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	5079
Symbol	PAX5
Synonymous	ALL3\|BSAP
Full name	paired box 5
Gene description	B-cell lineage specific activator\|paired box homeotic gene 5\|paired box protein Pax-5\|paired domain gene 5\|transcription factor PAX 5
Cytoband	9p13
Gene type	protein-coding
Synonymous	MIM:167414; HGNC:HGNC:8619; Ensembl:ENSG00000196092; HPRD:01334; Vega:OTTHUMG00000019907

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.270C>A; p.V90V; 9:37015137-37015137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1063A>C; p.N355H; 9:36846879-36846879	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.416T>C; p.I139T; 9:37006532-37006532	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1-?_46del; p.?; 9:37033986-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.924G>T; p.A308A; 9:36882092-36882092	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.110T>C; p.V37A; 9:37020738-37020738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.D276N; 9:36923439-36923439	skin; mucosal	malignant_melanoma	Substitution - Missense
c.869G>A; p.G290E; 9:36923396-36923396	skin	malignant_melanoma	Substitution - Missense
c.106G>T; p.V36L; 9:37020742-37020742	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.158A>T; p.D53V; 9:37020690-37020690	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.395T>G; p.V132G; 9:37015012-37015012	skin	malignant_melanoma	Substitution - Missense
c.102G>A; p.P34P; 9:37020746-37020746	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1153G>A; p.A385T; 9:36840583-36840583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.101C>A; p.P34Q; 9:37020747-37020747	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1138G>A; p.A380T; 9:36840598-36840598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.521C>T; p.S174L; 9:37002731-37002731	breast	carcinoma	Substitution - Missense
c.190delT; p.C64fs*19; 9:37020658-37020658	breast	carcinoma	Deletion - Frameshift
c.910+2T>C; p.?; 9:36923353-36923353	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.945C>T; p.Y315Y; 9:36882071-36882071	skin	malignant_melanoma	Substitution - coding silent
c.1076G>A; p.R359K; 9:36846866-36846866	skin	malignant_melanoma	Substitution - Missense
c.224C>G; p.T75R; 9:37015183-37015183	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.338A>T; p.E113V; 9:37015069-37015069	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.674G>A; p.R225Q; 9:36966655-36966655	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.939C>T; p.P313P; 9:36882077-36882077	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.714C>T; p.D238D; 9:36966615-36966615	skin	malignant_melanoma	Substitution - coding silent
c.76G>T; p.V26F; 9:37020772-37020772	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.76G>T; p.V26F; 9:37020772-37020772	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.76G>T; p.V26F; 9:37020772-37020772	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.910G>T; p.G304C; 9:36923355-36923355	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.239C>G; p.P80R; 9:37015168-37015168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.900C>T; p.P300P; 9:36923365-36923365	pancreas	carcinoma	Substitution - coding silent
c.290A>G; p.E97G; 9:37015117-37015117	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.781-?_1176+?del; p.?; 9:36840560-36923484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.781-?_1176+?del; p.?; 9:36840560-36923484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.781-?_1176+?del; p.?; 9:36840560-36923484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.867C>T; p.I289I; 9:36923398-36923398	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.781-?_1099+?del; p.?; 9:36846843-36923484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.771G>C; p.K257N; 9:36966558-36966558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.577_578ins15; p.D193>GGTRAN; 9:37002674-37002675	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - insertion inframe
c.930G>A; p.T310T; 9:36882086-36882086	breast	carcinoma	Substitution - coding silent
c.605-?_1012+?del; p.?; 9:36882004-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_1012+?del; p.?; 9:36882004-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_1012+?del; p.?; 9:36882004-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.794C>T; p.S265L; 9:36923471-36923471	breast	carcinoma	Substitution - Missense
c.46G>C; p.G16R; 9:37033986-37033986	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.955_956insC; p.V319fs*22; 9:36882060-36882061	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.34A>G; p.T12A; 9:37033998-37033998	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.955_956insC; p.V319fs*22; 9:36882060-36882061	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.605-?_910+?del; p.?; 9:36923355-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_910+?del; p.?; 9:36923355-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.899C>A; p.P300H; 9:36923366-36923366	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.92G>A; p.R31Q; 9:37020756-37020756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.213-?_1176+?del; p.?; 9:37014231-37015194	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.175C>G; p.R59G; 9:37020673-37020673	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1093C>T; p.L365L; 9:36846849-36846849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1A>G; p.M1V; 9:37034031-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.986C>T; p.A329V; 9:36882030-36882030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1013-20_1014del22; p.?; 9:36846928-36846949	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.1110C>T; p.Y370Y; 9:36840626-36840626	thyroid	other; neoplasm	Substitution - coding silent
c.1110C>T; p.Y370Y; 9:36840626-36840626	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.950C>A; p.P317Q; 9:36882066-36882066	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1086C>A; p.N362K; 9:36846856-36846856	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.87T>A; p.N29K; 9:37020761-37020761	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1013-?_1099+?del; p.?; 9:36846843-36846929	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_780+?del; p.?; 9:36966549-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.814G>T; p.G272C; 9:36923451-36923451	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037A>G; p.Y346C; 9:36846905-36846905	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1063A>T; p.N355Y; 9:36846879-36846879	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.605-?_780+?del; p.?; 9:36966549-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_780+?del; p.?; 9:36966549-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.365G>A; p.R122Q; 9:37015042-37015042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1088C>T; p.P363L; 9:36846854-36846854	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.47-?_910+?del; p.?; 9:36923355-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_410+?del; p.?; 9:37014997-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.270C>T; p.V90V; 9:37015137-37015137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.47-?_410+?del; p.?; 9:37014997-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.396C>A; p.V132V; 9:37015011-37015011	NS	NS	Substitution - coding silent
c.590G>A; p.R197H; 9:37002662-37002662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.902T>C; p.I301T; 9:36923363-36923363	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.590G>A; p.R197H; 9:37002662-37002662	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.76delG; p.V26fs*3; 9:37020772-37020772	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.936_937CC>TT; p.L312>?; 9:36882079-36882080	skin; extremity	malignant_melanoma	Complex
c.963_964insC; p.A322fs*19; 9:36882052-36882053	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.963_964insC; p.A322fs*19; 9:36882052-36882053	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.149G>T; p.R50M; 9:37020699-37020699	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.963_964insC; p.A322fs*19; 9:36882052-36882053	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.963_964insC; p.A322fs*19; 9:36882052-36882053	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.963_964insC; p.A322fs*19; 9:36882052-36882053	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_780+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_1012+?del; p.?; 9:36882004-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.645G>C; p.P215P; 9:36966684-36966684	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.55G>T; p.G19*; 9:37020793-37020793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.600_601insTTGGGCGTCG; p.E201fs*45; 9:37002651-37002652	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.47-?_1176+?del; p.?; 9:36840560-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1059G>A; p.S353S; 9:36846883-36846883	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.410+2T>G; p.?; 9:37014995-37014995	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.215A>G; p.Y72C; 9:37015192-37015192	breast	carcinoma	Substitution - Missense
c.471C>G; p.S157R; 9:37006477-37006477	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.679G>A; p.D227N; 9:36966650-36966650	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1-?_910+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_910+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_910+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.940G>T; p.G314W; 9:36882076-36882076	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.68T>C; p.L23P; 9:37020780-37020780	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.997delA; p.T333fs*>59; 9:36882019-36882019	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.54A>G; p.G18G; 9:37020794-37020794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.438A>C; p.P146P; 9:37006510-37006510	breast	carcinoma	Substitution - coding silent
c.559A>G; p.I187V; 9:37002693-37002693	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1013-1G>A; p.?; 9:36846930-36846930	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.870G>T; p.G290G; 9:36923395-36923395	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.490G>A; p.V164M; 9:37002762-37002762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.577G>A; p.D193N; 9:37002675-37002675	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.373_374insTG; p.D125fs*35; 9:37015033-37015034	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.631_631G>TGTCACTAC; p.G211fs*70; 9:36966698-36966698	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - frameshift
c.240T>C; p.P80P; 9:37015167-37015167	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.240T>C; p.P80P; 9:37015167-37015167	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.469A>G; p.S157G; 9:37006479-37006479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1-?_410+?del; p.?; 9:37014997-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.811G>A; p.A271T; 9:36923454-36923454	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.952C>A; p.H318N; 9:36882064-36882064	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.47-?_475+?del; p.?; 9:37006473-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1057T>A; p.S353T; 9:36846885-36846885	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1-?_604+?del; p.?; 9:37002648-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_1012+?del; p.?; 9:36882004-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.730C>T; p.Q244*; 9:36966599-36966599	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.605-?_1176+?del; p.?; 9:36840560-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_1176+?del; p.?; 9:36840560-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.605-?_1176+?del; p.?; 9:36840560-36966724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.377_388>GGG; p.N126_P130>RA; 9:37015019-37015030	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - deletion inframe
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.411-?_604+?del; p.?; 9:37002648-37006537	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.47-?_604+?del; p.?; 9:37002648-37020801	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.76_77insG; p.V26fs*49; 9:37020771-37020772	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.411-?_604+?del; p.?; 9:37002648-37006537	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.412_413insG; p.I138fs*105; 9:37006535-37006536	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.534G>A; p.S178S; 9:37002718-37002718	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1080C>T; p.F360F; 9:36846862-36846862	skin	malignant_melanoma	Substitution - coding silent
c.70G>C; p.G24R; 9:37020778-37020778	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.841C>G; p.L281V; 9:36923424-36923424	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.70G>C; p.G24R; 9:37020778-37020778	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.70G>C; p.G24R; 9:37020778-37020778	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.959C>T; p.P320L; 9:36882057-36882057	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.963delC; p.A322fs*11; 9:36882053-36882053	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.963delC; p.A322fs*11; 9:36882053-36882053	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.85A>C; p.N29H; 9:37020763-37020763	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.928A>G; p.T310A; 9:36882088-36882088	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.G226E; 9:36966652-36966652	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12G>T; p.E4D; 9:37034020-37034020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.653A>G; p.D218G; 9:36966676-36966676	skin	malignant_melanoma	Substitution - Missense
c.88G>T; p.G30*; 9:37020760-37020760	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.887C>T; p.P296L; 9:36923378-36923378	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.19T>C; p.Y7H; 9:37034013-37034013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1089G>A; p.P363P; 9:36846853-36846853	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.673C>T; p.R225W; 9:36966656-36966656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.673C>T; p.R225W; 9:36966656-36966656	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1038C>T; p.Y346Y; 9:36846904-36846904	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1036T>C; p.Y346H; 9:36846906-36846906	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.55G>A; p.G19R; 9:37020793-37020793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.385G>A; p.V129M; 9:37015022-37015022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.911-?_1099+?del; p.?; 9:36846843-36882105	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.77T>G; p.V26G; 9:37020771-37020771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	oesophagus	carcinoma	Substitution - Missense
c.936C>T; p.L312L; 9:36882080-36882080	skin	malignant_melanoma	Substitution - coding silent
c.77T>G; p.V26G; 9:37020771-37020771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1019_1020insCCCGGGGG; p.E340fs*56; 9:36846922-36846923	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - Frameshift
c.77T>G; p.V26G; 9:37020771-37020771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.77T>G; p.V26G; 9:37020771-37020771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.601_602insGAAGGGGG; p.E201fs*80; 9:37002650-37002651	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.815G>A; p.G272D; 9:36923450-36923450	breast	carcinoma	Substitution - Missense
c.669G>T; p.Q223H; 9:36966660-36966660	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.476-?_1099+?del; p.?; 9:36846843-37002776	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.911-?_1012+?del; p.?; 9:36882004-36882105	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.350G>T; p.R117L; 9:37015057-37015057	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.291A>T; p.E97D; 9:37015116-37015116	skin	malignant_melanoma	Substitution - Missense
c.1012G>T; p.G338W; 9:36882004-36882004	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.91C>T; p.R31W; 9:37020757-37020757	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>A; p.V151I; 9:37006497-37006497	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.91C>T; p.R31W; 9:37020757-37020757	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1006_1007insCTTATGGT; p.V336fs*>59; 9:36882009-36882010	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.1-?_780+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1-?_780+?del; p.?; 9:36966549-37034031	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.407A>G; p.N136S; 9:37015000-37015000	liver	carcinoma	Substitution - Missense
c.627G>A; p.P209P; 9:36966702-36966702	lung	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation