Entrez Gene

Basic Information
Gene ID	57167
Name	SALL4
Synonymous	spalt-like transcription factor 4;SALL4;spalt-like transcription factor 4
Definition	sal-like protein 4\|zinc finger protein 797\|zinc finger protein SALL4
Position	20q13.2
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 0.04.

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.937T>C; p.F313L; 20:51791546-51791546	skin	malignant_melanoma	Substitution - Missense
c.2976T>C; p.S992S; 20:51784451-51784451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.586C>T; p.R196W; 20:51791897-51791897	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1040C>T; p.P347L; 20:51791443-51791443	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.348C>T; p.S116S; 20:51792135-51792135	breast	carcinoma	Substitution - coding silent
c.1040C>T; p.P347L; 20:51791443-51791443	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1360G>T; p.G454C; 20:51791123-51791123	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.985C>A; p.R329S; 20:51791498-51791498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2365T>C; p.S789P; 20:51790118-51790118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.182C>T; p.A61V; 20:51792301-51792301	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2639C>T; p.S880L; 20:51788964-51788964	breast	carcinoma	Substitution - Missense
c.719delA; p.N240fs*18; 20:51791764-51791764	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2983delG; p.V995fs*14; 20:51784444-51784444	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.91G>T; p.A31S; 20:51802318-51802318	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2983delG; p.V995fs*14; 20:51784444-51784444	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2983delG; p.V995fs*14; 20:51784444-51784444	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2983delG; p.V995fs*14; 20:51784444-51784444	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2983delG; p.V995fs*14; 20:51784444-51784444	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2983delG; p.V995fs*14; 20:51784444-51784444	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2983delG; p.V995fs*14; 20:51784444-51784444	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2946G>A; p.V982V; 20:51784481-51784481	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1576C>A; p.P526T; 20:51790907-51790907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1037G>A; p.S346N; 20:51791446-51791446	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1947G>T; p.M649I; 20:51790536-51790536	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1037G>A; p.S346N; 20:51791446-51791446	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1701A>C; p.E567D; 20:51790782-51790782	liver	carcinoma	Substitution - Missense
c.2591G>A; p.R864H; 20:51789012-51789012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1608C>G; p.F536L; 20:51790875-51790875	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2935G>A; p.G979S; 20:51784492-51784492	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.635C>A; p.P212Q; 20:51791848-51791848	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1756C>T; p.R586C; 20:51790727-51790727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.160G>A; p.E54K; 20:51792323-51792323	large_intestine; colon	carcinoma	Substitution - Missense
c.160G>A; p.E54K; 20:51792323-51792323	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.752G>T; p.G251V; 20:51791731-51791731	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>T; p.G19G; 20:51802352-51802352	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2113T>A; p.S705T; 20:51790370-51790370	skin	malignant_melanoma	Substitution - Missense
c.2591G>C; p.R864P; 20:51789012-51789012	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1427C>T; p.P476L; 20:51791056-51791056	skin	malignant_melanoma	Substitution - Missense
c.2466G>T; p.R822R; 20:51789137-51789137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1427C>T; p.P476L; 20:51791056-51791056	breast	carcinoma	Substitution - Missense
c.2256T>C; p.G752G; 20:51790227-51790227	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.411C>T; p.G137G; 20:51792072-51792072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.612delC; p.V205fs*35; 20:51791871-51791871	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3002C>T; p.S1001F; 20:51784425-51784425	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2213C>T; p.P738L; 20:51790270-51790270	skin	malignant_melanoma	Substitution - Missense
c.3002C>T; p.S1001F; 20:51784425-51784425	skin	malignant_melanoma	Substitution - Missense
c.1860A>G; p.T620T; 20:51790623-51790623	liver	carcinoma	Substitution - coding silent
c.1860A>G; p.T620T; 20:51790623-51790623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1841G>T; p.G614V; 20:51790642-51790642	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.67C>T; p.P23S; 20:51802342-51802342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1860A>G; p.T620T; 20:51790623-51790623	thyroid	other; neoplasm	Substitution - coding silent
c.1778C>T; p.P593L; 20:51790705-51790705	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>G; p.P468R; 20:51791080-51791080	pancreas	carcinoma	Substitution - Missense
c.1849C>A; p.R617R; 20:51790634-51790634	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2015C>T; p.T672I; 20:51790468-51790468	skin; extremity	malignant_melanoma	Substitution - Missense
c.1175G>A; p.G392E; 20:51791308-51791308	skin	malignant_melanoma	Substitution - Missense
c.604C>T; p.P202S; 20:51791879-51791879	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.604C>T; p.P202S; 20:51791879-51791879	skin	malignant_melanoma	Substitution - Missense
c.604C>T; p.P202S; 20:51791879-51791879	skin	malignant_melanoma	Substitution - Missense
c.1331A>T; p.E444V; 20:51791152-51791152	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2446C>T; p.R816C; 20:51790037-51790037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1475_1476GG>AA; p.G492E; 20:51791007-51791008	skin; neck	malignant_melanoma	Substitution - Missense
c.2197C>T; p.P733S; 20:51790286-51790286	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.303C>T; p.L101L; 20:51792180-51792180	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.560G>T; p.R187L; 20:51791923-51791923	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2135T>C; p.L712P; 20:51790348-51790348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2135T>C; p.L712P; 20:51790348-51790348	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2135T>C; p.L712P; 20:51790348-51790348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.778T>A; p.L260M; 20:51791705-51791705	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1488G>A; p.K496K; 20:51790995-51790995	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1896G>T; p.Q632H; 20:51790587-51790587	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.964G>A; p.V322M; 20:51791519-51791519	skin	malignant_melanoma	Substitution - Missense
c.2716G>A; p.A906T; 20:51788887-51788887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.384C>T; p.G128G; 20:51792099-51792099	liver	carcinoma	Substitution - coding silent
c.2258_2259CC>TT; p.S753F; 20:51790224-51790225	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1125C>G; p.D375E; 20:51791358-51791358	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3052G>T; p.G1018C; 20:51784375-51784375	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2918C>T; p.T973I; 20:51784509-51784509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1142A>C; p.K381T; 20:51791341-51791341	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1133C>T; p.A378V; 20:51791350-51791350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2936G>A; p.G979D; 20:51784491-51784491	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2396A>G; p.K799R; 20:51790087-51790087	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1510C>T; p.P504S; 20:51790973-51790973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1108G>A; p.D370N; 20:51791375-51791375	skin	malignant_melanoma	Substitution - Missense
c.1506C>T; p.S502S; 20:51790977-51790977	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1967C>T; p.T656M; 20:51790516-51790516	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1612G>T; p.G538W; 20:51790871-51790871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2594G>A; p.R865Q; 20:51789009-51789009	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1858A>G; p.T620A; 20:51790625-51790625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1373C>T; p.A458V; 20:51791110-51791110	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2497C>T; p.P833S; 20:51789106-51789106	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1387G>C; p.D463H; 20:51791096-51791096	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.345C>A; p.F115L; 20:51792138-51792138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2901T>C; p.V967V; 20:51784526-51784526	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2076T>C; p.D692D; 20:51790407-51790407	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.306C>T; p.I102I; 20:51792177-51792177	skin	malignant_melanoma	Substitution - coding silent
c.2547G>A; p.S849S; 20:51789056-51789056	breast	carcinoma	Substitution - coding silent
c.3147G>T; p.K1049N; 20:51784280-51784280	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3018C>T; p.S1006S; 20:51784409-51784409	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2989A>C; p.T997P; 20:51784438-51784438	breast	carcinoma	Substitution - Missense
c.2302G>A; p.G768R; 20:51790181-51790181	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2291C>A; p.S764Y; 20:51790192-51790192	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.166G>T; p.A56S; 20:51792317-51792317	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2037C>T; p.T679T; 20:51790446-51790446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2578G>T; p.A860S; 20:51789025-51789025	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2037C>T; p.T679T; 20:51790446-51790446	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.193C>T; p.R65W; 20:51792290-51792290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1396G>A; p.D466N; 20:51791087-51791087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2746C>T; p.H916Y; 20:51784681-51784681	skin	malignant_melanoma	Substitution - Missense
c.1946T>C; p.M649T; 20:51790537-51790537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1173T>G; p.F391L; 20:51791310-51791310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.996C>T; p.S332S; 20:51791487-51791487	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2163G>C; p.T721T; 20:51790320-51790320	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1589C>T; p.S530F; 20:51790894-51790894	skin	malignant_melanoma	Substitution - Missense
c.3106G>A; p.V1036I; 20:51784321-51784321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.243C>T; p.F81F; 20:51792240-51792240	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1589C>T; p.S530F; 20:51790894-51790894	skin	malignant_melanoma	Substitution - Missense
c.1589C>T; p.S530F; 20:51790894-51790894	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.307A>G; p.M103V; 20:51792176-51792176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2501C>T; p.P834L; 20:51789102-51789102	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2064C>T; p.I688I; 20:51790419-51790419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.943C>G; p.L315V; 20:51791540-51791540	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3054C>T; p.G1018G; 20:51784373-51784373	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1569G>A; p.G523G; 20:51790914-51790914	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.199C>T; p.R67C; 20:51792284-51792284	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1513G>A; p.G505S; 20:51790970-51790970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513G>A; p.G505S; 20:51790970-51790970	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.410G>A; p.G137D; 20:51792073-51792073	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1513G>A; p.G505S; 20:51790970-51790970	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1418A>T; p.D473V; 20:51791065-51791065	thyroid	other; neoplasm	Substitution - Missense
c.2056G>A; p.D686N; 20:51790427-51790427	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1700A>G; p.E567G; 20:51790783-51790783	liver	carcinoma	Substitution - Missense
c.2056G>A; p.D686N; 20:51790427-51790427	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3139G>T; p.E1047*; 20:51784288-51784288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2291C>T; p.S764F; 20:51790192-51790192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2337C>T; p.I779I; 20:51790146-51790146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2212C>T; p.P738S; 20:51790271-51790271	skin; neck	malignant_melanoma	Substitution - Missense
c.3153G>A; p.A1051A; 20:51784274-51784274	oesophagus	carcinoma	Substitution - coding silent
c.1732C>G; p.Q578E; 20:51790751-51790751	breast	carcinoma	Substitution - Missense
c.2484G>A; p.T828T; 20:51789119-51789119	large_intestine; colon	adenoma	Substitution - coding silent
c.472G>A; p.E158K; 20:51792011-51792011	skin	malignant_melanoma	Substitution - Missense
c.2669G>A; p.R890Q; 20:51788934-51788934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1107G>T; p.V369V; 20:51791376-51791376	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2472T>A; p.S824R; 20:51789131-51789131	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.886C>T; p.H296Y; 20:51791597-51791597	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1800C>T; p.G600G; 20:51790683-51790683	skin	malignant_melanoma	Substitution - coding silent
c.2414C>A; p.A805D; 20:51790069-51790069	ovary	other; neoplasm	Substitution - Missense
c.1800C>T; p.G600G; 20:51790683-51790683	skin	malignant_melanoma	Substitution - coding silent
c.1666G>A; p.E556K; 20:51790817-51790817	skin	malignant_melanoma	Substitution - Missense
c.1333T>C; p.F445L; 20:51791150-51791150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1961C>T; p.P654L; 20:51790522-51790522	skin	malignant_melanoma	Substitution - Missense
c.2239G>A; p.G747S; 20:51790244-51790244	skin	malignant_melanoma	Substitution - Missense
c.1249C>T; p.H417Y; 20:51791234-51791234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1445C>A; p.S482Y; 20:51791038-51791038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.120G>A; p.A40A; 20:51802289-51802289	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2293T>G; p.S765A; 20:51790190-51790190	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2985_2986insA; p.P996fs*15; 20:51784441-51784442	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.634C>G; p.P212A; 20:51791849-51791849	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.665A>T; p.Q222L; 20:51791818-51791818	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2464C>T; p.R822W; 20:51789139-51789139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3056C>G; p.S1019C; 20:51784371-51784371	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2593C>T; p.R865*; 20:51789010-51789010	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1056G>A; p.A352A; 20:51791427-51791427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1035G>A; p.Q345Q; 20:51791448-51791448	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2129C>T; p.T710M; 20:51790354-51790354	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2562G>A; p.G854G; 20:51789041-51789041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1936C>T; p.R646W; 20:51790547-51790547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1035G>A; p.Q345Q; 20:51791448-51791448	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.559C>T; p.R187W; 20:51791924-51791924	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.69G>A; p.P23P; 20:51802340-51802340	pancreas	carcinoma	Substitution - coding silent
c.2546C>T; p.S849L; 20:51789057-51789057	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.124G>A; p.E42K; 20:51802285-51802285	skin	malignant_melanoma	Substitution - Missense
c.141G>A; p.V47V; 20:51792342-51792342	skin	malignant_melanoma	Substitution - coding silent
c.1158C>T; p.Y386Y; 20:51791325-51791325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2786G>A; p.R929H; 20:51784641-51784641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.475A>G; p.T159A; 20:51792008-51792008	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.889G>A; p.A297T; 20:51791594-51791594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2765C>T; p.A922V; 20:51784662-51784662	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2426C>T; p.A809V; 20:51790057-51790057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2765C>T; p.A922V; 20:51784662-51784662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2463T>G; p.G821G; 20:51789140-51789140	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.575C>T; p.A192V; 20:51791908-51791908	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1131G>A; p.A377A; 20:51791352-51791352	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2556C>T; p.S852S; 20:51789047-51789047	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2260G>A; p.V754M; 20:51790223-51790223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.751G>A; p.G251R; 20:51791732-51791732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>A; p.V411M; 20:51791252-51791252	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1131G>A; p.A377A; 20:51791352-51791352	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.751G>A; p.G251R; 20:51791732-51791732	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1844T>A; p.V615D; 20:51790639-51790639	liver	carcinoma	Substitution - Missense
c.2742G>T; p.K914N; 20:51788861-51788861	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.992C>T; p.P331L; 20:51791491-51791491	skin	malignant_melanoma	Substitution - Missense
c.447G>A; p.A149A; 20:51792036-51792036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1055C>T; p.A352V; 20:51791428-51791428	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2986C>T; p.P996S; 20:51784441-51784441	skin	malignant_melanoma	Substitution - Missense
c.1055C>T; p.A352V; 20:51791428-51791428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1949G>C; p.G650A; 20:51790534-51790534	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1055C>T; p.A352V; 20:51791428-51791428	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2986C>T; p.P996S; 20:51784441-51784441	skin	malignant_melanoma	Substitution - Missense
c.1250A>T; p.H417L; 20:51791233-51791233	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1214C>A; p.T405N; 20:51791269-51791269	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2498C>T; p.P833L; 20:51789105-51789105	NS	malignant_melanoma	Substitution - Missense
c.868A>G; p.K290E; 20:51791615-51791615	skin	malignant_melanoma	Substitution - Missense
c.1449A>G; p.V483V; 20:51791034-51791034	large_intestine; rectum	NS	Substitution - coding silent
c.441G>A; p.P147P; 20:51792042-51792042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3156C>T; p.V1052V; 20:51784271-51784271	breast	carcinoma	Substitution - coding silent
c.991C>A; p.P331T; 20:51791492-51791492	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1175G>T; p.G392V; 20:51791308-51791308	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3051T>C; p.D1017D; 20:51784376-51784376	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2443A>G; p.S815G; 20:51790040-51790040	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.663G>A; p.L221L; 20:51791820-51791820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.592G>A; p.A198T; 20:51791891-51791891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.592G>A; p.A198T; 20:51791891-51791891	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1757G>A; p.R586H; 20:51790726-51790726	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1757G>A; p.R586H; 20:51790726-51790726	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1757G>A; p.R586H; 20:51790726-51790726	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1757G>A; p.R586H; 20:51790726-51790726	large_intestine; colon	carcinoma	Substitution - Missense
c.1757G>A; p.R586H; 20:51790726-51790726	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1980G>T; p.E660D; 20:51790503-51790503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1006C>T; p.P336S; 20:51791477-51791477	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1087C>T; p.P363S; 20:51791396-51791396	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1011G>T; p.Q337H; 20:51791472-51791472	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1006C>T; p.P336S; 20:51791477-51791477	skin	malignant_melanoma	Substitution - Missense
c.2967G>T; p.V989V; 20:51784460-51784460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2150C>T; p.S717L; 20:51790333-51790333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.11G>A; p.R4H; 20:51802398-51802398	prostate	carcinoma	Substitution - Missense
c.1417G>T; p.D473Y; 20:51791066-51791066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1520T>G; p.L507R; 20:51790963-51790963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2198C>T; p.P733L; 20:51790285-51790285	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2197C>A; p.P733T; 20:51790286-51790286	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2332G>A; p.D778N; 20:51790151-51790151	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2065G>A; p.E689K; 20:51790418-51790418	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2065G>A; p.E689K; 20:51790418-51790418	skin	malignant_melanoma	Substitution - Missense
c.2222T>C; p.F741S; 20:51790261-51790261	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2832_2833GG>AA; p.T944>?; 20:51784594-51784595	skin; trunk	malignant_melanoma	Complex
c.1187C>T; p.S396F; 20:51791296-51791296	skin	malignant_melanoma	Substitution - Missense
c.2065G>A; p.E689K; 20:51790418-51790418	skin	malignant_melanoma	Substitution - Missense
c.2228T>C; p.L743P; 20:51790255-51790255	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2065G>A; p.E689K; 20:51790418-51790418	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1512C>T; p.P504P; 20:51790971-51790971	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1137C>T; p.L379L; 20:51791346-51791346	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.325C>G; p.P109A; 20:51792158-51792158	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>T; p.D664Y; 20:51790493-51790493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.116C>T; p.A39V; 20:51802293-51802293	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1746G>A; p.K582K; 20:51790737-51790737	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2907G>T; p.W969C; 20:51784520-51784520	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2620C>T; p.R874W; 20:51788983-51788983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.114C>A; p.P38P; 20:51802295-51802295	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1447G>T; p.V483L; 20:51791036-51791036	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.588G>T; p.R196R; 20:51791895-51791895	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.29A>T; p.Q10L; 20:51802380-51802380	skin	malignant_melanoma	Substitution - Missense
c.2782C>T; p.R928C; 20:51784645-51784645	stomach	adenocarcinoma	Substitution - Missense
c.2944G>A; p.V982M; 20:51784483-51784483	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2784C>T; p.R928R; 20:51784643-51784643	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.612C>T; p.P204P; 20:51791871-51791871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.27C>T; p.P9P; 20:51802382-51802382	skin	malignant_melanoma	Substitution - coding silent
c.2234G>A; p.R745H; 20:51790249-51790249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2134C>T; p.L712F; 20:51790349-51790349	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2151G>A; p.S717S; 20:51790332-51790332	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2186C>T; p.S729F; 20:51790297-51790297	skin	malignant_melanoma	Substitution - Missense
c.1126G>A; p.E376K; 20:51791357-51791357	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1869G>T; p.K623N; 20:51790614-51790614	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.767C>G; p.T256S; 20:51791716-51791716	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.149C>T; p.P50L; 20:51792334-51792334	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.897C>G; p.I299M; 20:51791586-51791586	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1629G>A; p.E543E; 20:51790854-51790854	breast	carcinoma	Substitution - coding silent
c.236C>T; p.A79V; 20:51792247-51792247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2808G>C; p.E936D; 20:51784619-51784619	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1102G>A; p.A368T; 20:51791381-51791381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.806C>G; p.S269C; 20:51791677-51791677	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1102G>A; p.A368T; 20:51791381-51791381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1102G>A; p.A368T; 20:51791381-51791381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2974A>C; p.S992R; 20:51784453-51784453	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2422A>C; p.K808Q; 20:51790061-51790061	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1791G>C; p.K597N; 20:51790692-51790692	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1472C>T; p.S491L; 20:51791011-51791011	skin	malignant_melanoma	Substitution - Missense
c.514G>A; p.A172T; 20:51791969-51791969	skin	malignant_melanoma	Substitution - Missense
c.1272C>T; p.N424N; 20:51791211-51791211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1420A>C; p.S474R; 20:51791063-51791063	thyroid	other; neoplasm	Substitution - Missense
c.1445C>T; p.S482F; 20:51791038-51791038	skin	malignant_melanoma	Substitution - Missense
c.1292G>A; p.R431Q; 20:51791191-51791191	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2311G>A; p.E771K; 20:51790172-51790172	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1292G>A; p.R431Q; 20:51791191-51791191	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1421G>T; p.S474I; 20:51791062-51791062	thyroid	other; neoplasm	Substitution - Missense
c.1204C>T; p.R402C; 20:51791279-51791279	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1022C>T; p.S341L; 20:51791461-51791461	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2215G>A; p.A739T; 20:51790268-51790268	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10C>T; p.R4C; 20:51802399-51802399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2073C>T; p.I691I; 20:51790410-51790410	skin	malignant_melanoma	Substitution - coding silent
c.2168G>A; p.G723E; 20:51790315-51790315	skin; extremity	malignant_melanoma	Substitution - Missense
c.3105C>G; p.G1035G; 20:51784322-51784322	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.12C>A; p.R4R; 20:51802397-51802397	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.202C>T; p.R68W; 20:51792281-51792281	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.306C>A; p.I102I; 20:51792177-51792177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1103C>T; p.A368V; 20:51791380-51791380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2650G>A; p.A884T; 20:51788953-51788953	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2871C>T; p.I957I; 20:51784556-51784556	skin	malignant_melanoma	Substitution - coding silent
c.949C>T; p.P317S; 20:51791534-51791534	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.215A>T; p.H72L; 20:51792268-51792268	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1019G>A; p.G340D; 20:51791464-51791464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.949C>T; p.P317S; 20:51791534-51791534	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2269G>A; p.D757N; 20:51790214-51790214	skin	malignant_melanoma	Substitution - Missense
c.1091C>T; p.P364L; 20:51791392-51791392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1860A>T; p.T620T; 20:51790623-51790623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.925G>T; p.G309W; 20:51791558-51791558	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.184A>G; p.T62A; 20:51792299-51792299	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3124C>T; p.P1042S; 20:51784303-51784303	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1101C>T; p.S367S; 20:51791382-51791382	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101C>T; p.S367S; 20:51791382-51791382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1101C>T; p.S367S; 20:51791382-51791382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.847G>T; p.G283C; 20:51791636-51791636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1230C>T; p.F410F; 20:51791253-51791253	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1230C>T; p.F410F; 20:51791253-51791253	skin	malignant_melanoma	Substitution - coding silent
c.1985C>T; p.P662L; 20:51790498-51790498	skin; head_neck	carcinoma; squamous_cell_carcinoma	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]