Table 2.

Inconsistent germline and somatic BRCA1/2 variations

	Germline BRCA mutation				Somatic BRCA mutation
		AA variation	Sequence variation	Mutation type		AA variation	Sequence variation	Mutation type	VAF
Replace #1	BRCA2	p.S93Ifs*8	c.276dupA	Frameshift	BRCA1	p.K654Sfs*47	c.1961delA	Frameshift	2.11
					BRCA2	p.I605Yfs*9	c.1806delA	Frameshift	24.65
Replace #2	BRCA1	p.W1815*	c.5445G > A	Nonsense	BRCA1	p.W1836*	c.5508G > A	Nonsense	54.33
Reversion #1	BRCA1	p.S308*fs	c.922_924delAGCinsT	Frameshift	–
Reversion #2	BRCA1		c.5467 + 1G > A	Intervening sequence	–
Reversion #3	BRCA1		c.212 + 1G > T	Intervening sequence	–
Acquired #1	–				BRCA2	p.E1299V	c.3896A > T	Missense	5.54
Acquired #2	–				BRCA1	p.5308Tfs*6	c.923delG	Frameshift	54.73
Acquired #3	–				BRCA1	p.F1177Cfs*7	c.3530_3540del	Frameshift	27.84
Acquired #4	–				BRCA1	p.K1183R	c.3548A > G	Missense	23.74
Acquired #5	–				BRCA1	p.K654Sfs’47	c.1961delA	Frameshift	2.11
					BRCA2	p.I605Yfs’9	c.1806delA	Frameshift	24.77
Acquired #6	–				BRCA2	p.I605Nfs’11	c.1805_1805insA	Frameshift	2.34
Acquired #7	–				BRCA1	p.T499Kfs*4	c.1496delC	Frameshift	40.87

AA amino acid, VAF variant allele frequency, VOUS variants of uncertain significance