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
DIABLO_chr12_122202668_122231052	122216877	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	380	0.0026	0	c.316 others(5): Show c.316-8A>G		DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding	3/5					chr12	TogoVar
DIAPH1_chr5_141510021_141624000	141527699	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(72): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01243.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02132.hp2 HG02273.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18941.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18969.hp2 NA18974.hp1 NA18980.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0012 a0015	a0001c0001 a0001c0002 a0002c0005 others(5): Show a0001c0001 a0001c0002 a0002c0005 a0003c0003 a0004c0006 a0006c0010 a0012c0017 a0015c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0002t0003 a0002c0005t0005 a0003c0003t0001 a0004c0006t0001 a0006c0010t0001 a0012c0017t0001 a0015c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 others(70): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0302 a0001c0001t0003g0173 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0007g0319 a0001c0001t0016g0328 a0001c0002t0003g0161 a0001c0002t0003g0298 a0002c0005t0005g0007 a0003c0003t0001g0280 a0004c0006t0001g0109 a0004c0006t0001g0116 a0006c0010t0001g0040 a0006c0010t0001g0176 a0012c0017t0001g0056 a0015c0019t0001g0079	75	336	0.2232	1	c.314 others(7): Show c.3149-3dupT		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	23/27					chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141527699	T T	TAA TAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG01168.hp2 HG01169.hp2 others(6): Show HG00438.hp1 HG01168.hp2 HG01169.hp2 HG02145.hp2 HG02602.hp2 HG03195.hp2 HG03471.hp1 NA18998.hp1 NA19007.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0002c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0004t0003 a0003c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0003g0165 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0003g0165 a0002c0004t0003g0168 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0285	9	336	0.0268	2	c.314 others(15): Show c.3149-4_3149-3dupTT		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	23/27					chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141527699	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00639.hp2 HG01069.hp1 others(8): Show HG00280.hp2 HG00639.hp2 HG01069.hp1 HG01123.hp2 HG01891.hp2 HG03195.hp1 HG03486.hp2 HG03834.hp2 NA18983.hp1 NA19006.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0088 others(8): Show a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0212 a0001c0001t0001g0237 a0001c0001t0001g0277 a0001c0001t0002g0144 a0001c0001t0003g0135	11	336	0.0327	-1	c.314 others(7): Show c.3149-3delT		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	23/27					chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141618790	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	336	0.0030	0	c.117 others(5): Show c.117+8T>A		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27					chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG02922.hp1 HG00609.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0075 a0001c0001t0003g0107 a0001c0001t0002g0075 a0001c0001t0003g0107	2	147	0.0136	-1	c.733 others(6): Show c.733-3delT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96948937	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	147	0.0068	0	c.151 others(4): Show c.1512C>T	p.Phe others(6): Show p.Phe504Phe	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	15/27	1729/9203	1512/3306	504/1101		chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97141660	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0008 a0001c0001t0002g0009	2	147	0.0136	0	c.259 others(6): Show c.2590-5C>T		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26					chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59810926	A A	ATTAC ATTAC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0014 a0002c0003 a0002c0004 a0002c0009 a0003c0008 a0004c0007 a0005c0012 a0006c0011 a0007c0015 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0009 a0001c0005t0002 a0001c0006t0002 a0001c0006t0003 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0009t0001 a0003c0008t0001 a0004c0007t0002 a0004c0007t0006 a0005c0012t0002 a0006c0011t0002 a0007c0015t0001 a0008c0016t0005	a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0059 others(196): Show a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0005g0070 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0005g0099 a0001c0001t0005g0124 a0001c0001t0006g0087 a0001c0001t0006g0109 a0001c0001t0006g0207 a0001c0001t0007g0131 a0001c0001t0007g0133 a0001c0001t0007g0134 a0001c0001t0007g0198 a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0001t0009g0092 a0001c0001t0011g0116 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0146 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0009g0170 a0001c0005t0002g0062 a0001c0005t0002g0063 a0001c0005t0002g0064 a0001c0005t0002g0089 a0001c0006t0002g0066 a0001c0006t0002g0086 a0001c0006t0002g0153 a0001c0006t0003g0010 a0001c0010t0003g0007 a0001c0013t0001g0204 a0001c0014t0001g0144 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0044 a0002c0003t0002g0046 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0056 a0002c0003t0002g0156 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0004t0001g0036 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0004t0001g0057 a0002c0004t0002g0045 a0002c0004t0005g0039 a0002c0009t0001g0043 a0003c0008t0001g0194 a0003c0008t0001g0195 a0004c0007t0002g0050 a0004c0007t0006g0174 a0005c0012t0002g0127 a0006c0011t0002g0097 a0007c0015t0001g0206 a0008c0016t0005g0055	199	208	0.9567	4	c.302 others(17): Show c.3028-4_3028-3insGTAA		DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	24/27					chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59861400	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp1 HG03492.hp2 HG04184.hp1 HG03491.hp1 HG03492.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0014	3	208	0.0144	0	c.273 others(6): Show c.2737+7G>A		DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	22/27					chr13	TogoVar
DICER1_chr14_95081228_95162529	95099771	C C	CACACACA others(3): Show CACACACACAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02486.hp2 HG02922.hp1 others(3): Show HG02257.hp1 HG02486.hp2 HG02922.hp1 HG03098.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0015 a0001c0003t0010 a0001c0003t0015	a0001c0003t0010g0249 a0001c0003t0010g0251 a0001c0003t0010g0252 others(1): Show a0001c0003t0010g0249 a0001c0003t0010g0251 a0001c0003t0010g0252 a0001c0003t0015g0013	6	306	0.0196	10	c.420 others(23): Show c.4206+8_4206+9insTTGTGTGTGT		DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	22/26					chr14	TogoVar
DICER1_chr14_95081228_95162529	95113228	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0032 a0001c0015t0032	a0001c0015t0032g0188 a0001c0015t0032g0188	1	306	0.0033	0	c.190 others(6): Show c.1908-4A>G		DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	11/26					chr14	TogoVar
DICER1_chr14_95081228_95162529	95117758	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	306	0.0033	0	c.137 others(6): Show c.1377-4T>G		DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/26					chr14	TogoVar
DICER1_chr14_95081228_95162529	95124663	TAGTATCT others(18): Show TAGTATCTACAAAAAAAAGAAAAGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19058.hp2 NA19058.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0002 a0008c0018t0002	a0008c0018t0002g0204 a0008c0018t0002g0204	1	306	0.0033	-25	c.904 others(35): Show c.904-20_908delTTCTTTTCTTTTTTTTGTAGATACT	p.Leu others(5): Show p.Leu303fs	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/27	1253/10384	904/5769	302/1922		chr14	TogoVar
DIDO1_chr20_62872743_62931505	62894810	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02015.hp2 NA18948.hp2 NA18962.hp2 HG02015.hp2 NA18948.hp2 NA18962.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0060 a0001c0012t0001g0068 a0001c0012t0001g0069 a0001c0012t0001g0060 a0001c0012t0001g0068 a0001c0012t0001g0069	3	320	0.0094	0	c.243 others(4): Show c.2436G>A	p.Glu others(6): Show p.Glu812Glu	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	10/16	2702/8479	2436/6723	812/2240		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62926430	ACCGCAGG ACCGCAGG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01952.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0024 a0025	a0001c0009 a0002c0002 a0003c0003 others(8): Show a0001c0009 a0002c0002 a0003c0003 a0003c0006 a0003c0019 a0003c0041 a0003c0042 a0003c0043 a0005c0005 a0024c0040 a0025c0039	a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 others(8): Show a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0019t0001 a0003c0041t0001 a0003c0042t0001 a0003c0043t0001 a0005c0005t0002 a0024c0040t0001 a0025c0039t0002	a0001c0009t0001g0024 a0002c0002t0001g0267 a0003c0003t0001g0021 others(55): Show a0001c0009t0001g0024 a0002c0002t0001g0267 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0235 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0243 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0268 a0003c0006t0001g0027 a0003c0006t0001g0028 a0003c0006t0001g0248 a0003c0006t0001g0249 a0003c0006t0001g0250 a0003c0006t0001g0252 a0003c0006t0001g0259 a0003c0019t0001g0236 a0003c0019t0001g0266 a0003c0041t0001g0242 a0003c0042t0001g0233 a0003c0043t0001g0234 a0005c0005t0002g0260 a0024c0040t0001g0244 a0025c0039t0002g0261	66	320	0.2063	-7	c.-20 others(20): Show c.-200+2_-200+8delCCTGCGG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15					chr20	TogoVar
DIMT1_chr5_62382254_62408905	62389055	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(100): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01261.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18972.hp2 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp2 NA18987.hp2 NA18989.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0014 others(77): Show a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0190 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0013g0214	103	404	0.2550	-1	c.900 others(6): Show c.900-4delT		DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	11/11					chr5	TogoVar
DIMT1_chr5_62382254_62408905	62402032	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(264): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.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 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0012 a0002c0004t0010	a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0045 others(158): Show a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0078 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0190 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0004g0005 a0001c0001t0004g0013 a0001c0001t0004g0024 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0104 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0131 a0001c0001t0005g0137 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0006g0019 a0001c0001t0006g0114 a0001c0001t0007g0187 a0001c0001t0007g0194 a0001c0001t0007g0196 a0001c0001t0008g0212 a0001c0001t0008g0213 a0001c0001t0009g0124 a0001c0001t0011g0128 a0001c0001t0013g0214 a0001c0002t0001g0022 a0001c0002t0012g0047 a0002c0004t0010g0132	267	404	0.6609	0	c.240 others(5): Show c.240+4G>A		DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	3/11					chr5	TogoVar
DIMT1_chr5_62382254_62408905	62403690	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0047 a0001c0002t0012g0047	1	404	0.0025	0	c.79+ others(4): Show c.79+4C>A		DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	1/11					chr5	TogoVar
DIP2A_chr21_46453891_46575015	46498841	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0283 a0001c0005t0004g0283	1	374	0.0027	0	c.655 others(5): Show c.655+8A>C		DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	5/37					chr21	TogoVar
DIP2A_chr21_46453891_46575015	46537441	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 NA19009.hp2 HG00558.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0256 a0001c0001t0002g0241 a0001c0001t0002g0256	2	374	0.0054	0	c.170 others(6): Show c.1708-5C>G		DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	14/37					chr21	TogoVar
DIP2A_chr21_46453891_46575015	46545960	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20805.hp1 NA20805.hp1	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0002 a0006c0034t0002	a0006c0034t0002g0227 a0006c0034t0002g0227	1	374	0.0027	0	c.239 others(4): Show c.2393C>T	p.Pro others(6): Show p.Pro798Leu	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	20/38	2634/7350	2393/4716	798/1571		chr21	TogoVar
DIP2A_chr21_46453891_46575015	46551626	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(277): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0021 a0001c0022 a0001c0023 a0001c0026 a0001c0027 a0001c0029 a0001c0030 a0001c0035 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0002c0009 a0002c0011 a0002c0019 a0002c0038 a0002c0039 a0003c0017 a0003c0018 a0003c0025 a0005c0037 a0008c0044 a0009c0028	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(57): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0002t0029 a0001c0003t0001 a0001c0003t0003 a0001c0003t0019 a0001c0003t0024 a0001c0004t0001 a0001c0004t0003 a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 a0001c0005t0017 a0001c0005t0018 a0001c0005t0019 a0001c0005t0020 a0001c0005t0021 a0001c0005t0027 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0012 a0001c0006t0014 a0001c0007t0005 a0001c0008t0001 a0001c0010t0003 a0001c0012t0012 a0001c0013t0015 a0001c0021t0001 a0001c0022t0001 a0001c0023t0004 a0001c0026t0003 a0001c0026t0010 a0001c0027t0004 a0001c0029t0001 a0001c0030t0026 a0001c0035t0001 a0001c0040t0003 a0001c0041t0003 a0001c0042t0003 a0001c0043t0003 a0001c0045t0003 a0002c0009t0006 a0002c0011t0004 a0002c0011t0016 a0002c0011t0023 a0002c0019t0006 a0002c0038t0022 a0002c0039t0006 a0003c0017t0001 a0003c0018t0009 a0003c0025t0001 a0005c0037t0006 a0008c0044t0003 a0009c0028t0009	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 others(277): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0004g0032 a0001c0001t0004g0053 a0001c0001t0004g0213 a0001c0001t0011g0365 a0001c0001t0011g0366 a0001c0001t0011g0368 a0001c0001t0011g0369 a0001c0001t0013g0136 a0001c0001t0013g0137 a0001c0001t0013g0138 a0001c0001t0013g0147 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0007g0069 a0001c0002t0007g0119 a0001c0002t0009g0047 a0001c0002t0029g0082 a0001c0003t0001g0333 a0001c0003t0003g0124 a0001c0003t0003g0290 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0300 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0315 a0001c0003t0003g0316 a0001c0003t0003g0323 a0001c0003t0003g0326 a0001c0003t0003g0327 a0001c0003t0003g0328 a0001c0003t0003g0329 a0001c0003t0003g0330 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0334 a0001c0003t0003g0335 a0001c0003t0003g0336 a0001c0003t0003g0337 a0001c0003t0003g0338 a0001c0003t0003g0340 a0001c0003t0003g0341 a0001c0003t0003g0344 a0001c0003t0003g0346 a0001c0003t0003g0348 a0001c0003t0003g0349 a0001c0003t0003g0350 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0359 a0001c0003t0003g0360 a0001c0003t0003g0361 a0001c0003t0003g0362 a0001c0003t0003g0363 a0001c0003t0003g0364 a0001c0003t0003g0370 a0001c0003t0003g0371 a0001c0003t0003g0372 a0001c0003t0019g0301 a0001c0003t0024g0307 a0001c0004t0001g0018 a0001c0004t0001g0021 a0001c0004t0001g0023 a0001c0004t0001g0031 a0001c0004t0001g0036 a0001c0004t0001g0039 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0066 a0001c0004t0001g0072 a0001c0004t0001g0074 a0001c0004t0001g0076 a0001c0004t0001g0080 a0001c0004t0001g0086 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0104 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0001g0118 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0001g0198 a0001c0004t0001g0228 a0001c0004t0003g0367 a0001c0005t0003g0291 a0001c0005t0003g0313 a0001c0005t0003g0319 a0001c0005t0003g0322 a0001c0005t0003g0343 a0001c0005t0003g0345 a0001c0005t0004g0275 a0001c0005t0004g0276 a0001c0005t0004g0277 a0001c0005t0004g0278 a0001c0005t0004g0280 a0001c0005t0004g0283 a0001c0005t0004g0284 a0001c0005t0004g0287 a0001c0005t0008g0002 a0001c0005t0008g0005 a0001c0005t0008g0006 a0001c0005t0008g0007 a0001c0005t0008g0009 a0001c0005t0008g0011 a0001c0005t0008g0012 a0001c0005t0008g0013 a0001c0005t0017g0008 a0001c0005t0017g0010 a0001c0005t0018g0314 a0001c0005t0018g0342 a0001c0005t0019g0320 a0001c0005t0020g0273 a0001c0005t0020g0281 a0001c0005t0021g0285 a0001c0005t0021g0286 a0001c0005t0027g0282 a0001c0006t0001g0178 a0001c0006t0001g0179 a0001c0006t0001g0180 a0001c0006t0004g0125 a0001c0006t0004g0145 a0001c0006t0004g0170 a0001c0006t0007g0134 a0001c0006t0007g0135 a0001c0006t0007g0142 a0001c0006t0007g0143 a0001c0006t0007g0171 a0001c0006t0007g0173 a0001c0006t0007g0177 a0001c0006t0012g0152 a0001c0006t0014g0150 a0001c0006t0014g0174 a0001c0006t0014g0175 a0001c0007t0005g0126 a0001c0007t0005g0128 a0001c0007t0005g0132 a0001c0007t0005g0133 a0001c0007t0005g0151 a0001c0007t0005g0153 a0001c0007t0005g0154 a0001c0007t0005g0155 a0001c0007t0005g0156 a0001c0007t0005g0157 a0001c0007t0005g0158 a0001c0007t0005g0159 a0001c0007t0005g0266 a0001c0008t0001g0055 a0001c0008t0001g0073 a0001c0008t0001g0088 a0001c0008t0001g0093 a0001c0010t0003g0288 a0001c0010t0003g0299 a0001c0010t0003g0317 a0001c0012t0012g0144 a0001c0012t0012g0146 a0001c0012t0012g0166 a0001c0013t0015g0148 a0001c0013t0015g0167 a0001c0013t0015g0172 a0001c0021t0001g0122 a0001c0021t0001g0123 a0001c0022t0001g0160 a0001c0022t0001g0176 a0001c0023t0004g0168 a0001c0023t0004g0169 a0001c0026t0003g0347 a0001c0026t0010g0318 a0001c0027t0004g0067 a0001c0027t0004g0274 a0001c0029t0001g0208 a0001c0030t0026g0165 a0001c0035t0001g0111 a0001c0040t0003g0358 a0001c0041t0003g0289 a0001c0042t0003g0325 a0001c0043t0003g0373 a0001c0045t0003g0321 a0002c0009t0006g0181 a0002c0009t0006g0183 a0002c0009t0006g0184 a0002c0009t0006g0186 a0002c0009t0006g0189 a0002c0009t0006g0191 a0002c0009t0006g0195 a0002c0011t0004g0030 a0002c0011t0016g0188 a0002c0011t0016g0192 a0002c0011t0023g0194 a0002c0019t0006g0187 a0002c0019t0006g0193 a0002c0019t0006g0196 a0002c0038t0022g0185 a0002c0039t0006g0190 a0003c0017t0001g0130 a0003c0017t0001g0131 a0003c0017t0001g0163 a0003c0018t0009g0149 a0003c0018t0009g0161 a0003c0018t0009g0162 a0003c0025t0001g0129 a0003c0025t0001g0164 a0005c0037t0006g0182 a0008c0044t0003g0324 a0009c0028t0009g0098	280	374	0.7487	0	c.284 others(6): Show c.2840-8G>A		DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	23/37					chr21	TogoVar
DIP2B_chr12_50499985_50753657	50741408	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp2 NA20905.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0004 a0008c0014t0004	a0008c0014t0004g0225 a0008c0014t0004g0225	1	284	0.0035	0	c.435 others(6): Show c.4355-8T>C		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	36/37					chr12	TogoVar
DIP2B_chr12_50499985_50753657	50741409	CTGTCAGA others(27): Show CTGTCAGAGCGTCATGATGCATTGTATGTGGTGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20905.hp2 NA20905.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0004 a0008c0014t0004	a0008c0014t0004g0225 a0008c0014t0004g0225	1	284	0.0035	-34	c.435 others(45): Show c.4355-6_4382delTGTCAGAGCGTCATGATGCATTGTATGTGGTGGG	p.His others(6): Show p.His1454fs	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	37/38		4355/4731	1452/1576		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50741417	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0180 a0001c0015t0004g0180	1	284	0.0035	0	c.435 others(4): Show c.4356G>A	p.Glu others(7): Show p.Glu1452Glu	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	37/38	4512/8705	4356/4731	1452/1576		chr12	TogoVar
DIP2C_chr10_269201_694668	286350	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0011 a0001c0018t0003g0011	1	88	0.0114	0	c.404 others(6): Show c.4045-3T>C		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	33/36					chr10	TogoVar
DIP2C_chr10_269201_694668	349326	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00597.hp2 HG00609.hp1 others(84): Show HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0010t0002 a0001c0011t0003 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0016t0009 a0001c0017t0002 a0001c0018t0003 a0001c0019t0006 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 others(84): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0003g0012 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0002t0003g0082 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0041 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0005t0001g0009 a0001c0005t0002g0010 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0087 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0060 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0009t0001g0007 a0001c0009t0003g0003 a0001c0010t0002g0001 a0001c0011t0003g0088 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0015t0002g0083 a0001c0016t0009g0073 a0001c0017t0002g0064 a0001c0018t0003g0011 a0001c0019t0006g0014 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0071	87	88	0.9886	0	c.310 others(6): Show c.3109+5A>G		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	25/36					chr10	TogoVar
DIP2C_chr10_269201_694668	423038	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18747.hp2 NA18970.hp1 NA19007.hp1 others(1): Show NA18747.hp2 NA18970.hp1 NA19007.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0053 others(1): Show a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0053 a0001c0003t0002g0065	4	88	0.0455	0	c.395 others(5): Show c.395-5C>A		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36					chr10	TogoVar
DIPK2B_chrX_45143373_45205876	45157886	GC GC	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0131 a0008c0010t0003g0131	1	307	0.0033	-1	c.500 others(4): Show c.500delG	p.Gly others(5): Show p.Gly167fs	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/5	550/4631	500/1302	167/433		chrX	TogoVar
DIRAS1_chr19_2709567_2726372	2717882	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(288): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18976.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0004t0003	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 others(81): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0002g0037 a0001c0001t0002g0057 a0001c0001t0002g0106 a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0004g0005 a0001c0001t0004g0042 a0001c0001t0004g0051 a0001c0001t0005g0022 a0001c0001t0005g0052 a0001c0001t0005g0071 a0001c0001t0005g0087 a0001c0001t0005g0095 a0001c0001t0006g0078 a0001c0001t0006g0088 a0001c0001t0006g0103 a0001c0001t0007g0014 a0001c0001t0007g0096 a0001c0001t0008g0011 a0001c0001t0008g0019 a0001c0001t0008g0089 a0001c0001t0009g0018 a0001c0001t0009g0020 a0001c0001t0010g0010 a0001c0001t0010g0041 a0001c0001t0011g0013 a0001c0001t0012g0024 a0001c0001t0013g0023 a0001c0001t0014g0016 a0001c0001t0015g0035 a0001c0001t0015g0053 a0001c0001t0016g0026 a0001c0001t0016g0074 a0001c0001t0017g0043 a0001c0001t0017g0055 a0001c0001t0018g0050 a0001c0001t0018g0102 a0001c0001t0019g0025 a0001c0001t0020g0039 a0001c0001t0021g0036 a0001c0001t0023g0031 a0001c0001t0024g0075 a0001c0001t0025g0044 a0001c0001t0026g0100 a0001c0001t0027g0045 a0001c0001t0028g0054 a0001c0001t0029g0076 a0001c0001t0030g0081 a0001c0001t0031g0046 a0001c0001t0032g0077 a0001c0001t0033g0047 a0001c0001t0039g0048 a0001c0001t0041g0097 a0001c0001t0042g0098 a0001c0001t0051g0079 a0001c0001t0052g0091 a0001c0001t0054g0109 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0002t0001g0068 a0001c0002t0001g0083 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0002g0086 a0001c0002t0005g0009 a0001c0002t0005g0082 a0001c0002t0007g0034 a0001c0002t0034g0084 a0001c0002t0035g0090 a0001c0002t0036g0093 a0001c0002t0043g0069 a0001c0002t0044g0104 a0001c0002t0045g0085 a0001c0002t0046g0092 a0001c0002t0047g0072 a0001c0002t0048g0070 a0001c0004t0003g0032	291	412	0.7063	0	c.-69 others(5): Show c.-69-7T>C		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding	1/1					chr19	TogoVar
DIS3L2_chr2_231956713_232342192	232024329	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0296 a0004c0019t0001g0296	1	304	0.0033	0	c.263 others(3): Show c.263C>T	p.Pro others(5): Show p.Pro88Leu	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	4/21	409/3366	263/2658	88/885		chr2	TogoVar
DIS3_chr13_72747169_72786900	72775212	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03688.hp2 HG03710.hp2 HG03688.hp2 HG03710.hp2	a0013 a0016 a0013 a0016	a0013c0020 a0016c0017 a0013c0020 a0016c0017	a0013c0020t0002 a0016c0017t0002 a0013c0020t0002 a0016c0017t0002	a0013c0020t0002g0200 a0016c0017t0002g0179 a0013c0020t0002g0200 a0016c0017t0002g0179	2	422	0.0047	0	c.986 others(3): Show c.986T>C	p.Met others(6): Show p.Met329Thr	DIS3	ENSG00000083520.15	transcript	ENST00000377767.9	protein_coding	6/21	1054/10571	986/2877	329/958		chr13	TogoVar
DIS3_chr13_72747169_72786900	72778386	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0078 a0003c0003t0078	a0003c0003t0078g0152 a0003c0003t0078g0152	1	422	0.0024	0	c.387 others(5): Show c.387-6A>G		DIS3	ENSG00000083520.15	transcript	ENST00000377767.9	protein_coding	2/20					chr13	TogoVar
DISC1_chr1_231621790_232046272	231795302	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG02155.hp2 HG02647.hp1 others(1): Show HG01496.hp2 HG02155.hp2 HG02647.hp1 HG03130.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0012 a0003c0007 others(1): Show a0001c0001 a0001c0012 a0003c0007 a0004c0006	a0001c0001t0012 a0001c0012t0017 a0003c0007t0006 others(1): Show a0001c0001t0012 a0001c0012t0017 a0003c0007t0006 a0004c0006t0005	a0001c0001t0012g0018 a0001c0012t0017g0039 a0003c0007t0006g0021 others(1): Show a0001c0001t0012g0018 a0001c0012t0017g0039 a0003c0007t0006g0021 a0004c0006t0005g0011	4	40	0.1000	0	c.168 others(6): Show c.1689+6T>C		DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	7/12					chr1	TogoVar
DISP2_chr15_40353219_40383621	40358447	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG03098.hp1 HG02109.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0023 a0001c0002t0043g0023	2	396	0.0051	0	c.119 others(5): Show c.119+7C>T		DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	1/7					chr15	TogoVar
DISP2_chr15_40353219_40383621	40363626	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18947.hp1 NA18974.hp2 NA18947.hp1 NA18974.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0065 a0009c0019t0066 a0009c0019t0065 a0009c0019t0066	a0009c0019t0065g0001 a0009c0019t0066g0024 a0009c0019t0065g0001 a0009c0019t0066g0024	2	396	0.0051	0	c.121 others(3): Show c.121A>G	p.Thr others(5): Show p.Thr41Ala	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	2/8	224/12612	121/4206	41/1401		chr15	TogoVar
DISP2_chr15_40353219_40383621	40365624	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0073 a0010c0016t0073	a0010c0016t0073g0030 a0010c0016t0073g0030	1	396	0.0025	0	c.848 others(5): Show c.848-4G>A		DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	6/7					chr15	TogoVar
DISP3_chr1_11474155_11542551	11517457	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	358	0.0028	0	c.175 others(6): Show c.1750-6C>T		DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	6/20					chr1	TogoVar
DISP3_chr1_11474155_11542551	11525172	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0293 a0004c0004t0004g0293	1	358	0.0028	0	c.247 others(6): Show c.2477-4G>A		DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	11/20					chr1	TogoVar
DISP3_chr1_11474155_11542551	11535004	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0081 a0001c0001t0003g0082	2	358	0.0056	0	c.353 others(6): Show c.3536-7C>T		DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	18/20					chr1	TogoVar
DKK1_chr10_52309281_52322657	52316550	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	410	0.0024	0	c.548 others(5): Show c.548-4G>T		DKK1	ENSG00000107984.10	transcript	ENST00000373970.4	protein_coding	3/3					chr10	TogoVar
DKK1_chr10_52309281_52322657	52316551	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp1 HG02071.hp1 HG02258.hp2 others(5): Show HG01256.hp1 HG02071.hp1 HG02258.hp2 HG02572.hp2 HG02976.hp1 HG03540.hp1 HG03710.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0009 a0001c0001t0002g0012 others(1): Show a0001c0001t0001g0012 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0024	8	410	0.0195	0	c.548 others(5): Show c.548-3T>C		DKK1	ENSG00000107984.10	transcript	ENST00000373970.4	protein_coding	3/3					chr10	TogoVar
DKK2_chr4_106916802_107041313	106921802	T T	C C	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00642.hp1 HG01069.hp2 others(51): Show HG00140.hp2 HG00642.hp1 HG01069.hp2 HG01074.hp2 HG01496.hp1 HG02040.hp1 HG02083.hp1 HG02257.hp2 HG02280.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18981.hp2 NA18984.hp2 NA18991.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA20129.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0007 a0001c0001 a0001c0004 a0006c0007	a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0004t0002 a0006c0007t0002	a0001c0001t0002g0001 a0001c0001t0002g0044 a0001c0001t0002g0045 others(50): Show a0001c0001t0002g0001 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0010g0011 a0001c0001t0010g0024 a0001c0001t0013g0002 a0001c0001t0014g0003 a0001c0001t0018g0076 a0001c0001t0023g0215 a0001c0004t0002g0035 a0006c0007t0002g0208	54	218	0.2477	0	c.21 others(5): Show c.2152A>G		DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	4/4					chr4	TogoVar
DKK3_chr11_11958036_12013626	11968392	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	416	0.0024	0	c.528 others(5): Show c.528+3G>A		DKK3	ENSG00000050165.19	transcript	ENST00000683431.1	protein_coding	4/6					chr11	TogoVar
DKKL1_chr19_49358877_49380116	49365503	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0126 a0003c0003t0001g0126	1	396	0.0025	0	c.184 others(5): Show c.184-6C>A		DKKL1	ENSG00000104901.7	transcript	ENST00000221498.7	protein_coding	2/4					chr19	TogoVar
DKKL1_chr19_49358877_49380116	49365790	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02257.hp2 HG02630.hp2 others(5): Show HG02109.hp2 HG02257.hp2 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0042 others(2): Show a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044	8	396	0.0202	0	c.325 others(5): Show c.325-3C>T		DKKL1	ENSG00000104901.7	transcript	ENST00000221498.7	protein_coding	3/4					chr19	TogoVar
DKKL1_chr19_49358877_49380116	49365794	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01884.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0009	a0002c0002 a0005c0005 a0008c0007 others(1): Show a0002c0002 a0005c0005 a0008c0007 a0009c0011	a0002c0002t0001 a0002c0002t0002 a0005c0005t0001 others(2): Show a0002c0002t0001 a0002c0002t0002 a0005c0005t0001 a0008c0007t0001 a0009c0011t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 others(42): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0109 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0002g0041 a0005c0005t0001g0002 a0005c0005t0001g0009 a0005c0005t0001g0013 a0005c0005t0001g0036 a0005c0005t0001g0054 a0005c0005t0001g0055 a0005c0005t0001g0105 a0005c0005t0001g0106 a0005c0005t0001g0110 a0005c0005t0001g0130 a0008c0007t0001g0004 a0009c0011t0001g0104	138	396	0.3485	0	c.326 others(3): Show c.326T>G	p.Met others(6): Show p.Met109Arg	DKKL1	ENSG00000104901.7	transcript	ENST00000221498.7	protein_coding	4/5	448/939	326/729	109/242		chr19	TogoVar
DLAT_chr11_112020408_112069404	112045858	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0293 a0002c0002t0002g0293	1	336	0.0030	0	c.129 others(6): Show c.1291-5T>C		DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding	9/13					chr11	TogoVar
DLC1_chr8_13078361_13519851	13092831	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	212	0.0047	0	c.352 others(6): Show c.3527-6G>A		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	12/17					chr8	TogoVar

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