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Table 2 Summary of OncoGEMINI truncal filtering of breast metastatic samples

From: OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations

Patient Expected truncal mutations OncoGEMINI truncal
Tool only With filtersa
ER1 3 1,158 27
CDH1 (indel) CDH1 (indel) CDH1 (indel)
PIK3CA (E545K) PIK3CA (E545K) PIK3CA (E545K)
PIK3CA (E726K) PIK3CA (E726K) PIK3CA (E726K)
ER2 3 1,582 50
AKT1 (E17K) AKT1 (E17K) AKT1 (E17K)
ARID1A (W1844X) ARID1A (W1844X) ARID1A (W1844X)
PAX6 (splice)   
ER3 2 1,474 32
SPEN (K1838X)   
TP53 (splice)   
TN1 4 1,930 29
DIDO1 (R2008X) DIDO1 (R2008X) PIK3CA (H1047R)
ITPR1 (R170X) PIK3CA (H1047R) TP53 (T118fs)
PIK3CA (H1047R) TP53 (T118fs)  
TP53 (T118fs)   
  1. aRequires impact_severity ! = ‘LOW’ and the cgi_gene ! = “
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Genome Medicine

ISSN: 1756-994X

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