Filtering procedures and statistics for the SNVs and indels called from the exome sequencing data
| Sample ID | NS/SS/indel | LowFreq (MAF<0.01) | Dominant (heterozygous) | Segregating in exomeSeq subjects (IV10+IV11−III6) | Absent in 236 exomeSeq data | In reported linkage regions | Segregating in all family members |
|---|---|---|---|---|---|---|---|
| IV10 | 10893/99/203 | 940/25/62 | 827/18/58 | 233/0/22 | 44/0/7 | 3/0/0 | 1/0/0 (AKAP2:c.2645A>C:p.E882A) |
| IV11 | 10797/97/204 | 930/25/65 | 845/21/59 | ||||
| III6 | 10850/97/181 | 922/23/54 | 840/18/53 |
indel, insertions and deletions; NS, non-synonymous variants; SNVs, single nucleotide variations; SS, splicing variants.