Entrez Gene

Basic Information
Gene ID	2146
Name	EZH2
Synonymous	enhancer of zeste 2 polycomb repressive complex 2 subunit;EZH2;enhancer of zeste 2 polycomb repressive complex 2 subunit
Definition	enhancer of zeste homolog 2\|histone-lysine N-methyltransferase EZH2\|lysine N-methyltransferase 6
Position	7q35-q36
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.1936T>C; p.Y646H; 7:148811636-148811636	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1931C>G; p.S644*; 7:148811641-148811641	breast	carcinoma	Substitution - Nonsense
c.2168C>T; p.T723I; 7:148809098-148809098	breast	carcinoma	Substitution - Missense
c.555C>T; p.D185D; 7:148828810-148828810	breast	carcinoma	Substitution - coding silent
c.1544A>G; p.K515R; 7:148815508-148815508	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.118-4delT; p.?; 7:148846602-148846602	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Unknown
c.363G>C; p.M121I; 7:148832634-148832634	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.484G>T; p.E162*; 7:148829728-148829728	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1505G>A; p.R502Q; 7:148816684-148816684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.721A>C; p.K241Q; 7:148827171-148827171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2085G>A; p.S695S; 7:148809335-148809335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.233G>A; p.R78H; 7:148846483-148846483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1634A>C; p.Q545P; 7:148814952-148814952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2178G>T; p.E726D; 7:148809088-148809088	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2233G>A; p.E745K; 7:148807669-148807669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2233G>A; p.E745K; 7:148807669-148807669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.867T>C; p.C289C; 7:148826494-148826494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1201G>T; p.E401*; 7:148817916-148817916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.697G>T; p.D233Y; 7:148827195-148827195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1060C>T; p.R354C; 7:148818057-148818057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2004C>T; p.C668C; 7:148810358-148810358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2033T>G; p.F678C; 7:148809387-148809387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.736G>T; p.E246*; 7:148826625-148826625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1981A>G; p.K661E; 7:148810381-148810381	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.625+1G>T; p.?; 7:148828739-148828739	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.1718C>T; p.T573I; 7:148814092-148814092	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1718C>T; p.T573I; 7:148814092-148814092	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.449T>C; p.I150T; 7:148829763-148829763	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1991A>G; p.D664G; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1991A>G; p.D664G; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1154G>C; p.S385T; 7:148817963-148817963	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1991A>G; p.D664G; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1728C>G; p.C576W; 7:148814082-148814082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.1526G>C; p.R509T; 7:148815526-148815526	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.782C>A; p.T261N; 7:148826579-148826579	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.435C>A; p.F145L; 7:148829777-148829777	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2069G>A; p.R690H; 7:148809351-148809351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; intraabdominal	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2139A>G; p.I713M; 7:148809127-148809127	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2175_2175delA; p.E726fs*14; 7:148809091-148809091	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Deletion - Frameshift
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; mediastinum	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; B_cell_lymphoma_unspecified	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1159A>T; p.R387W; 7:148817958-148817958	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2029+1G>C; p.?; 7:148810332-148810332	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Unknown
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.184C>T; p.Q62*; 7:148846532-148846532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1770T>G; p.C590W; 7:148814040-148814040	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2143_2143delA; p.I715fs*25; 7:148809123-148809123	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1967C>T; p.A656V; 7:148810395-148810395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1967C>T; p.A656V; 7:148810395-148810395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.179G>A; p.W60*; 7:148846537-148846537	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.797G>A; p.G266E; 7:148826564-148826564	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.729-2delA; p.?; 7:148826634-148826634	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Unknown
c.755_756insC; p.G254fs*6; 7:148826605-148826606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.1885T>C; p.W629R; 7:148811687-148811687	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.374A>T; p.E125V; 7:148829838-148829838	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.754C>G; p.L252V; 7:148826607-148826607	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.2025C>A; p.N675K; 7:148810337-148810337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2025C>A; p.N675K; 7:148810337-148810337	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2008T>C; p.F670L; 7:148810354-148810354	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1505G>A; p.R502Q; 7:148816684-148816684	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Missense
c.2187_2188insT; p.D730fs*1; 7:148809078-148809079	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Insertion - Frameshift
c.2187_2188insT; p.D730fs*1; 7:148809078-148809079	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.2187_2188insT; p.D730fs*1; 7:148809078-148809079	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.2187_2188insT; p.D730fs*1; 7:148809078-148809079	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Insertion - Frameshift
c.13G>T; p.G5W; 7:148847286-148847286	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1175_1176delAA; p.E392fs*7; 7:148817941-148817942	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1642_1643insT; p.C548fs*2; 7:148814943-148814944	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.172C>T; p.Q58*; 7:148846544-148846544	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; AIDS_related_lymphoma	Substitution - Missense
c.1936T>C; p.Y646H; 7:148811636-148811636	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1920T>A; p.N640K; 7:148811652-148811652	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2075C>T; p.A692V; 7:148809345-148809345	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.450_450delA; p.N152fs*15; 7:148829762-148829762	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1712G>A; p.C571Y; 7:148814098-148814098	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.434T>C; p.F145S; 7:148829778-148829778	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.434T>C; p.F145S; 7:148829778-148829778	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.965A>G; p.N322S; 7:148819630-148819630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.216_217delTT; p.S73fs*8; 7:148846499-148846500	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.619C>T; p.R207*; 7:148828746-148828746	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.247-2A>G; p.?; 7:148832752-148832752	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.1774_1777delACTT; p.T592fs*82; 7:148814033-148814036	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1978G>C; p.G660R; 7:148810384-148810384	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1436C>A; p.S479Y; 7:148816753-148816753	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2054_2054delA; p.K685fs*12; 7:148809366-148809366	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.387T>A; p.H129Q; 7:148829825-148829825	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1003G>A; p.G335R; 7:148818114-148818114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1976G>A; p.R659K; 7:148810386-148810386	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.324_324delC; p.I109fs*1; 7:148832673-148832673	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage	Deletion - Frameshift
c.475G>A; p.G159R; 7:148829737-148829737	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.475G>A; p.G159R; 7:148829737-148829737	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1691_1691delG; p.G564fs*111; 7:148814119-148814119	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.1588C>A; p.H530N; 7:148814998-148814998	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.458A>G; p.Y153C; 7:148829754-148829754	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1582T>C; p.C528R; 7:148815004-148815004	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1730C>T; p.P577L; 7:148814080-148814080	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2081A>G; p.H694R; 7:148809339-148809339	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; mast_cell_neoplasm	Substitution - Missense
c.1212_1216delGAAGA; p.K405fs*2; 7:148817901-148817905	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.817C>T; p.Q273*; 7:148826544-148826544	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.394C>T; p.P132S; 7:148829818-148829818	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1992T>A; p.D664E; 7:148810370-148810370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.745G>T; p.E249*; 7:148826616-148826616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.703_703G>AA; p.G235fs*11; 7:148827189-148827189	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Complex - frameshift
c.2191T>A; p.Y731N; 7:148809075-148809075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1525A>G; p.R509G; 7:148815527-148815527	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.562G>A; p.D188N; 7:148828803-148828803	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1779_1780delTG; p.C593fs*4; 7:148814030-148814031	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1834C>T; p.Q612*; 7:148813976-148813976	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1513_1513delG; p.A505fs*9; 7:148815539-148815539	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.492_493insGT; p.F165fs*3; 7:148828872-148828873	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Insertion - Frameshift
c.2078A>C; p.N693T; 7:148809342-148809342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.492_493insGT; p.F165fs*3; 7:148828872-148828873	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Insertion - Frameshift
c.1505+1G>T; p.?; 7:148816683-148816683	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.1682G>A; p.R561H; 7:148814128-148814128	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1697G>A; p.R566H; 7:148814113-148814113	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1697G>A; p.R566H; 7:148814113-148814113	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage	Substitution - Missense
c.446_447delTA; p.L149fs*5; 7:148829765-148829766	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Deletion - Frameshift
c.403G>A; p.G135R; 7:148829809-148829809	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1991A>C; p.D664A; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.2110G>C; p.V704L; 7:148809310-148809310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2228_2229insGCCCCG; p.G743_I744insPR; 7:148807673-148807674	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.2233G>A; p.E745K; 7:148807669-148807669	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.444_445insGAA; p.E148_L149insE; 7:148829767-148829768	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - In frame
c.2199C>A; p.Y733*; 7:148807703-148807703	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Nonsense
c.2199C>A; p.Y733*; 7:148807703-148807703	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.187C>T; p.R63*; 7:148846529-148846529	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.2199C>A; p.Y733*; 7:148807703-148807703	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; AIDS_related_lymphoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>G; p.Y646C; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1798delG; p.D600fs*75; 7:148814012-148814012	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - Frameshift
c.1033G>A; p.A345T; 7:148818084-148818084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.47G>A; p.R16Q; 7:148847252-148847252	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1983_1983delA; p.V662fs*13; 7:148810379-148810379	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1991A>T; p.D664V; 7:148810371-148810371	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2045C>G; p.A682G; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.786_787insC; p.N263fs*8; 7:148826574-148826575	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Insertion - Frameshift
c.1742C>T; p.A581V; 7:148814068-148814068	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1876G>A; p.V626M; 7:148811696-148811696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.1660T>C; p.C554R; 7:148814926-148814926	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2188_2189insT; p.D730fs*8; 7:148809077-148809078	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.837C>G; p.H279Q; 7:148826524-148826524	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Substitution - Missense
c.338G>A; p.W113*; 7:148832659-148832659	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.1487A>G; p.K496R; 7:148816702-148816702	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2083T>C; p.S695P; 7:148809337-148809337	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.730T>G; p.Y244D; 7:148826631-148826631	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.835C>T; p.H279Y; 7:148826526-148826526	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1680C>A; p.N560K; 7:148814130-148814130	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.727A>C; p.K243Q; 7:148827165-148827165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_eosinophilic_leukaemia-hypereosinophilic_syndrome	Substitution - Missense
c.2152_2153delAA; p.K718fs*12; 7:148809113-148809114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - Frameshift
c.2152_2153delAA; p.K718fs*12; 7:148809113-148809114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.763G>A; p.A255T; 7:148826598-148826598	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1978G>A; p.G660R; 7:148810384-148810384	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.862C>T; p.R288*; 7:148826499-148826499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.862C>T; p.R288*; 7:148826499-148826499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1966_1966delG; p.A656fs*19; 7:148810396-148810396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.305A>G; p.N102S; 7:148832692-148832692	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.305A>G; p.N102S; 7:148832692-148832692	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2045C>T; p.A682V; 7:148809375-148809375	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2177A>T; p.E726V; 7:148809089-148809089	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.933_933T>GGCATA; p.Y311fs*1; 7:148819662-148819662	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; retroperitoneum	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Hodgkin_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; B_cell_lymphoma_unspecified	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.863G>A; p.R288Q; 7:148826498-148826498	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1937A>C; p.Y646S; 7:148811635-148811635	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2191T>G; p.Y731D; 7:148809075-148809075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.446T>A; p.L149Q; 7:148829766-148829766	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1673-4G>C; p.?; 7:148814141-148814141	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.2191T>G; p.Y731D; 7:148809075-148809075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1976delG; p.R659fs*16; 7:148810386-148810386	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.574G>A; p.D192N; 7:148828791-148828791	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2080C>T; p.H694Y; 7:148809340-148809340	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2138T>C; p.I713T; 7:148809128-148809128	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2232_2233insATC; p.I744_E745insI; 7:148807669-148807670	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.949G>T; p.E317*; 7:148819646-148819646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.2079T>A; p.N693K; 7:148809341-148809341	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.397T>C; p.Y133H; 7:148829815-148829815	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2079T>A; p.N693K; 7:148809341-148809341	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1947+39_1947+42delATAC; p.?; 7:148811583-148811586	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.2079T>A; p.N693K; 7:148809341-148809341	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.437T>A; p.I146N; 7:148829775-148829775	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.949_950delGA; p.E317fs*29; 7:148819645-148819646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.2048C>T; p.T683I; 7:148809372-148809372	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1408C>T; p.Q470*; 7:148817224-148817224	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2029G>C; p.D677H; 7:148810333-148810333	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.597G>C; p.K199N; 7:148828768-148828768	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.2009T>C; p.F670S; 7:148810353-148810353	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1135G>T; p.E379*; 7:148817982-148817982	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2020T>G; p.L674V; 7:148810342-148810342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2020T>G; p.L674V; 7:148810342-148810342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2180_2182TGT>GG; p.L727fs*13; 7:148809084-148809086	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Complex - frameshift
c.2195+1G>A; p.?; 7:148809070-148809070	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.2195+1G>A; p.?; 7:148809070-148809070	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.484+13C>T; p.?; 7:148829715-148829715	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.2195+1G>A; p.?; 7:148809070-148809070	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.188_189insA; p.R64fs*18; 7:148846527-148846528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Insertion - Frameshift
c.2068C>T; p.R690C; 7:148809352-148809352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.73C>T; p.R25*; 7:148847226-148847226	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.2068C>T; p.R690C; 7:148809352-148809352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2068C>T; p.R690C; 7:148809352-148809352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1682G>C; p.R561P; 7:148814128-148814128	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1922A>T; p.E641V; 7:148811650-148811650	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1922A>T; p.E641V; 7:148811650-148811650	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.65_66delAG; p.E22fs*14; 7:148847233-148847234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1657C>T; p.Q553*; 7:148814929-148814929	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.890A>G; p.H297R; 7:148826471-148826471	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1657C>T; p.Q553*; 7:148814929-148814929	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2230_2231insTGCAT; p.I744fs*>10; 7:148807671-148807672	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.434T>G; p.F145C; 7:148829778-148829778	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1992T>G; p.D664E; 7:148810370-148810370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1355delA; p.Y452fs*11; 7:148817277-148817277	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1907C>T; p.P636L; 7:148811665-148811665	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; AIDS_related_lymphoma	Substitution - Missense
c.2231_2232insTGCAT; p.E745fs*>9; 7:148807670-148807671	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1040G>A; p.R347Q; 7:148818077-148818077	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1969G>C; p.D657H; 7:148810393-148810393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2007C>G; p.S669R; 7:148810355-148810355	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1672+2_1673+3insCCT; p.?; 7:148814911-148814912	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1672+5G>A; p.?; 7:148814909-148814909	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.2078A>T; p.N693I; 7:148809342-148809342	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2035G>A; p.V679M; 7:148809385-148809385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2035G>A; p.V679M; 7:148809385-148809385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2035G>A; p.V679M; 7:148809385-148809385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2035G>A; p.V679M; 7:148809385-148809385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.982C>T; p.Q328*; 7:148819613-148819613	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.1672+5G>T; p.?; 7:148814909-148814909	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.1216_1219delAAAG; p.K406fs*17; 7:148817898-148817901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.1477C>T; p.P493S; 7:148816712-148816712	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1708C>T; p.Q570*; 7:148814102-148814102	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2084C>T; p.S695L; 7:148809336-148809336	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2084C>T; p.S695L; 7:148809336-148809336	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2050C>T; p.R684C; 7:148809370-148809370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2050C>T; p.R684C; 7:148809370-148809370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1119_1120insC; p.T374fs*3; 7:148817997-148817998	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1992_1997delTAAATA; p.K665_Y666del; 7:148810365-148810370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - In frame
c.1200_1203delAGAA; p.E401fs*22; 7:148817914-148817917	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Deletion - Frameshift
c.2226_2227insAAAACC; p.V742_G743insKT; 7:148807675-148807676	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.1114_1115insC; p.T374fs*3; 7:148818002-148818003	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.2111-1G>A; p.?; 7:148809156-148809156	kidney	other; neoplasm	Unknown
c.1633C>T; p.Q545*; 7:148814953-148814953	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.182A>G; p.K61R; 7:148846534-148846534	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1768T>A; p.C590S; 7:148814042-148814042	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2030-1G>A; p.?; 7:148809391-148809391	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.17A>T; p.K6M; 7:148847282-148847282	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1525A>T; p.R509*; 7:148815527-148815527	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1283A>C; p.N428T; 7:148817349-148817349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2202C>T; p.S734S; 7:148807700-148807700	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.764C>T; p.A255V; 7:148826597-148826597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2173G>A; p.E725K; 7:148809093-148809093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.576T>C; p.D192D; 7:148828789-148828789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.621A>G; p.R207R; 7:148828744-148828744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2173G>A; p.E725K; 7:148809093-148809093	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2139A>G; p.I713M; 7:148809127-148809127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.184C>A; p.Q62K; 7:148846532-148846532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.184C>T; p.Q62*; 7:148846532-148846532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1253G>A; p.R418Q; 7:148817379-148817379	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1253G>A; p.R418Q; 7:148817379-148817379	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.119G>T; p.S40I; 7:148846597-148846597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.75A>T; p.R25R; 7:148847224-148847224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.747A>G; p.E249E; 7:148826614-148826614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.745G>A; p.E249K; 7:148826616-148826616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>A; p.E249K; 7:148826616-148826616	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1919A>G; p.N640S; 7:148811653-148811653	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.983A>G; p.Q328R; 7:148819612-148819612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.983A>G; p.Q328R; 7:148819612-148819612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.898T>C; p.C300R; 7:148826463-148826463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2193C>T; p.Y731Y; 7:148809073-148809073	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2193C>T; p.Y731Y; 7:148809073-148809073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.937C>T; p.R313W; 7:148819658-148819658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>C; p.D185H; 7:148828812-148828812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.434T>C; p.F145S; 7:148829778-148829778	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>A; p.R207Q; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2000T>C; p.M667T; 7:148810362-148810362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.951A>G; p.E317E; 7:148819644-148819644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2002T>A; p.C668S; 7:148810360-148810360	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.604G>T; p.D202Y; 7:148828761-148828761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.233G>A; p.R78H; 7:148846483-148846483	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>A; p.G159R; 7:148829737-148829737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.619C>A; p.R207R; 7:148828746-148828746	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.619C>A; p.R207R; 7:148828746-148828746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.619C>A; p.R207R; 7:148828746-148828746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.619C>A; p.R207R; 7:148828746-148828746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.620G>C; p.R207P; 7:148828745-148828745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1730C>T; p.P577L; 7:148814080-148814080	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.926A>G; p.N309S; 7:148819669-148819669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>T; p.R207L; 7:148828745-148828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>T; p.D664Y; 7:148810372-148810372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>T; p.D664Y; 7:148810372-148810372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.864A>G; p.R288R; 7:148826497-148826497	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1221T>C; p.D407D; 7:148817896-148817896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2137A>G; p.I713V; 7:148809129-148809129	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2137A>G; p.I713V; 7:148809129-148809129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1100G>A; p.S367N; 7:148818017-148818017	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1968T>C; p.A656A; 7:148810394-148810394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2058T>C; p.G686G; 7:148809362-148809362	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.507A>C; p.E169D; 7:148828858-148828858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.507A>C; p.E169D; 7:148828858-148828858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1184delG; p.G395fs*29; 7:148817933-148817933	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1072C>T; p.R358C; 7:148818045-148818045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.744C>T; p.T248T; 7:148826617-148826617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.727A>G; p.K243E; 7:148827165-148827165	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.727A>G; p.K243E; 7:148827165-148827165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.552T>C; p.D184D; 7:148828813-148828813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.872A>C; p.K291T; 7:148826489-148826489	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.185A>G; p.Q62R; 7:148846531-148846531	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.185A>G; p.Q62R; 7:148846531-148846531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.185A>G; p.Q62R; 7:148846531-148846531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.667A>T; p.I223F; 7:148827225-148827225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.451A>C; p.K151Q; 7:148829761-148829761	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1741G>A; p.A581T; 7:148814069-148814069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1038G>A; p.E346E; 7:148818079-148818079	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.435C>T; p.F145F; 7:148829777-148829777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1608C>A; p.D536E; 7:148814978-148814978	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.849G>A; p.T283T; 7:148826512-148826512	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1872T>G; p.S624S; 7:148811700-148811700	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.863G>A; p.R288Q; 7:148826498-148826498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1034C>A; p.A345D; 7:148818083-148818083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2080C>T; p.H694Y; 7:148809340-148809340	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1911G>A; p.V637V; 7:148811661-148811661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261T>C; p.S87S; 7:148832736-148832736	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.730T>C; p.Y244H; 7:148826631-148826631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2079T>C; p.N693N; 7:148809341-148809341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1381_1382insTA; p.R461fs*3; 7:148817250-148817251	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2079T>C; p.N693N; 7:148809341-148809341	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.18G>A; p.K6K; 7:148847281-148847281	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.731A>G; p.Y244C; 7:148826630-148826630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.193A>G; p.I65V; 7:148846523-148846523	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2051G>A; p.R684H; 7:148809369-148809369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.638G>A; p.R213H; 7:148827254-148827254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.575A>G; p.D192G; 7:148828790-148828790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890A>G; p.H297R; 7:148826471-148826471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.804T>C; p.N268N; 7:148826557-148826557	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1990G>A; p.D664N; 7:148810372-148810372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.E317K; 7:148819646-148819646	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.755T>C; p.L252P; 7:148826606-148826606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1636A>C; p.N546H; 7:148814950-148814950	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2022G>A; p.L674L; 7:148810340-148810340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.728+7A>G; p.?; 7:148827157-148827157	liver	carcinoma	Unknown
c.728+7A>G; p.?; 7:148827157-148827157	liver	carcinoma	Unknown
c.2024A>G; p.N675S; 7:148810338-148810338	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.492G>T; p.G164G; 7:148828873-148828873	liver	carcinoma	Substitution - coding silent
c.492G>T; p.G164G; 7:148828873-148828873	liver	carcinoma	Substitution - coding silent
c.2159C>T; p.A720V; 7:148809107-148809107	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1657C>G; p.Q553E; 7:148814929-148814929	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1505G>A; p.R502Q; 7:148816684-148816684	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2136G>A; p.R712R; 7:148809130-148809130	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1036G>A; p.E346K; 7:148818081-148818081	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.101G>T; p.R34L; 7:148847198-148847198	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.118A>T; p.S40C; 7:148846598-148846598	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.729-3C>T; p.?; 7:148826635-148826635	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1029C>G; p.L343L; 7:148818088-148818088	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1135G>C; p.E379Q; 7:148817982-148817982	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1033G>A; p.A345T; 7:148818084-148818084	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.958C>T; p.L320L; 7:148819637-148819637	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1880C>A; p.A627E; 7:148811692-148811692	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1667C>G; p.S556*; 7:148814919-148814919	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1698C>T; p.R566R; 7:148814112-148814112	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.191G>T; p.R64M; 7:148846525-148846525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1610G>A; p.S537N; 7:148814976-148814976	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.522G>T; p.L174F; 7:148828843-148828843	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2000T>C; p.M667T; 7:148810362-148810362	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2000T>C; p.M667T; 7:148810362-148810362	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.512T>C; p.F171S; 7:148828853-148828853	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>C; p.E338Q; 7:148818105-148818105	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1546+1G>A; p.?; 7:148815505-148815505	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1876G>A; p.V626M; 7:148811696-148811696	oesophagus	carcinoma	Substitution - Missense
c.1477C>T; p.P493S; 7:148816712-148816712	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	parathyroid	adenoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	parathyroid	adenoma	Substitution - Missense
c.46C>T; p.R16W; 7:148847253-148847253	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.885C>T; p.F295F; 7:148826476-148826476	skin	malignant_melanoma	Substitution - coding silent
c.677C>T; p.A226V; 7:148827215-148827215	skin	malignant_melanoma	Substitution - Missense
c.1937A>T; p.Y646F; 7:148811635-148811635	skin; neck	malignant_melanoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin	malignant_melanoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin	malignant_melanoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin	malignant_melanoma	Substitution - Missense
c.1936T>A; p.Y646N; 7:148811636-148811636	skin	malignant_melanoma	Substitution - Missense
c.425A>T; p.D142V; 7:148829787-148829787	skin	malignant_melanoma	Substitution - Missense
c.1250C>T; p.S417F; 7:148817382-148817382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1391G>A; p.G464E; 7:148817241-148817241	skin	malignant_melanoma	Substitution - Missense
c.1236C>T; p.S412S; 7:148817881-148817881	skin	malignant_melanoma	Substitution - coding silent
c.394C>T; p.P132S; 7:148829818-148829818	skin	malignant_melanoma	Substitution - Missense
c.1078A>G; p.R360G; 7:148818039-148818039	skin	malignant_melanoma	Substitution - Missense
c.625+1G>A; p.?; 7:148828739-148828739	skin	malignant_melanoma	Unknown
c.1117C>T; p.P373S; 7:148818000-148818000	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.686C>T; p.S229L; 7:148827206-148827206	skin	malignant_melanoma	Substitution - Missense
c.683C>T; p.S228F; 7:148827209-148827209	skin	malignant_melanoma	Substitution - Missense
c.1505+3G>A; p.?; 7:148816681-148816681	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1291C>T; p.P431S; 7:148817341-148817341	skin	malignant_melanoma	Substitution - Missense
c.1605T>G; p.C535W; 7:148814981-148814981	skin	malignant_melanoma	Substitution - Missense
c.118-2delA; p.?; 7:148846600-148846600	skin; sole	malignant_melanoma; acral_lentiginous	Unknown
c.1040G>A; p.R347Q; 7:148818077-148818077	skin	malignant_melanoma	Substitution - Missense
c.1613C>T; p.S538L; 7:148814973-148814973	skin	malignant_melanoma	Substitution - Missense
c.1559A>C; p.N520T; 7:148815027-148815027	small_intestine	carcinoid-endocrine_tumour	Substitution - Missense
c.763G>A; p.A255T; 7:148826598-148826598	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.128G>T; p.S43I; 7:148846588-148846588	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2000T>C; p.M667T; 7:148810362-148810362	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2233G>A; p.E745K; 7:148807669-148807669	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.555C>T; p.D185D; 7:148828810-148828810	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2018A>G; p.N673S; 7:148810344-148810344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.52C>T; p.R18C; 7:148847247-148847247	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>C; p.D185H; 7:148828812-148828812	thyroid	other; neoplasm	Substitution - Missense
c.1250C>T; p.S417F; 7:148817382-148817382	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1258C>G; p.Q420E; 7:148817374-148817374	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.542A>G; p.Y181C; 7:148828823-148828823	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.574G>T; p.D192Y; 7:148828791-148828791	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.791T>G; p.I264R; 7:148826570-148826570	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1613C>T; p.S538L; 7:148814973-148814973	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.434_435TC>AT; p.F145Y; 7:148829777-148829778	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1368C>T; p.F456F; 7:148817264-148817264	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1547-1G>C; p.?; 7:148815040-148815040	urinary_tract; bladder	carcinoma	Unknown
c.1689G>T; p.P563P; 7:148814121-148814121	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.812C>A; p.S271Y; 7:148826549-148826549	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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