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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DNAJC13_chr3_132412502_132544032	132478139	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp1 HG01192.hp1 HG00642.hp1 HG01192.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0029 a0008c0010t0002g0030 a0008c0010t0002g0029 a0008c0010t0002g0030	2	318	0.0063	0	c.270 others(4): Show c.2708G>A	p.Arg others(6): Show p.Arg903Lys	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	24/56	2980/7754	2708/6732	903/2243			chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132492416	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18945.hp1 NA18945.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0171 a0010c0014t0002g0171	1	318	0.0031	0	c.362 others(4): Show c.3626G>A	p.Arg others(7): Show p.Arg1209His	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	33/56	3898/7754	3626/6732	1209/2243			chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132495088	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03195.hp1 HG03195.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0271 a0014c0015t0001g0271	1	318	0.0031	0	c.394 others(4): Show c.3942G>A	p.Pro others(7): Show p.Pro1314Pro	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	35/56	4214/7754	3942/6732	1314/2243			chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132496523	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0235	1	318	0.0031	0	c.402 others(6): Show c.4021-5T>C		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	35/55						chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132513106	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03209.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0145 a0012c0020t0001g0145	1	318	0.0031	0	c.538 others(6): Show c.5385+7G>A		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	45/55						chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132516500	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 NA20905.hp2 HG02602.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0042 a0002c0002t0001g0033 a0002c0002t0001g0042	2	318	0.0063	0	c.556 others(6): Show c.5560+4A>T		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	47/55						chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132525603	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	318	0.0031	0	c.606 others(6): Show c.6061-7C>T		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	51/55						chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132525793	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	318	0.0031	0	c.624 others(6): Show c.6240+4T>C		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	52/55						chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132538170	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02559.hp1 HG03195.hp2 others(2): Show HG02257.hp2 HG02559.hp1 HG03195.hp2 NA19030.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0019 a0004c0005 a0001c0019 a0004c0005	a0001c0019t0001 a0004c0005t0001 a0001c0019t0001 a0004c0005t0001	a0001c0019t0001g0148 a0004c0005t0001g0142 a0004c0005t0001g0289 others(2): Show a0001c0019t0001g0148 a0004c0005t0001g0142 a0004c0005t0001g0289 a0004c0005t0001g0292 a0004c0005t0001g0293	5	318	0.0157	0	c.662 others(6): Show c.6626-6T>C		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	55/55						chr3	TogoVar
DNAJC15_chr13_43018586_43119213	43068930	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0016 a0004c0005t0007g0016	1	352	0.0028	0	c.161 others(3): Show c.161G>C	p.Gly others(5): Show p.Gly54Ala	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	3/6	202/7459	161/453	54/150			chr13	TogoVar
DNAJC16_chr1_15521848_15576733	15534308	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00639.hp2 HG00642.hp1 others(72): Show HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp2 NA18906.hp1 NA18941.hp1 NA18951.hp2 NA18954.hp2 NA18964.hp1 NA18969.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp2 NA18988.hp2 NA18991.hp1 NA19043.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0017 a0001c0002t0027 a0001c0002t0033 a0001c0009t0003	a0001c0001t0001g0288 a0001c0002t0003g0004 a0001c0002t0003g0125 others(69): Show a0001c0001t0001g0288 a0001c0002t0003g0004 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0200 a0001c0002t0013g0146 a0001c0002t0013g0157 a0001c0002t0017g0158 a0001c0002t0027g0138 a0001c0002t0033g0185 a0001c0009t0003g0139	75	356	0.2107	0	c.234 others(5): Show c.234+5C>T		DNAJC16	ENSG00000116138.13	transcript	ENST00000375847.8	protein_coding	3/14						chr1	TogoVar
DNAJC16_chr1_15521848_15576733	15565919	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0257 a0004c0006t0001g0257	1	356	0.0028	0	c.159 others(4): Show c.1599G>C	p.Trp others(6): Show p.Trp533Cys	DNAJC16	ENSG00000116138.13	transcript	ENST00000375847.8	protein_coding	12/15	1728/6034	1599/2349	533/782			chr1	TogoVar
DNAJC16_chr1_15521848_15576733	15565920	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00323.hp2 HG00639.hp2 HG00642.hp1 others(97): Show HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18951.hp2 NA18954.hp2 NA18964.hp1 NA18969.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA19043.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 others(8): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0017 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0009t0003	a0001c0002t0003g0004 a0001c0002t0003g0125 a0001c0002t0003g0126 others(92): Show a0001c0002t0003g0004 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0113 a0001c0002t0011g0132 a0001c0002t0011g0133 a0001c0002t0011g0134 a0001c0002t0012g0123 a0001c0002t0012g0124 a0001c0002t0013g0146 a0001c0002t0013g0157 a0001c0002t0017g0158 a0001c0002t0025g0121 a0001c0002t0026g0201 a0001c0002t0027g0138 a0001c0002t0033g0185 a0001c0009t0003g0139	100	356	0.2809	0	c.160 others(4): Show c.1600A>C	p.Arg others(6): Show p.Arg534Arg	DNAJC16	ENSG00000116138.13	transcript	ENST00000375847.8	protein_coding	12/15	1729/6034	1600/2349	534/782			chr1	TogoVar
DNAJC16_chr1_15521848_15576733	15566082	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0139 a0001c0009t0003g0139	1	356	0.0028	0	c.168 others(4): Show c.1680C>T	p.Ser others(6): Show p.Ser560Ser	DNAJC16	ENSG00000116138.13	transcript	ENST00000375847.8	protein_coding	13/15	1809/6034	1680/2349	560/782			chr1	TogoVar
DNAJC17_chr15_40760161_40812473	40779317	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	358	0.0028	0	c.208 others(5): Show c.208-7C>A		DNAJC17	ENSG00000104129.10	transcript	ENST00000220496.9	protein_coding	3/10						chr15	TogoVar
DNAJC1_chr10_21751548_22008730	21806105	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	164	0.0061	0	c.979 others(5): Show c.979-6T>G		DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11						chr10	TogoVar
DNAJC21_chr5_34924559_34963964	34929921	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03927.hp1 HG04115.hp2 HG03927.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0006 a0001c0013t0033 a0001c0001t0006 a0001c0013t0033	a0001c0001t0006g0065 a0001c0013t0033g0066 a0001c0001t0006g0065 a0001c0013t0033g0066	2	428	0.0047	0	c.97+ others(4): Show c.97+5G>A		DNAJC21	ENSG00000168724.18	transcript	ENST00000648817.1	protein_coding	1/11						chr5	TogoVar
DNAJC27_chr2_24938642_24976955	24957803	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	382	0.0026	0	c.405 others(5): Show c.405+7C>T		DNAJC27	ENSG00000115137.12	transcript	ENST00000264711.7	protein_coding	4/6						chr2	TogoVar
DNAJC2_chr7_103307289_103349767	103313105	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG01175.hp1 HG01891.hp2 others(6): Show HG00323.hp1 HG01175.hp1 HG01891.hp2 HG02280.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0006 a0001c0001 a0004c0005 a0005c0006	a0001c0001t0001 a0004c0005t0001 a0005c0006t0001 a0001c0001t0001 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0061 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0228 a0004c0005t0001g0227 a0005c0006t0001g0129	9	406	0.0222	0	c.163 others(6): Show c.1637-4T>A		DNAJC2	ENSG00000105821.15	transcript	ENST00000379263.8	protein_coding	15/16						chr7	TogoVar
DNAJC2_chr7_103307289_103349767	103315985	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	406	0.0025	0	c.152 others(6): Show c.1528+3G>A		DNAJC2	ENSG00000105821.15	transcript	ENST00000379263.8	protein_coding	14/16						chr7	TogoVar
DNAJC6_chr1_65304543_65420871	65364614	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00597.hp1 HG00673.hp2 others(64): Show HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03831.hp1 HG06807.hp1 NA18522.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp2 NA18993.hp2 NA19001.hp1 NA19011.hp1 NA19012.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0010	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0003c0007 a0005c0010 a0009c0018 a0010c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0005t0018 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0011 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0008 a0002c0004t0011 a0002c0004t0017 a0002c0004t0025 a0003c0007t0001 a0005c0010t0003 a0005c0010t0004 a0009c0018t0001 a0010c0019t0004	a0001c0001t0001g0189 a0001c0001t0003g0187 a0001c0001t0003g0205 others(63): Show a0001c0001t0001g0189 a0001c0001t0003g0187 a0001c0001t0003g0205 a0001c0001t0003g0234 a0001c0001t0006g0239 a0001c0001t0008g0109 a0001c0001t0008g0143 a0001c0003t0001g0190 a0001c0003t0001g0204 a0001c0003t0001g0226 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0003g0194 a0001c0003t0004g0208 a0001c0003t0006g0005 a0001c0005t0018g0017 a0002c0002t0001g0020 a0002c0002t0001g0063 a0002c0002t0001g0119 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0184 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0241 a0002c0002t0003g0173 a0002c0002t0003g0195 a0002c0002t0003g0309 a0002c0002t0004g0018 a0002c0002t0004g0019 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0007g0307 a0002c0002t0011g0036 a0002c0002t0011g0126 a0002c0004t0002g0216 a0002c0004t0002g0237 a0002c0004t0004g0210 a0002c0004t0005g0211 a0002c0004t0006g0169 a0002c0004t0006g0170 a0002c0004t0008g0218 a0002c0004t0008g0219 a0002c0004t0011g0213 a0002c0004t0017g0166 a0002c0004t0017g0269 a0002c0004t0025g0214 a0003c0007t0001g0172 a0005c0010t0003g0028 a0005c0010t0004g0180 a0009c0018t0001g0197 a0010c0019t0004g0153	67	326	0.2055	-1	c.194 others(6): Show c.194-6delT		DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC7_chr17_41971435_42022439	41983644	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	338	0.0030	0	c.101 others(6): Show c.1011-8C>T		DNAJC7	ENSG00000168259.17	transcript	ENST00000457167.9	protein_coding	9/13						chr17	TogoVar
DNAJC7_chr17_41971435_42022439	41994952	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(217): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0002g0028 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0002t0002g0054 a0002c0003t0001g0097 a0002c0003t0001g0098	234	338	0.6923	0	c.406 others(5): Show c.406-8C>T		DNAJC7	ENSG00000168259.17	transcript	ENST00000457167.9	protein_coding	4/13						chr17	TogoVar
DNAJC8_chr1_28195278_28238029	28201377	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00735.hp1 HG01192.hp1 others(2): Show HG00099.hp2 HG00735.hp1 HG01192.hp1 HG02004.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081	5	250	0.0200	0	c.640 others(5): Show c.640-7T>A		DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	8/8						chr1	TogoVar
DNAJC8_chr1_28195278_28238029	28228915	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(110): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18975.hp1 NA18986.hp2 NA18987.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19074.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0005	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(91): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0003g0016 a0001c0001t0004g0180 a0001c0001t0008g0187 a0001c0002t0005g0146	113	250	0.4520	0	c.180 others(5): Show c.180+7C>T		DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	2/8						chr1	TogoVar
DNAJC9_chr10_73236954_73252255	73246834	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	396	0.0025	0	c.181 others(5): Show c.181-6C>T		DNAJC9	ENSG00000213551.7	transcript	ENST00000372950.6	protein_coding	1/4						chr10	TogoVar
DNAL1_chr14_73639986_73708732	73654828	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02257.hp2 HG02451.hp1 others(3): Show HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0021 a0001c0001t0016 a0001c0001t0021	a0001c0001t0016g0320 a0001c0001t0016g0321 a0001c0001t0016g0322 others(3): Show a0001c0001t0016g0320 a0001c0001t0016g0321 a0001c0001t0016g0322 a0001c0001t0016g0323 a0001c0001t0016g0324 a0001c0001t0021g0325	6	340	0.0177	1	c.4-5 others(4): Show c.4-5dupT		DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL1_chr14_73639986_73708732	73654828	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01167.hp1 HG01169.hp1 others(11): Show HG01069.hp1 HG01167.hp1 HG01169.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 NA19056.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0025 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0079	a0001c0001t0001g0245 a0001c0001t0003g0060 a0001c0001t0003g0061 others(11): Show a0001c0001t0001g0245 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0004g0034 a0001c0001t0005g0091 a0001c0001t0009g0149 a0001c0001t0010g0072 a0001c0001t0025g0156 a0001c0001t0029g0079 a0001c0001t0029g0081 a0001c0001t0037g0080 a0001c0001t0038g0084 a0001c0001t0043g0204 a0001c0001t0079g0244	14	340	0.0412	-1	c.4-5 others(4): Show c.4-5delT		DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
DNALI1_chr1_37551940_37571857	37559502	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp1 HG01257.hp2 others(4): Show HG00280.hp2 HG00323.hp1 HG01257.hp2 HG01258.hp2 HG02135.hp1 HG02683.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0020 a0001c0001t0005g0012 a0001c0001t0005g0020	7	406	0.0172	0	c.397 others(5): Show c.397+6T>C		DNALI1	ENSG00000163879.11	transcript	ENST00000652629.1	protein_coding	3/5						chr1	TogoVar
DNASE1L1_chrX_154396236_154414254	154400937	TTGACGGG others(306): Show TTGACGGGGAAGGAACTTCCTCTGGGAACCTTTGGGTCATTGCCCTTTCA CTTCAGAAACAGGTTGACAACTCAGCCCTGCTCATGAGGCAGCAAACCCT GCAAAGGGCTGGGACTGGTGGCCTTATGTCAGTTGTCTACTCTGGAGCTT GACTTGGACCTCCCCAGGTCCTAGGCAGTAGGTTGAAAAACACTGAAGTG CTTTTCATGAAGCACAGCTGCAGCAAAGCCTTGCAATCCCAGGCTGGGGT CAGCCTACAGTTGTGTTGCTTATTACAACACATGCGGACCAAGAGGGGCT TGTGGGCTAGAGGC	T T	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0076 a0001c0001t0015g0095 a0001c0001t0015g0076 a0001c0001t0015g0095	2	279	0.0072	-313	c.14 others(11): Show c.1457_*1769del		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	8/8				298		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154402936	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	279	0.0036	0	c.774 others(5): Show c.774+6G>A		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	7/7						chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154403195	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	279	0.0036	0	c.526 others(5): Show c.526-5T>G		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	6/7						chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154403619	T T	TG TG	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19063.hp1 NA19063.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0027 a0005c0005t0027	a0005c0005t0027g0157 a0005c0005t0027g0157	1	279	0.0036	1	c.314 others(4): Show c.314dupC	p.His others(5): Show p.His106fs	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	5/8	544/2610	314/909	105/302			chrX	TogoVar
DNASE1L2_chr16_2231444_2243711	2237214	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01891.hp2 HG02145.hp2 others(31): Show HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0003 a0001c0001t0001g0003 a0001c0001t0002g0003	34	414	0.0821	0	c.234 others(5): Show c.234-4G>A		DNASE1L2	ENSG00000167968.13	transcript	ENST00000320700.10	protein_coding	3/6						chr16	TogoVar
DNASE1L3_chr3_58187257_58215972	58193442	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	372	0.0027	0	c.705 others(5): Show c.705-3C>T		DNASE1L3	ENSG00000163687.14	transcript	ENST00000394549.7	protein_coding	6/7						chr3	TogoVar
DNASE1L3_chr3_58187257_58215972	58200992	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(110): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00733.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02129.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18985.hp2 NA18988.hp2 NA18994.hp1 NA19001.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0031 others(88): Show a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0124 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0004g0221 a0001c0001t0008g0262 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0004g0237	113	372	0.3038	0	c.546 others(5): Show c.546+5G>T		DNASE1L3	ENSG00000163687.14	transcript	ENST00000394549.7	protein_coding	5/7						chr3	TogoVar
DNASE1L3_chr3_58187257_58215972	58208309	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	372	0.0027	0	c.142 others(5): Show c.142-3C>T		DNASE1L3	ENSG00000163687.14	transcript	ENST00000394549.7	protein_coding	1/7						chr3	TogoVar
DNASE1_chr16_3649691_3663095	3656047	CCAGAGGG others(49): Show CCAGAGGGGTCCCCTATGGCCCCCGCCACTGGGACCTTTTGTTTCTTCAA TCCAGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00544.hp1 HG00544.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0033 a0011c0012t0001g0033	1	440	0.0023	-56	c.237 others(66): Show c.237-54_238delCAGAGGGGTCCCCTATGGCCCCCGCCACTGGGACC TTTTGTTTCTTCAATCCAGGG	p.Asp others(4): Show p.Asp80fs	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding	4/9		237/849	79/282			chr16	TogoVar
DNASE1_chr16_3649691_3663095	3656633	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19043.hp1 NA20300.hp2 NA19030.hp2 NA19043.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0017 a0002c0002t0001g0024	3	440	0.0068	0	c.321 others(5): Show c.321-5C>T		DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding	4/8						chr16	TogoVar
DNASE2B_chr1_84393484_84420018	84408431	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG03041.hp2 HG02280.hp1 HG03041.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0112 a0001c0010t0001g0113 a0001c0010t0001g0112 a0001c0010t0001g0113	2	426	0.0047	0	c.304 others(5): Show c.304-6C>T		DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	2/5						chr1	TogoVar
DNASE2B_chr1_84393484_84420018	84412545	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00639.hp2 HG01106.hp2 others(34): Show HG00140.hp1 HG00639.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01952.hp1 HG01981.hp2 HG02040.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 NA18942.hp1 NA18945.hp1 NA19004.hp2 NA19043.hp1 NA19057.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0008c0015 a0001c0004 a0008c0015	a0001c0004t0001 a0008c0015t0001 a0001c0004t0001 a0008c0015t0001	a0001c0004t0001g0004 a0001c0004t0001g0023 a0001c0004t0001g0045 others(11): Show a0001c0004t0001g0004 a0001c0004t0001g0023 a0001c0004t0001g0045 a0001c0004t0001g0090 a0001c0004t0001g0104 a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0142 a0008c0015t0001g0091	37	426	0.0869	0	c.744 others(3): Show c.744C>T	p.Asp others(6): Show p.Asp248Asp	DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	5/6	825/1317	744/1086	248/361			chr1	TogoVar
DNASE2B_chr1_84393484_84420018	84414521	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	426	0.0024	0	c.746 others(5): Show c.746-7A>G		DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	5/5						chr1	TogoVar
DND1_chr5_140665794_140678576	140671758	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 NA18522.hp1 HG02280.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	2	378	0.0053	0	c.605 others(5): Show c.605-8T>C		DND1	ENSG00000256453.2	transcript	ENST00000542735.2	protein_coding	3/3						chr5	TogoVar
DNER_chr2_229352629_229719555	229447545	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG00741.hp1 HG00735.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0046 a0001c0002t0003g0174 a0001c0001t0001g0046 a0001c0002t0003g0174	2	176	0.0114	0	c.126 others(6): Show c.1262-5C>T		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	7/12						chr2	TogoVar
DNHD1_chr11_6492280_6577020	6497334	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18988.hp2 NA18988.hp2	a0066 a0066	a0066c0065 a0066c0065	a0066c0065t0001 a0066c0065t0001	a0066c0065t0001g0335 a0066c0065t0001g0335	1	342	0.0029	0	c.-52 others(6): Show c.-529+3G>T		DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	1/42						chr11	TogoVar
DNHD1_chr11_6492280_6577020	6508876	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(38): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02055.hp1 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp2 HG03098.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03834.hp1 HG06807.hp1 NA18942.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18968.hp2 NA18982.hp1 NA19030.hp1 NA19083.hp2 NA20129.hp1 NA20805.hp2	a0006 a0007 a0011 others(11): Show a0006 a0007 a0011 a0019 a0020 a0022 a0029 a0049 a0050 a0051 a0052 a0053 a0054 a0055	a0006c0008 a0006c0034 a0007c0009 others(15): Show a0006c0008 a0006c0034 a0007c0009 a0007c0080 a0007c0084 a0011c0007 a0011c0076 a0019c0022 a0020c0023 a0022c0016 a0029c0026 a0049c0085 a0050c0079 a0051c0081 a0052c0082 a0053c0083 a0054c0078 a0055c0077	a0006c0008t0001 a0006c0034t0001 a0007c0009t0001 others(16): Show a0006c0008t0001 a0006c0034t0001 a0007c0009t0001 a0007c0009t0007 a0007c0080t0001 a0007c0084t0006 a0011c0007t0001 a0011c0076t0001 a0019c0022t0001 a0020c0023t0001 a0022c0016t0001 a0029c0026t0001 a0049c0085t0001 a0050c0079t0001 a0051c0081t0001 a0052c0082t0001 a0053c0083t0001 a0054c0078t0001 a0055c0077t0001	a0006c0008t0001g0010 a0006c0008t0001g0237 a0006c0008t0001g0238 others(38): Show a0006c0008t0001g0010 a0006c0008t0001g0237 a0006c0008t0001g0238 a0006c0008t0001g0241 a0006c0008t0001g0243 a0006c0008t0001g0244 a0006c0034t0001g0009 a0006c0034t0001g0239 a0007c0009t0001g0225 a0007c0009t0001g0228 a0007c0009t0001g0229 a0007c0009t0001g0230 a0007c0009t0001g0231 a0007c0009t0007g0234 a0007c0080t0001g0242 a0007c0084t0006g0227 a0011c0007t0001g0211 a0011c0007t0001g0216 a0011c0007t0001g0218 a0011c0007t0001g0221 a0011c0007t0001g0222 a0011c0007t0001g0223 a0011c0076t0001g0217 a0019c0022t0001g0214 a0019c0022t0001g0215 a0019c0022t0001g0226 a0020c0023t0001g0224 a0020c0023t0001g0232 a0020c0023t0001g0233 a0022c0016t0001g0252 a0022c0016t0001g0253 a0022c0016t0001g0254 a0029c0026t0001g0257 a0029c0026t0001g0258 a0049c0085t0001g0240 a0050c0079t0001g0236 a0051c0081t0001g0235 a0052c0082t0001g0220 a0053c0083t0001g0212 a0054c0078t0001g0213 a0055c0077t0001g0219	41	342	0.1199	0	c.921 others(5): Show c.921-4A>G		DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	4/42						chr11	TogoVar
DNHD1_chr11_6492280_6577020	6538808	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18962.hp2 NA18962.hp2	a0090 a0090	a0090c0110 a0090c0110	a0090c0110t0002 a0090c0110t0002	a0090c0110t0002g0040 a0090c0110t0002g0040	1	342	0.0029	0	c.332 others(4): Show c.3323G>A	p.Arg others(7): Show p.Arg1108His	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	16/43	3903/14876	3323/14262	1108/4753			chr11	TogoVar
DNHD1_chr11_6492280_6577020	6548938	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19083.hp2 NA19083.hp2	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0223 a0011c0007t0001g0223	1	342	0.0029	0	c.738 others(6): Show c.7387+5G>C		DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	24/42						chr11	TogoVar
DNHD1_chr11_6492280_6577020	6556680	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19080.hp2 NA19080.hp2	a0073 a0073	a0073c0094 a0073c0094	a0073c0094t0008 a0073c0094t0008	a0073c0094t0008g0073 a0073c0094t0008g0073	1	342	0.0029	0	c.738 others(6): Show c.7388-3T>C		DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	24/42						chr11	TogoVar
DNHD1_chr11_6492280_6577020	6558479	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0275 a0002c0002t0005g0275	1	342	0.0029	0	c.900 others(6): Show c.9003-6C>T		DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	25/42						chr11	TogoVar

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