lung cancer gene and literature database Home

Annotation category 5

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

Gene information

Gene ID	140690
Symbol	CTCFL
Synonymous	BORIS\|CT27\|CTCF-T\|HMGB1L1\|dJ579F20.2
Full name	CCCTC-binding factor (zinc finger protein)-like
Gene description	BORIS-like protein\|CTCF paralog\|CTCF-like protein\|HMG-1L1\|brother of the regulator of imprinted sites\|cancer/testis antigen 27\|putative high mobility group protein 1-like 1\|putative high mobility group protein B1-like 1\|transcriptional repressor CTCFL\|zin
Cytoband	20q13.31
Gene type	protein-coding
Synonymous	MIM:607022; HGNC:HGNC:16234; Ensembl:ENSG00000124092; HPRD:09512; Vega:OTTHUMG00000032829

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1570C>T; p.R524*; 20:57508710-57508710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.121C>A; p.H41N; 20:57524085-57524085	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1800G>A; p.K600K; 20:57503476-57503476	skin	malignant_melanoma	Substitution - coding silent
c.1472G>A; p.C491Y; 20:57512611-57512611	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1054G>T; p.V352L; 20:57518763-57518763	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1069T>C; p.L357L; 20:57515825-57515825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.942G>A; p.K314K; 20:57518875-57518875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.671T>A; p.V224E; 20:57523151-57523151	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.97G>T; p.D33Y; 20:57524109-57524109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.822T>C; p.R274R; 20:57519310-57519310	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.822T>C; p.R274R; 20:57519310-57519310	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.764G>A; p.G255E; 20:57519368-57519368	skin	malignant_melanoma	Substitution - Missense
c.1316G>A; p.R439Q; 20:57514606-57514606	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.706G>A; p.A236T; 20:57523116-57523116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.135T>G; p.S45R; 20:57524071-57524071	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.D317N; 20:57518868-57518868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.949G>A; p.D317N; 20:57518868-57518868	skin; back	malignant_melanoma	Substitution - Missense
c.949G>A; p.D317N; 20:57518868-57518868	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.640G>A; p.E214K; 20:57523182-57523182	skin	malignant_melanoma	Substitution - Missense
c.1344C>G; p.R448R; 20:57512739-57512739	breast	carcinoma	Substitution - coding silent
c.1084C>A; p.R362R; 20:57515810-57515810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.219G>T; p.E73D; 20:57523987-57523987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.322G>A; p.V108M; 20:57523884-57523884	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1835G>A; p.G612E; 20:57503441-57503441	skin	malignant_melanoma	Substitution - Missense
c.1097G>A; p.G366E; 20:57515797-57515797	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.916A>G; p.T306A; 20:57519216-57519216	NS	NS	Substitution - Missense
c.988C>T; p.R330*; 20:57518829-57518829	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.335T>A; p.V112E; 20:57523871-57523871	breast	carcinoma	Substitution - Missense
c.1304C>T; p.T435I; 20:57514618-57514618	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1516C>T; p.R506C; 20:57508764-57508764	skin	malignant_melanoma	Substitution - Missense
c.1871A>T; p.K624M; 20:57498671-57498671	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1267G>A; p.E423K; 20:57514655-57514655	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1267G>A; p.E423K; 20:57514655-57514655	skin	malignant_melanoma	Substitution - Missense
c.1267G>A; p.E423K; 20:57514655-57514655	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1267G>A; p.E423K; 20:57514655-57514655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1143T>G; p.D381E; 20:57515751-57515751	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.145G>T; p.A49S; 20:57524061-57524061	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1533G>C; p.E511D; 20:57508747-57508747	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1339A>G; p.M447V; 20:57512744-57512744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1071G>C; p.L357F; 20:57515823-57515823	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1343G>A; p.R448H; 20:57512740-57512740	ovary	other; neoplasm	Substitution - Missense
c.1313C>T; p.A438V; 20:57514609-57514609	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.69G>A; p.P23P; 20:57524137-57524137	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.873G>A; p.L291L; 20:57519259-57519259	skin	malignant_melanoma	Substitution - coding silent
c.1936G>C; p.E646Q; 20:57498606-57498606	breast	carcinoma	Substitution - Missense
c.1936G>C; p.E646Q; 20:57498606-57498606	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.564G>A; p.K188K; 20:57523258-57523258	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.998G>A; p.R333H; 20:57518819-57518819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.738_739insA; p.Q247fs*14; 20:57523083-57523084	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.300G>A; p.L100L; 20:57523906-57523906	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.216G>C; p.S72S; 20:57523990-57523990	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1723T>C; p.S575P; 20:57503553-57503553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1237A>G; p.M413V; 20:57514685-57514685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.646G>C; p.V216L; 20:57523176-57523176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1573C>G; p.Q525E; 20:57508707-57508707	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.75delA; p.G26fs*2; 20:57524131-57524131	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.75delA; p.G26fs*2; 20:57524131-57524131	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.75delA; p.G26fs*2; 20:57524131-57524131	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.96delA; p.D33fs*48; 20:57524110-57524110	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.173A>G; p.D58G; 20:57524033-57524033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.173A>G; p.D58G; 20:57524033-57524033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1805C>T; p.A602V; 20:57503471-57503471	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1612G>A; p.D538N; 20:57508668-57508668	skin	malignant_melanoma	Substitution - Missense
c.1113G>C; p.Q371H; 20:57515781-57515781	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.173A>G; p.D58G; 20:57524033-57524033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1144A>C; p.T382P; 20:57515750-57515750	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.320_332del13; p.V108fs*45; 20:57523874-57523886	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.403G>A; p.A135T; 20:57523803-57523803	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>A; p.L658I; 20:57498570-57498570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.251C>T; p.T84M; 20:57523955-57523955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.227A>T; p.E76V; 20:57523979-57523979	breast	carcinoma	Substitution - Missense
c.139T>C; p.L47L; 20:57524067-57524067	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.212C>T; p.P71L; 20:57523994-57523994	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.174C>A; p.D58E; 20:57524032-57524032	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.169C>T; p.Q57*; 20:57524037-57524037	large_intestine; colon	carcinoma	Substitution - Nonsense
c.169C>T; p.Q57*; 20:57524037-57524037	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.152G>A; p.R51H; 20:57524054-57524054	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.415C>A; p.Q139K; 20:57523791-57523791	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1840G>A; p.E614K; 20:57503436-57503436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1840G>A; p.E614K; 20:57503436-57503436	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1247A>G; p.H416R; 20:57514675-57514675	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1124G>A; p.C375Y; 20:57515770-57515770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1034C>T; p.S345F; 20:57518783-57518783	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1628C>T; p.P543L; 20:57508652-57508652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1359C>A; p.Y453*; 20:57512724-57512724	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.725A>C; p.K242T; 20:57523097-57523097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.93A>T; p.E31D; 20:57524113-57524113	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1173G>A; p.T391T; 20:57515721-57515721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.820C>T; p.R274C; 20:57519312-57519312	skin	malignant_melanoma	Substitution - Missense
c.820C>T; p.R274C; 20:57519312-57519312	skin	malignant_melanoma	Substitution - Missense
c.1173G>A; p.T391T; 20:57515721-57515721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.767C>T; p.T256I; 20:57519365-57519365	skin	malignant_melanoma	Substitution - Missense
c.692C>T; p.P231L; 20:57523130-57523130	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1676T>A; p.I559N; 20:57503600-57503600	skin	malignant_melanoma	Substitution - Missense
c.1529G>C; p.G510A; 20:57508751-57508751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.148G>A; p.E50K; 20:57524058-57524058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1959C>A; p.T653T; 20:57498583-57498583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1953C>T; p.G651G; 20:57498589-57498589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1542C>T; p.F514F; 20:57508738-57508738	skin	malignant_melanoma	Substitution - coding silent
c.1840G>T; p.E614*; 20:57503436-57503436	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1141G>C; p.D381H; 20:57515753-57515753	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1758G>A; p.K586K; 20:57503518-57503518	skin	malignant_melanoma	Substitution - coding silent
c.529A>G; p.T177A; 20:57523677-57523677	thyroid	other; neoplasm	Substitution - Missense
c.40A>G; p.T14A; 20:57524166-57524166	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.901C>T; p.R301W; 20:57519231-57519231	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.901C>T; p.R301W; 20:57519231-57519231	breast	carcinoma	Substitution - Missense
c.1408C>T; p.R470C; 20:57512675-57512675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.140T>G; p.L47W; 20:57524066-57524066	skin	malignant_melanoma	Substitution - Missense
c.168C>T; p.F56F; 20:57524038-57524038	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1408C>T; p.R470C; 20:57512675-57512675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.754+1G>A; p.?; 20:57523067-57523067	stomach	carcinoma; adenocarcinoma	Unknown
c.762A>C; p.K254N; 20:57519370-57519370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1772T>C; p.I591T; 20:57503504-57503504	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.379C>T; p.R127W; 20:57523827-57523827	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1409G>C; p.R470P; 20:57512674-57512674	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.525A>T; p.E175D; 20:57523681-57523681	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1694C>T; p.S565L; 20:57503582-57503582	skin	malignant_melanoma	Substitution - Missense
c.1792G>A; p.G598S; 20:57503484-57503484	skin	malignant_melanoma	Substitution - Missense
c.1822G>A; p.E608K; 20:57503454-57503454	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.397T>C; p.C133R; 20:57523809-57523809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1822G>A; p.E608K; 20:57503454-57503454	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.81G>A; p.L27L; 20:57524125-57524125	breast	carcinoma	Substitution - coding silent
c.1075C>T; p.R359C; 20:57515819-57515819	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1323C>T; p.S441S; 20:57514599-57514599	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1015G>A; p.E339K; 20:57518802-57518802	skin	malignant_melanoma	Substitution - Missense
c.569A>C; p.Q190P; 20:57523253-57523253	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1216C>T; p.R406C; 20:57514706-57514706	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>A; p.A233T; 20:57523125-57523125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1479T>A; p.Y493*; 20:57512604-57512604	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.763G>T; p.G255*; 20:57519369-57519369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1216C>T; p.R406C; 20:57514706-57514706	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.310C>T; p.Q104*; 20:57523896-57523896	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1230C>T; p.S410S; 20:57514692-57514692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1230C>T; p.S410S; 20:57514692-57514692	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1833C>T; p.N611N; 20:57503443-57503443	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1230C>T; p.S410S; 20:57514692-57514692	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.266C>T; p.S89F; 20:57523940-57523940	skin	malignant_melanoma	Substitution - Missense
c.728C>G; p.S243C; 20:57523094-57523094	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.52G>T; p.E18*; 20:57524154-57524154	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1263C>T; p.H421H; 20:57514659-57514659	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.320G>T; p.G107V; 20:57523886-57523886	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.888G>A; p.T296T; 20:57519244-57519244	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.990A>T; p.R330R; 20:57518827-57518827	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1329A>G; p.L443L; 20:57514593-57514593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1227G>C; p.Q409H; 20:57514695-57514695	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.642A>C; p.E214D; 20:57523180-57523180	liver	carcinoma	Substitution - Missense
c.1706G>A; p.G569E; 20:57503570-57503570	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>T; p.L119F; 20:57523849-57523849	breast	carcinoma	Substitution - Missense
c.1076G>A; p.R359H; 20:57515818-57515818	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1143T>C; p.D381D; 20:57515751-57515751	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.148G>C; p.E50Q; 20:57524058-57524058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>C; p.E50Q; 20:57524058-57524058	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.83A>G; p.K28R; 20:57524123-57524123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.178G>A; p.V60I; 20:57524028-57524028	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.178G>A; p.V60I; 20:57524028-57524028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.690delA; p.Q230fs*47; 20:57523132-57523132	bone; ilium	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.67C>T; p.P23S; 20:57524139-57524139	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.225C>T; p.S75S; 20:57523981-57523981	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.67C>T; p.P23S; 20:57524139-57524139	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.789G>A; p.M263I; 20:57519343-57519343	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1495C>T; p.R499C; 20:57508785-57508785	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1405G>A; p.E469K; 20:57512678-57512678	skin	malignant_melanoma	Substitution - Missense
c.1830G>A; p.A610A; 20:57503446-57503446	skin	malignant_melanoma	Substitution - coding silent
c.592G>A; p.E198K; 20:57523230-57523230	skin; extremity	malignant_melanoma	Substitution - Missense
c.755G>A; p.G252E; 20:57519377-57519377	skin	malignant_melanoma	Substitution - Missense
c.384G>A; p.Q128Q; 20:57523822-57523822	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1828G>A; p.A610T; 20:57503448-57503448	central_nervous_system; brain	glioma	Substitution - Missense
c.391C>A; p.Q131K; 20:57523815-57523815	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.31G>T; p.E11*; 20:57524175-57524175	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.319G>A; p.G107R; 20:57523887-57523887	breast	carcinoma	Substitution - Missense
c.1517G>A; p.R506H; 20:57508763-57508763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.984C>A; p.L328L; 20:57518833-57518833	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.112G>C; p.E38Q; 20:57524094-57524094	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.690A>G; p.Q230Q; 20:57523132-57523132	skin	malignant_melanoma	Substitution - coding silent
c.1317G>C; p.R439R; 20:57514605-57514605	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1180G>T; p.G394C; 20:57515714-57515714	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1084C>T; p.R362*; 20:57515810-57515810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1084C>T; p.R362*; 20:57515810-57515810	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1627C>T; p.P543S; 20:57508653-57508653	skin	malignant_melanoma	Substitution - Missense
c.1618A>G; p.N540D; 20:57508662-57508662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.R362*; 20:57515810-57515810	skin	malignant_melanoma	Substitution - Nonsense
c.600C>A; p.L200L; 20:57523222-57523222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1103G>A; p.R368H; 20:57515791-57515791	liver	carcinoma	Substitution - Missense
c.1103G>A; p.R368H; 20:57515791-57515791	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.855C>T; p.H285H; 20:57519277-57519277	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.344_345delCT; p.P115fs*8; 20:57523861-57523862	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.215C>T; p.S72L; 20:57523991-57523991	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation