Fig. 1

Whole-exome sequencing analysis workflow. Boxes represent the analysis/cleaning steps. Cylinders represent the SNV filtering steps used in the data reduction strategy to identify functional somatic mutations. The number of variations remaining after each step is shown in brackets. Note that only SNVs that passed a given filter were tested for in the subsequent step. Using public databases and variant annotation tools, we identified 6 top-ranked mutations among the pre-B cALL patients, including 3 SNVs referenced in COSMIC v71 and 3 candidate rare/private SNVs in ACD (p.G223V), DOT1L (p.V114F) and HCFC1 (p.Y103H) with a potential functional impact