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. Author manuscript; available in PMC: 2016 Nov 1.
Published in final edited form as: JAMA Oncol. 2015 Nov;1(8):1128–1132. doi: 10.1001/jamaoncol.2015.1618

Table 2.

Prioritized mutations from next generation sequencing of STICs and synchronous gynecologic malignancies

Patient Site Gene Exonic Function Location Nucleotide Amino Acid Variant Allele Frequency Coverage at Variant Allele
1 Tube BRCA2 frameshift deletion chr13:32914209 c.5718_5719del p.1906_1907del 72% 137
Tube TP53 stopgain SNV chr17:7578263 c.C190T p.R64X 48% 85

Ovary BRCA2 stopgain SNV chr13:32972626 c.A9976T p.K3326X 50% 87
Ovary BRCA2 frameshift deletion chr13:32914209 c.5718_5719del p.1906_1907del 54% 122
Ovary TP53 stopgain SNV chr17:7578263 c.C190T p.R64X 11% 8

2 Tube BRCA1 stopgain SNV chr17:41244787 c.C2620T p.Q874X 52% 464
Tube TP53 nonsynon. SNV chr17:7577580 c.A305G p.Y102C 10% 118

Ovary TP53 nonsynon. SNV chr17:7577580 c.A305G p.Y102C 69% 225
Ovary BRCA1 stopgain SNV chr17:41244787 c.C2620T p.Q874X 88% 351

3 Tube TP53 nonsynon. SNV chr17:7577535 c.G350C p.R117T 15% 90

Uterus MTOR nonsynon. SNV chr1:11184573 c.C6644A p.S2215Y 18% 36
Uterus PTEN nonsynon. SNV chr10:89685308 c.A203T p.Y68F 15% 41
Uterus KRAS nonsynon. SNV chr12:25398284 c.G35T p.G12V 20% 81
Uterus PIK3CA nonsynon. SNV chr3:178916876 c.G263A p.R88Q 21% 85
Uterus ATM nonsynon. SNV chr11:108142000 c.C2944T p.R982C 20% 81

4 Tube TP53 nonsynon. SNV chr17:7577548 c.G337C p.G113R 12% 60
Tube PTEN stopgain SNV chr10:89692904 c.C388T p.R130X 18% 36
Tube CTNNB1 nonsynon. SNV chr3:41266137 c.C134T p.S45F 14% 151

Uterus PTEN stopgain SNV chr10:89692904 c.C388T p.R130X 34% 73
Uterus CTNNB1 nonsynon. SNV chr3:41266136 c.T133C p.S45P 33% 133

nonsynon. SNV = nonsynonmous single nucleotide variant.