Table 1 ∣.
Flags applied to de-prioritise variants
| Variant priority (no. of variants) |
At least one non- coding variant |
Common in call-set |
Does not segregate |
In
cis |
No second hit |
|---|---|---|---|---|---|
| Top (122) | NA | NA | NA | NA | NA |
| Middle (262) | 12 | NA | NA | NA | NA |
| Low (72) | 48 | NA | NA | NA | NA |
| Exclude (229) | 73 | 22 | 63 | 71 | 61 |
Variant pairs were deprioritised when at least one variant was non-coding on the MANE transcript, any variant was common in the 100,000 Genomes Project call-set (>5%), the variant(s) did not segregate between affected individuals from the same family, variants were in cis, or when only one heterozygous variant was identified.