Table 2.
Type | Total variants | Singletons | Multiallelic variants |
---|---|---|---|
All SNVs | 85,721,160 | 21,270,272 | 3,160,393 |
All indels | 10,501,197 | 2,956,760 | 1,875,826 |
Protein-coding SNVs | 790,377 | 222,766 | 23,335 |
Protein-coding indels | 33,823 | 13,227 | 3,663 |
LGD SNVs2 | 20,400 | 6,570 | 1,026 |
LGD indels3 | 26,774 | 10,330 | 3,051 |
SNV and indel protein-coding classifications based on Ensembl Variant Effect Predictor (VEP)
Likely gene disruptive (LGD) SNVs
LGD indels defined as VEP consequences splice_acceptor_variant, splice_donor_variant, stop_gained, stop_lost, start_lost