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. 2018 Apr;4(2):a002378. doi: 10.1101/mcs.a002378

Table 1.

Variants detected by next-generation sequencing analysis of tumor tissue

Gene Chromosome Position Variant type Predicted effect
FGFR1 8p11.23 Exons 10–18 Duplication Pathogenic
ARID1A 1p36.11 p.P21_S22INSPP Insertion/deletion VUS
ARID1B 6q25.3 p.C251G Missense mutation VUS
CHEK2 22q12.1 p.T367fs*15 Frameshift mutation VUS
EPHA5 4q13.2 p.D348G Missense mutation VUS
MLL2 12q13.12 p.E5292D Missense mutation VUS

VUS, variant of unknown significance.