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 summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.43.

The copy number variations for various cancers

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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.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.367_368insG; p.D123fs*15; 21:34880697-34880698	breast	carcinoma	Insertion - Frameshift
c.352-10T>A; p.?; 21:34880723-34880723	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Unknown
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.352-10T>A; p.?; 21:34880723-34880723	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage_associated_with_MDS	Unknown
c.445G>A; p.A149T; 21:34880620-34880620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
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.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	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.595G>A; p.G199R; 21:34859492-34859492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
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.755C>T; p.S252F; 21:34834460-34834460	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
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.380G>A; p.G127D; 21:34880685-34880685	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.416A>G; p.N139S; 21:34880649-34880649	breast	carcinoma	Substitution - Missense
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	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.444C>T; p.T148T; 21:34880621-34880621	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.784C>T; p.Q262*; 21:34834431-34834431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
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.444C>T; p.T148T; 21:34880621-34880621	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.784C>T; p.Q262*; 21:34834431-34834431	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.342C>A; p.I114I; 21:34886852-34886852	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - coding silent
c.514delA; p.S172fs*4; 21:34859573-34859573	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
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.441T>A; p.A147A; 21:34880624-34880624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1258_1280del23; p.G420fs*>54; 21:34792298-34792320	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1184C>T; p.P395L; 21:34792394-34792394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.737C>T; p.T246M; 21:34834478-34834478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
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.960A>G; p.R320R; 21:34799308-34799308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.494G>T; p.G165V; 21:34880571-34880571	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.960A>G; p.R320R; 21:34799308-34799308	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
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.274A>G; p.T92A; 21:34886920-34886920	large_intestine; colon	carcinoma; adenocarcinoma	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.351+1_351+2insG; p.?; 21:34886841-34886842	breast	carcinoma	Unknown
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.1098C>T; p.I366I; 21:34792480-34792480	lung	carcinoma; adenocarcinoma	Substitution - coding silent
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.493G>A; p.G165S; 21:34880572-34880572	large_intestine; colon	carcinoma; adenocarcinoma	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.602G>A; p.R201Q; 21:34859485-34859485	oesophagus	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	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.1011C>T; p.P337P; 21:34792567-34792567	breast	carcinoma	Substitution - coding silent
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	lung; right_upper_lobe	carcinoma; adenocarcinoma	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.493G>A; p.G165S; 21:34880572-34880572	large_intestine; colon	carcinoma; adenocarcinoma	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.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.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.43C>T; p.Q15*; 21:35048857-35048857	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
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.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.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.312delG; p.H105fs*17; 21:34886882-34886882	salivary_gland; tongue	carcinoma; adenoid_cystic_carcinoma	Deletion - Frameshift
c.682C>T; p.L228L; 21:34834533-34834533	skin	malignant_melanoma	Substitution - coding silent
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.345T>G; p.A115A; 21:34886849-34886849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.850_865del16; p.S284fs*22; 21:34799403-34799418	breast	carcinoma	Deletion - Frameshift
c.551C>T; p.P184L; 21:34859536-34859536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.251_252insC; p.H85fs*53; 21:34886942-34886943	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.551C>T; p.P184L; 21:34859536-34859536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
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.522T>C; p.T174T; 21:34859565-34859565	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
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.188C>T; p.A63V; 21:34887006-34887006	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.481_482insC; p.L161fs*52; 21:34880583-34880584	breast	carcinoma	Insertion - Frameshift
c.178_179insGG; p.A60fs*13; 21:34887015-34887016	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.520A>T; p.T174S; 21:34859567-34859567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.364G>C; p.G122R; 21:34880701-34880701	breast	carcinoma	Substitution - Missense
c.1212C>T; p.H404H; 21:34792366-34792366	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1048C>T; p.P350S; 21:34792530-34792530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
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.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.508_508+1insAG; p.G170fs*7; 21:34880556-34880557	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
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.965C>G; p.S322*; 21:34799303-34799303	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Nonsense
c.801G>A; p.M267I; 21:34834414-34834414	large_intestine; colon	carcinoma	Substitution - Missense
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.801G>A; p.M267I; 21:34834414-34834414	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
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	breast	carcinoma	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.593A>G; p.D198G; 21:34859494-34859494	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
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.651_667del17; p.S218fs*4; 21:34834548-34834564	breast	carcinoma	Deletion - Frameshift
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.482T>C; p.L161P; 21:34880583-34880583	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.482T>C; p.L161P; 21:34880583-34880583	breast	carcinoma	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.694C>T; p.R232W; 21:34834521-34834521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.496C>G; p.R166G; 21:34880569-34880569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.694C>T; p.R232W; 21:34834521-34834521	large_intestine; colon	carcinoma; adenocarcinoma	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.694C>T; p.R232W; 21:34834521-34834521	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.925G>A; p.G309S; 21:34799343-34799343	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	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.1232C>T; p.A411V; 21:34792346-34792346	prostate	carcinoma	Substitution - Missense
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.807_808insA; p.T270fs*>212; 21:34799460-34799461	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.497G>T; p.R166L; 21:34880568-34880568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497G>T; p.R166L; 21:34880568-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.816G>A; p.Q272Q; 21:34799452-34799452	skin	malignant_melanoma	Substitution - coding silent
c.393T>A; p.T131T; 21:34880672-34880672	breast	carcinoma	Substitution - coding silent
c.1344_1345insGAGC; p.Q449fs*35; 21:34792233-34792234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.776_783delTTAACCCT; p.F259fs*>220; 21:34834432-34834439	breast	carcinoma	Deletion - Frameshift
c.31C>T; p.P11S; 21:35048869-35048869	skin	malignant_melanoma	Substitution - Missense
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.796C>T; p.Q266*; 21:34834419-34834419	breast	carcinoma	Substitution - Nonsense
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.1154A>G; p.Y385C; 21:34792424-34792424	large_intestine	carcinoma; adenocarcinoma	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.1220A>G; p.Y407C; 21:34792358-34792358	liver	carcinoma	Substitution - Missense
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.1220A>G; p.Y407C; 21:34792358-34792358	liver	carcinoma	Substitution - Missense
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.1415T>C; p.L472P; 21:34792163-34792163	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
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.341T>C; p.I114T; 21:34886853-34886853	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
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.160G>C; p.E54Q; 21:34887034-34887034	lung	carcinoma; adenocarcinoma	Substitution - Missense
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.611G>T; p.R204L; 21:34859476-34859476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
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.880C>T; p.P294S; 21:34799388-34799388	skin	malignant_melanoma	Substitution - Missense
c.257_258insGT; p.G87fs*36; 21:34886936-34886937	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1077G>A; p.P359P; 21:34792501-34792501	pancreas	carcinoma	Substitution - coding silent
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.54G>C; p.M18I; 21:35048846-35048846	urinary_tract; bladder	carcinoma	Substitution - Missense
c.321C>A; p.R107R; 21:34886873-34886873	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.508+1G>C; p.?; 21:34880556-34880556	breast	carcinoma	Unknown
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.885_891delTGTGCAC; p.V296fs*13; 21:34799377-34799383	breast	carcinoma	Deletion - 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.551C>A; p.P184Q; 21:34859536-34859536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
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.1029C>T; p.S343S; 21:34792549-34792549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
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.986C>T; p.A329V; 21:34792592-34792592	large_intestine; colon	carcinoma; adenocarcinoma	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.731C>T; p.A244V; 21:34834484-34834484	breast	carcinoma	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.431T>C; p.L144P; 21:34880634-34880634	large_intestine; caecum	carcinoma; adenocarcinoma	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.924C>T; p.S308S; 21:34799344-34799344	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
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.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.334_335insCCC; p.T111_L112insP; 21:34886859-34886860	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Insertion - In frame
c.486G>A; p.R162R; 21:34880579-34880579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
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.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.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>G; p.Q185Q; 21:34859532-34859532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.505_506insA; p.R169fs*44; 21:34880559-34880560	breast	carcinoma	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	large_intestine; colon	carcinoma; adenocarcinoma	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.530T>C; p.I177T; 21:34859557-34859557	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
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.530T>C; p.I177T; 21:34859557-34859557	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.728C>T; p.P243L; 21:34834487-34834487	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.501T>A; p.S167R; 21:34880564-34880564	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.530T>C; p.I177T; 21:34859557-34859557	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427_428ins25; p.E143fs*3; 21:34880637-34880638	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Insertion - Frameshift
c.349A>T; p.K117*; 21:34886845-34886845	breast	carcinoma	Substitution - Nonsense
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.967+2_967+3insT; p.?; 21:34799298-34799299	breast	carcinoma	Unknown
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.565T>C; p.Y189H; 21:34859522-34859522	breast	carcinoma	Substitution - Missense
c.713T>C; p.V238A; 21:34834502-34834502	stomach	carcinoma; adenocarcinoma	Substitution - Missense
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.592G>A; p.D198N; 21:34859495-34859495	lung	carcinoma; adenocarcinoma	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.337C>T; p.P113S; 21:34886857-34886857	endometrium	carcinoma; endometrioid_carcinoma	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.384T>C; p.T128T; 21:34880681-34880681	large_intestine; caecum	carcinoma; adenocarcinoma	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.479A>G; p.D160G; 21:34880586-34880586	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1015_1016ins12; p.A338_L339insQFPA; 21:34792562-34792563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
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.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.651G>T; p.G217G; 21:34834564-34834564	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
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.462G>A; p.Q154Q; 21:34880603-34880603	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
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	breast	carcinoma	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.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.443_444ins71; p.A149fs*8; 21:34880621-34880622	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.529A>G; p.I177V; 21:34859558-34859558	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1274C>T; p.P425L; 21:34792304-34792304	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.523C>T; p.L175L; 21:34859564-34859564	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.949C>T; p.L317F; 21:34799319-34799319	breast	carcinoma	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.427_441del15; p.E143_A147delELRNA; 21:34880624-34880638	breast	carcinoma	Deletion - In frame
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.353T>C; p.V118A; 21:34880712-34880712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.952T>G; p.S318A; 21:34799316-34799316	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1086G>C; p.S362S; 21:34792492-34792492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.493_494insTTTTG; p.G165fs*13; 21:34880571-34880572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
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.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.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.474_487del14; p.N159fs*49; 21:34880578-34880591	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.22G>C; p.E8Q; 21:35048878-35048878	breast	carcinoma	Substitution - Missense
c.22G>C; p.E8Q; 21:35048878-35048878	lung	carcinoma; adenocarcinoma	Substitution - Missense
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.900G>A; p.T300T; 21:34799368-34799368	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
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.490G>T; p.V164F; 21:34880575-34880575	pancreas	carcinoma	Substitution - Missense
c.613+41delGTACACCCTCCAGGCTG; p.?; 21:34859417-34859433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.958C>A; p.R320R; 21:34799310-34799310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.613+41delGTACACCCTCCAGGCTG; p.?; 21:34859417-34859433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.490G>T; p.V164F; 21:34880575-34880575	pancreas	carcinoma	Substitution - Missense
c.334delC; p.L112fs*10; 21:34886860-34886860	breast	carcinoma	Deletion - Frameshift
c.735_736insC; p.T246fs*15; 21:34834479-34834480	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.1037G>A; p.R346H; 21:34792541-34792541	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.735_736insC; p.T246fs*15; 21:34834479-34834480	breast	carcinoma	Insertion - Frameshift
c.724_737del14; p.H242fs*14; 21:34834478-34834491	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.759G>A; p.L253L; 21:34834456-34834456	breast	carcinoma	Substitution - coding silent
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.944C>T; p.A315V; 21:34799324-34799324	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	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.400G>C; p.A134P; 21:34880665-34880665	urinary_tract; bladder	carcinoma	Substitution - Missense
c.601C>T; p.R201*; 21:34859486-34859486	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; caecum	carcinoma; adenocarcinoma	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	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
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.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
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.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.315C>A; p.H105Q; 21:34886879-34886879	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Substitution - Missense
c.404G>A; p.G135D; 21:34880661-34880661	breast	carcinoma	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.959G>A; p.R320Q; 21:34799309-34799309	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
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.460C>T; p.Q154*; 21:34880605-34880605	large_intestine; colon	carcinoma; adenocarcinoma	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	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1263C>T; p.G421G; 21:34792315-34792315	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
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.936C>A; p.T312T; 21:34799332-34799332	ovary	other; neoplasm	Substitution - coding silent
c.291_292insGC; p.L98fs*25; 21:34886902-34886903	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.35C>T; p.S12L; 21:35048865-35048865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
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.859_860insTA; p.Y287fs*25; 21:34799408-34799409	breast	carcinoma	Insertion - Frameshift
c.1302C>T; p.N434N; 21:34792276-34792276	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
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.554A>G; p.Q185R; 21:34859533-34859533	large_intestine; colon	carcinoma; adenocarcinoma	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.485G>A; p.R162K; 21:34880580-34880580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
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.860_861insTA; p.L288fs*24; 21:34799407-34799408	breast	carcinoma	Insertion - Frameshift
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.695G>T; p.R232L; 21:34834520-34834520	urinary_tract; bladder	carcinoma	Substitution - Missense
c.695G>T; p.R232L; 21:34834520-34834520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.524T>C; p.L175P; 21:34859563-34859563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.524T>C; p.L175P; 21:34859563-34859563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.372delT; p.P125fs*8; 21:34880693-34880693	breast	carcinoma	Deletion - Frameshift
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.493G>T; p.G165C; 21:34880572-34880572	large_intestine; colon	carcinoma; adenocarcinoma	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	lung	carcinoma; squamous_cell_carcinoma	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.993C>T; p.S331S; 21:34792585-34792585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
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.611G>A; p.R204Q; 21:34859476-34859476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.611G>A; p.R204Q; 21:34859476-34859476	large_intestine; rectum	carcinoma; adenocarcinoma	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	endometrium	carcinoma; endometrioid_carcinoma	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.946G>A; p.E316K; 21:34799322-34799322	breast	carcinoma	Substitution - Missense
c.571_572insA; p.R191fs*22; 21:34859515-34859516	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.26C>A; p.S9*; 21:35048874-35048874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.497_498ins9; p.R166_S167insSNR; 21:34880567-34880568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.703G>A; p.A235T; 21:34834512-34834512	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.837G>A; p.W279*; 21:34799431-34799431	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.837G>A; p.W279*; 21:34799431-34799431	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]