|
AKT1
|
49 G>A
|
293T-AKT1-1
|
delTG(43-44) Homo
|
|
293T-AKT1-2
|
49G>A(COSM33765)hetero+55insT&49G>A(COSM33765)Hetero
|
|
AKT3
|
232C>A
|
293T-AKT3-1
|
232C>A(COSM242892)Hetero+del231-238(8bp) Hetero+236delG&235T>A Hetero
|
|
293T-AKT3-2
|
232C>A(COSM242892)Hetero
|
|
ALK
|
3824 G>A
|
293T-ALK-1
|
3824G>A(COSM28056)Homo
|
|
293T-ALK-2
|
3824G>A(COSM28056)Hetero
|
|
BAP1
|
178 C>T
|
293T-BAP1-1
|
178C>T(COSM110721)Hetero
|
|
293T-BAP1-2
|
178C>T(COSM110721)Hetero&160-173(14bp) duplicate
|
|
BIM
|
585G>C
|
293T-BIM-1
|
585G>C(COSM389356)Homo+590 insTHetero
|
|
293T-BIM-2
|
585G>C(COSM389356)Hetero
|
|
BRAF
|
1817G>A
|
293T-BRAF-1
|
1817G>A(COSM1137)Hetero
|
|
293T-BRAF-2
|
1817G>A(COSM1137)Hetero
|
|
293T-BRAF-3
|
1817G>A(COSM1137)Hetero+1820delC&1817G>A(COSM1137)Hetero
|
|
293T-BRAF-4
|
1817G>A(COSM1137)Hetero+1811insG Hetero
|
|
293T-BRAF-5
|
1817G>A(COSM1137)Homo
|
|
CDKN2A
|
238 C>T
|
293T-CDKN2A-1
|
238C>T(COSM12475)Hetero
|
|
293T-CDKN2A-2
|
238C>T(COSM12475)Homo
|
|
CTNNB1
|
121 A>G
|
293T-CTNNB1-1
|
121A>G(COSM5664)Homo+del116-9&112G>A Hetero+del114-9 Hetero
|
|
293T-CTNNB1-2
|
121A>G(COSM5664)Homo
|
|
DNMT3A
|
2645 G>A
|
293T-DNMT3A-1
|
2643insC Homo
|
|
293T-DNMT3A-2
|
2645G>A(COSM52944)Hetero
|
|
ERBB3
|
310 G>A
|
293T-ERBB3-1
|
306insC Homo
|
|
293T-ERBB3-2
|
310G>A(COSM20710)Hetero
|
|
EZH2
|
1937 A>T
|
293T-EZH2-1
|
1937A>T(COSM37028)Homo+1831T>C Homo
|
|
293T-EZH2-2
|
1937A>T(COSM37028)Homo
|
|
FBXW7
|
1513 C>T
|
293T-FBXW7-1
|
1518insT Homo
|
|
293T-FBXW7-2
|
1518insT Hetero+1518insCA Hetero
|
|
FGFR3
|
746 C>G
|
293T-FGFR3-1
|
752insA Homo
|
|
293T-FGFR3-2
|
746C>G(COSM715)Hetero
|
|
HRAS
|
183 G>T
|
293T-HRAS-1
|
183G>T(COSM502)Homo
|
|
293T-HRAS-2
|
183G>T(COSM502)Hetero
|
|
IDH2
|
515 G>A
|
293T-IDH2-1
|
515G>A(COSM33733)Hetero+512G>A(COSM86960) Hetero
|
|
293T-IDH2-2
|
515G>A(COSM33733)Hetero
|
|
IGF2
|
293C>T
|
293T-IGF2-1
|
293C>T(COSM1561457)Hetero&del276-289(14bp)Hetero +294-295insCA+del270-283(14bp)Hetero
|
|
293T-IGF2-2
|
293C>T(COSM1561457)Hetero
|
|
JAK2
|
1849 G>T
|
293T-JAK2-1
|
1849G>T(COSM12600)Homo
|
|
293T-JAK2-2
|
1849G>T(COSM12600)Hetero
|
|
KIT
|
2447 A>T
|
293T-KIT-1
|
2447A>T(COSM1314)Homo
|
|
293T-KIT-2
|
2447A>T(COSM1314)Hetero
|
|
KNSTRN
|
71 C>T
|
293T-KNSTRN-1
|
71C>T(COSM140056) Homo
|
|
293T-KNSTRN-2
|
71C>T(COSM140056) &Del67-69(3bp) Homo
|
|
KRAS
|
35 G>A
|
293T-KRAS-1
|
32insC Homo+35G>A(COSM521)Hetero+del30-38(9bp) Hetero
|
|
293T-KRAS-2
|
35G>A(COSM521)Hetero+33delT Hetero
|
|
293T-KRAS-3
|
35G>A(COSM521)Hetero
|
|
293T-KRAS-4
|
35G>A(COSM521)&30-33AGCT>CGTA Hetero+32insC Hetero
|
|
293T-KRAS-5
|
35G>A(COSM521)&del20-34(15bp)Hetero+32insCC Hetero+32insC Hetero
|
|
MAGOH
|
410 T>C
|
293T-MAGOH-1
|
410T>C(COSM535605)Hetero
|
|
293T-MAGOH-2
|
410T>C(COSM535605)&407delT Hetero
|
|
MAP2K1
|
370 C>T
|
293T-MAP2K1-1
|
370C>T(COSM235614)Hetero+370C>T(COSM235614)Hetero&376insA hetero+358-377(20bp) duplicate Hetero
|
|
293T-MAP2K1-2
|
376insA Homo
|
|
MAPK1
|
964 G>A
|
293T-MAPK1-1
|
960insG Homo
|
|
293T-MAPK1-2
|
del962-968(7bp) Hetero+del962-969&4bp(12bp) Hetero+del926-969&69bp(113bp) Hetero
|
|
MDM2
|
994 C>T
|
293T-MDM2-1
|
995insG Homo
|
|
293T-MDM2-2
|
994C>T(COSM431747)Hetero
|
|
MET
|
3029 C>T
|
293T-MET-1
|
3029C>T(COSM707)Hetero
|
|
293T-MET-2
|
3029C>T(COSM707)Homo
|
|
MTOR
|
6644 C>A
|
293T-MTOR-1
|
6644C>A(COSM20417)Hetero
|
|
293T-MTOR-2
|
6644C>A(COSM20417)Homo
|
|
MYCN
|
1132 G>A
|
293T-MYCN-1
|
1132G>A(COSM229914)Homo
|
|
293T-MYCN-2
|
1132G>A(COSM229914)Hetero+1126delG Hetero
|
|
NOTCH1
|
4799 T>C
|
293T-NOTCH1-1
|
4799T>C(COSM12771)Hetero
|
|
293T-NOTCH1-2
|
4797insG Homo
|
|
NRAS
|
35 G>A
|
293T-NRAS-1
|
35G>A(COSM564)Homo
|
|
293T-NRAS-2
|
35G>A(COSM564)Homo
|
|
293T-NRAS-3
|
34G>T(COSM562)Hetero
|
|
293T-NRAS-4
|
35G>A(COSM564)Hetero+30-31AG>GAAA Hetero
|
|
293T-NRAS-5
|
35G>A(COSM564)Hetero+del30-44(15bp) Hetero
|
|
PDGFRA
|
2525 A>T
|
293T-PDGFRA-1
|
2525A>T(COSM736)Homo
|
|
293T-PDGFRA-2
|
2525A>T(COSM736)Hetero
|
|
PIK3CA
|
3140A>G
|
293T-PIK3CA-1
|
3140A>G(COSM775)Hetero+3143insA Hetero
|
|
293T-PIK3CA-2
|
3144T>G(COSM27157)Homo
|
|
293T-PIK3CA-3
|
3140A>G(COSM775)Hetero+del3131-42(12bp) Hetero
|
|
293T-PIK3CA-4
|
3140A>G(COSM775)Hetero
|
|
293T-PIK3CA-5
|
3140A>G(COSM775)Hetero+del3102-47(46bp) Hetero
|
|
PTEN
|
697 C>T
|
293T-PTEN-1
|
63-64 CG>(T,C,G)(T,C,G)(A,G) (ins 1bp for 3 alleles)
|
|
293T-PTEN-2
|
697C>T(COSM5154)Hetero
|
|
293T-PTEN-3
|
697C>T(COSM5154)Hetero+697insA Hetero+697-698CG>TT Hetero
|
|
293T-PTEN-4
|
697insGorA Hetero
|
|
293T-PTEN-5
|
697C>T(COSM5154)Hetero&Del 546-672(127bp)&546 5bp ins(535-539) & Del697-715(19bp) Hetero +WT
|
|
SMO
|
1234C>T
|
293T-SMO-1
|
1234C>T(COSM216037)Homo
|
|
293T-SMO-2
|
1234C>T(COSM216037)Hetero
|
|
STAT3
|
1919 A>T
|
293T-STAT3-1
|
1921insA Homo
|
|
293T-STAT3-2
|
1919A>T(COSM1155743)Hetero
|
|
TP53
|
743 G>A
|
293T-TP53-1
|
743G>A(COSM10662)Homo+746G>A(COSM44091)Homo
|
|
293T-TP53-2
|
743G>A(COSM10662)Hetero
|
|
293T-TP53-3
|
743G>A(COSM10662)Homo
|
|
293T-TP53-4
|
743G>A(COSM10662)Homo
|
|
293T-TP53-5
|
743G>A(COSM10662)&746delG Homo
|
