Entrez Gene

Basic Information
Gene ID	7799
Name	PRDM2
Synonymous	PR domain containing 2, with ZNF domain;PRDM2;PR domain containing 2, with ZNF domain
Definition	GATA-3 binding protein G3B\|GATA-3-binding protein G3B\|MTE-binding protein\|PR domain zinc finger protein 2\|PR domain-containing protein 2\|lysine N-methyltransferase 8\|retinoblastoma protein-binding zinc finger protein\|retinoblastoma protein-interacting zin
Position	1p36.21
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.17.

The copy number variations for various cancers

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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1783T>G; p.L595V; 1:13779578-13779578	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.F390F; 1:13778965-13778965	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.190delA; p.R66fs*37; 1:13732841-13732841	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3989C>T; p.T1330I; 1:13781784-13781784	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4401T>G; p.I1467M; 1:13782196-13782196	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4241C>A; p.S1414*; 1:13782036-13782036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1798_1801delTGTC; p.L601fs*12; 1:13779593-13779596	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1232G>A; p.R411H; 1:13779027-13779027	liver	carcinoma	Substitution - Missense
c.4235T>C; p.M1412T; 1:13782030-13782030	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4943C>A; p.P1648Q; 1:13782738-13782738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3838A>G; p.I1280V; 1:13781633-13781633	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.686A>T; p.E229V; 1:13778481-13778481	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1802T>G; p.L601R; 1:13779597-13779597	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3194C>G; p.S1065C; 1:13780989-13780989	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4598A>G; p.K1533R; 1:13782393-13782393	skin; mucosal	malignant_melanoma	Substitution - Missense
c.4975G>T; p.A1659S; 1:13782770-13782770	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4168_4169delGG; p.G1390fs*14; 1:13781963-13781964	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2337C>T; p.S779S; 1:13780132-13780132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2337C>T; p.S779S; 1:13780132-13780132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1229G>A; p.R410Q; 1:13779024-13779024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3559G>C; p.V1187L; 1:13781354-13781354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.2878C>T; p.Q960*; 1:13780673-13780673	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5010C>T; p.S1670S; 1:13782805-13782805	pancreas	carcinoma	Substitution - coding silent
c.2637G>C; p.K879N; 1:13780432-13780432	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2809A>G; p.T937A; 1:13780604-13780604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2637G>C; p.K879N; 1:13780432-13780432	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4584G>T; p.Q1528H; 1:13782379-13782379	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.883G>A; p.E295K; 1:13778678-13778678	skin	malignant_melanoma	Substitution - Missense
c.409C>T; p.L137L; 1:13749385-13749385	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4020A>G; p.K1340K; 1:13781815-13781815	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3376_3378delGTT; p.V1126delV; 1:13781171-13781173	central_nervous_system; brain	glioma	Deletion - In frame
c.1082C>A; p.P361Q; 1:13778877-13778877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2692G>A; p.G898S; 1:13780487-13780487	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1082C>T; p.P361L; 1:13778877-13778877	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4458_4459insA; p.V1490fs*6; 1:13782253-13782254	liver	carcinoma	Insertion - Frameshift
c.1184G>A; p.C395Y; 1:13778979-13778979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4567A>C; p.K1523Q; 1:13782362-13782362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3632G>A; p.R1211Q; 1:13781427-13781427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4631T>C; p.V1544A; 1:13782426-13782426	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4421C>T; p.A1474V; 1:13782216-13782216	skin; trunk	malignant_melanoma	Substitution - Missense
c.721A>G; p.T241A; 1:13778516-13778516	skin	malignant_melanoma	Substitution - Missense
c.721A>G; p.T241A; 1:13778516-13778516	skin	malignant_melanoma	Substitution - Missense
c.4094C>T; p.T1365M; 1:13781889-13781889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4702C>T; p.P1568S; 1:13782497-13782497	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.684G>A; p.Q228Q; 1:13778479-13778479	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4311C>T; p.N1437N; 1:13782106-13782106	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2390C>A; p.P797H; 1:13780185-13780185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4852A>G; p.S1618G; 1:13782647-13782647	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4831C>T; p.L1611L; 1:13782626-13782626	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1855_1856CC>TT; p.P619F; 1:13779650-13779651	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.174A>G; p.P58P; 1:13732825-13732825	thyroid	carcinoma	Substitution - coding silent
c.2535A>G; p.E845E; 1:13780330-13780330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.348G>A; p.L116L; 1:13742121-13742121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1794A>G; p.I598M; 1:13779589-13779589	liver	carcinoma	Substitution - Missense
c.1794A>G; p.I598M; 1:13779589-13779589	liver	carcinoma	Substitution - Missense
c.494C>A; p.S165Y; 1:13749470-13749470	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.849_850delTG; p.D283fs*2; 1:13778644-13778645	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.849_850delTG; p.D283fs*2; 1:13778644-13778645	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.849_850delTG; p.D283fs*2; 1:13778644-13778645	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1519G>A; p.E507K; 1:13779314-13779314	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.849_850delTG; p.D283fs*2; 1:13778644-13778645	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.773C>T; p.A258V; 1:13778568-13778568	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4270delA; p.N1426fs*3; 1:13782065-13782065	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4270delA; p.N1426fs*3; 1:13782065-13782065	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4270delA; p.N1426fs*3; 1:13782065-13782065	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4270delA; p.N1426fs*3; 1:13782065-13782065	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4270delA; p.N1426fs*3; 1:13782065-13782065	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.299G>A; p.R100Q; 1:13742072-13742072	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4270delA; p.N1426fs*3; 1:13782065-13782065	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4459_4460delAA; p.K1489fs*6; 1:13782254-13782255	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.4270delA; p.N1426fs*3; 1:13782065-13782065	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.480G>C; p.R160R; 1:13749456-13749456	thyroid	carcinoma	Substitution - coding silent
c.3054C>T; p.S1018S; 1:13780849-13780849	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2020A>G; p.T674A; 1:13779815-13779815	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4983G>C; p.L1661F; 1:13782778-13782778	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4639C>T; p.P1547S; 1:13782434-13782434	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1030C>T; p.P344S; 1:13778825-13778825	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2520T>C; p.T840T; 1:13780315-13780315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4910T>C; p.F1637S; 1:13782705-13782705	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2974A>T; p.T992S; 1:13780769-13780769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3445C>T; p.L1149L; 1:13781240-13781240	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1221A>C; p.R407R; 1:13779016-13779016	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.121C>G; p.R41G; 1:13731111-13731111	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2714A>C; p.N905T; 1:13780509-13780509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1221A>C; p.R407R; 1:13779016-13779016	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4536_4537CC>TT; p.H1513Y; 1:13782331-13782332	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4049A>G; p.K1350R; 1:13781844-13781844	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.47C>T; p.A16V; 1:13731037-13731037	skin	malignant_melanoma	Substitution - Missense
c.722C>A; p.T241N; 1:13778517-13778517	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.47C>T; p.A16V; 1:13731037-13731037	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2338G>T; p.D780Y; 1:13780133-13780133	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2954C>T; p.P985L; 1:13780749-13780749	skin	malignant_melanoma	Substitution - Missense
c.3763A>G; p.T1255A; 1:13781558-13781558	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4618delG; p.G1540fs*24; 1:13782413-13782413	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2954C>T; p.P985L; 1:13780749-13780749	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5000_5001delAG; p.E1667fs*34; 1:13782795-13782796	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.681C>T; p.L227L; 1:13778476-13778476	skin	malignant_melanoma	Substitution - coding silent
c.1887G>A; p.L629L; 1:13779682-13779682	breast	carcinoma	Substitution - coding silent
c.4396T>C; p.Y1466H; 1:13782191-13782191	breast	carcinoma	Substitution - Missense
c.849_850insAGA; p.D283_D284insR; 1:13778644-13778645	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Insertion - In frame
c.3046G>A; p.A1016T; 1:13780841-13780841	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5082G>T; p.P1694P; 1:13816472-13816472	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2622G>A; p.T874T; 1:13780417-13780417	pancreas	carcinoma	Substitution - coding silent
c.2622G>A; p.T874T; 1:13780417-13780417	pancreas	carcinoma	Substitution - coding silent
c.2622G>A; p.T874T; 1:13780417-13780417	pancreas	carcinoma	Substitution - coding silent
c.2445_2452delTAGCAGTG; p.S816fs*17; 1:13780240-13780247	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2986C>T; p.P996S; 1:13780781-13780781	oesophagus	carcinoma	Substitution - Missense
c.4357T>C; p.S1453P; 1:13782152-13782152	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4423G>A; p.A1475T; 1:13782218-13782218	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3481C>T; p.P1161S; 1:13781276-13781276	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4423G>A; p.A1475T; 1:13782218-13782218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2493A>G; p.K831K; 1:13780288-13780288	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4551A>G; p.T1517T; 1:13782346-13782346	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4551A>G; p.T1517T; 1:13782346-13782346	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4323G>T; p.K1441N; 1:13782118-13782118	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3670_3671insTTGAAAGC; p.G1227fs*6; 1:13781465-13781466	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Insertion - Frameshift
c.3832T>A; p.S1278T; 1:13781627-13781627	prostate	carcinoma	Substitution - Missense
c.4194A>T; p.G1398G; 1:13781989-13781989	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4686G>A; p.S1562S; 1:13782481-13782481	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.831T>A; p.D277E; 1:13778626-13778626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1655A>C; p.D552A; 1:13779450-13779450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5060G>A; p.R1687Q; 1:13816450-13816450	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4394C>A; p.T1465N; 1:13782189-13782189	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4108C>G; p.P1370A; 1:13781903-13781903	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.265G>T; p.D89Y; 1:13742038-13742038	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1750G>C; p.D584H; 1:13779545-13779545	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2621C>T; p.T874M; 1:13780416-13780416	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4919A>C; p.K1640T; 1:13782714-13782714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4416A>C; p.K1472N; 1:13782211-13782211	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3186T>G; p.S1062S; 1:13780981-13780981	skin	malignant_melanoma	Substitution - coding silent
c.4444C>T; p.P1482S; 1:13782239-13782239	prostate	carcinoma	Substitution - Missense
c.3070T>A; p.S1024T; 1:13780865-13780865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4665G>A; p.Q1555Q; 1:13782460-13782460	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3502G>A; p.V1168M; 1:13781297-13781297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3502G>A; p.V1168M; 1:13781297-13781297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4279C>T; p.Q1427*; 1:13782074-13782074	breast	carcinoma	Substitution - Nonsense
c.1999C>G; p.L667V; 1:13779794-13779794	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2899_2900CC>TT; p.P967F; 1:13780694-13780695	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4146C>T; p.G1382G; 1:13781941-13781941	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4146C>T; p.G1382G; 1:13781941-13781941	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3104C>T; p.P1035L; 1:13780899-13780899	skin	malignant_melanoma	Substitution - Missense
c.3045C>A; p.T1015T; 1:13780840-13780840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2388C>T; p.S796S; 1:13780183-13780183	skin	malignant_melanoma	Substitution - coding silent
c.3104C>T; p.P1035L; 1:13780899-13780899	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3204T>G; p.S1068S; 1:13780999-13780999	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1600A>G; p.T534A; 1:13779395-13779395	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1216C>T; p.R406W; 1:13779011-13779011	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4066G>A; p.A1356T; 1:13781861-13781861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.852delT; p.D284fs*22; 1:13778647-13778647	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5038T>C; p.Y1680H; 1:13816428-13816428	large_intestine; colon	NS	Substitution - Missense
c.852delT; p.D284fs*22; 1:13778647-13778647	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2248C>A; p.L750I; 1:13780043-13780043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.852delT; p.D284fs*22; 1:13778647-13778647	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5145C>A; p.F1715L; 1:13816535-13816535	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1910A>G; p.K637R; 1:13779705-13779705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4936delG; p.P1648fs*14; 1:13782731-13782731	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3057A>C; p.P1019P; 1:13780852-13780852	breast	carcinoma	Substitution - coding silent
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	ovary	carcinoma; serous_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.4420G>A; p.A1474T; 1:13782215-13782215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2104_2105insCTC; p.P703_A704insP; 1:13779899-13779900	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2862C>A; p.P954P; 1:13780657-13780657	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.81G>A; p.P27P; 1:13731071-13731071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3461C>A; p.S1154Y; 1:13781256-13781256	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5095C>T; p.Q1699*; 1:13816485-13816485	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.81G>A; p.P27P; 1:13731071-13731071	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1627G>T; p.E543*; 1:13779422-13779422	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.121C>T; p.R41W; 1:13731111-13731111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4624A>G; p.T1542A; 1:13782419-13782419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2690A>T; p.N897I; 1:13780485-13780485	skin	malignant_melanoma	Substitution - Missense
c.846A>T; p.E282D; 1:13778641-13778641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.846A>T; p.E282D; 1:13778641-13778641	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.846A>T; p.E282D; 1:13778641-13778641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1913A>G; p.K638R; 1:13779708-13779708	urinary_tract; bladder	carcinoma	Substitution - Missense
c.846A>T; p.E282D; 1:13778641-13778641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.846A>T; p.E282D; 1:13778641-13778641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.846A>T; p.E282D; 1:13778641-13778641	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.846A>T; p.E282D; 1:13778641-13778641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3369_3371delTGT; p.V1126delV; 1:13781164-13781166	breast	carcinoma	Deletion - In frame
c.1493T>C; p.M498T; 1:13779288-13779288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3850G>T; p.D1284Y; 1:13781645-13781645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1564G>C; p.E522Q; 1:13779359-13779359	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4824A>G; p.S1608S; 1:13782619-13782619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1497A>G; p.R499R; 1:13779292-13779292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2299G>A; p.G767R; 1:13780094-13780094	breast	carcinoma	Substitution - Missense
c.1220G>A; p.R407Q; 1:13779015-13779015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.199T>A; p.S67T; 1:13732850-13732850	liver	carcinoma	Substitution - Missense
c.1930C>T; p.P644S; 1:13779725-13779725	skin	malignant_melanoma	Substitution - Missense
c.4241C>T; p.S1414L; 1:13782036-13782036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3093C>T; p.P1031P; 1:13780888-13780888	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4241C>T; p.S1414L; 1:13782036-13782036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2090C>T; p.T697I; 1:13779885-13779885	skin	malignant_melanoma	Substitution - Missense
c.99C>T; p.F33F; 1:13731089-13731089	skin	malignant_melanoma	Substitution - coding silent
c.2002C>T; p.P668S; 1:13779797-13779797	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2508T>C; p.G836G; 1:13780303-13780303	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4239G>C; p.S1413S; 1:13782034-13782034	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.4239G>C; p.S1413S; 1:13782034-13782034	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.4241C>G; p.S1414W; 1:13782036-13782036	oesophagus	carcinoma	Substitution - Missense
c.2508T>C; p.G836G; 1:13780303-13780303	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2971C>G; p.P991A; 1:13780766-13780766	central_nervous_system; brain	glioma	Substitution - Missense
c.1217G>A; p.R406Q; 1:13779012-13779012	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2332C>G; p.H778D; 1:13780127-13780127	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3173C>A; p.S1058Y; 1:13780968-13780968	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.904G>A; p.E302K; 1:13778699-13778699	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3595G>C; p.E1199Q; 1:13781390-13781390	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3244T>A; p.S1082T; 1:13781039-13781039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2865C>T; p.S955S; 1:13780660-13780660	skin	malignant_melanoma	Substitution - coding silent
c.3123G>A; p.M1041I; 1:13780918-13780918	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2506G>T; p.G836C; 1:13780301-13780301	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3792T>C; p.D1264D; 1:13781587-13781587	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2781C>T; p.L927L; 1:13780576-13780576	skin	malignant_melanoma	Substitution - coding silent
c.3993C>T; p.T1331T; 1:13781788-13781788	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2827G>T; p.D943Y; 1:13780622-13780622	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5059C>T; p.R1687*; 1:13816449-13816449	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3564G>T; p.G1188G; 1:13781359-13781359	liver	carcinoma	Substitution - coding silent
c.3564G>T; p.G1188G; 1:13781359-13781359	liver	carcinoma	Substitution - coding silent
c.3775G>T; p.E1259*; 1:13781570-13781570	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2387G>T; p.S796I; 1:13780182-13780182	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3108C>T; p.P1036P; 1:13780903-13780903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2634A>G; p.V878V; 1:13780429-13780429	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4589C>T; p.P1530L; 1:13782384-13782384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1387G>A; p.A463T; 1:13779182-13779182	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3021C>T; p.C1007C; 1:13780816-13780816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3021C>T; p.C1007C; 1:13780816-13780816	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4768A>G; p.K1590E; 1:13782563-13782563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2675T>C; p.L892P; 1:13780470-13780470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5152G>T; p.E1718*; 1:13816542-13816542	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.2694C>T; p.G898G; 1:13780489-13780489	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4836C>G; p.H1612Q; 1:13782631-13782631	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3772G>A; p.E1258K; 1:13781567-13781567	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3130G>A; p.A1044T; 1:13780925-13780925	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.2694C>T; p.G898G; 1:13780489-13780489	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4546C>T; p.R1516W; 1:13782341-13782341	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2001T>C; p.L667L; 1:13779796-13779796	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.862_864delGAG; p.E288delE; 1:13778657-13778659	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.1374G>T; p.M458I; 1:13779169-13779169	kidney	other; neoplasm	Substitution - Missense
c.672G>A; p.P224P; 1:13778467-13778467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1925C>T; p.A642V; 1:13779720-13779720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1213C>T; p.R405W; 1:13779008-13779008	skin	malignant_melanoma	Substitution - Missense
c.2362G>A; p.G788R; 1:13780157-13780157	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2772T>A; p.D924E; 1:13780567-13780567	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2864C>T; p.S955F; 1:13780659-13780659	skin	malignant_melanoma	Substitution - Missense
c.2900C>A; p.P967H; 1:13780695-13780695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1801C>T; p.L601L; 1:13779596-13779596	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3813G>A; p.T1271T; 1:13781608-13781608	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2883G>A; p.L961L; 1:13780678-13780678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.832_834delGAA; p.E282delE; 1:13778627-13778629	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.3238G>A; p.A1080T; 1:13781033-13781033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.459G>A; p.E153E; 1:13749435-13749435	skin	malignant_melanoma	Substitution - coding silent
c.4323G>A; p.K1441K; 1:13782118-13782118	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.980C>A; p.S327*; 1:13778775-13778775	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.2291C>T; p.T764I; 1:13780086-13780086	skin	malignant_melanoma	Substitution - Missense
c.4332C>T; p.A1444A; 1:13782127-13782127	skin	malignant_melanoma	Substitution - coding silent
c.4239G>A; p.S1413S; 1:13782034-13782034	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4324C>T; p.Q1442*; 1:13782119-13782119	liver	carcinoma	Substitution - Nonsense
c.4324C>T; p.Q1442*; 1:13782119-13782119	liver	carcinoma	Substitution - Nonsense
c.2108_2109insACC; p.P703_A704insP; 1:13779903-13779904	NS	malignant_melanoma	Insertion - In frame
c.164A>C; p.K55T; 1:13732815-13732815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3709C>T; p.P1237S; 1:13781504-13781504	skin	malignant_melanoma	Substitution - Missense
c.338T>C; p.L113S; 1:13742111-13742111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5055G>A; p.A1685A; 1:13816445-13816445	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5055G>A; p.A1685A; 1:13816445-13816445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1211A>C; p.N404T; 1:13779006-13779006	skin	malignant_melanoma	Substitution - Missense
c.1567G>C; p.E523Q; 1:13779362-13779362	breast	carcinoma	Substitution - Missense
c.3382G>A; p.E1128K; 1:13781177-13781177	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4798T>C; p.S1600P; 1:13782593-13782593	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.4459delA; p.V1490fs*74; 1:13782254-13782254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4459delA; p.V1490fs*74; 1:13782254-13782254	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4459delA; p.V1490fs*74; 1:13782254-13782254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4459delA; p.V1490fs*74; 1:13782254-13782254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3615T>G; p.N1205K; 1:13781410-13781410	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4459delA; p.V1490fs*74; 1:13782254-13782254	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.4459delA; p.V1490fs*74; 1:13782254-13782254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4459delA; p.V1490fs*74; 1:13782254-13782254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4459delA; p.V1490fs*74; 1:13782254-13782254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4459delA; p.V1490fs*74; 1:13782254-13782254	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2626A>G; p.S876G; 1:13780421-13780421	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4459delA; p.V1490fs*74; 1:13782254-13782254	stomach	adenocarcinoma	Deletion - Frameshift
c.4278T>A; p.N1426K; 1:13782073-13782073	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4671C>G; p.V1557V; 1:13782466-13782466	breast	carcinoma	Substitution - coding silent
c.2917C>T; p.P973S; 1:13780712-13780712	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2411A>C; p.K804T; 1:13780206-13780206	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3889A>T; p.S1297C; 1:13781684-13781684	breast	carcinoma	Substitution - Missense
c.4333G>A; p.D1445N; 1:13782128-13782128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1042G>C; p.E348Q; 1:13778837-13778837	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4183C>T; p.R1395*; 1:13781978-13781978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4512T>C; p.S1504S; 1:13782307-13782307	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1409C>A; p.S470Y; 1:13779204-13779204	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1409C>A; p.S470Y; 1:13779204-13779204	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1409C>A; p.S470Y; 1:13779204-13779204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3623A>G; p.Q1208R; 1:13781418-13781418	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4891_4893delAAG; p.K1632delK; 1:13782686-13782688	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.852T>A; p.D284E; 1:13778647-13778647	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1711G>A; p.D571N; 1:13779506-13779506	pancreas	carcinoma	Substitution - Missense
c.852T>A; p.D284E; 1:13778647-13778647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.852T>A; p.D284E; 1:13778647-13778647	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2726G>T; p.G909V; 1:13780521-13780521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5074G>A; p.A1692T; 1:13816464-13816464	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.5074G>A; p.A1692T; 1:13816464-13816464	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1514T>C; p.V505A; 1:13779309-13779309	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1498C>T; p.R500W; 1:13779293-13779293	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4047C>G; p.H1349Q; 1:13781842-13781842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2533G>A; p.E845K; 1:13780328-13780328	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.847_849delGAT; p.D287delD; 1:13778642-13778644	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.834A>T; p.E278D; 1:13778629-13778629	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.834A>T; p.E278D; 1:13778629-13778629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2344C>T; p.P782S; 1:13780139-13780139	skin	malignant_melanoma	Substitution - Missense
c.834A>T; p.E278D; 1:13778629-13778629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.127G>A; p.G43S; 1:13731117-13731117	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1225G>T; p.E409*; 1:13779020-13779020	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.834A>T; p.E278D; 1:13778629-13778629	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4438delA; p.K1481fs*83; 1:13782233-13782233	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2931C>T; p.P977P; 1:13780726-13780726	skin	malignant_melanoma	Substitution - coding silent
c.4300C>T; p.L1434F; 1:13782095-13782095	skin	malignant_melanoma	Substitution - Missense
c.4438delA; p.K1481fs*83; 1:13782233-13782233	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1362C>G; p.D454E; 1:13779157-13779157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4739G>A; p.R1580K; 1:13782534-13782534	breast	carcinoma	Substitution - Missense
c.3225A>C; p.P1075P; 1:13781020-13781020	ovary	other; neoplasm	Substitution - coding silent
c.231+2T>C; p.?; 1:13732884-13732884	stomach	carcinoma; adenocarcinoma	Unknown
c.831_832insGAA; p.E282_D283insE; 1:13778626-13778627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.831_832insGAA; p.E282_D283insE; 1:13778626-13778627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.831_832insGAA; p.E282_D283insE; 1:13778626-13778627	breast	carcinoma	Insertion - In frame
c.4842G>C; p.R1614S; 1:13782637-13782637	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.831_832insGAA; p.E282_D283insE; 1:13778626-13778627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.831_832insGAA; p.E282_D283insE; 1:13778626-13778627	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.1681A>T; p.N561Y; 1:13779476-13779476	liver	carcinoma	Substitution - Missense
c.2046G>T; p.E682D; 1:13779841-13779841	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1681A>T; p.N561Y; 1:13779476-13779476	liver	carcinoma	Substitution - Missense
c.2977G>A; p.V993I; 1:13780772-13780772	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3853C>G; p.P1285A; 1:13781648-13781648	thyroid	other; neoplasm	Substitution - Missense
c.1415T>G; p.V472G; 1:13779210-13779210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3312A>C; p.E1104D; 1:13781107-13781107	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3244T>C; p.S1082P; 1:13781039-13781039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2392C>T; p.P798S; 1:13780187-13780187	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.403G>A; p.E135K; 1:13749379-13749379	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4507G>T; p.A1503S; 1:13782302-13782302	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.523T>C; p.S175P; 1:13773089-13773089	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1008G>A; p.E336E; 1:13778803-13778803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4942C>T; p.P1648S; 1:13782737-13782737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3995C>T; p.A1332V; 1:13781790-13781790	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5048G>A; p.R1683H; 1:13816438-13816438	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.384G>T; p.K128N; 1:13742157-13742157	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5048G>A; p.R1683H; 1:13816438-13816438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.470C>T; p.A157V; 1:13749446-13749446	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.702G>T; p.E234D; 1:13778497-13778497	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.470_471CC>TT; p.A157V; 1:13749446-13749447	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3158C>T; p.S1053F; 1:13780953-13780953	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1227G>A; p.E409E; 1:13779022-13779022	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2996C>A; p.S999Y; 1:13780791-13780791	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2782G>A; p.G928S; 1:13780577-13780577	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3098C>T; p.P1033L; 1:13780893-13780893	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2240G>T; p.S747I; 1:13780035-13780035	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]