Table 1.
Exome-Variant Filtration Steps and Results of Initial Cohort
| Family 60 | Family 89 | Family 10 | Family 9 | Family 28 | Family 94 | |
|---|---|---|---|---|---|---|
| QC Filtration Steps | ||||||
| A: variants in at least one affected family | 33,061 | 38,609 | 37,706 | 31,975 | 33,090 | 32,727 |
| B: functional variants | 18,455 | 21,857 | 21,255 | 17,602 | 18,417 | 18,118 |
| C: FC-specific variants | 1,489 | 2,041 | 1,797 | 825 | 1,089 | 882 |
| D: variants after exclusion of most variable exonic genes | 999 | 1,388 | 1,157 | 595 | 670 | 627 |
| E: variants in fewer than five samples from in-house database | 403 | 581 | 509 | 309 | 360 | 294 |
| F: variants in at least two affected families | 178 | 258 | 226 | 50 | 236 | 201 |
| G: deleterious variantsa (genes) | 79 (78) | 109 (108) | 103 (102) | 15 (15) | 99 (90) | 67 (64) |
| H: genes with cross-family recurrent variants (variants) | 6 (6) | 7 (7) | 6 (6) | 2 (2) | 8 (9) | 11 (13) |
| Results of Initial Cohort for All Six Families | ||||||
| Genes with cross-family recurrent variants (variants) | 19 (35) | |||||
| Genes with different variants | 11 | |||||
| Genes with at least two different variants | 1 (RNF213)b | |||||
a
PP2 > 0.8 or GERP > 2 and frameshift.
b
p = 0.01 (VT test) after Bonferroni correction (5,000 permutations).