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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Select column to sort.

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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	status	chr	external
DST_chr6_56452996_56959830	56477338	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp2 homoSapiens_chm13v2.hp1 HG02683.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0032 a0001c0005t0001g0080 a0001c0005t0001g0032 a0001c0005t0001g0080	2	84	0.0238	0	c.216 others(7): Show c.21675+7G>A		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	91/103					chr6	TogoVar
DST_chr6_56452996_56959830	56560422	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02895.hp1 HG02895.hp1	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0001 a0030c0043t0001	a0030c0043t0001g0023 a0030c0043t0001g0023	1	84	0.0119	0	c.143 others(5): Show c.14312C>T	p.Ser others(7): Show p.Ser4771Leu	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	58/104	14555/24709	14312/23457	4771/7818		chr6	TogoVar
DST_chr6_56452996_56959830	56562133	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00741.hp1 HG00741.hp2 others(25): Show HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01109.hp1 HG01358.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA19043.hp1 NA19062.hp1 NA19066.hp2	a0002 a0003 a0004 others(14): Show a0002 a0003 a0004 a0009 a0013 a0014 a0015 a0019 a0021 a0027 a0028 a0029 a0030 a0031 a0033 a0039 a0044	a0002c0002 a0003c0004 a0004c0003 others(15): Show a0002c0002 a0003c0004 a0004c0003 a0009c0016 a0009c0056 a0013c0013 a0014c0011 a0015c0012 a0019c0047 a0021c0017 a0027c0024 a0028c0025 a0029c0026 a0030c0043 a0031c0054 a0033c0042 a0039c0041 a0044c0033	a0002c0002t0001 a0003c0004t0001 a0004c0003t0001 others(16): Show a0002c0002t0001 a0003c0004t0001 a0004c0003t0001 a0004c0003t0004 a0009c0016t0001 a0009c0056t0001 a0013c0013t0001 a0014c0011t0001 a0015c0012t0001 a0019c0047t0001 a0021c0017t0001 a0027c0024t0001 a0028c0025t0001 a0029c0026t0001 a0030c0043t0001 a0031c0054t0001 a0033c0042t0001 a0039c0041t0001 a0044c0033t0001	a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 others(25): Show a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0077 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0031 a0003c0004t0001g0061 a0004c0003t0001g0008 a0004c0003t0001g0051 a0004c0003t0004g0078 a0004c0003t0004g0081 a0009c0016t0001g0060 a0009c0056t0001g0016 a0013c0013t0001g0076 a0014c0011t0001g0075 a0015c0012t0001g0062 a0019c0047t0001g0050 a0021c0017t0001g0068 a0027c0024t0001g0006 a0028c0025t0001g0038 a0029c0026t0001g0057 a0030c0043t0001g0023 a0031c0054t0001g0028 a0033c0042t0001g0053 a0039c0041t0001g0041 a0044c0033t0001g0037	28	84	0.3333	0	c.140 others(7): Show c.14068+5G>A		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	56/103					chr6	TogoVar
DST_chr6_56452996_56959830	56562206	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG02055.hp2 HG02451.hp2 others(10): Show HG01069.hp1 HG02055.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03486.hp2 NA18522.hp1 NA19043.hp1	a0002 a0003 a0009 others(2): Show a0002 a0003 a0009 a0013 a0014	a0002c0002 a0003c0004 a0009c0016 others(3): Show a0002c0002 a0003c0004 a0009c0016 a0009c0056 a0013c0013 a0014c0011	a0002c0002t0001 a0003c0004t0001 a0009c0016t0001 others(3): Show a0002c0002t0001 a0003c0004t0001 a0009c0016t0001 a0009c0056t0001 a0013c0013t0001 a0014c0011t0001	a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 others(10): Show a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0077 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0031 a0003c0004t0001g0061 a0009c0016t0001g0060 a0009c0056t0001g0016 a0013c0013t0001g0076 a0014c0011t0001g0075	13	84	0.1548	0	c.140 others(7): Show c.14006-6T>C		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	55/103					chr6	TogoVar
DST_chr6_56452996_56959830	56570016	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	84	0.0119	0	c.137 others(7): Show c.13722-4G>A		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	53/103					chr6	TogoVar
DST_chr6_56452996_56959830	56601440	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp1 HG02809.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0001 a0033c0042t0001	a0033c0042t0001g0053 a0033c0042t0001g0053	1	84	0.0119	0	c.115 others(7): Show c.11541+3T>G		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	44/103					chr6	TogoVar
DST_chr6_56452996_56959830	56624631	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG03516.hp1 HG02280.hp1 HG03516.hp1	a0015 a0031 a0015 a0031	a0015c0012 a0031c0054 a0015c0012 a0031c0054	a0015c0012t0001 a0031c0054t0001 a0015c0012t0001 a0031c0054t0001	a0015c0012t0001g0062 a0031c0054t0001g0028 a0015c0012t0001g0062 a0031c0054t0001g0028	2	84	0.0238	0	c.483 others(6): Show c.4831-3C>A		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	35/103					chr6	TogoVar
DST_chr6_56452996_56959830	56634464	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02622.hp2 HG03041.hp1 HG03098.hp2 others(2): Show HG02622.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 NA18522.hp1	a0003 a0014 a0003 a0014	a0003c0004 a0014c0011 a0003c0004 a0014c0011	a0003c0004t0001 a0014c0011t0001 a0003c0004t0001 a0014c0011t0001	a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0031 others(2): Show a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0031 a0003c0004t0001g0061 a0014c0011t0001g0075	5	84	0.0595	0	c.349 others(4): Show c.3492C>T	p.Asn others(7): Show p.Asn1164Asn	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	26/104	3735/24709	3492/23457	1164/7818		chr6	TogoVar
DST_chr6_56452996_56959830	56640063	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp1 NA20129.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0027 a0020c0022t0001g0027	1	84	0.0119	0	c.249 others(6): Show c.2491-6C>T		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	18/103					chr6	TogoVar
DST_chr6_56609597_56647889	56624631	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG03516.hp1 HG02280.hp2 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0067 a0002c0005t0001g0068 a0002c0005t0001g0067 a0002c0005t0001g0068	2	326	0.0061	0	c.322 others(6): Show c.3220-3C>A		DST	ENSG00000151914.22	transcript	ENST00000370765.11	protein_coding	21/23					chr6	TogoVar
DST_chr6_56609597_56647889	56634464	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02622.hp2 HG03041.hp2 HG03098.hp2 others(2): Show HG02622.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 NA18522.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0019 a0005c0007t0003g0059 a0005c0007t0003g0060 others(1): Show a0005c0007t0003g0019 a0005c0007t0003g0059 a0005c0007t0003g0060 a0005c0007t0003g0061	5	326	0.0153	0	c.188 others(4): Show c.1881C>T	p.Asn others(6): Show p.Asn627Asn	DST	ENSG00000151914.22	transcript	ENST00000370765.11	protein_coding	12/24	1982/8971	1881/7950	627/2649		chr6	TogoVar
DST_chr6_56609597_56647889	56640063	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp2 NA20129.hp2	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0001 a0027c0023t0001	a0027c0023t0001g0066 a0027c0023t0001g0066	1	326	0.0031	0	c.880 others(5): Show c.880-6C>T		DST	ENSG00000151914.22	transcript	ENST00000370765.11	protein_coding	4/23					chr6	TogoVar
DTHD1_chr4_36276616_36352511	36295038	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02040.hp1 HG02040.hp1	a0020 a0020	a0020c0039 a0020c0039	a0020c0039t0009 a0020c0039t0009	a0020c0039t0009g0060 a0020c0039t0009g0060	1	308	0.0033	0	c.164 others(4): Show c.1642C>T	p.Arg others(6): Show p.Arg548Trp	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	5/10	1785/6551	1642/2721	548/906		chr4	TogoVar
DTL_chr1_212030748_212110013	212047144	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG03471.hp1 HG03471.hp2 others(2): Show HG02572.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 others(2): Show a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094	5	364	0.0137	0	c.278 others(5): Show c.278-7T>C		DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	3/14					chr1	TogoVar
DTNA_chr18_34705298_34896844	34875406	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02922.hp2 NA19030.hp2 HG02723.hp2 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0001 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0033 a0001c0001t0007g0031 a0001c0001t0012g0007 a0001c0001t0001g0033 a0001c0001t0007g0031 a0001c0001t0012g0007	3	112	0.0268	0	c.190 others(6): Show c.1903+8G>A		DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	18/22					chr18	TogoVar
DTNBP1_chr6_15517807_15668028	15523217	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp1 HG01515.hp1 HG01516.hp1 others(1): Show HG00280.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0007 a0003c0003t0002 a0003c0003t0007	a0003c0003t0002g0190 a0003c0003t0002g0201 a0003c0003t0002g0206 others(1): Show a0003c0003t0002g0190 a0003c0003t0002g0201 a0003c0003t0002g0206 a0003c0003t0007g0309	4	314	0.0127	0	c.814 others(3): Show c.814C>T	p.Pro others(6): Show p.Pro272Ser	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	10/10	973/1383	814/1056	272/351		chr6	TogoVar
DTNBP1_chr6_15517807_15668028	15593088	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp2 HG00609.hp2 others(93): Show HG00408.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA19007.hp1 NA19011.hp2 NA19054.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA20300.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0004c0004t0001 a0001c0001t0001 a0001c0001t0006 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025 others(93): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0006g0052 a0004c0004t0001g0236 a0004c0004t0001g0250 a0004c0004t0001g0286	96	314	0.3057	1	c.489 others(6): Show c.489-8dupT		DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	6/9					chr6	TogoVar
DTNBP1_chr6_15517807_15668028	15615406	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp2 HG00544.hp2 others(68): Show HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01175.hp2 HG01256.hp2 HG01346.hp2 HG01433.hp1 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02683.hp2 HG03041.hp1 HG03490.hp2 HG03669.hp1 HG03831.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18991.hp1 NA18993.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(68): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0285 a0001c0001t0003g0292 a0001c0001t0006g0052	71	314	0.2261	0	c.356 others(5): Show c.356-7C>T		DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	5/9					chr6	TogoVar
DTNB_chr2_25372243_25678577	25379286	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	168	0.0060	0	c.29 others(5): Show c.29+4A>T		DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	20/20					chr2	TogoVar
DTNB_chr2_25372243_25678577	25531474	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0060 a0004c0004t0001g0060	1	168	0.0060	0	c.100 others(4): Show c.1000G>A	p.Val others(6): Show p.Val334Ile	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/21	1193/2417	1000/1884	334/627		chr2	TogoVar
DTWD1_chr15_49616048_49661232	49634801	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0061 a0001c0001t0015g0061	1	342	0.0029	0	c.667 others(5): Show c.667+7A>C		DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	4/4					chr15	TogoVar
DTWD1_chr15_49616048_49661232	49643306	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(82): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02615.hp2 HG02683.hp2 HG02970.hp1 HG03041.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0068 a0005c0004t0010	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0037 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0002g0086 a0001c0001t0004g0124 a0001c0001t0008g0001 a0001c0001t0008g0038 a0001c0001t0010g0007 a0001c0001t0010g0115 a0001c0001t0011g0007 a0001c0001t0011g0107 a0001c0001t0021g0008 a0001c0001t0055g0109 a0001c0001t0056g0040 a0001c0001t0057g0001 a0001c0001t0062g0111 a0001c0001t0063g0100 a0001c0001t0065g0001 a0001c0001t0068g0007 a0005c0004t0010g0099	85	342	0.2485	1	c.668 others(6): Show c.668-6dupT		DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	4/4				INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD1_chr15_49616048_49661232	49643306	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(7): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG02735.hp2 HG03704.hp2 HG03942.hp1 NA18612.hp1 NA18962.hp2 NA18964.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0039	a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0003g0028 others(6): Show a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0003g0028 a0001c0001t0003g0069 a0001c0001t0004g0126 a0001c0001t0009g0062 a0001c0001t0012g0028 a0001c0001t0019g0094 a0001c0001t0039g0031	10	342	0.0292	-1	c.668 others(6): Show c.668-6delT		DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	4/4				INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD1_chr15_49616048_49661232	49643306	CTTTTTTT others(1): Show CTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18747.hp2 NA18942.hp2 NA18946.hp1 others(3): Show NA18747.hp2 NA18942.hp2 NA18946.hp1 NA19006.hp2 NA19070.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0064 a0001c0001t0015 a0001c0001t0064	a0001c0001t0015g0016 a0001c0001t0015g0061 a0001c0001t0064g0063 a0001c0001t0015g0016 a0001c0001t0015g0061 a0001c0001t0064g0063	6	342	0.0175	-8	c.668 others(20): Show c.668-13_668-6delTTTTTTTT		DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	4/4				INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD2_chr5_118831074_118993547	118848216	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0032	1	242	0.0041	0	c.600 others(3): Show c.600G>A	p.Val others(6): Show p.Val200Val	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	5/6	636/5776	600/897	200/298		chr5	TogoVar
DTX1_chr12_113051730_113103025	113093533	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00733.hp2 HG01243.hp2 others(11): Show HG00642.hp1 HG00733.hp2 HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0012t0005	a0001c0001t0004g0039 a0001c0003t0001g0025 a0001c0003t0001g0251 others(11): Show a0001c0001t0004g0039 a0001c0003t0001g0025 a0001c0003t0001g0251 a0001c0003t0001g0289 a0001c0003t0002g0055 a0001c0003t0002g0119 a0001c0003t0002g0121 a0001c0003t0002g0124 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0131 a0001c0003t0002g0304 a0001c0012t0005g0065	14	338	0.0414	0	c.100 others(6): Show c.1004-6C>G		DTX1	ENSG00000135144.8	transcript	ENST00000548759.2	protein_coding	4/9					chr12	TogoVar
DTX1_chr12_113051730_113103025	113093705	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	338	0.0030	0	c.116 others(6): Show c.1165+5G>A		DTX1	ENSG00000135144.8	transcript	ENST00000548759.2	protein_coding	5/9					chr12	TogoVar
DTX1_chr12_113051730_113103025	113095319	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(274): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0002c0005 a0003c0009 a0003c0013 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0003t0001 a0001c0003t0002 a0001c0004t0005 a0001c0007t0001 a0001c0012t0005 a0002c0005t0001 a0002c0005t0002 a0003c0009t0001 a0003c0013t0001 a0005c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(247): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0006g0005 a0001c0001t0006g0164 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0007g0232 a0001c0001t0011g0014 a0001c0001t0014g0255 a0001c0001t0016g0130 a0001c0001t0017g0189 a0001c0001t0018g0169 a0001c0001t0019g0088 a0001c0001t0022g0190 a0001c0001t0024g0286 a0001c0001t0026g0277 a0001c0003t0001g0025 a0001c0003t0001g0251 a0001c0003t0001g0289 a0001c0003t0002g0055 a0001c0003t0002g0119 a0001c0003t0002g0121 a0001c0003t0002g0124 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0131 a0001c0003t0002g0304 a0001c0004t0005g0011 a0001c0004t0005g0063 a0001c0004t0005g0064 a0001c0004t0005g0066 a0001c0004t0005g0067 a0001c0007t0001g0030 a0001c0007t0001g0247 a0001c0012t0005g0065 a0002c0005t0001g0272 a0002c0005t0001g0273 a0002c0005t0001g0274 a0002c0005t0002g0192 a0003c0009t0001g0080 a0003c0013t0001g0034 a0005c0014t0001g0275	277	338	0.8195	0	c.154 others(6): Show c.1549-6C>T		DTX1	ENSG00000135144.8	transcript	ENST00000548759.2	protein_coding	8/9					chr12	TogoVar
DTX1_chr12_113051730_113103025	113095320	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	338	0.0030	0	c.154 others(6): Show c.1549-5T>G		DTX1	ENSG00000135144.8	transcript	ENST00000548759.2	protein_coding	8/9					chr12	TogoVar
DTX1_chr12_113051730_113103025	113096707	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02647.hp2 HG01891.hp1 HG02647.hp2	a0003 a0003	a0003c0009 a0003c0013 a0003c0009 a0003c0013	a0003c0009t0001 a0003c0013t0001 a0003c0009t0001 a0003c0013t0001	a0003c0009t0001g0080 a0003c0013t0001g0034 a0003c0009t0001g0080 a0003c0013t0001g0034	2	338	0.0059	0	c.163 others(6): Show c.1639-8C>G		DTX1	ENSG00000135144.8	transcript	ENST00000548759.2	protein_coding	9/9					chr12	TogoVar
DTX2_chr7_76456709_76510991	76483152	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0006 a0001c0023t0006	a0001c0023t0006g0023 a0001c0023t0006g0023	1	280	0.0036	0	c.908 others(5): Show c.908+5C>T		DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10					chr7	TogoVar
DTX2_chr7_76456709_76510991	76500441	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(120): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18947.hp1 NA18952.hp1 NA18960.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19007.hp2 NA19043.hp1 NA19060.hp2 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0014	a0002c0002 a0002c0007 a0002c0008 others(19): Show a0002c0002 a0002c0007 a0002c0008 a0002c0011 a0002c0017 a0002c0020 a0002c0028 a0002c0029 a0002c0032 a0003c0004 a0003c0005 a0004c0006 a0004c0024 a0005c0025 a0005c0026 a0005c0033 a0007c0012 a0008c0014 a0009c0015 a0010c0030 a0011c0019 a0014c0016	a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 others(22): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0007t0001 a0002c0008t0001 a0002c0008t0004 a0002c0011t0003 a0002c0017t0001 a0002c0020t0009 a0002c0028t0001 a0002c0029t0001 a0002c0032t0001 a0003c0004t0001 a0003c0005t0001 a0004c0006t0001 a0004c0024t0001 a0005c0025t0001 a0005c0026t0001 a0005c0033t0001 a0007c0012t0001 a0008c0014t0001 a0009c0015t0001 a0010c0030t0003 a0011c0019t0001 a0014c0016t0001	a0002c0002t0001g0004 a0002c0002t0001g0125 a0002c0002t0001g0126 others(119): Show a0002c0002t0001g0004 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0163 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0005g0006 a0002c0002t0005g0274 a0002c0002t0007g0201 a0002c0007t0001g0185 a0002c0007t0001g0259 a0002c0007t0001g0260 a0002c0007t0001g0268 a0002c0007t0001g0270 a0002c0007t0001g0271 a0002c0007t0001g0272 a0002c0007t0001g0275 a0002c0007t0001g0276 a0002c0008t0001g0229 a0002c0008t0001g0230 a0002c0008t0004g0132 a0002c0008t0004g0133 a0002c0008t0004g0134 a0002c0011t0003g0264 a0002c0011t0003g0265 a0002c0017t0001g0188 a0002c0020t0009g0011 a0002c0028t0001g0258 a0002c0029t0001g0005 a0002c0032t0001g0256 a0003c0004t0001g0189 a0003c0004t0001g0234 a0003c0004t0001g0235 a0003c0004t0001g0236 a0003c0004t0001g0237 a0003c0004t0001g0238 a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0241 a0003c0004t0001g0242 a0003c0004t0001g0243 a0003c0004t0001g0244 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0252 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0001g0257 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0005t0001g0013 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0016 a0003c0005t0001g0017 a0003c0005t0001g0018 a0003c0005t0001g0019 a0003c0005t0001g0020 a0003c0005t0001g0021 a0003c0005t0001g0022 a0003c0005t0001g0024 a0003c0005t0001g0025 a0003c0005t0001g0026 a0004c0006t0001g0115 a0004c0006t0001g0117 a0004c0006t0001g0118 a0004c0006t0001g0119 a0004c0006t0001g0120 a0004c0006t0001g0121 a0004c0006t0001g0122 a0004c0006t0001g0123 a0004c0006t0001g0124 a0004c0024t0001g0159 a0005c0025t0001g0143 a0005c0026t0001g0269 a0005c0033t0001g0233 a0007c0012t0001g0232 a0007c0012t0001g0245 a0008c0014t0001g0210 a0009c0015t0001g0191 a0010c0030t0003g0263 a0011c0019t0001g0027 a0014c0016t0001g0227	123	280	0.4393	0	c.115 others(4): Show c.1151G>A	p.Gly others(6): Show p.Gly384Glu	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	7/11	1533/2641	1151/1869	384/622		chr7	TogoVar
DTX2_chr7_76456709_76510991	76503421	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp2 HG02080.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0164 a0005c0009t0002g0164	1	280	0.0036	0	c.139 others(6): Show c.1390-5G>C		DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	8/10					chr7	TogoVar
DTX2_chr7_76456709_76510991	76505989	A A	G G	splice_region_variant splice_region_variant	LOW	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0009 a0002c0020t0009	a0002c0020t0009g0011 a0002c0020t0009g0011	1	280	0.0036	0	c.38 others(4): Show c.388A>G		DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	11/11					chr7	TogoVar
DTX3_chr12_57599824_57614802	57608514	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	418	0.0024	0	c.751 others(5): Show c.751-6T>G		DTX3	ENSG00000178498.16	transcript	ENST00000337737.8	protein_coding	5/6					chr12	TogoVar
DTX4_chr11_59167132_59213588	59172805	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp2 HG00438.hp1 HG00621.hp1 others(116): Show HG00140.hp2 HG00438.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18978.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0002 a0001c0005 a0001c0006 others(4): Show a0001c0002 a0001c0005 a0001c0006 a0002c0019 a0004c0017 a0005c0018 a0009c0009	a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 others(22): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0043 a0001c0005t0001 a0001c0005t0038 a0001c0006t0001 a0001c0006t0009 a0002c0019t0042 a0004c0017t0032 a0005c0018t0008 a0009c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0009 others(74): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0045 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0008g0041 a0001c0002t0008g0042 a0001c0002t0008g0157 a0001c0002t0008g0165 a0001c0002t0008g0167 a0001c0002t0008g0169 a0001c0002t0008g0181 a0001c0002t0008g0187 a0001c0002t0008g0188 a0001c0002t0008g0218 a0001c0002t0008g0223 a0001c0002t0009g0001 a0001c0002t0009g0023 a0001c0002t0009g0155 a0001c0002t0009g0159 a0001c0002t0009g0160 a0001c0002t0009g0168 a0001c0002t0016g0024 a0001c0002t0016g0041 a0001c0002t0019g0156 a0001c0002t0019g0174 a0001c0002t0019g0185 a0001c0002t0025g0216 a0001c0002t0025g0221 a0001c0002t0026g0182 a0001c0002t0026g0190 a0001c0002t0027g0046 a0001c0002t0033g0180 a0001c0002t0034g0001 a0001c0002t0035g0001 a0001c0002t0036g0177 a0001c0002t0037g0001 a0001c0002t0039g0224 a0001c0002t0040g0197 a0001c0002t0041g0001 a0001c0002t0043g0151 a0001c0005t0001g0009 a0001c0005t0038g0001 a0001c0006t0001g0040 a0001c0006t0001g0163 a0001c0006t0001g0172 a0001c0006t0001g0179 a0001c0006t0009g0040 a0002c0019t0042g0226 a0004c0017t0032g0152 a0005c0018t0008g0166 a0009c0009t0001g0001	119	390	0.3051	0	c.210 others(3): Show c.210G>T	p.Thr others(5): Show p.Thr70Thr	DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding	1/9	674/6003	210/1860	70/619		chr11	TogoVar
DTX4_chr11_59167132_59213588	59172809	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02896.hp2 HG02922.hp1 others(3): Show HG02451.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0057 others(1): Show a0001c0001t0022 a0001c0001t0023 a0001c0001t0057 a0001c0001t0059	a0001c0001t0022g0025 a0001c0001t0022g0047 a0001c0001t0022g0048 others(3): Show a0001c0001t0022g0025 a0001c0001t0022g0047 a0001c0001t0022g0048 a0001c0001t0023g0025 a0001c0001t0057g0050 a0001c0001t0059g0049	6	390	0.0154	0	c.211 others(5): Show c.211+3G>A		DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding	1/8					chr11	TogoVar
DTYMK_chr2_241670747_241691815	241678446	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	420	0.0024	0	c.528 others(5): Show c.528+6A>G		DTYMK	ENSG00000168393.13	transcript	ENST00000305784.7	protein_coding	4/4					chr2	TogoVar
DUOX1_chr15_45124994_45170574	45134142	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0006 a0001c0036t0006	a0001c0036t0006g0164 a0001c0036t0006g0164	1	386	0.0026	0	c.143 others(5): Show c.143-3C>A		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	3/33					chr15	TogoVar
DUOX1_chr15_45124994_45170574	45135290	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02735.hp1 HG02738.hp1 HG03195.hp1 others(1): Show HG02735.hp1 HG02738.hp1 HG03195.hp1 HG03834.hp1	a0006 a0010 a0006 a0010	a0006c0012 a0010c0045 a0006c0012 a0010c0045	a0006c0012t0003 a0006c0012t0005 a0010c0045t0006 a0006c0012t0003 a0006c0012t0005 a0010c0045t0006	a0006c0012t0003g0139 a0006c0012t0003g0141 a0006c0012t0005g0138 others(1): Show a0006c0012t0003g0139 a0006c0012t0003g0141 a0006c0012t0005g0138 a0010c0045t0006g0348	4	386	0.0104	0	c.494 others(3): Show c.494C>T	p.Pro others(6): Show p.Pro165Leu	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	5/34	648/5483	494/4656	165/1551		chr15	TogoVar
DUOX1_chr15_45124994_45170574	45138019	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0112 a0002c0002t0005g0112	1	386	0.0026	0	c.111 others(6): Show c.1113+5G>A		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	10/33					chr15	TogoVar
DUOX1_chr15_45124994_45170574	45139607	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp1 HG02109.hp1 HG06807.hp1 HG01255.hp1 HG02109.hp1 HG06807.hp1	a0002 a0014 a0015 a0002 a0014 a0015	a0002c0023 a0014c0021 a0015c0022 a0002c0023 a0014c0021 a0015c0022	a0002c0023t0003 a0014c0021t0003 a0015c0022t0006 a0002c0023t0003 a0014c0021t0003 a0015c0022t0006	a0002c0023t0003g0353 a0014c0021t0003g0352 a0015c0022t0006g0163 a0002c0023t0003g0353 a0014c0021t0003g0352 a0015c0022t0006g0163	3	386	0.0078	0	c.138 others(6): Show c.1389+8G>A		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	12/33					chr15	TogoVar
DUOX1_chr15_45124994_45170574	45142111	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01255.hp1 HG02109.hp1 HG02717.hp1 others(1): Show HG01255.hp1 HG02109.hp1 HG02717.hp1 HG06807.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0015	a0001c0027 a0002c0023 a0014c0021 others(1): Show a0001c0027 a0002c0023 a0014c0021 a0015c0022	a0001c0027t0003 a0002c0023t0003 a0014c0021t0003 others(1): Show a0001c0027t0003 a0002c0023t0003 a0014c0021t0003 a0015c0022t0006	a0001c0027t0003g0100 a0002c0023t0003g0353 a0014c0021t0003g0352 others(1): Show a0001c0027t0003g0100 a0002c0023t0003g0353 a0014c0021t0003g0352 a0015c0022t0006g0163	4	386	0.0104	0	c.182 others(4): Show c.1821G>A	p.Leu others(6): Show p.Leu607Leu	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	15/34	1975/5483	1821/4656	607/1551		chr15	TogoVar
DUOX1_chr15_45124994_45170574	45142115	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0278 a0001c0001t0004g0278	1	386	0.0026	0	c.182 others(6): Show c.1822+3A>G		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	15/33					chr15	TogoVar
DUOX1_chr15_45124994_45170574	45151117	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	386	0.0026	0	c.288 others(6): Show c.2889-6T>C		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	22/33					chr15	TogoVar
DUOX1_chr15_45124994_45170574	45160834	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(125): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0007 a0008 a0013 a0014 a0016 a0021	a0001c0008 a0001c0014 a0001c0027 others(11): Show a0001c0008 a0001c0014 a0001c0027 a0002c0002 a0002c0006 a0002c0018 a0002c0023 a0006c0012 a0007c0016 a0008c0013 a0013c0041 a0014c0021 a0016c0034 a0021c0028	a0001c0008t0003 a0001c0008t0008 a0001c0014t0003 others(15): Show a0001c0008t0003 a0001c0008t0008 a0001c0014t0003 a0001c0027t0003 a0002c0002t0003 a0002c0002t0005 a0002c0006t0003 a0002c0006t0005 a0002c0018t0005 a0002c0023t0003 a0006c0012t0003 a0006c0012t0005 a0007c0016t0003 a0008c0013t0003 a0013c0041t0005 a0014c0021t0003 a0016c0034t0003 a0021c0028t0009	a0001c0008t0003g0078 a0001c0008t0003g0079 a0001c0008t0003g0080 others(111): Show a0001c0008t0003g0078 a0001c0008t0003g0079 a0001c0008t0003g0080 a0001c0008t0003g0082 a0001c0008t0003g0083 a0001c0008t0008g0081 a0001c0014t0003g0345 a0001c0014t0003g0347 a0001c0027t0003g0100 a0002c0002t0003g0002 a0002c0002t0003g0023 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0067 a0002c0002t0003g0150 a0002c0002t0003g0212 a0002c0002t0003g0236 a0002c0002t0003g0248 a0002c0002t0003g0253 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0305 a0002c0002t0003g0307 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0335 a0002c0002t0003g0350 a0002c0002t0005g0001 a0002c0002t0005g0003 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0021 a0002c0002t0005g0038 a0002c0002t0005g0042 a0002c0002t0005g0043 a0002c0002t0005g0044 a0002c0002t0005g0045 a0002c0002t0005g0046 a0002c0002t0005g0047 a0002c0002t0005g0048 a0002c0002t0005g0049 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0102 a0002c0002t0005g0109 a0002c0002t0005g0110 a0002c0002t0005g0112 a0002c0002t0005g0113 a0002c0002t0005g0116 a0002c0002t0005g0117 a0002c0002t0005g0118 a0002c0002t0005g0120 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0126 a0002c0002t0005g0127 a0002c0002t0005g0128 a0002c0002t0005g0130 a0002c0002t0005g0131 a0002c0002t0005g0133 a0002c0002t0005g0134 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0155 a0002c0002t0005g0169 a0002c0002t0005g0189 a0002c0002t0005g0199 a0002c0002t0005g0318 a0002c0002t0005g0324 a0002c0006t0003g0180 a0002c0006t0003g0344 a0002c0006t0003g0346 a0002c0006t0005g0152 a0002c0006t0005g0153 a0002c0006t0005g0170 a0002c0006t0005g0171 a0002c0018t0005g0173 a0002c0023t0003g0353 a0006c0012t0003g0139 a0006c0012t0003g0141 a0006c0012t0005g0138 a0007c0016t0003g0188 a0007c0016t0003g0314 a0008c0013t0003g0065 a0008c0013t0003g0066 a0013c0041t0005g0123 a0014c0021t0003g0352 a0016c0034t0003g0029 a0021c0028t0009g0028	128	386	0.3316	0	c.370 others(6): Show c.3703-3T>C		DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	28/33					chr15	TogoVar
DUOX2_chr15_45087650_45119172	45095821	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG03041.hp2 HG03516.hp1 HG02922.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0029 a0001c0013t0002g0115 a0001c0013t0002g0029 a0001c0013t0002g0115	3	280	0.0107	0	c.408 others(6): Show c.4080+7G>A		DUOX2	ENSG00000140279.13	transcript	ENST00000389039.11	protein_coding	30/33					chr15	TogoVar
DUOX2_chr15_45087650_45119172	45099378	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0119 a0003c0002t0005g0119	1	280	0.0036	0	c.351 others(6): Show c.3515+5G>T		DUOX2	ENSG00000140279.13	transcript	ENST00000389039.11	protein_coding	26/33					chr15	TogoVar
DUOX2_chr15_45087650_45119172	45104365	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19075.hp1 NA19075.hp1	a0015 a0015	a0015c0043 a0015c0043	a0015c0043t0001 a0015c0043t0001	a0015c0043t0001g0075 a0015c0043t0001g0075	1	280	0.0036	0	c.233 others(4): Show c.2335G>A	p.Val others(6): Show p.Val779Met	DUOX2	ENSG00000140279.13	transcript	ENST00000389039.11	protein_coding	19/34	2549/6361	2335/4647	779/1548		chr15	TogoVar
DUOX2_chr15_45087650_45119172	45111769	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03579.hp2	a0009 a0009	a0009c0011 a0009c0039 a0009c0011 a0009c0039	a0009c0011t0003 a0009c0039t0003 a0009c0011t0003 a0009c0039t0003	a0009c0011t0003g0033 a0009c0011t0003g0132 a0009c0039t0003g0133 a0009c0011t0003g0033 a0009c0011t0003g0132 a0009c0039t0003g0133	4	280	0.0143	0	c.512 others(3): Show c.512T>C	p.Leu others(6): Show p.Leu171Pro	DUOX2	ENSG00000140279.13	transcript	ENST00000389039.11	protein_coding	5/34	726/6361	512/4647	171/1548		chr15	TogoVar

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