Entrez Gene

Basic Information
Gene ID	867
Name	CBL
Synonymous	Cbl proto-oncogene, E3 ubiquitin protein ligase;CBL;Cbl proto-oncogene, E3 ubiquitin protein ligase
Definition	Cas-Br-M (murine) ecotropic retroviral transforming sequence\|E3 ubiquitin-protein ligase CBL\|RING finger protein 55\|casitas B-lineage lymphoma proto-oncogene\|fragile site, folic acid type, rare, fra(11)(q23.3)\|oncogene CBL2\|proto-oncogene c-Cbl\|signal tra
Position	11q23.3
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.11.

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.1638G>A; p.P546P; 11:119285263-119285263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1095+1G>C; p.?; 11:119277845-119277845	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Unknown
c.1285_1302del18; p.I429_F434delIVVDPF; 11:119278567-119278584	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - In frame
c.770A>G; p.N257S; 11:119274854-119274854	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1095+1G>C; p.?; 11:119277845-119277845	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.1201T>A; p.C401S; 11:119278271-119278271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.1100A>C; p.Q367P; 11:119278170-119278170	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.1972G>C; p.E658Q; 11:119287882-119287882	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2101A>G; p.M701V; 11:119296982-119296982	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1450C>T; p.P484S; 11:119284987-119284987	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1120A>G; p.M374V; 11:119278190-119278190	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1100A>T; p.Q367L; 11:119278170-119278170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1247G>A; p.C416Y; 11:119278529-119278529	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1169A>G; p.D390G; 11:119278239-119278239	pancreas	carcinoma	Substitution - Missense
c.1169A>G; p.D390G; 11:119278239-119278239	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.874A>G; p.I292V; 11:119276001-119276001	liver	carcinoma	Substitution - Missense
c.36G>T; p.G12G; 11:119206453-119206453	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1247G>A; p.C416Y; 11:119278529-119278529	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1169A>G; p.D390G; 11:119278239-119278239	pancreas	carcinoma	Substitution - Missense
c.1737C>T; p.P579P; 11:119285362-119285362	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.852C>T; p.F284F; 11:119274936-119274936	skin	malignant_melanoma	Substitution - coding silent
c.1183C>G; p.P395A; 11:119278253-119278253	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.881G>A; p.R294Q; 11:119276008-119276008	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1228-2A>T; p.?; 11:119278508-119278508	oesophagus	carcinoma; squamous_cell_carcinoma	Unknown
c.1223G>T; p.W408L; 11:119278293-119278293	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1224G>T; p.W408C; 11:119278294-119278294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2665delA; p.N890fs*15; 11:119299725-119299725	NS	malignant_melanoma	Deletion - Frameshift
c.1237G>C; p.G413R; 11:119278519-119278519	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1237G>C; p.G413R; 11:119278519-119278519	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1340C>T; p.A447V; 11:119278622-119278622	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.597A>T; p.I199I; 11:119273874-119273874	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1528C>T; p.P510S; 11:119285065-119285065	skin	malignant_melanoma	Substitution - Missense
c.745C>T; p.Q249*; 11:119274022-119274022	skin	malignant_melanoma	Substitution - Nonsense
c.1244G>T; p.G415V; 11:119278526-119278526	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1141T>C; p.C381R; 11:119278211-119278211	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1141T>C; p.C381R; 11:119278211-119278211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1101_1102insCAA; p.Q367_Y368insQ; 11:119278171-119278172	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; mast_cell_neoplasm	Insertion - In frame
c.1141T>C; p.C381R; 11:119278211-119278211	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.2599C>T; p.Q867*; 11:119299659-119299659	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.638_639insA; p.H213fs*17; 11:119273915-119273916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.2314G>T; p.D772Y; 11:119298420-119298420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.280C>T; p.H94Y; 11:119232532-119232532	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1142G>A; p.C381Y; 11:119278212-119278212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1142G>A; p.C381Y; 11:119278212-119278212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1142G>A; p.C381Y; 11:119278212-119278212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2216C>T; p.S739F; 11:119297446-119297446	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.809_810insT; p.L272fs*4; 11:119274893-119274894	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1142G>A; p.C381Y; 11:119278212-119278212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1298C>T; p.P433L; 11:119278580-119278580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1192C>T; p.H398Y; 11:119278262-119278262	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1142G>A; p.C381Y; 11:119278212-119278212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1360A>G; p.N454D; 11:119278642-119278642	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1193A>G; p.H398R; 11:119278263-119278263	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1193A>G; p.H398R; 11:119278263-119278263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2150C>T; p.S717L; 11:119297031-119297031	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1904C>A; p.P635H; 11:119285529-119285529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1676G>A; p.R559Q; 11:119285301-119285301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.741C>G; p.L247L; 11:119274018-119274018	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.958C>G; p.H320D; 11:119276085-119276085	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1012T>C; p.L338L; 11:119277761-119277761	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1027C>T; p.R343*; 11:119277776-119277776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.1027C>T; p.R343*; 11:119277776-119277776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1027C>T; p.R343*; 11:119277776-119277776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1641T>C; p.P547P; 11:119285266-119285266	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1096-78_1108>CAGTCTTCA; p.?; 11:119278166-119278178	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1619G>C; p.R540P; 11:119285244-119285244	breast	carcinoma	Substitution - Missense
c.1214T>C; p.L405P; 11:119278284-119278284	skin	malignant_melanoma	Substitution - Missense
c.1401C>A; p.L467L; 11:119278683-119278683	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.922G>A; p.V308I; 11:119276049-119276049	liver	carcinoma	Substitution - Missense
c.2406G>A; p.W802*; 11:119298512-119298512	lung	carcinoma; non_small_cell_carcinoma	Substitution - Nonsense
c.557C>T; p.A186V; 11:119271848-119271848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.116A>G; p.H39R; 11:119206533-119206533	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1501G>C; p.D501H; 11:119285038-119285038	breast	carcinoma	Substitution - Missense
c.523C>T; p.Q175*; 11:119271814-119271814	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1379_1381delATG; p.D460delD; 11:119278661-119278663	lung	carcinoma; non_small_cell_carcinoma	Deletion - In frame
c.860A>G; p.K287R; 11:119274944-119274944	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1618C>A; p.R540R; 11:119285243-119285243	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1100A>G; p.Q367R; 11:119278170-119278170	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1100A>G; p.Q367R; 11:119278170-119278170	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1100A>G; p.Q367R; 11:119278170-119278170	genital_tract; extragonadal	germ_cell_tumour; teratoma	Substitution - Missense
c.860A>G; p.K287R; 11:119274944-119274944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2297A>T; p.E766V; 11:119298403-119298403	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.261G>A; p.L87L; 11:119232513-119232513	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1222T>A; p.W408R; 11:119278292-119278292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.965A>C; p.K322T; 11:119276092-119276092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1222T>A; p.W408R; 11:119278292-119278292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1250C>A; p.P417H; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1250C>A; p.P417H; 11:119278532-119278532	skin	malignant_melanoma	Substitution - Missense
c.1250C>G; p.P417R; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1412A>G; p.K471R; 11:119278694-119278694	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1496G>T; p.R499L; 11:119285033-119285033	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1250C>G; p.P417R; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.1208C>G; p.S403C; 11:119278278-119278278	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1865T>G; p.F622C; 11:119285490-119285490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1259G>T; p.R420L; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1096-96_1186>CGG; p.?; 11:119278069-119278256	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.641C>T; p.P214L; 11:119273918-119273918	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1199T>G; p.M400R; 11:119278269-119278269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.616C>T; p.R206*; 11:119273893-119273893	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1643C>T; p.P548L; 11:119285268-119285268	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.616C>T; p.R206*; 11:119273893-119273893	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1643C>T; p.P548L; 11:119285268-119285268	genital_tract; extragonadal	germ_cell_tumour; mixed	Substitution - Missense
c.333A>G; p.E111E; 11:119232585-119232585	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1190_1288del99; p.G397_I429del; 11:119278260-119278570	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - In frame
c.2549C>T; p.A850V; 11:119299609-119299609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1047G>A; p.L349L; 11:119277796-119277796	breast	carcinoma	Substitution - coding silent
c.1804G>A; p.A602T; 11:119285429-119285429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1111T>G; p.Y371D; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>G; p.Y371D; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2024C>G; p.S675C; 11:119287934-119287934	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.1111T>G; p.Y371D; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>G; p.Y371D; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1973A>T; p.E658V; 11:119287883-119287883	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1837G>T; p.E613*; 11:119285462-119285462	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2037-1G>A; p.?; 11:119296917-119296917	skin; trunk	malignant_melanoma	Unknown
c.2024C>G; p.S675C; 11:119287934-119287934	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.746A>G; p.Q249R; 11:119274023-119274023	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1283C>T; p.P428L; 11:119278565-119278565	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1171G>A; p.V391I; 11:119278241-119278241	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1171G>A; p.V391I; 11:119278241-119278241	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1007+2T>C; p.?; 11:119276136-119276136	stomach	carcinoma; adenocarcinoma	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Unknown
c.1207_1227+1637>CTTT; p.?; 11:119278277-119278313	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.2681A>G; p.E894G; 11:119299741-119299741	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.835G>A; p.A279T; 11:119274919-119274919	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_eosinophilic_leukaemia-hypereosinophilic_syndrome	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1228-2A>G; p.?; 11:119278508-119278508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.595A>G; p.I199V; 11:119273872-119273872	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.826G>A; p.E276K; 11:119274910-119274910	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.E276K; 11:119274910-119274910	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.E276K; 11:119274910-119274910	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.859A>G; p.K287E; 11:119274943-119274943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1111_1112insTAT; p.L370_Y371insL; 11:119278181-119278182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Insertion - In frame
c.736C>T; p.R246*; 11:119274013-119274013	pancreas	carcinoma	Substitution - Nonsense
c.1187G>A; p.C396Y; 11:119278257-119278257	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1187G>A; p.C396Y; 11:119278257-119278257	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.1222T>C; p.W408R; 11:119278292-119278292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1251T>C; p.P417P; 11:119278533-119278533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1251T>C; p.P417P; 11:119278533-119278533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1222T>C; p.W408R; 11:119278292-119278292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.198G>T; p.V66V; 11:119232450-119232450	breast	carcinoma	Substitution - coding silent
c.279G>A; p.Q93Q; 11:119232531-119232531	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1128C>T; p.S376S; 11:119278198-119278198	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1128C>T; p.S376S; 11:119278198-119278198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1128C>T; p.S376S; 11:119278198-119278198	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2708A>T; p.H903L; 11:119299768-119299768	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1167G>T; p.K389N; 11:119278237-119278237	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1299G>A; p.P433P; 11:119278581-119278581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101A>G; p.Q367Q; 11:119278171-119278171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1212T>G; p.C404W; 11:119278282-119278282	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1753C>T; p.R585C; 11:119285378-119285378	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1287C>T; p.I429I; 11:119278569-119278569	skin	malignant_melanoma	Substitution - coding silent
c.1096-10_1106>CCGGGG; p.?; 11:119278156-119278176	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Unknown
c.1287C>T; p.I429I; 11:119278569-119278569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.601C>T; p.P201S; 11:119273878-119273878	skin	malignant_melanoma	Substitution - Missense
c.1496G>A; p.R499Q; 11:119285033-119285033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.601C>T; p.P201S; 11:119273878-119273878	skin	malignant_melanoma	Substitution - Missense
c.601C>T; p.P201S; 11:119273878-119273878	skin; extremity	malignant_melanoma	Substitution - Missense
c.1172_1173insGGATGT; p.V391_K392insDV; 11:119278242-119278243	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Insertion - In frame
c.1674C>T; p.S558S; 11:119285299-119285299	skin	malignant_melanoma	Substitution - coding silent
c.1152T>G; p.C384W; 11:119278222-119278222	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1195C>G; p.L399V; 11:119278265-119278265	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1096-1G>A; p.?; 11:119278165-119278165	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2495A>T; p.N832I; 11:119299555-119299555	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1255T>C; p.C419R; 11:119278537-119278537	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2495A>T; p.N832I; 11:119299555-119299555	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1255T>C; p.C419R; 11:119278537-119278537	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1255T>C; p.C419R; 11:119278537-119278537	genital_tract; extragonadal	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.1385G>T; p.R462L; 11:119278667-119278667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2489G>A; p.R830K; 11:119299549-119299549	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1421C>T; p.A474V; 11:119278703-119278703	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2032G>A; p.A678T; 11:119287942-119287942	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.600C>T; p.V200V; 11:119273877-119273877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.600C>T; p.V200V; 11:119273877-119273877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1196T>C; p.L399P; 11:119278266-119278266	skin; neck	malignant_melanoma	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1612delA; p.T538fs*77; 11:119285237-119285237	liver	carcinoma	Deletion - Frameshift
c.1253T>C; p.F418S; 11:119278535-119278535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1253T>C; p.F418S; 11:119278535-119278535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2543C>T; p.A848V; 11:119299603-119299603	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1477C>T; p.L493F; 11:119285014-119285014	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.870_1007del138; p.I292_Y337del46; 11:119275997-119276134	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1982A>C; p.H661P; 11:119287892-119287892	breast	carcinoma	Substitution - Missense
c.1227+4C>T; p.?; 11:119278301-119278301	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1202G>A; p.C401Y; 11:119278272-119278272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1202G>A; p.C401Y; 11:119278272-119278272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1227+4C>T; p.?; 11:119278301-119278301	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Unknown
c.446G>A; p.R149Q; 11:119271737-119271737	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>A; p.R149Q; 11:119271737-119271737	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>A; p.R149Q; 11:119271737-119271737	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1096-?_1431+?del1680; p.E366_K477del; 11:119278166-119278713	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Deletion - In frame
c.543T>C; p.I181I; 11:119271834-119271834	skin	malignant_melanoma	Substitution - coding silent
c.1690C>T; p.P564S; 11:119285315-119285315	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.837T>G; p.A279A; 11:119274921-119274921	large_intestine; colon	NS	Substitution - coding silent
c.1246T>C; p.C416R; 11:119278528-119278528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1246T>C; p.C416R; 11:119278528-119278528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1223G>C; p.W408S; 11:119278293-119278293	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2601G>A; p.Q867Q; 11:119299661-119299661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1223G>C; p.W408S; 11:119278293-119278293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1384C>T; p.R462*; 11:119278666-119278666	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.1204delA; p.T402fs*30; 11:119278274-119278274	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Deletion - Frameshift
c.2033C>T; p.A678V; 11:119287943-119287943	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2603G>T; p.G868V; 11:119299663-119299663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1637C>T; p.P546L; 11:119285262-119285262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1106_1171del66; p.E369_D390del22; 11:119278176-119278241	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - In frame
c.600_601CC>TT; p.P201S; 11:119273877-119273878	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.842T>A; p.L281H; 11:119274926-119274926	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1112A>C; p.Y371S; 11:119278182-119278182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1112A>C; p.Y371S; 11:119278182-119278182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1101A>T; p.Q367H; 11:119278171-119278171	skin	malignant_melanoma	Substitution - Missense
c.2387C>T; p.A796V; 11:119298493-119298493	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1234G>A; p.E412K; 11:119278516-119278516	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1234G>A; p.E412K; 11:119278516-119278516	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1234G>A; p.E412K; 11:119278516-119278516	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1202G>C; p.C401S; 11:119278272-119278272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1202G>C; p.C401S; 11:119278272-119278272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1220C>T; p.S407F; 11:119278290-119278290	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2445A>C; p.E815D; 11:119299505-119299505	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1310G>T; p.R437I; 11:119278592-119278592	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1143T>C; p.C381C; 11:119278213-119278213	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	skin; acral	malignant_melanoma	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1143T>C; p.C381C; 11:119278213-119278213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1150T>C; p.C384R; 11:119278220-119278220	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1193A>C; p.H398P; 11:119278263-119278263	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1148T>C; p.I383T; 11:119278218-119278218	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.329G>A; p.G110E; 11:119232581-119232581	skin	malignant_melanoma	Substitution - Missense
c.1198A>G; p.M400V; 11:119278268-119278268	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2108C>T; p.P703L; 11:119296989-119296989	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2556C>T; p.T852T; 11:119299616-119299616	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.201G>A; p.V67V; 11:119232453-119232453	skin	malignant_melanoma	Substitution - coding silent
c.650C>A; p.S217Y; 11:119273927-119273927	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1259G>C; p.R420P; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia	Substitution - Missense
c.203G>T; p.R68L; 11:119232455-119232455	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2370C>T; p.L790L; 11:119298476-119298476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1480delC; p.P495fs*120; 11:119285017-119285017	thyroid	carcinoma; anaplastic_carcinoma	Deletion - Frameshift
c.1697C>T; p.P566L; 11:119285322-119285322	skin	malignant_melanoma	Substitution - Missense
c.1443G>A; p.P481P; 11:119284980-119284980	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1183C>T; p.P395S; 11:119278253-119278253	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2156C>T; p.A719V; 11:119297386-119297386	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1210T>G; p.C404G; 11:119278280-119278280	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.293T>C; p.I98T; 11:119232545-119232545	breast	carcinoma	Substitution - Missense
c.2291C>A; p.P764H; 11:119298397-119298397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2623C>T; p.Q875*; 11:119299683-119299683	skin; upper_leg	malignant_melanoma	Substitution - Nonsense
c.1099C>T; p.Q367*; 11:119278169-119278169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1717C>T; p.P573S; 11:119285342-119285342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2673C>T; p.I891I; 11:119299733-119299733	skin	malignant_melanoma	Substitution - coding silent
c.1202G>T; p.C401F; 11:119278272-119278272	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1013T>C; p.L338S; 11:119277762-119277762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.468C>T; p.L156L; 11:119271759-119271759	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1013T>C; p.L338S; 11:119277762-119277762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.468C>T; p.L156L; 11:119271759-119271759	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2641G>A; p.A881T; 11:119299701-119299701	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1364_1366delATG; p.D460delD; 11:119278646-119278648	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.1364_1366delATG; p.D460delD; 11:119278646-119278648	skin	malignant_melanoma	Deletion - In frame
c.1363_1364insATG; p.D460_E461insD; 11:119278645-119278646	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.1210T>C; p.C404R; 11:119278280-119278280	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1210T>C; p.C404R; 11:119278280-119278280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2439C>A; p.V813V; 11:119299499-119299499	breast	carcinoma	Substitution - coding silent
c.1106_1228del123; p.E369_Q409del; 11:119278176-119278510	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1364_1366delATG; p.D460delD; 11:119278646-119278648	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Deletion - In frame
c.1363_1364insATG; p.D460_E461insD; 11:119278645-119278646	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.1267A>T; p.I423F; 11:119278549-119278549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2465G>C; p.R822T; 11:119299525-119299525	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.416G>T; p.R139I; 11:119232668-119232668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2183G>A; p.S728N; 11:119297413-119297413	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1319G>T; p.G440V; 11:119278601-119278601	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2266G>T; p.A756S; 11:119298372-119298372	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1249C>T; p.P417S; 11:119278531-119278531	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.561G>A; p.A187A; 11:119271852-119271852	breast	carcinoma	Substitution - coding silent
c.1258C>G; p.R420G; 11:119278540-119278540	skin	malignant_melanoma	Substitution - Missense
c.2136T>C; p.D712D; 11:119297017-119297017	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1243G>A; p.G415S; 11:119278525-119278525	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.352delT; p.F118fs*5; 11:119232604-119232604	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1243G>A; p.G415S; 11:119278525-119278525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.G415S; 11:119278525-119278525	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1713C>T; p.D571D; 11:119285338-119285338	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2603G>A; p.G868E; 11:119299663-119299663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1407G>A; p.M469I; 11:119278689-119278689	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.745C>G; p.Q249E; 11:119274022-119274022	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.2404T>C; p.W802R; 11:119298510-119298510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033C>A; p.A678D; 11:119287943-119287943	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1407G>A; p.M469I; 11:119278689-119278689	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.2464A>G; p.R822G; 11:119299524-119299524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1111T>C; p.Y371H; 11:119278181-119278181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.793C>T; p.H265Y; 11:119274877-119274877	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2359C>A; p.R787S; 11:119298465-119298465	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1827G>A; p.W609*; 11:119285452-119285452	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2542G>A; p.A848T; 11:119299602-119299602	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1144A>G; p.K382E; 11:119278214-119278214	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1144A>G; p.K382E; 11:119278214-119278214	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1169A>T; p.D390V; 11:119278239-119278239	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.2363G>A; p.R788Q; 11:119298469-119298469	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1224G>C; p.W408C; 11:119278294-119278294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2463G>A; p.E821E; 11:119299523-119299523	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.560C>T; p.A187V; 11:119271851-119271851	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1245C>A; p.G415G; 11:119278527-119278527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2680G>T; p.E894*; 11:119299740-119299740	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1259G>A; p.R420Q; 11:119278541-119278541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.592A>C; p.T198P; 11:119273869-119273869	pancreas	other; adenoma	Substitution - Missense
c.1199T>C; p.M400T; 11:119278269-119278269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2024C>T; p.S675F; 11:119287934-119287934	skin	malignant_melanoma	Substitution - Missense
c.1258C>T; p.R420*; 11:119278540-119278540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1258C>T; p.R420*; 11:119278540-119278540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1199T>C; p.M400T; 11:119278269-119278269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1258C>T; p.R420*; 11:119278540-119278540	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Nonsense
c.896G>A; p.R299H; 11:119276023-119276023	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.861A>G; p.K287K; 11:119274945-119274945	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1227+5G>A; p.?; 11:119278302-119278302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Unknown
c.1188T>C; p.C396C; 11:119278258-119278258	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188T>C; p.C396C; 11:119278258-119278258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.747+1G>A; p.?; 11:119274025-119274025	lung	carcinoma; adenocarcinoma	Unknown
c.1227+2T>C; p.?; 11:119278299-119278299	pancreas	carcinoma	Unknown
c.1227+2T>C; p.?; 11:119278299-119278299	pancreas	carcinoma	Unknown
c.1227+2T>C; p.?; 11:119278299-119278299	pancreas	carcinoma	Unknown
c.1190G>T; p.G397V; 11:119278260-119278260	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1010A>G; p.Y337C; 11:119277759-119277759	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1184C>T; p.P395L; 11:119278254-119278254	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1276A>C; p.T426P; 11:119278558-119278558	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1319G>A; p.G440D; 11:119278601-119278601	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1276A>C; p.T426P; 11:119278558-119278558	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	skin	malignant_melanoma	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1250C>T; p.P417L; 11:119278532-119278532	skin	malignant_melanoma	Substitution - Missense
c.397T>C; p.F133L; 11:119232649-119232649	breast	carcinoma	Substitution - Missense
c.1139T>G; p.L380R; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.298T>G; p.S100A; 11:119232550-119232550	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2269G>A; p.A757T; 11:119298375-119298375	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1249C>G; p.P417A; 11:119278531-119278531	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1767A>T; p.S589S; 11:119285392-119285392	liver	carcinoma	Substitution - coding silent
c.1767A>T; p.S589S; 11:119285392-119285392	liver	carcinoma	Substitution - coding silent
c.1249C>G; p.P417A; 11:119278531-119278531	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.19A>T; p.K7*; 11:119206436-119206436	prostate	carcinoma	Substitution - Nonsense
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1096_1227del132; p.Q367_E410del44; 11:119278166-119278297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.1254C>A; p.F418L; 11:119278536-119278536	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.1112A>G; p.Y371C; 11:119278182-119278182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1254C>A; p.F418L; 11:119278536-119278536	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.429G>T; p.E143D; 11:119232681-119232681	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1430A>T; p.K477M; 11:119278712-119278712	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1127C>T; p.S376F; 11:119278197-119278197	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.1186T>C; p.C396R; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.152T>C; p.V51A; 11:119206569-119206569	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2030C>T; p.A677V; 11:119287940-119287940	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1208C>T; p.S403F; 11:119278278-119278278	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1208C>T; p.S403F; 11:119278278-119278278	large_intestine; colon	carcinoma	Substitution - Missense
c.617G>A; p.R206Q; 11:119273894-119273894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>A; p.R206Q; 11:119273894-119273894	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2446G>A; p.G816S; 11:119299506-119299506	skin	malignant_melanoma	Substitution - Missense
c.1186T>G; p.C396G; 11:119278256-119278256	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2192A>G; p.Y731C; 11:119297422-119297422	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1201T>C; p.C401R; 11:119278271-119278271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1096-1G>C; p.?; 11:119278165-119278165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1096-1G>C; p.?; 11:119278165-119278165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Unknown
c.1096-1G>C; p.?; 11:119278165-119278165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.1201T>C; p.C401R; 11:119278271-119278271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1175_1228-37del229; p.?; 11:119278245-119278473	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1151G>A; p.C384Y; 11:119278221-119278221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.239G>A; p.S80N; 11:119232491-119232491	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2630C>T; p.A877V; 11:119299690-119299690	skin	malignant_melanoma	Substitution - Missense
c.2291C>T; p.P764L; 11:119298397-119298397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm	Substitution - Missense
c.1103_1168del66; p.E369_D390del; 11:119278173-119278238	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Deletion - In frame
c.1082_1095+9del23; p.?; 11:119277831-119277853	skin	malignant_melanoma	Unknown
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.1246T>A; p.C416S; 11:119278528-119278528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1246T>A; p.C416S; 11:119278528-119278528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1246T>A; p.C416S; 11:119278528-119278528	skin	malignant_melanoma	Substitution - Missense
c.1211G>A; p.C404Y; 11:119278281-119278281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1818T>C; p.S606S; 11:119285443-119285443	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1376A>T; p.D459V; 11:119278658-119278658	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2405G>A; p.W802*; 11:119298511-119298511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1786C>T; p.P596S; 11:119285411-119285411	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1141T>G; p.C381G; 11:119278211-119278211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2190G>A; p.T730T; 11:119297420-119297420	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.562G>T; p.E188*; 11:119271853-119271853	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2234C>T; p.T745I; 11:119297464-119297464	skin	malignant_melanoma	Substitution - Missense
c.1139T>C; p.L380P; 11:119278209-119278209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.686A>T; p.D229V; 11:119273963-119273963	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2144A>C; p.Q715P; 11:119297025-119297025	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.854_855delTT; p.I285fs*26; 11:119274938-119274939	liver	carcinoma	Deletion - Frameshift
c.1248T>G; p.C416W; 11:119278530-119278530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2268C>T; p.A756A; 11:119298374-119298374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1248T>G; p.C416W; 11:119278530-119278530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1594C>T; p.P532S; 11:119285219-119285219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]