Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

The HUGO Journal

Official Journal of the Human Genome Organisation

Table 1 Summary of sequencing results from 24 patients

Patient ID	Percentage of reads mapped on human genome	Percentage of reads mapped on the target regions	Median sequencing depth of target bases	10th Percentile sequencing depth of target bases	Target bases with depth ≥1	Target bases with non-redundant depth ≥2, quality score ≥30	No. known SNVs	No. Novel SNVs	No. known indels	No. novel indels	No. non-recurrent novel synonymous variants	No. non-recurrent novel nonsynonymous variants
MPI01	57	14.4	127	22	469,202	457,338	63	3	6	1	0	0
MPI02	71.4	41.6	214	32	471,763	464,524	64	8	7	0	2	2
MPI03	61.1	14.8	105	16	465,435	453,198	56	8	7	2	3	2
MPI04	44.6	12.2	93	12	465,221	455,388	59	6	6	0	2	0
MPI05	57	20.1	162	32	472,442	466,869	49	4	6	1	3	0
MPI06	79.9	49	445	104	475,785	471,906	69	4	6	0	2	0
MPI07	56.4	31.4	303	58	472,659	466,797	61	7	6	2	3	0
MPI08	58.3	17.3	149	29	471,184	464,040	72	6	7	1	2	1
MPI09	62	24.3	200	37	471,129	464,733	43	5	6	0	2	1
MPI10	68.8	39.9	285	82	476,112	472,553	73	7	7	0	2	1
MPI11	66.9	43.9	360	56	471,563	464,788	52	4	6	2	3	1
MPI12	43	27	210	17	459,532	447,392	43	6	6	0	3	0
MPI13	71.5	43.6	390	33	459,696	448,012	61	3	6	0	2	0
MPI14	66.7	33.1	332	24	451,283	432,832	52	5	5	0	3	0
MPI15	67.7	45.2	302	42	463,295	453,557	61	4	7	2	1	2
MPI16	72.1	39.8	261	37	462,978	452,147	62	5	6	2	2	2
MPI17	82.2	57.4	356	62	468,230	460,292	74	7	9	1	3	0
MPI18	69.5	45.5	359	29	452,294	436,990	43	6	4	0	2	1
MPI19	74.3	42.3	325	30	456,327	441,255	58	6	6	1	5	0
MPI20	53.9	18.4	145	16	462,203	449,531	58	3	5	0	1	0
MPI21	64.7	33.4	268	56	475,372	470,751	42	5	7	0	3	0
MPI22	53.4	22.3	92	8	449,473	418,304	54	2	5	0	0	1
MPI23	65.9	23.6	221	52	475,621	471,114	62	4	8	0	1	0
MPI24	71.7	35.3	276	76	475,502	471,623	57	4	7	1	1	2