Entrez Gene

Basic Information
Gene ID	3575
Name	IL7R
Synonymous	interleukin 7 receptor;IL7R;interleukin 7 receptor
Definition	CD127 antigen\|IL-7 receptor subunit alpha\|IL-7R subunit alpha\|IL-7RA\|interleukin 7 receptor alpha chain\|interleukin 7 receptor isoform H5-6\|interleukin-7 receptor subunit alpha
Position	5p13
Gene Type	protein-coding

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

c.1216C>A; p.L406I; 5:35876322-35876322	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1268C>T; p.S423F; 5:35876374-35876374	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.759C>T; p.V253V; 5:35874501-35874501	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.380T>G; p.V127G; 5:35871056-35871056	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.38C>G; p.S13C; 5:35857015-35857015	breast	carcinoma	Substitution - Missense
c.544A>T; p.N182Y; 5:35873486-35873486	breast	carcinoma	Substitution - Missense
c.801-3C>G; p.?; 5:35875509-35875509	breast	carcinoma; ductal_carcinoma	Unknown
c.490A>G; p.M164V; 5:35871166-35871166	breast	carcinoma	Substitution - Missense
c.785T>C; p.V262A; 5:35874527-35874527	breast	carcinoma	Substitution - Missense
c.811A>C; p.I271L; 5:35875522-35875522	central_nervous_system; brain	glioma	Substitution - Missense
c.1181G>A; p.G394D; 5:35876287-35876287	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1181G>A; p.G394D; 5:35876287-35876287	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.471G>C; p.K157N; 5:35871147-35871147	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.346C>A; p.L116I; 5:35867430-35867430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.714G>A; p.M238I; 5:35874456-35874456	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.471G>T; p.K157N; 5:35871147-35871147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.51C>T; p.V17V; 5:35857028-35857028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.285G>A; p.E95E; 5:35867369-35867369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.780C>T; p.A260A; 5:35874522-35874522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.319A>T; p.I107L; 5:35867403-35867403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.986C>A; p.P329H; 5:35876092-35876092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.713T>C; p.M238T; 5:35874455-35874455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1242G>A; p.T414T; 5:35876348-35876348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.291G>T; p.K97N; 5:35867375-35867375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.606G>A; p.E202E; 5:35873548-35873548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1188T>C; p.N396N; 5:35876294-35876294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.340A>C; p.K114Q; 5:35867424-35867424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.275A>G; p.Y92C; 5:35867359-35867359	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.282C>T; p.I94I; 5:35867366-35867366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1185G>T; p.K395N; 5:35876291-35876291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.297C>A; p.F99L; 5:35867381-35867381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.753C>A; p.F251L; 5:35874495-35874495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.720_721insTGTTCT; p.P240_I241insCS; 5:35874462-35874463	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.731_731C>13; p.T244>KKCTN; 5:35874473-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.712_728>CCCTGTAA; p.M238_L243>PCK; 5:35874454-35874470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - deletion inframe
c.712_728>CCCTGTAA; p.M238_L243>PCK; 5:35874454-35874470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - deletion inframe
c.725_725T>GCTGGATGAA; p.L242>CWMK; 5:35874467-35874467	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.729_730ins12; p.L243_T244insKAGS; 5:35874471-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.729_730ins12; p.L243_T244insKAGS; 5:35874471-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.729_730ins12; p.L243_T244insKAGS; 5:35874471-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.729_731AAC>12; p.T244>SRCG; 5:35874471-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.729_730ins12; p.L243_T244insKAGS; 5:35874471-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.737G>C; p.S246T; 5:35874479-35874479	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.733_736ATCA>CACCGTGGGT; p.I245_S246>HRGC; 5:35874475-35874478	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.727_728CT>TGCCCCTCTCC; p.L243>CPSP; 5:35874469-35874470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.726_726A>GAGATGC; p.L242_L243insRC; 5:35874468-35874468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.729_730ins12; p.L243_T244insSRCL; 5:35874471-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.729_730ins12; p.L243_T244insPPCL; 5:35874471-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - In frame
c.729_732AACC>13; p.T244>NECS; 5:35874471-35874474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.726_730ACTAA>TACCTGCCCGT; p.L242_T244>FTCPS; 5:35874468-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.728_730TAA>12; p.L243_T244>PLCSA; 5:35874470-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.728_729ins12; p.L243_T244insVSCP; 5:35874470-35874471	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.719_736>TTAAGT; p.P240_S246>LKC; 5:35874461-35874478	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - deletion inframe
c.731_732ins21; p.T244_I245insPPVCSVT; 5:35874473-35874474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - In frame
c.731_732ins12; p.T244_I245insRPCG; 5:35874473-35874474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.731_732ins21; p.T244_I245insPPVCSVT; 5:35874473-35874474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - In frame
c.728_729TA>GCTGCCCGTCC; p.L243>RCPS; 5:35874470-35874471	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.725_731TACTAAC>16; p.L242_T243>CGIREI; 5:35874467-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.731_732ins15; p.T244_I245insLPCVY; 5:35874473-35874474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.726_727ins15; p.L242_L243insFCRKD; 5:35874468-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.232G>A; p.V78M; 5:35867316-35867316	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.731C>T; p.T244I; 5:35874473-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.731C>T; p.T244I; 5:35874473-35874473	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.732_732C>GTGCCACCTA; p.T244_I245insCHL; 5:35874474-35874474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - In frame
c.726_730ACTAA>20; p.L242_T244>FHPFNCGP; 5:35874468-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.760_761ins9; p.V253_A254insGEA; 5:35874502-35874503	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.739A>G; p.I247V; 5:35874481-35874481	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.727_728insGGCGGA; p.L243>RRI; 5:35874469-35874470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.727_728insGGCGGA; p.L243>RRI; 5:35874469-35874470	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - insertion inframe
c.726_727ins12; p.L242_L243insLSRC; 5:35874468-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.725_730TACTAA>GCCCCC; p.L242_T244>CPP; 5:35874467-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - compound substitution
c.727_728ins12; p.L243>RLECV; 5:35874469-35874470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.740_740T>AATGTCA; p.I247>KCH; 5:35874482-35874482	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - insertion inframe
c.730_731ins9; p.L243_T244insMCP; 5:35874472-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.553A>T; p.S185C; 5:35873495-35873495	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.553A>T; p.S185C; 5:35873495-35873495	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.553A>T; p.S185C; 5:35873495-35873495	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.553A>T; p.S185C; 5:35873495-35873495	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.758T>G; p.V253G; 5:35874500-35874500	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.761_763CTC>AAAAAG; p.A254_L255>EKV; 5:35874503-35874505	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.727_727C>GGCTGTA; p.L243>GCI; 5:35874469-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.710_726>CCTCCTGGTGC; p.E237_L242>ASWC; 5:35874452-35874468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - deletion inframe
c.861T>C; p.C287C; 5:35875572-35875572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.710_726>CCTCCTGGTGC; p.E237_L242>ASWC; 5:35874452-35874468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - deletion inframe
c.726_726A>13; p.L242>FSCGP; 5:35874468-35874468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Complex - insertion inframe
c.725_728TACT>22; p.L242_L243>WAALLNCE; 5:35874467-35874470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.731_732ins9; p.T244_I245insCPT; 5:35874473-35874474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.726_727insGGCTGT; p.L242_L243insGC; 5:35874468-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.722_730TCTTACTAA>15; p.I241_T244>SANCGA; 5:35874464-35874472	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.748_759TTTTTCTCTGTC>12; p.F250_V253>PLGE; 5:35874490-35874501	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - compound substitution
c.728_731TAAC>19; p.L243_T244>PIYRCVL; 5:35874470-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.719_736>TCCAATCAT; p.P240_S246>LQSC; 5:35874461-35874478	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - deletion inframe
c.726_726A>16; p.L242>FDCIGV; 5:35874468-35874468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.726_729ACTA>16; p.L242_L243>FPHQHC; 5:35874468-35874471	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.728_731TAAC>CGTGCCCCCT; p.L243_T244>PCPL; 5:35874470-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.727_727C>GGCTGTT; p.L242_L243insGC; 5:35874469-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.719_731CTATCTTACTAAC>13; p.P240_T244>RFCPH; 5:35874461-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - compound substitution
c.727_728insGGTTGC; p.L242_L243insRL; 5:35874469-35874470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.727_728insGGTTGC; p.L242_L243insRL; 5:35874469-35874470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.748_749ins24; p.S249_F250insCSTISILS; 5:35874490-35874491	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.720_726TATCTTA>13; p.I241_L242>CRPH; 5:35874462-35874468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.726_727insGAAGGC; p.L242_L243insEG; 5:35874468-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.743_755>GTCAAAG; p.L248_S251>CQ; 5:35874485-35874497	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - deletion inframe
c.730_731AC>CGGAT; p.T244>RI; 5:35874472-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.734_736TCA>12; p.I245_S246>SHQPC; 5:35874476-35874478	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.717_727>17; p.P240_L242>QSPSC; 5:35874459-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.758_759insGGTTCTCTG; p.V253_A254insVLC; 5:35874500-35874501	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.758_759insGGTTCTCTG; p.V253_A254insVLC; 5:35874500-35874501	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.757_758ins9; p.V253>GPSL; 5:35874499-35874500	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.721_722AT>TG; p.I241C; 5:35874463-35874464	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.730_731ins21; p.L243_T244insMPEQDCP; 5:35874472-35874473	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.726_727ins9; p.L242_L243insNPC; 5:35874468-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.741_741T>CCAATGG; p.I247_L248insQW; 5:35874483-35874483	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.722_727TCTTAC>CCTGCT; p.I241_L242>TC; 5:35874464-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - compound substitution
c.755_761CTGTCGC>GGAA; p.S252_A254>WN; 5:35874497-35874503	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - deletion inframe
c.731_732ins18; p.T244_I245insNPPCGT; 5:35874473-35874474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - In frame
c.724_736TTACTAACCATCA>13; p.L242_S246>PQGGC; 5:35874466-35874478	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - compound substitution
c.726_726A>TGAGTGT; p.L242>FEC; 5:35874468-35874468	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Complex - insertion inframe
c.726_727ins18; p.L242_L243insLTARGC; 5:35874468-35874469	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Insertion - In frame
c.758T>C; p.V253A; 5:35874500-35874500	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.444G>T; p.V148V; 5:35871120-35871120	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.937G>T; p.D313Y; 5:35876043-35876043	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.793delA; p.R267fs*28; 5:35874535-35874535	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.793delA; p.R267fs*28; 5:35874535-35874535	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.793delA; p.R267fs*28; 5:35874535-35874535	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.793delA; p.R267fs*28; 5:35874535-35874535	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.793delA; p.R267fs*28; 5:35874535-35874535	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.297C>T; p.F99F; 5:35867381-35867381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.337G>A; p.E113K; 5:35867421-35867421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.481A>C; p.K161Q; 5:35871157-35871157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1049C>G; p.P350R; 5:35876155-35876155	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.412G>A; p.V138I; 5:35871088-35871088	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.412G>A; p.V138I; 5:35871088-35871088	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.167C>T; p.T56I; 5:35860936-35860936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.270G>T; p.E90D; 5:35867354-35867354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.764T>C; p.L255P; 5:35874506-35874506	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.764T>C; p.L255P; 5:35874506-35874506	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.550T>C; p.S184P; 5:35873492-35873492	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1102A>G; p.T368A; 5:35876208-35876208	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.495C>T; p.H165H; 5:35871171-35871171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.980C>T; p.T327M; 5:35876086-35876086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166A>G; p.T56A; 5:35860935-35860935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166A>G; p.T56A; 5:35860935-35860935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166A>G; p.T56A; 5:35860935-35860935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.166A>G; p.T56A; 5:35860935-35860935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>T; p.D29Y; 5:35860854-35860854	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>T; p.T244I; 5:35874473-35874473	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>T; p.T244I; 5:35874473-35874473	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>T; p.T244I; 5:35874473-35874473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>T; p.T244I; 5:35874473-35874473	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.799_799delA; p.R267fs*28; 5:35874541-35874541	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.799_799delA; p.R267fs*28; 5:35874541-35874541	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.591G>A; p.P197P; 5:35873533-35873533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.759C>T; p.V253V; 5:35874501-35874501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.445A>G; p.T149A; 5:35871121-35871121	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.237G>T; p.E79D; 5:35867321-35867321	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1276C>T; p.L426L; 5:35876382-35876382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1162C>G; p.L388V; 5:35876268-35876268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.197T>C; p.I66T; 5:35860966-35860966	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.197T>C; p.I66T; 5:35860966-35860966	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>T; p.E446*; 5:35876442-35876442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.330G>T; p.K110N; 5:35867414-35867414	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.13G>T; p.G5C; 5:35856990-35856990	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>T; p.L190F; 5:35873510-35873510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.623T>C; p.I208T; 5:35873565-35873565	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1088G>A; p.R363K; 5:35876194-35876194	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.973C>T; p.Q325*; 5:35876079-35876079	liver	carcinoma	Substitution - Nonsense
c.973C>T; p.Q325*; 5:35876079-35876079	liver	carcinoma	Substitution - Nonsense
c.844A>G; p.T282A; 5:35875555-35875555	liver	carcinoma	Substitution - Missense
c.881T>A; p.L294*; 5:35875987-35875987	liver	carcinoma	Substitution - Nonsense
c.881T>A; p.L294*; 5:35875987-35875987	liver	carcinoma	Substitution - Nonsense
c.1057G>T; p.D353Y; 5:35876163-35876163	liver	carcinoma	Substitution - Missense
c.453T>A; p.N151K; 5:35871129-35871129	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1138C>A; p.P380T; 5:35876244-35876244	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.734T>A; p.I245N; 5:35874476-35874476	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1082T>A; p.F361Y; 5:35876188-35876188	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.707G>T; p.G236V; 5:35874449-35874449	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.638T>G; p.F213C; 5:35873580-35873580	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.510C>A; p.R170R; 5:35871186-35871186	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.400G>T; p.D134Y; 5:35871076-35871076	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>T; p.D134Y; 5:35871076-35871076	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.538-1G>T; p.?; 5:35873479-35873479	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.931G>A; p.V311M; 5:35876037-35876037	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.264A>G; p.L88L; 5:35867348-35867348	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.423A>G; p.E141E; 5:35871099-35871099	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1184A>T; p.K395M; 5:35876290-35876290	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.511C>A; p.Q171K; 5:35871187-35871187	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.570C>A; p.L190L; 5:35873512-35873512	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.372C>A; p.T124T; 5:35867456-35867456	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.377T>C; p.I126T; 5:35867461-35867461	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1151C>A; p.S384Y; 5:35876257-35876257	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1151C>A; p.S384Y; 5:35876257-35876257	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.732C>A; p.T244T; 5:35874474-35874474	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.161C>T; p.S54L; 5:35860930-35860930	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.161C>T; p.S54L; 5:35860930-35860930	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1161C>A; p.S387S; 5:35876267-35876267	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.876A>T; p.K292N; 5:35875587-35875587	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1280C>T; p.T427I; 5:35876386-35876386	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1248C>G; p.P416P; 5:35876354-35876354	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1170C>A; p.C390*; 5:35876276-35876276	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.282C>T; p.I94I; 5:35867366-35867366	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1356G>T; p.M452I; 5:35876462-35876462	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.682A>G; p.T228A; 5:35873624-35873624	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.911T>A; p.L304Q; 5:35876017-35876017	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.135G>T; p.Q45H; 5:35860904-35860904	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1130G>C; p.C377S; 5:35876236-35876236	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.688G>T; p.E230*; 5:35873630-35873630	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.664C>A; p.P222T; 5:35873606-35873606	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1362C>A; p.S454R; 5:35876468-35876468	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.374C>A; p.T125N; 5:35867458-35867458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1328C>A; p.S443*; 5:35876434-35876434	NS	NS	Substitution - Nonsense
c.37T>A; p.S13T; 5:35857014-35857014	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1184A>C; p.K395T; 5:35876290-35876290	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.221+2T>C; p.?; 5:35860992-35860992	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1094C>T; p.S365L; 5:35876200-35876200	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1184A>G; p.K395R; 5:35876290-35876290	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1184A>G; p.K395R; 5:35876290-35876290	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.667A>G; p.S223G; 5:35873609-35873609	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1140T>C; p.P380P; 5:35876246-35876246	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1228A>G; p.T410A; 5:35876334-35876334	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1102A>T; p.T368S; 5:35876208-35876208	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.166A>T; p.T56S; 5:35860935-35860935	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.526A>T; p.N176Y; 5:35871202-35871202	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.852A>T; p.E284D; 5:35875563-35875563	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.363A>T; p.I121I; 5:35867447-35867447	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.427G>T; p.A143S; 5:35871103-35871103	pancreas	carcinoma	Substitution - Missense
c.1242G>C; p.T414T; 5:35876348-35876348	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.511C>A; p.Q171K; 5:35871187-35871187	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1022G>A; p.G341E; 5:35876128-35876128	skin	malignant_melanoma	Substitution - Missense
c.1022G>A; p.G341E; 5:35876128-35876128	skin	malignant_melanoma	Substitution - Missense
c.418C>T; p.R140W; 5:35871094-35871094	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1268C>T; p.S423F; 5:35876374-35876374	skin	malignant_melanoma	Substitution - Missense
c.297C>T; p.F99F; 5:35867381-35867381	skin	malignant_melanoma	Substitution - coding silent
c.307G>A; p.G103R; 5:35867391-35867391	skin	malignant_melanoma	Substitution - Missense
c.768G>A; p.L256L; 5:35874510-35874510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.394C>T; p.P132S; 5:35871070-35871070	skin	malignant_melanoma	Substitution - Missense
c.1184A>C; p.K395T; 5:35876290-35876290	skin	malignant_melanoma	Substitution - Missense
c.872G>A; p.R291K; 5:35875583-35875583	skin	malignant_melanoma	Substitution - Missense
c.1052C>T; p.S351F; 5:35876158-35876158	skin	malignant_melanoma	Substitution - Missense
c.1210C>T; p.L404F; 5:35876316-35876316	skin	malignant_melanoma	Substitution - Missense
c.537+1G>A; p.?; 5:35871214-35871214	skin	malignant_melanoma	Unknown
c.955G>A; p.E319K; 5:35876061-35876061	skin	malignant_melanoma	Substitution - Missense
c.1210C>T; p.L404F; 5:35876316-35876316	skin; mucosal	malignant_melanoma	Substitution - Missense
c.898C>T; p.P300S; 5:35876004-35876004	skin	malignant_melanoma	Substitution - Missense
c.898C>T; p.P300S; 5:35876004-35876004	skin	malignant_melanoma	Substitution - Missense
c.898C>T; p.P300S; 5:35876004-35876004	skin	malignant_melanoma	Substitution - Missense
c.604G>A; p.E202K; 5:35873546-35873546	skin	malignant_melanoma	Substitution - Missense
c.604G>A; p.E202K; 5:35873546-35873546	skin	malignant_melanoma	Substitution - Missense
c.604G>A; p.E202K; 5:35873546-35873546	skin	malignant_melanoma	Substitution - Missense
c.604G>A; p.E202K; 5:35873546-35873546	skin	malignant_melanoma	Substitution - Missense
c.604G>A; p.E202K; 5:35873546-35873546	skin; ear	malignant_melanoma	Substitution - Missense
c.82G>A; p.G28R; 5:35857059-35857059	skin	malignant_melanoma	Substitution - Missense
c.1238G>A; p.S413N; 5:35876344-35876344	skin	malignant_melanoma	Substitution - Missense
c.1238G>A; p.S413N; 5:35876344-35876344	skin	malignant_melanoma	Substitution - Missense
c.877-1G>A; p.?; 5:35875982-35875982	skin	malignant_melanoma	Unknown
c.669T>G; p.S223R; 5:35873611-35873611	skin	malignant_melanoma	Substitution - Missense
c.85G>A; p.D29N; 5:35860854-35860854	skin	malignant_melanoma	Substitution - Missense
c.800+1G>A; p.?; 5:35874543-35874543	skin	malignant_melanoma	Unknown
c.595G>A; p.A199T; 5:35873537-35873537	skin	malignant_melanoma	Substitution - Missense
c.424G>A; p.G142R; 5:35871100-35871100	skin	malignant_melanoma	Substitution - Missense
c.616C>T; p.R206*; 5:35873558-35873558	skin	malignant_melanoma	Substitution - Nonsense
c.1021G>A; p.G341R; 5:35876127-35876127	skin	malignant_melanoma	Substitution - Missense
c.1021G>A; p.G341R; 5:35876127-35876127	skin	malignant_melanoma	Substitution - Missense
c.814G>A; p.V272I; 5:35875525-35875525	skin	malignant_melanoma	Substitution - Missense
c.792G>A; p.W264*; 5:35874534-35874534	skin	malignant_melanoma	Substitution - Nonsense
c.1319C>T; p.S440F; 5:35876425-35876425	skin	malignant_melanoma	Substitution - Missense
c.1263C>T; p.L421L; 5:35876369-35876369	skin	malignant_melanoma	Substitution - coding silent
c.813C>T; p.I271I; 5:35875524-35875524	skin	malignant_melanoma	Substitution - coding silent
c.813C>T; p.I271I; 5:35875524-35875524	skin	malignant_melanoma	Substitution - coding silent
c.813C>T; p.I271I; 5:35875524-35875524	skin	malignant_melanoma	Substitution - coding silent
c.894C>T; p.F298F; 5:35876000-35876000	skin	malignant_melanoma	Substitution - coding silent
c.894C>T; p.F298F; 5:35876000-35876000	skin	malignant_melanoma	Substitution - coding silent
c.894C>T; p.F298F; 5:35876000-35876000	skin	malignant_melanoma	Substitution - coding silent
c.879T>A; p.N293K; 5:35875985-35875985	skin	malignant_melanoma	Substitution - Missense
c.617G>A; p.R206Q; 5:35873559-35873559	skin	malignant_melanoma	Substitution - Missense
c.1154C>T; p.S385F; 5:35876260-35876260	skin	malignant_melanoma	Substitution - Missense
c.910C>T; p.L304L; 5:35876016-35876016	skin	malignant_melanoma	Substitution - coding silent
c.611A>T; p.K204I; 5:35873553-35873553	skin	malignant_melanoma	Substitution - Missense
c.1057G>A; p.D353N; 5:35876163-35876163	skin	malignant_melanoma	Substitution - Missense
c.1006G>A; p.E336K; 5:35876112-35876112	skin	malignant_melanoma	Substitution - Missense
c.930G>A; p.R310R; 5:35876036-35876036	skin	malignant_melanoma	Substitution - coding silent
c.759C>T; p.V253V; 5:35874501-35874501	skin	malignant_melanoma	Substitution - coding silent
c.1174G>A; p.E392K; 5:35876280-35876280	skin	malignant_melanoma	Substitution - Missense
c.835C>T; p.H279Y; 5:35875546-35875546	skin	malignant_melanoma	Substitution - Missense
c.835C>T; p.H279Y; 5:35875546-35875546	skin	malignant_melanoma	Substitution - Missense
c.520G>A; p.D174N; 5:35871196-35871196	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.207G>A; p.L69L; 5:35860976-35860976	skin	malignant_melanoma	Substitution - coding silent
c.1085G>A; p.G362E; 5:35876191-35876191	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.G362E; 5:35876191-35876191	skin	malignant_melanoma	Substitution - Missense
c.1115G>A; p.G372E; 5:35876221-35876221	skin	malignant_melanoma	Substitution - Missense
c.693C>T; p.I231I; 5:35873635-35873635	skin	malignant_melanoma	Substitution - coding silent
c.255C>T; p.F85F; 5:35867339-35867339	skin	malignant_melanoma	Substitution - coding silent
c.1161C>T; p.S387S; 5:35876267-35876267	skin	malignant_melanoma	Substitution - coding silent
c.1148C>T; p.S383F; 5:35876254-35876254	skin	malignant_melanoma	Substitution - Missense
c.69C>T; p.G23G; 5:35857046-35857046	skin	malignant_melanoma	Substitution - coding silent
c.69C>T; p.G23G; 5:35857046-35857046	skin	malignant_melanoma	Substitution - coding silent
c.707G>A; p.G236E; 5:35874449-35874449	skin	malignant_melanoma	Substitution - Missense
c.528C>A; p.N176K; 5:35871204-35871204	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.829C>T; p.P277S; 5:35875540-35875540	skin	malignant_melanoma	Substitution - Missense
c.624C>T; p.I208I; 5:35873566-35873566	skin	malignant_melanoma	Substitution - coding silent
c.425G>A; p.G142E; 5:35871101-35871101	skin	malignant_melanoma	Substitution - Missense
c.34T>A; p.F12I; 5:35857011-35857011	skin	malignant_melanoma	Substitution - Missense
c.1097C>T; p.S366F; 5:35876203-35876203	skin	malignant_melanoma	Substitution - Missense
c.1212C>T; p.L404L; 5:35876318-35876318	skin	malignant_melanoma	Substitution - coding silent
c.1151C>T; p.S384F; 5:35876257-35876257	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.680G>A; p.R227K; 5:35873622-35873622	skin	malignant_melanoma	Substitution - Missense
c.208G>A; p.E70K; 5:35860977-35860977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.291G>A; p.K97K; 5:35867375-35867375	skin	malignant_melanoma	Substitution - coding silent
c.706+6G>A; p.?; 5:35873654-35873654	skin; trunk	malignant_melanoma; nodular	Unknown
c.631C>T; p.H211Y; 5:35873573-35873573	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.106G>A; p.D36N; 5:35860875-35860875	skin	malignant_melanoma	Substitution - Missense
c.840G>A; p.K280K; 5:35875551-35875551	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.763C>T; p.L255L; 5:35874505-35874505	skin	malignant_melanoma	Substitution - coding silent
c.650G>A; p.W217*; 5:35873592-35873592	skin	malignant_melanoma	Substitution - Nonsense
c.1024G>A; p.G342R; 5:35876130-35876130	skin	malignant_melanoma	Substitution - Missense
c.1008G>A; p.E336E; 5:35876114-35876114	skin	malignant_melanoma	Substitution - coding silent
c.1008G>A; p.E336E; 5:35876114-35876114	skin	malignant_melanoma	Substitution - coding silent
c.411C>T; p.V137V; 5:35871087-35871087	skin	malignant_melanoma	Substitution - coding silent
c.412G>A; p.V138I; 5:35871088-35871088	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.999A>C; p.E333D; 5:35876105-35876105	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1184A>C; p.K395T; 5:35876290-35876290	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.341A>C; p.K114T; 5:35867425-35867425	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.980C>T; p.T327M; 5:35876086-35876086	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.616C>T; p.R206*; 5:35873558-35873558	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1348G>A; p.V450I; 5:35876454-35876454	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.731C>T; p.T244I; 5:35874473-35874473	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.131G>T; p.S44I; 5:35860900-35860900	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1217T>G; p.L406R; 5:35876323-35876323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.197T>C; p.I66T; 5:35860966-35860966	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.119T>C; p.F40S; 5:35860888-35860888	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1203C>A; p.Y401*; 5:35876309-35876309	thyroid	other; neoplasm	Substitution - Nonsense
c.412G>A; p.V138I; 5:35871088-35871088	thyroid	other; neoplasm	Substitution - Missense
c.872G>C; p.R291T; 5:35875583-35875583	thyroid	carcinoma	Substitution - Missense
c.1078A>G; p.S360G; 5:35876184-35876184	thyroid	carcinoma	Substitution - Missense
c.800G>T; p.R267M; 5:35874542-35874542	thyroid	carcinoma	Substitution - Missense
c.590C>T; p.P197L; 5:35873532-35873532	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.938A>G; p.D313G; 5:35876044-35876044	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112C>T; p.A371V; 5:35876218-35876218	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714G>A; p.M238I; 5:35874456-35874456	urinary_tract; bladder	carcinoma	Substitution - Missense
c.285G>C; p.E95D; 5:35867369-35867369	urinary_tract; bladder	carcinoma	Substitution - Missense
c.239T>C; p.V80A; 5:35867323-35867323	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.239T>C; p.V80A; 5:35867323-35867323	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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