. 2014 Jul 10;4:5616. doi: 10.1038/srep05616

Table 2. Summary of SNPs for exome captured samples and filter procedure.

Categories	III-10^*	II-3	IV-1	III-14 (control)
Exome Capture Statistics
Target region (bp)⁽¹⁾	62085286	61988644	62085286	62085286
Raw reads	92737976	138497858	145426084	139851618
Raw data yield (Mb)	9465	11149	11707	11258
Reads mapped to genome	93894979	140334153	147846058	142256214
Reads mapped to target region⁽²⁾	53479844	82582631	87924642	82990685
Data mapped to target region (Mb)	3677.14	5658.73	6019.33	5690.76
Coverage of target region (%)	95.68	95.93	95.69	95.84
Average read length (bp)	80.5	80.5	80.51	80.5
Fraction of target covered > = 10X (%)	93.27	94.02	93.93	93.96
Fraction of target covered > = 20X (%)	89.6	91.86	91.83	91.76
Fraction of target covered > = 30X (%)	81.92	88.12	88.16	87.88
SNPs for exome capture
No. high-confidence genotypes	115744429	115676179	113537889	114980456
Total number of SNPs	85738	91309	89061	89972
Missense	11032	11352	11127	11269
Nonsense	127	144	143	143
Splice site⁽³⁾	2498	2675	2651	2682
Synonymous-coding	9600	9934	9792	9894
Hom	36615	37234	37483	37668
Het	49123	54075	51578	52304
Novel variants
Number not in dbSNP	1287	1373	1358	1241
Number not in 1000 Genome and YH	765	787	779	755
Missense	624	631	632	610
Nonsense	15	21	23	19
Splice site	126	135	124	126
No. of genes presented in 3 affected patients but not in the normal family member III-14				32
Top-ranked detrimental effect of variants by three distinct programs (Polyphen2, SIFT and MutationTaster)				15
No. of validated variants co-segregating with affected members				1

*Index patient.

(1)Target regions refer to the regions that are actually covered by the designed probes.

(2)Reads mapped to target regions are reads that within or overlap with target region.

(3)Intronic SNPs within 10 bp of exon/intron boundary.