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Summary of variants observed in the Cohort. Germline and somatic RB1 SCNAs and SNVs, and other RB-signature genetic variants are displayed. Germline variants detected in blood (separate clinical diagnostic test), AH, and tumor for cases 1, 9, and 13. Cases 33-dx and 33-es were merged; they have the same RB1 somatic SNV detected at diagnosis and enucleation. Variants depicted are found in both targeted and tumor samples.
