Chromosome | bp position (hg19) | Gene | Variant type | Variant info | Phylop+ | Polyphen | CADD | Gerp++ |
---|---|---|---|---|---|---|---|---|
X | 109507771 | AMMECR1 | ns | AMMECR1:NM_015365:exon2:c.G530A:p.G177D | 0.998909 | 1 | 5.776826 | 5.27 |
X | 53221984 | KDM5C | ns | KDM5C:NM_001146702:exon24:c.G4082A:p.R1361K | 0.033 | 1.26541 | ||
X | 140994109 | MAGEC1 | ns | MAGEC1:NM_005462:exon4:c.G919A:p.V307M | 0.868789 | 0.512688 | 0.157 |
A total of 18 049 variants were shared between the half-siblings. The filtering strategy applied was limited to shared variants on the X chromosome only (323 annotated). 318 variants were removed due to their occurrence within the Southampton control cohort of exomes (n=156) regardless of annotated zygosity. Of the five remaining variants, one was removed due to its synonymous annotation, and another was disregarded due to its low MaxEnt splicing score (<3). Three novel (absent from ExAC server, dbSNP and the Southampton in-house control database) non-synonymous variants satisfied the full filtering criteria. Ns, non-synonymous; sp, splicing.