Entrez Gene

Basic Information
Gene ID	23328
Name	SASH1
Synonymous	SAM and SH3 domain containing 1;SASH1;SAM and SH3 domain containing 1
Definition	2500002E12Rik\|SAM and SH3 domain-containing protein 1\|proline-glutamate repeat-containing protein
Position	6q24.3
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 0.10.

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.2973G>A; p.K991K; 6:148544443-148544443	skin	malignant_melanoma	Substitution - coding silent
c.2041C>T; p.P681S; 6:148534847-148534847	skin	malignant_melanoma	Substitution - Missense
c.273G>A; p.Q91Q; 6:148390250-148390250	skin	malignant_melanoma	Substitution - coding silent
c.1992C>G; p.T664T; 6:148534798-148534798	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.229G>A; p.V77M; 6:148390206-148390206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3472C>T; p.R1158C; 6:148546138-148546138	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3072_3080delCAGCCCCGC; p.A1027_P1029delASP; 6:148544542-148544550	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.476G>A; p.R159Q; 6:148471465-148471465	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3472C>A; p.R1158S; 6:148546138-148546138	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.476G>A; p.R159Q; 6:148471465-148471465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3195C>T; p.P1065P; 6:148544665-148544665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2459G>A; p.R820Q; 6:148543929-148543929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.476G>A; p.R159Q; 6:148471465-148471465	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1735-1G>T; p.?; 6:148533770-148533770	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2850C>T; p.G950G; 6:148544320-148544320	skin	malignant_melanoma	Substitution - coding silent
c.992C>T; p.S331F; 6:148519676-148519676	skin	malignant_melanoma	Substitution - Missense
c.1673G>A; p.R558H; 6:148532905-148532905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.997A>G; p.T333A; 6:148519681-148519681	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3099C>T; p.S1033S; 6:148544569-148544569	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3099C>T; p.S1033S; 6:148544569-148544569	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3723G>A; p.P1241P; 6:148548537-148548537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3031C>T; p.L1011F; 6:148544501-148544501	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.805C>G; p.R269G; 6:148514399-148514399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2984G>A; p.R995H; 6:148544454-148544454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2774C>G; p.P925R; 6:148544244-148544244	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>T; p.D230Y; 6:148487674-148487674	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1648C>T; p.P550S; 6:148532880-148532880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2521G>T; p.D841Y; 6:148543991-148543991	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2259C>G; p.P753P; 6:148543729-148543729	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3020C>T; p.P1007L; 6:148544490-148544490	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2457C>T; p.C819C; 6:148543927-148543927	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.309G>A; p.T103T; 6:148440207-148440207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2467G>A; p.E823K; 6:148543937-148543937	breast	carcinoma	Substitution - Missense
c.476G>T; p.R159L; 6:148471465-148471465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2478G>A; p.E826E; 6:148543948-148543948	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1854G>T; p.E618D; 6:148533890-148533890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.908G>T; p.R303L; 6:148519592-148519592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1473G>A; p.Q491Q; 6:148531570-148531570	liver	carcinoma	Substitution - coding silent
c.1713C>T; p.D571D; 6:148532945-148532945	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1806C>T; p.V602V; 6:148533842-148533842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.729+4A>G; p.?; 6:148487719-148487719	liver	carcinoma	Unknown
c.729+4A>G; p.?; 6:148487719-148487719	liver	carcinoma	Unknown
c.3275A>T; p.D1092V; 6:148544745-148544745	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85C>T; p.P29S; 6:148343152-148343152	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.635A>G; p.E212G; 6:148487621-148487621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3602C>T; p.A1201V; 6:148548416-148548416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2483C>T; p.P828L; 6:148543953-148543953	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.234C>T; p.C78C; 6:148390211-148390211	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2458C>G; p.R820G; 6:148543928-148543928	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2034C>T; p.I678I; 6:148534840-148534840	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2034C>T; p.I678I; 6:148534840-148534840	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3452A>G; p.K1151R; 6:148546118-148546118	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1168G>T; p.E390*; 6:148519852-148519852	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1191C>T; p.L397L; 6:148519875-148519875	prostate	adenoma	Substitution - coding silent
c.1191C>T; p.L397L; 6:148519875-148519875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1191C>T; p.L397L; 6:148519875-148519875	breast	carcinoma	Substitution - coding silent
c.1576G>C; p.V526L; 6:148532808-148532808	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3088A>C; p.T1030P; 6:148544558-148544558	breast	carcinoma	Substitution - Missense
c.3048G>A; p.A1016A; 6:148544518-148544518	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3524C>T; p.S1175F; 6:148548338-148548338	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3524C>T; p.S1175F; 6:148548338-148548338	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2985C>T; p.R995R; 6:148544455-148544455	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1117_1124delTTCTCCTA; p.F373fs*37; 6:148519801-148519808	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3460C>T; p.R1154W; 6:148546126-148546126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1607G>A; p.R536Q; 6:148532839-148532839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2037G>A; p.R679R; 6:148534843-148534843	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1368A>G; p.S456S; 6:148527536-148527536	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2064G>T; p.L688F; 6:148534870-148534870	large_intestine	adenoma	Substitution - Missense
c.2702C>A; p.S901Y; 6:148544172-148544172	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3122C>T; p.P1041L; 6:148544592-148544592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1639G>A; p.E547K; 6:148532871-148532871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2446G>A; p.V816I; 6:148543916-148543916	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1482C>T; p.P494P; 6:148531579-148531579	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.567G>A; p.R189R; 6:148474162-148474162	liver	carcinoma	Substitution - coding silent
c.1535G>A; p.R512H; 6:148531632-148531632	breast	carcinoma	Substitution - Missense
c.1898C>T; p.P633L; 6:148533934-148533934	skin	malignant_melanoma	Substitution - Missense
c.2711A>G; p.Q904R; 6:148544181-148544181	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1035G>C; p.G345G; 6:148519719-148519719	ovary	other; neoplasm	Substitution - coding silent
c.1759A>G; p.S587G; 6:148533795-148533795	skin	malignant_melanoma	Substitution - Missense
c.1944+8G>A; p.?; 6:148533988-148533988	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.845A>T; p.K282I; 6:148514439-148514439	liver	carcinoma	Substitution - Missense
c.844delA; p.K283fs*80; 6:148514438-148514438	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2020G>A; p.D674N; 6:148534826-148534826	skin; trunk	malignant_melanoma	Substitution - Missense
c.1297G>A; p.D433N; 6:148527465-148527465	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2307G>A; p.L769L; 6:148543777-148543777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3243G>C; p.L1081F; 6:148544713-148544713	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3341C>A; p.S1114Y; 6:148544811-148544811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.660G>A; p.S220S; 6:148487646-148487646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3310G>A; p.E1104K; 6:148544780-148544780	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2866G>A; p.E956K; 6:148544336-148544336	thyroid	other; neoplasm	Substitution - Missense
c.2512C>T; p.H838Y; 6:148543982-148543982	skin; neck	malignant_melanoma	Substitution - Missense
c.2866G>A; p.E956K; 6:148544336-148544336	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.555C>T; p.S185S; 6:148474150-148474150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.420C>T; p.S140S; 6:148468578-148468578	liver	carcinoma	Substitution - coding silent
c.555C>T; p.S185S; 6:148474150-148474150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1812G>A; p.T604T; 6:148533848-148533848	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.420C>T; p.S140S; 6:148468578-148468578	liver	carcinoma	Substitution - coding silent
c.2823C>T; p.H941H; 6:148544293-148544293	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2823C>T; p.H941H; 6:148544293-148544293	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2293A>G; p.N765D; 6:148543763-148543763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2714A>C; p.K905T; 6:148544184-148544184	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1464G>A; p.P488P; 6:148531561-148531561	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1348C>G; p.L450V; 6:148527516-148527516	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2042C>T; p.P681L; 6:148534848-148534848	skin	malignant_melanoma	Substitution - Missense
c.337G>A; p.E113K; 6:148440358-148440358	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.264G>T; p.R88R; 6:148390241-148390241	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2361G>T; p.L787L; 6:148543831-148543831	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.337G>T; p.E113*; 6:148440358-148440358	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3519C>T; p.P1173P; 6:148548333-148548333	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1849G>A; p.E617K; 6:148533885-148533885	breast	carcinoma	Substitution - Missense
c.206A>T; p.Y69F; 6:148390183-148390183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1242G>A; p.T414T; 6:148525323-148525323	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1419C>A; p.V473V; 6:148527587-148527587	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.862+1G>C; p.?; 6:148514457-148514457	prostate	carcinoma	Unknown
c.823C>G; p.L275V; 6:148514417-148514417	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2507G>A; p.R836Q; 6:148543977-148543977	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.425_426insA; p.G143fs*10; 6:148468583-148468584	liver	carcinoma	Insertion - Frameshift
c.3355C>T; p.R1119C; 6:148546021-148546021	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1108G>T; p.G370W; 6:148519792-148519792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3003C>T; p.H1001H; 6:148544473-148544473	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2143C>T; p.Q715*; 6:148540490-148540490	skin	malignant_melanoma	Substitution - Nonsense
c.3512G>A; p.R1171Q; 6:148548326-148548326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3500C>T; p.T1167M; 6:148548314-148548314	liver	carcinoma	Substitution - Missense
c.3010C>T; p.P1004S; 6:148544480-148544480	skin; trunk	malignant_melanoma	Substitution - Missense
c.1043G>T; p.R348L; 6:148519727-148519727	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1646C>T; p.P549L; 6:148532878-148532878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.195G>C; p.Q65H; 6:148390172-148390172	liver	carcinoma	Substitution - Missense
c.195G>C; p.Q65H; 6:148390172-148390172	liver	carcinoma	Substitution - Missense
c.2837C>T; p.T946M; 6:148544307-148544307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	thyroid	other; neoplasm	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	thyroid	other; neoplasm	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	thyroid	other; neoplasm	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2184C>T; p.Y728Y; 6:148540531-148540531	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3421G>A; p.V1141I; 6:148546087-148546087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2385G>A; p.T795T; 6:148543855-148543855	stomach	adenocarcinoma	Substitution - coding silent
c.3047C>T; p.A1016V; 6:148544517-148544517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3047C>T; p.A1016V; 6:148544517-148544517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.295G>A; p.D99N; 6:148440193-148440193	pancreas	carcinoma	Substitution - Missense
c.295G>A; p.D99N; 6:148440193-148440193	pancreas	carcinoma	Substitution - Missense
c.2052A>C; p.R684S; 6:148534858-148534858	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.295G>A; p.D99N; 6:148440193-148440193	pancreas	carcinoma	Substitution - Missense
c.1235A>G; p.D412G; 6:148525316-148525316	liver	carcinoma	Substitution - Missense
c.1235A>G; p.D412G; 6:148525316-148525316	liver	carcinoma	Substitution - Missense
c.1170_1171insG; p.E392fs*21; 6:148519854-148519855	pancreas	carcinoma; acinar_carcinoma	Insertion - Frameshift
c.3135A>G; p.S1045S; 6:148544605-148544605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1534C>T; p.R512C; 6:148531631-148531631	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.432A>G; p.K144K; 6:148471421-148471421	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1367C>T; p.S456L; 6:148527535-148527535	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2881C>T; p.H961Y; 6:148544351-148544351	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.480G>T; p.K160N; 6:148471469-148471469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3565A>G; p.I1189V; 6:148548379-148548379	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.231G>A; p.V77V; 6:148390208-148390208	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3172delC; p.W1060fs*16; 6:148544642-148544642	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3172delC; p.W1060fs*16; 6:148544642-148544642	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.157-2A>G; p.?; 6:148390132-148390132	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2655_2656delCT; p.S886fs*16; 6:148544125-148544126	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.885G>A; p.E295E; 6:148519569-148519569	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3319G>A; p.D1107N; 6:148544789-148544789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3415C>T; p.R1139W; 6:148546081-148546081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.838G>T; p.E280*; 6:148514432-148514432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.144G>T; p.V48V; 6:148343211-148343211	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3415C>T; p.R1139W; 6:148546081-148546081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1043G>A; p.R348Q; 6:148519727-148519727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.240G>C; p.R80S; 6:148390217-148390217	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1900C>T; p.Q634*; 6:148533936-148533936	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2651A>G; p.Q884R; 6:148544121-148544121	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2651A>G; p.Q884R; 6:148544121-148544121	thyroid	other; neoplasm	Substitution - Missense
c.3204A>G; p.T1068T; 6:148544674-148544674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1252C>T; p.L418L; 6:148525333-148525333	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1252C>T; p.L418L; 6:148525333-148525333	liver	carcinoma	Substitution - coding silent
c.3078C>T; p.P1026P; 6:148544548-148544548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1653C>T; p.Y551Y; 6:148532885-148532885	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2098A>T; p.N700Y; 6:148540445-148540445	breast	carcinoma	Substitution - Missense
c.3701C>T; p.A1234V; 6:148548515-148548515	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2636C>T; p.A879V; 6:148544106-148544106	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.569T>G; p.I190S; 6:148474164-148474164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1435G>T; p.G479C; 6:148531532-148531532	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.913G>A; p.A305T; 6:148519597-148519597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2270C>A; p.S757Y; 6:148543740-148543740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.S304S; 6:148519596-148519596	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2149C>T; p.L717L; 6:148540496-148540496	skin	malignant_melanoma	Substitution - coding silent
c.143T>C; p.V48A; 6:148343210-148343210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2579C>T; p.P860L; 6:148544049-148544049	pancreas	carcinoma	Substitution - Missense
c.2664C>T; p.V888V; 6:148544134-148544134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1734+4_1734+5delTC; p.?; 6:148532970-148532971	stomach	adenocarcinoma	Unknown
c.2218C>T; p.R740W; 6:148543688-148543688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2980G>T; p.E994*; 6:148544450-148544450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2218C>T; p.R740W; 6:148543688-148543688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2995G>A; p.G999R; 6:148544465-148544465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1379C>T; p.T460M; 6:148527547-148527547	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2168G>A; p.R723Q; 6:148540515-148540515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2168G>A; p.R723Q; 6:148540515-148540515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.316C>T; p.Q106*; 6:148440214-148440214	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.316C>T; p.Q106*; 6:148440214-148440214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1669G>A; p.G557R; 6:148532901-148532901	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1669G>A; p.G557R; 6:148532901-148532901	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1669G>A; p.G557R; 6:148532901-148532901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.316C>T; p.Q106*; 6:148440214-148440214	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2736G>T; p.E912D; 6:148544206-148544206	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.632_634delAGG; p.E212delE; 6:148487618-148487620	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.3326C>T; p.T1109M; 6:148544796-148544796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3171G>A; p.P1057P; 6:148544641-148544641	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1565G>A; p.S522N; 6:148532797-148532797	skin	malignant_melanoma	Substitution - Missense
c.2653G>T; p.D885Y; 6:148544123-148544123	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1157G>A; p.R386H; 6:148519841-148519841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1257C>T; p.H419H; 6:148525338-148525338	large_intestine; rectum	NS	Substitution - coding silent
c.2410G>A; p.V804M; 6:148543880-148543880	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2759G>A; p.R920H; 6:148544229-148544229	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1698C>T; p.T566T; 6:148532930-148532930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.342G>A; p.S114S; 6:148440363-148440363	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.918C>G; p.L306L; 6:148519602-148519602	thyroid	carcinoma	Substitution - coding silent
c.945T>C; p.L315L; 6:148519629-148519629	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2646G>T; p.L882L; 6:148544116-148544116	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.630C>G; p.L210L; 6:148487616-148487616	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.262_263insG; p.V89fs*13; 6:148390239-148390240	liver	carcinoma	Insertion - Frameshift
c.262_263insG; p.V89fs*13; 6:148390239-148390240	lung	carcinoid-endocrine_tumour	Insertion - Frameshift
c.262_263insG; p.V89fs*13; 6:148390239-148390240	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.492A>G; p.G164G; 6:148471481-148471481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.640G>A; p.E214K; 6:148487626-148487626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.492A>G; p.G164G; 6:148471481-148471481	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1672C>T; p.R558C; 6:148532904-148532904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.39_40insGAGCCC; p.P23_A24insEP; 6:148343106-148343107	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.2450C>T; p.S817F; 6:148543920-148543920	skin; extremity	malignant_melanoma	Substitution - Missense
c.3167G>A; p.R1056K; 6:148544637-148544637	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2690G>T; p.S897I; 6:148544160-148544160	pancreas	carcinoma	Substitution - Missense
c.1014C>T; p.S338S; 6:148519698-148519698	skin	malignant_melanoma	Substitution - coding silent
c.2599G>C; p.E867Q; 6:148544069-148544069	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2133C>T; p.L711L; 6:148540480-148540480	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.765G>C; p.S255S; 6:148514359-148514359	breast	carcinoma	Substitution - coding silent
c.2983C>T; p.R995C; 6:148544453-148544453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3733G>C; p.E1245Q; 6:148548547-148548547	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.228C>T; p.D76D; 6:148390205-148390205	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1419C>G; p.V473V; 6:148527587-148527587	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.714C>T; p.G238G; 6:148487700-148487700	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.920A>G; p.Y307C; 6:148519604-148519604	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2458C>T; p.R820W; 6:148543928-148543928	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.920A>G; p.Y307C; 6:148519604-148519604	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3423C>T; p.V1141V; 6:148546089-148546089	breast	carcinoma	Substitution - coding silent
c.2777A>G; p.Q926R; 6:148544247-148544247	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3423C>T; p.V1141V; 6:148546089-148546089	liver	carcinoma	Substitution - coding silent
c.2057T>G; p.V686G; 6:148534863-148534863	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.862G>A; p.G288S; 6:148514456-148514456	thyroid	other; neoplasm	Substitution - Missense
c.2357G>T; p.R786M; 6:148543827-148543827	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1261G>T; p.G421C; 6:148525342-148525342	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3611G>C; p.S1204T; 6:148548425-148548425	large_intestine; colon	NS	Substitution - Missense
c.956G>A; p.G319D; 6:148519640-148519640	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3608T>G; p.F1203C; 6:148548422-148548422	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3520G>A; p.V1174I; 6:148548334-148548334	pancreas	carcinoma	Substitution - Missense
c.3520G>A; p.V1174I; 6:148548334-148548334	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.272delA; p.Q91fs*52; 6:148390249-148390249	lung	carcinoid-endocrine_tumour	Deletion - Frameshift
c.3608T>G; p.F1203C; 6:148548422-148548422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1618A>G; p.K540E; 6:148532850-148532850	stomach	carcinoma; adenocarcinoma	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]