lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	1825
Symbol	DSC3
Synonymous	CDHF3\|DSC\|DSC1\|DSC2\|DSC4\|HT-CP
Full name	desmocollin 3
Gene description	cadherin family member 3\|desmocollin-3\|desmocollin-4
Cytoband	18q12.1
Gene type	protein-coding
Synonymous	MIM:600271; HGNC:HGNC:3037; Ensembl:ENSG00000134762; HPRD:02604; Vega:OTTHUMG00000179622

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2285G>T; p.G762V; 18:30996999-30996999	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1213A>G; p.K405E; 18:31018121-31018121	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2306C>G; p.S769*; 18:30996978-30996978	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1730T>G; p.I577R; 18:31007065-31007065	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.145A>C; p.I49L; 18:31032201-31032201	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.457C>T; p.P153S; 18:31029526-31029526	skin	malignant_melanoma	Substitution - Missense
c.1103C>A; p.A368E; 18:31018231-31018231	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.526C>T; p.R176C; 18:31025864-31025864	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2046G>A; p.R682R; 18:31004209-31004209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2046G>A; p.R682R; 18:31004209-31004209	skin	malignant_melanoma	Substitution - coding silent
c.1143G>A; p.K381K; 18:31018191-31018191	skin	malignant_melanoma	Substitution - coding silent
c.1181C>T; p.T394I; 18:31018153-31018153	skin	malignant_melanoma	Substitution - Missense
c.2218C>T; p.P740S; 18:31001635-31001635	central_nervous_system; brain	glioma	Substitution - Missense
c.672T>A; p.D224E; 18:31024452-31024452	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2503C>T; p.R835*; 18:30994363-30994363	breast	carcinoma	Substitution - Nonsense
c.963G>A; p.L321L; 18:31018780-31018780	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.963G>A; p.L321L; 18:31018780-31018780	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.545C>T; p.P182L; 18:31025845-31025845	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.545C>T; p.P182L; 18:31025845-31025845	skin	malignant_melanoma	Substitution - Missense
c.2340A>C; p.E780D; 18:30996944-30996944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.545C>T; p.P182L; 18:31025845-31025845	skin	malignant_melanoma	Substitution - Missense
c.984G>T; p.M328I; 18:31018759-31018759	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>A; p.D446N; 18:31008453-31008453	skin	malignant_melanoma	Substitution - Missense
c.2383_2384insG; p.A795fs*37; 18:30996900-30996901	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1608G>T; p.E536D; 18:31008071-31008071	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1705G>T; p.D569Y; 18:31007090-31007090	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1227C>A; p.D409E; 18:31018107-31018107	liver	carcinoma	Substitution - Missense
c.414A>G; p.A138A; 18:31029569-31029569	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1227C>A; p.D409E; 18:31018107-31018107	liver	carcinoma	Substitution - Missense
c.607C>T; p.R203C; 18:31025783-31025783	skin	malignant_melanoma	Substitution - Missense
c.1969G>A; p.G657S; 18:31004286-31004286	skin	malignant_melanoma	Substitution - Missense
c.607C>T; p.R203C; 18:31025783-31025783	skin; trunk	malignant_melanoma	Substitution - Missense
c.607C>T; p.R203C; 18:31025783-31025783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1969G>A; p.G657S; 18:31004286-31004286	skin	malignant_melanoma	Substitution - Missense
c.607C>T; p.R203C; 18:31025783-31025783	skin	malignant_melanoma	Substitution - Missense
c.770G>T; p.R257I; 18:31024354-31024354	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2204C>T; p.S735L; 18:31001649-31001649	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.577G>A; p.G193R; 18:31025813-31025813	skin	malignant_melanoma	Substitution - Missense
c.2496A>T; p.K832N; 18:30994370-30994370	skin	malignant_melanoma	Substitution - Missense
c.1383T>A; p.H461Q; 18:31008406-31008406	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.578G>A; p.G193E; 18:31025812-31025812	skin	malignant_melanoma	Substitution - Missense
c.1435C>T; p.R479W; 18:31008354-31008354	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2259C>T; p.T753T; 18:30997025-30997025	skin	malignant_melanoma	Substitution - coding silent
c.1435C>T; p.R479W; 18:31008354-31008354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2173G>A; p.E725K; 18:31001680-31001680	skin	malignant_melanoma	Substitution - Missense
c.1343C>A; p.P448H; 18:31008446-31008446	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1334G>A; p.R445K; 18:31008455-31008455	skin	malignant_melanoma	Substitution - Missense
c.1022G>T; p.C341F; 18:31018721-31018721	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1022G>T; p.C341F; 18:31018721-31018721	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1494C>G; p.P498P; 18:31008295-31008295	liver	carcinoma	Substitution - coding silent
c.2364C>T; p.T788T; 18:30996920-30996920	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1120_1129del10; p.R375fs*1; 18:31018205-31018214	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1019C>A; p.T340N; 18:31018724-31018724	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.302A>G; p.K101R; 18:31031025-31031025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1576T>G; p.S526A; 18:31008103-31008103	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.872C>A; p.S291*; 18:31022406-31022406	skin	malignant_melanoma	Substitution - Nonsense
c.1605G>A; p.R535R; 18:31008074-31008074	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1285C>T; p.R429C; 18:31008504-31008504	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1809C>A; p.V603V; 18:31006986-31006986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.475-1G>T; p.?; 18:31025916-31025916	ovary	carcinoma; serous_carcinoma	Unknown
c.475-1G>T; p.?; 18:31025916-31025916	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.300C>A; p.D100E; 18:31031027-31031027	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1749C>G; p.V583V; 18:31007046-31007046	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2203T>C; p.S735P; 18:31001650-31001650	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1167G>A; p.W389*; 18:31018167-31018167	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.834G>A; p.T278T; 18:31022444-31022444	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.647C>G; p.S216*; 18:31024477-31024477	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1286G>T; p.R429L; 18:31008503-31008503	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1816G>A; p.A606T; 18:31006979-31006979	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2133A>G; p.V711V; 18:31001720-31001720	skin	malignant_melanoma	Substitution - coding silent
c.1767G>A; p.M589I; 18:31007028-31007028	skin; acral	malignant_melanoma	Substitution - Missense
c.475G>T; p.V159F; 18:31025915-31025915	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.205C>T; p.P69S; 18:31031122-31031122	skin	malignant_melanoma	Substitution - Missense
c.2281C>T; p.Q761*; 18:30997003-30997003	skin	malignant_melanoma	Substitution - Nonsense
c.110T>A; p.L37H; 18:31032236-31032236	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1197T>C; p.N399N; 18:31018137-31018137	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2688A>T; p.R896S; 18:30994178-30994178	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2479C>T; p.P827S; 18:30996805-30996805	skin	malignant_melanoma	Substitution - Missense
c.2067A>G; p.G689G; 18:31004188-31004188	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.122C>T; p.S41F; 18:31032224-31032224	skin; trunk	malignant_melanoma	Substitution - Missense
c.1813G>A; p.G605R; 18:31006982-31006982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2100A>G; p.I700M; 18:31004155-31004155	liver	carcinoma	Substitution - Missense
c.851T>G; p.I284S; 18:31022427-31022427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2020C>T; p.P674S; 18:31004235-31004235	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1102G>A; p.A368T; 18:31018232-31018232	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2309G>T; p.G770V; 18:30996975-30996975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1110T>C; p.N370N; 18:31018224-31018224	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2596T>A; p.C866S; 18:30994270-30994270	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1039G>T; p.D347Y; 18:31018704-31018704	prostate	carcinoma	Substitution - Missense
c.2596T>A; p.C866S; 18:30994270-30994270	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2196A>C; p.L732F; 18:31001657-31001657	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1473C>T; p.N491N; 18:31008316-31008316	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.471A>G; p.Q157Q; 18:31029512-31029512	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2479_2480CC>TT; p.P827F; 18:30996804-30996805	skin	malignant_melanoma	Substitution - Missense
c.450C>T; p.G150G; 18:31029533-31029533	skin	malignant_melanoma	Substitution - coding silent
c.155-4G>A; p.?; 18:31031176-31031176	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.2479_2480CC>TT; p.P827F; 18:30996804-30996805	skin	malignant_melanoma	Substitution - Missense
c.194G>A; p.R65Q; 18:31031133-31031133	pancreas	carcinoma	Substitution - Missense
c.2578C>T; p.P860S; 18:30994288-30994288	skin	malignant_melanoma	Substitution - Missense
c.1810C>T; p.H604Y; 18:31006985-31006985	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1810C>T; p.H604Y; 18:31006985-31006985	skin	malignant_melanoma	Substitution - Missense
c.1773T>A; p.Y591*; 18:31007022-31007022	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1048G>A; p.D350N; 18:31018695-31018695	skin	malignant_melanoma	Substitution - Missense
c.456C>T; p.F152F; 18:31029527-31029527	skin	malignant_melanoma	Substitution - coding silent
c.1743T>A; p.Y581*; 18:31007052-31007052	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1048G>A; p.D350N; 18:31018695-31018695	skin	malignant_melanoma	Substitution - Missense
c.456C>T; p.F152F; 18:31029527-31029527	skin	malignant_melanoma	Substitution - coding silent
c.1381C>A; p.H461N; 18:31008408-31008408	breast	carcinoma	Substitution - Missense
c.2346G>A; p.M782I; 18:30996938-30996938	skin	malignant_melanoma	Substitution - Missense
c.969G>A; p.M323I; 18:31018774-31018774	skin	malignant_melanoma	Substitution - Missense
c.1389G>T; p.R463S; 18:31008400-31008400	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2354G>A; p.G785E; 18:30996930-30996930	skin	malignant_melanoma	Substitution - Missense
c.351G>T; p.K117N; 18:31030976-31030976	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2387G>A; p.G796E; 18:30996897-30996897	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.819G>A; p.P273P; 18:31022459-31022459	thyroid	carcinoma	Substitution - coding silent
c.819G>A; p.P273P; 18:31022459-31022459	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.819G>A; p.P273P; 18:31022459-31022459	skin	malignant_melanoma	Substitution - coding silent
c.659G>A; p.G220E; 18:31024465-31024465	skin	malignant_melanoma	Substitution - Missense
c.1343C>T; p.P448L; 18:31008446-31008446	skin	malignant_melanoma	Substitution - Missense
c.2249G>A; p.G750E; 18:30997035-30997035	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.631T>C; p.L211L; 18:31024493-31024493	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1444G>T; p.E482*; 18:31008345-31008345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1901G>A; p.R634H; 18:31004354-31004354	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.231G>A; p.G77G; 18:31031096-31031096	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2663C>G; p.T888R; 18:30994203-30994203	central_nervous_system; brain	glioma	Substitution - Missense
c.2518G>T; p.E840*; 18:30994348-30994348	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1866G>T; p.L622L; 18:31006929-31006929	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.421C>A; p.P141T; 18:31029562-31029562	skin	malignant_melanoma	Substitution - Missense
c.438G>T; p.E146D; 18:31029545-31029545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.896C>T; p.P299L; 18:31022382-31022382	skin	malignant_melanoma	Substitution - Missense
c.1499A>C; p.N500T; 18:31008290-31008290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1260A>T; p.V420V; 18:31018074-31018074	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.310C>A; p.Q104K; 18:31031017-31031017	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.470A>G; p.Q157R; 18:31029513-31029513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.470A>G; p.Q157R; 18:31029513-31029513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2372C>T; p.S791F; 18:30996912-30996912	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1253C>A; p.S418Y; 18:31018081-31018081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1487A>G; p.Y496C; 18:31008302-31008302	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2482C>T; p.R828C; 18:30996802-30996802	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2482C>T; p.R828C; 18:30996802-30996802	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2482C>T; p.R828C; 18:30996802-30996802	large_intestine; colon	carcinoma	Substitution - Missense
c.2482C>T; p.R828C; 18:30996802-30996802	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2372C>T; p.S791F; 18:30996912-30996912	skin	malignant_melanoma	Substitution - Missense
c.258G>A; p.A86A; 18:31031069-31031069	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2487C>T; p.L829L; 18:30996797-30996797	skin; back	malignant_melanoma	Substitution - coding silent
c.1521-9delT; p.?; 18:31008167-31008167	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1124G>A; p.R375Q; 18:31018210-31018210	skin	malignant_melanoma	Substitution - Missense
c.938G>A; p.R313K; 18:31022340-31022340	skin	malignant_melanoma	Substitution - Missense
c.645G>A; p.A215A; 18:31024479-31024479	prostate	adenoma	Substitution - coding silent
c.226G>A; p.D76N; 18:31031101-31031101	skin	malignant_melanoma	Substitution - Missense
c.1109A>T; p.N370I; 18:31018225-31018225	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1115A>G; p.E372G; 18:31018219-31018219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.787G>T; p.G263W; 18:31022491-31022491	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.687A>G; p.L229L; 18:31024437-31024437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1463C>T; p.S488L; 18:31008326-31008326	urinary_tract; bladder	carcinoma	Substitution - Missense
c.463T>A; p.F155I; 18:31029520-31029520	skin	malignant_melanoma	Substitution - Missense
c.696G>T; p.R232S; 18:31024428-31024428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.374C>T; p.T125I; 18:31029609-31029609	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.322G>A; p.E108K; 18:31031005-31031005	skin	malignant_melanoma	Substitution - Missense
c.2672A>G; p.E891G; 18:30994194-30994194	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2539G>A; p.D847N; 18:30994327-30994327	skin	malignant_melanoma	Substitution - Missense
c.1039G>A; p.D347N; 18:31018704-31018704	skin	malignant_melanoma	Substitution - Missense
c.862A>C; p.T288P; 18:31022416-31022416	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1039G>A; p.D347N; 18:31018704-31018704	skin	malignant_melanoma	Substitution - Missense
c.880C>G; p.L294V; 18:31022398-31022398	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2313G>A; p.M771I; 18:30996971-30996971	skin	malignant_melanoma	Substitution - Missense
c.2313G>A; p.M771I; 18:30996971-30996971	skin	malignant_melanoma	Substitution - Missense
c.2365T>G; p.L789V; 18:30996919-30996919	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1149A>T; p.L383F; 18:31018185-31018185	skin	malignant_melanoma	Substitution - Missense
c.1288C>T; p.Q430*; 18:31008501-31008501	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.2488G>A; p.G830S; 18:30996796-30996796	skin	malignant_melanoma	Substitution - Missense
c.1489G>A; p.D497N; 18:31008300-31008300	skin	malignant_melanoma	Substitution - Missense
c.2351G>A; p.G784E; 18:30996933-30996933	skin	malignant_melanoma	Substitution - Missense
c.401A>G; p.K134R; 18:31029582-31029582	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.2351G>A; p.G784E; 18:30996933-30996933	skin; trunk	malignant_melanoma	Substitution - Missense
c.2009A>G; p.E670G; 18:31004246-31004246	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2036C>T; p.A679V; 18:31004219-31004219	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.476T>C; p.V159A; 18:31025914-31025914	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.433C>T; p.Q145*; 18:31029550-31029550	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.476T>C; p.V159A; 18:31025914-31025914	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1643C>G; p.T548R; 18:31008036-31008036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1849C>T; p.P617S; 18:31006946-31006946	skin	malignant_melanoma	Substitution - Missense
c.83C>A; p.A28D; 18:31032263-31032263	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1849C>T; p.P617S; 18:31006946-31006946	skin	malignant_melanoma	Substitution - Missense
c.1807G>A; p.V603I; 18:31006988-31006988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2494-1G>A; p.?; 18:30994373-30994373	skin; arm	malignant_melanoma	Unknown
c.1674A>T; p.S558S; 18:31007121-31007121	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.763A>C; p.S255R; 18:31024361-31024361	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2332A>T; p.T778S; 18:30996952-30996952	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.202G>T; p.D68Y; 18:31031125-31031125	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.E127K; 18:31029604-31029604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2457G>A; p.S819S; 18:30996827-30996827	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.425G>A; p.C142Y; 18:31029558-31029558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2160G>C; p.G720G; 18:31001693-31001693	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.119C>A; p.P40H; 18:31032227-31032227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.502A>G; p.T168A; 18:31025888-31025888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1001G>A; p.G334E; 18:31018742-31018742	skin	malignant_melanoma	Substitution - Missense
c.2053G>A; p.G685R; 18:31004202-31004202	skin	malignant_melanoma	Substitution - Missense
c.760G>A; p.E254K; 18:31024364-31024364	skin	malignant_melanoma	Substitution - Missense
c.738A>C; p.A246A; 18:31024386-31024386	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1231G>T; p.E411*; 18:31018103-31018103	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1111G>T; p.V371L; 18:31018223-31018223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1530delA; p.K510fs*19; 18:31008149-31008149	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2035G>A; p.A679T; 18:31004220-31004220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.100A>C; p.K34Q; 18:31032246-31032246	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1633T>C; p.Y545H; 18:31008046-31008046	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1520G>A; p.R507K; 18:31008269-31008269	skin	malignant_melanoma	Substitution - Missense
c.432G>T; p.M144I; 18:31029551-31029551	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1166G>A; p.W389*; 18:31018168-31018168	skin	malignant_melanoma	Substitution - Nonsense
c.1198G>A; p.E400K; 18:31018136-31018136	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2080C>A; p.L694I; 18:31004175-31004175	pancreas	carcinoma	Substitution - Missense
c.1965G>A; p.R655R; 18:31004290-31004290	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1965G>A; p.R655R; 18:31004290-31004290	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.964A>C; p.I322L; 18:31018779-31018779	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.430A>G; p.M144V; 18:31029553-31029553	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.964A>C; p.I322L; 18:31018779-31018779	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1796C>T; p.P599L; 18:31006999-31006999	skin	malignant_melanoma	Substitution - Missense
c.1912C>T; p.Q638*; 18:31004343-31004343	skin	malignant_melanoma	Substitution - Nonsense
c.2199T>C; p.I733I; 18:31001654-31001654	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2248G>A; p.G750R; 18:30997036-30997036	skin	malignant_melanoma	Substitution - Missense
c.2285G>A; p.G762D; 18:30996999-30996999	skin	malignant_melanoma	Substitution - Missense
c.2546T>C; p.V849A; 18:30994320-30994320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.128T>G; p.L43R; 18:31032218-31032218	liver	carcinoma	Substitution - Missense
c.128T>G; p.L43R; 18:31032218-31032218	liver	carcinoma	Substitution - Missense
c.2525G>T; p.R842L; 18:30994341-30994341	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1286G>A; p.R429H; 18:31008503-31008503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1907C>T; p.S636L; 18:31004348-31004348	skin	malignant_melanoma	Substitution - Missense
c.1390G>A; p.D464N; 18:31008399-31008399	skin	malignant_melanoma	Substitution - Missense
c.360G>A; p.S120S; 18:31029623-31029623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1086A>G; p.A362A; 18:31018248-31018248	liver	carcinoma	Substitution - coding silent
c.360G>A; p.S120S; 18:31029623-31029623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.360G>A; p.S120S; 18:31029623-31029623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1086A>G; p.A362A; 18:31018248-31018248	liver	carcinoma	Substitution - coding silent
c.360G>A; p.S120S; 18:31029623-31029623	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.1146T>A; p.D382E; 18:31018188-31018188	breast	carcinoma	Substitution - Missense
c.777T>C; p.G259G; 18:31022501-31022501	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.174C>T; p.F58F; 18:31031153-31031153	skin	malignant_melanoma	Substitution - coding silent
c.775G>A; p.G259S; 18:31024349-31024349	skin	malignant_melanoma	Substitution - Missense
c.2411G>A; p.C804Y; 18:30996873-30996873	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.421C>T; p.P141S; 18:31029562-31029562	skin	malignant_melanoma	Substitution - Missense
c.2486T>G; p.L829R; 18:30996798-30996798	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1797T>C; p.P599P; 18:31006998-31006998	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1459G>A; p.G487R; 18:31008330-31008330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1797T>C; p.P599P; 18:31006998-31006998	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1342C>T; p.P448S; 18:31008447-31008447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.676C>A; p.P226T; 18:31024448-31024448	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.606T>C; p.D202D; 18:31025784-31025784	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.833C>T; p.T278M; 18:31022445-31022445	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.833C>T; p.T278M; 18:31022445-31022445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.788G>A; p.G263E; 18:31022490-31022490	skin	malignant_melanoma	Substitution - Missense
c.551A>C; p.N184T; 18:31025839-31025839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1193G>A; p.G398E; 18:31018141-31018141	skin	malignant_melanoma	Substitution - Missense
c.1300G>A; p.E434K; 18:31008489-31008489	skin	malignant_melanoma	Substitution - Missense
c.2326C>T; p.Q776*; 18:30996958-30996958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.931T>G; p.L311V; 18:31022347-31022347	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.999delT; p.F333fs*3; 18:31018744-31018744	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2681C>T; p.T894I; 18:30994185-30994185	ovary	other; neoplasm	Substitution - Missense
c.1114G>A; p.E372K; 18:31018220-31018220	skin	malignant_melanoma	Substitution - Missense
c.2604T>A; p.S868R; 18:30994262-30994262	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2227G>A; p.D743N; 18:31001626-31001626	skin	malignant_melanoma	Substitution - Missense
c.1813G>T; p.G605*; 18:31006982-31006982	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2033G>A; p.R678H; 18:31004222-31004222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.541G>T; p.E181*; 18:31025849-31025849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1120T>G; p.L374V; 18:31018214-31018214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1682G>T; p.G561V; 18:31007113-31007113	autonomic_ganglia	neuroblastoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation