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	8863
Symbol	PER3
Synonymous	GIG13
Full name	period circadian clock 3
Gene description	cell growth-inhibiting gene 13 protein\|circadian clock protein PERIOD 3\|growth-inhibiting protein 13\|hPER3\|period 3\|period circadian protein 3\|period circadian protein homolog 3\|period homolog 3
Cytoband	1p36.23
Gene type	protein-coding
Synonymous	MIM:603427; HGNC:HGNC:8847; Ensembl:ENSG00000049246; HPRD:09138; Vega:OTTHUMG00000001216

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2419G>A; p.A807T; 1:7827372-7827372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2804C>T; p.P935L; 1:7827757-7827757	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2234C>T; p.P745L; 1:7827187-7827187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1094G>A; p.R365Q; 1:7803809-7803809	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1094G>A; p.R365Q; 1:7803809-7803809	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2867T>G; p.V956G; 1:7829841-7829841	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1696A>G; p.T566A; 1:7820176-7820176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1696A>G; p.T566A; 1:7820176-7820176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1696A>G; p.T566A; 1:7820176-7820176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1008A>G; p.E336E; 1:7803723-7803723	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.3110C>T; p.S1037F; 1:7830084-7830084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	thyroid	other; neoplasm	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	liver	carcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3010A>G; p.T1004A; 1:7829984-7829984	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	liver	carcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	thyroid	other; neoplasm	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	large_intestine	adenoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	liver	carcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2990T>G; p.M997R; 1:7829964-7829964	liver	carcinoma	Substitution - Missense
c.2355C>T; p.F785F; 1:7827308-7827308	skin	malignant_melanoma	Substitution - coding silent
c.624T>C; p.P208P; 1:7793991-7793991	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3394G>A; p.E1132K; 1:7837021-7837021	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3394G>A; p.E1132K; 1:7837021-7837021	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2221C>T; p.R741W; 1:7827174-7827174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2363C>T; p.A788V; 1:7827316-7827316	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2352C>T; p.T784T; 1:7827305-7827305	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3280G>C; p.E1094Q; 1:7835854-7835854	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1016C>T; p.P339L; 1:7803731-7803731	skin; acral	malignant_melanoma	Substitution - Missense
c.966A>G; p.I322M; 1:7803143-7803143	skin	malignant_melanoma	Substitution - Missense
c.224G>A; p.S75N; 1:7785536-7785536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1034delA; p.N346fs*15; 1:7803749-7803749	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.68C>T; p.S23L; 1:7784945-7784945	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2902A>G; p.T968A; 1:7829876-7829876	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2229G>T; p.K743N; 1:7827182-7827182	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1810C>T; p.R604W; 1:7820517-7820517	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1810C>T; p.R604W; 1:7820517-7820517	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2105C>T; p.P702L; 1:7826651-7826651	skin	malignant_melanoma	Substitution - Missense
c.2486T>G; p.L829W; 1:7827439-7827439	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2105C>T; p.P702L; 1:7826651-7826651	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2486T>G; p.L829W; 1:7827439-7827439	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.10G>T; p.G4W; 1:7784887-7784887	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2907C>T; p.T969T; 1:7829881-7829881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2907C>T; p.T969T; 1:7829881-7829881	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3592G>C; p.E1198Q; 1:7842741-7842741	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3030A>G; p.T1010T; 1:7830004-7830004	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3030A>G; p.T1010T; 1:7830004-7830004	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.196T>G; p.F66V; 1:7785508-7785508	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3030A>G; p.T1010T; 1:7830004-7830004	breast	carcinoma	Substitution - coding silent
c.2532G>T; p.L844F; 1:7827485-7827485	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2199C>T; p.G733G; 1:7827152-7827152	skin	malignant_melanoma	Substitution - coding silent
c.718_719insGA; p.P240fs*31; 1:7798601-7798602	kidney	Wilms_tumour	Insertion - Frameshift
c.1998G>A; p.S666S; 1:7826544-7826544	breast	carcinoma	Substitution - coding silent
c.2597delT; p.L866fs*22; 1:7827550-7827550	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.1335T>C; p.S445S; 1:7809988-7809988	thyroid	other; neoplasm	Substitution - coding silent
c.918G>A; p.S306S; 1:7803095-7803095	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.759T>G; p.T253T; 1:7798642-7798642	prostate	carcinoma	Substitution - coding silent
c.667A>G; p.K223E; 1:7798550-7798550	breast	carcinoma	Substitution - Missense
c.2968C>T; p.L990L; 1:7829942-7829942	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1996T>C; p.S666P; 1:7826542-7826542	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1378C>T; p.Q460*; 1:7810447-7810447	skin	malignant_melanoma	Substitution - Nonsense
c.2418C>T; p.A806A; 1:7827371-7827371	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.338A>T; p.Y113F; 1:7786784-7786784	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1129C>T; p.R377*; 1:7803844-7803844	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1877G>A; p.G626D; 1:7820584-7820584	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1129C>T; p.R377*; 1:7803844-7803844	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1129C>T; p.R377*; 1:7803844-7803844	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2017G>A; p.G673R; 1:7826563-7826563	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.207G>A; p.E69E; 1:7785519-7785519	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2785T>G; p.L929V; 1:7827738-7827738	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3300C>T; p.A1100A; 1:7835874-7835874	skin	malignant_melanoma	Substitution - coding silent
c.1697C>T; p.T566I; 1:7820177-7820177	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.859G>T; p.V287L; 1:7801181-7801181	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	thyroid	other; neoplasm	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	thyroid	other; neoplasm	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	liver	carcinoma	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.2395G>A; p.V799I; 1:7827348-7827348	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2992A>G; p.K998E; 1:7829966-7829966	liver	carcinoma	Substitution - Missense
c.2451C>T; p.P817P; 1:7827404-7827404	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1091G>T; p.S364I; 1:7803806-7803806	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3083T>C; p.M1028T; 1:7830057-7830057	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3083T>C; p.M1028T; 1:7830057-7830057	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3485T>C; p.I1162T; 1:7837112-7837112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2592G>A; p.S864S; 1:7827545-7827545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2592G>A; p.S864S; 1:7827545-7827545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2397C>A; p.V799V; 1:7827350-7827350	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3004C>T; p.H1002Y; 1:7829978-7829978	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3004C>T; p.H1002Y; 1:7829978-7829978	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2288C>T; p.A763V; 1:7827241-7827241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1511C>A; p.T504N; 1:7819297-7819297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3004C>T; p.H1002Y; 1:7829978-7829978	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1142T>C; p.L381P; 1:7808901-7808901	pancreas	carcinoma	Substitution - Missense
c.2192_2195delCGGC; p.G733fs*115; 1:7827145-7827148	pancreas	NS	Deletion - Frameshift
c.2193G>A; p.S731S; 1:7827146-7827146	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.755T>A; p.L252H; 1:7798638-7798638	breast	carcinoma	Substitution - Missense
c.2774T>G; p.L925W; 1:7827727-7827727	skin	malignant_melanoma	Substitution - Missense
c.1997C>A; p.S666*; 1:7826543-7826543	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.979T>C; p.L327L; 1:7803694-7803694	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2431G>A; p.G811R; 1:7827384-7827384	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2382G>T; p.Q794H; 1:7827335-7827335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2099C>A; p.S700*; 1:7826645-7826645	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1698T>C; p.T566T; 1:7820178-7820178	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2029G>A; p.A677T; 1:7826575-7826575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1698T>C; p.T566T; 1:7820178-7820178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3325C>T; p.R1109W; 1:7835899-7835899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>T; p.E61*; 1:7785493-7785493	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1856C>T; p.A619V; 1:7820563-7820563	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2030C>T; p.A677V; 1:7826576-7826576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.13G>A; p.E5K; 1:7784890-7784890	skin	malignant_melanoma	Substitution - Missense
c.1231C>A; p.L411I; 1:7808990-7808990	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1706C>T; p.S569F; 1:7820186-7820186	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1231C>A; p.L411I; 1:7808990-7808990	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1231C>A; p.L411I; 1:7808990-7808990	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1231C>A; p.L411I; 1:7808990-7808990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2081T>C; p.F694S; 1:7826627-7826627	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3021T>A; p.A1007A; 1:7829995-7829995	breast	carcinoma	Substitution - coding silent
c.3021T>A; p.A1007A; 1:7829995-7829995	breast	carcinoma	Substitution - coding silent
c.3021T>A; p.A1007A; 1:7829995-7829995	breast	carcinoma	Substitution - coding silent
c.3064_3074del11; p.A1023fs*47; 1:7830038-7830048	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3021T>A; p.A1007A; 1:7829995-7829995	breast	carcinoma	Substitution - coding silent
c.3021T>A; p.A1007A; 1:7829995-7829995	breast	carcinoma	Substitution - coding silent
c.3021T>A; p.A1007A; 1:7829995-7829995	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3021T>A; p.A1007A; 1:7829995-7829995	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1670G>A; p.R557K; 1:7820150-7820150	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2618C>T; p.A873V; 1:7827571-7827571	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.172G>A; p.V58I; 1:7785484-7785484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2618C>T; p.A873V; 1:7827571-7827571	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>G; p.R493G; 1:7810546-7810546	oesophagus	carcinoma	Substitution - Missense
c.2618C>T; p.A873V; 1:7827571-7827571	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2779T>G; p.L927V; 1:7827732-7827732	breast	carcinoma	Substitution - Missense
c.3053C>T; p.P1018L; 1:7830027-7830027	skin	malignant_melanoma	Substitution - Missense
c.2103A>C; p.S701S; 1:7826649-7826649	breast	carcinoma	Substitution - coding silent
c.565C>T; p.P189S; 1:7788219-7788219	skin	malignant_melanoma	Substitution - Missense
c.1969C>T; p.L657L; 1:7826515-7826515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2851C>T; p.Q951*; 1:7827804-7827804	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2913A>G; p.A971A; 1:7829887-7829887	thyroid	other; neoplasm	Substitution - coding silent
c.2258C>T; p.S753L; 1:7827211-7827211	skin; shoulder	malignant_melanoma	Substitution - Missense
c.1103C>A; p.S368Y; 1:7803818-7803818	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2235G>A; p.P745P; 1:7827188-7827188	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2258C>T; p.S753L; 1:7827211-7827211	breast	carcinoma	Substitution - Missense
c.257G>A; p.C86Y; 1:7785569-7785569	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.2247C>G; p.D749E; 1:7827200-7827200	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1009_1016delCATTCTCC; p.P339fs*34; 1:7803724-7803731	breast	carcinoma	Deletion - Frameshift
c.2104C>A; p.P702T; 1:7826650-7826650	prostate	adenoma	Substitution - Missense
c.2984C>T; p.P995L; 1:7829958-7829958	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2682C>T; p.P894P; 1:7827635-7827635	skin	malignant_melanoma	Substitution - coding silent
c.478G>C; p.D160H; 1:7788132-7788132	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.252C>G; p.L84L; 1:7785564-7785564	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.35delG; p.A14fs*49; 1:7784912-7784912	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.195C>T; p.Y65Y; 1:7785507-7785507	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.195C>T; p.Y65Y; 1:7785507-7785507	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.195C>T; p.Y65Y; 1:7785507-7785507	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3446A>G; p.H1149R; 1:7837073-7837073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.716A>G; p.H239R; 1:7798599-7798599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.796C>T; p.R266W; 1:7801118-7801118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3111C>T; p.S1037S; 1:7830085-7830085	skin	malignant_melanoma	Substitution - coding silent
c.855T>C; p.L285L; 1:7801177-7801177	skin	malignant_melanoma	Substitution - coding silent
c.3332C>T; p.T1111I; 1:7835906-7835906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.231A>C; p.L77L; 1:7785543-7785543	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2528A>T; p.Y843F; 1:7827481-7827481	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1593C>T; p.S531S; 1:7819379-7819379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.977-4A>G; p.?; 1:7803688-7803688	liver	carcinoma	Unknown
c.977-4A>G; p.?; 1:7803688-7803688	liver	carcinoma	Unknown
c.2083C>T; p.R695*; 1:7826629-7826629	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.346G>A; p.E116K; 1:7786792-7786792	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2083C>T; p.R695*; 1:7826629-7826629	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2381A>G; p.Q794R; 1:7827334-7827334	breast	carcinoma	Substitution - Missense
c.2395G>T; p.V799F; 1:7827348-7827348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2398C>T; p.P800S; 1:7827351-7827351	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.116A>G; p.D39G; 1:7784993-7784993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.142C>T; p.R48*; 1:7785454-7785454	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2692A>C; p.T898P; 1:7827645-7827645	breast	carcinoma	Substitution - Missense
c.1820A>G; p.D607G; 1:7820527-7820527	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2562C>A; p.D854E; 1:7827515-7827515	liver	carcinoma	Substitution - Missense
c.798G>A; p.R266R; 1:7801120-7801120	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.798G>A; p.R266R; 1:7801120-7801120	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.789A>T; p.E263D; 1:7798672-7798672	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1001C>T; p.P334L; 1:7803716-7803716	skin	malignant_melanoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	breast	carcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2787A>G; p.L929L; 1:7827740-7827740	kidney	other; neoplasm	Substitution - coding silent
c.1231C>T; p.L411F; 1:7808990-7808990	breast	carcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	breast	carcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	breast	carcinoma	Substitution - Missense
c.940G>A; p.E314K; 1:7803117-7803117	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.940G>A; p.E314K; 1:7803117-7803117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3019G>A; p.A1007T; 1:7829993-7829993	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3297C>T; p.V1099V; 1:7835871-7835871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2443G>A; p.A815T; 1:7827396-7827396	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.268G>A; p.V90I; 1:7785580-7785580	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3119C>T; p.T1040I; 1:7830093-7830093	skin	malignant_melanoma	Substitution - Missense
c.746C>A; p.P249H; 1:7798629-7798629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.198C>T; p.F66F; 1:7785510-7785510	skin	malignant_melanoma	Substitution - coding silent
c.390+1G>C; p.?; 1:7786837-7786837	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.3364_3365CC>TT; p.P1122F; 1:7835938-7835939	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2803C>T; p.P935S; 1:7827756-7827756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2187G>A; p.T729T; 1:7827140-7827140	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2518C>T; p.P840S; 1:7827471-7827471	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2976A>G; p.T992T; 1:7829950-7829950	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3495G>C; p.Q1165H; 1:7837122-7837122	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3495G>C; p.Q1165H; 1:7837122-7837122	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2566C>T; p.P856S; 1:7827519-7827519	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1556C>G; p.T519S; 1:7819342-7819342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3094C>T; p.P1032S; 1:7830068-7830068	breast	carcinoma	Substitution - Missense
c.2845T>C; p.C949R; 1:7827798-7827798	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.215A>G; p.N72S; 1:7785527-7785527	liver	carcinoma	Substitution - Missense
c.215A>G; p.N72S; 1:7785527-7785527	liver	carcinoma	Substitution - Missense
c.33A>G; p.R11R; 1:7784910-7784910	skin	malignant_melanoma	Substitution - coding silent
c.2681C>T; p.P894L; 1:7827634-7827634	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.255C>A; p.R85R; 1:7785567-7785567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.815G>A; p.R272K; 1:7801137-7801137	skin	malignant_melanoma	Substitution - Missense
c.870-1G>A; p.?; 1:7803046-7803046	skin	malignant_melanoma	Unknown
c.1310G>A; p.S437N; 1:7809963-7809963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.840A>C; p.P280P; 1:7801162-7801162	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - coding silent
c.2517C>T; p.F839F; 1:7827470-7827470	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.48C>T; p.D16D; 1:7784925-7784925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2821C>T; p.P941S; 1:7827774-7827774	skin; extremity	malignant_melanoma	Substitution - Missense
c.1775C>T; p.P592L; 1:7820482-7820482	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2249G>A; p.S750N; 1:7827202-7827202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.484C>A; p.L162M; 1:7788138-7788138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1620C>T; p.I540I; 1:7819406-7819406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3486T>G; p.I1162M; 1:7837113-7837113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2002G>T; p.E668*; 1:7826548-7826548	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.946C>T; p.R316C; 1:7803123-7803123	skin	malignant_melanoma	Substitution - Missense
c.946C>T; p.R316C; 1:7803123-7803123	skin	malignant_melanoma	Substitution - Missense
c.946C>T; p.R316C; 1:7803123-7803123	skin	malignant_melanoma	Substitution - Missense
c.946C>T; p.R316C; 1:7803123-7803123	skin	malignant_melanoma	Substitution - Missense
c.469C>T; p.R157C; 1:7788123-7788123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.699T>G; p.Y233*; 1:7798582-7798582	liver	carcinoma	Substitution - Nonsense
c.699T>G; p.Y233*; 1:7798582-7798582	liver	carcinoma	Substitution - Nonsense
c.1742A>G; p.D581G; 1:7820222-7820222	liver	carcinoma	Substitution - Missense
c.2084G>A; p.R695Q; 1:7826630-7826630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2084G>A; p.R695Q; 1:7826630-7826630	breast	carcinoma	Substitution - Missense
c.869+5G>T; p.?; 1:7801196-7801196	liver	carcinoma	Unknown
c.542C>T; p.A181V; 1:7788196-7788196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1549G>T; p.V517L; 1:7819335-7819335	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.542C>T; p.A181V; 1:7788196-7788196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation