Entrez Gene

Basic Information
Gene ID	5927
Name	KDM5A
Synonymous	lysine (K)-specific demethylase 5A;KDM5A;lysine (K)-specific demethylase 5A
Definition	Jumonji, AT rich interactive domain 1A (RBP2-like)\|histone demethylase JARID1A\|jumonji/ARID domain-containing protein 1A\|lysine-specific demethylase 5A\|retinoblastoma binding protein 2
Position	12p11
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.11.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.4478G>T; p.S1493I; 12:293162-293162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3596_3597delAA; p.K1199fs*7; 12:307787-307788	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3493A>G; p.I1165V; 12:307891-307891	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2233C>T; p.R745C; 12:323124-323124	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2233C>T; p.R745C; 12:323124-323124	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2034A>G; p.A678A; 12:323716-323716	stomach	adenocarcinoma	Substitution - coding silent
c.4262C>A; p.P1421Q; 12:295781-295781	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4261C>T; p.P1421S; 12:295782-295782	NS	malignant_melanoma	Substitution - Missense
c.2682G>A; p.L894L; 12:318321-318321	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1902G>A; p.M634I; 12:328901-328901	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1615A>G; p.I539V; 12:333525-333525	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>T; p.A622S; 12:328939-328939	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3693A>G; p.V1231V; 12:307691-307691	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2662C>T; p.L888F; 12:318341-318341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3598_3599insA; p.G1200fs*7; 12:307785-307786	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3697C>T; p.L1233F; 12:307687-307687	urinary_tract; bladder	carcinoma	Substitution - Missense
c.570A>C; p.E190D; 12:363065-363065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4527G>A; p.K1509K; 12:293113-293113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2033_2044del12; p.R680_C683delRTTC; 12:323706-323717	prostate	carcinoma	Deletion - In frame
c.4148C>T; p.S1383F; 12:297127-297127	skin; trunk	malignant_melanoma	Substitution - Missense
c.769G>C; p.D257H; 12:356441-356441	breast	carcinoma	Substitution - Missense
c.3711C>T; p.P1237P; 12:307673-307673	skin	malignant_melanoma	Substitution - coding silent
c.2643C>T; p.G881G; 12:318360-318360	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3219G>T; p.V1073V; 12:309962-309962	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1308G>T; p.E436D; 12:350621-350621	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1308G>T; p.E436D; 12:350621-350621	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4538G>A; p.R1513Q; 12:293102-293102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5040T>A; p.A1680A; 12:285585-285585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.713A>C; p.K238T; 12:356497-356497	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2636A>T; p.D879V; 12:318367-318367	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1303G>A; p.E435K; 12:350626-350626	breast	carcinoma	Substitution - Missense
c.3758C>T; p.A1253V; 12:307626-307626	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3254G>A; p.S1085N; 12:309927-309927	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3685C>T; p.L1229F; 12:307699-307699	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2473G>T; p.E825*; 12:321063-321063	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2345G>A; p.R782Q; 12:322498-322498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3044G>T; p.S1015I; 12:311057-311057	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3044G>T; p.S1015I; 12:311057-311057	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2473G>T; p.E825*; 12:321063-321063	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1268C>T; p.P423L; 12:350661-350661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2087G>A; p.R696Q; 12:323663-323663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1268C>T; p.P423L; 12:350661-350661	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.339A>C; p.K113N; 12:384058-384058	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2897+3G>A; p.?; 12:318103-318103	kidney	other; neoplasm	Unknown
c.349C>A; p.L117M; 12:384048-384048	breast	carcinoma	Substitution - Missense
c.1115A>C; p.N372T; 12:352239-352239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3230_3231insC; p.T1078fs*12; 12:309950-309951	skin	malignant_melanoma	Insertion - Frameshift
c.3061G>T; p.E1021*; 12:311040-311040	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.3061G>T; p.E1021*; 12:311040-311040	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.744T>A; p.V248V; 12:356466-356466	prostate	carcinoma	Substitution - coding silent
c.1027G>A; p.E343K; 12:354078-354078	skin	malignant_melanoma	Substitution - Missense
c.3649C>T; p.R1217W; 12:307735-307735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3649C>T; p.R1217W; 12:307735-307735	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.3597_3598insA; p.G1200fs*7; 12:307786-307787	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.469C>G; p.L157V; 12:366002-366002	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2225G>T; p.W742L; 12:323132-323132	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.791G>A; p.R264Q; 12:355237-355237	breast	carcinoma	Substitution - Missense
c.1912G>T; p.E638*; 12:328891-328891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.797G>A; p.R266Q; 12:355231-355231	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3499C>T; p.R1167C; 12:307885-307885	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1024G>A; p.A342T; 12:354081-354081	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	stomach	adenocarcinoma	Deletion - Frameshift
c.227G>A; p.R76H; 12:385913-385913	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4075-3C>T; p.?; 12:297203-297203	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3597delA; p.G1200fs*9; 12:307787-307787	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.227G>A; p.R76H; 12:385913-385913	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3597delA; p.G1200fs*9; 12:307787-307787	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3862G>A; p.A1288T; 12:307522-307522	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.796C>T; p.R266*; 12:355232-355232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.402C>A; p.T134T; 12:366069-366069	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2161C>A; p.P721T; 12:323196-323196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4820A>G; p.E1607G; 12:292820-292820	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2155C>T; p.R719C; 12:323202-323202	skin	malignant_melanoma	Substitution - Missense
c.3265A>T; p.R1089W; 12:309916-309916	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2815G>C; p.E939Q; 12:318188-318188	breast	carcinoma	Substitution - Missense
c.2155C>T; p.R719C; 12:323202-323202	skin	malignant_melanoma	Substitution - Missense
c.3270G>A; p.R1090R; 12:309911-309911	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3561C>T; p.S1187S; 12:307823-307823	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2333A>G; p.N778S; 12:322510-322510	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4016A>T; p.D1339V; 12:307004-307004	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3123G>A; p.P1041P; 12:310978-310978	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4170G>A; p.M1390I; 12:297105-297105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2908A>T; p.S970C; 12:313184-313184	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.755C>T; p.A252V; 12:356455-356455	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.755C>T; p.A252V; 12:356455-356455	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3122C>T; p.P1041L; 12:310979-310979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>C; p.V230L; 12:356522-356522	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2045C>T; p.T682I; 12:323705-323705	pancreas	carcinoma	Substitution - Missense
c.881A>T; p.Y294F; 12:354224-354224	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2511G>A; p.P837P; 12:321025-321025	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2511G>A; p.P837P; 12:321025-321025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2530C>T; p.R844W; 12:321006-321006	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1963C>G; p.Q655E; 12:328840-328840	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1528G>T; p.A510S; 12:333612-333612	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1790A>C; p.Q597P; 12:329013-329013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1346C>T; p.P449L; 12:334385-334385	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3044G>C; p.S1015T; 12:311057-311057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3016G>A; p.A1006T; 12:313076-313076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4395C>A; p.D1465E; 12:295648-295648	liver	carcinoma	Substitution - Missense
c.3450C>T; p.A1150A; 12:307934-307934	skin	malignant_melanoma	Substitution - coding silent
c.4395C>A; p.D1465E; 12:295648-295648	liver	carcinoma	Substitution - Missense
c.491G>T; p.R164I; 12:365980-365980	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4150G>A; p.E1384K; 12:297125-297125	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3666G>A; p.R1222R; 12:307718-307718	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4150G>A; p.E1384K; 12:297125-297125	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3083C>T; p.A1028V; 12:311018-311018	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1696T>A; p.F566I; 12:331896-331896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2145T>C; p.C715C; 12:323605-323605	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4357C>T; p.L1453F; 12:295686-295686	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3515G>T; p.G1172V; 12:307869-307869	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1076G>T; p.R359L; 12:352278-352278	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2139G>T; p.K713N; 12:323611-323611	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1703G>A; p.R568H; 12:331889-331889	prostate	carcinoma	Substitution - Missense
c.5143A>G; p.M1715V; 12:285482-285482	skin	malignant_melanoma	Substitution - Missense
c.3982G>A; p.V1328M; 12:307038-307038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2454G>T; p.R818R; 12:321082-321082	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.313C>G; p.L105V; 12:384084-384084	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1370C>T; p.A457V; 12:334361-334361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.973C>T; p.P325S; 12:354132-354132	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1808G>A; p.R603Q; 12:328995-328995	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1456G>A; p.D486N; 12:334275-334275	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1999G>C; p.E667Q; 12:323751-323751	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2098C>T; p.L700F; 12:323652-323652	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1999G>C; p.E667Q; 12:323751-323751	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4221G>T; p.K1407N; 12:297054-297054	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3660G>T; p.R1220S; 12:307724-307724	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3037-1G>C; p.?; 12:311065-311065	urinary_tract; bladder	carcinoma	Unknown
c.645G>A; p.P215P; 12:362990-362990	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4211C>A; p.S1404Y; 12:297064-297064	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2775G>C; p.L925L; 12:318228-318228	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4592A>C; p.E1531A; 12:293048-293048	pancreas	carcinoma	Substitution - Missense
c.4619A>T; p.K1540M; 12:293021-293021	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1413C>G; p.L471L; 12:334318-334318	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.333G>A; p.E111E; 12:384064-384064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2628G>A; p.M876I; 12:318375-318375	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1609G>A; p.V537I; 12:333531-333531	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2379C>A; p.T793T; 12:322464-322464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3360C>T; p.T1120T; 12:309821-309821	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2541+3G>A; p.?; 12:320992-320992	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1943G>A; p.R648Q; 12:328860-328860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3276delA; p.V1093fs*1; 12:309905-309905	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3898C>T; p.L1300F; 12:307486-307486	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5042A>T; p.E1681V; 12:285583-285583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>T; p.P469L; 12:334325-334325	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.190G>C; p.E64Q; 12:385950-385950	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2086C>T; p.R696W; 12:323664-323664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3235G>A; p.D1079N; 12:309946-309946	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2086C>T; p.R696W; 12:323664-323664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2086C>T; p.R696W; 12:323664-323664	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3781C>T; p.R1261W; 12:307603-307603	skin; trunk	malignant_melanoma	Substitution - Missense
c.1917G>T; p.L639F; 12:328886-328886	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3235G>A; p.D1079N; 12:309946-309946	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.342C>T; p.I114I; 12:384055-384055	skin	malignant_melanoma	Substitution - coding silent
c.2315A>C; p.D772A; 12:322528-322528	skin	malignant_melanoma	Substitution - Missense
c.3091C>T; p.R1031C; 12:311010-311010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3091C>T; p.R1031C; 12:311010-311010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2293G>A; p.V765I; 12:322550-322550	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3091C>T; p.R1031C; 12:311010-311010	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1023C>G; p.V341V; 12:354082-354082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2287T>G; p.L763V; 12:322556-322556	skin	malignant_melanoma	Substitution - Missense
c.2049T>C; p.C683C; 12:323701-323701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4537C>T; p.R1513W; 12:293103-293103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4366G>A; p.V1456I; 12:295677-295677	skin; extremity	malignant_melanoma	Substitution - Missense
c.1969-6_1969-2delTTTCA; p.?; 12:323783-323787	breast	carcinoma	Unknown
c.2275G>A; p.D759N; 12:323082-323082	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.878T>C; p.L293P; 12:354227-354227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1810C>T; p.R604C; 12:328993-328993	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1810C>T; p.R604C; 12:328993-328993	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4773A>C; p.K1591N; 12:292867-292867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5138T>C; p.L1713P; 12:285487-285487	breast	carcinoma	Substitution - Missense
c.1810C>T; p.R604C; 12:328993-328993	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2928C>A; p.S976R; 12:313164-313164	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.3442A>G; p.N1148D; 12:307942-307942	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.974C>T; p.P325L; 12:354131-354131	skin	malignant_melanoma	Substitution - Missense
c.1835C>T; p.S612L; 12:328968-328968	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43C>T; p.P15S; 12:389049-389049	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.735G>A; p.G245G; 12:356475-356475	breast	carcinoma	Substitution - coding silent
c.2765T>C; p.M922T; 12:318238-318238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2678G>A; p.R893Q; 12:318325-318325	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2678G>A; p.R893Q; 12:318325-318325	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4317G>A; p.V1439V; 12:295726-295726	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2623C>T; p.Q875*; 12:318380-318380	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.95delC; p.P32fs*34; 12:388997-388997	breast	carcinoma	Deletion - Frameshift
c.3484A>C; p.K1162Q; 12:307900-307900	thyroid	carcinoma	Substitution - Missense
c.3721C>T; p.P1241S; 12:307663-307663	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4362G>A; p.M1454I; 12:295681-295681	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4362G>A; p.M1454I; 12:295681-295681	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1774-1G>A; p.?; 12:329030-329030	skin	malignant_melanoma	Unknown
c.2758G>T; p.D920Y; 12:318245-318245	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2758G>T; p.D920Y; 12:318245-318245	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.541G>A; p.V181M; 12:363094-363094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.920A>C; p.K307T; 12:354185-354185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4208C>T; p.S1403F; 12:297067-297067	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2718A>C; p.E906D; 12:318285-318285	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1475T>G; p.I492S; 12:334256-334256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2340C>T; p.L780L; 12:322503-322503	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4283G>A; p.S1428N; 12:295760-295760	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4274C>T; p.P1425L; 12:295769-295769	skin	malignant_melanoma	Substitution - Missense
c.3278T>C; p.V1093A; 12:309903-309903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.692G>A; p.S231N; 12:356518-356518	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3470G>A; p.R1157H; 12:307914-307914	prostate	carcinoma	Substitution - Missense
c.1413C>T; p.L471L; 12:334318-334318	thyroid	other; neoplasm	Substitution - coding silent
c.3631C>T; p.L1211F; 12:307753-307753	skin	malignant_melanoma	Substitution - Missense
c.3786G>T; p.Q1262H; 12:307598-307598	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.851G>A; p.G284D; 12:355177-355177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4274C>G; p.P1425R; 12:295769-295769	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3568C>T; p.P1190S; 12:307816-307816	skin; trunk	malignant_melanoma	Substitution - Missense
c.672+3A>G; p.?; 12:362960-362960	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.3365A>G; p.D1122G; 12:309816-309816	central_nervous_system; brain	glioma	Substitution - Missense
c.3365A>G; p.D1122G; 12:309816-309816	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.4048C>T; p.R1350*; 12:306972-306972	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3037-31_3038del33; p.?; 12:311063-311095	breast	carcinoma	Unknown
c.3766T>C; p.W1256R; 12:307618-307618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4848A>C; p.A1616A; 12:292792-292792	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1578T>C; p.F526F; 12:333562-333562	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.984T>C; p.P328P; 12:354121-354121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3747G>A; p.L1249L; 12:307637-307637	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2776A>G; p.I926V; 12:318227-318227	liver	carcinoma	Substitution - Missense
c.551C>T; p.P184L; 12:363084-363084	NS	NS	Substitution - Missense
c.322C>T; p.P108S; 12:384075-384075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2946G>T; p.K982N; 12:313146-313146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3602C>T; p.S1201F; 12:307782-307782	skin	malignant_melanoma	Substitution - Missense
c.4634T>G; p.L1545*; 12:293006-293006	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2715C>T; p.D905D; 12:318288-318288	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.790C>T; p.R264*; 12:355238-355238	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3686T>C; p.L1229P; 12:307698-307698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2130C>T; p.P710P; 12:323620-323620	skin	malignant_melanoma	Substitution - coding silent
c.51A>G; p.P17P; 12:389041-389041	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2022G>A; p.R674R; 12:323728-323728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5121C>A; p.F1707L; 12:285504-285504	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4858T>C; p.C1620R; 12:292782-292782	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2763C>T; p.V921V; 12:318240-318240	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.31G>C; p.A11P; 12:389061-389061	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.970A>G; p.I324V; 12:354135-354135	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3048T>C; p.N1016N; 12:311053-311053	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1974C>T; p.V658V; 12:323776-323776	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4697G>T; p.R1566I; 12:292943-292943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4994A>G; p.D1665G; 12:285631-285631	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1870C>T; p.P624S; 12:328933-328933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4437A>C; p.P1479P; 12:295606-295606	breast	carcinoma	Substitution - coding silent
c.4807T>G; p.S1603A; 12:292833-292833	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4298G>A; p.R1433Q; 12:295745-295745	skin	malignant_melanoma	Substitution - Missense
c.4710G>A; p.K1570K; 12:292930-292930	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2821G>A; p.A941T; 12:318182-318182	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1819C>T; p.R607C; 12:328984-328984	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1583C>G; p.S528C; 12:333557-333557	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1121A>G; p.K374R; 12:352233-352233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3041G>A; p.G1014D; 12:311060-311060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.434G>A; p.R145H; 12:366037-366037	pancreas	carcinoma	Substitution - Missense
c.3250G>A; p.G1084R; 12:309931-309931	ovary	other; neoplasm	Substitution - Missense
c.965G>A; p.C322Y; 12:354140-354140	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3571C>T; p.L1191F; 12:307813-307813	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3710C>T; p.P1237L; 12:307674-307674	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1930G>A; p.E644K; 12:328873-328873	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2716G>T; p.E906*; 12:318287-318287	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2020C>T; p.R674W; 12:323730-323730	breast	carcinoma	Substitution - Missense
c.1658A>G; p.Y553C; 12:331934-331934	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.166-1G>A; p.?; 12:385975-385975	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3715C>T; p.R1239W; 12:307669-307669	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3715C>T; p.R1239W; 12:307669-307669	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2564A>T; p.E855V; 12:318439-318439	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1883A>G; p.D628G; 12:328920-328920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.659G>T; p.R220L; 12:362976-362976	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>A; p.P469Q; 12:334325-334325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1052C>T; p.A351V; 12:352302-352302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.774A>T; p.K258N; 12:356436-356436	kidney	other; neoplasm	Substitution - Missense
c.671A>G; p.Q224R; 12:362964-362964	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1406C>A; p.P469Q; 12:334325-334325	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4499A>C; p.K1500T; 12:293141-293141	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4499A>C; p.K1500T; 12:293141-293141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3601T>C; p.S1201P; 12:307783-307783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1332T>G; p.N444K; 12:334399-334399	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3363_3364insAGA; p.R1121_D1122insR; 12:309817-309818	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - In frame
c.2427-6C>T; p.?; 12:321115-321115	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.820G>A; p.A274T; 12:355208-355208	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.659G>A; p.R220H; 12:362976-362976	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2131A>C; p.M711L; 12:323619-323619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1991_1993delAAG; p.E664delE; 12:323757-323759	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.537+1G>A; p.?; 12:365933-365933	skin	malignant_melanoma	Unknown
c.4098T>C; p.S1366S; 12:297177-297177	breast	carcinoma	Substitution - coding silent
c.3619G>T; p.E1207*; 12:307765-307765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4265G>A; p.R1422K; 12:295778-295778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3497G>A; p.C1166Y; 12:307887-307887	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955C>G; p.H319D; 12:354150-354150	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2355G>A; p.R785R; 12:322488-322488	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1871C>T; p.P624L; 12:328932-328932	skin	malignant_melanoma	Substitution - Missense
c.4421delT; p.L1474fs*26; 12:295622-295622	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.498C>G; p.L166L; 12:365973-365973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4470+6G>T; p.?; 12:295567-295567	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.498C>G; p.L166L; 12:365973-365973	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4154A>C; p.E1385A; 12:297121-297121	ovary	other; neoplasm	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]