Table 1

Exome sequencing statistics

SampleGermline mutationNo of reads in bloodNo of reads in infundibulocystic BCCSomatic mutation
Ref.Non-ref.Ref.Non-ref.
MOS100 SUFU c.1093C>T, p.Q365X384714110CN-LOH Chr10:53.4 Mb-135.4Mb*
  • *SUFU spans Chr 10:102 503 987–102 633 535.

  • BCC, basal cell carcinoma; CN-LOH, copy-neutral loss of heterozygosity; non-ref, non-reference reads; ref, reference reads; SUFU, Suppressor of Fused.