Fig. 4: Matrix showing clinical information, assay type, and cohesin mutations across MPeM and MCM cases.

The pink/red hashed cell represents a somatic mutation that was present when visualising the exome data using the IGV software, but was not called by the variant calling software due to low variant allele frequency. *represents a patient that has died without recurrence. For the exome and amplicon genetic observations across STAG3, SMC1A and SMC3 genes, the darker shade indicates presence of a mutation and the lighter shade indicates no mutation was identified. Blank/white cells indicate the patient’s tumour sample was not tested.