Table 4. Validated mutations in WGS retinoblastoma data.
Sample | tierl1 | tier2 | tier3 | Total | Indels | SVs | CNV-AMP | CNV-Mb-AMP | CNV-DEL | CNV-Mb-DEL | Total-CNV-Mb |
---|---|---|---|---|---|---|---|---|---|---|---|
SJRB011 | 4(2) | 12 | 72 | 88 | 0 | 24 | 6 | 72.52 | 7 | 146.24 | 218.77 |
SJRB014 | 0 | 2 | 23 | 25 | 0 | 11 | 3 | 218.39 | 6 | 5.42 | 223.82 |
SJRB016 | 0 | 0 | 2 | 2 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
SJRB020 | 0 | 6 | 45 | 51 | 0 | 3 | 5 | 136.31 | 2 | 243.93 | 380.25 |
SJRB024 | 3(0) | 8 | 73 | 84 | 1 | 28 | 38 | 903.47 | 0 | 0 | 903.47 |
SJRB031 | 32(15) | 59 | 467 | 558 | 0 | 74 | 100 | 2840.21 | 13 | 0.49 | 2840.70 |
SJRB032 | 12(5) | 17 | 171 | 200 | 0 | 17 | 46 | 2787.49 | 0 | 0 | 2787.49 |
SJRB035 | 0 | 1 | 22 | 23 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
SJRB039 | 7(2) | 12 | 94 | 113 | 0 | 96 | 48 | 227.68 | 75 | 117.54 | 345.23 |
SJRB051 | 2(1) | 5 | 50 | 57 | 0 | 52 | 5 | 250.60 | 31 | 11.19 | 261.79 |
Tier 1 mutations include all mutations in genes including silent mutations and mutations in the 5′ and 3′ UTRs. The number of nonsynonymous mutations that alter the coding sequence are shown in parentheses.