Table 3. Breakdown of ASB and ASE SNVs in NA12878.
| Individual | SNVs | Total | Common SNVs (MAF>0.05) | Rare SNVs (MAF≤0.01) | Very rare SNVs (MAF≤0.005) |
|---|---|---|---|---|---|
| ASE | |||||
| NA12878 | HET | 1,888,613 | 1,739,520 | 44,664 | 24,252 |
| ACC | 250,010 | 227,635 | 6,879 | 3,715 | |
| ASE | 10,011 (4%) | 9,370 (4%) | 219 (3%) | 133 (4%) | |
| ASB | |||||
| NA12878 (39 TFs) | HET | 1,888,613 | 1,739,520 | 44,664 | 24,252 |
| ACC | 48,817 | 44,474 | 1,246 | 643 | |
| ASB | 1,156 (2%) | 1,054 (2%) | 26 (2%) | 10 (2%) | |
ACC, accessible; ASB, allele-specific binding; ASE, allele-specific expression; HET, heterozygous; MAF, minor allele frequency; SNV, single nucleotide variant.
This table shows the same HET, ACC and both ASE and ASB SNVs with MAF detected in a single individual, NA12878, who is also part of the trio family. For each of the last 3 columns, each category of HET, ACC and allele-specific SNVs is further stratified by the population MAFs: common (MAF>0.05), rare (MAF≤0.01) and very rare (MAF≤0.005). The number of allele-specific SNVs is given as a percentage of the ACC SNVs.