Entrez Gene

Basic Information
Gene ID	7403
Name	KDM6A
Synonymous	lysine (K)-specific demethylase 6A;KDM6A;lysine (K)-specific demethylase 6A
Definition	bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))\|histone demethylase UTX\|lysine-specific demethylase 6A\|ubiquitously transcribed tetratricopeptide repeat protein X-linked\|ubiquitously-transcribed TPR gene on the X
Position	Xp11.2
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 0.44.

The copy number variations for various cancers

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There is no record for KDM6A

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.495A>C; p.R165R; 23:45020661-45020661	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.514C>T; p.R172*; 23:45020680-45020680	central_nervous_system; brain	glioma; astrocytoma	Substitution - Nonsense
c.1425+2T>C; p.?; 23:45061421-45061421	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Unknown
c.1599G>A; p.L533L; 23:45063493-45063493	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2242C>T; p.P748S; 23:45069897-45069897	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3351_3353delTCT; p.L1119delL; 23:45083526-45083528	urinary_tract; bladder	carcinoma	Deletion - In frame
c.3120C>T; p.A1040A; 23:45079327-45079327	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.311T>G; p.L104R; 23:44961369-44961369	prostate	adenoma	Substitution - Missense
c.384+1G>T; p.0; 23:44974716-44974716	central_nervous_system; brain	glioma; astrocytoma	No detectable mRNA/protein
c.3189_3196delTGAATCTA; p.E1064fs*4; 23:45082620-45082627	prostate	carcinoma	Deletion - Frameshift
c.2104_2105insA; p.H702fs*28; 23:45069759-45069760	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.542C>T; p.T181I; 23:45020708-45020708	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2712_2717TAAAAA>TAAAAAA; p.G904fs; 23:45076706-45076711	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.2712_2717TAAAAA>TAAAAAA; p.G904fs; 23:45076706-45076711	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.2104_2105insA; p.H702fs*28; 23:45069759-45069760	urinary_tract; bladder	carcinoma	Insertion - Frameshift
c.3052A>T; p.K1018*; 23:45079259-45079259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3111G>A; p.Q1037Q; 23:45079318-45079318	prostate	adenoma	Substitution - coding silent
c.2959A>T; p.K987*; 23:45079166-45079166	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2959A>T; p.K987*; 23:45079166-45079166	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.334+1G>T; p.?; 23:44961393-44961393	urinary_tract; bladder	carcinoma	Unknown
c.2959A>T; p.K987*; 23:45079166-45079166	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2076G>A; p.Q692Q; 23:45069731-45069731	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3685C>T; p.Q1229*; 23:45089879-45089879	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4028T>G; p.F1343C; 23:45110101-45110101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3685C>T; p.Q1229*; 23:45089879-45089879	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3685C>T; p.Q1229*; 23:45089879-45089879	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4154A>G; p.Q1385R; 23:45110227-45110227	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3685C>T; p.Q1229*; 23:45089879-45089879	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3681G>A; p.W1227*; 23:45089875-45089875	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3804A>G; p.V1268V; 23:45090790-45090790	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.385-1G>C; p.?; 23:45010960-45010960	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.2702G>A; p.R901K; 23:45070357-45070357	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3837A>G; p.R1279R; 23:45090823-45090823	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.301C>G; p.H101D; 23:44961359-44961359	oesophagus	carcinoma	Substitution - Missense
c.4006-1G>A; p.?; 23:45110078-45110078	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.832G>T; p.E278*; 23:45053912-45053912	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1194G>T; p.Q398H; 23:45059466-45059466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3904C>T; p.Q1302*; 23:45107435-45107435	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.3835C>T; p.R1279*; 23:45090821-45090821	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.3941_3942insA; p.E1316fs*17; 23:45107472-45107473	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2029C>T; p.Q677*; 23:45069684-45069684	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3835C>T; p.R1279*; 23:45090821-45090821	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.3607G>A; p.A1203T; 23:45089801-45089801	central_nervous_system; brain	glioma	Substitution - Missense
c.223A>T; p.K75*; 23:44873985-44873985	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.3941_3942insA; p.E1316fs*17; 23:45107472-45107473	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2324C>G; p.S775*; 23:45069979-45069979	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2324C>G; p.S775*; 23:45069979-45069979	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2324C>G; p.S775*; 23:45069979-45069979	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3954A>T; p.I1318I; 23:45107485-45107485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2987A>G; p.H996R; 23:45079194-45079194	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.690delA; p.Q230fs*12; 23:45051744-45051744	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Deletion - Frameshift
c.894delG; p.V300fs*25; 23:45059024-45059024	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.894delG; p.V300fs*25; 23:45059024-45059024	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Deletion - Frameshift
c.4011G>T; p.E1337D; 23:45110084-45110084	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.384+1G>A; p.?; 23:44974716-44974716	urinary_tract; bladder	carcinoma	Unknown
c.2077_2084delGGGGCTGC; p.G693fs*34; 23:45069732-45069739	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.113delC; p.S40fs*2; 23:44873664-44873664	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.113delC; p.S40fs*2; 23:44873664-44873664	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.113delC; p.S40fs*2; 23:44873664-44873664	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.113delC; p.S40fs*2; 23:44873664-44873664	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1896_1897insA; p.N634fs*5; 23:45063790-45063791	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3470T>A; p.I1157K; 23:45085901-45085901	prostate	carcinoma	Substitution - Missense
c.4134_4138CAAAA>CAAAAA; p.Y1378fs; 23:45110207-45110211	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.4134_4138CAAAA>CAAAAA; p.Y1378fs; 23:45110207-45110211	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.3293T>A; p.L1098*; 23:45083468-45083468	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3293T>A; p.L1098*; 23:45083468-45083468	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2619_2620insA; p.N874fs*5; 23:45070274-45070275	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.2960A>G; p.K987R; 23:45079167-45079167	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.89C>T; p.A30V; 23:44873640-44873640	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.162-1G>A; p.?; 23:44873923-44873923	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.2007C>T; p.L669L; 23:45069662-45069662	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3182C>G; p.S1061*; 23:45082613-45082613	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3582G>A; p.W1194*; 23:45089776-45089776	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3582G>A; p.W1194*; 23:45089776-45089776	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3582G>A; p.W1194*; 23:45089776-45089776	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3582G>A; p.W1194*; 23:45089776-45089776	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.2845C>T; p.R949C; 23:45078412-45078412	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4161_4162delTG; p.Y1387fs*1; 23:45110234-45110235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.4161_4162delTG; p.Y1387fs*1; 23:45110234-45110235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2738_2739insT; p.L914fs*4; 23:45076732-45076733	pancreas	carcinoma; acinar_carcinoma	Insertion - Frameshift
c.1310C>T; p.A437V; 23:45060137-45060137	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.901C>T; p.Q301*; 23:45059031-45059031	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2531T>A; p.L844H; 23:45070186-45070186	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3337_3338insAT; p.V1113fs*8; 23:45083512-45083513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.901C>T; p.Q301*; 23:45059031-45059031	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3940G>T; p.G1314*; 23:45107471-45107471	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3940G>T; p.G1314*; 23:45107471-45107471	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.1556G>C; p.R519P; 23:45063450-45063450	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3452A>G; p.N1151S; 23:45085883-45085883	breast	carcinoma	Substitution - Missense
c.1556G>C; p.R519P; 23:45063450-45063450	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1556G>C; p.R519P; 23:45063450-45063450	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.815A>T; p.Y272F; 23:45053895-45053895	liver	carcinoma	Substitution - Missense
c.174G>A; p.G58G; 23:44873936-44873936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1861C>T; p.R621C; 23:45063755-45063755	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.349C>T; p.Q117*; 23:44974680-44974680	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3656G>A; p.W1219*; 23:45089850-45089850	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2599A>T; p.K867*; 23:45070254-45070254	bone; femur	chondrosarcoma	Substitution - Nonsense
c.2966T>A; p.L989*; 23:45079173-45079173	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.349C>T; p.Q117*; 23:44974680-44974680	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.349C>T; p.Q117*; 23:44974680-44974680	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2776_2777TC>T; p.S926fs; 23:45076770-45076771	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.2776_2777TC>T; p.S926fs; 23:45076770-45076771	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.3942delA; p.E1316fs*40; 23:45107473-45107473	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3259A>G; p.N1087D; 23:45082764-45082764	breast	carcinoma	Substitution - Missense
c.646G>T; p.E216*; 23:45037681-45037681	oesophagus	carcinoma	Substitution - Nonsense
c.3638G>T; p.R1213L; 23:45089832-45089832	central_nervous_system; thalamus	glioma; astrocytoma_Grade_II	Substitution - Missense
c.3646G>A; p.D1216N; 23:45089840-45089840	pancreas	carcinoma	Substitution - Missense
c.2289C>T; p.S763S; 23:45069944-45069944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3646G>A; p.D1216N; 23:45089840-45089840	oesophagus	carcinoma	Substitution - Missense
c.3886_3895del10; p.L1297fs*1; 23:45107417-45107426	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.1646G>C; p.R549T; 23:45063540-45063540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.353G>A; p.R118K; 23:44974684-44974684	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2311G>T; p.G771C; 23:45069966-45069966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3917T>C; p.L1306S; 23:45107448-45107448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4138_4139insA; p.M1380fs*9; 23:45110211-45110212	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - Frameshift
c.975-1G>T; p.0; 23:45059246-45059246	salivary_gland	carcinoma; adenoid_cystic_carcinoma	No detectable mRNA/protein
c.1364_1365insG; p.S456fs*29; 23:45061358-45061359	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3253G>A; p.G1085R; 23:45082758-45082758	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1859A>T; p.N620I; 23:45063753-45063753	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.975-1G>T; p.0; 23:45059246-45059246	large_intestine; colon	carcinoma; adenocarcinoma	No detectable mRNA/protein
c.975-1G>T; p.0; 23:45059246-45059246	kidney	carcinoma; renal_cell_carcinoma	No detectable mRNA/protein
c.975-1G>T; p.0; 23:45059246-45059246	kidney	carcinoma; renal_cell_carcinoma	No detectable mRNA/protein
c.975-1G>T; p.0; 23:45059246-45059246	kidney	carcinoma; renal_cell_carcinoma	No detectable mRNA/protein
c.3253G>A; p.G1085R; 23:45082758-45082758	stomach	adenocarcinoma	Substitution - Missense
c.3341C>A; p.S1114*; 23:45083516-45083516	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2997A>C; p.E999D; 23:45079204-45079204	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3341C>A; p.S1114*; 23:45083516-45083516	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1787delA; p.N596fs*3; 23:45063681-45063681	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Deletion - Frameshift
c.943G>C; p.E315Q; 23:45059073-45059073	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3805C>T; p.P1269S; 23:45090791-45090791	skin	malignant_melanoma	Substitution - Missense
c.4176+2T>C; p.?; 23:45110251-45110251	pancreas	carcinoma	Unknown
c.781G>C; p.D261H; 23:45053861-45053861	breast	carcinoma	Substitution - Missense
c.3769G>T; p.E1257*; 23:45090755-45090755	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.2889G>C; p.P963P; 23:45078456-45078456	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1105C>T; p.Q369*; 23:45059377-45059377	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2019C>T; p.G673G; 23:45069674-45069674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1105C>T; p.Q369*; 23:45059377-45059377	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3336C>T; p.V1112V; 23:45083511-45083511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1105C>T; p.Q369*; 23:45059377-45059377	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.2548G>T; p.G850W; 23:45070203-45070203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3420_3421GA>AC; p.S1141R; 23:45083595-45083596	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.334G>A; p.A112T; 23:44961392-44961392	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3416delC; p.P1139fs*19; 23:45083591-45083591	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.2358A>G; p.G786G; 23:45070013-45070013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1663C>T; p.Q555*; 23:45063557-45063557	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1663C>T; p.Q555*; 23:45063557-45063557	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3060C>T; p.I1020I; 23:45079267-45079267	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4009G>T; p.E1337*; 23:45110082-45110082	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1663C>T; p.Q555*; 23:45063557-45063557	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2833-2A>G; p.?; 23:45078398-45078398	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3764G>T; p.R1255L; 23:45090750-45090750	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1663C>T; p.Q555*; 23:45063557-45063557	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1663C>T; p.Q555*; 23:45063557-45063557	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1663C>T; p.Q555*; 23:45063557-45063557	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.49_51delGCT; p.A17delA; 23:44873600-44873602	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.2880T>G; p.C960W; 23:45078447-45078447	prostate	adenoma	Substitution - Missense
c.3172A>G; p.K1058E; 23:45082603-45082603	liver	carcinoma	Substitution - Missense
c.450_451insA; p.A152fs*9; 23:45020616-45020617	prostate	adenoma	Insertion - Frameshift
c.3317T>G; p.L1106R; 23:45083492-45083492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3479G>T; p.G1160V; 23:45085910-45085910	prostate	carcinoma	Substitution - Missense
c.3143G>A; p.R1048K; 23:45079350-45079350	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3014delT; p.L1005fs*43; 23:45079221-45079221	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Deletion - Frameshift
c.2443G>A; p.V815I; 23:45070098-45070098	prostate	carcinoma	Substitution - Missense
c.1268G>T; p.W423L; 23:45060095-45060095	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2995G>T; p.E999*; 23:45079202-45079202	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2995G>T; p.E999*; 23:45079202-45079202	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2995G>T; p.E999*; 23:45079202-45079202	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4161_4162delTG; p.Y1387fs*1; 23:45110234-45110235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.619+3delA; p.?; 23:45034988-45034988	urinary_tract; bladder	carcinoma	Unknown
c.948A>T; p.A316A; 23:45059078-45059078	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2911C>T; p.R971C; 23:45078478-45078478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2938_2938+1GG>TT; p.?; 23:45078505-45078506	lung	carcinoma; adenocarcinoma	Unknown
c.3154G>T; p.E1052*; 23:45082585-45082585	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3517T>A; p.Y1173N; 23:45085948-45085948	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1077_1078insG; p.T360fs*4; 23:45059349-45059350	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - Frameshift
c.3517T>A; p.Y1173N; 23:45085948-45085948	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3517T>A; p.Y1173N; 23:45085948-45085948	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3519_3520insT; p.W1174fs*6; 23:45085950-45085951	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.439C>T; p.Q147*; 23:45011015-45011015	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3472A>C; p.N1158H; 23:45085903-45085903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1752G>A; p.T584T; 23:45063646-45063646	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1246C>T; p.L416F; 23:45060073-45060073	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1655G>A; p.S552N; 23:45063549-45063549	parathyroid	adenoma	Substitution - Missense
c.3341C>T; p.S1114L; 23:45083516-45083516	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2313T>G; p.G771G; 23:45069968-45069968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1528-1G>C; p.?; 23:45063421-45063421	urinary_tract; bladder	carcinoma	Unknown
c.1528-1G>C; p.?; 23:45063421-45063421	urinary_tract; bladder	carcinoma	Unknown
c.3341C>T; p.S1114L; 23:45083516-45083516	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3341C>T; p.S1114L; 23:45083516-45083516	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1528-1G>C; p.?; 23:45063421-45063421	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.3154_3155insA; p.R1054fs*5; 23:45082585-45082586	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - Frameshift
c.2122G>T; p.G708*; 23:45069777-45069777	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2122G>T; p.G708*; 23:45069777-45069777	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2122G>T; p.G708*; 23:45069777-45069777	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1999C>T; p.Q667*; 23:45069654-45069654	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.515G>A; p.R172Q; 23:45020681-45020681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1178G>A; p.R393Q; 23:45059450-45059450	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.328C>T; p.P110S; 23:44961386-44961386	oesophagus	carcinoma	Substitution - Missense
c.1414C>T; p.Q472*; 23:45061408-45061408	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2894A>C; p.N965T; 23:45078461-45078461	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2293G>T; p.G765*; 23:45069948-45069948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3736+1G>A; p.?; 23:45089931-45089931	endometrium	carcinoma; adenocarcinoma	Unknown
c.2894A>C; p.N965T; 23:45078461-45078461	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3337G>T; p.V1113L; 23:45083512-45083512	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3879-2A>T; p.?; 23:45107408-45107408	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1555C>T; p.R519*; 23:45063449-45063449	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3737-2A>G; p.?; 23:45090721-45090721	liver	carcinoma	Unknown
c.2112_2121del10; p.T705fs*7; 23:45069767-45069776	urinary_tract; bladder	carcinoma	Deletion - Frameshift
c.2031G>A; p.Q677Q; 23:45069686-45069686	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2112_2121del10; p.T705fs*7; 23:45069767-45069776	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.185T>C; p.F62S; 23:44873947-44873947	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.226-2A>G; p.?; 23:44961282-44961282	urinary_tract; bladder	carcinoma	Unknown
c.226-2A>G; p.?; 23:44961282-44961282	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.339A>G; p.L113L; 23:44974670-44974670	liver	carcinoma	Substitution - coding silent
c.3536_3548+1delACTTCTGTGAAAAG; p.?; 23:45085967-45085980	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.339A>G; p.L113L; 23:44974670-44974670	liver	carcinoma	Substitution - coding silent
c.378C>G; p.Y126*; 23:44974709-44974709	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.378C>G; p.Y126*; 23:44974709-44974709	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3937G>A; p.A1313T; 23:45107468-45107468	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3338_3342delTATCA; p.V1113fs*36; 23:45083513-45083517	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.378C>G; p.Y126*; 23:44974709-44974709	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2578G>T; p.E860*; 23:45070233-45070233	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3338_3339insGTCGT; p.A1115fs*7; 23:45083513-45083514	breast	carcinoma; basal_(triple-negative)_carcinoma	Insertion - Frameshift
c.3638G>A; p.R1213Q; 23:45089832-45089832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1840_1841insC; p.L615fs*6; 23:45063734-45063735	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.3578G>A; p.W1193*; 23:45089772-45089772	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3763C>T; p.R1255W; 23:45090749-45090749	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3763C>T; p.R1255W; 23:45090749-45090749	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3763C>T; p.R1255W; 23:45090749-45090749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.975T>C; p.G325G; 23:45059247-45059247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2313T>C; p.G771G; 23:45069968-45069968	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.855G>T; p.Q285H; 23:45053935-45053935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2313T>C; p.G771G; 23:45069968-45069968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2587C>T; p.Q863*; 23:45070242-45070242	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.3668G>A; p.G1223D; 23:45089862-45089862	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3668G>A; p.G1223D; 23:45089862-45089862	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2378G>C; p.G793A; 23:45070033-45070033	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3668G>A; p.G1223D; 23:45089862-45089862	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2670C>G; p.Y890*; 23:45070325-45070325	soft_tissue; blood_vessel	angiosarcoma	Substitution - Nonsense
c.2529C>A; p.S843R; 23:45070184-45070184	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.959C>T; p.T320I; 23:45059089-45059089	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2717_2718insA; p.N906fs*5; 23:45076711-45076712	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - Frameshift
c.4124T>C; p.L1375P; 23:45110197-45110197	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.2124A>G; p.G708G; 23:45069779-45069779	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.711T>G; p.L237L; 23:45051765-45051765	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.654+2T>G; p.?; 23:45037691-45037691	breast	carcinoma	Unknown
c.884C>G; p.S295*; 23:45059014-45059014	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.884C>G; p.S295*; 23:45059014-45059014	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.394delT; p.L133fs*47; 23:45010970-45010970	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.792C>T; p.T264T; 23:45053872-45053872	pancreas	carcinoma	Substitution - coding silent
c.792C>T; p.T264T; 23:45053872-45053872	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2076_2077insG; p.A694fs*36; 23:45069731-45069732	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.902A>G; p.Q301R; 23:45059032-45059032	liver	carcinoma	Substitution - Missense
c.902A>G; p.Q301R; 23:45059032-45059032	liver	carcinoma	Substitution - Missense
c.3304G>A; p.E1102K; 23:45083479-45083479	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3579G>A; p.W1193*; 23:45089773-45089773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1841_1844delCACT; p.T616fs*8; 23:45063735-45063738	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.3579G>A; p.W1193*; 23:45089773-45089773	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3319C>T; p.P1107S; 23:45083494-45083494	skin	malignant_melanoma	Substitution - Missense
c.902A>G; p.Q301R; 23:45059032-45059032	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3304G>A; p.E1102K; 23:45083479-45083479	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3304G>A; p.E1102K; 23:45083479-45083479	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3304G>A; p.E1102K; 23:45083479-45083479	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3929T>C; p.L1310P; 23:45107460-45107460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3929T>C; p.L1310P; 23:45107460-45107460	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3929T>C; p.L1310P; 23:45107460-45107460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3856C>T; p.P1286S; 23:45090842-45090842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2897C>G; p.P966R; 23:45078464-45078464	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2897C>G; p.P966R; 23:45078464-45078464	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2897C>G; p.P966R; 23:45078464-45078464	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3929T>C; p.L1310P; 23:45107460-45107460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3900G>A; p.L1300L; 23:45107431-45107431	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.494G>A; p.R165Q; 23:45020660-45020660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3717G>T; p.W1239C; 23:45089911-45089911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3677_3678insT; p.W1227fs*24; 23:45089871-45089872	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.3220A>G; p.R1074G; 23:45082725-45082725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3220A>G; p.R1074G; 23:45082725-45082725	kidney	carcinoma	Substitution - Missense
c.3220A>G; p.R1074G; 23:45082725-45082725	kidney	carcinoma	Substitution - Missense
c.2355G>A; p.M785I; 23:45070010-45070010	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.560T>G; p.L187*; 23:45020726-45020726	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.493C>T; p.R165*; 23:45020659-45020659	oesophagus	carcinoma	Substitution - Nonsense
c.3961G>T; p.G1321W; 23:45107492-45107492	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.493C>T; p.R165*; 23:45020659-45020659	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.560T>G; p.L187*; 23:45020726-45020726	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.560T>G; p.L187*; 23:45020726-45020726	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3868G>A; p.E1290K; 23:45090854-45090854	pancreas	carcinoma	Substitution - Missense
c.2030A>G; p.Q677R; 23:45069685-45069685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3737-6_3737-5delTC; p.?; 23:45090717-45090718	stomach	adenocarcinoma	Unknown
c.4205G>C; p.*1402S; 23:45111410-45111410	liver	carcinoma; hepatocellular_carcinoma	Nonstop extension
c.4129C>T; p.Q1377*; 23:45110202-45110202	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4129C>T; p.Q1377*; 23:45110202-45110202	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4034delC; p.T1345fs*11; 23:45110107-45110107	prostate	adenoma	Deletion - Frameshift
c.4005+1G>T; p.?; 23:45107537-45107537	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Unknown
c.4129C>T; p.Q1377*; 23:45110202-45110202	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1_4206del4206; p.0?; 23:44905136-45111411	pancreas	carcinoma; ductal_carcinoma	Whole gene deletion
c.3209+3delAAGTCATT; p.?; 23:45082643-45082650	kidney	carcinoma	Unknown
c.3209+3delAAGTCATT; p.?; 23:45082643-45082650	kidney	carcinoma	Unknown
c.4001G>A; p.C1334Y; 23:45107532-45107532	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1_4206del4206; p.0?; 23:44905136-45111411	oesophagus	carcinoma; squamous_cell_carcinoma	Whole gene deletion
c.1125C>T; p.Y375Y; 23:45059397-45059397	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1_4206del4206; p.0?; 23:44905136-45111411	breast	carcinoma; ductal_carcinoma	Whole gene deletion
c.1125C>T; p.Y375Y; 23:45059397-45059397	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1_4206del4206; p.0?; 23:44905136-45111411	breast	carcinoma; ductal_carcinoma	Whole gene deletion
c.1_4206del4206; p.0?; 23:44905136-45111411	breast	carcinoma; ductal_carcinoma	Whole gene deletion
c.635C>T; p.A212V; 23:45037670-45037670	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4124delT; p.L1375fs*9; 23:45110197-45110197	urinary_tract; bladder	carcinoma	Deletion - Frameshift
c.635C>T; p.A212V; 23:45037670-45037670	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.3498G>A; p.W1166*; 23:45085929-45085929	pancreas	carcinoma	Substitution - Nonsense
c.1621C>T; p.Q541*; 23:45063515-45063515	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1621C>T; p.Q541*; 23:45063515-45063515	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.1621C>T; p.Q541*; 23:45063515-45063515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1962T>C; p.P654P; 23:45069617-45069617	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3317T>C; p.L1106P; 23:45083492-45083492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3317T>C; p.L1106P; 23:45083492-45083492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.997C>A; p.Q333K; 23:45059269-45059269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3317T>C; p.L1106P; 23:45083492-45083492	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.571C>T; p.Q191*; 23:45034937-45034937	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3502G>T; p.V1168F; 23:45085933-45085933	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2264C>T; p.T755M; 23:45069919-45069919	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1444G>A; p.A482T; 23:45062665-45062665	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3769G>A; p.E1257K; 23:45090755-45090755	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2090delA; p.N697fs*18; 23:45069745-45069745	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.998A>G; p.Q333R; 23:45059270-45059270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2090delA; p.N697fs*18; 23:45069745-45069745	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3598C>T; p.L1200F; 23:45089792-45089792	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3946G>C; p.E1316Q; 23:45107477-45107477	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3945_3946insA; p.E1316fs*17; 23:45107476-45107477	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3115C>G; p.Q1039E; 23:45079322-45079322	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.994A>T; p.N332Y; 23:45059266-45059266	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3434G>A; p.G1145D; 23:45085865-45085865	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4176+1G>C; p.?; 23:45110250-45110250	breast	carcinoma	Unknown
c.3434G>A; p.G1145D; 23:45085865-45085865	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1531A>T; p.R511*; 23:45063425-45063425	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.620-5T>G; p.?; 23:45037650-45037650	kidney	other; neoplasm	Unknown
c.2929C>A; p.L977I; 23:45078496-45078496	kidney	carcinoma	Substitution - Missense
c.2929C>A; p.L977I; 23:45078496-45078496	kidney	carcinoma	Substitution - Missense
c.869_870insT; p.G291fs*22; 23:45053949-45053950	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.3337G>C; p.V1113L; 23:45083512-45083512	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3334_3335insTC; p.V1113fs*8; 23:45083509-45083510	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.3700T>G; p.C1234G; 23:45089894-45089894	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2814A>T; p.P938P; 23:45076808-45076808	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3150A>G; p.E1050E; 23:45082581-45082581	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1831C>T; p.Q611*; 23:45063725-45063725	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Nonsense
c.3700T>G; p.C1234G; 23:45089894-45089894	thyroid	other; neoplasm	Substitution - Missense
c.1831C>T; p.Q611*; 23:45063725-45063725	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Nonsense
c.2930T>C; p.L977P; 23:45078497-45078497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3930C>A; p.L1310L; 23:45107461-45107461	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1819G>A; p.V607M; 23:45063713-45063713	pancreas	carcinoma	Substitution - Missense
c.3930C>A; p.L1310L; 23:45107461-45107461	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1819G>A; p.V607M; 23:45063713-45063713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2311G>C; p.G771R; 23:45069966-45069966	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2930T>C; p.L977P; 23:45078497-45078497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3859A>T; p.K1287*; 23:45090845-45090845	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.2177C>A; p.T726K; 23:45069832-45069832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2177C>A; p.T726K; 23:45069832-45069832	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3035G>A; p.W1012*; 23:45079242-45079242	soft_tissue; blood_vessel	angiosarcoma	Substitution - Nonsense
c.2832+1G>A; p.?; 23:45076827-45076827	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.2832+1G>A; p.?; 23:45076827-45076827	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2832+1G>A; p.?; 23:45076827-45076827	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.4005+2T>G; p.?; 23:45107538-45107538	liver	carcinoma	Unknown
c.2777delC; p.S926fs*11; 23:45076771-45076771	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.4005+2T>G; p.?; 23:45107538-45107538	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.3445_3446delAA; p.N1149fs*1; 23:45085876-45085877	kidney	carcinoma	Deletion - Frameshift
c.3445_3446delAA; p.N1149fs*1; 23:45085876-45085877	kidney	carcinoma	Deletion - Frameshift
c.1993C>T; p.P665S; 23:45069648-45069648	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4177-1G>A; p.?; 23:45111381-45111381	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3768C>G; p.Y1256*; 23:45090754-45090754	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3768C>G; p.Y1256*; 23:45090754-45090754	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3827A>G; p.N1276S; 23:45090813-45090813	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3004A>G; p.T1002A; 23:45079211-45079211	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.736delT; p.L246fs*4; 23:45051790-45051790	breast	carcinoma	Deletion - Frameshift
c.3229G>T; p.G1077*; 23:45082734-45082734	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.516A>G; p.R172R; 23:45020682-45020682	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3540C>A; p.F1180L; 23:45085971-45085971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2657C>A; p.S886Y; 23:45070312-45070312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2807T>C; p.L936S; 23:45076801-45076801	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2857_2858delTT; p.F953fs*25; 23:45078424-45078425	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.3520_3521insT; p.W1174fs*6; 23:45085951-45085952	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.661T>C; p.Y221H; 23:45051715-45051715	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2683G>T; p.E895*; 23:45070338-45070338	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3809T>C; p.M1270T; 23:45090795-45090795	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2705A>G; p.N902S; 23:45076699-45076699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3758T>G; p.V1253G; 23:45090744-45090744	breast	carcinoma	Substitution - Missense
c.649A>G; p.T217A; 23:45037684-45037684	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3356T>C; p.L1119P; 23:45083531-45083531	breast	carcinoma	Substitution - Missense
c.1065G>A; p.W355*; 23:45059337-45059337	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.443+6T>C; p.?; 23:45011025-45011025	skin; arm	malignant_melanoma	Unknown
c.1576G>T; p.G526W; 23:45063470-45063470	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2588A>G; p.Q863R; 23:45070243-45070243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3669C>T; p.G1223G; 23:45089863-45089863	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3669C>T; p.G1223G; 23:45089863-45089863	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3799A>G; p.I1267V; 23:45090785-45090785	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.2833-1G>A; p.?; 23:45078399-45078399	salivary_gland; mouth_roof	carcinoma; adenoid_cystic_carcinoma	Unknown
c.378C>T; p.Y126Y; 23:44974709-44974709	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.378C>T; p.Y126Y; 23:44974709-44974709	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2713delA; p.N906fs*31; 23:45076707-45076707	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3575C>T; p.S1192F; 23:45089769-45089769	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4176+1G>A; p.?; 23:45110250-45110250	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1213C>T; p.P405S; 23:45060040-45060040	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4176+1G>A; p.?; 23:45110250-45110250	prostate	carcinoma; adenocarcinoma	Unknown
c.389C>A; p.A130D; 23:45010965-45010965	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.502G>T; p.E168*; 23:45020668-45020668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2654_2663del10; p.M885fs*10; 23:45070309-45070318	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.2654_2663del10; p.M885fs*10; 23:45070309-45070318	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.2654_2663del10; p.M885fs*10; 23:45070309-45070318	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.40_42delGCC; p.A17delA; 23:44873591-44873593	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.655-1G>A; p.?; 23:45051708-45051708	skin; mucosal	malignant_melanoma	Unknown
c.300T>C; p.G100G; 23:44961358-44961358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1509C>G; p.V503V; 23:45062730-45062730	breast	carcinoma	Substitution - coding silent
c.3419G>A; p.G1140E; 23:45083594-45083594	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1544T>C; p.V515A; 23:45063438-45063438	skin	malignant_melanoma	Substitution - Missense
c.3337G>A; p.V1113I; 23:45083512-45083512	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3419G>A; p.G1140E; 23:45083594-45083594	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4005+1G>C; p.?; 23:45107537-45107537	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1961C>G; p.P654R; 23:45069616-45069616	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3614T>G; p.V1205G; 23:45089808-45089808	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4012G>T; p.V1338F; 23:45110085-45110085	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4012G>T; p.V1338F; 23:45110085-45110085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.963G>A; p.W321*; 23:45059093-45059093	liver	carcinoma	Substitution - Nonsense
c.3397C>T; p.Q1133*; 23:45083572-45083572	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3614T>G; p.V1205G; 23:45089808-45089808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3397C>T; p.Q1133*; 23:45083572-45083572	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.963G>A; p.W321*; 23:45059093-45059093	liver	carcinoma	Substitution - Nonsense
c.3397C>T; p.Q1133*; 23:45083572-45083572	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4012G>T; p.V1338F; 23:45110085-45110085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.1616C>G; p.S539C; 23:45063510-45063510	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1007A>G; p.D336G; 23:45059279-45059279	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1007A>G; p.D336G; 23:45059279-45059279	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3879-1G>A; p.?; 23:45107409-45107409	urinary_tract; bladder	carcinoma	Unknown
c.3022_3050del29; p.A1008fs*7; 23:45079229-45079257	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1482G>A; p.M494I; 23:45062703-45062703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1007A>G; p.D336G; 23:45059279-45059279	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3634C>T; p.Q1212*; 23:45089828-45089828	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2302A>G; p.K768E; 23:45069957-45069957	thyroid	carcinoma	Substitution - Missense
c.3060C>G; p.I1020M; 23:45079267-45079267	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.443+5G>A; p.?; 23:45011024-45011024	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.2550G>C; p.G850G; 23:45070205-45070205	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1282C>T; p.P428S; 23:45060109-45060109	pancreas	carcinoma	Substitution - Missense
c.1834C>T; p.R612*; 23:45063728-45063728	kidney	carcinoma	Substitution - Nonsense
c.1834C>T; p.R612*; 23:45063728-45063728	kidney	carcinoma	Substitution - Nonsense
c.2338C>A; p.L780I; 23:45069993-45069993	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2319A>G; p.L773L; 23:45069974-45069974	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3276delT; p.D1092fs*12; 23:45082781-45082781	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.1906_1909delCTAT; p.S637fs*53; 23:45063800-45063803	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.1577G>A; p.G526E; 23:45063471-45063471	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.997C>T; p.Q333*; 23:45059269-45059269	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.997C>T; p.Q333*; 23:45059269-45059269	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.618_619+2delAAGT; p.?; 23:45034984-45034987	breast	carcinoma	Unknown
c.618_619+2delAAGT; p.?; 23:45034984-45034987	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.233G>A; p.R78H; 23:44961291-44961291	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.576A>G; p.L192L; 23:45034942-45034942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.997C>T; p.Q333*; 23:45059269-45059269	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.618_619+2delAAGT; p.?; 23:45034984-45034987	breast	carcinoma	Unknown
c.997C>T; p.Q333*; 23:45059269-45059269	pancreas	carcinoma	Substitution - Nonsense
c.1460T>G; p.L487*; 23:45062681-45062681	liver	carcinoma	Substitution - Nonsense
c.1793_1794delTA; p.I598fs*6; 23:45063687-45063688	endometrium	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3571G>T; p.G1191C; 23:45089765-45089765	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.117delC; p.S40fs*2; 23:44873668-44873668	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2162delC; p.S721fs*1; 23:45069817-45069817	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.3023C>A; p.A1008E; 23:45079230-45079230	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3637C>T; p.R1213*; 23:45089831-45089831	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Nonsense
c.3144_3144+3delAGTA; p.?; 23:45079351-45079354	urinary_tract; bladder	carcinoma	Unknown
c.3144_3144+3delAGTA; p.?; 23:45079351-45079354	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1547_1548insA; p.Q517fs*9; 23:45063441-45063442	breast	carcinoma	Insertion - Frameshift
c.1789C>T; p.H597Y; 23:45063683-45063683	skin	malignant_melanoma	Substitution - Missense
c.226-6delT; p.?; 23:44961278-44961278	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.3836G>A; p.R1279Q; 23:45090822-45090822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3646G>T; p.D1216Y; 23:45089840-45089840	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3766T>C; p.Y1256H; 23:45090752-45090752	breast	carcinoma	Substitution - Missense
c.3836G>A; p.R1279Q; 23:45090822-45090822	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3836G>A; p.R1279Q; 23:45090822-45090822	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.890T>C; p.I297T; 23:45059020-45059020	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.329C>G; p.P110R; 23:44961387-44961387	breast	carcinoma	Substitution - Missense
c.2128C>T; p.Q710*; 23:45069783-45069783	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1937G>A; p.G646D; 23:45069592-45069592	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4074C>A; p.C1358*; 23:45110147-45110147	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2312G>A; p.G771D; 23:45069967-45069967	kidney	carcinoma	Substitution - Missense
c.2312G>A; p.G771D; 23:45069967-45069967	kidney	carcinoma	Substitution - Missense
c.2683G>A; p.E895K; 23:45070338-45070338	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1661C>T; p.S554F; 23:45063555-45063555	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3725G>T; p.G1242V; 23:45089919-45089919	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.3725G>T; p.G1242V; 23:45089919-45089919	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	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]