Table 2.
Differences using only ACMG genes are also minimal
| Subset | Total Variants | Ti/Tv Ratio | % Variants in dbSNP | Avg. Population Frequency | % Protein Changing Variants |
|---|---|---|---|---|---|
| All Picard | 34285 | 2.29 | 67.75 | 0.20 | 1.08 |
| All SAMTools | 34412 | 2.29 | 67.51 | 0.20 | 1.08 |
| All No Dups | 34531 | 2.29 | 67.34 | 0.20 | 1.07 |
| P-Value | 0.64 | 1.00 | 0.99 | 1.00 | 1.00 |
| Common to all three | 34000 | 2.31 | 76.37 | 0.20 | 1.09 |
| Unique to Picard | 261 | 1.01 | 19.64 | 0.88 | 0 |
| Unique to SAMTools | 2 | 1.00 | 0 | NA | 0 |
| Unique to No Dups | 115 | 1.54 | 22.33 | 0.04 | 0 |
| Unique to Picard/SAMTools | 9 | 1.50 | 40 | 0.03 | 0 |
| Unique to Picard/No Dups | 15 | 1.00 | 0 | NA | 0 |
| Unique to SAMTools/No Dups | 401 | 0.98 | 15.86 | 0.12 | 0.32 |
| P-Value (comparing Unique rows) | <2.60e-16 | 0.998 | 1.04e-13 | 0.74 | 0.90 |
We performed the same analyses using only the ACMG genes and found similar results