Table 4 RBM15 mutations

From: MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours

Sample ID

Histopath subtype

Mutation DNA

Mutation AA

DANN a score

CADD b score

22

Borderline

c.583A>T

p.195K>a

0.999

26.3

23

Malignant

c.1924C>T

p.642R>a

0.995

36

24

Borderline

c.715delG

p.239V>fsa1

NA (del)

NA (del)

25

Malignant

c.2344C>T

p.782P>S

0.886

11.13

  1. Abbreviations: NA=not applicable.
  2. aDANN (https://doi.org/10.1093/bioinformatics/btu703) uses a 0–1, scale. Score ⩾0.96 identifies 92% of the true positive pathogenic variations, with 18.1% false positive benign variations.
  3. bCADD (https://doi.org/cadd.gs.washington.edu/). A scaled CADD score of 20 means that a variant is among the top 1% of deleterious variants in the human genome. Scaled CADD score of 30 means that the variant is in the top 0.1%.
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