From: OVarFlow: a resource optimized GATK 4 based Open source Variant calling workFlow
Position | Ref/Alt | Gene | Category | Impact | Wu et al |
---|---|---|---|---|---|
53,369,406 | G/A | ASCL4 | Missense variant Non coding transcript variant | Moderate Modifier | ✔ |
53,406,379 | C/G | PWP1 | Missense variant Non coding transcript variant | Moderate Modifier | ✘ |
53,688,583 | C/T | MTERF2 C1H12ORF23 | Stop gained Downstream gene variant Non coding transcript variant | High Modifier Modifier | ✔ causative variant |
54,232,753 | G/A | C12ORF75 | Missense variant | Moderate | ✔ |
54,593,287 | G/A | CHST11 | Missense variant | Moderate | ✘ |
54,764,182 | CT/C | 0 | Frameshift variant Non coding transcript variant | High Modifier | ✘ |