; p.V95V; 16:66386883-66386883	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1167G>C; p.L389L; 16:66392333-66392333	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.285C>T; p.V95V; 16:66386883-66386883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.285C>T; p.V95V; 16:66386883-66386883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.967A>G; p.K323E; 16:66390588-66390588	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1738G>A; p.E580K; 16:66400917-66400917	skin	malignant_melanoma	Substitution - Missense
c.2076G>A; p.P692P; 16:66402890-66402890	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1738G>A; p.E580K; 16:66400917-66400917	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1246G>A; p.G416S; 16:66396087-66396087	skin	malignant_melanoma	Substitution - Missense
c.709_710GG>AA; p.G237K; 16:66389450-66389451	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1421A>G; p.D474G; 16:66398042-66398042	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1580C>T; p.T527M; 16:66398550-66398550	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1266A>C; p.T422T; 16:66396107-66396107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2107G>A; p.G703R; 16:66402921-66402921	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>T; p.D179D; 16:66388361-66388361	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2023C>T; p.R675W; 16:66402837-66402837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1449C>T; p.Y483Y; 16:66398070-66398070	skin	malignant_melanoma	Substitution - coding silent
c.706C>T; p.R236W; 16:66389447-66389447	skin	malignant_melanoma	Substitution - Missense
c.1862G>A; p.R621Q; 16:66402676-66402676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1258C>T; p.R420*; 16:66396099-66396099	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.2178C>A; p.D726E; 16:66402992-66402992	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1575C>T; p.T525T; 16:66398545-66398545	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039C>T; p.R347*; 16:66392205-66392205	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1683G>A; p.G561G; 16:66400862-66400862	skin	malignant_melanoma	Substitution - coding silent
c.687G>A; p.A229A; 16:66389428-66389428	pancreas	carcinoma	Substitution - coding silent
c.1157A>G; p.K386R; 16:66392323-66392323	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1824C>A; p.I608I; 16:66401003-66401003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1836A>T; p.T612T; 16:66401015-66401015	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1599G>A; p.T533T; 16:66400778-66400778	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - coding silent
c.236A>C; p.N79T; 16:66386834-66386834	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1365C>T; p.T455T; 16:66397986-66397986	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2029G>A; p.A677T; 16:66402843-66402843	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2157C>T; p.D719D; 16:66402971-66402971	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2194G>T; p.G732C; 16:66403008-66403008	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.93C>T; p.A31A; 16:66379430-66379430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.928A>G; p.T310A; 16:66390549-66390549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1554G>T; p.L518F; 16:66398524-66398524	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.447T>C; p.P149P; 16:66387045-66387045	thyroid	other; neoplasm	Substitution - coding silent
c.709G>A; p.G237R; 16:66389450-66389450	skin; mucosal	malignant_melanoma	Substitution - Missense
c.598T>A; p.F200I; 16:66388422-66388422	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.299G>A; p.G100E; 16:66386897-66386897	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.636G>A; p.T212T; 16:66389377-66389377	skin	malignant_melanoma	Substitution - coding silent
c.2230A>G; p.S744G; 16:66403044-66403044	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1184C>G; p.A395G; 16:66392350-66392350	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1103A>T; p.E368V; 16:66392269-66392269	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1245G>T; p.K415N; 16:66396086-66396086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.808G>C; p.D270H; 16:66390429-66390429	breast	carcinoma	Substitution - Missense
c.1011C>T; p.V337V; 16:66392177-66392177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2057C>T; p.A686V; 16:66402871-66402871	skin	malignant_melanoma	Substitution - Missense
c.2175C>T; p.Y725Y; 16:66402989-66402989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.559G>A; p.A187T; 16:66388383-66388383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1218-3C>A; p.?; 16:66396056-66396056	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.987C>T; p.Y329Y; 16:66392153-66392153	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1517A>T; p.D506V; 16:66398487-66398487	central_nervous_system; brain	glioma	Substitution - Missense
c.1517A>T; p.D506V; 16:66398487-66398487	central_nervous_system; cerebrum	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2253_2254CG>TA; p.D752N; 16:66403067-66403068	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1541T>A; p.F514Y; 16:66398511-66398511	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1803G>T; p.V601V; 16:66400982-66400982	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1629T>G; p.F543L; 16:66400808-66400808	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.A502T; 16:66398474-66398474	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.A502T; 16:66398474-66398474	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1550T>C; p.I517T; 16:66398520-66398520	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2025G>A; p.R675R; 16:66402839-66402839	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1550T>C; p.I517T; 16:66398520-66398520	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1550T>C; p.I517T; 16:66398520-66398520	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1864C>T; p.R622W; 16:66402678-66402678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.91G>A; p.A31T; 16:66379428-66379428	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.46G>A; p.G16S; 16:66379383-66379383	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.662C>A; p.A221D; 16:66389403-66389403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1529G>A; p.R510Q; 16:66398499-66398499	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1278C>T; p.D426D; 16:66396119-66396119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1529G>A; p.R510Q; 16:66398499-66398499	urinary_tract; bladder	carcinoma	Substitution - Missense
c.768C>T; p.P256P; 16:66389509-66389509	skin	malignant_melanoma	Substitution - coding silent
c.1414G>A; p.E472K; 16:66398035-66398035	urinary_tract; bladder	carcinoma	Substitution - Missense
c.201T>A; p.H67Q; 16:66379538-66379538	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1216G>T; p.G406*; 16:66392382-66392382	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1378G>T; p.E460*; 16:66397999-66397999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1804G>C; p.V602L; 16:66400983-66400983	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1216G>T; p.G406*; 16:66392382-66392382	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1554G>A; p.L518L; 16:66398524-66398524	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.259G>A; p.E87K; 16:66386857-66386857	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1937A>G; p.D646G; 16:66402751-66402751	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1937A>G; p.D646G; 16:66402751-66402751	large_intestine; colon	carcinoma	Substitution - Missense
c.1937A>G; p.D646G; 16:66402751-66402751	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1201G>A; p.A401T; 16:66392367-66392367	liver	carcinoma	Substitution - Missense
c.1201G>A; p.A401T; 16:66392367-66392367	liver	carcinoma	Substitution - Missense
c.1774G>A; p.A592T; 16:66400953-66400953	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.468C>A; p.F156L; 16:66387066-66387066	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.468C>A; p.F156L; 16:66387066-66387066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.844G>T; p.V282F; 16:66390465-66390465	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1725G>T; p.V575V; 16:66400904-66400904	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.172G>A; p.E58K; 16:66379509-66379509	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.172G>A; p.E58K; 16:66379509-66379509	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2032C>T; p.L678L; 16:66402846-66402846	skin	malignant_melanoma	Substitution - coding silent
c.172G>A; p.E58K; 16:66379509-66379509	urinary_tract; bladder	carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.422T>A; p.V141D; 16:66387020-66387020	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1551C>T; p.I517I; 16:66398521-66398521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1551C>T; p.I517I; 16:66398521-66398521	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1854C>T; p.I618I; 16:66402668-66402668	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.896G>A; p.R299Q; 16:66390517-66390517	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.896G>A; p.R299Q; 16:66390517-66390517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.641G>T; p.S214I; 16:66389382-66389382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>A; p.V643I; 16:66402741-66402741	central_nervous_system; brain	glioma	Substitution - Missense
c.780G>T; p.Q260H; 16:66389521-66389521	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1254C>T; p.F418F; 16:66396095-66396095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2271C>T; p.Y757Y; 16:66403085-66403085	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.960G>A; p.K320K; 16:66390581-66390581	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.833G>A; p.G278D; 16:66390454-66390454	skin	malignant_melanoma	Substitution - Missense
c.303C>T; p.D101D; 16:66386901-66386901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.235A>G; p.N79D; 16:66386833-66386833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.303C>T; p.D101D; 16:66386901-66386901	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.235A>G; p.N79D; 16:66386833-66386833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>A; p.A353T; 16:66392223-66392223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2083G>A; p.A695T; 16:66402897-66402897	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>A; p.A353T; 16:66392223-66392223	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>A; p.A353T; 16:66392223-66392223	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>A; p.A353T; 16:66392223-66392223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1229G>A; p.R410H; 16:66396070-66396070	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.105C>A; p.T35T; 16:66379442-66379442	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2163C>T; p.D721D; 16:66402977-66402977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.920C>T; p.T307I; 16:66390541-66390541	skin	malignant_melanoma	Substitution - Missense
c.2127C>T; p.I709I; 16:66402941-66402941	skin	malignant_melanoma	Substitution - coding silent
c.950G>A; p.G317D; 16:66390571-66390571	skin; mucosal	malignant_melanoma	Substitution - Missense
c.72A>G; p.A24A; 16:66379409-66379409	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.945C>T; p.N315N; 16:66390566-66390566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.945C>T; p.N315N; 16:66390566-66390566	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1200G>A; p.A400A; 16:66392366-66392366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

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]