Performance Characterization and Validation of Saliva as an Alternative Specimen Source for Detecting Hereditary Breast Cancer Mutations by Next Generation Sequencing

Table 5

Variant Caller data from saliva and from corresponding blood sample for sample IDs 1601074005 and 1601074006.

1601074005Saliva		1601074005Blood		1601074005Blood reference lab		1601074006Saliva		1601074006Blood		1601074006Blood reference lab
Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity
c.-26G>A	Hetero	c.-26G>A	Hetero	—	—	—	Hetero	c.-26G>A	Hetero	—	—
c.3396A>G	Hetero	c.3396A>G	Hetero	c.3396A>G	Hetero	c.681+56C>T	Hetero	c.681+56C>T	Hetero	—	—
c.4563A>G	Homo	c.4563A>G	Homo	c.4563A>G	Homo	c.1910-74T>C	Hetero	c.1910-74T>C	Hetero	—	—
c.6513G>C	Homo	c.6513G>C	Homo	c.6513G>C	Homo	c.3396A>G	Hetero	c.3396A>G	Hetero	c.3396A>G	Hetero
c.7242A>G	Hetero	c.7242A>G	Hetero	c.7242A>G	Hetero	c.4563A>G	Homo	c.4563A>G	Homo	c.4563A>G	Homo
c.7397C>T	Homo	c.7397C>T	Homo	c.7397C>T	Homo	c.6513G>C	Homo	c.6513G>C	Homo	c.6513G>C	Homo
c.7806-14T>C	Hetero	c.7806-14T>C	Hetero	c.7806-14T>C	Hetero	c.7397C>T	Homo	c.7397C>T	Homo	c.7397C>T	Homo
c.8487+19A>G	Hetero	c.8487+19A>G	Hetero	c.8487+19A>G	Hetero	c.7806-14T>C	Hetero	c.7806-14T>C	Hetero	c.7806-14T>C	Hetero
c.8755-66T>C	Hetero	c.8755-66T>C	Hetero	—	—	c.8755-66T>C	Hetero	c.8755-66T>C	Hetero	—	—
c.36C>G	Hetero	c.36C>G	Hetero	—	—	c.4837A>G	Hetero	c.4837A>G	Hetero	c.4837A>G	Hetero
c.4837A>G	Homo	c.4837A>G	Homo	c.4837A>G	Homo	c.4308T>C	Hetero	c.4308T>C	Hetero	c.4308T>C	Hetero
c.4308T>C	Hetero	c.4308T>C	Hetero	c.4308T>C	Hetero	c.3548A>G	Hetero	c.3548A>G	Hetero	c.3548A>G	Hetero
c.3548A>G	Homo	c.3548A>G	Homo	c.3548A>G	Homo	c.3113A>G	Hetero	c.3113A>G	Hetero	c.3113A>G	Hetero
c.3113A>G	Hetero	c.3113A>G	Hetero	c.3113A>G	Hetero	—	—	c.2612C>T	Hetero	c.2612C>T	Hetero
c.2612C>T	Homo	c.2612C>T	Homo	c.2612C>T	Homo	c.2311T>C	Hetero	c.2311T>C	Hetero	c.2311T>C	Hetero
c.2458A>G	Hetero	c.2458A>G	Hetero	c.2458A>G	Hetero	c.2082C>T	Hetero	c.2082C>T	Hetero	c.2082C>T	Hetero
c.2311T>C	Hetero	c.2311T>C	Hetero	c.2311T>C	Hetero	c.81-12delC	Homo	—	—
c.2082C>T	Homo	c.2082C>T	Homo	c.2082C>T	Homo
c.441+17T>C	Hetero	c.441+17T>C	Hetero	c.441+17T>C	Hetero
c.212+23T>A	Hetero	c.212+23T>A	Hetero	—	—