Entrez Gene

Basic Information
Gene ID	1825
Name	DSC3
Synonymous	desmocollin 3;DSC3;desmocollin 3
Definition	cadherin family member 3\|desmocollin-3\|desmocollin-4
Position	18q12.1
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 0.12.

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.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

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]