Entrez Gene

Basic Information
Gene ID	5781
Name	PTPN11
Synonymous	protein tyrosine phosphatase, non-receptor type 11;PTPN11;protein tyrosine phosphatase, non-receptor type 11
Definition	PTP-2C\|protein-tyrosine phosphatase 1D\|protein-tyrosine phosphatase 2C\|tyrosine-protein phosphatase non-receptor type 11
Position	12q24
Gene Type	protein-coding

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

c.616T>C; p.L206L; 12:112454654-112454654	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - coding silent
c.181G>T; p.D61Y; 12:112450361-112450361	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1381G>A; p.A461T; 12:112488444-112488444	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1520C>A; p.T507K; 12:112489096-112489096	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.565T>G; p.S189A; 12:112454603-112454603	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.888T>C; p.D296D; 12:112477685-112477685	breast	carcinoma	Substitution - coding silent
c.38G>A; p.G13D; 12:112446299-112446299	breast	carcinoma	Substitution - Missense
c.772G>T; p.E258*; 12:112472959-112472959	breast	carcinoma	Substitution - Nonsense
c.1530G>T; p.Q510H; 12:112489106-112489106	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1520C>A; p.T507K; 12:112489096-112489096	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1530G>C; p.Q510H; 12:112489106-112489106	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	central_nervous_system; brain	glioma	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.232G>A; p.V78I; 12:112450412-112450412	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.155C>G; p.T52S; 12:112450335-112450335	central_nervous_system; brain	glioma	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1529A>T; p.Q510L; 12:112489105-112489105	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.922A>G; p.N308D; 12:112477719-112477719	central_nervous_system; brain	glioma	Substitution - Missense
c.846C>G; p.I282M; 12:112473033-112473033	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.846C>G; p.I282M; 12:112473033-112473033	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	central_nervous_system; brain	glioma	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	central_nervous_system; brain	glioma	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.541G>A; p.V181I; 12:112454579-112454579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1382C>G; p.A461G; 12:112488445-112488445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.436G>T; p.D146Y; 12:112453298-112453298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.879C>T; p.H293H; 12:112477676-112477676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.711T>C; p.A237A; 12:112456018-112456018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1150C>T; p.R384C; 12:112482131-112482131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1683G>A; p.P561P; 12:112502227-112502227	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1387A>C; p.I463L; 12:112488450-112488450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.165G>T; p.K55N; 12:112450345-112450345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.984T>C; p.I328I; 12:112477907-112477907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1579C>T; p.R527C; 12:112489155-112489155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1664G>A; p.G555E; 12:112502208-112502208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857A>T; p.D286V; 12:112477654-112477654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1330C>T; p.H444Y; 12:112486580-112486580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1507_1508GG>CT; p.G503L; 12:112489083-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.966G>A; p.K322K; 12:112477889-112477889	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.1507G>A; p.G503R; 12:112489083-112489083	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.229T>G; p.L77V; 12:112450409-112450409	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1510A>G; p.M504V; 12:112489086-112489086	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.245T>C; p.M82T; 12:112450425-112450425	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1507G>C; p.G503R; 12:112489083-112489083	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1424T>C; p.L475P; 12:112488487-112488487	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1504T>A; p.S502T; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1471C>T; p.P491S; 12:112489047-112489047	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1520C>A; p.T507K; 12:112489096-112489096	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>C; p.D61H; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera	Substitution - Missense
c.181G>C; p.D61H; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>C; p.D61H; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.455G>A; p.R152H; 12:112453317-112453317	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226_227GA>AT; p.E76M; 12:112450406-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.48A>G; p.A16A; 12:112446309-112446309	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1530G>C; p.Q510H; 12:112489106-112489106	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1530G>C; p.Q510H; 12:112489106-112489106	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1633A>C; p.I545L; 12:112502177-112502177	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.188A>G; p.Y63C; 12:112450368-112450368	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1528C>A; p.Q510K; 12:112489104-112489104	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1528C>A; p.Q510K; 12:112489104-112489104	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.923A>G; p.N308S; 12:112477720-112477720	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1425T>A; p.L475L; 12:112488488-112488488	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.1403C>T; p.T468M; 12:112488466-112488466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.214G>T; p.A72S; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>A; p.D61N; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>A; p.D61N; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>A; p.D61N; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.181G>A; p.D61N; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1472C>T; p.P491L; 12:112489048-112489048	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1472C>T; p.P491L; 12:112489048-112489048	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1472C>T; p.P491L; 12:112489048-112489048	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1658C>T; p.T553M; 12:112502202-112502202	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>G; p.D61G; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.182A>G; p.D61G; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.155C>G; p.T52S; 12:112450335-112450335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.155C>G; p.T52S; 12:112450335-112450335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.206A>T; p.E69V; 12:112450386-112450386	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1528C>G; p.Q510E; 12:112489104-112489104	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1529A>T; p.Q510L; 12:112489105-112489105	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.417G>C; p.E139D; 12:112453279-112453279	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.922A>G; p.N308D; 12:112477719-112477719	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1504T>G; p.S502A; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.417G>C; p.E139D; 12:112453279-112453279	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.922A>G; p.N308D; 12:112477719-112477719	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.417G>C; p.E139D; 12:112453279-112453279	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.213T>G; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.179G>C; p.G60A; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1517A>C; p.Q506P; 12:112489093-112489093	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.220T>A; p.L74M; 12:112450400-112450400	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1508G>A; p.G503E; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1508G>A; p.G503E; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.211_213TTT>AAA; p.F71K; 12:112450391-112450393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.172A>T; p.N58Y; 12:112450352-112450352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.172A>T; p.N58Y; 12:112450352-112450352	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.172A>T; p.N58Y; 12:112450352-112450352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.172A>T; p.N58Y; 12:112450352-112450352	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.211T>C; p.F71L; 12:112450391-112450391	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.211T>C; p.F71L; 12:112450391-112450391	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.211T>C; p.F71L; 12:112450391-112450391	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.567T>C; p.S189S; 12:112454605-112454605	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.316G>T; p.D106Y; 12:112450496-112450496	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1281C>G; p.G427G; 12:112486531-112486531	kidney	carcinoma	Substitution - coding silent
c.1281C>G; p.G427G; 12:112486531-112486531	kidney	carcinoma	Substitution - coding silent
c.349C>T; p.L117F; 12:112453211-112453211	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.687A>G; p.R229R; 12:112455994-112455994	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.640C>A; p.Q214K; 12:112454678-112454678	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	large_intestine; rectum	NS	Substitution - Missense
c.463G>T; p.D155Y; 12:112453325-112453325	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1535G>A; p.R512Q; 12:112489111-112489111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1764G>T; p.Q588H; 12:112504746-112504746	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1530G>T; p.Q510H; 12:112489106-112489106	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1233G>A; p.T411T; 12:112486483-112486483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1508G>T; p.G503V; 12:112489084-112489084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1519A>G; p.T507A; 12:112489095-112489095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1519A>G; p.T507A; 12:112489095-112489095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1519A>G; p.T507A; 12:112489095-112489095	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>A; p.V181I; 12:112454579-112454579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1621G>A; p.E541K; 12:112502165-112502165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.342T>C; p.H114H; 12:112453204-112453204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.161T>C; p.I54T; 12:112450341-112450341	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.161T>C; p.I54T; 12:112450341-112450341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.463G>A; p.D155N; 12:112453325-112453325	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.133G>A; p.V45I; 12:112446394-112446394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219T>C; p.T73T; 12:112450399-112450399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.219T>C; p.T73T; 12:112450399-112450399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.189T>C; p.Y63Y; 12:112450369-112450369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.369G>T; p.E123D; 12:112453231-112453231	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.369G>T; p.E123D; 12:112453231-112453231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.658C>T; p.R220C; 12:112455965-112455965	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.188A>T; p.Y63F; 12:112450368-112450368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1015A>G; p.N339D; 12:112477938-112477938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1017T>C; p.N339N; 12:112477940-112477940	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1017T>C; p.N339N; 12:112477940-112477940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.220T>C; p.L74L; 12:112450400-112450400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.188A>G; p.Y63C; 12:112450368-112450368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.206A>G; p.E69G; 12:112450386-112450386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.206A>G; p.E69G; 12:112450386-112450386	large_intestine; rectum	NS	Substitution - Missense
c.180T>C; p.G60G; 12:112450360-112450360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.591T>G; p.Y197*; 12:112454629-112454629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1302C>T; p.G434G; 12:112486552-112486552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.207G>T; p.E69D; 12:112450387-112450387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.416A>G; p.E139G; 12:112453278-112453278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.416A>G; p.E139G; 12:112453278-112453278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.213T>C; p.F71F; 12:112450393-112450393	large_intestine; rectum	NS	Substitution - coding silent
c.675A>C; p.E225D; 12:112455982-112455982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1473C>A; p.P491P; 12:112489049-112489049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473C>A; p.P491P; 12:112489049-112489049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1645C>T; p.L549L; 12:112502189-112502189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.227A>G; p.E76G; 12:112450407-112450407	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.182A>G; p.D61G; 12:112450362-112450362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.174C>A; p.N58K; 12:112450354-112450354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1506A>G; p.S502S; 12:112489082-112489082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506A>G; p.S502S; 12:112489082-112489082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506A>G; p.S502S; 12:112489082-112489082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.156C>T; p.T52T; 12:112450336-112450336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1509G>A; p.G503G; 12:112489085-112489085	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473C>T; p.P491P; 12:112489049-112489049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.922A>G; p.N308D; 12:112477719-112477719	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.249A>G; p.E83E; 12:112450429-112450429	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.249A>G; p.E83E; 12:112450429-112450429	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1521A>G; p.T507T; 12:112489097-112489097	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1016A>G; p.N339S; 12:112477939-112477939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.N339S; 12:112477939-112477939	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.N339S; 12:112477939-112477939	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.N339S; 12:112477939-112477939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.172A>G; p.N58D; 12:112450352-112450352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.172A>G; p.N58D; 12:112450352-112450352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.172A>G; p.N58D; 12:112450352-112450352	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.172A>G; p.N58D; 12:112450352-112450352	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.974A>C; p.K325T; 12:112477897-112477897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>A; p.G503E; 12:112489084-112489084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>A; p.G503E; 12:112489084-112489084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>A; p.D180N; 12:112454576-112454576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.211T>C; p.F71L; 12:112450391-112450391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.923A>C; p.N308T; 12:112477720-112477720	liver	carcinoma	Substitution - Missense
c.836A>G; p.Y279C; 12:112473023-112473023	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1666G>A; p.D556N; 12:112502210-112502210	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1273G>T; p.D425Y; 12:112486523-112486523	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1651G>A; p.D551N; 12:112502195-112502195	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.244A>G; p.M82V; 12:112450424-112450424	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1448G>A; p.G483D; 12:112489024-112489024	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1562A>T; p.Y521F; 12:112489138-112489138	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.715A>T; p.T239S; 12:112456022-112456022	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.906A>G; p.S302S; 12:112477703-112477703	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.177T>C; p.T59T; 12:112450357-112450357	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1551G>T; p.A517A; 12:112489127-112489127	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.673G>T; p.E225*; 12:112455980-112455980	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1645C>T; p.L549L; 12:112502189-112502189	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1235A>G; p.E412G; 12:112486485-112486485	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1254C>A; p.Y418*; 12:112486504-112486504	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1277A>G; p.H426R; 12:112486527-112486527	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>T; p.E313*; 12:112477860-112477860	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.541G>C; p.V181L; 12:112454579-112454579	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.450T>C; p.S150S; 12:112453312-112453312	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1509G>T; p.G503G; 12:112489085-112489085	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.540C>T; p.D180D; 12:112454578-112454578	NS	malignant_melanoma	Substitution - coding silent
c.1361C>T; p.P454L; 12:112486611-112486611	oesophagus	carcinoma	Substitution - Missense
c.1064T>C; p.M355T; 12:112477987-112477987	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1420A>G; p.I474V; 12:112488483-112488483	oesophagus	carcinoma	Substitution - Missense
c.1459G>T; p.D487Y; 12:112489035-112489035	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1379+2T>C; p.?; 12:112486631-112486631	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1713-6C>G; p.?; 12:112504689-112504689	ovary	other; neoplasm	Unknown
c.1713-6C>G; p.?; 12:112504689-112504689	ovary	other; neoplasm	Unknown
c.1527A>T; p.A509A; 12:112489103-112489103	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1016A>G; p.N339S; 12:112477939-112477939	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1282G>A; p.V428M; 12:112486532-112486532	pancreas	carcinoma	Substitution - Missense
c.1625A>G; p.Y542C; 12:112502169-112502169	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.97C>T; p.P33S; 12:112446358-112446358	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1273G>A; p.D425N; 12:112486523-112486523	skin	malignant_melanoma	Substitution - Missense
c.1530G>T; p.Q510H; 12:112489106-112489106	skin	malignant_melanoma	Substitution - Missense
c.523C>T; p.Q175*; 12:112453385-112453385	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1381G>A; p.A461T; 12:112488444-112488444	skin	malignant_melanoma	Substitution - Missense
c.1296T>G; p.P432P; 12:112486546-112486546	skin; foot	malignant_melanoma; acral_lentiginous	Substitution - coding silent
c.691C>A; p.R231R; 12:112455998-112455998	skin	malignant_melanoma	Substitution - coding silent
c.340C>T; p.H114Y; 12:112453202-112453202	skin	malignant_melanoma	Substitution - Missense
c.340C>T; p.H114Y; 12:112453202-112453202	skin	malignant_melanoma	Substitution - Missense
c.1688G>T; p.C563F; 12:112502232-112502232	skin	malignant_melanoma	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	skin	malignant_melanoma	Substitution - Missense
c.851C>T; p.P284L; 12:112473038-112473038	skin	malignant_melanoma	Substitution - Missense
c.1471_1472CC>TT; p.P491F; 12:112489047-112489048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1478_1479CC>TT; p.T493I; 12:112489054-112489055	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	skin	malignant_melanoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	skin	malignant_melanoma	Substitution - Missense
c.98C>T; p.P33L; 12:112446359-112446359	skin	malignant_melanoma	Substitution - Missense
c.784C>T; p.L262F; 12:112472971-112472971	skin	malignant_melanoma	Substitution - Missense
c.1472C>T; p.P491L; 12:112489048-112489048	skin	malignant_melanoma	Substitution - Missense
c.1277A>T; p.H426L; 12:112486527-112486527	skin	malignant_melanoma	Substitution - Missense
c.1529_1530AG>TT; p.Q510L; 12:112489105-112489106	skin	malignant_melanoma	Substitution - Missense
c.1000C>T; p.L334L; 12:112477923-112477923	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1482C>T; p.I494I; 12:112489058-112489058	skin	malignant_melanoma	Substitution - coding silent
c.1704C>T; p.P568P; 12:112502248-112502248	skin	malignant_melanoma	Substitution - coding silent
c.1542C>T; p.I514I; 12:112489118-112489118	skin	malignant_melanoma	Substitution - coding silent
c.1517A>C; p.Q506P; 12:112489093-112489093	skin	malignant_melanoma	Substitution - Missense
c.1681C>T; p.P561S; 12:112502225-112502225	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	small_intestine; jejunum	carcinoma; adenocarcinoma	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	small_intestine; jejunum	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.565T>G; p.S189A; 12:112454603-112454603	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.616T>C; p.L206L; 12:112454654-112454654	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1242G>A; p.T414T; 12:112486492-112486492	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.591T>G; p.Y197*; 12:112454629-112454629	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.407T>A; p.L136H; 12:112453269-112453269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.408T>C; p.L136L; 12:112453270-112453270	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1623A>C; p.E541D; 12:112502167-112502167	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1232C>T; p.T411M; 12:112486482-112486482	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1467C>T; p.D489D; 12:112489043-112489043	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1282G>A; p.V428M; 12:112486532-112486532	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

Bioinformatics and cancer genomics links

Bioinformatics centers

Bioinformatics centers

Welcome to Bioinfo-MinZhao!