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