Entrez Gene

Basic Information
Gene ID	1663
Name	DDX11
Synonymous	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11;DDX11;DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
Definition	CHL1-like helicase homolog\|CHL1-related helicase gene-1\|CHL1-related protein 1\|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)\|DEAD/H box protein 11\|KRG-2\|hCHLR1\|keratinocyte growth factor-regulated gene 2 prote
Position	12p11
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2708C>T; p.S903L; 12:31103823-31103823	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1387C>T; p.P463S; 12:31094607-31094607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2572G>A; p.V858I; 12:31103612-31103612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.437A>G; p.Q146R; 12:31084626-31084626	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.756C>T; p.G252G; 12:31089115-31089115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1102C>T; p.P368S; 12:31091731-31091731	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1198G>A; p.D400N; 12:31091827-31091827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>T; p.L385L; 12:31091782-31091782	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2121C>A; p.F707L; 12:31101901-31101901	breast	carcinoma	Substitution - Missense
c.483G>A; p.R161R; 12:31084971-31084971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1221C>A; p.S407R; 12:31091850-31091850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1221C>A; p.S407R; 12:31091850-31091850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>A; p.G510R; 12:31096643-31096643	skin	malignant_melanoma	Substitution - Missense
c.758A>T; p.K253M; 12:31089117-31089117	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2537-9C>G; p.?; 12:31103568-31103568	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1714G>T; p.A572S; 12:31096942-31096942	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.834_837delGCAG; p.Q279fs*55; 12:31089444-31089447	breast	carcinoma	Deletion - Frameshift
c.2053-6C>G; p.?; 12:31101827-31101827	stomach	carcinoma; adenocarcinoma	Unknown
c.1180G>T; p.E394*; 12:31091809-31091809	prostate	carcinoma	Substitution - Nonsense
c.788G>A; p.R263Q; 12:31089147-31089147	skin; extremity	malignant_melanoma	Substitution - Missense
c.788G>A; p.R263Q; 12:31089147-31089147	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.788G>A; p.R263Q; 12:31089147-31089147	thyroid	other; neoplasm	Substitution - Missense
c.2419G>C; p.E807Q; 12:31102982-31102982	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2411G>T; p.R804M; 12:31102974-31102974	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1840C>T; p.R614W; 12:31097962-31097962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.228C>T; p.L76L; 12:31083896-31083896	skin	malignant_melanoma	Substitution - coding silent
c.1233C>T; p.S411S; 12:31091862-31091862	central_nervous_system; brain	glioma	Substitution - coding silent
c.1594C>T; p.Q532*; 12:31096709-31096709	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.637A>G; p.R213G; 12:31085125-31085125	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.637A>G; p.R213G; 12:31085125-31085125	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1774C>G; p.Q592E; 12:31097896-31097896	NS	malignant_melanoma	Substitution - Missense
c.2235G>A; p.V745V; 12:31102275-31102275	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2235G>A; p.V745V; 12:31102275-31102275	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2494C>T; p.L832L; 12:31103353-31103353	skin	malignant_melanoma	Substitution - coding silent
c.2543C>T; p.A848V; 12:31103583-31103583	thyroid	other; neoplasm	Substitution - Missense
c.2543C>T; p.A848V; 12:31103583-31103583	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.749C>A; p.P250H; 12:31089108-31089108	skin	malignant_melanoma	Substitution - Missense
c.1067G>A; p.R356H; 12:31090072-31090072	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2253A>G; p.A751A; 12:31102293-31102293	thyroid	other; neoplasm	Substitution - coding silent
c.98T>G; p.V33G; 12:31078491-31078491	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.98T>G; p.V33G; 12:31078491-31078491	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.98T>G; p.V33G; 12:31078491-31078491	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2253A>G; p.A751A; 12:31102293-31102293	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185G>A; p.A395A; 12:31091814-31091814	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185G>A; p.A395A; 12:31091814-31091814	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1528G>T; p.G510*; 12:31096643-31096643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2104G>T; p.G702W; 12:31101884-31101884	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.386G>T; p.R129L; 12:31084054-31084054	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.95G>A; p.R32Q; 12:31078488-31078488	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2170G>T; p.G724C; 12:31101950-31101950	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2643T>C; p.R881R; 12:31103683-31103683	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1242+3G>T; p.?; 12:31091874-31091874	lung	carcinoma; small_cell_carcinoma	Unknown
c.930G>A; p.E310E; 12:31089935-31089935	breast	carcinoma	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	breast	carcinoma	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	breast	carcinoma	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	breast	carcinoma	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	breast	carcinoma	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_III	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.816G>A; p.V272V; 12:31089426-31089426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2019A>G; p.E673E; 12:31101097-31101097	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	breast	carcinoma	Substitution - coding silent
c.930G>A; p.E310E; 12:31089935-31089935	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.938C>T; p.A313V; 12:31089943-31089943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1287C>T; p.Y429Y; 12:31092890-31092890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.841A>T; p.I281F; 12:31089451-31089451	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.293G>T; p.C98F; 12:31083961-31083961	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.340G>A; p.V114I; 12:31084008-31084008	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1841G>A; p.R614Q; 12:31097963-31097963	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1243-1G>T; p.?; 12:31092845-31092845	lung	carcinoma; adenocarcinoma	Unknown
c.542G>A; p.G181D; 12:31085030-31085030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.877C>T; p.H293Y; 12:31089487-31089487	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1444C>T; p.L482F; 12:31094784-31094784	skin	malignant_melanoma	Substitution - Missense
c.766C>T; p.R256W; 12:31089125-31089125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1749C>T; p.I583I; 12:31096977-31096977	skin	malignant_melanoma	Substitution - coding silent
c.2303G>A; p.G768E; 12:31102458-31102458	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2372G>A; p.R791Q; 12:31102527-31102527	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1671G>A; p.L557L; 12:31096899-31096899	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1699C>G; p.Q567E; 12:31096927-31096927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1565G>A; p.R522Q; 12:31096680-31096680	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.R143C; 12:31084616-31084616	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1275C>T; p.Y425Y; 12:31092878-31092878	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1275C>T; p.Y425Y; 12:31092878-31092878	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1612C>T; p.Q538*; 12:31096727-31096727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.927G>A; p.Q309Q; 12:31089932-31089932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2695C>T; p.H899Y; 12:31103810-31103810	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1546G>A; p.G516R; 12:31096661-31096661	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>T; p.G404C; 12:31091839-31091839	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>T; p.G404C; 12:31091839-31091839	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.98T>C; p.V33A; 12:31078491-31078491	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.98T>C; p.V33A; 12:31078491-31078491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.98T>C; p.V33A; 12:31078491-31078491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1288G>A; p.G430R; 12:31092891-31092891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.209G>A; p.R70H; 12:31083877-31083877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.209G>A; p.R70H; 12:31083877-31083877	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.601G>A; p.E201K; 12:31085089-31085089	breast	carcinoma	Substitution - Missense
c.601G>A; p.E201K; 12:31085089-31085089	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2514G>T; p.M838I; 12:31103373-31103373	breast	carcinoma	Substitution - Missense
c.601G>A; p.E201K; 12:31085089-31085089	pleura	pulmonary_blastoma	Substitution - Missense
c.1825G>T; p.V609L; 12:31097947-31097947	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2065G>A; p.G689S; 12:31101845-31101845	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	breast	carcinoma	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.855T>C; p.C285C; 12:31089465-31089465	thyroid	other; neoplasm	Substitution - coding silent
c.1140C>T; p.A380A; 12:31091769-31091769	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2449C>T; p.Q817*; 12:31103012-31103012	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1142C>T; p.A381V; 12:31091771-31091771	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1142C>T; p.A381V; 12:31091771-31091771	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.506A>T; p.N169I; 12:31084994-31084994	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2222G>A; p.S741N; 12:31102262-31102262	skin	malignant_melanoma	Substitution - Missense
c.1197C>T; p.I399I; 12:31091826-31091826	skin	malignant_melanoma	Substitution - coding silent
c.183G>T; p.W61C; 12:31083851-31083851	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1489C>T; p.R497*; 12:31096347-31096347	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Nonsense
c.1482G>T; p.K494N; 12:31094822-31094822	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1489C>T; p.R497*; 12:31096347-31096347	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.2357C>T; p.S786F; 12:31102512-31102512	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1712C>A; p.A571E; 12:31096940-31096940	breast	carcinoma	Substitution - Missense
c.2567C>T; p.A856V; 12:31103607-31103607	pituitary; craniopharyngeal_duct	craniopharyngioma; papillary	Substitution - Missense
c.2272-1G>T; p.?; 12:31102426-31102426	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.547G>T; p.E183*; 12:31085035-31085035	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2410A>T; p.R804W; 12:31102973-31102973	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.818A>G; p.K273R; 12:31089428-31089428	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.818A>G; p.K273R; 12:31089428-31089428	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1826T>C; p.V609A; 12:31097948-31097948	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2370C>T; p.G790G; 12:31102525-31102525	skin	malignant_melanoma	Substitution - coding silent
c.705A>G; p.T235T; 12:31089064-31089064	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1673G>A; p.R558Q; 12:31096901-31096901	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1428G>A; p.K476K; 12:31094768-31094768	breast	carcinoma	Substitution - coding silent
c.607G>A; p.E203K; 12:31085095-31085095	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.556C>T; p.R186W; 12:31085044-31085044	urinary_tract; bladder	carcinoma	Substitution - Missense
c.814G>A; p.V272M; 12:31089424-31089424	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.556C>T; p.R186W; 12:31085044-31085044	thyroid	other; neoplasm	Substitution - Missense
c.556C>T; p.R186W; 12:31085044-31085044	pancreas	carcinoma	Substitution - Missense
c.814G>A; p.V272M; 12:31089424-31089424	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.556C>T; p.R186W; 12:31085044-31085044	thyroid	other; neoplasm	Substitution - Missense
c.814G>A; p.V272M; 12:31089424-31089424	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.556C>T; p.R186W; 12:31085044-31085044	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.556C>T; p.R186W; 12:31085044-31085044	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.556C>T; p.R186W; 12:31085044-31085044	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1601T>G; p.L534R; 12:31096716-31096716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.845A>G; p.N282S; 12:31089455-31089455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.556C>T; p.R186W; 12:31085044-31085044	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1560A>T; p.S520S; 12:31096675-31096675	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1819G>C; p.A607P; 12:31097941-31097941	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1819G>C; p.A607P; 12:31097941-31097941	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1819G>C; p.A607P; 12:31097941-31097941	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1242+4T>C; p.?; 12:31091875-31091875	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1819G>C; p.A607P; 12:31097941-31097941	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1819G>C; p.A607P; 12:31097941-31097941	breast	carcinoma	Substitution - Missense
c.1955T>C; p.V652A; 12:31101033-31101033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.780T>C; p.L260L; 12:31089139-31089139	thyroid	other; neoplasm	Substitution - coding silent
c.1124C>T; p.A375V; 12:31091753-31091753	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1545C>T; p.Y515Y; 12:31096660-31096660	prostate	carcinoma	Substitution - coding silent
c.1353C>T; p.F451F; 12:31093308-31093308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1353C>T; p.F451F; 12:31093308-31093308	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2183G>A; p.R728H; 12:31101963-31101963	breast	carcinoma	Substitution - Missense
c.2183G>A; p.R728H; 12:31101963-31101963	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1461C>T; p.I487I; 12:31094801-31094801	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1461C>T; p.I487I; 12:31094801-31094801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2182C>T; p.R728C; 12:31101962-31101962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1108C>T; p.Q370*; 12:31091737-31091737	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.922A>C; p.R308R; 12:31089927-31089927	breast	carcinoma	Substitution - coding silent
c.922A>C; p.R308R; 12:31089927-31089927	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.922A>C; p.R308R; 12:31089927-31089927	breast	carcinoma	Substitution - coding silent
c.922A>C; p.R308R; 12:31089927-31089927	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.922A>C; p.R308R; 12:31089927-31089927	breast	carcinoma	Substitution - coding silent
c.922A>C; p.R308R; 12:31089927-31089927	breast	carcinoma	Substitution - coding silent
c.922A>C; p.R308R; 12:31089927-31089927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.560T>C; p.L187P; 12:31085048-31085048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.287C>A; p.S96Y; 12:31083955-31083955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2181C>T; p.G727G; 12:31101961-31101961	skin	malignant_melanoma	Substitution - coding silent
c.1973delT; p.I658fs*27; 12:31101051-31101051	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1647A>G; p.A549A; 12:31096875-31096875	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2088C>T; p.C696C; 12:31101868-31101868	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2088C>T; p.C696C; 12:31101868-31101868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.186C>T; p.L62L; 12:31083854-31083854	skin	malignant_melanoma	Substitution - coding silent
c.145G>T; p.G49W; 12:31083813-31083813	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>A; p.E224K; 12:31087969-31087969	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2700G>A; p.R900R; 12:31103815-31103815	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1208C>T; p.T403M; 12:31091837-31091837	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1864A>C; p.T622P; 12:31097986-31097986	breast	carcinoma	Substitution - Missense
c.1192C>T; p.L398L; 12:31091821-31091821	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1955T>G; p.V652G; 12:31101033-31101033	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2238_2246delGCAGGTGCT; p.Q747_L749delQVL; 12:31102278-31102286	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - In frame
c.1542_1543GT>TA; p.Y515N; 12:31096657-31096658	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1422G>A; p.E474E; 12:31094762-31094762	breast	carcinoma	Substitution - coding silent
c.1490G>A; p.R497Q; 12:31096348-31096348	breast	carcinoma	Substitution - Missense
c.1490G>A; p.R497Q; 12:31096348-31096348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1295G>A; p.R432H; 12:31093250-31093250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	skin	malignant_melanoma	Substitution - Missense
c.2595T>C; p.Y865Y; 12:31103635-31103635	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.500G>C; p.R167T; 12:31084988-31084988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	skin	malignant_melanoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	urinary_tract; bladder	carcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	prostate	carcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	skin	malignant_melanoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	skin	malignant_melanoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	skin	malignant_melanoma	Substitution - Missense
c.500G>C; p.R167T; 12:31084988-31084988	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.923G>T; p.R308M; 12:31089928-31089928	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.367G>C; p.E123Q; 12:31084035-31084035	breast	carcinoma	Substitution - Missense
c.1132C>T; p.R378W; 12:31091761-31091761	liver	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]