Entrez Gene

Basic Information
Gene ID	3091
Name	HIF1A
Synonymous	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor);HIF1A;hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
Definition	ARNT interacting protein\|ARNT-interacting protein\|HIF-1-alpha\|PAS domain-containing protein 8\|basic-helix-loop-helix-PAS protein MOP1\|class E basic helix-loop-helix protein 78\|hypoxia-inducible factor 1 alpha isoform I.3\|hypoxia-inducible factor 1, alpha
Position	14q23.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.984G>A; p.K328K; 14:61734241-61734241	skin	malignant_melanoma	Substitution - coding silent
c.2382G>A; p.Q794Q; 14:61746986-61746986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.40A>C; p.S14R; 14:61720386-61720386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.359T>C; p.M120T; 14:61721641-61721641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1458A>G; p.E486E; 14:61738295-61738295	liver	carcinoma	Substitution - coding silent
c.2188C>T; p.Q730*; 14:61744799-61744799	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.917G>T; p.R306M; 14:61734174-61734174	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2252C>T; p.S751F; 14:61745740-61745740	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1892G>A; p.R631H; 14:61740987-61740987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1483C>A; p.Q495K; 14:61738320-61738320	skin	malignant_melanoma	Substitution - Missense
c.2228A>C; p.D743A; 14:61745716-61745716	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.65C>A; p.S22Y; 14:61720411-61720411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2424C>T; p.G808G; 14:61747028-61747028	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1031G>A; p.G344D; 14:61736891-61736891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2261G>A; p.R754H; 14:61745749-61745749	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2322A>G; p.I774M; 14:61745810-61745810	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1626A>G; p.E542E; 14:61740594-61740594	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1914G>A; p.L638L; 14:61741009-61741009	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1825G>T; p.E609*; 14:61740920-61740920	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1641G>T; p.K547N; 14:61740609-61740609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1641G>T; p.K547N; 14:61740609-61740609	breast	carcinoma	Substitution - Missense
c.1825G>T; p.E609*; 14:61740920-61740920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.984G>T; p.K328N; 14:61734241-61734241	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1327T>A; p.L443I; 14:61738164-61738164	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1762G>C; p.A588P; 14:61740857-61740857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.525A>G; p.L175L; 14:61726773-61726773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.58G>T; p.E20*; 14:61720404-61720404	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.513G>T; p.M171I; 14:61726761-61726761	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1790G>A; p.S597N; 14:61740885-61740885	skin	malignant_melanoma	Substitution - Missense
c.2091A>G; p.Q697Q; 14:61741186-61741186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2094-1G>C; p.?; 14:61744704-61744704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.875A>G; p.H292R; 14:61732519-61732519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.881-9delC; p.?; 14:61734129-61734129	stomach	adenocarcinoma	Unknown
c.1430A>C; p.K477T; 14:61738267-61738267	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.373-5delTACAGTTTGAACTAACTGGA; p.?; 14:61721734-61721753	kidney	carcinoma	Unknown
c.1762G>A; p.A588T; 14:61740857-61740857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1762G>A; p.A588T; 14:61740857-61740857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1135G>A; p.E379K; 14:61736995-61736995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1172A>G; p.K391R; 14:61737032-61737032	thyroid	carcinoma	Substitution - Missense
c.177G>A; p.V59V; 14:61720523-61720523	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2068G>A; p.V690M; 14:61741163-61741163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2068G>A; p.V690M; 14:61741163-61741163	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2068G>A; p.V690M; 14:61741163-61741163	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1299T>G; p.D433E; 14:61738136-61738136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.308T>C; p.L103P; 14:61721590-61721590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1680G>T; p.E560D; 14:61740775-61740775	breast	carcinoma	Substitution - Missense
c.2113G>T; p.E705*; 14:61744724-61744724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1732G>A; p.D578N; 14:61740827-61740827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.120T>C; p.L40L; 14:61720466-61720466	breast	carcinoma	Substitution - coding silent
c.2311A>C; p.I771L; 14:61745799-61745799	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1005T>C; p.I335I; 14:61734262-61734262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1213G>A; p.G405R; 14:61737073-61737073	pancreas	carcinoma	Substitution - Missense
c.1548C>A; p.P516P; 14:61740516-61740516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2238T>G; p.A746A; 14:61745726-61745726	pancreas	carcinoma	Substitution - coding silent
c.1918G>C; p.A640P; 14:61741013-61741013	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1659G>C; p.Q553H; 14:61740627-61740627	ovary	other; neoplasm	Substitution - Missense
c.541A>C; p.T181P; 14:61726789-61726789	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2163A>C; p.K721N; 14:61744774-61744774	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.160C>A; p.L54I; 14:61720506-61720506	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2407A>G; p.N803D; 14:61747011-61747011	pancreas	carcinoma	Substitution - Missense
c.1021G>A; p.V341I; 14:61734278-61734278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.55A>C; p.K19Q; 14:61720401-61720401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.773+8A>T; p.?; 14:61727663-61727663	liver	carcinoma	Unknown
c.2384_2393del10; p.T796fs*>28; 14:61746988-61746997	pancreas	carcinoma	Deletion - Frameshift
c.785T>C; p.L262S; 14:61732429-61732429	skin	malignant_melanoma	Substitution - Missense
c.2384_2393del10; p.T796fs*>28; 14:61746988-61746997	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1468A>G; p.T490A; 14:61738305-61738305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1321G>A; p.E441K; 14:61738158-61738158	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.53G>A; p.R18Q; 14:61720399-61720399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.53G>A; p.R18Q; 14:61720399-61720399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49C>G; p.R17G; 14:61720395-61720395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.124C>T; p.H42Y; 14:61720470-61720470	breast	carcinoma	Substitution - Missense
c.197A>G; p.Y66C; 14:61720543-61720543	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1013T>C; p.V338A; 14:61734270-61734270	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1908A>C; p.K636N; 14:61741003-61741003	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.496A>C; p.S166R; 14:61726744-61726744	liver	carcinoma	Substitution - Missense
c.496A>C; p.S166R; 14:61726744-61726744	liver	carcinoma	Substitution - Missense
c.106_107insT; p.Y38fs*2; 14:61720452-61720453	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.67C>T; p.R23*; 14:61720413-61720413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2080G>A; p.A694T; 14:61741175-61741175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.417T>C; p.C139C; 14:61721783-61721783	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1938C>T; p.H646H; 14:61741033-61741033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1571A>G; p.D524G; 14:61740539-61740539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1996A>T; p.T666S; 14:61741091-61741091	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2067C>T; p.N689N; 14:61741162-61741162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1659+2T>C; p.?; 14:61740629-61740629	stomach	carcinoma; adenocarcinoma	Unknown
c.46G>T; p.E16*; 14:61720392-61720392	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.2180C>A; p.S727*; 14:61744791-61744791	kidney	carcinoma; renal_cell_carcinoma	Substitution - Nonsense
c.2180C>A; p.S727*; 14:61744791-61744791	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2369G>A; p.S790N; 14:61746973-61746973	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>A; p.S790N; 14:61746973-61746973	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1924C>T; p.P642S; 14:61741019-61741019	breast	carcinoma	Substitution - Missense
c.750G>C; p.M250I; 14:61727632-61727632	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.507C>G; p.L169L; 14:61726755-61726755	breast	carcinoma	Substitution - coding silent
c.734G>A; p.R245Q; 14:61727616-61727616	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.380T>A; p.L127Q; 14:61721746-61721746	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.958C>T; p.Q320*; 14:61734215-61734215	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.97G>T; p.E33*; 14:61720443-61720443	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1607T>C; p.V536A; 14:61740575-61740575	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1607T>C; p.V536A; 14:61740575-61740575	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>C; p.D283H; 14:61732491-61732491	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1141G>A; p.E381K; 14:61737001-61737001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.361G>T; p.G121*; 14:61721643-61721643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.89G>A; p.R30Q; 14:61720435-61720435	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1857C>T; p.A619A; 14:61740952-61740952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.89G>A; p.R30Q; 14:61720435-61720435	skin	malignant_melanoma	Substitution - Missense
c.1190T>G; p.L397*; 14:61737050-61737050	skin; subungual	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.2260C>T; p.R754C; 14:61745748-61745748	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1341T>A; p.N447K; 14:61738178-61738178	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1866T>A; p.D622E; 14:61740961-61740961	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.357C>A; p.Y119*; 14:61721639-61721639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1537-1G>A; p.?; 14:61740504-61740504	skin	malignant_melanoma	Unknown
c.173C>A; p.S58Y; 14:61720519-61720519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1657C>A; p.Q553K; 14:61740625-61740625	skin	malignant_melanoma	Substitution - Missense
c.1281A>C; p.E427D; 14:61738118-61738118	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2135C>A; p.A712D; 14:61744746-61744746	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1011T>A; p.C337*; 14:61734268-61734268	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1897G>A; p.E633K; 14:61740992-61740992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1268A>C; p.Q423P; 14:61738105-61738105	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.805G>T; p.E269*; 14:61732449-61732449	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.996A>G; p.P332P; 14:61734253-61734253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.805G>T; p.E269*; 14:61732449-61732449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.700G>A; p.E234K; 14:61727582-61727582	prostate	adenoma	Substitution - Missense
c.2089C>G; p.Q697E; 14:61741184-61741184	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2089C>G; p.Q697E; 14:61741184-61741184	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1470C>T; p.T490T; 14:61738307-61738307	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.984G>C; p.K328N; 14:61734241-61734241	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2438T>C; p.L813P; 14:61747042-61747042	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1506C>T; p.S502S; 14:61738343-61738343	skin	malignant_melanoma	Substitution - coding silent
c.2227G>A; p.D743N; 14:61745715-61745715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.821C>T; p.S274L; 14:61732465-61732465	pancreas	carcinoma	Substitution - Missense
c.1321G>T; p.E441*; 14:61738158-61738158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.446C>G; p.T149R; 14:61721812-61721812	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2384T>C; p.L795P; 14:61746988-61746988	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2120delA; p.N707fs*5; 14:61744731-61744731	kidney	carcinoma	Deletion - Frameshift
c.123T>G; p.A41A; 14:61720469-61720469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2179T>C; p.S727P; 14:61744790-61744790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1535A>T; p.E512V; 14:61738372-61738372	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2179T>C; p.S727P; 14:61744790-61744790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2043A>C; p.E681D; 14:61741138-61741138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2043A>T; p.E681D; 14:61741138-61741138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2423G>T; p.G808V; 14:61747027-61747027	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2423G>T; p.G808V; 14:61747027-61747027	pancreas	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]