TableĀ 1

Three novel non-synonymous mutations that satisfied the filtering criteria across the 323 variants shared on the X chromosomes between the two half-brothers

Chromosomebp position (hg19)GeneVariant typeVariant infoPhylop+PolyphenCADDGerp++
X109507771AMMECR1nsAMMECR1:NM_015365:exon2:c.G530A:p.G177D0.99890915.7768265.27
X53221984KDM5CnsKDM5C:NM_001146702:exon24:c.G4082A:p.R1361K0.0331.26541
X140994109MAGEC1nsMAGEC1:NM_005462:exon4:c.G919A:p.V307M0.8687890.5126880.157
  • 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.