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Table 2 Output for the TERT promoter mutation in a medulloblastoma sample

From: FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer

Variant GERP Functional annotations Gain of motif Associated gene Network Recurrence in samples Recurrence database Score
chr5: 1295228 -1.46 DHS, Enhancer, TFP (E2F6, EGR1, ELF1, GABPA, HDAC2, MAX, MYC, SIN3A, TCF12, USF1, ZBTB7A, ZEB1) Motif: Ets_known10 TERT (promoter) (Cancer gene) Protein-protein interaction Centrality: 0.798 2/100 Medulloblastoma samples 5/88 Liver samples; 54 COSMIC samples 2.69
GA Position: 1295223 – 1295229
  Strand: +
Score: 1.893 → 5.743