Entrez Gene

Basic Information
Gene ID	7290
Name	HIRA
Synonymous	histone cell cycle regulator;HIRA;histone cell cycle regulator
Definition	DiGeorge critical region gene 1\|HIR histone cell cycle regulation defective homolog A\|TUP1-like enhancer of split protein 1\|protein HIRA
Position	22q11.21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1690G>A; p.A564T; 22:19375716-19375716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2071G>A; p.A691T; 22:19361251-19361251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1593C>T; p.G531G; 22:19377889-19377889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2034A>G; p.A678A; 22:19361288-19361288	breast	carcinoma	Substitution - coding silent
c.878C>A; p.P293H; 22:19392159-19392159	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2715C>T; p.S905S; 22:19353489-19353489	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2023_2026delTCTG; p.S675fs*6; 22:19361296-19361299	stomach	adenocarcinoma	Deletion - Frameshift
c.835A>C; p.K279Q; 22:19392202-19392202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.177T>A; p.I59I; 22:19408517-19408517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2226G>A; p.A742A; 22:19359344-19359344	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.494-1G>A; p.?; 22:19396948-19396948	urinary_tract; bladder	carcinoma	Unknown
c.760G>T; p.E254*; 22:19394404-19394404	breast	carcinoma	Substitution - Nonsense
c.307A>G; p.I103V; 22:19405876-19405876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1276G>T; p.A426S; 22:19385574-19385574	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1276G>T; p.A426S; 22:19385574-19385574	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1618A>G; p.N540D; 22:19375788-19375788	skin	malignant_melanoma	Substitution - Missense
c.1832G>A; p.S611N; 22:19361875-19361875	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.639C>G; p.T213T; 22:19396802-19396802	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1933C>T; p.R645W; 22:19361774-19361774	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.765G>A; p.R255R; 22:19394399-19394399	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2654C>T; p.P885L; 22:19354026-19354026	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2688G>A; p.S896S; 22:19353516-19353516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2163G>A; p.L721L; 22:19359407-19359407	breast	carcinoma	Substitution - coding silent
c.2144delG; p.G715fs*2; 22:19359426-19359426	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.709C>T; p.L237L; 22:19394455-19394455	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1691C>T; p.A564V; 22:19375715-19375715	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.359A>G; p.Q120R; 22:19405824-19405824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.570T>C; p.A190A; 22:19396871-19396871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2294G>A; p.R765H; 22:19356992-19356992	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1536C>T; p.F512F; 22:19377946-19377946	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2820C>T; p.L940L; 22:19353384-19353384	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.848delA; p.K283fs*34; 22:19392189-19392189	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2086-1G>T; p.?; 22:19359485-19359485	lung	carcinoma; adenocarcinoma	Unknown
c.1885C>T; p.R629*; 22:19361822-19361822	breast	carcinoma	Substitution - Nonsense
c.1961C>A; p.P654H; 22:19361746-19361746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1035A>G; p.V345V; 22:19387789-19387789	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2333C>G; p.S778C; 22:19356953-19356953	breast	carcinoma	Substitution - Missense
c.1811C>T; p.P604L; 22:19361896-19361896	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.820G>A; p.V274M; 22:19394344-19394344	prostate	adenoma	Substitution - Missense
c.1214A>C; p.Q405P; 22:19385636-19385636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1153A>G; p.I385V; 22:19385697-19385697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2111T>C; p.I704T; 22:19359459-19359459	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3020G>T; p.C1007F; 22:19331474-19331474	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1257G>A; p.A419A; 22:19385593-19385593	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.302C>T; p.T101M; 22:19407184-19407184	breast	carcinoma	Substitution - Missense
c.1468G>A; p.G490S; 22:19378014-19378014	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2800G>A; p.E934K; 22:19353404-19353404	skin	malignant_melanoma	Substitution - Missense
c.229C>T; p.R77W; 22:19407257-19407257	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.229C>T; p.R77W; 22:19407257-19407257	stomach	adenocarcinoma	Substitution - Missense
c.160G>A; p.E54K; 22:19408534-19408534	breast	carcinoma	Substitution - Missense
c.860A>G; p.N287S; 22:19392177-19392177	skin	malignant_melanoma	Substitution - Missense
c.1814G>A; p.R605Q; 22:19361893-19361893	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1374G>A; p.R458R; 22:19383661-19383661	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1814G>A; p.R605Q; 22:19361893-19361893	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1225C>T; p.Q409*; 22:19385625-19385625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1225C>T; p.Q409*; 22:19385625-19385625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1250G>C; p.S417T; 22:19385600-19385600	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1466C>T; p.A489V; 22:19378016-19378016	skin	malignant_melanoma	Substitution - Missense
c.2860C>T; p.R954*; 22:19351435-19351435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1456_1457GG>TT; p.G486F; 22:19378025-19378026	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.764G>A; p.R255Q; 22:19394400-19394400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.42G>A; p.K14K; 22:19410774-19410774	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.153G>T; p.E51D; 22:19408541-19408541	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.53C>T; p.S18L; 22:19410763-19410763	large_intestine; colon	carcinoma	Substitution - Missense
c.2739G>A; p.E913E; 22:19353465-19353465	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.989C>G; p.S330C; 22:19388502-19388502	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.113G>T; p.G38V; 22:19408581-19408581	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2264G>A; p.R755K; 22:19357022-19357022	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.396C>T; p.G132G; 22:19405787-19405787	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1358G>A; p.R453Q; 22:19383677-19383677	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1044G>T; p.M348I; 22:19387780-19387780	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2080C>T; p.L694F; 22:19361242-19361242	skin	malignant_melanoma	Substitution - Missense
c.2766G>T; p.Q922H; 22:19353438-19353438	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2521G>A; p.D841N; 22:19355800-19355800	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2995C>T; p.R999*; 22:19331499-19331499	skin	malignant_melanoma	Substitution - Nonsense
c.2909C>G; p.T970S; 22:19351386-19351386	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1714C>T; p.R572W; 22:19375692-19375692	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2764C>T; p.Q922*; 22:19353440-19353440	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2679C>A; p.T893T; 22:19354001-19354001	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2388C>T; p.L796L; 22:19356898-19356898	skin	malignant_melanoma	Substitution - coding silent
c.1175C>A; p.S392Y; 22:19385675-19385675	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.397G>A; p.D133N; 22:19405786-19405786	urinary_tract; bladder	carcinoma	Substitution - Missense
c.508C>T; p.L170L; 22:19396933-19396933	skin	malignant_melanoma	Substitution - coding silent
c.494-2A>G; p.?; 22:19396949-19396949	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2839G>A; p.V947I; 22:19353365-19353365	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3034G>A; p.D1012N; 22:19331460-19331460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1334T>G; p.L445R; 22:19383701-19383701	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1334T>G; p.L445R; 22:19383701-19383701	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2396+1G>A; p.?; 22:19356889-19356889	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Unknown
c.343C>A; p.L115I; 22:19405840-19405840	prostate	carcinoma	Substitution - Missense
c.1588G>C; p.A530P; 22:19377894-19377894	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>A; p.A29T; 22:19410731-19410731	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.924G>A; p.S308S; 22:19392113-19392113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.836A>T; p.K279I; 22:19392201-19392201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1429G>A; p.A477T; 22:19378053-19378053	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1741G>T; p.A581S; 22:19375665-19375665	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1269G>C; p.M423I; 22:19385581-19385581	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1454C>T; p.S485L; 22:19378028-19378028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.145C>T; p.L49F; 22:19408549-19408549	skin	malignant_melanoma	Substitution - Missense
c.145C>T; p.L49F; 22:19408549-19408549	skin	malignant_melanoma	Substitution - Missense
c.1903G>C; p.V635L; 22:19361804-19361804	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.985A>T; p.K329*; 22:19388506-19388506	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1330-9C>T; p.?; 22:19383714-19383714	liver	carcinoma	Unknown
c.1330-9C>T; p.?; 22:19383714-19383714	liver	carcinoma	Unknown
c.1330-9C>T; p.?; 22:19383714-19383714	liver	carcinoma	Unknown
c.2210G>A; p.R737Q; 22:19359360-19359360	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2999T>G; p.F1000C; 22:19331495-19331495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2397G>T; p.W799C; 22:19356288-19356288	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1532C>T; p.S511F; 22:19377950-19377950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1532C>T; p.S511F; 22:19377950-19377950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2714C>T; p.S905F; 22:19353490-19353490	skin	malignant_melanoma	Substitution - Missense
c.176T>A; p.I59N; 22:19408518-19408518	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1216C>T; p.R406*; 22:19385634-19385634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2938G>T; p.G980C; 22:19331556-19331556	ovary	other; neoplasm	Substitution - Missense
c.2269C>T; p.L757L; 22:19357017-19357017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.988T>G; p.S330A; 22:19388503-19388503	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1744C>T; p.L582L; 22:19375662-19375662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.873G>A; p.A291A; 22:19392164-19392164	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2618G>A; p.S873N; 22:19354062-19354062	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2082C>T; p.L694L; 22:19361240-19361240	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2082C>T; p.L694L; 22:19361240-19361240	skin	malignant_melanoma	Substitution - coding silent
c.1967C>T; p.S656F; 22:19361740-19361740	skin	malignant_melanoma	Substitution - Missense
c.2171A>C; p.N724T; 22:19359399-19359399	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.993C>G; p.I331M; 22:19388498-19388498	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.72C>T; p.D24D; 22:19410744-19410744	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.72C>T; p.D24D; 22:19410744-19410744	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1689A>G; p.K563K; 22:19375717-19375717	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1383C>T; p.I461I; 22:19383652-19383652	skin	malignant_melanoma	Substitution - coding silent
c.1561C>T; p.P521S; 22:19377921-19377921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12G>A; p.L4L; 22:19431465-19431465	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1206C>G; p.L402L; 22:19385644-19385644	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1206C>G; p.L402L; 22:19385644-19385644	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1560G>C; p.E520D; 22:19377922-19377922	central_nervous_system; brain	glioma	Substitution - Missense
c.771A>G; p.G257G; 22:19394393-19394393	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.2737G>T; p.E913*; 22:19353467-19353467	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.911G>T; p.S304I; 22:19392126-19392126	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2448C>T; p.I816I; 22:19356237-19356237	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2669A>T; p.Q890L; 22:19354011-19354011	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2448C>T; p.I816I; 22:19356237-19356237	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.662G>A; p.G221E; 22:19394502-19394502	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2532G>A; p.A844A; 22:19355789-19355789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2086-7C>T; p.?; 22:19359491-19359491	skin; head_neck	malignant_melanoma; superficial_spreading	Unknown
c.628A>G; p.T210A; 22:19396813-19396813	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.517C>T; p.H173Y; 22:19396924-19396924	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1220G>T; p.R407M; 22:19385630-19385630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.517C>T; p.H173Y; 22:19396924-19396924	skin	malignant_melanoma	Substitution - Missense
c.1677C>T; p.I559I; 22:19375729-19375729	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1235_1238delAGCT; p.Q412fs*34; 22:19385612-19385615	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.100+2T>C; p.?; 22:19410714-19410714	stomach	carcinoma; adenocarcinoma	Unknown
c.1175C>T; p.S392F; 22:19385675-19385675	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2263_2264insA; p.R755fs*67; 22:19357022-19357023	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3002A>G; p.Q1001R; 22:19331492-19331492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1373G>A; p.R458Q; 22:19383662-19383662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1093C>T; p.P365S; 22:19387731-19387731	skin	malignant_melanoma	Substitution - Missense
c.2980A>G; p.I994V; 22:19331514-19331514	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1090G>A; p.D364N; 22:19387734-19387734	oesophagus	carcinoma	Substitution - Missense
c.954G>A; p.R318R; 22:19388537-19388537	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2069G>C; p.R690T; 22:19361253-19361253	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1073C>T; p.S358F; 22:19387751-19387751	skin	malignant_melanoma	Substitution - Missense
c.574C>G; p.Q192E; 22:19396867-19396867	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.891C>A; p.Y297*; 22:19392146-19392146	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3021T>C; p.C1007C; 22:19331473-19331473	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1461C>T; p.S487S; 22:19378021-19378021	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2704C>G; p.R902G; 22:19353500-19353500	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2866C>T; p.R956*; 22:19351429-19351429	breast	carcinoma	Substitution - Nonsense
c.1488_1489delTA; p.H496fs*14; 22:19377993-19377994	stomach	adenocarcinoma	Deletion - Frameshift
c.53C>A; p.S18*; 22:19410763-19410763	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.212-9delT; p.?; 22:19407283-19407283	skin	malignant_melanoma	Unknown
c.2225C>T; p.A742V; 22:19359345-19359345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2085+8C>A; p.?; 22:19361229-19361229	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2606A>T; p.D869V; 22:19354074-19354074	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1178C>T; p.T393I; 22:19385672-19385672	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1267A>G; p.M423V; 22:19385583-19385583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.872C>T; p.A291V; 22:19392165-19392165	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2982C>T; p.I994I; 22:19331512-19331512	skin	malignant_melanoma	Substitution - coding silent
c.1999G>A; p.A667T; 22:19361323-19361323	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.489C>T; p.F163F; 22:19397996-19397996	skin	malignant_melanoma	Substitution - coding silent
c.350A>G; p.N117S; 22:19405833-19405833	pancreas	carcinoma	Substitution - Missense
c.2157C>T; p.S719S; 22:19359413-19359413	skin	malignant_melanoma	Substitution - coding silent
c.350A>G; p.N117S; 22:19405833-19405833	pancreas	carcinoma	Substitution - Missense
c.1183G>A; p.V395I; 22:19385667-19385667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2887C>T; p.L963L; 22:19351408-19351408	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.212-9_212-8insT; p.?; 22:19407282-19407283	skin	malignant_melanoma	Unknown
c.44C>T; p.P15L; 22:19410772-19410772	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1164G>A; p.E388E; 22:19385686-19385686	skin	malignant_melanoma	Substitution - coding silent
c.1935G>A; p.R645R; 22:19361772-19361772	breast	carcinoma	Substitution - coding silent
c.356A>G; p.E119G; 22:19405827-19405827	skin	malignant_melanoma	Substitution - Missense
c.1950_1951delTC; p.R651fs*54; 22:19361756-19361757	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1235_1237delAGC; p.Q412delQ; 22:19385613-19385615	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.2273C>T; p.S758L; 22:19357013-19357013	oesophagus	carcinoma	Substitution - Missense
c.2417T>G; p.V806G; 22:19356268-19356268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2807G>A; p.R936H; 22:19353397-19353397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.84C>T; p.F28F; 22:19410732-19410732	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.84C>T; p.F28F; 22:19410732-19410732	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.212-8_212-7insT; p.?; 22:19407281-19407282	stomach	adenocarcinoma	Unknown
c.1544C>T; p.S515L; 22:19377938-19377938	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2214C>T; p.I738I; 22:19359356-19359356	skin	malignant_melanoma	Substitution - coding silent
c.1544C>T; p.S515L; 22:19377938-19377938	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2280C>T; p.F760F; 22:19357006-19357006	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.82T>C; p.F28L; 22:19410734-19410734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1237_1238insAGC; p.Q412_L413insQ; 22:19385612-19385613	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - In frame
c.808G>A; p.A270T; 22:19394356-19394356	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2859C>T; p.Y953Y; 22:19351436-19351436	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1846G>C; p.E616Q; 22:19361861-19361861	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1383C>A; p.I461I; 22:19383652-19383652	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.262G>A; p.G88R; 22:19407224-19407224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1842C>T; p.S614S; 22:19361865-19361865	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.364C>T; p.R122W; 22:19405819-19405819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]