Table 1.
Next-generation sequencing MSK-IMPACT.
| Tissue | TMB | MSI score | Gene | Type | Alteration | Location |
|---|---|---|---|---|---|---|
| Melanoma (726X depth coverage) | 30.33 | 0.93 | NRAS | Missense | Q61L (c.182A>T) | Exon 3 |
| RAC1 | P29S (c.85C>T) | Exon 2 | ||||
| APC | E190K (c.568G>A) | Exon 6 | ||||
| ATRX | E1917K (c.5749G>A) | Exon 24 | ||||
| BARD1 | S541L (c.1622C>T) | Exion 7 | ||||
| BRD4 | V1089I (c.3265G>A) | Exon 15 | ||||
| CBL | I423N (c.1268T>A) | Exon 9 | ||||
| CDKN2A | P94L (c.281C>T) | Exon 2 | ||||
| CIC | S649F (c.1946C>T) | Exon 10 | ||||
| CIC | A650V (c.1949_1950delinsTT) | Exon 10 | ||||
| DAXX | L336S (c.1007T>C) | Exon 3 | ||||
| FLT4 | F1357L (c.4071C>A) | Exon 30 | ||||
| GLI1 | P879H (c.2636C>A) | Exon 12 | ||||
| GRIN2A | P1132L (c.3395C>T) | Exon 13 | ||||
| HLA-B | H221Y (c.661C>T) | Exon 4 | ||||
| IGF1 | G164R (c.490G>A) | Exon 4 | ||||
| KMT2B | P2258S (c.6772C>T) | Exon 28 | ||||
| MST1R | G591D (c.1772G>A) | Exon 5 | ||||
| PARK2 | P343S (c. 1027C>T) | Exon 9 | ||||
| PBRM1 | L254P (c.761T>C) | Exon 8 | ||||
| PDGFRA | A4978V (c. 1493C>T) | Exon 10 | ||||
| RBM10 | R111C (c.331C>T) | Exon 3 | ||||
| ROS1 | E1993K (c.5977G>A) | Exon 37 | ||||
| SYK | M392I (c.1176G>A) | Exon 9 | ||||
| TEK | L415F (c.1243C>T) | Exon 9 | ||||
| TP63 | R37Q (c.110G>A) | Exon 2 | ||||
| TEK | Non sense | W1004 (c.3011G>A) | Exon 19 | |||
| PBRM1 | Nonsense | R710 (c.2128C>T) | Exon 17 | |||
| TERT | Non-Coding | g.1295242_1295243delinsTT | Promoter | |||
| ARID5B | Frameshift Deletion | I497 (c.1481dupA) | Exon 10 | |||
| CDKN2A | Nonsense Mutation | R80 (c.238C>T) | Exon 2 | |||
| NCOR1 | Nonsense Mutation | Y266 (c.798T>A) | Exon 8 | |||
| SPOP | Nonstop Mutation | *375Qext*25 (c.1123T>C) | Exon 10 | |||
| ATRX | Splicing Mutation | c.6218-3C>T | Exon 8 | |||
| PPP2R1A | Splicing Mutation | X218splice (c.6521_652delinsAA) | Exon 6 | |||
| Carcinoid lung (860X depth coverage) | 0 | 0.25 | ARID1B | Intragenic | Deletion | Exons 5-6 |
| Breast (472X depth coverage) | 1.64 | 0.08 | PIK3CA | Missense | H1047R (c.3140A>G) | Exon 21 |
| KIT | Splicing Mutation | X829_Splice (c.2485-2A>T) | Exon 18 | |||
| MAPK3, NTHL1, TRAF7 | Whole gene | Amplification | 16p11.2 |
MSK-IMPACT, Memorial Sloan Kettering Cancer Center-Integrated Mutation Profiling of Actionable Cancer Targets; TMB, tumor mutational burden; MSI, microsatellite instability.