Sample ID | NS/SS/InDel | LowFreq (MAF<0.01) | Dominant (Heterozygous) | Absent in our 50 exomeSeq data | Segregating in exomeSeq subjects | In linkage regions | Segregating in all family members |
---|---|---|---|---|---|---|---|
M16346 | 8692/77/313 | 630/26/291 | 622/21/202 | 437/8/46 | 72/2/6 | 3/1/0 | 1/0/0 (SLC39A5:c.C141G:p.Y47X) |
M16350 | 8300/69/309 | 549/19/293 | 540/14/195 | 385/3/39 |
InDel, insertions and deletions; LowFreq represents low allele frequency (MAF<0.01) both in 1000g2012Aril and ESP6500NS, non-synonymous variants; SNV, single nucleotide variant; SS, splicing variants.