Table 5.
Hotspot mutation detection.
| Patient | Gene | AA change | AD AN (AF)a | AD TM (AF)b | LVJ | ANR | CHLc | Cosmic count |
|---|---|---|---|---|---|---|---|---|
| BHH01 | PIK3CA | H1047R | 473,9 (0.02) | 378,201 (0.35) | Yes | LQCd | 3 | 1,806 |
| HHP13 | PIK3CA | E545K | 332,0 (0) | 195,11 (0.05) | No | Yes | 3 | 332 |
| BHH06 | AKT1 | E17K | 121,23 (0.16) | 151,62 (0.29) | Yes | No | 3 | 295 |
| BHH24 | AKT1 | E17K | 123,1 (0.01) | 118,60 (0.34) | Yes | Yes | 3 | 295 |
| BHH28 | PIK3CA | H1047L | 417,0 (0) | 348,81 (0.19) | Yes | Yes | 3 | 262 |
| HHP19 | TP53 | G245S | 186,1 (0.01) | 61,76 (0.55) | Yes | Yes | 3 | 81 |
| BHH18 | PIK3CA | Q546E | 201,16 (0.07) | 164,38 (0.19) | Yes | No | 3 | 3 |
| BHH18 | PIK3CA | G106R | 127,8 (0.06) | 96,19 (0.17) | Yes | No | 3 | 2 |
| BHH25 | PIK3CA | E726K | 269,0 (0) | 268,17 (0.06) | No | Yes | 2 | 31 |
| BHH25 | SF3B1 | K666E | 210,0 (0) | 122,46 (0.27) | Yes | Yes | 2 | 19 |
a
Allelic depth of reads supporting the reference, alternate alleles in the adjacent normal sample.
b
Tumor sample.
c
Cancer hotspots database validation level (Cancer Hotspots).
d
Called by one of three paired somatic variant callers (strelka).