Table 2.
Variants identified from sepsis patients and controls.
| Filter step | SNVs | Greek |
German |
||||
|---|---|---|---|---|---|---|---|
| Sepsis |
Controls |
||||||
| GR (N = 59) | Avga | DE (N = 15) | Avga | DE (N = 93) | Avga | ||
| All | 289,521 | 67,199.8 | 190,671 | 67,499.9 | 278,893 | 67,831.5 | |
| 1 | Protein affecting | 45,261 | 8581.2 | 25,729 | 8513.3 | 48,094 | 8508.6 |
| 2 | Rarebprotein affecting | 17,726 | 302.8d | 4403 | 251.1 | 18,218 | 237.1 |
| Missense | 17,236 | 294.1 | 4303 | 244.3 | 17,627 | 230.0 | |
| Stop and splice | 490 | 8.7 | 100 | 6.9 | 591 | 7.1 | |
| 3 | Rarebdeleterious | 2211 | 40.3d | 477 | 32.9 | 2615 | 33.2 |
| Missense, Damagingc | 1721 | 31.6 | 377 | 26.0 | 2024 | 26.1 | |
| Stop-gain (nonsense) | 322 | 5.8 | 67 | 4.5 | 392 | 4.6 | |
| Stop-loss | 17 | 0.3 | 5 | 0.3 | 9 | 0.1 | |
| Splice-acceptor | 75 | 1.3 | 13 | 1.0 | 87 | 1.1 | |
| Splice-donor | 76 | 1.3 | 15 | 1.0 | 103 | 1.3 | |
a
Average per sample.
b
MAF < 0.005 in ExAC-NFE and ESP-EA.
c
Coincidently predicted to be damaging by PolyPhen, Grantham score and SIFT.
d
Significantly higher for GR vs. DE patients (Wilcoxon rank sum test, p < 0.001).