Table I. Summary statistics for exome... | Rockefeller University Press

Table I.

Summary statistics for exome sequencing

Reads/variants	No.
Total number of reads	30,054,578
Uniquely mapped reads	13,267,598
Total variants called	20,108
Substitutions
Total (novel^a)	18,891 (1,416)
Synonymous (novel^a)	3,270 (169)
Nonsense (novel^a)	19 (4)
Missense (novel^a)	2,718 (414)
Splice-site (novel^a)	8 (4)
Indels	1,217
dbSNP rate^b	92.50%
dbSNP concordance^b	99.68%

Reads/variants	No.
Total number of reads	30,054,578
Uniquely mapped reads	13,267,598
Total variants called	20,108
Substitutions
Total (novel^a)	18,891 (1,416)
Synonymous (novel^a)	3,270 (169)
Nonsense (novel^a)	19 (4)
Missense (novel^a)	2,718 (414)
Splice-site (novel^a)	8 (4)
Indels	1,217
dbSNP rate^b	92.50%
dbSNP concordance^b	99.68%

Number of variants not found in dbSNP129 and 1000 genomes.

dbSNP rate and concordance are based on dbSNP129.