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	1829
Symbol	DSG2
Synonymous	ARVC10\|ARVD10\|CDHF5\|CMD1BB\|HDGC
Full name	desmoglein 2
Gene description	HDGC\|cadherin family member 5\|desmoglein-2
Cytoband	18q12.1
Gene type	protein-coding
Synonymous	MIM:125671; HGNC:HGNC:3049; Ensembl:ENSG00000046604; HPRD:00516; Vega:OTTHUMG00000179649

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1888C>T; p.L630F; 18:31541201-31541201	skin	malignant_melanoma	Substitution - Missense
c.2219T>C; p.M740T; 18:31542737-31542737	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>A; p.R119Q; 18:31520942-31520942	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1250A>T; p.D417V; 18:31531222-31531222	skin	malignant_melanoma	Substitution - Missense
c.2898G>T; p.R966S; 18:31546284-31546284	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1063G>T; p.A355S; 18:31531035-31531035	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3239G>T; p.G1080V; 18:31546625-31546625	pancreas	carcinoma	Substitution - Missense
c.691-2A>G; p.?; 18:31524446-31524446	lung	carcinoma; adenocarcinoma	Unknown
c.2239A>T; p.T747S; 18:31542757-31542757	prostate	carcinoma	Substitution - Missense
c.2590A>G; p.N864D; 18:31545976-31545976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.21C>T; p.R7R; 18:31498272-31498272	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2604T>C; p.H868H; 18:31545990-31545990	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2432T>C; p.I811T; 18:31545818-31545818	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3264T>C; p.F1088F; 18:31546650-31546650	central_nervous_system; brain	glioma	Substitution - coding silent
c.1244C>T; p.A415V; 18:31531216-31531216	skin	malignant_melanoma	Substitution - Missense
c.2871G>A; p.Q957Q; 18:31546257-31546257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.600C>T; p.I200I; 18:31522159-31522159	central_nervous_system; brain	glioma	Substitution - coding silent
c.600C>T; p.I200I; 18:31522159-31522159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2305G>A; p.E769K; 18:31542823-31542823	skin	malignant_melanoma	Substitution - Missense
c.2305G>A; p.E769K; 18:31542823-31542823	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2305G>A; p.E769K; 18:31542823-31542823	skin	malignant_melanoma	Substitution - Missense
c.2305G>A; p.E769K; 18:31542823-31542823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1613C>T; p.P538L; 18:31536391-31536391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2212G>A; p.A738T; 18:31542730-31542730	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>A; p.E34K; 18:31519821-31519821	skin	malignant_melanoma	Substitution - Missense
c.2749G>T; p.A917S; 18:31546135-31546135	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2528delA; p.I845fs*1; 18:31545914-31545914	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.991G>A; p.E331K; 18:31524865-31524865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2293G>C; p.V765L; 18:31542811-31542811	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2988G>T; p.G996G; 18:31546374-31546374	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2969G>C; p.R990T; 18:31546355-31546355	urinary_tract; bladder	carcinoma	Substitution - Missense
c.516T>C; p.S172S; 18:31521236-31521236	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1304A>G; p.D435G; 18:31535293-31535293	stomach	adenocarcinoma	Substitution - Missense
c.473T>G; p.V158G; 18:31521193-31521193	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.473T>G; p.V158G; 18:31521193-31521193	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.473T>G; p.V158G; 18:31521193-31521193	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.671G>T; p.S224I; 18:31522230-31522230	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1561G>T; p.D521Y; 18:31536339-31536339	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.961T>A; p.F321I; 18:31524835-31524835	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3214A>T; p.R1072W; 18:31546600-31546600	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.852T>C; p.N284N; 18:31524726-31524726	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1614T>C; p.P538P; 18:31536392-31536392	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2048G>A; p.G683E; 18:31542566-31542566	skin	malignant_melanoma	Substitution - Missense
c.148G>T; p.A50S; 18:31519869-31519869	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2751G>A; p.A917A; 18:31546137-31546137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1489C>A; p.P497T; 18:31536267-31536267	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3006G>C; p.L1002L; 18:31546392-31546392	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2633C>T; p.S878L; 18:31546019-31546019	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1192A>G; p.S398G; 18:31531164-31531164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1280+1G>A; p.?; 18:31531253-31531253	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.652G>A; p.G218R; 18:31522211-31522211	skin	malignant_melanoma	Substitution - Missense
c.730G>A; p.G244S; 18:31524487-31524487	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1098T>C; p.S366S; 18:31531070-31531070	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.874C>T; p.R292C; 18:31524748-31524748	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2847C>A; p.T949T; 18:31546233-31546233	bone	chondrosarcoma	Substitution - coding silent
c.874C>T; p.R292C; 18:31524748-31524748	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2261C>T; p.S754F; 18:31542779-31542779	skin	malignant_melanoma	Substitution - Missense
c.2261C>T; p.S754F; 18:31542779-31542779	skin	malignant_melanoma	Substitution - Missense
c.1514C>T; p.T505I; 18:31536292-31536292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2706A>C; p.V902V; 18:31546092-31546092	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.213C>A; p.A71A; 18:31519934-31519934	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.219A>G; p.I73M; 18:31520805-31520805	breast	carcinoma	Substitution - Missense
c.523C>T; p.H175Y; 18:31521243-31521243	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.523C>T; p.H175Y; 18:31521243-31521243	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2139G>A; p.E713E; 18:31542657-31542657	skin	malignant_melanoma	Substitution - coding silent
c.2152T>G; p.W718G; 18:31542670-31542670	breast	carcinoma	Substitution - Missense
c.1494A>C; p.T498T; 18:31536272-31536272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1918G>A; p.G640S; 18:31541231-31541231	skin	malignant_melanoma	Substitution - Missense
c.2563C>A; p.Q855K; 18:31545949-31545949	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2000A>G; p.K667R; 18:31541313-31541313	skin	malignant_melanoma	Substitution - Missense
c.725G>A; p.R242K; 18:31524482-31524482	skin	malignant_melanoma	Substitution - Missense
c.1710C>G; p.F570L; 18:31538809-31538809	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3342G>A; p.Q1114Q; 18:31546728-31546728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.180G>C; p.E60D; 18:31519901-31519901	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1607A>G; p.K536R; 18:31536385-31536385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1912G>A; p.G638R; 18:31541225-31541225	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2164A>T; p.R722*; 18:31542682-31542682	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.136C>T; p.R46W; 18:31519857-31519857	prostate	carcinoma	Substitution - Missense
c.1921G>A; p.A641T; 18:31541234-31541234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.89G>A; p.S30N; 18:31519810-31519810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3169C>T; p.L1057L; 18:31546555-31546555	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1900A>G; p.M634V; 18:31541213-31541213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.861C>T; p.N287N; 18:31524735-31524735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2627T>C; p.V876A; 18:31546013-31546013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.861C>T; p.N287N; 18:31524735-31524735	thyroid	other; neoplasm	Substitution - coding silent
c.1556A>G; p.D519G; 18:31536334-31536334	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1545T>C; p.V515V; 18:31536323-31536323	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1994A>G; p.E665G; 18:31541307-31541307	central_nervous_system; brain	glioma	Substitution - Missense
c.1556A>G; p.D519G; 18:31536334-31536334	stomach	adenocarcinoma	Substitution - Missense
c.3147A>C; p.R1049S; 18:31546533-31546533	pancreas	carcinoma	Substitution - Missense
c.2476T>G; p.L826V; 18:31545862-31545862	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3147A>C; p.R1049S; 18:31546533-31546533	pancreas	carcinoma	Substitution - Missense
c.2359G>T; p.D787Y; 18:31545745-31545745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2407G>A; p.E803K; 18:31545793-31545793	skin	malignant_melanoma	Substitution - Missense
c.2418G>A; p.S806S; 18:31545804-31545804	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1552G>C; p.E518Q; 18:31536330-31536330	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1596C>T; p.S532S; 18:31536374-31536374	skin	malignant_melanoma	Substitution - coding silent
c.124C>A; p.P42T; 18:31519845-31519845	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.429A>C; p.L143F; 18:31521149-31521149	skin	malignant_melanoma	Substitution - Missense
c.605C>A; p.S202Y; 18:31522164-31522164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1093A>T; p.R365W; 18:31531065-31531065	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>A; p.D185N; 18:31522112-31522112	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2940T>C; p.A980A; 18:31546326-31546326	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.605C>A; p.S202Y; 18:31522164-31522164	pancreas	carcinoma	Substitution - Missense
c.553G>A; p.D185N; 18:31522112-31522112	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2129A>G; p.E710G; 18:31542647-31542647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2491C>T; p.L831F; 18:31545877-31545877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.46-1G>T; p.?; 18:31518238-31518238	breast	carcinoma	Unknown
c.1702A>C; p.I568L; 18:31538801-31538801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.466G>A; p.E156K; 18:31521186-31521186	skin	malignant_melanoma	Substitution - Missense
c.706A>G; p.T236A; 18:31524463-31524463	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.706A>G; p.T236A; 18:31524463-31524463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.355C>T; p.R119*; 18:31520941-31520941	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.355C>T; p.R119*; 18:31520941-31520941	skin	malignant_melanoma	Substitution - Nonsense
c.2553T>C; p.I851I; 18:31545939-31545939	liver	carcinoma	Substitution - coding silent
c.2543A>G; p.N848S; 18:31545929-31545929	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.582G>A; p.S194S; 18:31522141-31522141	skin	malignant_melanoma	Substitution - coding silent
c.157A>T; p.T53S; 18:31519878-31519878	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.582G>A; p.S194S; 18:31522141-31522141	skin	malignant_melanoma	Substitution - coding silent
c.582G>A; p.S194S; 18:31522141-31522141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3165C>T; p.S1055S; 18:31546551-31546551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1711C>T; p.L571L; 18:31538810-31538810	skin	malignant_melanoma	Substitution - coding silent
c.2572G>A; p.A858T; 18:31545958-31545958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1262G>C; p.G421A; 18:31531234-31531234	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2713G>A; p.E905K; 18:31546099-31546099	skin	malignant_melanoma	Substitution - Missense
c.2713G>A; p.E905K; 18:31546099-31546099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.S197F; 18:31522149-31522149	skin	malignant_melanoma	Substitution - Missense
c.3126G>A; p.Q1042Q; 18:31546512-31546512	skin	malignant_melanoma	Substitution - coding silent
c.2211C>T; p.G737G; 18:31542729-31542729	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.590C>T; p.S197F; 18:31522149-31522149	skin	malignant_melanoma	Substitution - Missense
c.2211C>T; p.G737G; 18:31542729-31542729	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.590C>T; p.S197F; 18:31522149-31522149	skin	malignant_melanoma	Substitution - Missense
c.1199G>A; p.S400N; 18:31531171-31531171	skin	malignant_melanoma	Substitution - Missense
c.3164C>T; p.S1055F; 18:31546550-31546550	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.845A>G; p.E282G; 18:31524719-31524719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1045G>A; p.D349N; 18:31531017-31531017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2380G>T; p.D794Y; 18:31545766-31545766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1121C>T; p.P374L; 18:31531093-31531093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1734T>C; p.F578F; 18:31538833-31538833	skin	malignant_melanoma	Substitution - coding silent
c.1734T>C; p.F578F; 18:31538833-31538833	liver	carcinoma	Substitution - coding silent
c.873G>A; p.T291T; 18:31524747-31524747	skin	malignant_melanoma	Substitution - coding silent
c.2986G>T; p.G996W; 18:31546372-31546372	central_nervous_system; brain	glioma	Substitution - Missense
c.781C>T; p.R261C; 18:31524538-31524538	skin; upper_back	malignant_melanoma	Substitution - Missense
c.3253C>G; p.L1085V; 18:31546639-31546639	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1297G>T; p.D433Y; 18:31535286-31535286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3224C>T; p.T1075M; 18:31546610-31546610	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3082G>A; p.G1028S; 18:31546468-31546468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1404G>T; p.K468N; 18:31535393-31535393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.165C>T; p.P55P; 18:31519886-31519886	central_nervous_system; brain	glioma	Substitution - coding silent
c.564G>A; p.E188E; 18:31522123-31522123	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.169G>A; p.A57T; 18:31519890-31519890	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1219G>A; p.G407S; 18:31531191-31531191	liver	carcinoma	Substitution - Missense
c.1137G>A; p.V379V; 18:31531109-31531109	skin	malignant_melanoma	Substitution - coding silent
c.643A>C; p.K215Q; 18:31522202-31522202	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1429C>T; p.P477S; 18:31536207-31536207	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2981C>A; p.P994H; 18:31546367-31546367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.823A>C; p.K275Q; 18:31524580-31524580	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3066C>T; p.F1022F; 18:31546452-31546452	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.823A>C; p.K275Q; 18:31524580-31524580	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1911C>T; p.C637C; 18:31541224-31541224	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.145C>T; p.R49C; 18:31519866-31519866	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.145C>T; p.R49C; 18:31519866-31519866	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1911C>T; p.C637C; 18:31541224-31541224	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2207C>T; p.T736I; 18:31542725-31542725	liver	carcinoma	Substitution - Missense
c.2128G>C; p.E710Q; 18:31542646-31542646	breast	carcinoma	Substitution - Missense
c.690+5G>T; p.?; 18:31522254-31522254	soft_tissue; blood_vessel	angiosarcoma	Unknown
c.581C>T; p.S194L; 18:31522140-31522140	skin	malignant_melanoma	Substitution - Missense
c.581C>T; p.S194L; 18:31522140-31522140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2505A>G; p.T835T; 18:31545891-31545891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2505A>G; p.T835T; 18:31545891-31545891	thyroid	other; neoplasm	Substitution - coding silent
c.2318G>A; p.R773K; 18:31542836-31542836	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1920C>T; p.G640G; 18:31541233-31541233	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3321T>C; p.V1107V; 18:31546707-31546707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2275G>A; p.G759R; 18:31542793-31542793	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.905G>A; p.G302D; 18:31524779-31524779	skin	malignant_melanoma	Substitution - Missense
c.2671C>T; p.P891S; 18:31546057-31546057	skin	malignant_melanoma	Substitution - Missense
c.379C>G; p.L127V; 18:31521099-31521099	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.623C>T; p.P208L; 18:31522182-31522182	skin	malignant_melanoma	Substitution - Missense
c.3042C>T; p.V1014V; 18:31546428-31546428	skin	malignant_melanoma	Substitution - coding silent
c.623C>T; p.P208L; 18:31522182-31522182	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.622C>T; p.P208S; 18:31522181-31522181	skin; trunk	malignant_melanoma	Substitution - Missense
c.499T>A; p.S167T; 18:31521219-31521219	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.294T>G; p.P98P; 18:31520880-31520880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2051G>A; p.R684K; 18:31542569-31542569	skin	malignant_melanoma	Substitution - Missense
c.2792G>C; p.R931T; 18:31546178-31546178	central_nervous_system; brain	glioma	Substitution - Missense
c.3274G>T; p.E1092*; 18:31546660-31546660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2029C>A; p.Q677K; 18:31542547-31542547	skin	malignant_melanoma	Substitution - Missense
c.1793G>A; p.G598D; 18:31538892-31538892	prostate	carcinoma	Substitution - Missense
c.1308T>C; p.N436N; 18:31535297-31535297	oesophagus	carcinoma	Substitution - coding silent
c.1674A>C; p.Q558H; 18:31538773-31538773	ovary	other; neoplasm	Substitution - Missense
c.2241C>T; p.T747T; 18:31542759-31542759	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1276G>A; p.A426T; 18:31531248-31531248	large_intestine; rectum	NS	Substitution - Missense
c.2209G>T; p.G737C; 18:31542727-31542727	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.152G>T; p.W51L; 18:31519873-31519873	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1741C>T; p.P581S; 18:31538840-31538840	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.1980A>G; p.E660E; 18:31541293-31541293	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1741C>T; p.P581S; 18:31538840-31538840	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.2536G>C; p.D846H; 18:31545922-31545922	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1608A>T; p.K536N; 18:31536386-31536386	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.928T>G; p.F310V; 18:31524802-31524802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2780C>A; p.P927Q; 18:31546166-31546166	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.404G>A; p.R135K; 18:31521124-31521124	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3226G>A; p.V1076M; 18:31546612-31546612	skin	malignant_melanoma	Substitution - Missense
c.1525G>A; p.D509N; 18:31536303-31536303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1525G>A; p.D509N; 18:31536303-31536303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2308G>T; p.E770*; 18:31542826-31542826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2816C>A; p.S939Y; 18:31546202-31546202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.537G>A; p.M179I; 18:31522096-31522096	skin	malignant_melanoma	Substitution - Missense
c.1461C>T; p.I487I; 18:31536239-31536239	skin	malignant_melanoma	Substitution - coding silent
c.1726C>T; p.Q576*; 18:31538825-31538825	breast	carcinoma	Substitution - Nonsense
c.734A>G; p.N245S; 18:31524491-31524491	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1495C>A; p.L499M; 18:31536273-31536273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.E317K; 18:31524823-31524823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1411G>A; p.A471T; 18:31535400-31535400	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2759T>G; p.V920G; 18:31546145-31546145	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.745A>T; p.T249S; 18:31524502-31524502	autonomic_ganglia	neuroblastoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation