Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

Lim, Eileen C. P.; Brett, Maggie; Lai, Angeline H. M.; Lee, Siew-Peng; Tan, Ee-Shien; Jamuar, Saumya S.; Ng, Ivy S. L.; Tan, Ene-Choo

doi:10.1186/s40246-015-0055-x

Human Genomics

Table 2 Mean coverage with highest and lowest number of reads for target regions for each gene

From: Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

	Gene	Mean	Lowest	Highest
1	ABCC8	338.07	81.92	786.09
2	ABCD1	169.66	12.56	411.39
3	ACSL4 ^a	164.77	21.30	492.11
4	AFF2	214.46	36.76	580.05
5	ALX4	222.07	84.73	558.92
6	AP1S2 ^a	135.94	38.59	325.08
7	APC ^a	179.90	3.73	406.62
8	AR	223.99	43.85	529.40
9	ATP7A ^a	178.46	15.96	431.28
10	ATRX	158.16	10.57	441.01
11	AVPR2	212.24	91.24	401.30
12	BMP4 ^a	277.08	184.26	355.73
13	BMPR1A ^a	249.32	92.33	500.82
14	BMPR2	221.72	39.06	545.08
15	BRCA2 ^a	226.44	69.62	659.97
16	BRWD3	158.01	1.94	403.65
17	BSND	281.21	166.64	426.50
18	BTK ^a	248.63	71.65	522.36
19	CACNA1C	313.63	70.18	681.23
20	CASK	174.65	3.07	469.39
21	CDKN1C ^a	61.17	21.98	111.66
22	CFC1	0.00	0.00	0.06
23	CHD7 ^a	238.95	6.00	491.12
24	CHD8 ^a	241.14	3.17	571.36
25	CHM	138.15	0.00	424.06
26	CHRNA7	133.17	0.00	649.69
27	CLCNKA ^a	207.37	41.54	632.50
28	CLCNKB ^a	227.42	19.10	558.00
29	CNTN4 ^a	258.10	74.48	742.09
30	COL2A1	311.23	28.83	762.32
31	COL4A5	145.99	6.30	492.06
32	CREBBP	307.73	66.01	682.75
33	CUL4B ^a	148.17	35.09	399.12
34	CYP21A2	42.13	0.00	317.76
35	DCX	191.11	31.11	424.96
36	DHCR7 ^a	356.18	73.73	715.42
37	DMRT1	317.71	99.58	526.08
38	DYM ^a	199.54	35.51	538.64
39	DYRK1A	238.22	56.46	539.50
40	EDNRB ^a	244.22	108.94	440.60
41	EHMT1	322.86	0.00	914.42
42	EMX2	191.49	89.92	367.85
43	EXT1	255.03	122.82	531.24
44	EXT2	268.11	55.88	603.23
45	EYA1	259.46	9.39	471.54
46	F8	208.53	0.00	590.76
47	F9	194.99	29.24	362.11
48	FANCA	305.66	17.51	898.72
49	FANCB ^a	115.90	28.51	270.95
50	FBN1 ^a	275.76	42.56	611.18
51	FGD1	232.34	56.74	586.70
52	FGFR1 ^a	313.99	118.45	666.21
53	FLNA ^a	243.40	56.48	688.98
54	FMR1	156.86	48.89	329.36
55	FOXC1	93.65	76.19	114.03
56	FOXG1	96.79	77.95	125.85
57	FOXL2	93.73	75.81	114.31
58	FZD4	211.12	93.71	360.16
59	GATA3 ^a	324.33	155.81	637.81
60	GATA4 ^a	295.62	50.09	587.59
61	GDF5	155.05	113.49	212.75
62	GJB2 ^a	249.56	200.76	298.70
63	GLA	214.53	82.27	473.23
64	GLI2	312.00	149.69	577.16
65	GLI3 ^a	286.99	108.72	560.08
66	GPC3	216.44	42.47	424.44
67	GPC6	251.39	134.79	392.07
68	GPR56 ^a	294.55	71.00	606.66
69	GRIA3	204.51	69.61	433.75
70	HBA1	50.15	0.00	182.69
71	HBA2	10.42	0.00	40.79
72	HCCS ^a	177.03	62.86	347.20
73	HNF1B	321.62	59.22	722.67
74	HOXD13	278.61	105.47	524.08
75	HPRT1	151.03	46.04	318.21
76	IDS	183.74	4.69	498.62
77	IKBKG	51.43	0.00	348.87
78	IRF6 ^a	265.75	126.04	468.45
79	JAG1	308.99	57.19	644.27
80	KAL1	196.43	33.50	435.56
81	KCNJ1	341.18	200.92	557.14
82	KCNQ1	321.89	62.66	842.39
83	L1CAM ^a	238.10	33.83	531.65
84	LAMP2	161.71	16.59	374.76
85	LEMD3	162.74	55.42	325.70
86	LHX4	340.77	146.93	643.51
87	LMX1B	165.54	66.47	408.35
88	MECP2	116.40	21.60	224.22
89	MID1 ^a	188.60	44.28	383.24
90	MITF	303.77	97.21	559.04
91	MSX1	148.47	85.95	232.61
92	MSX2	147.01	93.77	230.81
93	MTM1 ^a	197.51	54.42	517.75
94	MYCN ^a	228.84	96.40	407.08
95	NDP ^a	237.17	92.91	444.75
96	NDUFV1	299.67	104.88	555.45
97	NF2	368.03	144.63	794.05
98	NHS	189.40	24.18	373.29
99	NIPBL ^a	172.28	15.79	382.14
100	NLGN4X ^a	251.27	119.13	470.66
101	NOTCH2	281.99	0.00	642.59
102	NR5A1 ^a	222.01	116.84	407.74
103	NRXN1 ^a	225.80	21.56	577.97
104	NSD1 ^a	261.44	86.24	500.38
105	OCA2 ^a	321.02	106.42	685.92
106	OCRL	178.97	13.16	440.97
107	OFD1	171.17	58.00	394.13
108	OTC	190.78	1.46	562.10
109	OTX2	311.41	198.51	476.69
110	PAFAH1B1 ^a	234.58	15.99	516.41
111	PAK3	181.03	47.33	405.32
112	PAX3	235.81	80.62	569.70
113	PAX6 ^a	242.37	25.79	599.28
114	PAX9 ^a	258.47	7.00	540.15
115	PGK1	252.23	95.17	614.74
116	PHEX	200.00	48.82	439.78
117	PHF6 ^a	165.22	63.07	315.44
118	PIGB	205.86	19.26	539.76
119	PITX2 ^a	283.28	122.96	548.91
120	PKD1	99.18	0.00	512.88
121	PKD2	225.02	47.45	475.99
122	PLP1	247.34	9.76	525.11
123	PREPL ^a	215.09	36.12	484.89
124	PRPS1	247.30	102.55	418.52
125	PTCH1	270.35	12.72	733.37
126	PTEN	150.42	22.31	371.28
127	PTPN11	267.28	7.24	610.72
128	RAI1 ^a	343.75	101.17	648.66
129	RB1	131.02	14.38	388.44
130	RET	271.31	71.71	635.08
131	RPS19 ^a	321.73	108.91	519.38
132	RS1	222.95	115.25	327.74
133	RUNX2 ^a	273.57	111.60	506.80
134	SALL1 ^a	358.75	261.01	497.61
135	SALL4	275.10	113.08	406.79
136	SATB2 ^a	308.41	180.72	485.31
137	SCN1A	184.22	17.84	385.17
138	SGCE	176.87	0.23	424.34
139	SH2D1A	221.35	64.88	432.85
140	SHANK3	244.90	12.74	621.93
141	SHH	161.98	64.47	259.27
142	SIX3	122.83	85.98	168.90
143	SLC12A1 ^a	258.77	62.97	558.39
144	SLC12A3	280.89	56.97	814.03
145	SLC16A2	265.88	60.08	534.50
146	SLC3A1	226.04	90.48	481.54
147	SLC6A8	115.64	2.00	346.38
148	SLC9A6	140.59	40.48	373.83
149	SMAD4 ^a	290.53	109.10	607.62
150	SOX2	195.01	156.36	240.25
151	SPINK1 ^a	194.39	57.54	401.97
152	SRY	65.35	0.00	189.58
153	SYN1	211.18	33.53	488.47
154	SYNGAP1	209.23	41.07	495.34
155	TBCE ^a	274.69	89.15	774.41
156	TBX1 ^a	281.13	28.78	628.34
157	TBX3	229.37	102.59	459.90
158	TBX5 ^a	267.57	94.82	473.34
159	TCF4 ^a	277.43	72.17	568.07
160	TCOF1	335.67	175.06	602.11
161	TGFBR1	211.80	1.52	479.34
162	TGFBR2	303.18	84.26	614.98
163	TGIF1	302.73	169.50	481.36
164	TIMM8A	166.52	37.46	370.74
165	TRPS1 ^a	267.79	112.32	411.15
166	TSC1 ^a	293.98	45.37	607.17
167	TSC2 ^a	286.10	0.00	776.60
168	TWIST1	96.89	76.02	120.38
169	UPF3B	200.15	53.63	424.96
170	USH1C	283.03	38.50	767.39
171	VHL	130.75	57.24	269.80
172	WT1	335.43	112.21	654.89
173	XIAP ^a	132.08	31.85	278.12
174	ZDHHC9 ^a	223.57	61.28	554.63
175	ZEB2 ^a	261.68	97.71	474.05
176	ZFPM2	211.09	6.00	393.25
177	ZIC1	228.52	127.92	369.74
178	ZIC2	128.92	29.81	320.70
179	ZIC3	202.01	120.08	320.90
180	ZIC4	291.25	127.92	616.00

^aTarget regions do not include non-coding first exons

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