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	55102
Symbol	ATG2B
Synonymous	C14orf103
Full name	autophagy related 2B
Gene description	ATG2 autophagy related 2 homolog B\|autophagy-related protein 2 homolog B
Cytoband	14q32.2
Gene type	protein-coding
Synonymous	MIM:616226; HGNC:HGNC:20187; Ensembl:ENSG00000066739; HPRD:12626; Vega:OTTHUMG00000149933

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.5857G>A; p.A1953T; 14:96289805-96289805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5545G>A; p.E1849K; 14:96291634-96291634	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2941A>C; p.N981H; 14:96317794-96317794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4198G>A; p.V1400I; 14:96309558-96309558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5256G>C; p.L1752F; 14:96295130-96295130	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5910G>A; p.E1970E; 14:96289752-96289752	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4985T>G; p.F1662C; 14:96303113-96303113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4315G>A; p.E1439K; 14:96306905-96306905	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4701A>G; p.I1567M; 14:96305621-96305621	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5792C>A; p.S1931Y; 14:96290500-96290500	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4652A>C; p.K1551T; 14:96305670-96305670	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2435T>C; p.I812T; 14:96325651-96325651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5177T>A; p.L1726H; 14:96295523-96295523	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1561A>G; p.I521V; 14:96331545-96331545	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3790A>G; p.T1264A; 14:96313117-96313117	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4006G>C; p.E1336Q; 14:96311272-96311272	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.132G>A; p.G44G; 14:96362845-96362845	liver	carcinoma	Substitution - coding silent
c.6220C>T; p.R2074C; 14:96285772-96285772	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2441C>T; p.S814L; 14:96323995-96323995	skin	malignant_melanoma	Substitution - Missense
c.3955A>G; p.I1319V; 14:96311577-96311577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2441C>T; p.S814L; 14:96323995-96323995	skin	malignant_melanoma	Substitution - Missense
c.888C>T; p.L296L; 14:96341558-96341558	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2441C>T; p.S814L; 14:96323995-96323995	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4147C>G; p.Q1383E; 14:96311131-96311131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4147C>G; p.Q1383E; 14:96311131-96311131	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.5306C>A; p.S1769Y; 14:96295080-96295080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6180A>T; p.Q2060H; 14:96285812-96285812	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2552A>G; p.K851R; 14:96322724-96322724	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.900G>A; p.Q300Q; 14:96341546-96341546	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.326-1G>T; p.?; 14:96345386-96345386	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.882G>A; p.L294L; 14:96341564-96341564	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.882G>A; p.L294L; 14:96341564-96341564	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2883C>A; p.I961I; 14:96317852-96317852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1221C>T; p.F407F; 14:96332642-96332642	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5932C>G; p.P1978A; 14:96289730-96289730	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3922C>T; p.R1308C; 14:96311610-96311610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1994G>T; p.S665I; 14:96328516-96328516	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2516C>T; p.S839L; 14:96323920-96323920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2516C>T; p.S839L; 14:96323920-96323920	skin	malignant_melanoma	Substitution - Missense
c.4957C>T; p.R1653C; 14:96303141-96303141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1405C>G; p.Q469E; 14:96332368-96332368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2352C>T; p.F784F; 14:96325734-96325734	skin	malignant_melanoma	Substitution - coding silent
c.4744A>C; p.S1582R; 14:96304593-96304593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1811T>G; p.I604S; 14:96329554-96329554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2461G>A; p.D821N; 14:96323975-96323975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5907C>T; p.I1969I; 14:96289755-96289755	skin	malignant_melanoma	Substitution - coding silent
c.1194A>C; p.T398T; 14:96333701-96333701	breast	carcinoma	Substitution - coding silent
c.3736G>T; p.A1246S; 14:96313342-96313342	breast	carcinoma	Substitution - Missense
c.6037G>A; p.E2013K; 14:96285955-96285955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3766A>G; p.I1256V; 14:96313141-96313141	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.887T>A; p.L296H; 14:96341559-96341559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3770G>T; p.R1257L; 14:96313137-96313137	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4778G>A; p.R1593H; 14:96304559-96304559	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4951C>T; p.R1651*; 14:96303147-96303147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1603C>T; p.P535S; 14:96331503-96331503	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3100C>A; p.R1034S; 14:96317255-96317255	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4951C>T; p.R1651*; 14:96303147-96303147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4951C>T; p.R1651*; 14:96303147-96303147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3363C>T; p.G1121G; 14:96315582-96315582	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.393T>C; p.C131C; 14:96345318-96345318	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2575T>A; p.S859T; 14:96322701-96322701	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2439A>T; p.G813G; 14:96323997-96323997	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4396G>A; p.G1466S; 14:96306824-96306824	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4639C>T; p.R1547C; 14:96305683-96305683	skin	malignant_melanoma	Substitution - Missense
c.2710C>T; p.R904C; 14:96322566-96322566	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1404A>C; p.E468D; 14:96332369-96332369	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5691A>G; p.L1897L; 14:96290824-96290824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1691G>T; p.R564L; 14:96331415-96331415	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5344T>C; p.S1782P; 14:96295042-96295042	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3927G>T; p.V1309V; 14:96311605-96311605	breast	carcinoma	Substitution - coding silent
c.3021_3022insA; p.S1008fs*6; 14:96317713-96317714	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5577T>C; p.H1859H; 14:96291602-96291602	central_nervous_system; brain	glioma	Substitution - coding silent
c.3124G>A; p.D1042N; 14:96317231-96317231	skin	malignant_melanoma	Substitution - Missense
c.1525C>A; p.L509I; 14:96331581-96331581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5121C>T; p.L1707L; 14:96302025-96302025	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.111G>A; p.L37L; 14:96362866-96362866	kidney	other; neoplasm	Substitution - coding silent
c.5783G>A; p.G1928D; 14:96290509-96290509	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.5821C>G; p.L1941V; 14:96290471-96290471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.191A>G; p.D64G; 14:96347313-96347313	liver	carcinoma	Substitution - Missense
c.3122T>C; p.L1041S; 14:96317233-96317233	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2766G>C; p.M922I; 14:96322225-96322225	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3857A>G; p.E1286G; 14:96312145-96312145	liver	carcinoma	Substitution - Missense
c.5947G>A; p.A1983T; 14:96289715-96289715	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1429C>A; p.P477T; 14:96332344-96332344	skin	malignant_melanoma	Substitution - Missense
c.2509A>G; p.T837A; 14:96323927-96323927	liver	carcinoma	Substitution - Missense
c.5100G>T; p.L1700F; 14:96302046-96302046	kidney	other; neoplasm	Substitution - Missense
c.2285G>A; p.R762Q; 14:96325801-96325801	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4390G>T; p.E1464*; 14:96306830-96306830	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.4564G>C; p.D1522H; 14:96305758-96305758	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4175G>T; p.G1392V; 14:96309581-96309581	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6031A>G; p.I2011V; 14:96285961-96285961	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1691G>A; p.R564Q; 14:96331415-96331415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4843-1G>T; p.?; 14:96303256-96303256	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1594A>G; p.N532D; 14:96331512-96331512	breast	carcinoma	Substitution - Missense
c.3769C>T; p.R1257*; 14:96313138-96313138	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6225C>T; p.H2075H; 14:96285767-96285767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1360G>A; p.V454M; 14:96332503-96332503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.506T>G; p.I169R; 14:96344729-96344729	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.766C>T; p.P256S; 14:96341680-96341680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3333T>A; p.H1111Q; 14:96316561-96316561	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4023C>T; p.S1341S; 14:96311255-96311255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4796delG; p.G1599fs*9; 14:96304541-96304541	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.311C>T; p.P104L; 14:96347193-96347193	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2092C>T; p.P698S; 14:96328418-96328418	thyroid	carcinoma	Substitution - Missense
c.937G>C; p.G313R; 14:96334489-96334489	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4065G>A; p.A1355A; 14:96311213-96311213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1980T>C; p.N660N; 14:96328530-96328530	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4663C>A; p.L1555I; 14:96305659-96305659	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120delA; p.K1040fs*2; 14:96317235-96317235	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2711G>A; p.R904H; 14:96322565-96322565	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2067G>T; p.V689V; 14:96328443-96328443	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1593G>T; p.Q531H; 14:96331513-96331513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6190G>C; p.D2064H; 14:96285802-96285802	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5758C>T; p.R1920C; 14:96290534-96290534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.130G>C; p.G44R; 14:96362847-96362847	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2310G>C; p.W770C; 14:96325776-96325776	breast	carcinoma	Substitution - Missense
c.5030C>T; p.S1677F; 14:96303068-96303068	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1224C>A; p.F408L; 14:96332639-96332639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1339G>A; p.G447R; 14:96332524-96332524	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5030C>T; p.S1677F; 14:96303068-96303068	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3479C>A; p.S1160*; 14:96315466-96315466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5758C>T; p.R1920C; 14:96290534-96290534	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5030C>T; p.S1677F; 14:96303068-96303068	urinary_tract; bladder	carcinoma	Substitution - Missense
c.341C>T; p.P114L; 14:96345370-96345370	skin	malignant_melanoma	Substitution - Missense
c.925-9delT; p.?; 14:96334510-96334510	liver	carcinoma	Unknown
c.5363G>T; p.G1788V; 14:96295023-96295023	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2428G>T; p.E810*; 14:96325658-96325658	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2287T>C; p.S763P; 14:96325799-96325799	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2937C>G; p.F979L; 14:96317798-96317798	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3923G>A; p.R1308H; 14:96311609-96311609	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1787G>A; p.R596Q; 14:96329578-96329578	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1066C>T; p.R356*; 14:96333829-96333829	skin	malignant_melanoma	Substitution - Nonsense
c.1140C>T; p.L380L; 14:96333755-96333755	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1975-2A>T; p.?; 14:96328537-96328537	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1476A>G; p.P492P; 14:96331630-96331630	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1070C>T; p.P357L; 14:96333825-96333825	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3919G>T; p.V1307F; 14:96311613-96311613	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3580G>A; p.G1194R; 14:96315216-96315216	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4888G>A; p.D1630N; 14:96303210-96303210	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5219-10A>T; p.?; 14:96295177-96295177	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.5219-10A>T; p.?; 14:96295177-96295177	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.630G>T; p.V210V; 14:96343233-96343233	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2425A>T; p.R809*; 14:96325661-96325661	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2425A>T; p.R809*; 14:96325661-96325661	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4369G>A; p.E1457K; 14:96306851-96306851	breast	carcinoma	Substitution - Missense
c.1678T>A; p.F560I; 14:96331428-96331428	skin	malignant_melanoma	Substitution - Missense
c.1186G>A; p.A396T; 14:96333709-96333709	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4977G>A; p.M1659I; 14:96303121-96303121	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4977G>A; p.M1659I; 14:96303121-96303121	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4977G>A; p.M1659I; 14:96303121-96303121	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.5399C>T; p.S1800F; 14:96294987-96294987	skin	malignant_melanoma	Substitution - Missense
c.3504_3505insTT; p.N1169fs*26; 14:96315440-96315441	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.2966C>T; p.S989L; 14:96317769-96317769	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4393T>C; p.S1465P; 14:96306827-96306827	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.6071T>G; p.V2024G; 14:96285921-96285921	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1809C>T; p.S603S; 14:96329556-96329556	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2288C>T; p.S763F; 14:96325798-96325798	skin	malignant_melanoma	Substitution - Missense
c.4843-9C>T; p.?; 14:96303264-96303264	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.4982A>C; p.K1661T; 14:96303116-96303116	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1468+2T>A; p.?; 14:96332303-96332303	stomach	carcinoma; adenocarcinoma	Unknown
c.3904C>T; p.L1302L; 14:96312098-96312098	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.3216T>C; p.D1072D; 14:96316678-96316678	liver	carcinoma	Substitution - coding silent
c.3216T>C; p.D1072D; 14:96316678-96316678	liver	carcinoma	Substitution - coding silent
c.2679A>G; p.L893L; 14:96322597-96322597	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2737-4_2737-3insTT; p.?; 14:96322257-96322258	ovary	carcinoma; serous_carcinoma	Unknown
c.6098G>T; p.R2033L; 14:96285894-96285894	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5280G>A; p.K1760K; 14:96295106-96295106	skin	malignant_melanoma	Substitution - coding silent
c.384A>G; p.A128A; 14:96345327-96345327	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4938G>T; p.Q1646H; 14:96303160-96303160	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6049C>T; p.R2017*; 14:96285943-96285943	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4193G>C; p.G1398A; 14:96309563-96309563	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5128A>T; p.N1710Y; 14:96302018-96302018	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4121A>C; p.K1374T; 14:96311157-96311157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3273T>C; p.G1091G; 14:96316621-96316621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4227A>G; p.L1409L; 14:96309529-96309529	skin	malignant_melanoma	Substitution - coding silent
c.2737-3_2737-2insTT; p.?; 14:96322256-96322256	ovary	carcinoma; serous_carcinoma	Unknown
c.2737-3_2737-2insTT; p.?; 14:96322256-96322256	ovary	carcinoma; serous_carcinoma	Unknown
c.5886G>A; p.V1962V; 14:96289776-96289776	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4353C>G; p.L1451L; 14:96306867-96306867	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5291T>G; p.L1764R; 14:96295095-96295095	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3842+1G>A; p.?; 14:96313064-96313064	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.4977G>T; p.M1659I; 14:96303121-96303121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5144C>T; p.A1715V; 14:96295556-96295556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.832G>C; p.A278P; 14:96341614-96341614	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.233C>T; p.S78F; 14:96347271-96347271	skin	malignant_melanoma	Substitution - Missense
c.2559T>A; p.N853K; 14:96322717-96322717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2593G>T; p.A865S; 14:96322683-96322683	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.233C>T; p.S78F; 14:96347271-96347271	skin	malignant_melanoma	Substitution - Missense
c.233C>T; p.S78F; 14:96347271-96347271	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4671G>A; p.W1557*; 14:96305651-96305651	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5866G>A; p.E1956K; 14:96289796-96289796	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.741A>C; p.P247P; 14:96343122-96343122	breast	carcinoma	Substitution - coding silent
c.6145G>A; p.A2049T; 14:96285847-96285847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3058G>A; p.E1020K; 14:96317297-96317297	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3724C>T; p.L1242F; 14:96313354-96313354	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4356C>T; p.F1452F; 14:96306864-96306864	skin	malignant_melanoma	Substitution - coding silent
c.4986T>G; p.F1662L; 14:96303112-96303112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1845A>G; p.P615P; 14:96329520-96329520	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1845A>G; p.P615P; 14:96329520-96329520	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1845A>G; p.P615P; 14:96329520-96329520	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2252A>G; p.N751S; 14:96325834-96325834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1845A>G; p.P615P; 14:96329520-96329520	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5166C>G; p.F1722L; 14:96295534-96295534	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1007C>A; p.A336D; 14:96334419-96334419	oesophagus	carcinoma	Substitution - Missense
c.1355C>T; p.A452V; 14:96332508-96332508	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3654C>A; p.F1218L; 14:96313424-96313424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4635G>A; p.V1545V; 14:96305687-96305687	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2647G>T; p.G883C; 14:96322629-96322629	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4987T>G; p.L1663V; 14:96303111-96303111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5869A>G; p.T1957A; 14:96289793-96289793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3064A>T; p.T1022S; 14:96317291-96317291	breast	carcinoma	Substitution - Missense
c.5309G>T; p.G1770V; 14:96295077-96295077	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3617C>T; p.P1206L; 14:96315179-96315179	skin	malignant_melanoma	Substitution - Missense
c.290G>A; p.G97E; 14:96347214-96347214	breast	carcinoma	Substitution - Missense
c.3161T>G; p.V1054G; 14:96317194-96317194	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3398G>A; p.R1133Q; 14:96315547-96315547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.234C>T; p.S78S; 14:96347270-96347270	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3412A>G; p.T1138A; 14:96315533-96315533	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.234C>T; p.S78S; 14:96347270-96347270	skin	malignant_melanoma	Substitution - coding silent
c.2601A>C; p.E867D; 14:96322675-96322675	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.582-7A>T; p.?; 14:96343288-96343288	stomach	adenocarcinoma	Unknown
c.5919G>T; p.K1973N; 14:96289743-96289743	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3226C>T; p.L1076L; 14:96316668-96316668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4231G>A; p.D1411N; 14:96309525-96309525	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.936T>C; p.D312D; 14:96334490-96334490	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1094G>A; p.R365Q; 14:96333801-96333801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3154C>A; p.L1052I; 14:96317201-96317201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1094G>A; p.R365Q; 14:96333801-96333801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3154C>A; p.L1052I; 14:96317201-96317201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.639C>T; p.P213P; 14:96343224-96343224	breast	carcinoma	Substitution - coding silent
c.5427-1G>C; p.?; 14:96292099-96292099	urinary_tract; bladder	carcinoma	Unknown
c.1284C>T; p.P428P; 14:96332579-96332579	skin; upper_back	malignant_melanoma	Substitution - coding silent
c.5950C>G; p.H1984D; 14:96289712-96289712	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6150G>A; p.T2050T; 14:96285842-96285842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5463T>G; p.L1821L; 14:96292062-96292062	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5427-1G>C; p.?; 14:96292099-96292099	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.2413G>C; p.E805Q; 14:96325673-96325673	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5427-1G>C; p.?; 14:96292099-96292099	urinary_tract; bladder	carcinoma	Unknown
c.2617G>A; p.D873N; 14:96322659-96322659	breast	carcinoma	Substitution - Missense
c.3415C>A; p.R1139S; 14:96315530-96315530	skin	malignant_melanoma	Substitution - Missense
c.4024G>A; p.D1342N; 14:96311254-96311254	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.12G>A; p.P4P; 14:96362965-96362965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5452C>T; p.P1818S; 14:96292073-96292073	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5591T>C; p.V1864A; 14:96290924-96290924	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5941C>G; p.R1981G; 14:96289721-96289721	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1213G>T; p.E405*; 14:96332650-96332650	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1004C>T; p.A335V; 14:96334422-96334422	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4775G>A; p.G1592E; 14:96304562-96304562	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6173G>T; p.R2058I; 14:96285819-96285819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2265C>A; p.R755R; 14:96325821-96325821	liver	carcinoma	Substitution - coding silent
c.2790C>T; p.I930I; 14:96322201-96322201	skin	malignant_melanoma	Substitution - coding silent
c.2974A>C; p.S992R; 14:96317761-96317761	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2265C>A; p.R755R; 14:96325821-96325821	liver	carcinoma	Substitution - coding silent
c.1893C>T; p.F631F; 14:96328755-96328755	skin	malignant_melanoma	Substitution - coding silent
c.2265C>A; p.R755R; 14:96325821-96325821	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1238T>C; p.M413T; 14:96332625-96332625	central_nervous_system; brain	glioma	Substitution - Missense
c.5839A>G; p.M1947V; 14:96290453-96290453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6043G>A; p.A2015T; 14:96285949-96285949	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2454G>T; p.E818D; 14:96323982-96323982	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3973G>A; p.D1325N; 14:96311559-96311559	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1054G>A; p.D352N; 14:96333841-96333841	skin	malignant_melanoma	Substitution - Missense
c.5246C>T; p.T1749I; 14:96295140-96295140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2263C>T; p.R755C; 14:96325823-96325823	skin	malignant_melanoma	Substitution - Missense
c.1576C>G; p.P526A; 14:96331530-96331530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.754C>T; p.P252S; 14:96341692-96341692	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.925-9T>C; p.?; 14:96334510-96334510	liver	carcinoma	Unknown
c.925-9T>C; p.?; 14:96334510-96334510	liver	carcinoma	Unknown
c.1307C>A; p.S436*; 14:96332556-96332556	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4085A>G; p.Y1362C; 14:96311193-96311193	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3840C>G; p.L1280L; 14:96313067-96313067	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2390C>T; p.S797L; 14:96325696-96325696	skin	malignant_melanoma	Substitution - Missense
c.4136C>T; p.P1379L; 14:96311142-96311142	skin	malignant_melanoma	Substitution - Missense
c.5166C>A; p.F1722L; 14:96295534-96295534	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4608A>T; p.K1536N; 14:96305714-96305714	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3423C>G; p.H1141Q; 14:96315522-96315522	skin	malignant_melanoma	Substitution - Missense
c.572G>A; p.R191Q; 14:96344663-96344663	skin	malignant_melanoma	Substitution - Missense
c.1234G>A; p.D412N; 14:96332629-96332629	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4797A>G; p.G1599G; 14:96304540-96304540	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4797A>G; p.G1599G; 14:96304540-96304540	pancreas	carcinoma	Substitution - coding silent
c.1089G>A; p.E363E; 14:96333806-96333806	skin	malignant_melanoma	Substitution - coding silent
c.3191C>A; p.A1064E; 14:96317164-96317164	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5951A>C; p.H1984P; 14:96289711-96289711	liver	carcinoma	Substitution - Missense
c.5572C>T; p.R1858*; 14:96291607-96291607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4705C>T; p.P1569S; 14:96305617-96305617	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5572C>T; p.R1858*; 14:96291607-96291607	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3281T>G; p.F1094C; 14:96316613-96316613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5261G>T; p.R1754M; 14:96295125-96295125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5424delT; p.F1808fs*28; 14:96294962-96294962	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5424delT; p.F1808fs*28; 14:96294962-96294962	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5424delT; p.F1808fs*28; 14:96294962-96294962	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5424delT; p.F1808fs*28; 14:96294962-96294962	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5424delT; p.F1808fs*28; 14:96294962-96294962	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6050G>A; p.R2017Q; 14:96285942-96285942	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.6050G>A; p.R2017Q; 14:96285942-96285942	large_intestine; colon	carcinoma	Substitution - Missense
c.4229G>A; p.R1410Q; 14:96309527-96309527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.696G>T; p.E232D; 14:96343167-96343167	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6050G>A; p.R2017Q; 14:96285942-96285942	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5759G>A; p.R1920H; 14:96290533-96290533	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2884T>G; p.F962V; 14:96317851-96317851	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2971G>C; p.A991P; 14:96317764-96317764	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2517G>A; p.S839S; 14:96323919-96323919	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6106C>T; p.P2036S; 14:96285886-96285886	skin	malignant_melanoma	Substitution - Missense
c.4536C>T; p.I1512I; 14:96305786-96305786	skin	malignant_melanoma	Substitution - coding silent
c.3775C>T; p.L1259F; 14:96313132-96313132	skin	malignant_melanoma	Substitution - Missense
c.1434C>T; p.S478S; 14:96332339-96332339	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5604C>G; p.F1868L; 14:96290911-96290911	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4210G>A; p.A1404T; 14:96309546-96309546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3562G>T; p.E1188*; 14:96315234-96315234	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation