Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DGKH_chr13_42043648_42247896	42110587	A A	ATCATTCA others(9): Show ATCATTCATTCATTCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(71): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00738.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18954.hp2 NA18961.hp2 NA18966.hp1 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0024 a0003c0007 a0003c0011 a0004c0009 a0013c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(44): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0001t0064 a0001c0001t0066 a0001c0001t0074 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0099 a0001c0002t0001 a0001c0002t0075 a0001c0003t0006 a0001c0003t0008 a0001c0003t0013 a0001c0003t0046 a0001c0003t0105 a0001c0003t0111 a0001c0004t0001 a0001c0004t0013 a0001c0004t0014 a0001c0004t0026 a0001c0004t0041 a0001c0004t0122 a0001c0006t0017 a0001c0006t0082 a0001c0013t0001 a0001c0024t0029 a0003c0007t0009 a0003c0011t0039 a0004c0009t0004 a0004c0009t0022 a0004c0009t0107 a0013c0015t0040	a0001c0001t0001g0130 a0001c0001t0001g0234 a0001c0001t0001g0249 others(71): Show a0001c0001t0001g0130 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0003g0264 a0001c0001t0005g0068 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0227 a0001c0001t0012g0229 a0001c0001t0015g0036 a0001c0001t0015g0163 a0001c0001t0015g0164 a0001c0001t0015g0166 a0001c0001t0016g0002 a0001c0001t0016g0037 a0001c0001t0016g0286 a0001c0001t0022g0263 a0001c0001t0029g0034 a0001c0001t0031g0289 a0001c0001t0039g0230 a0001c0001t0064g0267 a0001c0001t0066g0272 a0001c0001t0074g0208 a0001c0001t0079g0280 a0001c0001t0080g0057 a0001c0001t0081g0167 a0001c0001t0085g0266 a0001c0001t0087g0121 a0001c0001t0088g0260 a0001c0001t0089g0226 a0001c0001t0090g0250 a0001c0001t0091g0236 a0001c0001t0099g0315 a0001c0002t0001g0251 a0001c0002t0075g0176 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0295 a0001c0003t0006g0304 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0008g0214 a0001c0003t0013g0009 a0001c0003t0013g0015 a0001c0003t0046g0077 a0001c0003t0105g0132 a0001c0003t0111g0064 a0001c0004t0001g0008 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0013g0209 a0001c0004t0013g0210 a0001c0004t0014g0115 a0001c0004t0026g0028 a0001c0004t0041g0165 a0001c0004t0122g0061 a0001c0006t0017g0285 a0001c0006t0017g0309 a0001c0006t0082g0016 a0001c0013t0001g0231 a0001c0024t0029g0033 a0003c0007t0009g0246 a0003c0011t0039g0256 a0004c0009t0004g0194 a0004c0009t0022g0025 a0004c0009t0107g0193 a0013c0015t0040g0005	74	316	0.2342	16	c.193 others(35): Show c.193-16869_193-16854dupATTCATTCATTCATTC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42121066	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG01192.hp2 others(14): Show HG00621.hp1 HG00738.hp2 HG01192.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02109.hp2 HG02165.hp1 HG02622.hp1 HG02895.hp2 HG03098.hp1 HG03471.hp1 HG03834.hp1 HG04115.hp2 NA18959.hp2 NA18988.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0001c0001t0066 a0001c0002t0102 a0001c0004t0011 a0001c0004t0013 a0001c0004t0028 a0001c0004t0053 a0001c0008t0008 a0001c0008t0097 a0005c0012t0077 a0005c0012t0078	a0001c0001t0001g0130 a0001c0001t0001g0249 a0001c0001t0003g0170 others(14): Show a0001c0001t0001g0130 a0001c0001t0001g0249 a0001c0001t0003g0170 a0001c0001t0003g0264 a0001c0001t0005g0222 a0001c0001t0022g0263 a0001c0001t0066g0272 a0001c0002t0102g0190 a0001c0004t0011g0142 a0001c0004t0013g0209 a0001c0004t0013g0210 a0001c0004t0028g0287 a0001c0004t0053g0259 a0001c0008t0008g0022 a0001c0008t0097g0195 a0005c0012t0077g0092 a0005c0012t0078g0091	17	316	0.0538	16	c.193 others(33): Show c.193-6387_193-6372dupCACACACACACACACA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42135507	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00741.hp2 others(19): Show HG00438.hp2 HG00597.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01256.hp1 HG01346.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02602.hp1 HG02976.hp1 HG03942.hp1 HG04199.hp1 NA18965.hp2 NA18980.hp2 NA18993.hp1 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0026	a0001c0001t0002 a0001c0001t0033 a0001c0001t0034 others(12): Show a0001c0001t0002 a0001c0001t0033 a0001c0001t0034 a0001c0001t0065 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0002t0001 a0001c0003t0038 a0001c0003t0059 a0001c0003t0113 a0001c0003t0114 a0001c0006t0017 a0001c0026t0048	a0001c0001t0002g0041 a0001c0001t0002g0139 a0001c0001t0002g0148 others(19): Show a0001c0001t0002g0041 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0216 a0001c0001t0002g0257 a0001c0001t0002g0297 a0001c0001t0033g0040 a0001c0001t0033g0145 a0001c0001t0034g0039 a0001c0001t0065g0046 a0001c0001t0067g0101 a0001c0001t0071g0096 a0001c0001t0072g0102 a0001c0001t0073g0095 a0001c0002t0001g0283 a0001c0003t0038g0133 a0001c0003t0059g0311 a0001c0003t0113g0029 a0001c0003t0114g0202 a0001c0006t0017g0285 a0001c0026t0048g0240	22	316	0.0696	16	c.384 others(33): Show c.384+5876_384+5877insAAAAAAAAAAAAAAGA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0027 a0001c0003 a0001c0027	a0001c0003t0118 a0001c0027t0116 a0001c0003t0118 a0001c0027t0116	a0001c0003t0118g0310 a0001c0027t0116g0211 a0001c0003t0118g0310 a0001c0027t0116g0211	2	316	0.0063	16	c.623 others(28): Show c.623-18_623-3dupTTTTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42176586	C C	CATACTTT others(9): Show CATACTTTTGAAAGAGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00735.hp1 others(40): Show HG00438.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02145.hp2 HG02148.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03486.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18979.hp1 NA18981.hp2 NA18988.hp2 NA18999.hp1 NA19043.hp2 NA19085.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0001c0006 a0001c0013 others(2): Show a0001c0003 a0001c0006 a0001c0013 a0002c0022 a0008c0023	a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 others(23): Show a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0059 a0001c0003t0109 a0001c0003t0110 a0001c0003t0111 a0001c0003t0113 a0001c0003t0114 a0001c0003t0115 a0001c0003t0123 a0001c0006t0001 a0001c0006t0004 a0001c0006t0017 a0001c0006t0022 a0001c0006t0036 a0001c0006t0082 a0001c0013t0001 a0002c0022t0008 a0008c0023t0112	a0001c0003t0008g0214 a0001c0003t0010g0017 a0001c0003t0010g0161 others(40): Show a0001c0003t0008g0214 a0001c0003t0010g0017 a0001c0003t0010g0161 a0001c0003t0010g0197 a0001c0003t0010g0198 a0001c0003t0010g0200 a0001c0003t0010g0279 a0001c0003t0013g0009 a0001c0003t0013g0015 a0001c0003t0025g0138 a0001c0003t0025g0186 a0001c0003t0038g0133 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0146 a0001c0003t0059g0311 a0001c0003t0109g0080 a0001c0003t0110g0135 a0001c0003t0111g0064 a0001c0003t0113g0029 a0001c0003t0114g0202 a0001c0003t0115g0201 a0001c0003t0123g0238 a0001c0006t0001g0109 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0110 a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0017g0285 a0001c0006t0017g0309 a0001c0006t0022g0038 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0006t0082g0016 a0001c0013t0001g0231 a0002c0022t0008g0162 a0008c0023t0112g0147	43	316	0.1361	16	c.145 others(35): Show c.1453-1549_1453-1548insATACTTTTGAAAGAGT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	12/29			chr13	TogoVar
DGKH_chr13_42043648_42247896	42206975	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01517.hp2 others(10): Show HG00558.hp1 HG00639.hp2 HG01517.hp2 HG02056.hp2 HG02258.hp2 HG02698.hp1 HG02896.hp1 HG03654.hp2 HG04199.hp1 NA18942.hp1 NA18994.hp1 NA19058.hp1 NA19074.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0026 a0002c0005 a0004c0009 a0012c0030	a0001c0001t0031 a0001c0002t0030 a0001c0002t0092 others(7): Show a0001c0001t0031 a0001c0002t0030 a0001c0002t0092 a0001c0004t0026 a0001c0004t0122 a0001c0026t0048 a0002c0005t0001 a0002c0005t0007 a0004c0009t0107 a0012c0030t0019	a0001c0001t0031g0293 a0001c0002t0030g0006 a0001c0002t0092g0032 others(10): Show a0001c0001t0031g0293 a0001c0002t0030g0006 a0001c0002t0092g0032 a0001c0004t0026g0028 a0001c0004t0122g0061 a0001c0026t0048g0240 a0002c0005t0001g0105 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0007g0128 a0002c0005t0007g0136 a0004c0009t0107g0193 a0012c0030t0019g0088	13	316	0.0411	16	c.260 others(33): Show c.2601+865_2601+880dupCTTTCTTTCTTTCTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42207025	T T	TTCTTTCT others(9): Show TTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0288 a0001c0004t0020g0288	1	316	0.0032	16	c.260 others(33): Show c.2601+880_2601+881insCTTTCTTTTTCTTTCT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42207058	C C	CTTCTTTC others(9): Show CTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02896.hp2 HG02897.hp1 HG01975.hp1 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0009 a0003c0007t0009	a0003c0007t0009g0001 a0003c0007t0009g0244 a0003c0007t0009g0001 a0003c0007t0009g0244	3	316	0.0095	16	c.260 others(33): Show c.2601+915_2601+916insTTTCTTTCTTTCTTTC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42207062	C C	CTTCTTTC others(9): Show CTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0107 a0004c0009t0107	a0004c0009t0107g0193 a0004c0009t0107g0193	1	316	0.0032	16	c.260 others(33): Show c.2601+953_2601+968dupTTCTTTCTTTCTTTCT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42207693	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG02129.hp2 others(11): Show HG01106.hp1 HG01192.hp1 HG02129.hp2 HG02293.hp2 HG02602.hp1 HG02738.hp2 HG02895.hp2 HG03017.hp1 HG03654.hp1 NA18994.hp2 NA19011.hp1 NA19058.hp2 NA19063.hp2 NA19074.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0005c0012	a0001c0001t0002 a0001c0001t0033 a0001c0001t0069 others(7): Show a0001c0001t0002 a0001c0001t0033 a0001c0001t0069 a0001c0002t0042 a0001c0004t0014 a0001c0004t0054 a0001c0010t0050 a0001c0010t0056 a0001c0010t0057 a0005c0012t0078	a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 others(11): Show a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0297 a0001c0001t0033g0040 a0001c0001t0069g0042 a0001c0002t0042g0021 a0001c0004t0014g0115 a0001c0004t0054g0172 a0001c0010t0050g0301 a0001c0010t0056g0173 a0001c0010t0057g0273 a0005c0012t0078g0091	14	316	0.0443	16	c.260 others(35): Show c.2602-1265_2602-1264insATATATATATATATAT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137472266	A A	ATGTGTAT others(9): Show ATGTGTATATTTATGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02622.hp1 others(2): Show HG02258.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0012 a0001c0001 a0001c0007 a0002c0012	a0001c0001t0007 a0001c0007t0003 a0001c0007t0041 others(2): Show a0001c0001t0007 a0001c0007t0003 a0001c0007t0041 a0002c0012t0005 a0002c0012t0045	a0001c0001t0007g0010 a0001c0007t0003g0088 a0001c0007t0041g0073 others(2): Show a0001c0001t0007g0010 a0001c0007t0003g0088 a0001c0007t0041g0073 a0002c0012t0005g0084 a0002c0012t0045g0089	5	94	0.0532	16	c.237 others(35): Show c.2374-2648_2374-2647insCACATAAATATACACA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137472392	T T	TATTATGT others(9): Show TATTATGTATATGTACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02622.hp2 others(1): Show HG02258.hp2 HG02622.hp1 HG02622.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0012 a0001c0007 a0002c0012	a0001c0007t0003 a0001c0007t0041 a0002c0012t0005 others(1): Show a0001c0007t0003 a0001c0007t0041 a0002c0012t0005 a0002c0012t0045	a0001c0007t0003g0088 a0001c0007t0041g0073 a0002c0012t0005g0084 others(1): Show a0001c0007t0003g0088 a0001c0007t0041g0073 a0002c0012t0005g0084 a0002c0012t0045g0089	4	94	0.0426	16	c.237 others(35): Show c.2374-2774_2374-2773insTGTACATATACATAAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137609144	A A	ACCACCAC others(9): Show ACCACCACCACTACCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02895.hp2 others(3): Show HG01243.hp2 HG02486.hp2 HG02895.hp2 HG03225.hp1 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0002t0021 a0001c0003t0005 a0001c0004t0003 others(3): Show a0001c0002t0021 a0001c0003t0005 a0001c0004t0003 a0001c0004t0038 a0001c0008t0015 a0001c0008t0018	a0001c0002t0021g0009 a0001c0003t0005g0091 a0001c0004t0003g0077 others(3): Show a0001c0002t0021g0009 a0001c0003t0005g0091 a0001c0004t0003g0077 a0001c0004t0038g0069 a0001c0008t0015g0055 a0001c0008t0018g0054	6	94	0.0638	16	c.106 others(31): Show c.1069-81_1069-80insATGGTAGTGGTGGTGG	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	9/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0022 a0001c0008t0022	a0001c0008t0022g0026 a0001c0008t0022g0026	1	94	0.0106	16	c.993 others(33): Show c.993+1672_993+1673insAAAATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(9): Show ATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0070 a0001c0007t0003g0070	1	94	0.0106	16	c.993 others(33): Show c.993+1672_993+1673insAAAAAATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137638623	T T	TATATGTA others(9): Show TATATGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 homoSapiens_chm13v2.hp1 HG02451.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0049 a0001c0001t0002g0013 a0001c0001t0002g0049	2	94	0.0213	16	c.804 others(33): Show c.804+6848_804+6849insGTGTATATATACATAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137691798	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0039 a0001c0013t0039	a0001c0013t0039g0068 a0001c0013t0039g0068	1	94	0.0106	16	c.402 others(33): Show c.402-1812_402-1797dupAAAAAAAAAAAAAAAA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137691809	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02280.hp2 others(11): Show HG01243.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011	a0001c0001t0016 a0001c0001t0017 a0001c0001t0036 others(11): Show a0001c0001t0016 a0001c0001t0017 a0001c0001t0036 a0001c0002t0001 a0001c0002t0028 a0001c0004t0003 a0001c0004t0011 a0001c0004t0038 a0001c0006t0002 a0001c0006t0008 a0001c0006t0013 a0001c0007t0003 a0001c0009t0050 a0001c0011t0001	a0001c0001t0016g0005 a0001c0001t0017g0001 a0001c0001t0036g0004 others(11): Show a0001c0001t0016g0005 a0001c0001t0017g0001 a0001c0001t0036g0004 a0001c0002t0001g0018 a0001c0002t0028g0039 a0001c0004t0003g0076 a0001c0004t0011g0071 a0001c0004t0038g0069 a0001c0006t0002g0015 a0001c0006t0008g0030 a0001c0006t0013g0007 a0001c0007t0003g0088 a0001c0009t0050g0080 a0001c0011t0001g0040	14	94	0.1489	16	c.402 others(33): Show c.402-1808_402-1807insCAAAAAAAAAAAAAAA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137846134	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 homoSapiens_chm13v2.hp1 HG02895.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0003 a0001c0001t0002 a0001c0004t0003	a0001c0001t0002g0049 a0001c0004t0003g0077 a0001c0001t0002g0049 a0001c0004t0003g0077	2	94	0.0213	16	c.401 others(31): Show c.401+312_401+327dupGAGAGAGAGAGAGAGA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137846161	T T	TCTCTCTC others(9): Show TCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0087 a0001c0004t0010g0087	1	94	0.0106	16	c.401 others(31): Show c.401+300_401+301insTGAGAGAGAGAGAGAG	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGLUCY_chr14_91109073_91230632	91111200	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	216	0.0046	16	c.-31 others(27): Show c.-3165_-3164insTGTGTGTGTGTGTGTG	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding		2872		chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91157119	G G	GTGGATGG others(9): Show GTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0018 a0002c0002t0001g0019 a0001c0001t0001g0018 a0002c0002t0001g0019	2	216	0.0093	16	c.-81 others(31): Show c.-81-497_-81-482dupGATGGATGGATGGATG	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91181965	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp2 HG02886.hp1 others(4): Show HG01109.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG03453.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0026 a0001c0001t0001g0152 a0001c0001t0001g0216 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0152 a0001c0001t0001g0216 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172	7	216	0.0324	16	c.934 others(31): Show c.934+592_934+607dupATTTATTTATTTATTT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91213691	A A	ATTGTTTG others(9): Show ATTGTTTGTTTGTTTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00735.hp1 others(17): Show HG00280.hp1 HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG03704.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp2 NA18960.hp1 NA18984.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0003c0004t0003	a0001c0001t0001g0051 a0001c0001t0001g0079 a0001c0001t0001g0163 others(17): Show a0001c0001t0001g0051 a0001c0001t0001g0079 a0001c0001t0001g0163 a0002c0002t0001g0025 a0002c0002t0001g0040 a0002c0002t0001g0065 a0002c0002t0001g0071 a0002c0002t0001g0075 a0002c0002t0001g0100 a0002c0002t0001g0119 a0002c0002t0001g0124 a0003c0004t0001g0198 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0207 a0003c0004t0001g0210 a0003c0004t0001g0212 a0003c0004t0001g0214 a0003c0004t0001g0215 a0003c0004t0003g0077	20	216	0.0926	16	c.156 others(35): Show c.1565-1700_1565-1685dupTGTTTGTTTGTTTGTT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHCR24_chr1_54844627_54892195	54848142	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0010 a0001c0002t0005g0010	1	386	0.0026	16	c.40 others(27): Show c.4090_*4091insCACACACACACACACA	DHCR24	ENSG00000116133.13	transcript	ENST00000371269.9	protein_coding		1484		chr1	TogoVar
DHDDS_chr1_26427321_26476306	26431119	C C	CTAAATAA others(9): Show CTAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG02970.hp2 others(5): Show HG01243.hp1 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03540.hp2 HG04228.hp1 NA18998.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0157 a0001c0001t0005g0162 others(2): Show a0001c0001t0005g0002 a0001c0001t0005g0157 a0001c0001t0005g0162 a0001c0001t0005g0164 a0001c0001t0005g0165	8	314	0.0255	16	c.-13 others(27): Show c.-1313_-1312insTAAATAAATAAATAAA	DHDDS	ENSG00000117682.18	transcript	ENST00000236342.12	protein_coding		1201		chr1	TogoVar
DHFR_chr5_80621226_80659983	80634704	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00639.hp2 others(43): Show HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03942.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19079.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0048 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0048 a0001c0001t0051 a0001c0001t0058	a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0022 others(27): Show a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0022 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0006g0005 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0048g0186 a0001c0001t0051g0203 a0001c0001t0058g0229	46	376	0.1223	16	c.370 others(31): Show c.370-728_370-713dupGTGTGTGTGTGTGTGT	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	4/5			chr5	TogoVar
DHFR_chr5_80621226_80659983	80637285	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02922.hp2 HG03453.hp2 others(3): Show HG01070.hp2 HG02922.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0013 a0001c0001t0007g0083 a0001c0001t0016g0072 others(1): Show a0001c0001t0007g0013 a0001c0001t0007g0083 a0001c0001t0016g0072 a0001c0001t0016g0073	6	376	0.0160	16	c.369 others(31): Show c.369+582_369+597dupATATATATATATATAT	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	4/5			chr5	TogoVar
DHODH_chr16_72003744_72032659	72017770	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0130 a0002c0002t0003g0130	1	414	0.0024	16	c.517 others(31): Show c.517+667_517+682dupTTTTTTTTTTTTTTTT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHODH_chr16_72003744_72032659	72020335	A A	ATATATAT others(9): Show ATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0255 a0001c0001t0040g0255	1	414	0.0024	16	c.518 others(31): Show c.518-776_518-775insGTGTATATATATATAT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRS12_chr13_51762993_51809163	51775206	T T	TCTCCTAC others(9): Show TCTCCTACAGTATTCTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0221 a0003c0003t0001g0221	1	420	0.0024	16	c.364 others(33): Show c.364-1173_364-1172insGAGAATACTGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS13_chr17_28892781_28908079	28903671	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01109.hp2 others(14): Show HG00558.hp2 HG00597.hp1 HG01109.hp2 HG01346.hp1 HG01891.hp1 HG02523.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG06807.hp2 NA18952.hp2 NA18961.hp2 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19080.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0002t0002g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0002t0002g0003 a0001c0004t0001g0006 a0002c0003t0001g0004	17	412	0.0413	16	c.-72 others(25): Show c.-728_-727insGGAAGGAAGGAAGGAA	DHRS13	ENSG00000167536.14	transcript	ENST00000378895.9	protein_coding		593		chr17	TogoVar
DHRS1_chr14_24285598_24304780	24293573	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0004t0003 a0001c0009t0003	a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0027 others(13): Show a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0005g0018 a0001c0001t0006g0026 a0001c0001t0007g0039 a0001c0001t0008g0047 a0001c0004t0003g0011 a0001c0004t0003g0037 a0001c0009t0003g0043	86	414	0.2077	16	c.375 others(31): Show c.375-805_375-790dupATTTATTTATTTATTT	DHRS1	ENSG00000157379.14	transcript	ENST00000288111.12	protein_coding	4/8			chr14	TogoVar
DHRS3_chr1_12562910_12623210	12611934	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01891.hp2 others(5): Show HG00099.hp2 HG00621.hp2 HG01891.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG03834.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0078	a0001c0001t0003g0076 a0001c0001t0005g0240 a0001c0001t0021g0008 others(4): Show a0001c0001t0003g0076 a0001c0001t0005g0240 a0001c0001t0021g0008 a0001c0001t0021g0202 a0001c0001t0027g0225 a0001c0001t0028g0259 a0001c0001t0078g0270	8	376	0.0213	16	c.195 others(33): Show c.195+5204_195+5219dupATTTATTTATTTATTT	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	1/5			chr1	TogoVar
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	32	0.0313	16	c.665 others(31): Show c.665+441_665+456dupTTTTTTTTTTTTTTTT	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS7B_chr17_21121964_21196420	21138099	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG03195.hp2 HG02145.hp2 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0222 a0001c0001t0001g0362 a0001c0001t0001g0363	3	382	0.0079	16	c.20+ others(33): Show c.20+11109_20+11110insCACACACACACACACA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21138101	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03579.hp2 HG02698.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0327 a0001c0001t0001g0332	2	382	0.0052	16	c.20+ others(33): Show c.20+11126_20+11141dupCACACACACACACACA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21140479	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	382	0.0026	16	c.20+ others(33): Show c.20+13533_20+13548dupACACACACACACACAC	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21140538	A A	ACACACAC others(9): Show ACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02922.hp2 HG03195.hp2 others(1): Show HG01978.hp1 HG02922.hp2 HG03195.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0341 a0001c0001t0001g0362 others(1): Show a0001c0001t0001g0333 a0001c0001t0001g0341 a0001c0001t0001g0362 a0001c0001t0001g0363	4	382	0.0105	16	c.20+ others(33): Show c.20+13548_20+13549insACACACACACACACCC	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21164030	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG03195.hp2 HG01106.hp1 HG01261.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0328 a0001c0001t0001g0363 a0001c0001t0001g0289 a0001c0001t0001g0328 a0001c0001t0001g0363	3	382	0.0079	16	c.21- others(31): Show c.21-7987_21-7972dupTTTTTTTTTTTTTTTT	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7B_chr17_21121964_21196420	21187094	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02717.hp2 others(1): Show HG01884.hp1 HG02615.hp2 HG02717.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0197 a0001c0001t0001g0198 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199	4	382	0.0105	16	c.620 others(33): Show c.620-1613_620-1598dupTATATATATATATATA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7C_chr17_9766438_9796592	9768850	C C	CTTATTTA others(9): Show CTTATTTATTTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01175.hp2 others(6): Show HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG02015.hp1 HG02738.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0003t0001g0283 others(4): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0003t0001g0283 a0001c0005t0001g0021 a0001c0005t0001g0067 a0001c0005t0001g0113 a0001c0005t0001g0165	9	424	0.0212	16	c.26 others(27): Show c.2637_*2638insATAAATAAATAAATAA	DHRS7C	ENSG00000184544.12	transcript	ENST00000571134.2	protein_coding		2587		chr17	TogoVar
DHRS7_chr14_60139119_60170398	60163209	T T	TAATAAGC others(9): Show TAATAAGCATATGACTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(105): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02738.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0155	108	388	0.2784	16	c.133 others(33): Show c.133+1952_133+1967dupTAGTCATATGCTTATT	DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding	1/6			chr14	TogoVar
DHRS7_chr14_60139119_60170398	60169133	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02145.hp2 HG04204.hp1 HG01358.hp2 HG02145.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0062 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0062	3	388	0.0077	16	c.-38 others(27): Show c.-3840_-3825dupTTTTTTTTTTTTTTTT	DHRS7	ENSG00000100612.14	transcript	ENST00000557185.6	protein_coding		3736		chr14	TogoVar
DHRS9_chr2_169064563_169101167	169078840	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp2 HG02451.hp1 HG03209.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0331 a0007c0010t0001g0332 a0001c0001t0001g0331 a0007c0010t0001g0332	2	398	0.0050	16	c.-59 others(33): Show c.-59-2682_-59-2681insTTTTTTTTTTTTTTGT	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079894	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02523.hp2 NA18940.hp2 others(14): Show HG00408.hp2 HG02523.hp2 NA18940.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18957.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18980.hp2 NA18999.hp2 NA19004.hp1 NA19054.hp1 NA19068.hp1 NA19084.hp1 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0001 a0004c0006t0001 a0001c0003t0001 a0004c0006t0001	a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 others(11): Show a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0018 a0001c0003t0001g0129 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0139 a0004c0006t0001g0130 a0004c0006t0001g0134	17	398	0.0427	16	c.-59 others(33): Show c.-59-1626_-59-1625insAGAGAGAGGGAGGGAG	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	398	0.0025	16	c.-59 others(33): Show c.-59-1486_-59-1471dupGAAAGAAAGAAAGAAA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	398	0.0025	16	c.-59 others(33): Show c.-59-1537_-59-1536insGAGAGAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2228119	A A	AAGGGAGG others(9): Show AAGGGAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0015 a0006c0013t0015	a0006c0013t0015g0011 a0006c0013t0015g0011	1	50	0.0200	16	c.805 others(33): Show c.805-6891_805-6890insCCCTTCCTTCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2243788	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18943.hp1 HG03491.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0023 a0001c0001t0001g0049	2	50	0.0400	16	c.597 others(31): Show c.597-574_597-559dupAAAAAAAAAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar

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