Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNM1L_chr12_32674301_32750650	32717214	A A	AATATATA others(20): Show AATATATAGTATATACTATATATATTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0014 a0001c0006t0004g0014	1	230	0.0044	27	c.620 others(44): Show c.620-1415_620-1414insCTATATATATTTTATATATAGTATATA	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNM1L_chr12_32674301_32750650	32717944	A A	AATATAGT others(20): Show AATATAGTATATATAGTATATATATTAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19091.hp1 NA18994.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0001g0087 a0001c0001t0001g0195	2	230	0.0087	27	c.620 others(42): Show c.620-680_620-654dupATATATTATATATAGTATATATAGTAT	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNM2_chr19_10713079_10836903	10726218	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00423.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0006 a0001c0002t0001g0007	2	278	0.0072	27	c.161 others(44): Show c.161+7827_161+7828insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM3_chr1_171836498_172417717	172106847	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	136	0.0074	27	c.154 others(48): Show c.1545+13996_1545+13997insTTTTTTTTTTTTTTTTTTTTTTTT TTT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0139 a0003c0005t0004g0139	1	274	0.0037	27	c.454 others(44): Show c.4548+709_4548+710insGGTTTTTTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99970971	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01517.hp1 HG00280.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0204 a0002c0002t0001g0180 a0002c0002t0001g0204	2	274	0.0073	27	c.145 others(43): Show c.145+982_145+1008dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	2/16			chr10	TogoVar
DOC2B_chr17_137789_186650	140958	T T	TTGGTGAG others(20): Show TTGGTGAGGGGACCTGGTGAGGAGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02523.hp2 HG03942.hp2 others(2): Show HG02451.hp2 HG02523.hp2 HG03942.hp2 NA18951.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0010 a0001c0001t0057 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0057 a0001c0010t0048	a0001c0001t0001g0188 a0001c0001t0001g0261 a0001c0001t0010g0102 others(2): Show a0001c0001t0001g0188 a0001c0001t0001g0261 a0001c0001t0010g0102 a0001c0001t0057g0202 a0001c0010t0048g0227	5	339	0.0148	27	c.64 others(38): Show c.6482_*6483insGGTCCTCCTCACCAGGTCCCCTCACCA	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1830		chr17	TogoVar
DOC2B_chr17_137789_186650	141484	C C	CTGGTGAG others(20): Show CTGGTGAGGAGGACATGGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02523.hp2 HG02056.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0057 a0001c0001t0001 a0001c0001t0057	a0001c0001t0001g0003 a0001c0001t0057g0202 a0001c0001t0001g0003 a0001c0001t0057g0202	2	339	0.0059	27	c.59 others(38): Show c.5956_*5957insAGGTCCCCCCCCATGTCCTCCTCACCA	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1304		chr17	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	172	0.0058	27	c.244 others(44): Show c.244-4329_244-4328insATATATATATATATATATATTTTTTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	225018487	C C	CATATATA others(20): Show CATATATATATAATATATATGTAATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG01516.hp1 others(1): Show HG00099.hp2 HG01261.hp1 HG01516.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0001c0001t0001 a0001c0001t0003 a0001c0006t0001	a0001c0001t0001g0134 a0001c0001t0003g0130 a0001c0001t0003g0135 others(1): Show a0001c0001t0001g0134 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0006t0001g0136	4	172	0.0233	27	c.123 others(46): Show c.123+23738_123+23764dupAATATTACATATATATTATATATATA T	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	225018621	T T	TTATATAT others(20): Show TTATATATATAATATATATGTAATATTA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19030.hp1 HG03017.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0164 a0002c0003t0001g0152 a0001c0001t0001g0164 a0002c0003t0001g0152	2	172	0.0116	27	c.123 others(46): Show c.123+23604_123+23630dupTAATATTACATATATATTATATATAT A	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0151 a0004c0018t0001g0151	1	211	0.0047	27	c.102 others(46): Show c.102+19931_102+19932insTATATATATATATATATATATATATA T	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52			chrX	TogoVar
DOCK11_chrX_118490815_118691147	118647738	A A	ATATAATA others(20): Show ATATAATATATAATAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19005.hp1 HG01261.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0046 a0001c0002t0001g0068 a0001c0001t0003g0046 a0001c0002t0001g0068	2	211	0.0095	27	c.439 others(46): Show c.4399-1158_4399-1132dupATATATTATAATATATAATAATATAT A	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	40/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	126924195	C C	CTGAGTGC others(20): Show CTGAGTGCTGGAACTGAGCGGGGGGACT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	136	0.0074	27	c.46+ others(44): Show c.46+18635_46+18636insGTGCTGGAACTGAGCGGGGGGACTTGA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126963633	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0007 a0002c0022t0007	a0002c0022t0007g0002 a0002c0022t0007g0002	1	136	0.0074	27	c.47- others(42): Show c.47-7068_47-7067insTTCCTTCCTTCCTTCCTTCCTTCCTTC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127093239	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTTCTTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0102 a0001c0006t0001g0102	1	136	0.0074	27	c.244 others(48): Show c.2446-12990_2446-12989insTCTTTCTTTTCTTTTCTTTCTTTC TTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127093239	C C	CTTTCTTT others(20): Show CTTTCTTTTCTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02735.hp1 NA18998.hp1 HG01175.hp1 HG02735.hp1 NA18998.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0065 a0002c0045 a0005c0014 a0001c0065 a0002c0045 a0005c0014	a0001c0065t0001 a0002c0045t0002 a0005c0014t0004 a0001c0065t0001 a0002c0045t0002 a0005c0014t0004	a0001c0065t0001g0046 a0002c0045t0002g0029 a0005c0014t0004g0057 a0001c0065t0001g0046 a0002c0045t0002g0029 a0005c0014t0004g0057	3	136	0.0221	27	c.244 others(48): Show c.2446-12990_2446-12989insTCTTTTCTTTTCTTTCTTTCTTTC TTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127140638	A A	AAGTCTCT others(20): Show AAGTCTCTGGGTTGAGTTTGACACACCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG00738.hp2 others(50): Show HG00423.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 NA18747.hp1 NA18943.hp1 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18998.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(24): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0034 a0001c0054 a0001c0056 a0001c0060 a0001c0061 a0001c0073 a0002c0010 a0002c0017 a0002c0018 a0002c0053 a0002c0058 a0002c0059 a0003c0003 a0004c0013 a0004c0051 a0005c0014	a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 others(30): Show a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0001c0002t0008 a0001c0005t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0001 a0001c0008t0002 a0001c0008t0014 a0001c0008t0015 a0001c0009t0002 a0001c0011t0001 a0001c0012t0002 a0001c0015t0001 a0001c0016t0002 a0001c0034t0001 a0001c0054t0011 a0001c0056t0001 a0001c0060t0002 a0001c0061t0001 a0001c0073t0001 a0002c0010t0002 a0002c0010t0005 a0002c0017t0002 a0002c0018t0001 a0002c0053t0002 a0002c0058t0002 a0002c0059t0001 a0003c0003t0003 a0004c0013t0003 a0004c0051t0003 a0005c0014t0009	a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0021 others(50): Show a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0128 a0001c0001t0016g0007 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0097 a0001c0002t0008g0099 a0001c0005t0001g0045 a0001c0005t0001g0111 a0001c0005t0006g0084 a0001c0005t0006g0134 a0001c0006t0001g0064 a0001c0007t0001g0020 a0001c0007t0001g0085 a0001c0007t0001g0105 a0001c0008t0002g0075 a0001c0008t0002g0089 a0001c0008t0014g0072 a0001c0008t0015g0039 a0001c0009t0002g0027 a0001c0009t0002g0031 a0001c0009t0002g0110 a0001c0011t0001g0048 a0001c0011t0001g0071 a0001c0012t0002g0115 a0001c0012t0002g0116 a0001c0015t0001g0068 a0001c0015t0001g0127 a0001c0016t0002g0093 a0001c0034t0001g0015 a0001c0054t0011g0024 a0001c0056t0001g0012 a0001c0060t0002g0109 a0001c0061t0001g0096 a0001c0073t0001g0019 a0002c0010t0002g0040 a0002c0010t0005g0009 a0002c0010t0005g0083 a0002c0017t0002g0136 a0002c0018t0001g0070 a0002c0053t0002g0118 a0002c0058t0002g0011 a0002c0059t0001g0104 a0003c0003t0003g0088 a0004c0013t0003g0036 a0004c0051t0003g0026 a0005c0014t0009g0078	53	136	0.3897	27	c.284 others(48): Show c.2847+12891_2847+12917dupTTGACACACCGAGTCTCTGGGTTG AGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	50698517	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	212	0.0047	27	c.37+ others(44): Show c.37+23242_37+23243insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51281274	A A	AATATAAT others(20): Show AATATAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	212	0.0047	27	c.292 others(46): Show c.2922+1075_2922+1076insATATATATATATATATATATATATAT A	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	27/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK4_chr7_111721110_112211399	111762762	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	106	0.0094	27	c.402 others(46): Show c.4020+2355_4020+2356insAAAAAAAAAAAAAAAAAAAAAAAAAA A	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	39/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	111908461	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	106	0.0094	27	c.119 others(46): Show c.1193-6661_1193-6660insATTATTATTATTATTATTATTATTAT T	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	13/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	111929727	T T	TCTAGGTA others(20): Show TCTAGGTAATTCTTTTTAACTTCCTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02896.hp2 others(1): Show HG01433.hp1 HG01891.hp1 HG02896.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0045 a0001c0001t0003g0066 a0001c0002t0002g0015 others(1): Show a0001c0001t0001g0045 a0001c0001t0003g0066 a0001c0002t0002g0015 a0001c0004t0001g0042	4	106	0.0377	27	c.106 others(46): Show c.1066+5812_1066+5813insCACAGGAAGTTAAAAAGAATTACCTA G	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	12/52			chr7	TogoVar
DOCK5_chr8_25179689_25420711	25183208	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01071.hp1 HG01071.hp2 others(2): Show HG00323.hp2 HG01071.hp1 HG01071.hp2 HG01516.hp1 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0001c0016 others(2): Show a0001c0003 a0001c0009 a0001c0016 a0002c0006 a0002c0017	a0001c0003t0001 a0001c0009t0007 a0001c0016t0001 others(2): Show a0001c0003t0001 a0001c0009t0007 a0001c0016t0001 a0002c0006t0002 a0002c0017t0014	a0001c0003t0001g0104 a0001c0009t0007g0142 a0001c0016t0001g0105 others(2): Show a0001c0003t0001g0104 a0001c0009t0007g0142 a0001c0016t0001g0105 a0002c0006t0002g0054 a0002c0017t0014g0047	5	210	0.0238	27	c.-17 others(38): Show c.-1701_-1700insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding		1480		chr8	TogoVar
DOCK6_chr19_11194295_11267524	11260892	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0302 a0002c0001t0001g0302	1	314	0.0032	27	c.44+ others(42): Show c.44+1504_44+1505insCTTTTTTTTTTTTTTTTTTTTTTTTTT	DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	1/47			chr19	TogoVar
DOCK7_chr1_62449726_62693386	62483209	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	228	0.0044	27	c.550 others(46): Show c.5508+4188_5508+4189insCAAAAAAAAAAAAAAAAAAAAAAAAA A	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	43/49			chr1	TogoVar
DOCK8_chr9_209865_470255	400310	T T	TCACCATC others(20): Show TCACCATCACCACCACCTCCACCATCAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0113 a0002c0113	a0002c0113t0001 a0002c0113t0001	a0002c0113t0001g0235 a0002c0113t0001g0235	1	256	0.0039	27	c.323 others(46): Show c.3234+1056_3234+1057insTCACCACCACCTCCACCATCACCACC A	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400356	C C	CACCACCA others(20): Show CACCACCACCACCTCCACCACCAGCACT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0134 a0003c0004t0001g0134	1	256	0.0039	27	c.323 others(46): Show c.3234+1097_3234+1098insACCACCACCACCTCCACCACCAGCAC T	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400839	C C	CCTCTAGC others(20): Show CCTCTAGCAATATTATCACCTTTCCTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0001 a0006c0024t0001	a0006c0024t0001g0210 a0006c0024t0001g0210	1	256	0.0039	27	c.323 others(46): Show c.3234+1581_3234+1582insTCTAGCAATATTATCACCTTTCCTAT C	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK1_chr2_74549720_74562551	74561097	A A	AAGGAGGA others(20): Show AAGGAGGAGGAGGAGGAGGAGGAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	334	0.0030	27	c.39 others(38): Show c.3983_*3984insAGGAGGAGGAGGAGGAGGAGGAGAAGG	DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding		3547		chr2	TogoVar
DOK1_chr2_74549720_74562551	74561235	G G	GAGGAGGA others(20): Show GAGGAGGAGGAGAAGGAGGAGGAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03471.hp2 HG03516.hp2 HG01891.hp2 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	334	0.0090	27	c.41 others(38): Show c.4121_*4122insAGGAGGAGGAGAAGGAGGAGGAGGAGA	DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding		3685		chr2	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGGGAGG others(20): Show GGGGGAGGGGGAGGGGAGGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	436	0.0023	27	c.69 others(38): Show c.6974_*6975insTCCCCTCCCCCTCCCCTCCCCCTCCCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4895		chr5	TogoVar
DOK5_chr20_54470593_54656169	54645236	T T	TAGTCCTC others(20): Show TAGTCCTCCATGCCCGCTCTGAACCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01074.hp2 others(3): Show HG00642.hp2 HG00733.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0055 a0001c0001t0006g0064 a0001c0001t0006g0067 others(3): Show a0001c0001t0002g0055 a0001c0001t0006g0064 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0006g0070	6	130	0.0462	27	c.856 others(44): Show c.856+1670_856+1671insCCGCTCTGAACCCTCAGTCCTCCATGC	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54645249	T T	TCGCTCTG others(20): Show TCGCTCTGAACCCTCAGTCCTCCATGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02809.hp1 others(2): Show HG02145.hp1 HG02559.hp1 HG02809.hp1 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0016 a0001c0001t0032 others(2): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0032 a0001c0002t0001 a0001c0005t0002	a0001c0001t0002g0115 a0001c0001t0016g0073 a0001c0001t0032g0009 others(2): Show a0001c0001t0002g0115 a0001c0001t0016g0073 a0001c0001t0032g0009 a0001c0002t0001g0091 a0001c0005t0002g0080	5	130	0.0385	27	c.856 others(44): Show c.856+1847_856+1873dupCAGTCCTCCATGCCCGCTCTGAACCCT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GATATATA others(20): Show GATATATATATATATATGAGATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0023 a0001c0001t0025g0023	1	170	0.0059	27	c.856 others(46): Show c.856+16276_856+16277insGAGATATATATATATATATATATATA T	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69851192	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01192.hp2 others(3): Show HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01517.hp2 HG04199.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0103	a0001c0001t0001g0071 a0001c0001t0012g0144 a0001c0002t0001g0005 others(3): Show a0001c0001t0001g0071 a0001c0001t0012g0144 a0001c0002t0001g0005 a0001c0002t0001g0157 a0001c0002t0002g0046 a0001c0002t0103g0161	6	170	0.0353	27	c.98 others(38): Show c.9809_*9810insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding		2106		chr18	TogoVar
DOK7_chr4_3458306_3499482	3490383	C C	CCCTGCTC others(20): Show CCCTGCTCATTCAGTCCTTCATTACCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02056.hp2 HG02145.hp1 others(5): Show HG01884.hp1 HG02056.hp2 HG02145.hp1 HG03195.hp2 HG03471.hp1 HG03579.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0015 a0002c0002 others(2): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0015t0002 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0015t0002 a0002c0002t0001 a0003c0003t0004 a0004c0004t0006	a0001c0001t0002g0136 a0001c0015t0002g0098 a0002c0002t0001g0371 others(5): Show a0001c0001t0002g0136 a0001c0015t0002g0098 a0002c0002t0001g0371 a0003c0003t0004g0219 a0003c0003t0004g0249 a0003c0003t0004g0255 a0004c0004t0006g0227 a0004c0004t0006g0318	8	404	0.0198	27	c.772 others(42): Show c.772+606_772+607insATTACCCTCCTGCTCATTCAGTCCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490383	C C	CCCTGCTC others(20): Show CCCTGCTCATTCAGTCCTTCATTTCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG01109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0191 a0001c0001t0005g0267 a0001c0001t0005g0191 a0001c0001t0005g0267	2	404	0.0050	27	c.772 others(42): Show c.772+606_772+607insATTTCTCTCCTGCTCATTCAGTCCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490387	G G	GCTCATTC others(20): Show GCTCATTCATTCCTTCCTTTTCCCCACA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01361.hp1 HG01496.hp1 others(10): Show HG01070.hp1 HG01361.hp1 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG02148.hp1 HG02293.hp1 HG02738.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0004 a0003c0003t0007 a0001c0001t0003 a0003c0003t0004 a0003c0003t0007	a0001c0001t0003g0196 a0003c0003t0004g0021 a0003c0003t0004g0237 others(9): Show a0001c0001t0003g0196 a0003c0003t0004g0021 a0003c0003t0004g0237 a0003c0003t0004g0269 a0003c0003t0004g0328 a0003c0003t0004g0329 a0003c0003t0007g0030 a0003c0003t0007g0031 a0003c0003t0007g0104 a0003c0003t0007g0105 a0003c0003t0007g0107 a0003c0003t0007g0195	13	404	0.0322	27	c.772 others(42): Show c.772+599_772+600insTTCCTTCCTTTTCCCCACACTCATTCA	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490396	G G	GTCCTTCA others(20): Show GTCCTTCATTACCCTCCTGCTCATTCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(194): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0011 a0012 a0015 a0016 a0017 a0018 a0021 a0024	a0001c0001 a0002c0002 a0002c0027 others(13): Show a0001c0001 a0002c0002 a0002c0027 a0003c0003 a0004c0007 a0008c0009 a0009c0010 a0010c0013 a0011c0011 a0012c0030 a0015c0026 a0016c0025 a0017c0019 a0018c0020 a0021c0021 a0024c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 a0002c0002t0027 a0002c0002t0028 a0002c0027t0001 a0003c0003t0004 a0003c0003t0007 a0003c0003t0033 a0004c0007t0022 a0008c0009t0003 a0009c0010t0001 a0010c0013t0024 a0011c0011t0013 a0012c0030t0001 a0015c0026t0004 a0016c0025t0003 a0017c0019t0004 a0018c0020t0007 a0021c0021t0003 a0024c0028t0001	a0001c0001t0002g0018 a0001c0001t0002g0063 a0001c0001t0002g0069 others(180): Show a0001c0001t0002g0018 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0124 a0001c0001t0002g0176 a0001c0001t0002g0193 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0258 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0317 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0037 a0001c0001t0003g0048 a0001c0001t0003g0055 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0097 a0001c0001t0003g0130 a0001c0001t0003g0149 a0001c0001t0003g0160 a0001c0001t0003g0177 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0197 a0001c0001t0003g0205 a0001c0001t0003g0242 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0302 a0001c0001t0003g0308 a0001c0001t0003g0321 a0001c0001t0003g0324 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0337 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0005g0046 a0001c0001t0005g0279 a0001c0001t0020g0360 a0001c0001t0021g0087 a0001c0001t0026g0129 a0001c0001t0034g0025 a0001c0001t0035g0103 a0001c0001t0037g0111 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0024 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0134 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0175 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0273 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0288 a0002c0002t0001g0326 a0002c0002t0001g0330 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0345 a0002c0002t0001g0362 a0002c0002t0001g0374 a0002c0002t0001g0376 a0002c0002t0009g0053 a0002c0002t0009g0061 a0002c0002t0017g0144 a0002c0002t0027g0364 a0002c0002t0028g0361 a0002c0027t0001g0044 a0003c0003t0004g0015 a0003c0003t0004g0039 a0003c0003t0004g0093 a0003c0003t0004g0116 a0003c0003t0004g0123 a0003c0003t0004g0125 a0003c0003t0004g0178 a0003c0003t0004g0221 a0003c0003t0004g0226 a0003c0003t0004g0289 a0003c0003t0004g0291 a0003c0003t0004g0323 a0003c0003t0004g0331 a0003c0003t0004g0335 a0003c0003t0004g0359 a0003c0003t0004g0375 a0003c0003t0007g0027 a0003c0003t0007g0029 a0003c0003t0007g0034 a0003c0003t0007g0036 a0003c0003t0007g0101 a0003c0003t0007g0102 a0003c0003t0007g0106 a0003c0003t0033g0086 a0004c0007t0022g0240 a0008c0009t0003g0099 a0008c0009t0003g0186 a0008c0009t0003g0188 a0009c0010t0001g0151 a0009c0010t0001g0204 a0010c0013t0024g0325 a0011c0011t0013g0040 a0012c0030t0001g0062 a0015c0026t0004g0215 a0016c0025t0003g0355 a0017c0019t0004g0313 a0018c0020t0007g0028 a0021c0021t0003g0351 a0024c0028t0001g0006	197	404	0.4876	27	c.772 others(42): Show c.772+606_772+607insATTACCCTCCTGCTCATTCATTCCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490396	G G	GTCCTTCA others(20): Show GTCCTTCATTTCTCTCCTGCTCATTCAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0187 a0001c0001t0005g0187	1	404	0.0025	27	c.772 others(42): Show c.772+606_772+607insATTTCTCTCCTGCTCATTCATTCCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490396	G G	GTCCTTCC others(20): Show GTCCTTCCTTTTCCCCACACTCATTCAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0033 a0003c0003t0007g0033	1	404	0.0025	27	c.772 others(42): Show c.772+606_772+607insCTTTTCCCCACACTCATTCATTCCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490398	C C	CCTTCATT others(20): Show CCTTCATTACCCTCCTGCTCATTCATTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0029 a0003c0003t0029	a0003c0003t0029g0156 a0003c0003t0029g0156	1	404	0.0025	27	c.772 others(42): Show c.772+606_772+607insATTACCCTCCTGCTCATTCATTTCTTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490448	C C	CCTGCTCA others(20): Show CCTGCTCATTCATTCCTTTCTTCTCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02300.hp2 HG03710.hp2 others(1): Show HG01243.hp1 HG02300.hp2 HG03710.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0003c0003t0007 a0001c0001t0002 a0001c0001t0005 a0003c0003t0007	a0001c0001t0002g0298 a0001c0001t0005g0230 a0001c0001t0005g0236 others(1): Show a0001c0001t0002g0298 a0001c0001t0005g0230 a0001c0001t0005g0236 a0003c0003t0007g0106	4	404	0.0099	27	c.772 others(42): Show c.772+670_772+696dupTCTTCTCCCTCTGCTCATTCATTCCTT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3491369	G G	GCTCCCCC others(20): Show GCTCCCCCTGCTCATTCATTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp1 NA20905.hp2 HG02602.hp2 HG02735.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0209 a0002c0002t0001g0019 a0002c0002t0001g0209	3	404	0.0074	27	c.773 others(44): Show c.773-1378_773-1377insATTCATTCCTTCCTTCTCCCCCTGCTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3491382	G G	GTTCATTC others(20): Show GTTCATTCCTTCCTTCTCCCCCTGCTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(117): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01257.hp2 HG01496.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0009 a0010 a0012 a0024	a0001c0001 a0002c0002 a0002c0027 others(7): Show a0001c0001 a0002c0002 a0002c0027 a0004c0007 a0005c0005 a0005c0024 a0009c0010 a0010c0013 a0012c0030 a0024c0028	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(14): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 a0002c0002t0027 a0002c0002t0028 a0002c0002t0036 a0002c0027t0001 a0004c0007t0011 a0005c0005t0008 a0005c0024t0008 a0009c0010t0001 a0010c0013t0024 a0010c0013t0025 a0012c0030t0001 a0024c0028t0001	a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0135 others(109): Show a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0135 a0001c0001t0003g0348 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0024 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0175 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0183 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0217 a0002c0002t0001g0235 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0288 a0002c0002t0001g0307 a0002c0002t0001g0312 a0002c0002t0001g0326 a0002c0002t0001g0330 a0002c0002t0001g0336 a0002c0002t0001g0339 a0002c0002t0001g0345 a0002c0002t0001g0362 a0002c0002t0001g0371 a0002c0002t0001g0374 a0002c0002t0001g0376 a0002c0002t0009g0053 a0002c0002t0009g0054 a0002c0002t0009g0061 a0002c0002t0009g0300 a0002c0002t0017g0144 a0002c0002t0027g0364 a0002c0002t0028g0361 a0002c0002t0036g0194 a0002c0027t0001g0044 a0004c0007t0011g0100 a0004c0007t0011g0189 a0004c0007t0011g0319 a0005c0005t0008g0017 a0005c0005t0008g0092 a0005c0005t0008g0171 a0005c0005t0008g0172 a0005c0005t0008g0173 a0005c0005t0008g0184 a0005c0005t0008g0185 a0005c0005t0008g0190 a0005c0005t0008g0253 a0005c0024t0008g0282 a0009c0010t0001g0151 a0009c0010t0001g0204 a0009c0010t0001g0340 a0010c0013t0024g0325 a0010c0013t0025g0264 a0012c0030t0001g0062 a0024c0028t0001g0006	120	404	0.2970	27	c.773 others(44): Show c.773-1364_773-1363insTCTCCCCCTGCTCATTCATTCCTTCCT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02040.hp2 HG02273.hp1 others(3): Show HG01934.hp1 HG02040.hp2 HG02273.hp1 HG02818.hp2 HG04204.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0023 a0001c0001t0027	a0001c0001t0003g0018 a0001c0001t0008g0248 a0001c0001t0008g0249 others(2): Show a0001c0001t0003g0018 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0023g0295 a0001c0001t0027g0387	6	426	0.0141	27	c.964 others(42): Show c.964+287_964+288insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DOP1B_chr21_36151824_36299274	36242151	C C	CATTATTG others(20): Show CATTATTGTTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0123 a0001c0002t0007g0123	1	292	0.0034	27	c.306 others(46): Show c.3067+2202_3067+2203insGTTATTATTATTATTATTATTATTAT T	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPEP1_chr16_89608642_89643433	89619064	C C	CCCCCGCT others(20): Show CCCCCGCTCCCCTCCCTGCAGCTCCCTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp1 HG01496.hp1 others(9): Show HG00408.hp1 HG01168.hp1 HG01496.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp2 NA18999.hp2 NA19011.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0001c0001t0001 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0002c0002t0001g0144 others(9): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0002c0002t0001g0144 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0173 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0198 a0002c0007t0001g0145	12	250	0.0480	27	c.-10 others(46): Show c.-107+5349_-107+5350insGCTCCCCTCCCTGCAGCTCCCTGCCC C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPF3_chr14_72604034_72899101	72756869	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0137 a0001c0001t0096g0137	1	234	0.0043	27	c.194 others(44): Show c.194-3499_194-3498insCCTTCTTTCTTTCTTTCTTTCTTTCTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar

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