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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DOCK8_chr9_209865_470255	400472	C C	CCGCCACC others(46): Show CCGCCACCATCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ATCA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0113 a0002c0113	a0002c0113t0001 a0002c0113t0001	a0002c0113t0001g0235 a0002c0113t0001g0235	1	256	0.0039	53	c.323 others(72): Show c.3234+1214_3234+1215insGCCACCATCACCACCACCTCCACCAT CACCACCTCCTTCACCATCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK6_chr18_69395888_69854087	69617725	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0142 a0001c0002t0007g0142	1	170	0.0059	53	c.289 others(72): Show c.289+18228_289+18229insGAAAGAAAGAAAGAAAGAAAGAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPEP1_chr16_89608642_89643433	89619748	G G	GCTGTGCC others(46): Show GCTGTGCCCCCGCTCCCCTCCCTGCAGCCCCCTGCACCCCCTCCCTGCAG CGCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	250	0.0040	53	c.-10 others(72): Show c.-107+6039_-107+6040insGCTCCCCTCCCTGCAGCCCCCTGCAC CCCCTCCCTGCAGCGCCCTGTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP10_chr2_114437641_115850780	115166497	T T	TTATATAT others(46): Show TTATATATTATATAAATTTATAATATAAATATATATATAAATTTATAATA TAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp2 HG03579.hp1 others(1): Show HG02145.hp2 HG02896.hp2 HG03579.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0005 a0001c0002 a0001c0004 a0004c0005	a0001c0002t0001 a0001c0004t0004 a0004c0005t0012 a0001c0002t0001 a0001c0004t0004 a0004c0005t0012	a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0004t0004g0043 others(1): Show a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0004t0004g0043 a0004c0005t0012g0031	4	56	0.0714	53	c.61- others(72): Show c.61-142710_61-142658dupATATATAAATTTATAATATAAATATA TATTATATAAATTTATAATATAAATAT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154794811	T T	TGGGCCCC others(46): Show TGGGCCCCCCCACCCCCACCCCCACCCCCACCCCCACCCCACGCTGCTCC ATCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01071.hp2 others(14): Show HG00558.hp2 HG00673.hp1 HG01071.hp2 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03453.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(13): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0011 a0001c0016 a0001c0024 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0013 a0002c0019 a0002c0022 a0002c0026 a0002c0028	a0001c0001t0001 a0001c0003t0008 a0001c0006t0002 others(14): Show a0001c0001t0001 a0001c0003t0008 a0001c0006t0002 a0001c0010t0010 a0001c0011t0003 a0001c0016t0013 a0001c0024t0028 a0002c0002t0002 a0002c0002t0029 a0002c0004t0004 a0002c0005t0024 a0002c0008t0006 a0002c0013t0018 a0002c0019t0001 a0002c0022t0023 a0002c0026t0026 a0002c0028t0002	a0001c0001t0001g0019 a0001c0003t0008g0025 a0001c0006t0002g0015 others(14): Show a0001c0001t0001g0019 a0001c0003t0008g0025 a0001c0006t0002g0015 a0001c0010t0010g0009 a0001c0011t0003g0012 a0001c0016t0013g0014 a0001c0024t0028g0003 a0002c0002t0002g0020 a0002c0002t0029g0002 a0002c0004t0004g0008 a0002c0005t0024g0031 a0002c0008t0006g0034 a0002c0013t0018g0026 a0002c0019t0001g0021 a0002c0022t0023g0027 a0002c0026t0026g0006 a0002c0028t0002g0016	17	38	0.4474	53	c.126 others(70): Show c.1260+617_1260+618insCCACCCCCACCCCCACCCCCACCCCCAC CCCACGCTGCTCCATCAGGGCCCCC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL2_chr8_26509031_26663175	26556285	A A	AGTATATA others(46): Show AGTATATATAGTATATATAGTATATATATAGTATATATATATACTATATA TAGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01978.hp2 HG00738.hp1 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0017 a0001c0002t0023g0019 a0001c0002t0023g0017 a0001c0002t0023g0019	2	316	0.0063	53	c.355 others(72): Show c.355-25684_355-25683insGTATATATAGTATATATAGTATATAT ATAGTATATATATATACTATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101890475	T T	TCCCTCTT others(46): Show TCCCTCTTTATCACCATACTGGGCTAAGCCACTGTCATAAAGAGGGTGAT AAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(329): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0095 others(326): Show a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0380 a0001c0001t0002g0001 a0001c0001t0002g0083 a0001c0001t0002g0093 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0224 a0001c0001t0003g0004 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0168 a0001c0001t0003g0191 a0001c0001t0003g0199 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0003g0378 a0001c0001t0003g0381 a0001c0001t0003g0382 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0250 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0005g0388 a0001c0001t0006g0015 a0001c0001t0006g0185 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0253 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0262 a0001c0001t0007g0080 a0001c0001t0007g0197 a0001c0001t0007g0384 a0001c0001t0007g0385 a0001c0001t0007g0386 a0001c0001t0007g0387 a0001c0001t0007g0390 a0001c0001t0008g0003 a0001c0001t0008g0371 a0001c0001t0008g0372 a0001c0001t0008g0375 a0001c0001t0008g0383 a0001c0001t0009g0361 a0001c0001t0009g0363 a0001c0001t0009g0364 a0001c0001t0009g0365 a0001c0001t0009g0366 a0001c0001t0009g0367 a0001c0001t0010g0117 a0001c0001t0010g0124 a0001c0001t0010g0133 a0001c0001t0010g0134 a0001c0001t0011g0370 a0001c0001t0011g0373 a0001c0001t0011g0374 a0001c0001t0011g0379 a0001c0001t0012g0251 a0001c0001t0012g0389 a0001c0001t0012g0391 a0001c0001t0012g0393 a0001c0001t0014g0246 a0001c0001t0014g0247 a0001c0001t0014g0248 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0015g0219 a0001c0001t0016g0321 a0001c0001t0016g0326 a0001c0001t0016g0347 a0001c0001t0017g0005 a0001c0001t0017g0006 a0001c0001t0018g0252 a0001c0001t0018g0392 a0001c0001t0019g0010 a0001c0001t0019g0013 a0001c0001t0020g0009 a0001c0001t0020g0019 a0001c0001t0021g0243 a0001c0001t0021g0328 a0001c0001t0022g0116 a0001c0001t0024g0107 a0001c0001t0027g0008 a0001c0001t0029g0222 a0001c0001t0030g0094 a0001c0001t0031g0007 a0001c0001t0032g0151 a0001c0001t0033g0131 a0001c0001t0034g0369 a0001c0001t0035g0171 a0001c0001t0036g0147 a0001c0001t0037g0012 a0001c0001t0038g0014 a0001c0001t0039g0011 a0001c0001t0040g0360 a0001c0001t0041g0362 a0001c0001t0044g0368 a0001c0001t0045g0331 a0001c0001t0046g0323 a0001c0003t0002g0208	332	396	0.8384	53	c.132 others(70): Show c.132-7360_132-7359insCACTGTCATAAAGAGGGTGATAAAGCCC TCTTTATCACCATACTGGGCTAAGC	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DTD1_chr20_18583054_18771644	18708170	T T	TATATATA others(46): Show TATATATATATTATATATATATTTTATATATATATTATATATTTTATATA TATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18947.hp2 NA18951.hp2 others(3): Show HG03710.hp2 NA18947.hp2 NA18951.hp2 NA18957.hp1 NA18971.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0371 a0001c0001t0007g0372 a0001c0001t0007g0373 others(3): Show a0001c0001t0007g0371 a0001c0001t0007g0372 a0001c0001t0007g0373 a0001c0001t0007g0374 a0001c0001t0007g0375 a0001c0001t0007g0376	6	398	0.0151	53	c.478 others(72): Show c.478-35930_478-35929insATATATATATTATATATATATTTTAT ATATATATTATATATTTTATATATATA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5			chr20	TogoVar
DTD1_chr20_18583054_18771644	18708211	T T	TATATATT others(46): Show TATATATTATATATATATTATATATATATTATATATATATTTTATATATA TATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02559.hp1 HG03139.hp2 others(1): Show HG01167.hp2 HG02559.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0011g0380 others(1): Show a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0011g0380 a0001c0001t0011g0387	4	398	0.0101	53	c.478 others(72): Show c.478-35883_478-35882insTATATATATATTATATATATATTATA TATATATTTTATATATATATAATATAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18708297	A A	ATAATATA others(46): Show ATAATATATATTATATATATATTATATATATATAATATATATTATATATA TATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0386 a0001c0001t0011g0386	1	398	0.0025	53	c.478 others(72): Show c.478-35803_478-35802insTAATATATATTATATATATATTATAT ATATATAATATATATTATATATATATT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5			chr20	TogoVar
DUOX1_chr15_45124994_45170574	45160613	T T	TAGGGTGG others(46): Show TAGGGTGGTGTCAGGGATCTAGAAAATACTCTAATTCCTCATGGAATGCT ATGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(125): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0007 a0008 a0013 a0014 a0016 a0021	a0001c0008 a0001c0014 a0001c0027 others(11): Show a0001c0008 a0001c0014 a0001c0027 a0002c0002 a0002c0006 a0002c0018 a0002c0023 a0006c0012 a0007c0016 a0008c0013 a0013c0041 a0014c0021 a0016c0034 a0021c0028	a0001c0008t0003 a0001c0008t0008 a0001c0014t0003 others(15): Show a0001c0008t0003 a0001c0008t0008 a0001c0014t0003 a0001c0027t0003 a0002c0002t0003 a0002c0002t0005 a0002c0006t0003 a0002c0006t0005 a0002c0018t0005 a0002c0023t0003 a0006c0012t0003 a0006c0012t0005 a0007c0016t0003 a0008c0013t0003 a0013c0041t0005 a0014c0021t0003 a0016c0034t0003 a0021c0028t0009	a0001c0008t0003g0078 a0001c0008t0003g0079 a0001c0008t0003g0080 others(111): Show a0001c0008t0003g0078 a0001c0008t0003g0079 a0001c0008t0003g0080 a0001c0008t0003g0082 a0001c0008t0003g0083 a0001c0008t0008g0081 a0001c0014t0003g0345 a0001c0014t0003g0347 a0001c0027t0003g0100 a0002c0002t0003g0002 a0002c0002t0003g0023 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0067 a0002c0002t0003g0150 a0002c0002t0003g0212 a0002c0002t0003g0236 a0002c0002t0003g0248 a0002c0002t0003g0253 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0305 a0002c0002t0003g0307 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0335 a0002c0002t0003g0350 a0002c0002t0005g0001 a0002c0002t0005g0003 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0021 a0002c0002t0005g0038 a0002c0002t0005g0042 a0002c0002t0005g0043 a0002c0002t0005g0044 a0002c0002t0005g0045 a0002c0002t0005g0046 a0002c0002t0005g0047 a0002c0002t0005g0048 a0002c0002t0005g0049 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0102 a0002c0002t0005g0109 a0002c0002t0005g0110 a0002c0002t0005g0112 a0002c0002t0005g0113 a0002c0002t0005g0116 a0002c0002t0005g0117 a0002c0002t0005g0118 a0002c0002t0005g0120 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0126 a0002c0002t0005g0127 a0002c0002t0005g0128 a0002c0002t0005g0130 a0002c0002t0005g0131 a0002c0002t0005g0133 a0002c0002t0005g0134 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0155 a0002c0002t0005g0169 a0002c0002t0005g0189 a0002c0002t0005g0199 a0002c0002t0005g0318 a0002c0002t0005g0324 a0002c0006t0003g0180 a0002c0006t0003g0344 a0002c0006t0003g0346 a0002c0006t0005g0152 a0002c0006t0005g0153 a0002c0006t0005g0170 a0002c0006t0005g0171 a0002c0018t0005g0173 a0002c0023t0003g0353 a0006c0012t0003g0139 a0006c0012t0003g0141 a0006c0012t0005g0138 a0007c0016t0003g0188 a0007c0016t0003g0314 a0008c0013t0003g0065 a0008c0013t0003g0066 a0013c0041t0005g0123 a0014c0021t0003g0352 a0016c0034t0003g0029 a0021c0028t0009g0028	128	386	0.3316	53	c.370 others(70): Show c.3703-220_3703-168dupGTGGTGTCAGGGATCTAGAAAATACTCT AATTCCTCATGGAATGCTATGGAGG	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	28/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUSP8_chr11_1549051_1577271	1551118	T T	TCCATCCA others(46): Show TCCATCCACCCACCCGCCCACCCCACTCATCCCTCTACCCATTCATTCAT CTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01257.hp1 others(12): Show HG00438.hp1 HG00642.hp1 HG01257.hp1 HG01258.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp2 HG04184.hp1 NA18906.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0032 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0011g0049	15	367	0.0409	53	c.53 others(64): Show c.5399_*5400insGCAGATGAATGAATGGGTAGAGGGATGAGTGGGG TGGGCGGGTGGGTGGATGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2932		chr11	TogoVar
DUSP8_chr11_1549051_1577271	1551853	T T	TCCATCCA others(46): Show TCCATCCATCCAACCACCCACCCCACTCATCCCTCTACCCATTCATCCAT CTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01257.hp1 others(11): Show HG00438.hp1 HG00642.hp1 HG01257.hp1 HG01258.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp2 HG04184.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0032 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0011g0049	14	367	0.0382	53	c.46 others(64): Show c.4664_*4665insGCAGATGGATGAATGGGTAGAGGGATGAGTGGGG TGGGTGGTTGGATGGATGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2197		chr11	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGGCG others(46): Show GGGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGGCGCGCGAGG GGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	446	0.0022	53	c.-46 others(64): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCCGCCCCCTCGCGCGCCC CGCCCCCTCGCGCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172078	C C	CGCGAGGG others(46): Show CGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGCGGG GCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	446	0.0022	53	c.-46 others(64): Show c.-4636_-4635insACGCCCCGCCCCCTCGCGCGCCCCCGCCCCCTCG CACGCCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4594		chr19	TogoVar
DYM_chr18_49031387_49465645	49440842	C C	CATATTTT others(46): Show CATATTTTATATATTTATATAAATACATTATATTTTATATATTTATATAA ATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0008 a0001c0003t0024g0008	1	290	0.0035	53	c.-53 others(72): Show c.-53-10396_-53-10395insATATTTATATAAATATATAAAATATA ATGTATTTATATAAATATATAAAATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440973	A A	ATATATAA others(46): Show ATATATAATTATATATATATTAATATATATATATTATATATATATATAGA TTAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	290	0.0035	53	c.-53 others(72): Show c.-53-10527_-53-10526insATAATCTATATATATATATAATATAT ATATATTAATATATATATAATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EFNA5_chr5_107371894_107675937	107591899	A A	ATATATTA others(46): Show ATATATTATATATATTATATATAATATATTATATATATTATATATAATAT ATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0145 a0001c0001t0019g0145	1	190	0.0053	53	c.125 others(72): Show c.125+78589_125+78590insATATATATTATATATAATATATATAA TATATTATATATAATATATATAATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EHD2_chr19_47708422_47748134	47731280	A A	AAAATATA others(46): Show AAAATATATATATATATGTATATATATATATATATACATATATATATATA TGTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	398	0.0025	53	c.915 others(70): Show c.915+5056_915+5057insAAATATATATATATATGTATATATATAT ATATATACATATATATATATATGTG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5			chr19	TogoVar
EHMT1_chr9_137614005_137841127	137716505	G G	GGTGGTGT others(46): Show GGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGA AGTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	170	0.0059	53	c.86- others(66): Show c.86-103_86-102insGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGTCATGGTGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4EBP2_chr10_70399145_70433618	70408035	A A	ACCCCCCC others(46): Show ACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19056.hp2 NA19057.hp1 others(3): Show NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19084.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0103 others(1): Show a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0103 a0001c0002t0002g0118	6	422	0.0142	53	c.145 others(70): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(46): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGG GAGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp2 HG01074.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0271 a0001c0001t0003g0272	2	312	0.0064	53	c.178 others(70): Show c.178-6649_178-6648insCCTCCCCTCCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180022	A A	ATAATATA others(46): Show ATAATATATATTACATAATATATTACATATATTATGTAATATATGTTATA TATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01256.hp1 HG01952.hp1 others(21): Show HG00408.hp2 HG01256.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02602.hp1 HG03927.hp2 HG04199.hp1 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18960.hp2 NA18964.hp2 NA18979.hp1 NA18988.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023	a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 others(21): Show a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0010g0220 a0001c0001t0010g0232 a0001c0001t0023g0029	24	312	0.0769	53	c.-37 others(64): Show c.-3757_-3756insAATATATAACATATATTACATAATATATGTAATA TATTATGTAATATATATTA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3126		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180022	A A	ATAATATA others(46): Show ATAATATATATTACATAATATATTACATCTATTATGTAATATATGTTATA TATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	312	0.0032	53	c.-37 others(64): Show c.-3757_-3756insAATATATAACATATATTACATAATAGATGTAATA TATTATGTAATATATATTA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3126		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3240941	T T	TAAAGCAA others(46): Show TAAAGCAAAGCAGCAGATCCTTCCTCAAGAAAAGCCAGCAGACTCTTCCT AAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(212): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(212): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0091 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0076 a0001c0001t0009g0248 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0004t0001g0074 a0001c0005t0001g0104 a0001c0006t0003g0203	215	250	0.8600	53	c.416 others(72): Show c.416+16357_416+16358insCTTTAGGAAGAGTCTGCTGGCTTTTC TTGAGGAAGGATCTGCTGCTTTGCTTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELMO1_chr7_36847906_37453864	37292938	G G	GGCCAGCC others(46): Show GGCCAGCCACCCCGTCTGGGAGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01106.hp1 others(41): Show HG00735.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18970.hp2 NA19000.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0008 a0001c0006t0004 a0002c0008t0004	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 others(41): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0002g0002 a0001c0001t0002g0067 a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0004g0036 a0001c0001t0004g0043 a0001c0001t0004g0046 a0001c0001t0004g0057 a0001c0001t0004g0063 a0001c0001t0004g0080 a0001c0001t0005g0011 a0001c0001t0005g0027 a0001c0001t0008g0092 a0001c0001t0010g0084 a0001c0001t0013g0078 a0001c0001t0014g0088 a0001c0001t0016g0060 a0001c0002t0001g0052 a0001c0002t0002g0033 a0001c0002t0002g0049 a0001c0002t0003g0028 a0001c0002t0003g0037 a0001c0002t0003g0051 a0001c0002t0004g0023 a0001c0003t0002g0020 a0001c0003t0002g0035 a0001c0003t0002g0050 a0001c0003t0002g0076 a0001c0003t0002g0089 a0001c0003t0008g0045 a0001c0003t0008g0079 a0001c0006t0004g0058 a0002c0008t0004g0034	44	92	0.4783	53	c.193 others(72): Show c.193-21057_193-21056insGGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCTCCCAGACGGGGTGGCTGGC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(46): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	312	0.0032	53	c.-47 others(64): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACACACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(46): Show ACATATATCATATATGATATATCACATATATCATATATGATATATCACAT ATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	338	0.0030	53	c.221 others(72): Show c.221+21071_221+21072insATATATGTGATATATCATATATGATA TATGTGATATATCATATATGATATATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(46): Show ACATATATCATATATGATATATCACATATATGATATATCATATATGATAT ATCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0108 a0001c0001t0025g0108	1	338	0.0030	53	c.221 others(72): Show c.221+21071_221+21072insCGATATATCATATATGATATATCATA TATGTGATATATCATATATGATATATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(46): Show ACATATATCATATATGATATATCGCATATATCATATATCATATATGATAT ATCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	338	0.0030	53	c.221 others(72): Show c.221+21071_221+21072insCGATATATCATATATGATATATGATA TATGCGATATATCATATATGATATATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(46): Show ACATATATCATATATGATATATCGCATATATCATATATGATATATCGCAT ATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0306 a0001c0001t0066g0306	1	338	0.0030	53	c.221 others(72): Show c.221+21071_221+21072insATATATGCGATATATCATATATGATA TATGCGATATATCATATATGATATATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084426	C C	CATATATC others(46): Show CATATATCATATATGATATATCACATATATCATATATGATATATCACATA TATG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	338	0.0030	53	c.221 others(72): Show c.221+21070_221+21071insCATATATGTGATATATCATATATGAT ATATGTGATATATCATATATGATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ENC1_chr5_74622409_74645728	74630561	C C	CCTTCACA others(46): Show CCTTCACATACAATCGCTAAATCGTTCCTTTTAATGCAGAAACAGTCTCA GCCT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	430	0.0023	53	c.33 others(68): Show c.33-570_*33-569insAGGCTGAGACTGTTTCTGCATTAAAAGGAA CGATTTAGCGATTGTATGTGAAG	ENC1	ENSG00000171617.16	transcript	ENST00000302351.9	protein_coding	2/2			chr5	TogoVar
ENOSF1_chr18_665318_717630	667617	G G	GGAGATGG others(46): Show GGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGTGATGGTGATGG TGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0373 a0003c0004t0003g0373	1	418	0.0024	53	c.66 others(64): Show c.6687_*6688insATCACCATCACCATCACCATCACCATCACCATCA CCATCACCATCACCATCTC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2700		chr18	TogoVar
ERFL_chr19_41902704_41933449	41914654	C C	CCGTCTCT others(46): Show CCGTCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCT CCAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	330	0.0030	53	c.-13 others(70): Show c.-13-1723_-13-1722insATGGAGGGGAGGGAGAGACAGAGATGGT GGAAGGGGAGGGAGAGACAGAGACG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	676418	G G	GTGAGGAC others(46): Show GTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0313 a0001c0003t0002g0313	1	378	0.0027	53	c.305 others(70): Show c.305-2372_305-2371insGAGGGGCCGCCGCGCCTCTGTCCTCACG AGGGGCCGCCGCGCCTCTGTCCTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERMARD_chr6_169746622_169786600	169778564	G G	GTATCTGT others(46): Show GTATCTGTTTTAAGCTACATTCCTTCTCTGAAAGCCCAATTACACTCTAG AAAT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0162 a0003c0004t0001g0162	1	379	0.0026	53	c.174 others(70): Show c.1740-618_1740-617insTATCTGTTTTAAGCTACATTCCTTCTCT GAAAGCCCAATTACACTCTAGAAAT	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	16/17			chr6	TogoVar
ESPNL_chr2_238095340_238138287	238119564	A A	ATGGATGG others(46): Show ATGGATGGAGGAGGTGGATGGAGGAGGTGGGTGGAGGAGGGGAGATGGAG GAGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0022 a0022	a0022c0056 a0022c0056	a0022c0056t0001 a0022c0056t0001	a0022c0056t0001g0042 a0022c0056t0001g0042	1	408	0.0025	53	c.987 others(70): Show c.987+2559_987+2560insGTGGAGGAGGGGAGATGGAGGAGGTGGA TGGAGGAGGTGGATGGAGGAGGTGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESYT2_chr7_158725997_158834509	158729420	T T	TGTGGAGG others(46): Show TGTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAGGAGC AAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	370	0.0027	53	c.47 others(64): Show c.4786_*4787insGCTTGCTCCTCCCCCACTATCTCCACACCTGCTC CTCCCCCCAGCACCTCCAC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1576		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729710	G G	GAAGCAAG others(46): Show GAAGCAAGTGTGGATGTGCTCGGGGGAGCAGTGTGGAGATGTTGGGGAGT TTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0219 a0002c0009t0003g0219	1	370	0.0027	53	c.44 others(64): Show c.4496_*4497insGGAAACTCCCCAACATCTCCACACTGCTCCCCCG AGCACATCCACACTTGCTT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1286		chr7	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(46): Show GATATATATTTTATATATATATATATAGGATATATATTTTATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	378	0.0027	53	c.701 others(68): Show c.701+321_701+322insATATATATATATATAAAATATATATCCTAT ATATATATATATAAAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
EXD3_chr9_137301896_137428162	137380471	A A	ATCCCCCC others(46): Show ATCCCCCCCAATCTCCCCGCCAGTATCCCCCCCACCCCAACCCCCTTCTG GGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp1 others(20): Show HG00099.hp2 HG00280.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01884.hp1 HG01884.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp1 NA18522.hp2 NA19066.hp1	a0002 a0003 a0004 others(12): Show a0002 a0003 a0004 a0005 a0009 a0010 a0012 a0014 a0018 a0019 a0024 a0025 a0026 a0027 a0029	a0002c0002 a0003c0003 a0004c0007 others(13): Show a0002c0002 a0003c0003 a0004c0007 a0004c0009 a0005c0018 a0009c0008 a0010c0006 a0012c0012 a0014c0029 a0018c0022 a0019c0019 a0024c0017 a0025c0024 a0026c0025 a0027c0035 a0029c0036	a0002c0002t0001 a0003c0003t0001 a0004c0007t0001 others(13): Show a0002c0002t0001 a0003c0003t0001 a0004c0007t0001 a0004c0009t0001 a0005c0018t0001 a0009c0008t0001 a0010c0006t0001 a0012c0012t0001 a0014c0029t0001 a0018c0022t0001 a0019c0019t0001 a0024c0017t0001 a0025c0024t0001 a0026c0025t0001 a0027c0035t0001 a0029c0036t0001	a0002c0002t0001g0011 a0002c0002t0001g0036 a0003c0003t0001g0025 others(20): Show a0002c0002t0001g0011 a0002c0002t0001g0036 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0003c0003t0001g0068 a0004c0007t0001g0002 a0004c0007t0001g0023 a0004c0009t0001g0065 a0005c0018t0001g0029 a0009c0008t0001g0012 a0009c0008t0001g0013 a0010c0006t0001g0008 a0012c0012t0001g0006 a0012c0012t0001g0046 a0014c0029t0001g0024 a0018c0022t0001g0038 a0019c0019t0001g0022 a0024c0017t0001g0007 a0025c0024t0001g0049 a0026c0025t0001g0071 a0027c0035t0001g0040 a0029c0036t0001g0003	23	82	0.2805	53	c.120 others(70): Show c.120+2841_120+2842insCGCCCAGAAGGGGGTTGGGGTGGGGGGG ATACTGGCGGGGAGATTGGGGGGGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137380471	A A	ATCCCCCC others(46): Show ATCCCCCCCAATCTCCCCGCCAGTATCCCCCCCATCCCAACCCCCTTCTG GGCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01256.hp2 others(11): Show HG00280.hp1 HG00323.hp2 HG01256.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03688.hp1 NA18999.hp2	a0004 a0005 a0007 others(8): Show a0004 a0005 a0007 a0008 a0010 a0013 a0015 a0016 a0017 a0020 a0021	a0004c0021 a0005c0005 a0007c0010 others(9): Show a0004c0021 a0005c0005 a0007c0010 a0008c0013 a0008c0020 a0010c0006 a0013c0027 a0015c0028 a0016c0026 a0017c0030 a0020c0014 a0021c0023	a0004c0021t0001 a0005c0005t0001 a0007c0010t0001 others(9): Show a0004c0021t0001 a0005c0005t0001 a0007c0010t0001 a0008c0013t0001 a0008c0020t0001 a0010c0006t0001 a0013c0027t0001 a0015c0028t0001 a0016c0026t0001 a0017c0030t0001 a0020c0014t0001 a0021c0023t0001	a0004c0021t0001g0069 a0005c0005t0001g0018 a0005c0005t0001g0066 others(11): Show a0004c0021t0001g0069 a0005c0005t0001g0018 a0005c0005t0001g0066 a0007c0010t0001g0021 a0007c0010t0001g0079 a0008c0013t0001g0039 a0008c0020t0001g0005 a0010c0006t0001g0047 a0013c0027t0001g0064 a0015c0028t0001g0080 a0016c0026t0001g0033 a0017c0030t0001g0015 a0020c0014t0001g0074 a0021c0023t0001g0004	14	82	0.1707	53	c.120 others(70): Show c.120+2841_120+2842insCGCCCAGAAGGGGGTTGGGATGGGGGGG ATACTGGCGGGGAGATTGGGGGGGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501225	A A	ATATATAT others(46): Show ATATATATTATATATATCTATATATTATATATATCTATATATATTATATA TATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01261.hp1 others(3): Show HG00438.hp1 HG01175.hp1 HG01261.hp1 HG02080.hp2 HG03669.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0002t0006 a0001c0001t0001 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0002t0005g0023 a0001c0002t0006g0132	6	272	0.0221	53	c.238 others(72): Show c.2381-1526_2381-1525insGATATATATAATATATATAGATATAT ATAATATATAGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501314	C C	CTATATAT others(46): Show CTATATATATTATATATATATATATATTATATATATCTATATATATTATA TATA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0055 a0001c0002t0010g0055	1	272	0.0037	53	c.238 others(72): Show c.2381-1615_2381-1614insTATATATAATATATATAGATATATAT AATATATATATATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501316	A A	ATATATAT others(46): Show ATATATATTATATATATCTATATATTATATATATCTATATATATTATATA TATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG01123.hp1 others(11): Show HG00280.hp2 HG00408.hp1 HG01123.hp1 HG01167.hp2 HG02132.hp1 NA18612.hp1 NA18970.hp1 NA18971.hp1 NA19003.hp1 NA19007.hp1 NA19010.hp1 NA19072.hp1 NA19086.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0004 a0004c0014t0003	a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0098 others(11): Show a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0131 a0001c0001t0001g0203 a0001c0001t0001g0252 a0001c0001t0003g0050 a0001c0002t0001g0056 a0001c0002t0001g0073 a0001c0003t0001g0222 a0001c0004t0004g0006 a0004c0014t0003g0218	14	272	0.0515	53	c.238 others(72): Show c.2381-1617_2381-1616insGATATATATAATATATATAGATATAT ATAATATATAGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EYS_chr6_63714980_65712226	65420453	T T	TCTTGCTA others(46): Show TCTTGCTATTTCCACTACATTTGCAGTTGCTTCTTCTACTGTTGTTTTAA ACCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0002 a0004c0017t0001g0002	1	24	0.0417	53	c.863 others(72): Show c.863-15139_863-15087dupTGGTTTAAAACAACAGTAGAAGAAGC AACTGCAAATGTAGTGGAAATAGCAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	5/42			chr6	TogoVar
F11_chr4_186261189_186294681	186294193	G G	GTTTGTCT others(46): Show GTTTGTCTTACCTCATCTACACCTACTGATGGAGAGACTTGTTCGTGTAT GTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0181 a0001c0004t0003g0181	1	456	0.0022	53	c.55 others(64): Show c.5579_*5580insTTTGTCTTACCTCATCTACACCTACTGATGGAGA GACTTGTTCGTGTATGTGT	F11	ENSG00000088926.15	transcript	ENST00000403665.7	protein_coding		4513		chr4	TogoVar
F7_chr13_113100791_113125685	113107752	C C	CGAGGGTG others(46): Show CGAGGGTGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGG GAGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	400	0.0025	53	c.64+ others(68): Show c.64+1848_64+1849insAGGGTGTGTCCCGGGAGTGTGGGTGTCCCG GGGGCGTGGGTGTCCCGGGAGTG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108563	C C	CAGGGGCG others(46): Show CAGGGGCGTGGGTGTCCGGGGGGCGTGGGTGTCCCGGGGGTGTGGGTGTC CCGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	400	0.0025	53	c.65- others(68): Show c.65-2127_65-2126insAGGGGCGTGGGTGTCCGGGGGGCGTGGGTG TCCCGGGGGTGTGGGTGTCCCGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar

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