Table 2.
Alterations in Epigenetic Modifiers Identified in Pre/Posttreatment Samples
| Patient ID | Gene | Alteration | Pretreatment MAF | Posttreatment MAF Fold Change | Alteration Type |
|---|---|---|---|---|---|
| SR01 | ARID1A | p.E2032K (c.G6094A) | 6.68% | 1.19 | Missense |
| ARID1A | p.E2224Q (c.G6670C) | 8.33% | 1.04 | Missense | |
| ARID1A | p.V2263 L (c.G6787C) | 5.04% | 1.56 | Missense | |
| ARID1A | p.D2038N (c.G6112A) | 8.09% | 0.96 | Missense | |
| ARID1A | p.E1964K (c.G5890A) | 5.20% | 1.23 | Missense | |
| ARID1A | p.L2281F (c.G6843C) | 3.91% | 2.01 | Missense | |
| ARID1A | ARID1A-MTOR | 1.00% | 2.08 | Fusion | |
| SR02 | KMT2B | p.L2335I (c.C7003A) | 44.40% | 0.72 | Missense |
| KMT2B | p.S2135X (c.C6404G) | 40.06% | 0.72 | Stop gained | |
| SR03 | KMT2B | KMT2B:exon2-ZNF254&LINC00662 | 5.63% | 0.28 | Fusion |
| SR04 | TET2 | p.V1064 fs (c.3191_3197delTTTTGAC) | 4.31% | 1.19 | Frameshift |
| DAXX | p.P540fs (c.1618_1637delCCCTCCAGCATAGATGCTGA) | 2.43% | 1.47 | Frameshift | |
| DAXX | p.S564F (c.C1691T) | 4.88% | 1.22 | Missense | |
| ARID1A | p.Q1519X (c.C4555T) | 13.25% | 0.77 | Stop gained | |
| SETD2 | p.E2528K (c.G7582A) | 7.37% | 0.69 | Missense | |
| SR08 | EP300 | p.M2278 V (c.A6832G) | 5.59% | N/A | Missense |
| KMT2B | p.G2286 V (c.G6857 T) | 7.09% | N/A | Missense | |
| LR08 | BRD4 | p.D650N (c.G1948A) | 6.63% | N/A | Missense |
| SETD2 | p.L483R (c.T1448G) | 22.01% | N/A | Missense | |
| KMT2A | c.G503-1A | 7.11% | N/A | Splicing variant | |
| CREBBP | p.L151 V (c.C451G) | 2.53% | N/A | Missense | |
| ARID1A | p.Y311N (c.T931A) | 5.24% | N/A | Missense | |
| LR09 | ARID1A | p.312_322del (c.936_965delCGGGGGCGACTACAGTGGCGGGCCCCAGGA) | 4.72% | N/A | In frame deletion |