Table 2 High confidence mutations and recurrent copy number variants identified by MSK-IMPACT, Ion AmpliSeq, or whole-exome sequencing
Case # | Analysis | Gene | Type of mutation | Protein | MCL amplification | CDKN2A loss |
---|---|---|---|---|---|---|
1 | MSK-IMPACT | JAK | Missense mutation | p.V1009D | Yes | No |
DNMT3A | Missense mutation | p.R181H | ||||
TET2 | Missense mutation | p.E755K | ||||
ARHGAP26 | Missense mutation | p.R103Q | ||||
ROR2 | Missense mutation | p.R522Q | ||||
MLL2 | Nonsense mutation | p.E3587* | ||||
2 | MSK-IMPACT | MLL2 MLL2 | Nonsense mutation | p.R2471* | No | No |
Frame_Shift_Ins | p.L4518fs | |||||
3 | MSK-IMPACT | NOTCH2 | Missense mutation | p.N632S | Yes | No |
IRF4 | Missense mutation | p.E130G | ||||
DNMT3B | Missense mutation | p.G511C | ||||
BCOR | Frame_Shift_Ins | p.E1484fs | ||||
4 | MSK-IMPACT | None | None | None | No | No |
5 | MSK-IMPACT | MAP2K1 | Missense mutation | p.E51G | Yes | No |
FAM123B | Splice_Site | p.Q2048fs | ||||
MLL3 | Frame_Shift_Del | |||||
MAP2K1 | In_Frame_Ins | p.59_60insQK | ||||
6 | MSK-IMPACT | EPHA2 | Missense mutation | p.A112T | Yes | No |
BRCA2 | Missense mutation | p.G1771D | ||||
7a | MSK-IMPACT | PTEN | In_Frame_Del | p.T319 | No | Yes |
NPM1 | Missense mutation | p.S125L | ||||
MLL3 | Missense mutation | p.K992M | ||||
8 | MSK-IMPACT | None | None | None | Yes | No |
9 | MSK-IMPACT | BAP1 | Splice_Site | p.E577_splice | No | No |
10 | MSK-IMPACT | INPP4A | Missense mutation | p.N308T | No | Yes |
KDR | Missense mutation | p.M559I | ||||
11a | MSK-IMPACT | AXIN1 | Missense mutation | p.E195* | No | No |
BAP1 | Missense mutation | p.R213H | ||||
FLT4 | Splice_Site | p.P1023R | ||||
PBRM1 | Missense mutation | |||||
12 | MSK-IMPACT | XPO1 | Missense mutation | p.L660F | No | No |
13 | MSK-IMPACT | PIK3CA | Missense mutation | p.G1049R | No | No |
EED | Missense mutation | p.N194S | ||||
FGFR4 | Frame_Shift | p.R464Pfs*32 | ||||
14 | MSK-IMPACT | PIK3CA | Missense mutation | p.H1047R | No | No |
BAP1 | Nonsense mutation | p.S319* | ||||
ATRX | Missense mutation | p.I47V | ||||
CRKL | Missense mutation | p.G136E | ||||
MLL1 | Missense mutation | p.I962V | ||||
SPEN | Missense mutation | p.A3060V | ||||
15 | MSK-IMPACT | SMARCA4 | Missense mutation | p.R885C | No | Yes |
NTRK1 | Missense mutation | p.G181E | ||||
16 intraductal & invasive tumor | MSK-IMPACT | ZFHX3 | Deletion | p.G3517_G3527del | No | No |
17a | MSK-IMPACT | None | None | None | Yes | No |
18 primary pancreatic tumor | MSK-IMPACT | CEBPA | Missense mutation | p.R86P | No | No |
18 recurrent pancreatic tumor | MSK-IMPACT | CDKN2A | Nonsense mutation | p.Y129* | No | No |
RET | Missense mutation | p.L80R | ||||
18 celiac LN metastasis | MSK-IMPACT | None | None | None | No | No |
19 | Ion AmpliSeq | TRIP11 | Missense mutation | p.L872H | Not applicable | Not applicable |
20 | Ion AmpliSeq | AXL | Missense mutation | p.R190H | Not applicable | Not applicable |
PIK3CB | Missense mutation | p.L35V | ||||
21 | Whole-exome seq | SYCP1 | Splice site mutation | — | Yes | Yes |
USH2A | Missense mutation | p.R878C | ||||
SLC4A10 | Missense mutation | p.D208H | ||||
CTNNB1 | Missense mutation | p.S45F | ||||
CBLB | Missense mutation | p.G259V | ||||
PIK3CA | Missense mutation | p.E545K | ||||
EPHB3 | Missense mutation | p.Y855H | ||||
ETFDH | Missense mutation | p.G75D | ||||
FAT1 | Missense mutation | p.E2401K | ||||
FAM170A | Missense mutation | p.R65C | ||||
HIST1H4K | Nonsense Mutation | p.E64* | ||||
MYB | Missense mutation | p.R73Q | ||||
MUC12 | Missense mutation | p.N4428D | ||||
EHBP1L1 | Missense mutation | p.R1138H | ||||
UBASH3B | Missense mutation | p.E257K | ||||
KCNA5 | Missense mutation | p.A50V | ||||
TM7SF3 | Frameshift Insertion | p.S246fs | ||||
CNTN1 | Missense mutation | p.P271L | ||||
OSBPL8 | Missense mutation | p.R318Q | ||||
CLK3 | Nonsense Mutation | p.Y36* | ||||
TP53 | Missense mutation | p.P113L | ||||
MYH13 | Missense mutation | p.G203R | ||||
MYH8 | Missense mutation | p.R1715H | ||||
KRT26 | Missense mutation | p.R93C | ||||
JMJD6 | Missense mutation | p.R95G | ||||
NOL4 | Missense mutation | p.T119M | ||||
LTBP4 | Missense mutation | p.G283D | ||||
ARHGAP35 | Nonsense mutation | p.S975* | ||||
FAM71E2 | Missense mutation | p.L329M | ||||
22b | Whole-exome seq | CYR61 | Missense mutation | p.C39* | ||
CHML | Missense mutation | p.D210Y | ||||
SCN9A | Missense mutation | p.S1594T | ||||
KALRN | Missense mutation | p.A364T | ||||
COL6A6 | Nonsense mutation | p.R1502H | ||||
PRR14L | Nonsense mutation | p.E658* | ||||
APC | Missense mutation | p.A2T | ||||
HIST1H3G | Missense mutation | p.M448K | ||||
WRN | Missense mutation | p.E226K | ||||
MUC2 | Missense mutation | p.A59E | ||||
KRAS | Missense mutation | p.S286T | ||||
DNASE1L2 | Missense mutation | p.S82F | ||||
NF1 | Missense mutation | p.K1111T | ||||
ZNF208 | Missense mutation | p.V30L | YES | YES |