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 (novela)	18,891 (1,416)
Synonymous (novela)	3,270 (169)
Nonsense (novela)	19 (4)
Missense (novela)	2,718 (414)
Splice-site (novela)	8 (4)
Indels	1,217
dbSNP rateb	92.50%
dbSNP concordanceb	99.68%

Number of variants not found in dbSNP129 and 1000 genomes.

dbSNP rate and concordance are based on dbSNP129.