2009). The sequence coverage in our study is comparable to previous reports detecting heterozygous mutations in known IPN genes using WES (Hedges et al. 2009; Montenegro et al. 2011). The coverage of the target genes for the 112 samples is shown in supplementary Figure S1 panel A–D. Furthermore, blind analysis of the exome data for the two positive controls correctly identified the respective mutations, PMP22 c.392C>G and MPZ c.371C>T (read depth 41.6X and 46.7X respectively). The gene discussed is PMP22; the disease is bile duct papillary neoplasm.