Table 1.

Study Participants and Sequencing Summary

Characteristics	Median (Range)
Participant characteristics
Age, y	53 (42-85)
Women, No./Total	7/12
Self-reported ethnicity, No./Total
White	5/12
East Asian	7/12
Sequencing coverage and depth
Illumina Inc, No. of patients	12
Haploid coverage depth	50 (38-62)
Genome covered, %	95.0 (94.8-95.6)
Complete Genomics Inc, No. of participants	9
Haploid coverage depth	61 (61-62)
Genome covered, %	96.6 (96.3-96.9)
Single nucleotide variants
All	2 403 504 (2 313 092-2 508 838)
Novel	39 582 (22 861-65 818)
Exonic	15 312 (14 933-16 394)
Stoploss or stopgain	74 (66-82)
Splice disrupting	419 (368-511)
Missense	5447 (5280-5800)
Small insertion/deletion variants
All	583 273 (558 693-676 634)
Novel	31 653 (27 350-73 287)
Exonic	355 (231-389)
Frameshift	91 (63-101)
Structural variants
All	2790 (2220-2900)
Novel	88 (77-123)
Exonic	120 (111-130)