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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

G → A

Position: 1295223 – 1295229

 

Strand: +

Score: 1.893 → 5.743