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	2073
Symbol	ERCC5
Synonymous	COFS3\|ERCC5-201\|ERCM2\|UVDR\|XPG\|XPGC
Full name	excision repair cross-complementation group 5
Gene description	DNA excision repair protein ERCC-5\|DNA repair protein complementing XP-G cells\|XPG-complementing protein\|excision repair cross-complementing rodent repair deficiency, complementation group 5\|xeroderma pigmentosum, complementation group G
Cytoband	13q33
Gene type	protein-coding
Synonymous	MIM:133530; HGNC:HGNC:3437; Ensembl:ENSG00000134899; HPRD:00595; Vega:OTTHUMG00000017310

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1222G>A; p.D408N; 13:102862371-102862371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3428C>T; p.A1143V; 13:102875770-102875770	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2676C>A; p.F892L; 13:102868255-102868255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.864T>G; p.H288Q; 13:102861698-102861698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2186A>G; p.Q729R; 13:102865898-102865898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1241C>T; p.P414L; 13:102862390-102862390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.233G>T; p.G78V; 13:102852262-102852262	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1051G>T; p.A351S; 13:102862200-102862200	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2491T>C; p.F831L; 13:102866803-102866803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1120G>A; p.A374T; 13:102862269-102862269	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3537G>A; p.A1179A; 13:102875879-102875879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1586G>C; p.C529S; 13:102862735-102862735	skin	malignant_melanoma	Substitution - Missense
c.1586G>C; p.C529S; 13:102862735-102862735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1954+1G>C; p.?; 13:102863104-102863104	ovary	other; neoplasm	Unknown
c.344A>G; p.K115R; 13:102853836-102853836	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2980G>A; p.D994N; 13:102875322-102875322	pancreas	carcinoma	Substitution - Missense
c.1276G>A; p.E426K; 13:102862425-102862425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1477A>T; p.M493L; 13:102862626-102862626	liver	carcinoma	Substitution - Missense
c.1477A>T; p.M493L; 13:102862626-102862626	liver	carcinoma	Substitution - Missense
c.2841C>T; p.S947S; 13:102872360-102872360	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2125G>A; p.D709N; 13:102865837-102865837	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3249A>G; p.T1083T; 13:102875591-102875591	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.557T>C; p.I186T; 13:102858303-102858303	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1341G>A; p.A447A; 13:102862490-102862490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.557T>C; p.I186T; 13:102858303-102858303	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1475C>G; p.S492C; 13:102862624-102862624	breast	carcinoma	Substitution - Missense
c.1693G>T; p.D565Y; 13:102862842-102862842	thyroid	other; neoplasm	Substitution - Missense
c.1259G>A; p.R420H; 13:102862408-102862408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3035G>A; p.S1012N; 13:102875377-102875377	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1259G>A; p.R420H; 13:102862408-102862408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1369C>A; p.H457N; 13:102862518-102862518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1369C>A; p.H457N; 13:102862518-102862518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1369C>A; p.H457N; 13:102862518-102862518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1209G>A; p.V403V; 13:102862358-102862358	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1369C>A; p.H457N; 13:102862518-102862518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1369C>A; p.H457N; 13:102862518-102862518	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1258C>A; p.R420S; 13:102862407-102862407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2957C>T; p.A986V; 13:102873336-102873336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2824G>T; p.D942Y; 13:102872343-102872343	liver	carcinoma	Substitution - Missense
c.3495C>T; p.A1165A; 13:102875837-102875837	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2824G>T; p.D942Y; 13:102872343-102872343	liver	carcinoma	Substitution - Missense
c.102G>T; p.W34C; 13:102852131-102852131	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2441G>A; p.W814*; 13:102866753-102866753	liver	carcinoma	Substitution - Nonsense
c.2043C>T; p.G681G; 13:102865755-102865755	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2441G>A; p.W814*; 13:102866753-102866753	liver	carcinoma	Substitution - Nonsense
c.3387G>T; p.S1129S; 13:102875729-102875729	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1899C>T; p.S633S; 13:102863048-102863048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1195G>A; p.E399K; 13:102862344-102862344	breast	carcinoma	Substitution - Missense
c.3005A>G; p.Q1002R; 13:102875347-102875347	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2752T>A; p.L918I; 13:102872271-102872271	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2357C>G; p.A786G; 13:102866669-102866669	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2777G>T; p.G926V; 13:102872296-102872296	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1322C>T; p.P441L; 13:102862471-102862471	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1322C>T; p.P441L; 13:102862471-102862471	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2600C>T; p.P867L; 13:102868179-102868179	skin	malignant_melanoma	Substitution - Missense
c.507G>A; p.M169I; 13:102856091-102856091	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.628G>T; p.E210*; 13:102858374-102858374	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.666G>A; p.M222I; 13:102858412-102858412	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3164C>T; p.T1055I; 13:102875506-102875506	skin	malignant_melanoma	Substitution - Missense
c.2612G>T; p.C871F; 13:102868191-102868191	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1551G>A; p.P517P; 13:102862700-102862700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1642G>A; p.E548K; 13:102862791-102862791	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.185T>C; p.L62P; 13:102852214-102852214	skin	malignant_melanoma	Substitution - Missense
c.1432C>T; p.L478F; 13:102862581-102862581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2330G>A; p.R777H; 13:102866642-102866642	lung	carcinoma; mucoepidermoid_carcinoma	Substitution - Missense
c.701T>A; p.L234H; 13:102861535-102861535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586C>T; p.L196L; 13:102858332-102858332	skin	malignant_melanoma	Substitution - coding silent
c.1605G>T; p.K535N; 13:102862754-102862754	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2083G>T; p.A695S; 13:102865795-102865795	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2191A>T; p.I731F; 13:102865903-102865903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2261A>T; p.K754I; 13:102866323-102866323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1301T>C; p.V434A; 13:102862450-102862450	breast	carcinoma	Substitution - Missense
c.290T>C; p.L97S; 13:102853782-102853782	skin	malignant_melanoma	Substitution - Missense
c.290T>C; p.L97S; 13:102853782-102853782	skin	malignant_melanoma	Substitution - Missense
c.1595C>T; p.S532F; 13:102862744-102862744	breast	carcinoma	Substitution - Missense
c.1672T>C; p.S558P; 13:102862821-102862821	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.180T>G; p.H60Q; 13:102852209-102852209	breast	carcinoma	Substitution - Missense
c.2127C>T; p.D709D; 13:102865839-102865839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1241C>G; p.P414R; 13:102862390-102862390	oesophagus	carcinoma	Substitution - Missense
c.1672T>C; p.S558P; 13:102862821-102862821	stomach	adenocarcinoma	Substitution - Missense
c.232G>A; p.G78R; 13:102852261-102852261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.232G>A; p.G78R; 13:102852261-102852261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1429T>G; p.S477A; 13:102862578-102862578	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2974C>T; p.R992*; 13:102875316-102875316	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2700A>C; p.Q900H; 13:102872219-102872219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2454G>A; p.A818A; 13:102866766-102866766	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3527T>C; p.L1176P; 13:102875869-102875869	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1075G>A; p.E359K; 13:102862224-102862224	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2455C>T; p.R819W; 13:102866767-102866767	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2455C>T; p.R819W; 13:102866767-102866767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2189A>G; p.D730G; 13:102865901-102865901	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2206T>G; p.L736V; 13:102866268-102866268	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1283G>T; p.S428I; 13:102862432-102862432	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3166C>T; p.Q1056*; 13:102875508-102875508	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.395_403delCCAGTCTTA; p.S133_T135delSLT; 13:102854302-102854310	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.1572G>A; p.P524P; 13:102862721-102862721	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.368T>C; p.F123S; 13:102853860-102853860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1815A>G; p.S605S; 13:102862964-102862964	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2282C>T; p.A761V; 13:102866344-102866344	skin	malignant_melanoma	Substitution - Missense
c.3253G>A; p.G1085S; 13:102875595-102875595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2593G>A; p.G865R; 13:102868172-102868172	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2665C>T; p.L889F; 13:102868244-102868244	skin	malignant_melanoma	Substitution - Missense
c.604C>A; p.H202N; 13:102858350-102858350	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.507G>T; p.M169I; 13:102856091-102856091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3458A>G; p.D1153G; 13:102875800-102875800	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2326C>A; p.L776M; 13:102866638-102866638	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.947G>A; p.G316D; 13:102862096-102862096	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.947G>A; p.G316D; 13:102862096-102862096	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2827G>T; p.D943Y; 13:102872346-102872346	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2478T>A; p.F826L; 13:102866790-102866790	skin; trunk	malignant_melanoma	Substitution - Missense
c.2055G>C; p.L685L; 13:102865767-102865767	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2344C>T; p.P782S; 13:102866656-102866656	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.315G>A; p.T105T; 13:102853807-102853807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.537C>A; p.F179L; 13:102858283-102858283	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>A; p.F179L; 13:102858283-102858283	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1033T>A; p.L345I; 13:102862182-102862182	breast	carcinoma	Substitution - Missense
c.2563G>T; p.A855S; 13:102868142-102868142	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.409G>T; p.V137F; 13:102854316-102854316	liver	carcinoma	Substitution - Missense
c.2295C>T; p.T765T; 13:102866357-102866357	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2369C>T; p.A790V; 13:102866681-102866681	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2832G>A; p.S944S; 13:102872351-102872351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2832G>A; p.S944S; 13:102872351-102872351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1042A>G; p.M348V; 13:102862191-102862191	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3233C>T; p.S1078F; 13:102875575-102875575	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1120G>T; p.A374S; 13:102862269-102862269	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2977A>C; p.I993L; 13:102875319-102875319	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3420T>A; p.N1140K; 13:102875762-102875762	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.138T>C; p.H46H; 13:102852167-102852167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1713G>A; p.P571P; 13:102862862-102862862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.138T>C; p.H46H; 13:102852167-102852167	thyroid	other; neoplasm	Substitution - coding silent
c.424G>C; p.D142H; 13:102854331-102854331	breast	carcinoma	Substitution - Missense
c.1375G>A; p.A459T; 13:102862524-102862524	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1191T>A; p.D397E; 13:102862340-102862340	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.881-2A>C; p.?; 13:102862028-102862028	stomach	carcinoma; adenocarcinoma	Unknown
c.749T>C; p.V250A; 13:102861583-102861583	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.265-1G>T; p.?; 13:102853756-102853756	liver	carcinoma	Unknown
c.2866G>A; p.D956N; 13:102872385-102872385	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2743delA; p.K917fs*65; 13:102872262-102872262	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2743delA; p.K917fs*65; 13:102872262-102872262	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2743delA; p.K917fs*65; 13:102872262-102872262	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2743delA; p.K917fs*65; 13:102872262-102872262	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2743delA; p.K917fs*65; 13:102872262-102872262	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2234C>T; p.A745V; 13:102866296-102866296	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.641G>A; p.R214H; 13:102858387-102858387	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1537G>A; p.A513T; 13:102862686-102862686	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1537G>A; p.A513T; 13:102862686-102862686	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1500G>T; p.R500R; 13:102862649-102862649	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3338T>C; p.V1113A; 13:102875680-102875680	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3310G>C; p.D1104H; 13:102875652-102875652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3310G>C; p.D1104H; 13:102875652-102875652	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1579C>T; p.P527S; 13:102862728-102862728	skin; extremity	malignant_melanoma	Substitution - Missense
c.3310G>C; p.D1104H; 13:102875652-102875652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2678C>T; p.S893L; 13:102868257-102868257	parathyroid	adenoma	Substitution - Missense
c.2701A>C; p.K901Q; 13:102872220-102872220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.556A>T; p.I186L; 13:102858302-102858302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2049G>A; p.E683E; 13:102865761-102865761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.555G>A; p.A185A; 13:102858301-102858301	skin	malignant_melanoma	Substitution - coding silent
c.1109G>A; p.R370H; 13:102862258-102862258	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1026A>G; p.P342P; 13:102862175-102862175	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2490G>T; p.K830N; 13:102866802-102866802	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1155C>A; p.P385P; 13:102862304-102862304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1026A>G; p.P342P; 13:102862175-102862175	kidney	other; neoplasm	Substitution - coding silent
c.1843C>T; p.L615L; 13:102862992-102862992	skin	malignant_melanoma	Substitution - coding silent
c.2667C>T; p.L889L; 13:102868246-102868246	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1935G>A; p.S645S; 13:102863084-102863084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3414G>A; p.V1138V; 13:102875756-102875756	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2275C>T; p.R759W; 13:102866337-102866337	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.591C>T; p.P197P; 13:102858337-102858337	breast	carcinoma	Substitution - coding silent
c.2394C>T; p.D798D; 13:102866706-102866706	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1414C>T; p.P472S; 13:102862563-102862563	skin; arm	malignant_melanoma	Substitution - Missense
c.1204A>G; p.K402E; 13:102862353-102862353	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1669G>T; p.D557Y; 13:102862818-102862818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3405A>G; p.E1135E; 13:102875747-102875747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2799C>T; p.A933A; 13:102872318-102872318	skin	malignant_melanoma	Substitution - coding silent
c.36C>A; p.C12*; 13:102846302-102846302	thyroid	other; neoplasm	Substitution - Nonsense
c.1836G>T; p.E612D; 13:102862985-102862985	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.205C>T; p.R69*; 13:102852234-102852234	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.788G>A; p.R263Q; 13:102861622-102861622	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2645C>A; p.P882H; 13:102868224-102868224	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3457G>A; p.D1153N; 13:102875799-102875799	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2645C>A; p.P882H; 13:102868224-102868224	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2913G>A; p.T971T; 13:102873292-102873292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1045C>T; p.Q349*; 13:102862194-102862194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3184A>G; p.N1062D; 13:102875526-102875526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.556A>G; p.I186V; 13:102858302-102858302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2573T>C; p.L858P; 13:102868152-102868152	skin	malignant_melanoma	Substitution - Missense
c.556A>G; p.I186V; 13:102858302-102858302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033C>T; p.S678L; 13:102865745-102865745	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3310G>A; p.D1104N; 13:102875652-102875652	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2953G>A; p.D985N; 13:102873332-102873332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1861C>T; p.Q621*; 13:102863010-102863010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2397G>C; p.L799L; 13:102866709-102866709	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.1861C>T; p.Q621*; 13:102863010-102863010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1507C>T; p.L503L; 13:102862656-102862656	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1861C>G; p.Q621E; 13:102863010-102863010	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1861C>G; p.Q621E; 13:102863010-102863010	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2828A>G; p.D943G; 13:102872347-102872347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1057C>A; p.L353M; 13:102862206-102862206	pancreas	carcinoma	Substitution - Missense
c.2828A>G; p.D943G; 13:102872347-102872347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1057C>A; p.L353M; 13:102862206-102862206	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2459A>G; p.H820R; 13:102866771-102866771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.803A>G; p.D268G; 13:102861637-102861637	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1825A>G; p.K609E; 13:102862974-102862974	prostate	carcinoma	Substitution - Missense
c.2728C>T; p.H910Y; 13:102872247-102872247	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.211C>T; p.R71C; 13:102852240-102852240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2898C>T; p.F966F; 13:102873277-102873277	skin	malignant_melanoma	Substitution - coding silent
c.211C>T; p.R71C; 13:102852240-102852240	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3533G>A; p.R1178H; 13:102875875-102875875	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3207C>A; p.S1069R; 13:102875549-102875549	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1278G>A; p.E426E; 13:102862427-102862427	skin	malignant_melanoma	Substitution - coding silent
c.688T>C; p.S230P; 13:102861522-102861522	skin	malignant_melanoma	Substitution - Missense
c.67G>A; p.E23K; 13:102846333-102846333	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2575G>T; p.G859*; 13:102868154-102868154	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3256G>A; p.G1086R; 13:102875598-102875598	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2178T>C; p.H726H; 13:102865890-102865890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation