Table 2.
Summary of identified single nucleotide variants and insertions/deletions
| Variant type | No. of variants |
|---|---|
| SNV | 21,316,754 |
| Intergenic | 12,722,683 |
| Intragenic | 8,347,223 |
| Downstream | 124,895 |
| Upstream | 121,953 |
| Splicing site | 1198 |
| 5′ UTR | 44,897 |
| 3′ UTR | 198,836 |
| Intron | 7,892,061 |
| Coding domain | 210,231 |
| Synonymous | 144,815 |
| Non-synonymous | 64,671 |
| InDel | 5,067,206 |
| Intergenic | 3,014,421 |
| Intragenic | 1,989,666 |
| Downstream | 32,210 |
| Upstream | 30,909 |
| Splicing site | 3840 |
| 5′ UTR | 10,002 |
| 3′ UTR | 50,007 |
| Intron | 1,912,051 |
| Coding domain | 13,766 |
| Frameshift deletion | 3,855 |
| Frameshift insertion | 6,447 |
| Non-frameshift deletion | 1,520 |
| Non-frameshift insertion | 1,641 |
SNVs, single nucleotide variants; InDels, insertions/deletions; UTR, untranslated region.