SPTLC1 and neoplasm: To gain further insights into the pathogenesis of SpTs, we sequenced the whole-genomes of four fresh frozen (FF) tumor-matched normal (blood or tissue adjacent to the tumor) pairs (SpT1, SpT4, SpT6, SpT8) sampled from individuals aged 44–60 years and a FF tumor singleton (SpT3, from a man aged 66 years), all of which had previously tested mutation-negative in our targeted resequencing screen [22,23] (Fig 1 and S1 Table).