Table 1.

Criteria for inclusion and exclusion

Input	Inclusion	Exclusion
Individual	Referred by health care provider order for a Color test	Participant in another research study
	Informed consent	>10 missing phenotype data pointsa
	Sample passed internal quality control
Phenotype data	Reported health history via online Color account	Reported event age > current individual age
	Reported age, gender, number of children, number of siblings (unless reported to be adopted)	For numeric data points: An absolute modified Z-score > 5 or above Q3 + 3*IQR or below Q1 − 3*IQR
Genotype data	Sequenced for 30 genes associated with hereditary cancer risk	For variants in SMAD4:b Allele frequency < 0.3
	Read depth ≥ 20If variant sent for secondary confirmation, confirmed presentVariant classification submitted to ClinVar	For variants in genes other than SMAD4: Allele frequency < 0.2 and reference allele or alternate allele length < 10 bpCalled only by Scalpel

^aIf an individual has >10 phenotype data points missing, that individual is excluded from the database.

^b SMAD4 has a common processed pseudogene, which may result in artifacts at lower allele fractions. Q, quartile. IQR, interquartile range.