Entrez Gene

Basic Information
Gene ID	861
Name	RUNX1
Synonymous	runt-related transcription factor 1;RUNX1;runt-related transcription factor 1
Definition	AML1-EVI-1 fusion protein\|CBF-alpha-2\|PEA2-alpha B\|PEBP2-alpha B\|SL3-3 enhancer factor 1 alpha B subunit\|SL3/AKV core-binding factor alpha B subunit\|acute myeloid leukemia 1 protein\|core-binding factor, runt domain, alpha subunit 2\|oncogene AML-1\|polyomav
Position	21q22.3
Gene Type	protein-coding

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

c.952T>G; p.S318A; 21:34799316-34799316	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.367_368insG; p.D123fs*15; 21:34880697-34880698	breast	carcinoma	Insertion - Frameshift
c.367_368insG; p.D123fs*15; 21:34880697-34880698	breast	carcinoma	Insertion - Frameshift
c.941_942delCT; p.S314fs*168; 21:34799326-34799327	breast	carcinoma	Deletion - Frameshift
c.416A>G; p.N139S; 21:34880649-34880649	breast	carcinoma	Substitution - Missense
c.351+1_351+2insG; p.?; 21:34886841-34886842	breast	carcinoma	Unknown
c.1011C>T; p.P337P; 21:34792567-34792567	breast	carcinoma	Substitution - coding silent
c.850_865del16; p.S284fs*22; 21:34799403-34799418	breast	carcinoma	Deletion - Frameshift
c.481_482insC; p.L161fs*52; 21:34880583-34880584	breast	carcinoma	Insertion - Frameshift
c.364G>C; p.G122R; 21:34880701-34880701	breast	carcinoma	Substitution - Missense
c.593A>G; p.D198G; 21:34859494-34859494	breast	carcinoma	Substitution - Missense
c.651_667del17; p.S218fs*4; 21:34834548-34834564	breast	carcinoma	Deletion - Frameshift
c.482T>C; p.L161P; 21:34880583-34880583	breast	carcinoma	Substitution - Missense
c.807_808insA; p.T270fs*>212; 21:34799460-34799461	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.393T>A; p.T131T; 21:34880672-34880672	breast	carcinoma	Substitution - coding silent
c.776_783delTTAACCCT; p.F259fs*>220; 21:34834432-34834439	breast	carcinoma	Deletion - Frameshift
c.796C>T; p.Q266*; 21:34834419-34834419	breast	carcinoma	Substitution - Nonsense
c.508+1G>C; p.?; 21:34880556-34880556	breast	carcinoma	Unknown
c.885_891delTGTGCAC; p.V296fs*13; 21:34799377-34799383	breast	carcinoma	Deletion - Frameshift
c.731C>T; p.A244V; 21:34834484-34834484	breast	carcinoma	Substitution - Missense
c.505_506insA; p.R169fs*44; 21:34880559-34880560	breast	carcinoma	Insertion - Frameshift
c.349A>T; p.K117*; 21:34886845-34886845	breast	carcinoma	Substitution - Nonsense
c.967+2_967+3insT; p.?; 21:34799298-34799299	breast	carcinoma	Unknown
c.565T>C; p.Y189H; 21:34859522-34859522	breast	carcinoma	Substitution - Missense
c.502G>C; p.G168R; 21:34880563-34880563	breast	carcinoma	Substitution - Missense
c.949C>T; p.L317F; 21:34799319-34799319	breast	carcinoma	Substitution - Missense
c.427_441del15; p.E143_A147delELRNA; 21:34880624-34880638	breast	carcinoma	Deletion - In frame
c.22G>C; p.E8Q; 21:35048878-35048878	breast	carcinoma	Substitution - Missense
c.334delC; p.L112fs*10; 21:34886860-34886860	breast	carcinoma	Deletion - Frameshift
c.735_736insC; p.T246fs*15; 21:34834479-34834480	breast	carcinoma	Insertion - Frameshift
c.759G>A; p.L253L; 21:34834456-34834456	breast	carcinoma	Substitution - coding silent
c.404G>A; p.G135D; 21:34880661-34880661	breast	carcinoma	Substitution - Missense
c.859_860insTA; p.Y287fs*25; 21:34799408-34799409	breast	carcinoma	Insertion - Frameshift
c.860_861insTA; p.L288fs*24; 21:34799407-34799408	breast	carcinoma	Insertion - Frameshift
c.372delT; p.P125fs*8; 21:34880693-34880693	breast	carcinoma	Deletion - Frameshift
c.946G>A; p.E316K; 21:34799322-34799322	breast	carcinoma	Substitution - Missense
c.1212C>T; p.H404H; 21:34792366-34792366	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.737C>T; p.T246M; 21:34834478-34834478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.345T>G; p.A115A; 21:34886849-34886849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.551C>T; p.P184L; 21:34859536-34859536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1048C>T; p.P350S; 21:34792530-34792530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.694C>T; p.R232W; 21:34834521-34834521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.337C>T; p.P113S; 21:34886857-34886857	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.479A>G; p.D160G; 21:34880586-34880586	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.35C>T; p.S12L; 21:35048865-35048865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.695G>T; p.R232L; 21:34834520-34834520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.26C>A; p.S9*; 21:35048874-35048874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.385_386insNNNNN; p.L129fs; 21:34880679-34880680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1036_1037insC; p.R346fs*137; 21:34792541-34792542	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1036_1037insC; p.R346fs*137; 21:34792541-34792542	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.547C>G; p.P183A; 21:34859540-34859540	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1036_1037insC; p.R346fs*137; 21:34792541-34792542	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1036_1037insC; p.R346fs*137; 21:34792541-34792542	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Insertion - Frameshift
c.1036_1037insC; p.R346fs*137; 21:34792541-34792542	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1036_1037insC; p.R346fs*137; 21:34792541-34792542	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.941_942delCT; p.S314fs*168; 21:34799326-34799327	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Deletion - Frameshift
c.352-10T>A; p.?; 21:34880723-34880723	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Unknown
c.352-10T>A; p.?; 21:34880723-34880723	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage_associated_with_MDS	Unknown
c.270_271ins26; p.(R91)fs; 21:34886923-34886924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.445G>A; p.A149T; 21:34880620-34880620	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.595G>A; p.G199R; 21:34859492-34859492	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.540_541insC; p.T181fs*32; 21:34859546-34859547	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.595G>A; p.G199R; 21:34859492-34859492	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Nonsense
c.1024_1025insGGGC; p.I342fs*142; 21:34792553-34792554	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Nonsense
c.501_506delTGGAAG; p.S167_G168delSG; 21:34880559-34880564	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.958C>T; p.R320*; 21:34799310-34799310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.419_420delAC; p.Y140fs*3; 21:34880645-34880646	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.1256_1266del11; p.V419fs*60; 21:34792312-34792322	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - Frameshift
c.968-10C>A; p.?; 21:34792620-34792620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.352-1insTTTAG; p.?; 21:34880713-34880714	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.342C>A; p.I114I; 21:34886852-34886852	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - coding silent
c.503_504ins9; p.G168_R169insRSG; 21:34880561-34880562	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.504_505insGAAGTGGA; p.R169fs*10; 21:34880560-34880561	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.342C>A; p.I114I; 21:34886852-34886852	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - coding silent
c.342C>A; p.I114I; 21:34886852-34886852	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.447A>G; p.A149A; 21:34880618-34880618	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - coding silent
c.971C>T; p.A324V; 21:34792607-34792607	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.784C>T; p.Q262*; 21:34834431-34834431	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.342C>A; p.I114I; 21:34886852-34886852	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.342C>A; p.I114I; 21:34886852-34886852	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - coding silent
c.428_429ins14; p.E143fs*7; 21:34880636-34880637	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Insertion - Frameshift
c.245_246insTGCTT; p.D84fs*40; 21:34886948-34886949	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1076_1077insC; p.V360fs*>122; 21:34792501-34792502	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1214_1215insACCT; p.Y406fs*78; 21:34792363-34792364	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.309_310insCT; p.T104fs*19; 21:34886884-34886885	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.667G>T; p.E223*; 21:34834548-34834548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1258_1280del23; p.G420fs*>54; 21:34792298-34792320	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1096_1103delATCGGCAT; p.I366fs*114; 21:34792475-34792482	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1096_1103delATCGGCAT; p.I366fs*114; 21:34792475-34792482	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.56G>A; p.R19K; 21:35048844-35048844	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.506_507ins11; p.R169fs*11; 21:34880558-34880559	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.502G>T; p.G168*; 21:34880563-34880563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Nonsense
c.494G>T; p.G165V; 21:34880571-34880571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.395_396delTG; p.V132fs*5; 21:34880669-34880670	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.445G>C; p.A149P; 21:34880620-34880620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.445G>C; p.A149P; 21:34880620-34880620	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.494G>T; p.G165V; 21:34880571-34880571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.167T>C; p.L56S; 21:34887027-34887027	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.167T>C; p.L56S; 21:34887027-34887027	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.167T>C; p.L56S; 21:34887027-34887027	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.167T>C; p.L56S; 21:34887027-34887027	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.167T>C; p.L56S; 21:34887027-34887027	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.712delG; p.V238fs*16; 21:34834503-34834503	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Deletion - Frameshift
c.274A>G; p.T92A; 21:34886920-34886920	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.167T>C; p.L56S; 21:34887027-34887027	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.167T>C; p.L56S; 21:34887027-34887027	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.578T>C; p.I193T; 21:34859509-34859509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.641C>T; p.T214I; 21:34834574-34834574	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.335_339delTGCCC; p.L112fs*24; 21:34886855-34886859	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.1164_1165insG; p.S389fs*94; 21:34792413-34792414	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.227G>A; p.R76H; 21:34886967-34886967	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.319C>T; p.R107C; 21:34886875-34886875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.338C>T; p.P113L; 21:34886856-34886856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1090_1103del14; p.I364fs*114; 21:34792475-34792488	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.338C>T; p.P113L; 21:34886856-34886856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.338C>T; p.P113L; 21:34886856-34886856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.338C>T; p.P113L; 21:34886856-34886856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1090_1103del14; p.I364fs*114; 21:34792475-34792488	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.493G>A; p.G165S; 21:34880572-34880572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1090_1103del14; p.I364fs*114; 21:34792475-34792488	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.338C>T; p.P113L; 21:34886856-34886856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.602G>A; p.R201Q; 21:34859485-34859485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1274C>A; p.P425Q; 21:34792304-34792304	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.318G>T; p.W106C; 21:34886876-34886876	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.318G>T; p.W106C; 21:34886876-34886876	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.318G>T; p.W106C; 21:34886876-34886876	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1014delG; p.L339fs*143; 21:34792564-34792564	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Deletion - Frameshift
c.508+1ins?; p.?; 21:34880555-34880556	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1153_1157delTACCC; p.Y385fs*96; 21:34792421-34792425	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Deletion - Frameshift
c.336_341delGCCCAT; p.P113_I114del; 21:34886853-34886858	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.330G>T; p.K110N; 21:34886864-34886864	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.508+5G>T; p.?; 21:34880552-34880552	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Unknown
c.423_423G>CCTTCC; p.A142fs*5; 21:34880642-34880642	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Complex - frameshift
c.291_292insCTCTG; p.V101fs*23; 21:34886902-34886903	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.469delA; p.R157fs*19; 21:34880596-34880596	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.583_584insAT; p.I195fs*17; 21:34859503-34859504	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.315C>G; p.H105Q; 21:34886879-34886879	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.531_532insATC; p.I177_T178insI; 21:34859555-34859556	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.416A>C; p.N139T; 21:34880649-34880649	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.531_532insATC; p.I177_T178insI; 21:34859555-34859556	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - In frame
c.251_252insC; p.H85fs*53; 21:34886942-34886943	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.967+1G>A; p.?; 21:34799300-34799300	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.266T>G; p.L89R; 21:34886928-34886928	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1034C>G; p.P345R; 21:34792544-34792544	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.269T>C; p.V90A; 21:34886925-34886925	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.610C>T; p.R204*; 21:34859477-34859477	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.610C>T; p.R204*; 21:34859477-34859477	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.610C>T; p.R204*; 21:34859477-34859477	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.610C>T; p.R204*; 21:34859477-34859477	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.424_425insGGGCAGG; p.A142fs*4; 21:34880640-34880641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.178_179insGG; p.A60fs*13; 21:34887015-34887016	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.660_661insC; p.F221fs*7; 21:34834554-34834555	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1065C>G; p.Y355*; 21:34792513-34792513	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.421T>C; p.S141P; 21:34880644-34880644	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.421T>C; p.S141P; 21:34880644-34880644	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.934_935insA; p.T312fs*171; 21:34799333-34799334	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.372_373ins10; p.P125fs*2; 21:34880692-34880693	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.508+1G>A; p.?; 21:34880556-34880556	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.497_498insTTCAACG; p.G168fs*47; 21:34880567-34880568	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.243_244insTG; p.L82fs*41; 21:34886950-34886951	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.593A>G; p.D198G; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.593A>G; p.D198G; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.593A>G; p.D198G; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.593A>G; p.D198G; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.593A>G; p.D198G; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.593A>G; p.D198G; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.523_524insTGCCT; p.T176fs*2; 21:34859563-34859564	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm	Insertion - Frameshift
c.1065_1065delC; p.S356fs*126; 21:34792513-34792513	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.314A>T; p.H105L; 21:34886880-34886880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.299C>T; p.S100F; 21:34886895-34886895	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.299C>T; p.S100F; 21:34886895-34886895	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.452T>G; p.M151R; 21:34880613-34880613	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.335T>C; p.L112P; 21:34886859-34886859	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.601C>G; p.R201G; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.482T>C; p.L161P; 21:34880583-34880583	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.496C>G; p.R166G; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.496C>G; p.R166G; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.496C>G; p.R166G; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.496C>G; p.R166G; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.694C>T; p.R232W; 21:34834521-34834521	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1247_1248insAGCCCCC; p.F416fs*69; 21:34792330-34792331	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.668A>G; p.E223G; 21:34834547-34834547	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.347_348ins34; p.F116fs*33; 21:34886846-34886847	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.493G>C; p.G165R; 21:34880572-34880572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.506_507insA; p.G170fs*43; 21:34880558-34880559	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.1190_1191insG; p.A398fs*85; 21:34792387-34792388	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.506_507insA; p.G170fs*43; 21:34880558-34880559	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Insertion - Frameshift
c.776_789del14; p.F259fs*219; 21:34834426-34834439	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1313_1314insG; p.S439fs*44; 21:34792264-34792265	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.492_493insTAG; p.V164_G165ins*; 21:34880572-34880573	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.423_424ins14; p.A142fs*8; 21:34880641-34880642	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.522T>G; p.T174T; 21:34859565-34859565	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - coding silent
c.440C>A; p.A147D; 21:34880625-34880625	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1265_1266delAG; p.E422fs*60; 21:34792312-34792313	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.320G>C; p.R107P; 21:34886874-34886874	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1396A>T; p.M466L; 21:34792182-34792182	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.297_298insAGAC; p.S100fs*39; 21:34886896-34886897	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.782_783insCC; p.Q262fs*50; 21:34834432-34834433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.507_508ins11; p.G170fs*10; 21:34880557-34880558	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.205G>C; p.G69R; 21:34886989-34886989	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.205G>C; p.G69R; 21:34886989-34886989	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.358delG; p.A120fs*2; 21:34880707-34880707	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.750_751insACCGT; p.A251fs*5; 21:34834464-34834465	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Insertion - Frameshift
c.358delG; p.A120fs*2; 21:34880707-34880707	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.329A>G; p.K110R; 21:34886865-34886865	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.329A>G; p.K110R; 21:34886865-34886865	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.329A>G; p.K110R; 21:34886865-34886865	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.497G>T; p.R166L; 21:34880568-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1344_1345insGAGC; p.Q449fs*35; 21:34792233-34792234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.442_443insGAGTAGAT; p.T148fs*7; 21:34880622-34880623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.442_443insGAGTAGAT; p.T148fs*7; 21:34880622-34880623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.419_420ins23; p.Y140fs*1; 21:34880645-34880646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.422C>T; p.S141L; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.184_185insGCGC; p.D62fs*77; 21:34887009-34887010	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Insertion - Frameshift
c.422C>T; p.S141L; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.422C>T; p.S141L; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.422C>T; p.S141L; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.422C>T; p.S141L; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.422C>T; p.S141L; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.422C>T; p.S141L; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.796C>T; p.Q266*; 21:34834419-34834419	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.1111_1112insT; p.M371fs*>111; 21:34792466-34792467	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.734C>T; p.P245L; 21:34834481-34834481	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.859_860insCAAT; p.Y287fs*197; 21:34799408-34799409	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Insertion - Frameshift
c.1111_1112insT; p.M371fs*>111; 21:34792466-34792467	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.422_423insAGGC; p.A142fs*3; 21:34880642-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1172_1176delCGCAG; p.A391fs*90; 21:34792402-34792406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.967+1delGTAA; p.?; 21:34799297-34799300	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Nonsense
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Nonsense
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.1073_1074insC; p.P359fs*124; 21:34792504-34792505	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.454_454delA; p.K152fs*24; 21:34880611-34880611	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.496C>T; p.R166*; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.900_901delGC; p.P301fs*>180; 21:34799367-34799368	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.937_938delCT; p.S314fs*168; 21:34799330-34799331	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.423_424insCCC; p.S141_A142insP; 21:34880641-34880642	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.188_194delCCGGCGC; p.A63fs*7; 21:34887000-34887006	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.312_313delGC; p.H105fs*32; 21:34886881-34886882	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.552G>T; p.P184P; 21:34859535-34859535	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - coding silent
c.432_441del10; p.R145fs*4; 21:34880624-34880633	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Deletion - Frameshift
c.486G>C; p.R162S; 21:34880579-34880579	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.486G>C; p.R162S; 21:34880579-34880579	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.291delC; p.L98fs*24; 21:34886903-34886903	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.291delC; p.L98fs*24; 21:34886903-34886903	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.291delC; p.L98fs*24; 21:34886903-34886903	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.300_301insC; p.V101fs*37; 21:34886893-34886894	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.480C>A; p.D160E; 21:34880585-34880585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.422delC; p.S141fs*4; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Deletion - Frameshift
c.749G>A; p.R250H; 21:34834466-34834466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.367_368insGG; p.D123fs*11; 21:34880697-34880698	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.989_990insCAGC; p.D332fs*>151; 21:34792588-34792589	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.361_362insCC; p.L121fs*2; 21:34880703-34880704	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.611G>T; p.R204L; 21:34859476-34859476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.751G>A; p.A251T; 21:34834464-34834464	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.325_326insTGCA; p.N109fs*30; 21:34886868-34886869	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.257_258insGT; p.G87fs*36; 21:34886936-34886937	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.622C>T; p.Q208*; 21:34834593-34834593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.424_425insGG; p.A142fs*4; 21:34880640-34880641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.479A>T; p.D160V; 21:34880586-34880586	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.284_285insTGG; p.P95_N96insG; 21:34886909-34886910	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.675_676insC; p.S226fs*2; 21:34834539-34834540	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.492_492C>AGGA; p.V164_G165insG; 21:34880573-34880573	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Insertion - In frame
c.777delT; p.F259fs*52; 21:34834438-34834438	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Deletion - Frameshift
c.119_173del55; p.F40fs*14; 21:34887021-34887075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1077_1078insTGGGGC; p.P359_V360insWG; 21:34792500-34792501	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.253C>A; p.H85N; 21:34886941-34886941	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.422_423insC; p.A142fs*2; 21:34880642-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.253C>A; p.H85N; 21:34886941-34886941	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.879delT; p.P294fs*17; 21:34799389-34799389	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.464_465ins60; p.V155_A156ins20; 21:34880600-34880601	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.253C>A; p.H85N; 21:34886941-34886941	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.112_166del55; p.R38fs*16; 21:34887028-34887082	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1153_1154insT; p.Y385fs*98; 21:34792424-34792425	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1058T>C; p.F353S; 21:34792520-34792520	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1108G>A; p.A370T; 21:34792470-34792470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.330G>C; p.K110N; 21:34886864-34886864	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1058T>C; p.F353S; 21:34792520-34792520	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.445_446ins22; p.A149fs*2; 21:34880619-34880620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.445_446ins22; p.A149fs*2; 21:34880619-34880620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.911_912insT; p.G305fs*>177; 21:34799356-34799357	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.195_223del29; p.A66fs*62; 21:34886971-34886999	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Deletion - Frameshift
c.401C>A; p.A134D; 21:34880664-34880664	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1190A>G; p.Q397R; 21:34792388-34792388	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1190A>G; p.Q397R; 21:34792388-34792388	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.445_446ins22; p.A149fs*2; 21:34880619-34880620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.445_446ins22; p.A149fs*2; 21:34880619-34880620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.335T>A; p.L112Q; 21:34886859-34886859	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.431T>C; p.L144P; 21:34880634-34880634	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.431T>C; p.L144P; 21:34880634-34880634	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.373delC; p.P125fs*8; 21:34880692-34880692	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1-30insC; p.?; 21:35048928-35048929	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1184delC; p.P395fs*>86; 21:34792394-34792394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.509-2A>C; p.?; 21:34859580-34859580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.575C>T; p.A192V; 21:34859512-34859512	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.667_668delGA; p.E223fs*4; 21:34834547-34834548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.494_495insCGGGGG; p.G165_R166insGG; 21:34880570-34880571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Insertion - In frame
c.334_335insCCC; p.T111_L112insP; 21:34886859-34886860	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Insertion - In frame
c.320G>A; p.R107H; 21:34886874-34886874	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.320G>A; p.R107H; 21:34886874-34886874	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.423_424insCC; p.A142fs*4; 21:34880641-34880642	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.710G>A; p.R237K; 21:34834505-34834505	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.320G>A; p.R107H; 21:34886874-34886874	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.583_584insAAAA; p.I195fs*19; 21:34859503-34859504	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.555A>T; p.Q185H; 21:34859532-34859532	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.352-1G>A; p.?; 21:34880714-34880714	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Unknown
c.488T>A; p.F163Y; 21:34880577-34880577	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.530T>C; p.I177T; 21:34859557-34859557	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.371_372ins10; p.P125fs*16; 21:34880693-34880694	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.287A>G; p.N96S; 21:34886907-34886907	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.296G>A; p.C99Y; 21:34886898-34886898	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.437A>T; p.N146I; 21:34880628-34880628	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.501T>A; p.S167R; 21:34880564-34880564	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.427_428ins25; p.E143fs*3; 21:34880637-34880638	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.896_897insA; p.T300fs*>182; 21:34799371-34799372	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.281G>T; p.S94I; 21:34886913-34886913	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.952_953insT; p.S318fs*165; 21:34799315-34799316	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.751_762>AAC; p.A251_N254>N; 21:34834453-34834464	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - deletion inframe
c.337C>G; p.P113A; 21:34886857-34886857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.589G>T; p.V197L; 21:34859498-34859498	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.474delT; p.F158fs*18; 21:34880591-34880591	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.474delT; p.F158fs*18; 21:34880591-34880591	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.598C>T; p.P200S; 21:34859489-34859489	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.422C>A; p.S141*; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.422C>A; p.S141*; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.422C>A; p.S141*; 21:34880643-34880643	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.417C>G; p.N139K; 21:34880648-34880648	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.418_419insT; p.Y140fs*4; 21:34880646-34880647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.441_442ins19; p.T148fs*2; 21:34880623-34880624	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1189_1189delC; p.Q397fs*85; 21:34792389-34792389	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.441_442ins19; p.T148fs*2; 21:34880623-34880624	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.865G>T; p.G289*; 21:34799403-34799403	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.508G>A; p.G170R; 21:34880557-34880557	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.384T>C; p.T128T; 21:34880681-34880681	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - coding silent
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.587C>T; p.T196I; 21:34859500-34859500	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.596G>C; p.G199A; 21:34859491-34859491	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.676_677insGC; p.E227fs*11; 21:34834538-34834539	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1015_1016ins12; p.A338_L339insQFPA; 21:34792562-34792563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.347T>C; p.F116S; 21:34886847-34886847	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1011_1012insC; p.A338fs*145; 21:34792566-34792567	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.510_510delG; p.S172fs*4; 21:34859577-34859577	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.593A>T; p.D198V; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.593A>T; p.D198V; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.513A>T; p.K171N; 21:34859574-34859574	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.593A>T; p.D198V; 21:34859494-34859494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.502G>C; p.G168R; 21:34880563-34880563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.443_444ins71; p.A149fs*8; 21:34880621-34880622	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1274C>T; p.P425L; 21:34792304-34792304	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.720_733del14; p.H242fs*14; 21:34834482-34834495	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.1262_1263insTGGGGGC; p.E422fs*63; 21:34792315-34792316	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.675_676insCGC; p.L225_S226insR; 21:34834539-34834540	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Insertion - In frame
c.328A>C; p.K110Q; 21:34886866-34886866	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.497_498insGTCG; p.G168fs*46; 21:34880567-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm	Insertion - Frameshift
c.492_493insTAGCC; p.G165fs*1; 21:34880572-34880573	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.492_493insTAGCC; p.G165fs*1; 21:34880572-34880573	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.425_426insCGGC; p.E143fs*2; 21:34880639-34880640	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.492_493insTAGCC; p.G165fs*1; 21:34880572-34880573	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.240_241insG; p.V81fs*57; 21:34886953-34886954	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Insertion - Frameshift
c.493_494insTTTTG; p.G165fs*13; 21:34880571-34880572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1217_1218insTGTA; p.Y407fs*>76; 21:34792360-34792361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1221_1225delCGGCG; p.G408fs*73; 21:34792353-34792357	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Deletion - Frameshift
c.449_449delC; p.M151fs*1; 21:34880616-34880616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.474_487del14; p.N159fs*49; 21:34880578-34880591	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.952delT; p.S318fs*10; 21:34799316-34799316	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - Frameshift
c.993_994ins10; p.D332fs*154; 21:34792584-34792585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.898_899insAA; p.T300fs*12; 21:34799369-34799370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Insertion - Frameshift
c.1007_1008insC; p.A338fs*>144; 21:34792570-34792571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.1005_1006insT; p.A338fs*>144; 21:34792572-34792573	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.179C>T; p.A60V; 21:34887015-34887015	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.613+41delGTACACCCTCCAGGCTG; p.?; 21:34859417-34859433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.613+41delGTACACCCTCCAGGCTG; p.?; 21:34859417-34859433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.735_736insC; p.T246fs*15; 21:34834479-34834480	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.724_737del14; p.H242fs*14; 21:34834478-34834491	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.967+2_967+5delTAAG; p.?; 21:34799296-34799299	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.446_447insTACCGC; p.A149_A150insTA; 21:34880618-34880619	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - In frame
c.497G>A; p.R166Q; 21:34880568-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.497G>A; p.R166Q; 21:34880568-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.497G>A; p.R166Q; 21:34880568-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.497G>A; p.R166Q; 21:34880568-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.497G>A; p.R166Q; 21:34880568-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.497G>A; p.R166Q; 21:34880568-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.492_493ins?; p.?; 21:34880572-34880573	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Unknown
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Nonsense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.494G>A; p.G165D; 21:34880571-34880571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.315C>A; p.H105Q; 21:34886879-34886879	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.494G>A; p.G165D; 21:34880571-34880571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.648_649insC; p.G217fs*11; 21:34834569-34834570	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.478G>T; p.D160Y; 21:34880587-34880587	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.478G>T; p.D160Y; 21:34880587-34880587	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.332C>A; p.T111N; 21:34886862-34886862	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.460C>T; p.Q154*; 21:34880605-34880605	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera	Substitution - Nonsense
c.399_399delG; p.A134fs*11; 21:34880666-34880666	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.484A>G; p.R162G; 21:34880581-34880581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1223_1224insG; p.A409fs*74; 21:34792354-34792355	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.484A>G; p.R162G; 21:34880581-34880581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.484A>G; p.R162G; 21:34880581-34880581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.340_344delATCGC; p.I114fs*22; 21:34886850-34886854	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.484A>G; p.R162G; 21:34880581-34880581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.484A>G; p.R162G; 21:34880581-34880581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.340_344delATCGC; p.I114fs*22; 21:34886850-34886854	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.423_429delGGCTGAG; p.A142fs*1; 21:34880636-34880642	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.507A>C; p.R169S; 21:34880558-34880558	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.964_965delTC; p.S322fs*160; 21:34799303-34799304	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Deletion - Frameshift
c.238_239insG; p.E80fs*58; 21:34886955-34886956	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1164_1165delGT; p.S389fs*93; 21:34792413-34792414	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1129_1130insT; p.Y377fs*106; 21:34792448-34792449	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.312_313insG; p.H105fs*33; 21:34886881-34886882	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.444_445ins22; p.A149fs*2; 21:34880620-34880621	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.291_292insGC; p.L98fs*25; 21:34886902-34886903	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.959_959G>AGGGCCCA; p.R320fs*165; 21:34799309-34799309	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Complex - frameshift
c.316T>C; p.W106R; 21:34886878-34886878	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.485G>A; p.R162K; 21:34880580-34880580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.485G>A; p.R162K; 21:34880580-34880580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.485G>A; p.R162K; 21:34880580-34880580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.395_396insT; p.M133fs*5; 21:34880669-34880670	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Insertion - Frameshift
c.424_432GCTGAGCTG>ACCCCC; p.A142_L144>TP; 21:34880633-34880641	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - deletion inframe
c.637_638insC; p.Q213fs*15; 21:34834577-34834578	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.676A>C; p.S226R; 21:34834539-34834539	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.424_425insTCCC; p.A142fs*3; 21:34880640-34880641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.352_352delG; p.V118fs*4; 21:34880713-34880713	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Deletion - Frameshift
c.524T>C; p.L175P; 21:34859563-34859563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1142_1143insACCT; p.P383fs*101; 21:34792435-34792436	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.493G>T; p.G165C; 21:34880572-34880572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.539_540insG; p.F180fs*33; 21:34859547-34859548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.843C>G; p.Y281*; 21:34799425-34799425	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Nonsense
c.287_288insA; p.N96fs*42; 21:34886906-34886907	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1031_1032insC; p.R346fs*>136; 21:34792546-34792547	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.268_351del84; p.V90_K117del; 21:34886843-34886926	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Deletion - In frame
c.425C>A; p.A142D; 21:34880640-34880640	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1031_1032insC; p.R346fs*>136; 21:34792546-34792547	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1085C>T; p.S362L; 21:34792493-34792493	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.223G>T; p.D75Y; 21:34886971-34886971	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.318G>C; p.W106C; 21:34886876-34886876	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.318G>C; p.W106C; 21:34886876-34886876	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.223G>T; p.D75Y; 21:34886971-34886971	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.338C>A; p.P113H; 21:34886856-34886856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.491T>C; p.V164A; 21:34880574-34880574	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.491T>C; p.V164A; 21:34880574-34880574	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.806-13T>A; p.?; 21:34799475-34799475	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.155T>A; p.M52K; 21:34887039-34887039	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.292delC; p.L98fs*24; 21:34886902-34886902	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Deletion - Frameshift
c.424_425insGGG; p.S141_A142insG; 21:34880640-34880641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.155T>A; p.M52K; 21:34887039-34887039	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.292delC; p.L98fs*24; 21:34886902-34886902	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.292delC; p.L98fs*24; 21:34886902-34886902	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.292delC; p.L98fs*24; 21:34886902-34886902	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.571_572insA; p.R191fs*22; 21:34859515-34859516	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.497_498ins9; p.R166_S167insSNR; 21:34880567-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.837G>A; p.W279*; 21:34799431-34799431	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.321C>A; p.R107R; 21:34886873-34886873	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.445G>A; p.A149T; 21:34880620-34880620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.958C>T; p.R320*; 21:34799310-34799310	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.595G>A; p.G199R; 21:34859492-34859492	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.595G>A; p.G199R; 21:34859492-34859492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.380G>A; p.G127D; 21:34880685-34880685	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.447A>G; p.A149A; 21:34880618-34880618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.784C>T; p.Q262*; 21:34834431-34834431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.514delA; p.S172fs*4; 21:34859573-34859573	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.441T>A; p.A147A; 21:34880624-34880624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1184C>T; p.P395L; 21:34792394-34792394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.960A>G; p.R320R; 21:34799308-34799308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.274A>G; p.T92A; 21:34886920-34886920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.G165S; 21:34880572-34880572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.577A>G; p.I193V; 21:34859510-34859510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.G165S; 21:34880572-34880572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.599C>A; p.P200H; 21:34859488-34859488	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.G165S; 21:34880572-34880572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.437A>G; p.N146S; 21:34880628-34880628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.437A>G; p.N146S; 21:34880628-34880628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.P184L; 21:34859536-34859536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.522T>C; p.T174T; 21:34859565-34859565	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.520A>T; p.T174S; 21:34859567-34859567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.342C>T; p.I114I; 21:34886852-34886852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.228C>T; p.R76R; 21:34886966-34886966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.801G>A; p.M267I; 21:34834414-34834414	large_intestine; colon	carcinoma	Substitution - Missense
c.801G>A; p.M267I; 21:34834414-34834414	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.593A>G; p.D198G; 21:34859494-34859494	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.601C>G; p.R201G; 21:34859486-34859486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.842A>T; p.Y281F; 21:34799426-34799426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.694C>T; p.R232W; 21:34834521-34834521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497G>T; p.R166L; 21:34880568-34880568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1154A>G; p.Y385C; 21:34792424-34792424	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1415T>C; p.L472P; 21:34792163-34792163	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.341T>C; p.I114T; 21:34886853-34886853	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.611G>T; p.R204L; 21:34859476-34859476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>A; p.P184Q; 21:34859536-34859536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1029C>T; p.S343S; 21:34792549-34792549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.986C>T; p.A329V; 21:34792592-34792592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.431T>C; p.L144P; 21:34880634-34880634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.486G>A; p.R162R; 21:34880579-34880579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.495T>C; p.G165G; 21:34880570-34880570	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.486G>A; p.R162R; 21:34880579-34880579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.555A>G; p.Q185Q; 21:34859532-34859532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.555A>G; p.Q185Q; 21:34859532-34859532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.555A>G; p.Q185Q; 21:34859532-34859532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.530T>C; p.I177T; 21:34859557-34859557	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.530T>C; p.I177T; 21:34859557-34859557	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.530T>C; p.I177T; 21:34859557-34859557	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.530T>C; p.I177T; 21:34859557-34859557	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.384T>C; p.T128T; 21:34880681-34880681	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.146C>T; p.P49L; 21:34887048-34887048	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1011_1012insC; p.A338fs*145; 21:34792566-34792567	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.462G>A; p.Q154Q; 21:34880603-34880603	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.461A>G; p.Q154R; 21:34880604-34880604	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.603A>G; p.R201R; 21:34859484-34859484	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.529A>G; p.I177V; 21:34859558-34859558	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.523C>T; p.L175L; 21:34859564-34859564	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.353T>C; p.V118A; 21:34880712-34880712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1086G>C; p.S362S; 21:34792492-34792492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.841T>C; p.Y281H; 21:34799427-34799427	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.841T>C; p.Y281H; 21:34799427-34799427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.748C>T; p.R250C; 21:34834467-34834467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.748C>T; p.R250C; 21:34834467-34834467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.958C>A; p.R320R; 21:34799310-34799310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>T; p.Q154*; 21:34880605-34880605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.484A>G; p.R162G; 21:34880581-34880581	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1263C>T; p.G421G; 21:34792315-34792315	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.554A>G; p.Q185R; 21:34859533-34859533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.485G>A; p.R162K; 21:34880580-34880580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.524T>C; p.L175P; 21:34859563-34859563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>T; p.G165C; 21:34880572-34880572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.993C>T; p.S331S; 21:34792585-34792585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.611G>A; p.R204Q; 21:34859476-34859476	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1220A>G; p.Y407C; 21:34792358-34792358	liver	carcinoma	Substitution - Missense
c.1220A>G; p.Y407C; 21:34792358-34792358	liver	carcinoma	Substitution - Missense
c.444C>T; p.T148T; 21:34880621-34880621	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1098C>T; p.I366I; 21:34792480-34792480	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.602G>A; p.R201Q; 21:34859485-34859485	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.188C>T; p.A63V; 21:34887006-34887006	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.160G>C; p.E54Q; 21:34887034-34887034	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>A; p.D198N; 21:34859495-34859495	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.22G>C; p.E8Q; 21:35048878-35048878	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.703G>A; p.A235T; 21:34834512-34834512	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.784C>T; p.Q262*; 21:34834431-34834431	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.602G>A; p.R201Q; 21:34859485-34859485	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.43C>T; p.Q15*; 21:35048857-35048857	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.508_508+1insAG; p.G170fs*7; 21:34880556-34880557	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.694C>T; p.R232W; 21:34834521-34834521	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.728C>T; p.P243L; 21:34834487-34834487	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.936C>A; p.T312T; 21:34799332-34799332	ovary	other; neoplasm	Substitution - coding silent
c.1302C>T; p.N434N; 21:34792276-34792276	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1077G>A; p.P359P; 21:34792501-34792501	pancreas	carcinoma	Substitution - coding silent
c.490G>T; p.V164F; 21:34880575-34880575	pancreas	carcinoma	Substitution - Missense
c.490G>T; p.V164F; 21:34880575-34880575	pancreas	carcinoma	Substitution - Missense
c.1232C>T; p.A411V; 21:34792346-34792346	prostate	carcinoma	Substitution - Missense
c.312delG; p.H105fs*17; 21:34886882-34886882	salivary_gland; tongue	carcinoma; adenoid_cystic_carcinoma	Deletion - Frameshift
c.965C>G; p.S322*; 21:34799303-34799303	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Nonsense
c.755C>T; p.S252F; 21:34834460-34834460	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.682C>T; p.L228L; 21:34834533-34834533	skin	malignant_melanoma	Substitution - coding silent
c.816G>A; p.Q272Q; 21:34799452-34799452	skin	malignant_melanoma	Substitution - coding silent
c.31C>T; p.P11S; 21:35048869-35048869	skin	malignant_melanoma	Substitution - Missense
c.880C>T; p.P294S; 21:34799388-34799388	skin	malignant_melanoma	Substitution - Missense
c.651G>T; p.G217G; 21:34834564-34834564	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.444C>T; p.T148T; 21:34880621-34880621	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.924C>T; p.S308S; 21:34799344-34799344	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.713T>C; p.V238A; 21:34834502-34834502	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.900G>A; p.T300T; 21:34799368-34799368	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1037G>A; p.R346H; 21:34792541-34792541	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.837G>A; p.W279*; 21:34799431-34799431	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.960A>G; p.R320R; 21:34799308-34799308	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.925G>A; p.G309S; 21:34799343-34799343	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.944C>T; p.A315V; 21:34799324-34799324	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.54G>C; p.M18I; 21:35048846-35048846	urinary_tract; bladder	carcinoma	Substitution - Missense
c.400G>C; p.A134P; 21:34880665-34880665	urinary_tract; bladder	carcinoma	Substitution - Missense
c.695G>T; p.R232L; 21:34834520-34834520	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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