Entrez Gene

Basic Information
Gene ID	160728
Name	SLC5A8
Synonymous	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8;SLC5A8;solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
Definition	apical iodide transporter\|electrogenic sodium monocarboxylate cotransporter\|sodium iodide-related cotransporter\|sodium-coupled monocarboxylate transporter 1\|solute carrier family 5 (iodide transporter), member 8\|solute carrier family 5 member 8
Position	12q23.1
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 0.05.

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.173C>T; p.A58V; 12:101209676-101209676	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1304C>T; p.P435L; 12:101168112-101168112	skin	malignant_melanoma	Substitution - Missense
c.348C>T; p.Y116Y; 12:101209501-101209501	pancreas	carcinoma	Substitution - coding silent
c.840C>G; p.L280L; 12:101187509-101187509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.314C>A; p.P105Q; 12:101209535-101209535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.A165T; 12:101195139-101195139	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1525A>C; p.R509R; 12:101166495-101166495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1449C>A; p.T483T; 12:101166571-101166571	pancreas	carcinoma	Substitution - coding silent
c.1449C>A; p.T483T; 12:101166571-101166571	pancreas	carcinoma	Substitution - coding silent
c.919G>T; p.D307Y; 12:101187430-101187430	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.902T>A; p.L301Q; 12:101187447-101187447	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1360C>A; p.L454I; 12:101166660-101166660	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>A; p.A429T; 12:101168131-101168131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>C; p.D333H; 12:101184189-101184189	breast	carcinoma	Substitution - Missense
c.229G>A; p.E77K; 12:101209620-101209620	skin	malignant_melanoma	Substitution - Missense
c.1012C>T; p.P338S; 12:101184174-101184174	skin	malignant_melanoma	Substitution - Missense
c.1220G>A; p.G407E; 12:101180042-101180042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.752T>C; p.F251S; 12:101190549-101190549	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1321-1G>T; p.?; 12:101166700-101166700	lung	carcinoma; adenocarcinoma	Unknown
c.1050A>G; p.L350L; 12:101184136-101184136	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1627A>T; p.T543S; 12:101161977-101161977	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1416A>T; p.P472P; 12:101166604-101166604	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1416A>T; p.P472P; 12:101166604-101166604	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1559C>T; p.S520L; 12:101162045-101162045	skin	malignant_melanoma	Substitution - Missense
c.925G>A; p.D309N; 12:101187424-101187424	skin	malignant_melanoma	Substitution - Missense
c.925G>A; p.D309N; 12:101187424-101187424	skin	malignant_melanoma	Substitution - Missense
c.1681T>G; p.F561V; 12:101158278-101158278	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1527-10G>C; p.?; 12:101162087-101162087	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.897C>T; p.L299L; 12:101187452-101187452	skin	malignant_melanoma	Substitution - coding silent
c.897C>T; p.L299L; 12:101187452-101187452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.897C>T; p.L299L; 12:101187452-101187452	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1085C>T; p.A362V; 12:101182883-101182883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.781C>T; p.Q261*; 12:101190520-101190520	NS	malignant_melanoma	Substitution - Nonsense
c.781C>T; p.Q261*; 12:101190520-101190520	NS	malignant_melanoma	Substitution - Nonsense
c.1399C>T; p.P467S; 12:101166621-101166621	skin	malignant_melanoma	Substitution - Missense
c.1399C>T; p.P467S; 12:101166621-101166621	skin	malignant_melanoma	Substitution - Missense
c.225C>A; p.P75P; 12:101209624-101209624	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.94T>G; p.Y32D; 12:101209755-101209755	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1166-3T>C; p.?; 12:101180099-101180099	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1493C>G; p.T498S; 12:101166527-101166527	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.615A>G; p.I205M; 12:101193702-101193702	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.388T>C; p.C130R; 12:101204529-101204529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1675G>T; p.E559*; 12:101158284-101158284	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1675G>T; p.E559*; 12:101158284-101158284	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1708A>G; p.K570E; 12:101158251-101158251	stomach	adenocarcinoma	Substitution - Missense
c.506C>T; p.T169M; 12:101195126-101195126	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1057G>A; p.V353M; 12:101182911-101182911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.506C>T; p.T169M; 12:101195126-101195126	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1098A>C; p.E366D; 12:101182870-101182870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1819G>A; p.G607R; 12:101157293-101157293	skin	malignant_melanoma	Substitution - Missense
c.695T>G; p.F232C; 12:101190606-101190606	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.299C>T; p.A100V; 12:101209550-101209550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1186T>A; p.C396S; 12:101180076-101180076	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1539G>C; p.M513I; 12:101162065-101162065	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1422C>A; p.H474Q; 12:101166598-101166598	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.908C>A; p.S303Y; 12:101187441-101187441	skin	malignant_melanoma	Substitution - Missense
c.1160G>A; p.G387E; 12:101182808-101182808	skin	malignant_melanoma	Substitution - Missense
c.1160G>A; p.G387E; 12:101182808-101182808	skin; mucosal	malignant_melanoma	Substitution - Missense
c.898G>A; p.A300T; 12:101187451-101187451	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.138G>A; p.L46L; 12:101209711-101209711	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1067G>A; p.S356N; 12:101182901-101182901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.661G>A; p.A221T; 12:101193656-101193656	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.768C>T; p.I256I; 12:101190533-101190533	skin	malignant_melanoma	Substitution - coding silent
c.530G>T; p.C177F; 12:101195102-101195102	liver	carcinoma	Substitution - Missense
c.465T>A; p.N155K; 12:101202168-101202168	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1203G>A; p.A401A; 12:101180059-101180059	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1203G>A; p.A401A; 12:101180059-101180059	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.967A>T; p.M323L; 12:101184219-101184219	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>A; p.A313T; 12:101187412-101187412	skin	malignant_melanoma	Substitution - Missense
c.49G>A; p.V17M; 12:101209800-101209800	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.60C>T; p.G20G; 12:101209789-101209789	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1358C>T; p.S453F; 12:101166662-101166662	skin	malignant_melanoma	Substitution - Missense
c.60C>T; p.G20G; 12:101209789-101209789	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1534C>T; p.L512L; 12:101162070-101162070	breast	carcinoma	Substitution - coding silent
c.1480G>T; p.E494*; 12:101166540-101166540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1747G>A; p.E583K; 12:101157365-101157365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.260T>G; p.I87S; 12:101209589-101209589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1124C>T; p.S375L; 12:101182844-101182844	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.250A>G; p.I84V; 12:101209599-101209599	skin	malignant_melanoma	Substitution - Missense
c.1456G>C; p.E486Q; 12:101166564-101166564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1124C>T; p.S375L; 12:101182844-101182844	skin	malignant_melanoma	Substitution - Missense
c.550G>T; p.A184S; 12:101193767-101193767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1574G>A; p.S525N; 12:101162030-101162030	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.540T>G; p.G180G; 12:101193777-101193777	breast	carcinoma	Substitution - coding silent
c.822C>A; p.F274L; 12:101190479-101190479	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1545C>A; p.N515K; 12:101162059-101162059	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.700C>T; p.P234S; 12:101190601-101190601	skin	malignant_melanoma	Substitution - Missense
c.700C>T; p.P234S; 12:101190601-101190601	skin	malignant_melanoma	Substitution - Missense
c.1678G>A; p.D560N; 12:101158281-101158281	skin	malignant_melanoma	Substitution - Missense
c.399C>T; p.V133V; 12:101204518-101204518	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1006G>A; p.G336R; 12:101184180-101184180	skin	malignant_melanoma	Substitution - Missense
c.985G>T; p.D329Y; 12:101184201-101184201	central_nervous_system; brain	glioma	Substitution - Missense
c.1208C>T; p.A403V; 12:101180054-101180054	central_nervous_system; brain	glioma	Substitution - Missense
c.532A>T; p.T178S; 12:101195100-101195100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.675A>C; p.G225G; 12:101193642-101193642	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.675A>C; p.G225G; 12:101193642-101193642	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1160G>C; p.G387A; 12:101182808-101182808	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1507C>T; p.Q503*; 12:101166513-101166513	skin	malignant_melanoma	Substitution - Nonsense
c.1507C>T; p.Q503*; 12:101166513-101166513	skin	malignant_melanoma	Substitution - Nonsense
c.1567T>C; p.Y523H; 12:101162037-101162037	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1713G>A; p.K571K; 12:101157399-101157399	skin	malignant_melanoma	Substitution - coding silent
c.494C>T; p.A165V; 12:101195138-101195138	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.494C>T; p.A165V; 12:101195138-101195138	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1609A>C; p.I537L; 12:101161995-101161995	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1655C>A; p.P552H; 12:101158304-101158304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.535C>A; p.L179M; 12:101195097-101195097	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.862T>C; p.W288R; 12:101187487-101187487	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.13C>T; p.R5W; 12:101209836-101209836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.G449R; 12:101166675-101166675	skin	malignant_melanoma	Substitution - Missense
c.1648T>G; p.L550V; 12:101158311-101158311	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.895C>T; p.L299F; 12:101187454-101187454	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.574C>T; p.Q192*; 12:101193743-101193743	skin	malignant_melanoma	Substitution - Nonsense
c.573delT; p.Q192fs*12; 12:101193744-101193744	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1662C>T; p.Y554Y; 12:101158297-101158297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1201G>T; p.A401S; 12:101180061-101180061	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1254T>A; p.G418G; 12:101168162-101168162	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1789T>C; p.L597L; 12:101157323-101157323	NS	malignant_melanoma	Substitution - coding silent
c.1789T>C; p.L597L; 12:101157323-101157323	NS	malignant_melanoma	Substitution - coding silent
c.1789T>C; p.L597L; 12:101157323-101157323	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.285G>A; p.V95V; 12:101209564-101209564	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.285G>A; p.V95V; 12:101209564-101209564	ovary	other; neoplasm	Substitution - coding silent
c.870C>A; p.I290I; 12:101187479-101187479	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1218G>A; p.M406I; 12:101180044-101180044	skin	malignant_melanoma	Substitution - Missense
c.1532C>T; p.P511L; 12:101162072-101162072	skin	malignant_melanoma	Substitution - Missense
c.1318A>G; p.I440V; 12:101168098-101168098	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.966C>A; p.L322L; 12:101184220-101184220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1630G>A; p.G544R; 12:101161974-101161974	skin	malignant_melanoma	Substitution - Missense
c.1706A>G; p.K569R; 12:101158253-101158253	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.169G>A; p.V57M; 12:101209680-101209680	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1746G>A; p.V582V; 12:101157366-101157366	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1470G>T; p.M490I; 12:101166550-101166550	thyroid	other; neoplasm	Substitution - Missense
c.108G>T; p.G36G; 12:101209741-101209741	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.908C>T; p.S303F; 12:101187441-101187441	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.677G>T; p.R226I; 12:101193640-101193640	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1390C>T; p.P464S; 12:101166630-101166630	skin	malignant_melanoma	Substitution - Missense
c.1003C>A; p.P335T; 12:101184183-101184183	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.780C>A; p.N260K; 12:101190521-101190521	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.790G>C; p.V264L; 12:101190511-101190511	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1453A>G; p.N485D; 12:101166567-101166567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1375G>A; p.G459R; 12:101166645-101166645	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1375G>A; p.G459R; 12:101166645-101166645	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1375G>A; p.G459R; 12:101166645-101166645	urinary_tract; bladder	carcinoma	Substitution - Missense
c.606delC; p.V203fs*1; 12:101193711-101193711	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.690G>A; p.W230*; 12:101193627-101193627	skin	malignant_melanoma	Substitution - Nonsense
c.30C>T; p.F10F; 12:101209819-101209819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1607G>A; p.G536E; 12:101161997-101161997	skin	malignant_melanoma	Substitution - Missense
c.846C>T; p.I282I; 12:101187503-101187503	skin	malignant_melanoma	Substitution - coding silent
c.382C>T; p.R128C; 12:101204535-101204535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>A; p.V456I; 12:101166654-101166654	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.382C>T; p.R128C; 12:101204535-101204535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1108A>G; p.K370E; 12:101182860-101182860	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.185C>A; p.T62N; 12:101209664-101209664	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.786C>G; p.S262S; 12:101190515-101190515	ovary	other; neoplasm	Substitution - coding silent
c.513G>A; p.V171V; 12:101195119-101195119	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.879C>T; p.C293C; 12:101187470-101187470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1427A>G; p.D476G; 12:101166593-101166593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.418-1G>T; p.?; 12:101202216-101202216	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.111C>T; p.G37G; 12:101209738-101209738	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1445G>A; p.S482N; 12:101166575-101166575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1677G>A; p.E559E; 12:101158282-101158282	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.529T>C; p.C177R; 12:101195103-101195103	liver	carcinoma	Substitution - Missense
c.300G>A; p.A100A; 12:101209549-101209549	skin	malignant_melanoma	Substitution - coding silent
c.985G>A; p.D329N; 12:101184201-101184201	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.300G>A; p.A100A; 12:101209549-101209549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1798G>T; p.D600Y; 12:101157314-101157314	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.823C>G; p.Q275E; 12:101190478-101190478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.195C>T; p.F65F; 12:101209654-101209654	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.195C>T; p.F65F; 12:101209654-101209654	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.99C>A; p.A33A; 12:101209750-101209750	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.928C>T; p.P310S; 12:101187421-101187421	skin	malignant_melanoma	Substitution - Missense
c.312C>T; p.L104L; 12:101209537-101209537	skin	malignant_melanoma	Substitution - coding silent
c.364C>T; p.R122*; 12:101204553-101204553	skin	malignant_melanoma	Substitution - Nonsense
c.148C>T; p.R50C; 12:101209701-101209701	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.148C>T; p.R50C; 12:101209701-101209701	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1353C>A; p.A451A; 12:101166667-101166667	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1619G>A; p.S540N; 12:101161985-101161985	skin	malignant_melanoma	Substitution - Missense
c.909C>T; p.S303S; 12:101187440-101187440	skin	malignant_melanoma	Substitution - coding silent
c.943A>G; p.K315E; 12:101187406-101187406	liver	carcinoma	Substitution - Missense
c.638G>A; p.G213E; 12:101193679-101193679	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1644G>T; p.Q548H; 12:101158315-101158315	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1634G>A; p.G545E; 12:101158325-101158325	skin	malignant_melanoma	Substitution - Missense
c.558C>A; p.I186I; 12:101193759-101193759	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1370G>A; p.G457E; 12:101166650-101166650	skin	malignant_melanoma	Substitution - Missense
c.1126_1133delCTCTCAGA; p.L376fs*90; 12:101182835-101182842	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1736C>T; p.S579L; 12:101157376-101157376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.605C>T; p.S202F; 12:101193712-101193712	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.577G>A; p.V193I; 12:101193740-101193740	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.730A>G; p.T244A; 12:101190571-101190571	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1158A>G; p.Q386Q; 12:101182810-101182810	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.492C>T; p.G164G; 12:101195140-101195140	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.794A>G; p.Q265R; 12:101190507-101190507	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1830G>A; p.L610L; 12:101157282-101157282	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.54C>T; p.F18F; 12:101209795-101209795	skin	malignant_melanoma	Substitution - coding silent
c.228C>T; p.S76S; 12:101209621-101209621	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1246G>A; p.V416I; 12:101168170-101168170	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.228C>T; p.S76S; 12:101209621-101209621	skin	malignant_melanoma	Substitution - coding silent
c.1121G>T; p.R374I; 12:101182847-101182847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.538-1G>T; p.?; 12:101193780-101193780	liver	carcinoma	Unknown
c.538-1G>T; p.?; 12:101193780-101193780	liver	carcinoma	Unknown
c.538-1G>T; p.?; 12:101193780-101193780	liver	carcinoma	Unknown
c.507G>A; p.T169T; 12:101195125-101195125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.507G>A; p.T169T; 12:101195125-101195125	skin	malignant_melanoma	Substitution - coding silent
c.1608G>A; p.G536G; 12:101161996-101161996	skin	malignant_melanoma	Substitution - coding silent
c.1480G>A; p.E494K; 12:101166540-101166540	skin	malignant_melanoma	Substitution - Missense
c.1633G>A; p.G545R; 12:101158326-101158326	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1627A>C; p.T543P; 12:101161977-101161977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.964-1G>C; p.?; 12:101184223-101184223	lung	carcinoma; adenocarcinoma	Unknown
c.964-1G>C; p.?; 12:101184223-101184223	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1547_1548GG>TC; p.W516>?; 12:101162056-101162057	lung	carcinoma; adenocarcinoma	Complex
c.1631-5delT; p.?; 12:101158333-101158333	skin	malignant_melanoma	Unknown
c.1631-5delT; p.?; 12:101158333-101158333	skin	malignant_melanoma	Unknown
c.964-1G>C; p.?; 12:101184223-101184223	liver	carcinoma	Unknown

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]