Entrez Gene

Basic Information
Gene ID	139285
Name	AMER1
Synonymous	APC membrane recruitment protein 1;AMER1;APC membrane recruitment protein 1
Definition	RP11-403E24.2\|Wilms tumor gene on the X chromosome protein\|Wilms tumor on the X\|adenomatous polyposis coli membrane recruitment 1\|family with sequence similarity 123B\|protein FAM123B
Position	Xq11.2
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

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

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

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The non-synonymous mutational pattern in 17 major cancer types.

The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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The ratio of the loss-of-function mutations over missense mutations is 0.57.

The copy number variations for various cancers

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There is no record for AMER1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1720C>T; p.R574W; 23:64191567-64191567	breast	carcinoma	Substitution - Missense
c.1720C>T; p.R574W; 23:64191567-64191567	skin	malignant_melanoma	Substitution - Missense
c.1720C>T; p.R574W; 23:64191567-64191567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.847G>C; p.E283Q; 23:64192440-64192440	breast	carcinoma	Substitution - Missense
c.1720C>T; p.R574W; 23:64191567-64191567	skin	malignant_melanoma	Substitution - Missense
c.1386A>G; p.E462E; 23:64191901-64191901	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1617C>A; p.F539L; 23:64191670-64191670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1430C>A; p.P477H; 23:64191857-64191857	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.787G>C; p.E263Q; 23:64192500-64192500	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1938G>A; p.R646R; 23:64191349-64191349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1922G>A; p.R641Q; 23:64191365-64191365	large_intestine; colon	adenoma	Substitution - Missense
c.1512C>T; p.A504A; 23:64191775-64191775	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1737G>T; p.E579D; 23:64191550-64191550	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1740C>T; p.A580A; 23:64191547-64191547	skin; leg	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.1117G>A; p.A373T; 23:64192170-64192170	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>A; p.R350K; 23:64192238-64192238	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.949A>G; p.T317A; 23:64192338-64192338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.103G>A; p.E35K; 23:64193184-64193184	breast	carcinoma	Substitution - Missense
c.1995C>G; p.G665G; 23:64191292-64191292	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1304G>T; p.G435V; 23:64191983-64191983	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.276G>T; p.K92N; 23:64193011-64193011	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.135C>T; p.S45S; 23:64193152-64193152	kidney	Wilms_tumour	Substitution - coding silent
c.1895A>T; p.E632V; 23:64191392-64191392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1384G>T; p.E462*; 23:64191903-64191903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1384G>T; p.E462*; 23:64191903-64191903	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.185G>A; p.G62D; 23:64193102-64193102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1234A>C; p.T412P; 23:64192053-64192053	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1384G>T; p.E462*; 23:64191903-64191903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1670_1671delAG; p.E557fs*22; 23:64191616-64191617	kidney	Wilms_tumour	Deletion - Frameshift
c.1670_1671delAG; p.E557fs*22; 23:64191616-64191617	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.382C>T; p.P128S; 23:64192905-64192905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>A; p.E198K; 23:64192695-64192695	urinary_tract; bladder	carcinoma	Substitution - Missense
c.438_439insT; p.V147fs*11; 23:64192848-64192849	kidney	Wilms_tumour	Insertion - Frameshift
c.438_439insT; p.V147fs*11; 23:64192848-64192849	kidney	Wilms_tumour; unilateral	Insertion - Frameshift
c.1756C>T; p.R586*; 23:64191531-64191531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1643C>T; p.S548F; 23:64191644-64191644	prostate	carcinoma	Substitution - Missense
c.1405G>T; p.E469*; 23:64191882-64191882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.228A>G; p.G76G; 23:64193059-64193059	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2200G>T; p.E734*; 23:64191087-64191087	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1979G>A; p.G660D; 23:64191308-64191308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1744G>T; p.E582*; 23:64191543-64191543	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1744G>T; p.E582*; 23:64191543-64191543	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1744G>T; p.E582*; 23:64191543-64191543	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.228A>G; p.G76G; 23:64193059-64193059	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1876C>T; p.R626*; 23:64191411-64191411	pancreas	carcinoma	Substitution - Nonsense
c.1269G>T; p.L423L; 23:64192018-64192018	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1876C>T; p.R626*; 23:64191411-64191411	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.780_781insA; p.P261fs*17; 23:64192506-64192507	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1889C>T; p.A630V; 23:64191398-64191398	breast	carcinoma	Substitution - Missense
c.1134T>C; p.D378D; 23:64192153-64192153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.526A>G; p.I176V; 23:64192761-64192761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.428G>T; p.C143F; 23:64192859-64192859	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1134T>C; p.D378D; 23:64192153-64192153	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2129C>T; p.S710F; 23:64191158-64191158	thyroid	other; neoplasm	Substitution - Missense
c.585G>T; p.K195N; 23:64192702-64192702	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.764G>A; p.C255Y; 23:64192523-64192523	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1648delC; p.P550fs*12; 23:64191639-64191639	kidney	Wilms_tumour	Deletion - Frameshift
c.1165G>T; p.E389*; 23:64192122-64192122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.331_332insCACA; p.S111fs*3; 23:64192955-64192956	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.899C>T; p.P300L; 23:64192388-64192388	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1106G>A; p.G369E; 23:64192181-64192181	stomach	adenocarcinoma	Substitution - Missense
c.28C>T; p.Q10*; 23:64193259-64193259	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.730G>T; p.E244*; 23:64192557-64192557	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.28C>T; p.Q10*; 23:64193259-64193259	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1626T>A; p.F542L; 23:64191661-64191661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.141C>T; p.S47S; 23:64193146-64193146	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.235A>G; p.K79E; 23:64193052-64193052	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.61C>A; p.R21S; 23:64193226-64193226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>A; p.A29T; 23:64193202-64193202	kidney	Wilms_tumour	Substitution - Missense
c.532C>T; p.R178C; 23:64192755-64192755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.419G>T; p.G140V; 23:64192868-64192868	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2104G>T; p.E702*; 23:64191183-64191183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.85G>A; p.A29T; 23:64193202-64193202	kidney	Wilms_tumour	Substitution - Missense
c.85G>A; p.A29T; 23:64193202-64193202	kidney	Wilms_tumour; unilateral	Substitution - Missense
c.664C>T; p.Q222*; 23:64192623-64192623	skin	malignant_melanoma	Substitution - Nonsense
c.1289_1289delC; p.P431fs*18; 23:64191998-64191998	kidney	Wilms_tumour; unilateral	Deletion - Frameshift
c.664C>T; p.Q222*; 23:64192623-64192623	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1591C>T; p.R531*; 23:64191696-64191696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1198_1199insA; p.E401fs*4; 23:64192088-64192089	soft_tissue; striated_muscle	rhabdomyosarcoma	Insertion - Frameshift
c.1826A>T; p.Y609F; 23:64191461-64191461	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1198_1199insA; p.E401fs*4; 23:64192088-64192089	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Insertion - Frameshift
c.597G>T; p.R199S; 23:64192690-64192690	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.721C>G; p.P241A; 23:64192566-64192566	breast	carcinoma	Substitution - Missense
c.1198_1199insA; p.E401fs*4; 23:64192088-64192089	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Insertion - Frameshift
c.1198_1199insA; p.E401fs*4; 23:64192088-64192089	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Insertion - Frameshift
c.1642T>C; p.S548P; 23:64191645-64191645	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1489C>T; p.R497*; 23:64191798-64191798	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 23:64191798-64191798	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 23:64191798-64191798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2138A>T; p.D713V; 23:64191149-64191149	NS	NS	Substitution - Missense
c.1489C>T; p.R497*; 23:64191798-64191798	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 23:64191798-64191798	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 23:64191798-64191798	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1489C>T; p.R497*; 23:64191798-64191798	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1633T>C; p.F545L; 23:64191654-64191654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1452_1476del25; p.E485fs*48; 23:64191811-64191835	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2078C>G; p.P693R; 23:64191209-64191209	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2283G>T; p.K761N; 23:64191004-64191004	liver	carcinoma	Substitution - Missense
c.2283G>T; p.K761N; 23:64191004-64191004	liver	carcinoma	Substitution - Missense
c.594G>T; p.E198D; 23:64192693-64192693	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.288C>A; p.H96Q; 23:64192999-64192999	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>T; p.E391*; 23:64192116-64192116	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1340G>T; p.G447V; 23:64191947-64191947	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1641C>T; p.S547S; 23:64191646-64191646	liver	carcinoma	Substitution - coding silent
c.1641C>T; p.S547S; 23:64191646-64191646	liver	carcinoma	Substitution - coding silent
c.314G>A; p.G105D; 23:64192973-64192973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.565C>T; p.Q189*; 23:64192722-64192722	kidney	Wilms_tumour; unilateral	Substitution - Nonsense
c.674G>T; p.R225I; 23:64192613-64192613	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1126G>A; p.D376N; 23:64192161-64192161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1471C>T; p.R491C; 23:64191816-64191816	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.927G>T; p.L309L; 23:64192360-64192360	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1058G>A; p.R353Q; 23:64192229-64192229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1684G>T; p.V562L; 23:64191603-64191603	liver	carcinoma	Substitution - Missense
c.1782C>T; p.H594H; 23:64191505-64191505	central_nervous_system; brain	glioma	Substitution - coding silent
c.1684G>T; p.V562L; 23:64191603-64191603	liver	carcinoma	Substitution - Missense
c.1531C>T; p.P511S; 23:64191756-64191756	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2320G>C; p.V774L; 23:64190967-64190967	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1777G>T; p.A593S; 23:64191510-64191510	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2221C>T; p.P741S; 23:64191066-64191066	skin	malignant_melanoma	Substitution - Missense
c.1185G>T; p.E395D; 23:64192102-64192102	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.924A>C; p.P308P; 23:64192363-64192363	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.374G>A; p.C125Y; 23:64192913-64192913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1210G>T; p.D404Y; 23:64192077-64192077	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2088G>C; p.R696S; 23:64191199-64191199	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.633C>A; p.A211A; 23:64192654-64192654	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.908G>A; p.G303D; 23:64192379-64192379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1103G>A; p.G368D; 23:64192184-64192184	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.133T>C; p.S45P; 23:64193154-64193154	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.908G>A; p.G303D; 23:64192379-64192379	ovary	other; neoplasm	Substitution - Missense
c.177C>G; p.L59L; 23:64193110-64193110	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.133T>C; p.S45P; 23:64193154-64193154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>T; p.E622*; 23:64191423-64191423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.519_520insT; p.S174fs*1; 23:64192767-64192768	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.519_520insT; p.S174fs*1; 23:64192767-64192768	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.714A>G; p.K238K; 23:64192573-64192573	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1069A>G; p.K357E; 23:64192218-64192218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1137C>T; p.D379D; 23:64192150-64192150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.876G>C; p.K292N; 23:64192411-64192411	kidney	Wilms_tumour	Substitution - Missense
c.1006_1007insAGGA; p.D336fs*43; 23:64192280-64192281	kidney	Wilms_tumour	Insertion - Frameshift
c.939delT; p.F313fs*4; 23:64192348-64192348	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1250C>T; p.P417L; 23:64192037-64192037	liver	carcinoma	Substitution - Missense
c.1250C>T; p.P417L; 23:64192037-64192037	liver	carcinoma	Substitution - Missense
c.135C>A; p.S45S; 23:64193152-64193152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1906A>C; p.R636R; 23:64191381-64191381	pancreas	carcinoma	Substitution - coding silent
c.519delT; p.F173fs*36; 23:64192768-64192768	large_intestine; colon	NS	Deletion - Frameshift
c.519delT; p.F173fs*36; 23:64192768-64192768	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.519delT; p.F173fs*36; 23:64192768-64192768	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1219G>T; p.E407*; 23:64192068-64192068	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1670A>T; p.E557V; 23:64191617-64191617	skin	malignant_melanoma	Substitution - Missense
c.1118C>T; p.A373V; 23:64192169-64192169	breast	carcinoma	Substitution - Missense
c.2110C>T; p.R704C; 23:64191177-64191177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.530G>A; p.R177H; 23:64192757-64192757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1987G>A; p.V663M; 23:64191300-64191300	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.724A>T; p.T242S; 23:64192563-64192563	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1591C>A; p.R531R; 23:64191696-64191696	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.456G>T; p.E152D; 23:64192831-64192831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.905A>G; p.N302S; 23:64192382-64192382	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1819G>T; p.E607*; 23:64191468-64191468	skin	malignant_melanoma	Substitution - Nonsense
c.519_519delT; p.F173fs*36; 23:64192768-64192768	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.519_519delT; p.F173fs*36; 23:64192768-64192768	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1789G>T; p.E597*; 23:64191498-64191498	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.629C>G; p.S210*; 23:64192658-64192658	kidney	Wilms_tumour	Substitution - Nonsense
c.629C>G; p.S210*; 23:64192658-64192658	kidney	Wilms_tumour	Substitution - Nonsense
c.1069delA; p.K357fs*7; 23:64192218-64192218	kidney	Wilms_tumour	Deletion - Frameshift
c.629C>G; p.S210*; 23:64192658-64192658	kidney	Wilms_tumour	Substitution - Nonsense
c.632C>T; p.A211V; 23:64192655-64192655	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1332T>A; p.S444S; 23:64191955-64191955	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2353+10G>T; p.?; 23:64190924-64190924	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.533G>A; p.R178H; 23:64192754-64192754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1058G>T; p.R353L; 23:64192229-64192229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2252_2253insC; p.E752fs*1; 23:64191034-64191035	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1156G>T; p.E386*; 23:64192131-64192131	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1150G>T; p.E384*; 23:64192137-64192137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2294C>T; p.A765V; 23:64190993-64190993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.223G>A; p.G75R; 23:64193064-64193064	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.634C>T; p.P212S; 23:64192653-64192653	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1724G>A; p.R575Q; 23:64191563-64191563	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.137C>T; p.S46L; 23:64193150-64193150	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.137C>T; p.S46L; 23:64193150-64193150	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1238C>T; p.A413V; 23:64192049-64192049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.771T>C; p.D257D; 23:64192516-64192516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour; unilateral	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.529C>T; p.R177C; 23:64192758-64192758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1763C>A; p.A588D; 23:64191524-64191524	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1570T>A; p.C524S; 23:64191717-64191717	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour; unilateral	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.344G>A; p.G115D; 23:64192943-64192943	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.446_447insGGG; p.G149_A150insG; 23:64192840-64192841	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - In frame
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.1_2415del2415; p.0?; 23:64186117-64193286	kidney	Wilms_tumour	Whole gene deletion
c.439G>T; p.V147L; 23:64192848-64192848	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.504C>T; p.G168G; 23:64192783-64192783	breast	carcinoma	Substitution - coding silent
c.1801C>T; p.R601*; 23:64191486-64191486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1849G>T; p.E617*; 23:64191438-64191438	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1801C>T; p.R601*; 23:64191486-64191486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1891C>A; p.R631R; 23:64191396-64191396	breast	carcinoma	Substitution - coding silent
c.2140C>G; p.Q714E; 23:64191147-64191147	breast	carcinoma	Substitution - Missense
c.1801C>T; p.R601*; 23:64191486-64191486	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1801C>T; p.R601*; 23:64191486-64191486	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1849G>T; p.E617*; 23:64191438-64191438	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1801C>T; p.R601*; 23:64191486-64191486	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2037G>T; p.R679R; 23:64191250-64191250	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1003C>G; p.Q335E; 23:64192284-64192284	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1358T>C; p.L453P; 23:64191929-64191929	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2037G>T; p.R679R; 23:64191250-64191250	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2293G>A; p.A765T; 23:64190994-64190994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1225C>T; p.L409L; 23:64192062-64192062	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.867_867delA; p.E291fs*3; 23:64192420-64192420	kidney	Wilms_tumour; bilateral	Deletion - Frameshift
c.877G>A; p.V293I; 23:64192410-64192410	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1921C>T; p.R641*; 23:64191366-64191366	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1921C>T; p.R641*; 23:64191366-64191366	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1345G>A; p.A449T; 23:64191942-64191942	central_nervous_system; brain	glioma	Substitution - Missense
c.297G>T; p.L99L; 23:64192990-64192990	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.679G>A; p.E227K; 23:64192608-64192608	skin	malignant_melanoma	Substitution - Missense
c.87C>T; p.A29A; 23:64193200-64193200	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206delA; p.D403fs*4; 23:64192081-64192081	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2099C>A; p.P700H; 23:64191188-64191188	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1610A>G; p.D537G; 23:64191677-64191677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.946G>A; p.V316M; 23:64192341-64192341	skin	malignant_melanoma	Substitution - Missense
c.1198G>T; p.E400*; 23:64192089-64192089	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.621C>T; p.H207H; 23:64192666-64192666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1072C>T; p.R358*; 23:64192215-64192215	kidney	Wilms_tumour	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.278G>T; p.S93I; 23:64193009-64193009	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1072C>T; p.R358*; 23:64192215-64192215	kidney	Wilms_tumour; unilateral	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	kidney	Wilms_tumour; unilateral	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	kidney	Wilms_tumour	Substitution - Nonsense
c.1072C>T; p.R358*; 23:64192215-64192215	kidney	Wilms_tumour	Substitution - Nonsense
c.1230G>A; p.W410*; 23:64192057-64192057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.989A>C; p.D330A; 23:64192298-64192298	breast	carcinoma	Substitution - Missense
c.2402G>A; p.C801Y; 23:64186130-64186130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1900C>T; p.R634C; 23:64191387-64191387	skin	malignant_melanoma	Substitution - Missense
c.1900C>T; p.R634C; 23:64191387-64191387	skin	malignant_melanoma	Substitution - Missense
c.1814G>A; p.G605D; 23:64191473-64191473	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1043delG; p.G348fs*16; 23:64192244-64192244	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1057C>T; p.R353*; 23:64192230-64192230	kidney	Wilms_tumour	Substitution - Nonsense
c.2284G>T; p.E762*; 23:64191003-64191003	liver	carcinoma	Substitution - Nonsense
c.2284G>T; p.E762*; 23:64191003-64191003	liver	carcinoma	Substitution - Nonsense
c.1057C>T; p.R353*; 23:64192230-64192230	kidney	Wilms_tumour	Substitution - Nonsense
c.719delC; p.S240fs*42; 23:64192568-64192568	liver	carcinoma	Deletion - Frameshift
c.1057C>T; p.R353*; 23:64192230-64192230	large_intestine; colon	adenoma	Substitution - Nonsense
c.1057C>T; p.R353*; 23:64192230-64192230	kidney	Wilms_tumour	Substitution - Nonsense
c.1057C>T; p.R353*; 23:64192230-64192230	kidney	Wilms_tumour	Substitution - Nonsense
c.1057C>T; p.R353*; 23:64192230-64192230	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1057C>T; p.R353*; 23:64192230-64192230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.868G>C; p.G290R; 23:64192419-64192419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1776G>A; p.E592E; 23:64191511-64191511	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1855C>T; p.H619Y; 23:64191432-64191432	skin	malignant_melanoma	Substitution - Missense
c.295C>A; p.L99M; 23:64192992-64192992	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1412A>G; p.Y471C; 23:64191875-64191875	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.643C>T; p.P215S; 23:64192644-64192644	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.397G>T; p.A133S; 23:64192890-64192890	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1459C>T; p.L487L; 23:64191828-64191828	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108_1109insG; p.E370fs*8; 23:64192178-64192179	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.233_234GC>T; p.S78fs*22; 23:64193053-64193054	kidney	Wilms_tumour	Complex - frameshift
c.1524C>A; p.F508L; 23:64191763-64191763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1108_1109insG; p.E370fs*8; 23:64192178-64192179	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.720T>C; p.S240S; 23:64192567-64192567	central_nervous_system; brain	glioma	Substitution - coding silent
c.50C>G; p.S17C; 23:64193237-64193237	urinary_tract; bladder	carcinoma	Substitution - Missense
c.50C>G; p.S17C; 23:64193237-64193237	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1228delT; p.W410fs*12; 23:64192059-64192059	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1644C>T; p.S548S; 23:64191643-64191643	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.675A>T; p.R225S; 23:64192612-64192612	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.245G>T; p.G82V; 23:64193042-64193042	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.751G>A; p.E251K; 23:64192536-64192536	skin	malignant_melanoma	Substitution - Missense
c.2188C>T; p.P730S; 23:64191099-64191099	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.210T>C; p.P70P; 23:64193077-64193077	central_nervous_system; brain	glioma	Substitution - coding silent
c.800C>T; p.S267L; 23:64192487-64192487	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.800C>T; p.S267L; 23:64192487-64192487	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.473A>C; p.K158T; 23:64192814-64192814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.785T>C; p.M262T; 23:64192502-64192502	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1637delT; p.L546fs*16; 23:64191650-64191650	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1637delT; p.L546fs*16; 23:64191650-64191650	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1195G>C; p.E399Q; 23:64192092-64192092	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1195G>C; p.E399Q; 23:64192092-64192092	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1000G>T; p.E334*; 23:64192287-64192287	kidney	Wilms_tumour	Substitution - Nonsense
c.629C>T; p.S210L; 23:64192658-64192658	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.19G>T; p.E7*; 23:64193268-64193268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1084delC; p.L362fs*2; 23:64192203-64192203	kidney	Wilms_tumour	Deletion - Frameshift
c.296T>C; p.L99P; 23:64192991-64192991	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1147G>T; p.E383*; 23:64192140-64192140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1524C>T; p.F508F; 23:64191763-64191763	breast	carcinoma	Substitution - coding silent
c.296T>C; p.L99P; 23:64192991-64192991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>C; p.E198Q; 23:64192695-64192695	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1302C>A; p.H434Q; 23:64191985-64191985	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1001A>G; p.E334G; 23:64192286-64192286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1621A>C; p.N541H; 23:64191666-64191666	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1490G>T; p.R497L; 23:64191797-64191797	pancreas	carcinoma	Substitution - Missense
c.1658C>T; p.A553V; 23:64191629-64191629	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1891C>T; p.R631*; 23:64191396-64191396	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1891C>T; p.R631*; 23:64191396-64191396	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1891C>T; p.R631*; 23:64191396-64191396	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2317C>A; p.L773M; 23:64190970-64190970	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2317C>A; p.L773M; 23:64190970-64190970	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2349T>C; p.F783F; 23:64190938-64190938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.224G>T; p.G75V; 23:64193063-64193063	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.703C>A; p.P235T; 23:64192584-64192584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1677A>T; p.E559D; 23:64191610-64191610	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2280G>A; p.E760E; 23:64191007-64191007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2339G>T; p.G780V; 23:64190948-64190948	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.478C>T; p.P160S; 23:64192809-64192809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.239G>T; p.G80V; 23:64193048-64193048	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1990A>T; p.M664L; 23:64191297-64191297	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1757G>A; p.R586Q; 23:64191530-64191530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1757G>A; p.R586Q; 23:64191530-64191530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1390G>A; p.A464T; 23:64191897-64191897	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1213G>A; p.D405N; 23:64192074-64192074	pancreas	other; adenoma	Substitution - Missense
c.1390G>A; p.A464T; 23:64191897-64191897	large_intestine; colon	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]