Entrez Gene

Basic Information
Gene ID	2623
Name	GATA1
Synonymous	ERYF1\|GATA-1\|GF-1\|GF1\|NFE1\|XLTT;GATA binding protein 1 (globin transcription factor 1);GATA1;GATA binding protein 1 (globin transcription factor 1)
Definition	GATA-binding factor 1\|NF-E1 DNA-binding protein\|erythroid transcription factor\|erythroid transcription factor 1\|globin transcription factor 1\|transcription factor GATA1
Position	Xp11.23
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

PCGP germline mutation [Top]
	There is no record for GATA1

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
GATA1_D65fs; chrX; 48649710	IFRAMESHIFT; -; -/CGCCTACTACAGGG; SOMATIC	AMLM7; VALID; EXOME
GATA1_Y69_P73fs; chrX; 48649721	DEL; FRAMESHIFT; TACAGACACTCCC; TACAGACACTCCC/-; SOMATIC	AMLM7; VALID; EXOME
GATA1_T101fs; chrX; 48650330	DEL; FRAMESHIFT; ACGGGGCTCTACCCTGCCTCAACTGTGTGTCCCACCCGCGAGGACTCTCCTCCCCAGGCCGTGGAAGATCTGGATGGAAAAGGCAGCACCAGCT; ACGGGGCTCTACCCTGCCTCAACTGTGTGTCCCACCCGCGAGGACTCTCCTCCCCAGGCCGTGGAAGATCTGGATGGAAAAGGCAGCACCAGCT/-CCGTAGACTGGAGACTTCAAAG; SOMATIC	AMLM7; VALID; EXOME

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.149C>A; p.P50Q;	large_intestine	carcinoma; adenocarcinoma
c.1153C>A; p.P385T;	large_intestine	carcinoma; adenocarcinoma
c.220G>A; p.V74I; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.101_108delTCCCCTCT; p.F34fs*3; 23:48534561-48534568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.220G>A; p.V74I; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.220G>A; p.V74I; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.85G>T; p.E29*; 23:48534545-48534545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.164_178>22; p.A55fs*15; 23:48534624-48534638	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.189_190ins13; p.R64fs*8; 23:48534649-48534650	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.114_115insT; p.E39fs*1; 23:48534574-48534575	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.43_44delCT; p.L15fs*24; 23:48534503-48534504	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.124_125insTTGG; p.D42fs*27; 23:48534584-48534585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.192_193ins11; p.D65fs*76; 23:48534652-48534653	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.138_139insC; p.S47fs*21; 23:48534598-48534599	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.21_22insG; p.S8fs*32; 23:48534481-48534482	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.2_3TG>AT; p.M1N; 23:48534462-48534463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.54_55ins13; p.V19fs*25; 23:48534514-48534515	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?_?ins12; p.?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.207C>G; p.Y69*; 23:48534667-48534667	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.1A>G; p.M1V; 23:48534461-48534461	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.183_193del11; p.Y62fs*2; 23:48534643-48534653	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.101_108delTCCCCTCT; p.F34fs*3; 23:48534561-48534568	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.153_175del23; p.A53fs*7; 23:48534613-48534635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.193_199GACGCTG>TAGTAGT; p.D65_E67>***; 23:48534653-48534659	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.230_358del129; p.V77_A120>A; 23:48535204-48535332	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.185_186ins12; p.Y62>*; 23:48534645-48534646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.?; p.?; 23:48535574-48535574	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.172_173insNNNNN; p.A58fs*81; 23:48534632-48534633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.1A>G; p.M1V; 23:48534461-48534461	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.145_146insG; p.A49fs*19; 23:48534605-48534606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.145_146insG; p.A49fs*19; 23:48534605-48534606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.133_160>23; p.A45fs*21; 23:48534593-48534605	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.174_175insCAGCTGCG; p.A59fs*81; 23:48534634-48534635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.221_598del378; p.?; 23:48535195-48535572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.50_78del29; p.Q17fs*13; 23:48534510-48534538	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.50_78del29; p.Q17fs*13; 23:48534510-48534538	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.202_203insG; p.A68fs*94; 23:48534662-48534663	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.192_193ins29; p.D65fs*82; 23:48534652-48534653	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.192_193ins11; p.D65fs*76; 23:48534652-48534653	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.138_139insC; p.S47fs*21; 23:48534598-48534599	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.151_162>TG; p.S51fs*83; 23:48534611-48534622	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.21_22insG; p.S8fs*32; 23:48534481-48534482	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.29_30delGG; p.G10fs*29; 23:48534489-48534490	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.155_178>G; p.T52fs*8; 23:48534615-48534638	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.232_233insGT; p.Y78fs*60; 23:48535206-48535207	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.189_190ins13; p.R64fs*8; 23:48534649-48534650	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.114_115insT; p.E39fs*1; 23:48534574-48534575	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.43_44delCT; p.L15fs*24; 23:48534503-48534504	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.124_125insTTGG; p.D42fs*27; 23:48534584-48534585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.201G>A; p.E67E; 23:48534661-48534661	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.3G>A; p.M1I; 23:48534463-48534463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.182C>A; p.A61D; 23:48534642-48534642	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.56_57delTG; p.V19fs*20; 23:48534516-48534517	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.114_159del46; p.E39fs*83; 23:48534574-48534619	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.114_159del46; p.E39fs*83; 23:48534574-48534619	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.171_172insGCACT; p.A59fs*80; 23:48534631-48534632	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.221T>A; p.V74D; 23:48535195-48535195	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.173_174ins17; p.A59fs*84; 23:48534633-48534634	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.191_192insTACAG; p.R64fs*75; 23:48534651-48534652	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.181_182ins13; p.A61fs*11; 23:48534641-48534642	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.115G>T; p.E39*; 23:48534575-48534575	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.4_37>?; p.E2fs*444; 23:48534464-48534497	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.49C>T; p.Q17*; 23:48534509-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.160_163ACCG>GCAGTGGCT; p.T54fs*85; 23:48534620-48534623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.149_150insG; p.S51fs*17; 23:48534609-48534610	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.162_162C>TGT; p.A55fs*83; 23:48534622-48534622	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.99_100insNNAA; p.F34fs*7; 23:48534559-48534560	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.5A>G; p.E2G; 23:48534465-48534465	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.106_107insT; p.S36fs*4; 23:48534566-48534567	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.183_184ins100; p.Y62fs*11; 23:48534643-48534644	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.2_3insT; p.M1fs; 23:48534462-48534463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.143_168del26; p.T48fs*11; 23:48534603-48534628	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.31_32insA; p.T11fs*29; 23:48534491-48534492	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.44_45insCCCT; p.Q17fs*24; 23:48534504-48534505	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.85G>T; p.E29*; 23:48534545-48534545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.4G>T; p.E2*; 23:48534464-48534464	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.195_196insCCAGTGCC; p.A66fs*74; 23:48534655-48534656	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.193_194insAGGG; p.D65fs*4; 23:48534653-48534654	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.1_220del220; p.M1fs; 23:48534461-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.?; p.L23L;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related
c.77C>T; p.S26F; 23:48534537-48534537	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS
c.3G>T; p.M1I; 23:48534463-48534463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.221-1G>A; p.?; 23:48535194-48535194	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.193_194ins19; p.D65fs*9; 23:48534654-48534655	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.221_598del378; p.?; 23:48535195-48535572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.159_160insTC; p.T54fs*84; 23:48534620-48534621	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.186_187insCCTAC; p.Y63fs*76; 23:48534647-48534648	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.2T>G; p.M1R; 23:48534462-48534462	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.2T>C; p.M1T; 23:48534462-48534462	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.186_187insTGGCCTAC; p.Y63fs*77; 23:48534647-48534648	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.21_22insG; p.S8fs*32; 23:48534482-48534483	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.148_149ins20; p.P50fs*94; 23:48534609-48534610	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.1A>C; p.M1L; 23:48534461-48534461	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.189C>A; p.Y63*; 23:48534649-48534649	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.187_188ins22; p.Y63fs*12;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.3G>A; p.M1I; 23:48534463-48534463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.157_158insAGCACAG; p.A53fs*17; 23:48534618-48534619	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.154_161delACAGCCAC; p.T52fs*13; 23:48534614-48534621	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.4G>T; p.E2*; 23:48534464-48534464	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.4G>T; p.E2*; 23:48534464-48534464	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.219A>C; p.V74_C199del; 23:48534679-48534679	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.156_157insCA; p.A53fs*85; 23:48534617-48534618	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.185_188delACTA; p.Y62fs*74; 23:48534645-48534648	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.3G>A; p.M1I; 23:48534463-48534463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.3G>A; p.M1I; 23:48534463-48534463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.149_151insTGGCT; p.S51fs*2; 23:48534610-48534611	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.173_174ins19; p.A59fs*15; 23:48534634-48534635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.220G>T; p.V74F; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.220G>A; p.V74I; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.97_139del43; p.F33fs*90; 23:48534557-48534599	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.155_156insC; p.A53fs*15; 23:48534616-48534617	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.173_1754insCTGCAGC; p.A59fs*11; 23:48534634-48534635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.174_177GGCA>TGCGGTGG; p.L60fs*9; 23:48534634-48534637	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.220+1G>C; p.?; 23:48534681-48534681	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.150delG; p.P50fs*87; 23:48534610-48534610	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.49C>T; p.Q17*; 23:48534509-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.49C>T; p.Q17*; 23:48534509-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.195_196insTAGGGAC; p.A66fs*1; 23:48534655-48534656	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.187_215del29; p.Y63fs*89; 23:48534647-48534675	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.186C>A; p.Y62*; 23:48534646-48534646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.1A>G; p.M1V; 23:48534461-48534461	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226C>G; p.Q76E; 23:48535200-48535200	lung	carcinoma; adenocarcinoma
c.38_39delAG; p.E13fs*26; 23:48534498-48534499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.38_39delAG; p.E13fs*26; 23:48534498-48534499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.186C>G; p.Y62*; 23:48534646-48534646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.1-48_1-24del; p.?; 23:48534413-48534437	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.89C>A; p.S30*; 23:48534549-48534549	lung	carcinoma; adenocarcinoma
c.?; p.S12fs*?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.102_103insAGAA; p.P35fs*6; 23:48534562-48534563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.212_220del9+1_3delGTA; p.?; 23:48534672-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.212_220del9+1_3delGTA; p.?; 23:48534672-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.V77fs*?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.?; p.G31fs*?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.37G>T; p.E13*; 23:48534497-48534497	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.?; p.G7fs*?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.220G>A; p.V74I; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.?; p.P50fs*?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.F33fs*?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.P50fs*?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.T52fs*?;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.S373*;	ovary	carcinoma; serous_carcinoma
c.832G>A; p.V278M;	large_intestine; colon	carcinoma; adenocarcinoma
c.186_187ins10; p.Y62fs*8; 23:48534646-48534647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.186_187ins10; p.Y62fs*8; 23:48534646-48534647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.187_188insTACT; p.Y63fs*6;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.173_174ins15; p.A58_A59insXXXXX;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.187_188insTACT; p.Y63fs*6;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.152_210del59; p.S51fs*91;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.84_85insT; p.P28fs*1;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.166_167delGC; p.A56fs*11;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.176_177ins20; p.A59fs*85; 23:48534636-48534637	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.193_194ins20; p.D65fs*79; 23:48534653-48534654	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.193_194ins20; p.D65fs*79; 23:48534653-48534654	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.193_194ins20; p.D65fs*79; 23:48534653-48534654	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.199G>T; p.E67*; 23:48534659-48534659	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.147_148ins58; p.A49fs*37; 23:48534607-48534608	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.147_148ins58; p.A49fs*37; 23:48534607-48534608	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.98_132del35; p.F33fs*23; 23:48534558-48534592	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.114_160del47; p.P38fs*14; 23:48534574-48534620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.114_160del47; p.P38fs*14; 23:48534574-48534620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.121_131del11; p.L41fs*23; 23:48534581-48534591	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.154_155insCAGC; p.T52fs*17; 23:48534614-48534615	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.135_158>ACAG; p.A45fs*15; 23:48534595-48534618	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.49C>T; p.Q17*; 23:48534509-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.160_167ACCGCTGC>12; p.T54fs*15; 23:48534620-48534627	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.161_162ins11; p.T54fs*87; 23:48534621-48534622	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.186_187insT; p.Y62fs*5; 23:48534646-48534647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.38_39delAG; p.E13fs*26; 23:48534498-48534499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.89C>G; p.S30*; 23:48534549-48534549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.176C>T; p.A59V; 23:48534636-48534636	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.105_106insC; p.P35fs*4; 23:48534565-48534566	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.12_13insC; p.P4fs*35; 23:48534472-48534473	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.32C>A; p.T11N; 23:48534492-48534492	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.143_168del26; p.T48fs*11; 23:48534603-48534628	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.168_172AGCT>TA; p.A56fs*358; 23:48534628-48534632	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.174_175ins14; p.A58fs*83; 23:48534634-48534635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.174_175ins14; p.A58fs*83; 23:48534634-48534635	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.164_220del57; p.A55_V74del; 23:48534624-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.184_185ins19; p.Y62fs*12; 23:48534644-48534645	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.220+2T>C; p.?; 23:48534682-48534682	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.150delG; p.P50fs*87; 23:48534610-48534610	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.185_186insA; p.Y62fs*1; 23:48534645-48534646	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.160_161ins10; p.T54fs*17; 23:48534620-48534621	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.151_193del43; p.S51fs*72; 23:48534611-48534653	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1A>G; p.M1V; 23:48534461-48534461	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.220G>T; p.V74F; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.180_181ins11; p.L60fs*80; 23:48534640-48534641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.3G>A; p.M1I; 23:48534463-48534463	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.49C>T; p.Q17*; 23:48534509-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.189_199>33; p.Y63fs*78; 23:48534649-48534659	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.4G>T; p.E2*; 23:48534464-48534464	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.219A>G; p.P73P; 23:48534679-48534679	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.140_174del35; p.S47fs*9; 23:48534600-48534634	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.37G>T; p.E13*; 23:48534497-48534497	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.187_188ins22; p.Y63fs*12;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.209_210delGA; p.R70fs*91; 23:48534669-48534670	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.105_106insC; p.P35fs*4; 23:48534565-48534566	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.180_181insT; p.L60fs*7; 23:48534640-48534641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.193_194insNNNNN; p.D65fs*74; 23:48534653-48534654	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.220G>A; p.V74I; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.192_192G>NNN; p.R64fs*74; 23:48534652-48534652	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.220_229del10; p.V74fs*60; 23:48534680-48535203	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.33_34ins16; p.T11fs*33; 23:48534493-48534494	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.217_218delCC; p.P73fs*88; 23:48534677-48534678	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.217_218delCC; p.P73fs*88; 23:48534677-48534678	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.154_155ins10; p.T52fs*19; 23:48534614-48534615	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.205_217del13; p.Y69fs*64; 23:48534665-48534677	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.212_220del9; p.H71_V74>L; 23:48534672-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.158_180del23; p.A53fs*7; 23:48534618-48534640	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.186_187insT; p.Y62fs*5; 23:48534646-48534647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.205_217del13; p.Y69fs*64; 23:48534665-48534677	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.186_187insT; p.Y62fs*5; 23:48534646-48534647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.49C>T; p.Q17*; 23:48534509-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.158_180del23; p.A53fs*7; 23:48534618-48534640	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.162_178del17; p.T54fs*8; 23:48534622-48534638	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.90_91delAG; p.S30fs*9; 23:48534550-48534551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.220G>A; p.V74I; 23:48534680-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.49C>T; p.Q17*; 23:48534509-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.173_174ins16; p.A58fs*15; 23:48534633-48534634	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.124_220del97; p.D42_D74>; 23:48534584-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.124_220del97; p.D42_D74>; 23:48534584-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.124_220del97; p.D42_D74>; 23:48534584-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.158_159insCGCAGCT; p.A53fs*16; 23:48534618-48534619	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.150_151insNNNNNNN; p.S51fs*19; 23:48534610-48534611	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.232_233insGT; p.Y78fs*60; 23:48535206-48535207	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1_220del220; p.M1fs; 23:48534461-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1_220del220; p.M1fs; 23:48534461-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.139delT; p.S47fs*90; 23:48534599-48534599	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.48_49delCC; p.P16fs*23; 23:48534508-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1_220del220; p.M1fs; 23:48534461-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.85G>T; p.E29*; 23:48534545-48534545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.189C>G; p.Y63*; 23:48534649-48534649	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.378A>G; p.G126G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.418C>T; p.R140W;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.5_7AGT>C; p.E2fs*37;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.338G>A; p.R113H;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.297C>T; p.G99G;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.150_184del35; p.P50fs*6; 23:48534610-48534644	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.36_37delAG; p.E13fs*26; 23:48534496-48534497	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.588G>T; p.L196L;	lung	carcinoma; adenocarcinoma
c.336C>A; p.T112T;	lung	carcinoma; adenocarcinoma
c.745-51C>T; p.?; 23:48536472-48536472	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia
c.745-48C>T; p.?; 23:48536475-48536475	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia
c.174G>A; p.A58A;	breast	carcinoma
c.849_850CC>AA; p.G283>?;	lung	carcinoma; small_cell_carcinoma
c.161_162CC>AT; p.T54N;	lung	carcinoma; adenocarcinoma
c.387C>A; p.S129R;	lung	carcinoma; squamous_cell_carcinoma
c.1018G>A; p.G340S;	lung	carcinoma; squamous_cell_carcinoma
c.907C>T; p.Q303*;	lung	carcinoma; squamous_cell_carcinoma
c.699G>A; p.K233K;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.920G>T; p.R307L;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1131C>T; p.S377S;	lung	carcinoma; squamous_cell_carcinoma
c.261C>A; p.I87I;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.582C>A; p.L194L;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.496C>A; p.P166T;	endometrium	carcinoma; endometrioid_carcinoma
c.90A>G; p.S30S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1068delC; p.P358fs*>56;	large_intestine; colon	carcinoma; adenocarcinoma
c.282C>T; p.A94A;	large_intestine; caecum	carcinoma; adenocarcinoma
c.220+2T>C; p.?; 23:48534682-48534682	large_intestine; colon	carcinoma; adenocarcinoma
c.2T>C; p.M1T; 23:48534462-48534462	large_intestine; colon	carcinoma; adenocarcinoma
c.87A>T; p.E29D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1030G>A; p.G344R;	large_intestine; colon	carcinoma; adenocarcinoma
c.357G>T; p.Q119H;	large_intestine; colon	carcinoma; adenocarcinoma
c.679G>A; p.A227T;	large_intestine; colon	carcinoma; adenocarcinoma
c.982G>A; p.E328K;	large_intestine; colon	carcinoma; adenocarcinoma
c.360C>T; p.A120A;	large_intestine; colon	carcinoma; adenocarcinoma
c.723C>A; p.L241L;	large_intestine; colon	carcinoma; adenocarcinoma
c.449C>A; p.P150H;	large_intestine; colon	carcinoma; adenocarcinoma
c.173C>T; p.A58V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1096G>T; p.G366C;	large_intestine; rectum	carcinoma; adenocarcinoma
c.228G>T; p.Q76H;	endometrium	carcinoma; endometrioid_carcinoma
c.143C>A; p.T48N;	endometrium	carcinoma; endometrioid_carcinoma
c.836G>T; p.C279F;	endometrium	carcinoma; endometrioid_carcinoma
c.913C>T; p.R305*;	endometrium	carcinoma; endometrioid_carcinoma
c.49C>T; p.Q17*; 23:48534509-48534509	large_intestine; colon	carcinoma; adenocarcinoma
c.88T>C; p.S30P;	large_intestine; colon	carcinoma; adenocarcinoma
c.187T>C; p.Y63H;	large_intestine; colon	carcinoma; adenocarcinoma
c.359C>T; p.A120V;	endometrium	carcinoma; endometrioid_carcinoma
c.195C>T; p.D65D;	endometrium	carcinoma; endometrioid_carcinoma
c.739C>T; p.R247C;	endometrium	carcinoma; endometrioid_carcinoma
c.798G>A; p.T266T;	endometrium	carcinoma; endometrioid_carcinoma
c.154A>G; p.T52A;	large_intestine; colon	carcinoma; adenocarcinoma
c.38A>G; p.E13G;	large_intestine; colon	carcinoma; adenocarcinoma
c.155C>T; p.T52I;	large_intestine; colon	carcinoma; adenocarcinoma
c.99C>A; p.F33L;	endometrium	carcinoma; endometrioid_carcinoma
c.679G>A; p.A227T;	endometrium	carcinoma; endometrioid_carcinoma
c.150G>A; p.P50P;	endometrium	carcinoma; endometrioid_carcinoma
c.218C>A; p.P73Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.294C>T; p.Y98Y;	breast	carcinoma
c.340G>A; p.E114K;	cervix	carcinoma; squamous_cell_carcinoma
c.920G>A; p.R307H;	breast	carcinoma
c.50A>G; p.Q17R;	large_intestine; colon	carcinoma; adenocarcinoma
c.78C>A; p.S26S;	large_intestine; colon	carcinoma; adenocarcinoma
c.303G>A; p.T101T;	urinary_tract; bladder	carcinoma
c.158_159insCGCAGCT; p.A53fs*16; 23:48534618-48534619	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.133_154del22; p.A45fs*85; 23:48534593-48534614	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.150delG; p.P50fs*87; 23:48534610-48534610	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.191_192ins10; p.R64fs*7; 23:48534651-48534652	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.147_148ins34; p.A49fs*1; 23:48534607-48534608	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.147_148ins34; p.A49fs*1; 23:48534607-48534608	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.49C>T; p.Q17*; 23:48534509-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.48_49delCC; p.P16fs*23; 23:48534508-48534509	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1_220del220; p.M1fs; 23:48534461-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1_220del220; p.M1fs; 23:48534461-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1_220del220; p.M1fs; 23:48534461-48534680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.232_233insGT; p.Y78fs*60; 23:48535206-48535207	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm
c.150delG; p.P50fs*87; 23:48534610-48534610	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1172C>T; p.T391M;	prostate	carcinoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]