Entrez Gene

Basic Information
Gene ID	1015
Name	CDH17
Synonymous	cadherin 17, LI cadherin (liver-intestine);CDH17;cadherin 17, LI cadherin (liver-intestine)
Definition	HPT-1 cadherin\|LI cadherin\|LI-cadherin\|cadherin-16\|cadherin-17\|human intestinal peptide-associated transporter HPT-1\|human peptide transporter 1\|intestinal peptide-associated transporter HPT-1\|liver-intestine cadherin
Position	8q22.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.969G>A; p.P323P; 8:94170494-94170494	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2103C>A; p.P701P; 8:94145992-94145992	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.269C>G; p.S90C; 8:94177603-94177603	breast	carcinoma	Substitution - Missense
c.1012C>A; p.P338T; 8:94170451-94170451	breast	carcinoma	Substitution - Missense
c.1371G>C; p.L457L; 8:94160151-94160151	breast	carcinoma	Substitution - coding silent
c.1432G>A; p.D478N; 8:94160090-94160090	breast	carcinoma	Substitution - Missense
c.882G>T; p.V294V; 8:94170887-94170887	breast	carcinoma	Substitution - coding silent
c.360C>T; p.N120N; 8:94176605-94176605	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2320C>T; p.R774W; 8:94130704-94130704	central_nervous_system; brain	glioma	Substitution - Missense
c.1047C>T; p.V349V; 8:94170416-94170416	central_nervous_system; brain	glioma	Substitution - coding silent
c.255C>T; p.D85D; 8:94177617-94177617	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1531G>A; p.G511R; 8:94159991-94159991	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2275T>C; p.S759P; 8:94130885-94130885	central_nervous_system; brain	glioma	Substitution - Missense
c.878A>G; p.Y293C; 8:94170891-94170891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.393C>T; p.Y131Y; 8:94176572-94176572	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.300C>T; p.D100D; 8:94176665-94176665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1820G>T; p.R607I; 8:94148851-94148851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1262C>T; p.T421M; 8:94165781-94165781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2035C>A; p.P679T; 8:94146060-94146060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1053G>T; p.E351D; 8:94170410-94170410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1513G>A; p.D505N; 8:94160009-94160009	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1766C>A; p.T589N; 8:94151898-94151898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1539C>A; p.V513V; 8:94159983-94159983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.960T>G; p.L320L; 8:94170503-94170503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.649G>T; p.G217*; 8:94173931-94173931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2321G>A; p.R774Q; 8:94130703-94130703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.159C>A; p.A53A; 8:94177713-94177713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1040T>G; p.F347C; 8:94170423-94170423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.949G>A; p.G317R; 8:94170514-94170514	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2251C>T; p.R751W; 8:94130909-94130909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2064C>T; p.F688F; 8:94146031-94146031	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2064C>T; p.F688F; 8:94146031-94146031	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.425-9G>T; p.?; 8:94174269-94174269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2039T>A; p.L680H; 8:94146056-94146056	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1167C>T; p.P389P; 8:94165876-94165876	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - coding silent
c.1757G>T; p.G586V; 8:94151907-94151907	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1797C>T; p.S599S; 8:94148874-94148874	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1797C>T; p.S599S; 8:94148874-94148874	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.838C>A; p.P280T; 8:94170931-94170931	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.967C>T; p.P323S; 8:94170496-94170496	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.894G>T; p.L298F; 8:94170875-94170875	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1586T>C; p.I529T; 8:94152078-94152078	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.808C>A; p.Q270K; 8:94170961-94170961	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1291A>G; p.T431A; 8:94162154-94162154	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.106T>G; p.F36V; 8:94189231-94189231	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1932delG; p.S645fs*3; 8:94146163-94146163	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1751A>C; p.K584T; 8:94151913-94151913	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.918T>A; p.Y306*; 8:94170545-94170545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2202G>C; p.E734D; 8:94130958-94130958	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2103C>A; p.P701P; 8:94145992-94145992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1928G>T; p.G643V; 8:94146167-94146167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.477C>A; p.P159P; 8:94174208-94174208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2064C>T; p.F688F; 8:94146031-94146031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1127T>G; p.F376C; 8:94165916-94165916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482G>A; p.G161D; 8:94174203-94174203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2223C>T; p.V741V; 8:94130937-94130937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1036G>A; p.V346I; 8:94170427-94170427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1888G>A; p.G630R; 8:94148783-94148783	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.477C>T; p.P159P; 8:94174208-94174208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1899T>A; p.Y633*; 8:94148772-94148772	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1662G>A; p.T554T; 8:94152002-94152002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.369A>G; p.R123R; 8:94176596-94176596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.369A>G; p.R123R; 8:94176596-94176596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.597G>A; p.L199L; 8:94173983-94173983	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2320C>T; p.R774W; 8:94130704-94130704	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.827A>C; p.K276T; 8:94170942-94170942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.578G>A; p.R193Q; 8:94174107-94174107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2234G>A; p.R745H; 8:94130926-94130926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2284+1G>A; p.?; 8:94130875-94130875	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1679T>C; p.V560A; 8:94151985-94151985	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.925delT; p.Y309fs*20; 8:94170538-94170538	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1906C>A; p.Q636K; 8:94148765-94148765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.799C>G; p.P267A; 8:94170970-94170970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.150G>T; p.Q50H; 8:94189187-94189187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.742G>A; p.V248M; 8:94173838-94173838	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>T; p.D332Y; 8:94170469-94170469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.531C>T; p.V177V; 8:94174154-94174154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1452T>C; p.S484S; 8:94160070-94160070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1452T>C; p.S484S; 8:94160070-94160070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1450A>G; p.S484G; 8:94160072-94160072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1450A>G; p.S484G; 8:94160072-94160072	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1931G>A; p.G644E; 8:94146164-94146164	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1931G>A; p.G644E; 8:94146164-94146164	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1931G>A; p.G644E; 8:94146164-94146164	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.913G>A; p.A305T; 8:94170856-94170856	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.899G>A; p.R300Q; 8:94170870-94170870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2183_2184insT; p.S729fs*8; 8:94130976-94130977	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1887C>T; p.A629A; 8:94148784-94148784	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1862G>T; p.S621I; 8:94148809-94148809	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.75_76insG; p.K26fs*3; 8:94189261-94189262	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.366_367insG; p.R123fs*33; 8:94176598-94176599	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1398G>A; p.G466G; 8:94160124-94160124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.249C>A; p.A83A; 8:94177623-94177623	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.249C>A; p.A83A; 8:94177623-94177623	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.249C>A; p.A83A; 8:94177623-94177623	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2103C>A; p.P701P; 8:94145992-94145992	liver	carcinoma	Substitution - coding silent
c.1242T>C; p.D414D; 8:94165801-94165801	liver	carcinoma	Substitution - coding silent
c.2205delT; p.F735fs*9; 8:94130955-94130955	liver	carcinoma	Deletion - Frameshift
c.1843G>C; p.V615L; 8:94148828-94148828	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2114T>A; p.F705Y; 8:94145981-94145981	liver	carcinoma	Substitution - Missense
c.2114T>A; p.F705Y; 8:94145981-94145981	liver	carcinoma	Substitution - Missense
c.864G>C; p.Q288H; 8:94170905-94170905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.178T>G; p.F60V; 8:94177694-94177694	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.163C>G; p.P55A; 8:94177709-94177709	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1122C>A; p.N374K; 8:94165921-94165921	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.467C>A; p.P156Q; 8:94174218-94174218	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2223C>A; p.V741V; 8:94130937-94130937	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2337G>C; p.Q779H; 8:94130687-94130687	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.271A>T; p.T91S; 8:94177601-94177601	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.467C>T; p.P156L; 8:94174218-94174218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2103C>T; p.P701P; 8:94145992-94145992	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.444C>T; p.V148V; 8:94174241-94174241	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1263G>A; p.T421T; 8:94165780-94165780	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1553C>A; p.P518H; 8:94152111-94152111	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2180G>T; p.R727L; 8:94130980-94130980	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2070T>C; p.A690A; 8:94146025-94146025	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.416C>A; p.S139Y; 8:94176549-94176549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.874A>G; p.I292V; 8:94170895-94170895	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2098G>C; p.G700R; 8:94145997-94145997	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.92T>A; p.L31Q; 8:94189245-94189245	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.856A>G; p.I286V; 8:94170913-94170913	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.G317R; 8:94170514-94170514	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1662G>T; p.T554T; 8:94152002-94152002	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.122G>T; p.G41V; 8:94189215-94189215	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.172G>C; p.V58L; 8:94177700-94177700	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1095T>A; p.H365Q; 8:94165948-94165948	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.302C>T; p.A101V; 8:94176663-94176663	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>C; p.D520H; 8:94152106-94152106	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>C; p.D520H; 8:94152106-94152106	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1464G>T; p.L488L; 8:94160058-94160058	NS	NS	Substitution - coding silent
c.722C>A; p.A241E; 8:94173858-94173858	oesophagus	carcinoma	Substitution - Missense
c.2320C>T; p.R774W; 8:94130704-94130704	oesophagus	carcinoma	Substitution - Missense
c.2177C>G; p.A726G; 8:94130983-94130983	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.R193*; 8:94174108-94174108	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1348G>A; p.E450K; 8:94162097-94162097	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.475C>A; p.P159T; 8:94174210-94174210	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.367C>T; p.R123*; 8:94176598-94176598	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1456A>G; p.K486E; 8:94160066-94160066	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2101C>A; p.P701T; 8:94145994-94145994	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1530C>T; p.T510T; 8:94159992-94159992	ovary	other; neoplasm	Substitution - coding silent
c.39T>A; p.L13L; 8:94194647-94194647	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.587C>T; p.S196F; 8:94173993-94173993	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1451G>T; p.S484I; 8:94160071-94160071	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2432A>G; p.K811R; 8:94128307-94128307	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2432A>G; p.K811R; 8:94128307-94128307	pancreas	carcinoma	Substitution - Missense
c.1359+1G>T; p.?; 8:94162085-94162085	pancreas	carcinoma	Unknown
c.1022C>T; p.P341L; 8:94170441-94170441	prostate	adenoma	Substitution - Missense
c.2116T>C; p.S706P; 8:94145979-94145979	prostate	carcinoma	Substitution - Missense
c.2426G>A; p.R809H; 8:94128313-94128313	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.868G>T; p.G290*; 8:94170901-94170901	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1918delA; p.T640fs*3; 8:94148753-94148753	prostate	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2142C>T; p.N714N; 8:94145953-94145953	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1713C>T; p.F571F; 8:94151951-94151951	skin	malignant_melanoma	Substitution - coding silent
c.148C>T; p.Q50*; 8:94189189-94189189	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1355C>T; p.S452L; 8:94162090-94162090	skin	malignant_melanoma	Substitution - Missense
c.118G>A; p.E40K; 8:94189219-94189219	skin	malignant_melanoma	Substitution - Missense
c.929C>T; p.A310V; 8:94170534-94170534	skin	malignant_melanoma	Substitution - Missense
c.1519C>T; p.H507Y; 8:94160003-94160003	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1165C>T; p.P389S; 8:94165878-94165878	skin	malignant_melanoma	Substitution - Missense
c.368G>A; p.R123Q; 8:94176597-94176597	skin	malignant_melanoma	Substitution - Missense
c.1551G>A; p.K517K; 8:94159971-94159971	skin	malignant_melanoma	Substitution - coding silent
c.967C>T; p.P323S; 8:94170496-94170496	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2035C>T; p.P679S; 8:94146060-94146060	skin	malignant_melanoma	Substitution - Missense
c.2035C>T; p.P679S; 8:94146060-94146060	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1502_1503GG>AA; p.G501E; 8:94160019-94160020	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.143T>A; p.I48K; 8:94189194-94189194	skin	malignant_melanoma	Substitution - Missense
c.2096G>A; p.R699Q; 8:94145999-94145999	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2223C>T; p.V741V; 8:94130937-94130937	skin	malignant_melanoma	Substitution - coding silent
c.429G>A; p.K143K; 8:94174256-94174256	skin	malignant_melanoma	Substitution - coding silent
c.999T>A; p.I333I; 8:94170464-94170464	skin	malignant_melanoma	Substitution - coding silent
c.1468C>T; p.H490Y; 8:94160054-94160054	skin	malignant_melanoma	Substitution - Missense
c.1170G>T; p.M390I; 8:94165873-94165873	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.642G>A; p.K214K; 8:94173938-94173938	skin	malignant_melanoma	Substitution - coding silent
c.163C>T; p.P55S; 8:94177709-94177709	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2047C>T; p.P683S; 8:94146048-94146048	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.869G>A; p.G290E; 8:94170900-94170900	skin	malignant_melanoma	Substitution - Missense
c.1263G>A; p.T421T; 8:94165780-94165780	skin	malignant_melanoma	Substitution - coding silent
c.869G>A; p.G290E; 8:94170900-94170900	skin	malignant_melanoma	Substitution - Missense
c.580G>A; p.E194K; 8:94174105-94174105	skin	malignant_melanoma	Substitution - Missense
c.222G>A; p.R74R; 8:94177650-94177650	skin	malignant_melanoma	Substitution - coding silent
c.1593C>T; p.F531F; 8:94152071-94152071	skin; leg	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.831G>A; p.E277E; 8:94170938-94170938	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1503G>A; p.G501G; 8:94160019-94160019	skin	malignant_melanoma	Substitution - coding silent
c.1695A>C; p.Q565H; 8:94151969-94151969	skin	malignant_melanoma	Substitution - Missense
c.2320C>T; p.R774W; 8:94130704-94130704	skin	malignant_melanoma	Substitution - Missense
c.613C>T; p.P205S; 8:94173967-94173967	skin	malignant_melanoma	Substitution - Missense
c.613C>T; p.P205S; 8:94173967-94173967	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.578G>A; p.R193Q; 8:94174107-94174107	skin	malignant_melanoma	Substitution - Missense
c.1021C>G; p.P341A; 8:94170442-94170442	skin	malignant_melanoma	Substitution - Missense
c.93G>A; p.L31L; 8:94189244-94189244	skin	malignant_melanoma	Substitution - coding silent
c.1189C>T; p.Q397*; 8:94165854-94165854	skin	malignant_melanoma	Substitution - Nonsense
c.2095C>T; p.R699W; 8:94146000-94146000	skin	malignant_melanoma	Substitution - Missense
c.1282+2T>C; p.?; 8:94165759-94165759	skin	malignant_melanoma	Unknown
c.1606C>T; p.P536S; 8:94152058-94152058	skin	malignant_melanoma	Substitution - Missense
c.259G>A; p.E87K; 8:94177613-94177613	skin; mucosal	malignant_melanoma	Substitution - Missense
c.466C>T; p.P156S; 8:94174219-94174219	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1183_1184CT>TA; p.L395*; 8:94165859-94165860	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.979C>T; p.H327Y; 8:94170484-94170484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1810G>A; p.G604R; 8:94148861-94148861	skin; acral	malignant_melanoma	Substitution - Missense
c.2007G>A; p.K669K; 8:94146088-94146088	skin	malignant_melanoma	Substitution - coding silent
c.514C>T; p.P172S; 8:94174171-94174171	skin	malignant_melanoma	Substitution - Missense
c.308G>A; p.G103E; 8:94176657-94176657	skin	malignant_melanoma	Substitution - Missense
c.696C>T; p.I232I; 8:94173884-94173884	skin	malignant_melanoma	Substitution - coding silent
c.308G>A; p.G103E; 8:94176657-94176657	skin	malignant_melanoma	Substitution - Missense
c.2488C>G; p.L830V; 8:94128251-94128251	skin; neck	malignant_melanoma	Substitution - Missense
c.949G>A; p.G317R; 8:94170514-94170514	skin	malignant_melanoma	Substitution - Missense
c.471C>T; p.A157A; 8:94174214-94174214	skin	malignant_melanoma	Substitution - coding silent
c.2117C>T; p.S706F; 8:94145978-94145978	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2117C>T; p.S706F; 8:94145978-94145978	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2117C>T; p.S706F; 8:94145978-94145978	skin	malignant_melanoma	Substitution - Missense
c.2117C>T; p.S706F; 8:94145978-94145978	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.75G>A; p.G25G; 8:94189262-94189262	skin	malignant_melanoma	Substitution - coding silent
c.1487G>A; p.S496N; 8:94160035-94160035	skin	malignant_melanoma	Substitution - Missense
c.630G>A; p.V210V; 8:94173950-94173950	skin	malignant_melanoma	Substitution - coding silent
c.2017G>A; p.G673S; 8:94146078-94146078	skin	malignant_melanoma	Substitution - Missense
c.2209G>A; p.E737K; 8:94130951-94130951	skin	malignant_melanoma	Substitution - Missense
c.846C>T; p.F282F; 8:94170923-94170923	skin	malignant_melanoma	Substitution - coding silent
c.340A>T; p.I114L; 8:94176625-94176625	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43C>A; p.L15I; 8:94194643-94194643	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1143T>C; p.I381I; 8:94165900-94165900	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.151-6C>A; p.?; 8:94177727-94177727	stomach	carcinoma; adenocarcinoma	Unknown
c.393C>T; p.Y131Y; 8:94176572-94176572	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1686A>C; p.E562D; 8:94151978-94151978	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1888G>A; p.G630R; 8:94148783-94148783	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.495C>G; p.Y165*; 8:94174190-94174190	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1662G>A; p.T554T; 8:94152002-94152002	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.553A>T; p.K185*; 8:94174132-94174132	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.395A>G; p.E132G; 8:94176570-94176570	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2227T>C; p.L743L; 8:94130933-94130933	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2334C>A; p.H778Q; 8:94130690-94130690	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.531C>T; p.V177V; 8:94174154-94174154	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1783G>T; p.G595C; 8:94151881-94151881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.249C>A; p.A83A; 8:94177623-94177623	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1514A>T; p.D505V; 8:94160008-94160008	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1315G>A; p.V439I; 8:94162130-94162130	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.389A>G; p.K130R; 8:94176576-94176576	thyroid	other; neoplasm	Substitution - Missense
c.2064C>T; p.F688F; 8:94146031-94146031	thyroid	other; neoplasm	Substitution - coding silent
c.393C>G; p.Y131*; 8:94176572-94176572	thyroid	other; neoplasm	Substitution - Nonsense
c.391T>C; p.Y131H; 8:94176574-94176574	thyroid	other; neoplasm	Substitution - Missense
c.1974G>T; p.M658I; 8:94146121-94146121	thyroid	other; neoplasm	Substitution - Missense
c.516C>T; p.P172P; 8:94174169-94174169	urinary_tract; bladder	carcinoma	Substitution - coding silent

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COSMIC confirmed somatic mutation [Top]

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